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 2 24194153 24194153 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 g.chr2:24194153G>A c.49G>A c.(49-51)Gaa>Aaa p.E17K BLCA 2 24205879 24205879 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr2:24205879C>T c.401C>T c.(400-402)tCa>tTa p.S134L BLCA 2 24207568 24207568 + Missense_Mutation SNP G G C TCGA-KQ-A41O-01A-12D-A34U-08 TCGA-KQ-A41O-10D-01D-A34X-08 g.chr2:24207568G>C c.451G>C c.(451-453)Gca>Cca p.A151P BLCA 2 24207632 24207632 + Missense_Mutation SNP C C T TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr2:24207632C>T c.515C>T c.(514-516)cCc>cTc p.P172L BLCA 2 24222660 24222660 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 g.chr2:24222660G>C c.703G>C c.(703-705)Gaa>Caa p.E235Q BRCA 2 24194187 24194187 + Missense_Mutation SNP A A G TCGA-AR-A250-01A-31D-A167-09 TCGA-AR-A250-10A-01D-A167-09 g.chr2:24194187A>G c.83A>G c.(82-84)aAt>aGt p.N28S BRCA 2 24199863 24199863 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr2:24199863delA c.205delA c.(205-207)aaafs p.K69fs CESC 2 24194275 24194275 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr2:24194275G>A c.171G>A c.(169-171)caG>caA p.Q57Q CESC 2 24205898 24205898 + Silent SNP A A T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 g.chr2:24205898A>T c.420A>T c.(418-420)ctA>ctT p.L140L COAD 2 24199873 24199874 + Missense_Mutation DNP TC TC AT TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr2:24199873_24199874TC>AT c.215_216TC>AT c.(214-216)tTC>tAT p.F72Y COAD 2 24199877 24199877 + Silent SNP C C T TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr2:24199877C>T c.219C>T c.(217-219)acC>acT p.T73T COAD 2 24199878 24199878 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr2:24199878G>A c.220G>A c.(220-222)Gtc>Atc p.V74I COAD 2 24222589 24222589 + Missense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr2:24222589G>T c.632G>T c.(631-633)aGa>aTa p.R211I COAD 2 24222598 24222598 + Missense_Mutation SNP C C T TCGA-D5-6534-01A-21D-1924-10 TCGA-D5-6534-10A-01D-1924-10 g.chr2:24222598C>T c.641C>T c.(640-642)cCg>cTg p.P214L COAD 2 24222699 24222700 + Frame_Shift_Ins INS - - A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr2:24222699_24222700insA c.742_743insA c.(742-744)caafs p.Q248fs COADREAD 2 24199873 24199874 + Missense_Mutation DNP TC TC AT TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr2:24199873_24199874TC>AT c.215_216TC>AT c.(214-216)tTC>tAT p.F72Y COADREAD 2 24199877 24199877 + Silent SNP C C T TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr2:24199877C>T c.219C>T c.(217-219)acC>acT p.T73T COADREAD 2 24199878 24199878 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr2:24199878G>A c.220G>A c.(220-222)Gtc>Atc p.V74I COADREAD 2 24222589 24222589 + Missense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr2:24222589G>T c.632G>T c.(631-633)aGa>aTa p.R211I COADREAD 2 24222598 24222598 + Missense_Mutation SNP C C T TCGA-D5-6534-01A-21D-1924-10 TCGA-D5-6534-10A-01D-1924-10 g.chr2:24222598C>T c.641C>T c.(640-642)cCg>cTg p.P214L COADREAD 2 24222699 24222700 + Frame_Shift_Ins INS - - A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr2:24222699_24222700insA c.742_743insA c.(742-744)caafs p.Q248fs HNSC 2 24194165 24194165 + Missense_Mutation SNP G G C TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 g.chr2:24194165G>C c.61G>C c.(61-63)Gat>Cat p.D21H HNSC 2 24194237 24194237 + Missense_Mutation SNP C C G TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 g.chr2:24194237C>G c.133C>G c.(133-135)Cag>Gag p.Q45E HNSC 2 24222567 24222567 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 g.chr2:24222567G>A c.610G>A c.(610-612)Gaa>Aaa p.E204K LIHC 2 24194229 24194229 + Missense_Mutation SNP A A T TCGA-DD-A1EE-01A-11D-A12Z-10 TCGA-DD-A1EE-10A-01D-A12Z-10 g.chr2:24194229A>T c.125A>T c.(124-126)gAg>gTg p.E42V LIHC 2 24194229 24194229 + Missense_Mutation SNP A A T TCGA-DD-A1EF-01A-11D-A12Z-10 TCGA-DD-A1EF-10A-01D-A12Z-10 g.chr2:24194229A>T c.125A>T c.(124-126)gAg>gTg p.E42V LIHC 2 24199877 24199877 + Silent SNP C C A TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr2:24199877C>A c.219C>A c.(217-219)acC>acA p.T73T LIHC 2 24199886 24199886 + Missense_Mutation SNP C C G TCGA-G3-AAV0-01A-11D-A36X-10 TCGA-G3-AAV0-10A-01D-A370-10 g.chr2:24199886C>G c.228C>G c.(226-228)gaC>gaG p.D76E LUAD 2 24205808 24205808 + Missense_Mutation SNP G G T TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chr2:24205808G>T c.330G>T c.(328-330)gaG>gaT p.E110D LUAD 2 24205850 24205850 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 g.chr2:24205850G>T c.372G>T c.(370-372)ttG>ttT p.L124F LUAD 2 24205881 24205881 + Nonsense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 g.chr2:24205881G>T c.403G>T c.(403-405)Gga>Tga p.G135* LUAD 2 24207567 24207567 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr2:24207567A>T c.450A>T c.(448-450)aaA>aaT p.K150N LUAD 2 24222558 24222558 + Missense_Mutation SNP G G C TCGA-35-4122-01A-01D-1105-08 TCGA-35-4122-10A-01D-1105-08 g.chr2:24222558G>C c.601G>C c.(601-603)Gac>Cac p.D201H LUAD 2 24222692 24222692 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr2:24222692G>C c.735G>C c.(733-735)caG>caC p.Q245H LUSC 2 24194180 24194180 + Missense_Mutation SNP G G T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr2:24194180G>T c.76G>T c.(76-78)Ggt>Tgt p.G26C LUSC 2 24199905 24199905 + Missense_Mutation SNP G G A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 g.chr2:24199905G>A c.247G>A c.(247-249)Gat>Aat p.D83N LUSC 2 24222688 24222688 + Missense_Mutation SNP T T A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 g.chr2:24222688T>A c.731T>A c.(730-732)aTt>aAt p.I244N PAAD 2 24194191 24194191 + Silent SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:24194191A>G c.87A>G c.(85-87)caA>caG p.Q29Q SKCM 2 24199943 24199943 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr2:24199943G>A c.285G>A c.(283-285)aaG>aaA p.K95K SKCM 2 24222604 24222604 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr2:24222604C>T c.647C>T c.(646-648)tCc>tTc p.S216F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 2 24194153 24194153 single base substitution G A exon_variant BLCA-US 2 24194153 24194153 single base substitution G A missense_variant E17K 49G>A BLCA-US 2 24194153 24194153 single base substitution G A upstream_gene_variant BOCA-FR 2 24181276 24181276 single base substitution C T intron_variant BRCA-EU 2 24145253 24145253 deletion of <=200bp C - upstream_gene_variant BRCA-EU 2 24145586 24145586 single base substitution A G upstream_gene_variant BRCA-EU 2 24145722 24145722 single base substitution G C upstream_gene_variant BRCA-EU 2 24145778 24145778 single base substitution G C upstream_gene_variant BRCA-EU 2 24146574 24146574 single base substitution A G upstream_gene_variant BRCA-EU 2 24146628 24146628 single base substitution G C upstream_gene_variant BRCA-EU 2 24147886 24147886 single base substitution G A upstream_gene_variant BRCA-EU 2 24149044 24149044 single base substitution C T upstream_gene_variant BRCA-EU 2 24149168 24149168 single base substitution G A upstream_gene_variant BRCA-EU 2 24150028 24150028 single base substitution G A upstream_gene_variant BRCA-EU 2 24150096 24150096 single base substitution C T upstream_gene_variant BRCA-EU 2 24151036 24151036 single base substitution A T intron_variant BRCA-EU 2 24151651 24151651 insertion of <=200bp - T intron_variant BRCA-EU 2 24151924 24151924 single base substitution G A intron_variant BRCA-EU 2 24152038 24152038 single base substitution G A intron_variant BRCA-EU 2 24153529 24153529 single base substitution G C intron_variant BRCA-EU 2 24153579 24153579 single base substitution T C intron_variant BRCA-EU 2 24153743 24153743 deletion of <=200bp A - intron_variant BRCA-EU 2 24153790 24153790 single base substitution G A intron_variant BRCA-EU 2 24154005 24154005 single base substitution G C intron_variant BRCA-EU 2 24154031 24154031 single base substitution A G intron_variant BRCA-EU 2 24156907 24156907 single base substitution G A intron_variant BRCA-EU 2 24158273 24158273 single base substitution A C intron_variant BRCA-EU 2 24161863 24161863 single base substitution C T intron_variant BRCA-EU 2 24161863 24161863 single base substitution C T upstream_gene_variant BRCA-EU 2 24162097 24162097 single base substitution G A intron_variant BRCA-EU 2 24162097 24162097 single base substitution G A upstream_gene_variant BRCA-EU 2 24163045 24163045 single base substitution C T intron_variant BRCA-EU 2 24163045 24163045 single base substitution C T upstream_gene_variant BRCA-EU 2 24163551 24163551 single base substitution G C intron_variant BRCA-EU 2 24163587 24163587 single base substitution G T intron_variant BRCA-EU 2 24164455 24164455 single base substitution G C intron_variant BRCA-EU 2 24167949 24167949 deletion of <=200bp A - intron_variant BRCA-EU 2 24168532 24168532 single base substitution G C intron_variant BRCA-EU 2 24169453 24169453 single base substitution A G intron_variant BRCA-EU 2 24170742 24170742 single base substitution G C intron_variant BRCA-EU 2 24173440 24173440 deletion of <=200bp T - intron_variant BRCA-EU 2 24174030 24174030 single base substitution C A intron_variant BRCA-EU 2 24175369 24175369 single base substitution C T intron_variant BRCA-EU 2 24176232 24176232 single base substitution G C intron_variant BRCA-EU 2 24176780 24176780 insertion of <=200bp - T intron_variant BRCA-EU 2 24176964 24176964 single base substitution C T intron_variant BRCA-EU 2 24177126 24177126 single base substitution G A intron_variant BRCA-EU 2 24177240 24177240 single base substitution A G intron_variant BRCA-EU 2 24177287 24177287 single base substitution C T intron_variant BRCA-EU 2 24177418 24177418 single base substitution T A intron_variant BRCA-EU 2 24178083 24178083 single base substitution G C intron_variant BRCA-EU 2 24179980 24179980 deletion of <=200bp T - intron_variant BRCA-EU 2 24180180 24180180 deletion of <=200bp T - intron_variant BRCA-EU 2 24180741 24180741 single base substitution A G intron_variant BRCA-EU 2 24181498 24181498 single base substitution T A intron_variant BRCA-EU 2 24183521 24183521 single base substitution G C intron_variant BRCA-EU 2 24185160 24185160 single base substitution G C intron_variant BRCA-EU 2 24186901 24186901 single base substitution C A intron_variant BRCA-EU 2 24187784 24187802 deletion of <=200bp CAGGCACATTTCTTGACCC - intron_variant BRCA-EU 2 24187924 24187924 deletion of <=200bp T - intron_variant BRCA-EU 2 24188134 24188152 deletion of <=200bp TGGTGAGACGCAGCATCCT - intron_variant BRCA-EU 2 24189243 24189243 single base substitution G A intron_variant BRCA-EU 2 24189243 24189243 single base substitution G A upstream_gene_variant BRCA-EU 2 24189294 24189294 single base substitution C T intron_variant BRCA-EU 2 24189294 24189294 single base substitution C T upstream_gene_variant BRCA-EU 2 24190742 24190742 single base substitution T G intron_variant BRCA-EU 2 24190742 24190742 single base substitution T G upstream_gene_variant BRCA-EU 2 24193007 24193007 single base substitution A C intron_variant BRCA-EU 2 24193007 24193007 single base substitution A C upstream_gene_variant BRCA-EU 2 24193241 24193241 single base substitution G T intron_variant BRCA-EU 2 24193241 24193241 single base substitution G T upstream_gene_variant BRCA-EU 2 24194992 24194992 insertion of <=200bp - A intron_variant BRCA-EU 2 24195348 24195348 deletion of <=200bp A - intron_variant BRCA-EU 2 24196902 24196902 single base substitution T C intron_variant BRCA-EU 2 24197475 24197475 single base substitution C T intron_variant BRCA-EU 2 24197646 24197646 single base substitution A C intron_variant BRCA-EU 2 24197950 24197950 deletion of <=200bp T - intron_variant BRCA-EU 2 24199226 24199226 single base substitution G A intron_variant BRCA-EU 2 24199863 24199863 single base substitution A G exon_variant BRCA-EU 2 24199863 24199863 single base substitution A G missense_variant K69E 205A>G BRCA-EU 2 24199884 24199884 single base substitution G A exon_variant BRCA-EU 2 24199884 24199884 single base substitution G A missense_variant D76N 226G>A BRCA-EU 2 24200528 24200528 insertion of <=200bp - A downstream_gene_variant BRCA-EU 2 24200528 24200528 insertion of <=200bp - A intron_variant BRCA-EU 2 24200842 24200842 single base substitution C T downstream_gene_variant BRCA-EU 2 24200842 24200842 single base substitution C T intron_variant BRCA-EU 2 24200966 24200966 single base substitution G A downstream_gene_variant BRCA-EU 2 24200966 24200966 single base substitution G A intron_variant BRCA-EU 2 24202456 24202456 single base substitution A T downstream_gene_variant BRCA-EU 2 24202456 24202456 single base substitution A T intron_variant BRCA-EU 2 24202470 24202470 single base substitution T C downstream_gene_variant BRCA-EU 2 24202470 24202470 single base substitution T C intron_variant BRCA-EU 2 24202594 24202594 single base substitution A G downstream_gene_variant BRCA-EU 2 24202594 24202594 single base substitution A G intron_variant BRCA-EU 2 24203263 24203263 single base substitution A G downstream_gene_variant BRCA-EU 2 24203263 24203263 single base substitution A G intron_variant BRCA-EU 2 24203421 24203421 single base substitution C T downstream_gene_variant BRCA-EU 2 24203421 24203421 single base substitution C T intron_variant BRCA-EU 2 24203509 24203509 insertion of <=200bp - T downstream_gene_variant BRCA-EU 2 24203509 24203509 insertion of <=200bp - T intron_variant BRCA-EU 2 24203836 24203836 single base substitution G C downstream_gene_variant BRCA-EU 2 24203836 24203836 single base substitution G C intron_variant BRCA-EU 2 24204111 24204111 single base substitution G T downstream_gene_variant BRCA-EU 2 24204111 24204111 single base substitution G T intron_variant BRCA-EU 2 24204430 24204430 single base substitution G A downstream_gene_variant BRCA-EU 2 24204430 24204430 single base substitution G A intron_variant BRCA-EU 2 24205839 24205839 single base substitution G T exon_variant BRCA-EU 2 24205839 24205839 single base substitution G T stop_gained E121* 361G>T BRCA-EU 2 24205937 24205937 single base substitution C G intron_variant BRCA-EU 2 24207172 24207172 single base substitution G A intron_variant BRCA-EU 2 24208616 24208616 single base substitution A T intron_variant BRCA-EU 2 24209242 24209242 single base substitution T C intron_variant BRCA-EU 2 24210051 24210051 single base substitution A T intron_variant BRCA-EU 2 24210070 24210070 single base substitution G C intron_variant BRCA-EU 2 24210550 24210550 single base substitution A C intron_variant BRCA-EU 2 24212005 24212028 deletion of <=200bp AACTATTTCAAAAATTGAAGAGGG - intron_variant BRCA-EU 2 24212028 24212028 single base substitution G A intron_variant BRCA-EU 2 24212592 24212592 single base substitution G T intron_variant BRCA-EU 2 24212664 24212664 single base substitution T C intron_variant BRCA-EU 2 24213042 24213042 single base substitution C T intron_variant BRCA-EU 2 24213129 24213129 single base substitution G T intron_variant BRCA-EU 2 24214437 24214437 single base substitution C A intron_variant BRCA-EU 2 24214554 24214554 single base substitution C G intron_variant BRCA-EU 2 24217260 24217260 single base substitution G A intron_variant BRCA-EU 2 24218922 24218922 single base substitution C G intron_variant BRCA-EU 2 24220586 24220586 single base substitution G T intron_variant BRCA-EU 2 24223879 24223879 single base substitution G C 3_prime_UTR_variant BRCA-EU 2 24223879 24223879 single base substitution G C downstream_gene_variant BRCA-EU 2 24224329 24224329 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 2 24224329 24224329 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 24224479 24224479 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 24224479 24224479 single base substitution G A downstream_gene_variant BRCA-EU 2 24226138 24226138 single base substitution G C 3_prime_UTR_variant BRCA-EU 2 24226138 24226138 single base substitution G C downstream_gene_variant BRCA-EU 2 24226638 24226638 single base substitution C G 3_prime_UTR_variant BRCA-EU 2 24226638 24226638 single base substitution C G downstream_gene_variant BRCA-EU 2 24227592 24227592 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 2 24227592 24227592 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 24230776 24230776 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 24231741 24231741 single base substitution G A downstream_gene_variant BRCA-FR 2 24147886 24147886 single base substitution G A upstream_gene_variant BRCA-FR 2 24147999 24147999 single base substitution G C upstream_gene_variant BRCA-FR 2 24154031 24154031 single base substitution A G intron_variant BRCA-FR 2 24159215 24159215 single base substitution G A intron_variant BRCA-FR 2 24159215 24159215 single base substitution G A upstream_gene_variant BRCA-FR 2 24163863 24163863 single base substitution G T intron_variant BRCA-FR 2 24168532 24168532 single base substitution G C intron_variant BRCA-FR 2 24177126 24177126 single base substitution G A intron_variant BRCA-FR 2 24178871 24178871 single base substitution A G intron_variant BRCA-FR 2 24180087 24180087 single base substitution T G intron_variant BRCA-FR 2 24200043 24200043 single base substitution G A exon_variant BRCA-FR 2 24200043 24200043 single base substitution G A intron_variant BRCA-FR 2 24200842 24200842 single base substitution C T downstream_gene_variant BRCA-FR 2 24200842 24200842 single base substitution C T intron_variant BRCA-FR 2 24200966 24200966 single base substitution G A downstream_gene_variant BRCA-FR 2 24200966 24200966 single base substitution G A intron_variant BRCA-FR 2 24207172 24207172 single base substitution G A intron_variant BRCA-FR 2 24226059 24226059 single base substitution C G 3_prime_UTR_variant BRCA-FR 2 24226059 24226059 single base substitution C G downstream_gene_variant BRCA-FR 2 24226138 24226138 single base substitution G C 3_prime_UTR_variant BRCA-FR 2 24226138 24226138 single base substitution G C downstream_gene_variant BRCA-FR 2 24231741 24231741 single base substitution G A downstream_gene_variant BRCA-UK 2 24153647 24153647 single base substitution G C intron_variant BRCA-UK 2 24173627 24173627 single base substitution G C intron_variant BRCA-UK 2 24185170 24185170 single base substitution G C intron_variant BRCA-UK 2 24213042 24213042 single base substitution C T intron_variant BRCA-UK 2 24216081 24216081 single base substitution G T intron_variant BRCA-US 2 24194187 24194187 single base substitution A G exon_variant BRCA-US 2 24194187 24194187 single base substitution A G missense_variant N28S 83A>G BRCA-US 2 24194187 24194187 single base substitution A G upstream_gene_variant BRCA-US 2 24199863 24199863 deletion of <=200bp A - exon_variant BRCA-US 2 24199863 24199863 deletion of <=200bp A - frameshift_variant K69 BTCA-JP 2 24181274 24181274 single base substitution G A intron_variant BTCA-JP 2 24194175 24194175 single base substitution C T exon_variant BTCA-JP 2 24194175 24194175 single base substitution C T missense_variant P24L 71C>T BTCA-JP 2 24194175 24194175 single base substitution C T upstream_gene_variant CESC-US 2 24194275 24194275 single base substitution G A exon_variant CESC-US 2 24194275 24194275 single base substitution G A synonymous_variant Q57Q 171G>A CESC-US 2 24205898 24205898 single base substitution A T exon_variant CESC-US 2 24205898 24205898 single base substitution A T synonymous_variant L140L 420A>T CLLE-ES 2 24225229 24225229 single base substitution T G 3_prime_UTR_variant CLLE-ES 2 24225229 24225229 single base substitution T G downstream_gene_variant COAD-US 2 24149439 24149439 single base substitution G A upstream_gene_variant COAD-US 2 24199877 24199877 single base substitution C T exon_variant COAD-US 2 24199877 24199877 single base substitution C T synonymous_variant T73T 219C>T COAD-US 2 24222598 24222598 single base substitution C T exon_variant COAD-US 2 24222598 24222598 single base substitution C T missense_variant P161L 482C>T COAD-US 2 24222598 24222598 single base substitution C T missense_variant P214L 641C>T COCA-CN 2 24149581 24149581 single base substitution C T upstream_gene_variant COCA-CN 2 24167267 24167267 single base substitution A G intron_variant ESAD-UK 2 24148194 24148194 insertion of <=200bp - TATAATAAAAATATTTCAGAGTAG upstream_gene_variant ESAD-UK 2 24148653 24148653 single base substitution T C upstream_gene_variant ESAD-UK 2 24151185 24151185 single base substitution C A intron_variant ESAD-UK 2 24151665 24151665 single base substitution G A intron_variant ESAD-UK 2 24151924 24151924 single base substitution G A intron_variant ESAD-UK 2 24154031 24154031 single base substitution A G intron_variant ESAD-UK 2 24154032 24154032 insertion of <=200bp - G intron_variant ESAD-UK 2 24154160 24154160 single base substitution T C intron_variant ESAD-UK 2 24154665 24154665 single base substitution G C intron_variant ESAD-UK 2 24155601 24155601 single base substitution G A intron_variant ESAD-UK 2 24158334 24158334 single base substitution A G intron_variant ESAD-UK 2 24158334 24158334 single base substitution A G upstream_gene_variant ESAD-UK 2 24158979 24158979 single base substitution A T intron_variant ESAD-UK 2 24158979 24158979 single base substitution A T upstream_gene_variant ESAD-UK 2 24159214 24159214 single base substitution G A intron_variant ESAD-UK 2 24159214 24159214 single base substitution G A upstream_gene_variant ESAD-UK 2 24159425 24159425 single base substitution A G intron_variant ESAD-UK 2 24159425 24159425 single base substitution A G upstream_gene_variant ESAD-UK 2 24161516 24161516 single base substitution A C intron_variant ESAD-UK 2 24161516 24161516 single base substitution A C upstream_gene_variant ESAD-UK 2 24163139 24163139 single base substitution C T intron_variant ESAD-UK 2 24163139 24163139 single base substitution C T upstream_gene_variant ESAD-UK 2 24166411 24166411 single base substitution G A intron_variant ESAD-UK 2 24167949 24167949 insertion of <=200bp - A intron_variant ESAD-UK 2 24173827 24173827 single base substitution G A intron_variant ESAD-UK 2 24174905 24174905 single base substitution C T intron_variant ESAD-UK 2 24176800 24176803 deletion of <=200bp TGTT - intron_variant ESAD-UK 2 24178274 24178274 single base substitution T A intron_variant ESAD-UK 2 24178375 24178375 single base substitution G C intron_variant ESAD-UK 2 24178860 24178860 single base substitution G A intron_variant ESAD-UK 2 24180730 24180730 single base substitution A T intron_variant ESAD-UK 2 24187645 24187645 insertion of <=200bp - A intron_variant ESAD-UK 2 24194057 24194057 single base substitution C T intron_variant ESAD-UK 2 24194057 24194057 single base substitution C T upstream_gene_variant ESAD-UK 2 24194414 24194414 single base substitution A C intron_variant ESAD-UK 2 24197507 24197507 single base substitution C T intron_variant ESAD-UK 2 24197664 24197664 single base substitution G A intron_variant ESAD-UK 2 24200086 24200086 single base substitution A G exon_variant ESAD-UK 2 24200086 24200086 single base substitution A G intron_variant ESAD-UK 2 24200420 24200420 single base substitution G T downstream_gene_variant ESAD-UK 2 24200420 24200420 single base substitution G T intron_variant ESAD-UK 2 24200546 24200546 single base substitution G C downstream_gene_variant ESAD-UK 2 24200546 24200546 single base substitution G C intron_variant ESAD-UK 2 24200900 24200900 single base substitution G A downstream_gene_variant ESAD-UK 2 24200900 24200900 single base substitution G A intron_variant ESAD-UK 2 24201275 24201275 single base substitution A T downstream_gene_variant ESAD-UK 2 24201275 24201275 single base substitution A T intron_variant ESAD-UK 2 24201526 24201527 deletion of <=200bp AT - downstream_gene_variant ESAD-UK 2 24201526 24201527 deletion of <=200bp AT - intron_variant ESAD-UK 2 24204407 24204407 single base substitution C A downstream_gene_variant ESAD-UK 2 24204407 24204407 single base substitution C A intron_variant ESAD-UK 2 24204621 24204621 single base substitution G A downstream_gene_variant ESAD-UK 2 24204621 24204621 single base substitution G A intron_variant ESAD-UK 2 24204923 24204923 single base substitution A G downstream_gene_variant ESAD-UK 2 24204923 24204923 single base substitution A G intron_variant ESAD-UK 2 24205540 24205540 single base substitution A T intron_variant ESAD-UK 2 24206025 24206025 deletion of <=200bp T - intron_variant ESAD-UK 2 24206404 24206404 single base substitution G A intron_variant ESAD-UK 2 24206823 24206823 single base substitution G A intron_variant ESAD-UK 2 24207285 24207285 single base substitution G T intron_variant ESAD-UK 2 24208239 24208239 single base substitution G A intron_variant ESAD-UK 2 24208710 24208710 single base substitution T A intron_variant ESAD-UK 2 24212114 24212114 single base substitution A T intron_variant ESAD-UK 2 24213588 24213588 single base substitution G A intron_variant ESAD-UK 2 24214082 24214082 single base substitution C T intron_variant ESAD-UK 2 24218775 24218775 single base substitution T C intron_variant ESAD-UK 2 24224539 24224539 single base substitution T A 3_prime_UTR_variant ESAD-UK 2 24224539 24224539 single base substitution T A downstream_gene_variant ESAD-UK 2 24224544 24224544 single base substitution T C 3_prime_UTR_variant ESAD-UK 2 24224544 24224544 single base substitution T C downstream_gene_variant ESAD-UK 2 24224750 24224750 single base substitution G A 3_prime_UTR_variant ESAD-UK 2 24224750 24224750 single base substitution G A downstream_gene_variant ESAD-UK 2 24225861 24225861 single base substitution G A 3_prime_UTR_variant ESAD-UK 2 24225861 24225861 single base substitution G A downstream_gene_variant ESAD-UK 2 24227855 24227855 single base substitution C A downstream_gene_variant ESAD-UK 2 24228815 24228815 single base substitution T G downstream_gene_variant ESCA-CN 2 24222694 24222694 single base substitution G A exon_variant ESCA-CN 2 24222694 24222694 single base substitution G A missense_variant R193K 578G>A ESCA-CN 2 24222694 24222694 single base substitution G A missense_variant R246K 737G>A KIRC-US 2 24222556 24222556 single base substitution A G exon_variant KIRC-US 2 24222556 24222556 single base substitution A G missense_variant K147R 440A>G KIRC-US 2 24222556 24222556 single base substitution A G missense_variant K200R 599A>G LAML-KR 2 24184520 24184520 single base substitution T C intron_variant LAML-KR 2 24191782 24191782 single base substitution G T intron_variant LAML-KR 2 24191782 24191782 single base substitution G T splice_region_variant LAML-KR 2 24191782 24191782 single base substitution G T upstream_gene_variant LAML-KR 2 24196523 24196523 single base substitution G T intron_variant LAML-KR 2 24197242 24197242 single base substitution C G intron_variant LAML-KR 2 24197276 24197276 single base substitution C T intron_variant LIAD-FR 2 24222614 24222614 single base substitution A G exon_variant LIAD-FR 2 24222614 24222614 single base substitution A G synonymous_variant T166T 498A>G LIAD-FR 2 24222614 24222614 single base substitution A G synonymous_variant T219T 657A>G LICA-CN 2 24181167 24181167 single base substitution A T splice_region_variant LICA-FR 2 24161414 24161414 insertion of <=200bp - C intron_variant LICA-FR 2 24161414 24161414 insertion of <=200bp - C upstream_gene_variant LICA-FR 2 24171816 24171816 insertion of <=200bp - TTT intron_variant LICA-FR 2 24199849 24199849 single base substitution A G exon_variant LICA-FR 2 24199849 24199849 single base substitution A G missense_variant N64S 191A>G LICA-FR 2 24212102 24212102 single base substitution C T intron_variant LICA-FR 2 24212225 24212225 single base substitution G C intron_variant LICA-FR 2 24214301 24214301 insertion of <=200bp - ACACACACACACAT intron_variant LICA-FR 2 24219645 24219645 insertion of <=200bp - T intron_variant LICA-FR 2 24221295 24221295 deletion of <=200bp G - intron_variant LICA-FR 2 24227841 24227841 single base substitution T G downstream_gene_variant LIHC-US 2 24194229 24194229 single base substitution A T exon_variant LIHC-US 2 24194229 24194229 single base substitution A T missense_variant E42V 125A>T LIHC-US 2 24194229 24194229 single base substitution A T upstream_gene_variant LINC-JP 2 24149573 24149573 single base substitution G A upstream_gene_variant LINC-JP 2 24150450 24150450 insertion of <=200bp - A 5_prime_UTR_variant LINC-JP 2 24150450 24150450 insertion of <=200bp - A exon_variant LINC-JP 2 24151203 24151203 single base substitution T C intron_variant LINC-JP 2 24158601 24158601 single base substitution A G intron_variant LINC-JP 2 24158601 24158601 single base substitution A G upstream_gene_variant LINC-JP 2 24178838 24178838 single base substitution A T intron_variant LINC-JP 2 24181168 24181168 single base substitution C T splice_region_variant LINC-JP 2 24181310 24181310 single base substitution G A intron_variant LINC-JP 2 24181520 24181520 single base substitution A T intron_variant LINC-JP 2 24194285 24194285 single base substitution G A splice_donor_variant LINC-JP 2 24196190 24196190 single base substitution G T intron_variant LINC-JP 2 24200034 24200034 single base substitution G A exon_variant LINC-JP 2 24200034 24200034 single base substitution G A intron_variant LIRI-JP 2 24147120 24147120 insertion of <=200bp - A upstream_gene_variant LIRI-JP 2 24147789 24147789 deletion of <=200bp A - upstream_gene_variant LIRI-JP 2 24149192 24149192 single base substitution C T upstream_gene_variant LIRI-JP 2 24149825 24149825 single base substitution G T upstream_gene_variant LIRI-JP 2 24151809 24151809 single base substitution G T intron_variant LIRI-JP 2 24152170 24152170 single base substitution C T intron_variant LIRI-JP 2 24152207 24152207 single base substitution G C intron_variant LIRI-JP 2 24152242 24152242 single base substitution A T intron_variant LIRI-JP 2 24153095 24153095 single base substitution C T intron_variant LIRI-JP 2 24154306 24154306 single base substitution A G intron_variant LIRI-JP 2 24154370 24154370 single base substitution G A intron_variant LIRI-JP 2 24157417 24157417 single base substitution T G intron_variant LIRI-JP 2 24158647 24158647 single base substitution C T intron_variant LIRI-JP 2 24158647 24158647 single base substitution C T upstream_gene_variant LIRI-JP 2 24160492 24160492 single base substitution A G intron_variant LIRI-JP 2 24160492 24160492 single base substitution A G upstream_gene_variant LIRI-JP 2 24165737 24165737 single base substitution G T intron_variant LIRI-JP 2 24166691 24166691 single base substitution A G intron_variant LIRI-JP 2 24166774 24166774 single base substitution C T intron_variant LIRI-JP 2 24178852 24178852 single base substitution A G intron_variant LIRI-JP 2 24181291 24181291 single base substitution C A intron_variant LIRI-JP 2 24181699 24181699 single base substitution G T intron_variant LIRI-JP 2 24184810 24184810 single base substitution G T intron_variant LIRI-JP 2 24185518 24185518 single base substitution C G intron_variant LIRI-JP 2 24186881 24186881 single base substitution A G intron_variant LIRI-JP 2 24187855 24187855 single base substitution T C intron_variant LIRI-JP 2 24187869 24187869 single base substitution A G intron_variant LIRI-JP 2 24189728 24189728 single base substitution C T intron_variant LIRI-JP 2 24189728 24189728 single base substitution C T upstream_gene_variant LIRI-JP 2 24190708 24190708 single base substitution A G intron_variant LIRI-JP 2 24190708 24190708 single base substitution A G upstream_gene_variant LIRI-JP 2 24190891 24190891 single base substitution A T intron_variant LIRI-JP 2 24190891 24190891 single base substitution A T upstream_gene_variant LIRI-JP 2 24191360 24191360 single base substitution G A intron_variant LIRI-JP 2 24191360 24191360 single base substitution G A upstream_gene_variant LIRI-JP 2 24191411 24191411 single base substitution C T intron_variant LIRI-JP 2 24191411 24191411 single base substitution C T upstream_gene_variant LIRI-JP 2 24191968 24191968 single base substitution G T intron_variant LIRI-JP 2 24191968 24191968 single base substitution G T upstream_gene_variant LIRI-JP 2 24192715 24192715 single base substitution A C intron_variant LIRI-JP 2 24192715 24192715 single base substitution A C upstream_gene_variant LIRI-JP 2 24195709 24195709 single base substitution T A intron_variant LIRI-JP 2 24198118 24198118 single base substitution T A intron_variant LIRI-JP 2 24199202 24199202 single base substitution A G intron_variant LIRI-JP 2 24202322 24202322 single base substitution A T downstream_gene_variant LIRI-JP 2 24202322 24202322 single base substitution A T intron_variant LIRI-JP 2 24204149 24204149 single base substitution C G downstream_gene_variant LIRI-JP 2 24204149 24204149 single base substitution C G intron_variant LIRI-JP 2 24204789 24204789 single base substitution A G downstream_gene_variant LIRI-JP 2 24204789 24204789 single base substitution A G intron_variant LIRI-JP 2 24208097 24208097 single base substitution C G intron_variant LIRI-JP 2 24215245 24215245 single base substitution A G intron_variant LIRI-JP 2 24217094 24217094 single base substitution A G intron_variant LIRI-JP 2 24220894 24220894 single base substitution C G intron_variant LIRI-JP 2 24221238 24221238 single base substitution A T intron_variant LIRI-JP 2 24222250 24222250 single base substitution A T intron_variant LIRI-JP 2 24223497 24223497 single base substitution G C 3_prime_UTR_variant LIRI-JP 2 24223497 24223497 single base substitution G C downstream_gene_variant LIRI-JP 2 24223497 24223497 single base substitution G C exon_variant LIRI-JP 2 24227635 24227635 single base substitution C T 3_prime_UTR_variant LIRI-JP 2 24227635 24227635 single base substitution C T downstream_gene_variant LIRI-JP 2 24228588 24228588 single base substitution C T downstream_gene_variant LIRI-JP 2 24228911 24228911 single base substitution G A downstream_gene_variant LIRI-JP 2 24231348 24231348 single base substitution C T downstream_gene_variant LIRI-JP 2 24232260 24232260 single base substitution A T downstream_gene_variant LUSC-KR 2 24149958 24149958 single base substitution C G upstream_gene_variant LUSC-KR 2 24152403 24152403 single base substitution G A intron_variant LUSC-KR 2 24161102 24161102 single base substitution G A intron_variant LUSC-KR 2 24161102 24161102 single base substitution G A upstream_gene_variant LUSC-KR 2 24169277 24169277 single base substitution G C intron_variant LUSC-KR 2 24169399 24169399 single base substitution G T intron_variant LUSC-KR 2 24171141 24171141 single base substitution G T intron_variant LUSC-KR 2 24172208 24172208 single base substitution G A intron_variant LUSC-KR 2 24176460 24176460 single base substitution G C intron_variant LUSC-KR 2 24179073 24179073 single base substitution G T intron_variant LUSC-KR 2 24181159 24181159 single base substitution G T intron_variant LUSC-KR 2 24182861 24182861 single base substitution G T intron_variant LUSC-KR 2 24190092 24190092 single base substitution T A intron_variant LUSC-KR 2 24190092 24190092 single base substitution T A upstream_gene_variant LUSC-KR 2 24195908 24195908 single base substitution G C intron_variant LUSC-KR 2 24196796 24196796 single base substitution G A intron_variant LUSC-KR 2 24198515 24198515 single base substitution T C intron_variant LUSC-KR 2 24200571 24200571 single base substitution G T downstream_gene_variant LUSC-KR 2 24200571 24200571 single base substitution G T intron_variant LUSC-KR 2 24201439 24201439 single base substitution G T downstream_gene_variant LUSC-KR 2 24201439 24201439 single base substitution G T intron_variant LUSC-KR 2 24205432 24205432 single base substitution G A intron_variant LUSC-KR 2 24217223 24217223 single base substitution G T intron_variant LUSC-KR 2 24220897 24220897 single base substitution G C intron_variant LUSC-KR 2 24223086 24223086 single base substitution G A 3_prime_UTR_variant LUSC-KR 2 24223086 24223086 single base substitution G A downstream_gene_variant LUSC-KR 2 24223086 24223086 single base substitution G A exon_variant LUSC-KR 2 24225343 24225343 single base substitution C T 3_prime_UTR_variant LUSC-KR 2 24225343 24225343 single base substitution C T downstream_gene_variant LUSC-KR 2 24231962 24231962 single base substitution C T downstream_gene_variant LUSC-US 2 24194180 24194180 single base substitution G T exon_variant LUSC-US 2 24194180 24194180 single base substitution G T missense_variant G26C 76G>T LUSC-US 2 24194180 24194180 single base substitution G T upstream_gene_variant LUSC-US 2 24199905 24199905 single base substitution G A exon_variant LUSC-US 2 24199905 24199905 single base substitution G A missense_variant D83N 247G>A LUSC-US 2 24222688 24222688 single base substitution T A exon_variant LUSC-US 2 24222688 24222688 single base substitution T A missense_variant I191N 572T>A LUSC-US 2 24222688 24222688 single base substitution T A missense_variant I244N 731T>A MALY-DE 2 24145974 24145974 single base substitution A C upstream_gene_variant MALY-DE 2 24148983 24148983 single base substitution G C upstream_gene_variant MALY-DE 2 24150867 24150867 single base substitution G A intron_variant MALY-DE 2 24150988 24150988 single base substitution G A intron_variant MALY-DE 2 24151455 24151455 single base substitution A T intron_variant MALY-DE 2 24155487 24155487 single base substitution G A intron_variant MALY-DE 2 24159807 24159807 single base substitution C G intron_variant MALY-DE 2 24159807 24159807 single base substitution C G upstream_gene_variant MALY-DE 2 24163664 24163664 single base substitution G A intron_variant MALY-DE 2 24163666 24163666 single base substitution G A intron_variant MALY-DE 2 24166429 24166429 single base substitution C G intron_variant MALY-DE 2 24167488 24167488 single base substitution T G intron_variant MALY-DE 2 24167554 24167554 single base substitution T A intron_variant MALY-DE 2 24168364 24168364 single base substitution T A intron_variant MALY-DE 2 24170272 24170272 single base substitution G A intron_variant MALY-DE 2 24177758 24177758 single base substitution A G intron_variant MALY-DE 2 24183133 24183133 single base substitution A C intron_variant MALY-DE 2 24184505 24184505 insertion of <=200bp - CCTCC intron_variant MALY-DE 2 24187521 24187521 single base substitution A G intron_variant MALY-DE 2 24192422 24192422 single base substitution A G intron_variant MALY-DE 2 24192422 24192422 single base substitution A G upstream_gene_variant MALY-DE 2 24192910 24192910 single base substitution C A intron_variant MALY-DE 2 24192910 24192910 single base substitution C A upstream_gene_variant MALY-DE 2 24198339 24198339 single base substitution C T intron_variant MALY-DE 2 24198476 24198476 single base substitution A C intron_variant MALY-DE 2 24204436 24204436 deletion of <=200bp A - downstream_gene_variant MALY-DE 2 24204436 24204436 deletion of <=200bp A - intron_variant MALY-DE 2 24207312 24207312 single base substitution T G intron_variant MALY-DE 2 24207431 24207431 insertion of <=200bp - A intron_variant MALY-DE 2 24207538 24207538 single base substitution C A intron_variant MALY-DE 2 24207538 24207538 single base substitution C A splice_region_variant MALY-DE 2 24214562 24214562 single base substitution G A intron_variant MELA-AU 2 24147100 24147100 single base substitution A G upstream_gene_variant MELA-AU 2 24147118 24147118 single base substitution G A upstream_gene_variant MELA-AU 2 24147526 24147526 single base substitution A C upstream_gene_variant MELA-AU 2 24148139 24148139 single base substitution G A upstream_gene_variant MELA-AU 2 24149926 24149927 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 24150513 24150513 single base substitution G A intron_variant MELA-AU 2 24152576 24152576 single base substitution C T intron_variant MELA-AU 2 24153708 24153708 single base substitution G A intron_variant MELA-AU 2 24153753 24153753 single base substitution G A intron_variant MELA-AU 2 24154114 24154114 single base substitution C T intron_variant MELA-AU 2 24154193 24154193 single base substitution T C intron_variant MELA-AU 2 24154704 24154704 single base substitution A G intron_variant MELA-AU 2 24155518 24155518 single base substitution C T intron_variant MELA-AU 2 24155944 24155944 single base substitution C T intron_variant MELA-AU 2 24156774 24156774 single base substitution C T intron_variant MELA-AU 2 24157358 24157358 single base substitution G A intron_variant MELA-AU 2 24157408 24157409 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 24158273 24158273 single base substitution A C intron_variant MELA-AU 2 24159365 24159365 single base substitution G A intron_variant MELA-AU 2 24159365 24159365 single base substitution G A upstream_gene_variant MELA-AU 2 24159381 24159381 single base substitution G A intron_variant MELA-AU 2 24159381 24159381 single base substitution G A upstream_gene_variant MELA-AU 2 24159778 24159778 single base substitution A G intron_variant MELA-AU 2 24159778 24159778 single base substitution A G upstream_gene_variant MELA-AU 2 24159844 24159844 single base substitution G A intron_variant MELA-AU 2 24159844 24159844 single base substitution G A upstream_gene_variant MELA-AU 2 24161979 24161980 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 24161979 24161980 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 24164012 24164012 single base substitution C T intron_variant MELA-AU 2 24164762 24164762 single base substitution G A intron_variant MELA-AU 2 24165050 24165050 single base substitution G A intron_variant MELA-AU 2 24165784 24165784 single base substitution C T intron_variant MELA-AU 2 24166030 24166030 single base substitution T G intron_variant MELA-AU 2 24167408 24167408 single base substitution C T intron_variant MELA-AU 2 24167765 24167765 single base substitution T A intron_variant MELA-AU 2 24167912 24167912 single base substitution T A intron_variant MELA-AU 2 24167958 24167958 single base substitution G T intron_variant MELA-AU 2 24168148 24168148 single base substitution T C intron_variant MELA-AU 2 24169259 24169259 single base substitution C T intron_variant MELA-AU 2 24170305 24170305 single base substitution C T intron_variant MELA-AU 2 24170966 24170966 single base substitution C T intron_variant MELA-AU 2 24171212 24171212 single base substitution C T intron_variant MELA-AU 2 24171712 24171712 single base substitution T C intron_variant MELA-AU 2 24172102 24172102 single base substitution G T intron_variant MELA-AU 2 24172335 24172335 single base substitution G T intron_variant MELA-AU 2 24173304 24173304 single base substitution C T intron_variant MELA-AU 2 24174188 24174188 single base substitution T G intron_variant MELA-AU 2 24174230 24174230 single base substitution C T intron_variant MELA-AU 2 24175409 24175409 single base substitution G A intron_variant MELA-AU 2 24177279 24177279 single base substitution C T intron_variant MELA-AU 2 24178813 24178813 single base substitution C T intron_variant MELA-AU 2 24179067 24179067 single base substitution C T intron_variant MELA-AU 2 24179197 24179197 single base substitution C T intron_variant MELA-AU 2 24179989 24179989 single base substitution C T intron_variant MELA-AU 2 24180336 24180336 single base substitution C G intron_variant MELA-AU 2 24180416 24180416 single base substitution C T intron_variant MELA-AU 2 24180502 24180502 single base substitution C T intron_variant MELA-AU 2 24181303 24181303 single base substitution A C intron_variant MELA-AU 2 24181813 24181813 single base substitution T A intron_variant MELA-AU 2 24183418 24183418 single base substitution C T intron_variant MELA-AU 2 24183847 24183847 single base substitution C T intron_variant MELA-AU 2 24183920 24183920 single base substitution T G intron_variant MELA-AU 2 24184124 24184124 single base substitution C A intron_variant MELA-AU 2 24186016 24186016 single base substitution C T intron_variant MELA-AU 2 24186763 24186763 single base substitution C T intron_variant MELA-AU 2 24186973 24186973 single base substitution C T intron_variant MELA-AU 2 24187666 24187666 single base substitution C T intron_variant MELA-AU 2 24187820 24187820 single base substitution C T intron_variant MELA-AU 2 24187920 24187920 single base substitution C T intron_variant MELA-AU 2 24189048 24189048 single base substitution C T intron_variant MELA-AU 2 24189363 24189363 single base substitution C T intron_variant MELA-AU 2 24189363 24189363 single base substitution C T upstream_gene_variant MELA-AU 2 24189751 24189751 single base substitution C T intron_variant MELA-AU 2 24189751 24189751 single base substitution C T upstream_gene_variant MELA-AU 2 24190630 24190630 single base substitution C T intron_variant MELA-AU 2 24190630 24190630 single base substitution C T upstream_gene_variant MELA-AU 2 24190742 24190742 single base substitution T G intron_variant MELA-AU 2 24190742 24190742 single base substitution T G upstream_gene_variant MELA-AU 2 24191282 24191282 single base substitution C T intron_variant MELA-AU 2 24191282 24191282 single base substitution C T upstream_gene_variant MELA-AU 2 24191336 24191336 single base substitution G A intron_variant MELA-AU 2 24191336 24191336 single base substitution G A upstream_gene_variant MELA-AU 2 24191536 24191536 single base substitution C T intron_variant MELA-AU 2 24191536 24191536 single base substitution C T upstream_gene_variant MELA-AU 2 24191886 24191886 single base substitution C T exon_variant MELA-AU 2 24191886 24191886 single base substitution C T intron_variant MELA-AU 2 24191886 24191886 single base substitution C T upstream_gene_variant MELA-AU 2 24193959 24193959 single base substitution T C intron_variant MELA-AU 2 24193959 24193959 single base substitution T C upstream_gene_variant MELA-AU 2 24194387 24194387 single base substitution C T intron_variant MELA-AU 2 24194492 24194493 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 2 24194978 24194978 single base substitution G A intron_variant MELA-AU 2 24195447 24195448 multiple base substitution (>=2bp and <=200bp) AC CT intron_variant MELA-AU 2 24195574 24195574 single base substitution C T intron_variant MELA-AU 2 24195938 24195939 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 24196177 24196177 single base substitution C T intron_variant MELA-AU 2 24197186 24197186 single base substitution C T intron_variant MELA-AU 2 24197982 24197982 single base substitution G A intron_variant MELA-AU 2 24198593 24198593 single base substitution C T intron_variant MELA-AU 2 24198925 24198925 single base substitution C T intron_variant MELA-AU 2 24198990 24198990 single base substitution C T intron_variant MELA-AU 2 24199942 24199943 multiple base substitution (>=2bp and <=200bp) AG GA exon_variant MELA-AU 2 24199942 24199943 multiple base substitution (>=2bp and <=200bp) AG GA missense_variant K95R 284AG>GA MELA-AU 2 24199942 24199943 multiple base substitution (>=2bp and <=200bp) AG GA splice_region_variant MELA-AU 2 24201192 24201192 single base substitution G A downstream_gene_variant MELA-AU 2 24201192 24201192 single base substitution G A intron_variant MELA-AU 2 24201507 24201507 single base substitution C T downstream_gene_variant MELA-AU 2 24201507 24201507 single base substitution C T intron_variant MELA-AU 2 24201582 24201582 single base substitution C T downstream_gene_variant MELA-AU 2 24201582 24201582 single base substitution C T intron_variant MELA-AU 2 24201999 24201999 single base substitution G A downstream_gene_variant MELA-AU 2 24201999 24201999 single base substitution G A intron_variant MELA-AU 2 24202303 24202303 single base substitution T A downstream_gene_variant MELA-AU 2 24202303 24202303 single base substitution T A intron_variant MELA-AU 2 24202685 24202685 single base substitution C T downstream_gene_variant MELA-AU 2 24202685 24202685 single base substitution C T intron_variant MELA-AU 2 24203582 24203582 single base substitution C T downstream_gene_variant MELA-AU 2 24203582 24203582 single base substitution C T intron_variant MELA-AU 2 24203752 24203752 single base substitution C T downstream_gene_variant MELA-AU 2 24203752 24203752 single base substitution C T intron_variant MELA-AU 2 24204017 24204017 single base substitution T C downstream_gene_variant MELA-AU 2 24204017 24204017 single base substitution T C intron_variant MELA-AU 2 24204127 24204127 single base substitution C T downstream_gene_variant MELA-AU 2 24204127 24204127 single base substitution C T intron_variant MELA-AU 2 24204208 24204208 single base substitution C T downstream_gene_variant MELA-AU 2 24204208 24204208 single base substitution C T intron_variant MELA-AU 2 24204301 24204301 single base substitution T A downstream_gene_variant MELA-AU 2 24204301 24204301 single base substitution T A intron_variant MELA-AU 2 24205736 24205736 single base substitution C T intron_variant MELA-AU 2 24205827 24205827 single base substitution G A exon_variant MELA-AU 2 24205827 24205827 single base substitution G A missense_variant D117N 349G>A MELA-AU 2 24206002 24206002 single base substitution C T intron_variant MELA-AU 2 24206261 24206261 single base substitution C T intron_variant MELA-AU 2 24207385 24207386 multiple base substitution (>=2bp and <=200bp) TA AT intron_variant MELA-AU 2 24207632 24207632 single base substitution C T exon_variant MELA-AU 2 24207632 24207632 single base substitution C T intron_variant MELA-AU 2 24207632 24207632 single base substitution C T missense_variant P172L 515C>T MELA-AU 2 24208514 24208515 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 24208974 24208974 single base substitution C T intron_variant MELA-AU 2 24209458 24209458 single base substitution C T intron_variant MELA-AU 2 24209671 24209671 single base substitution T C intron_variant MELA-AU 2 24211201 24211201 single base substitution C T intron_variant MELA-AU 2 24211744 24211744 single base substitution C T intron_variant MELA-AU 2 24211832 24211832 single base substitution C T intron_variant MELA-AU 2 24211933 24211933 single base substitution C T intron_variant MELA-AU 2 24213480 24213480 single base substitution C G intron_variant MELA-AU 2 24213993 24213993 single base substitution C T intron_variant MELA-AU 2 24214449 24214449 single base substitution C T intron_variant MELA-AU 2 24215084 24215084 single base substitution C T intron_variant MELA-AU 2 24215262 24215262 single base substitution G A intron_variant MELA-AU 2 24216070 24216070 single base substitution T C intron_variant MELA-AU 2 24216649 24216649 single base substitution C T intron_variant MELA-AU 2 24217111 24217111 single base substitution T C intron_variant MELA-AU 2 24217364 24217364 single base substitution C T intron_variant MELA-AU 2 24218289 24218289 single base substitution C T intron_variant MELA-AU 2 24218363 24218363 single base substitution C T intron_variant MELA-AU 2 24218860 24218860 single base substitution C T intron_variant MELA-AU 2 24219028 24219028 single base substitution C T intron_variant MELA-AU 2 24219386 24219386 single base substitution G T intron_variant MELA-AU 2 24219451 24219451 single base substitution A G intron_variant MELA-AU 2 24219456 24219456 single base substitution C T intron_variant MELA-AU 2 24219899 24219899 single base substitution C T intron_variant MELA-AU 2 24221082 24221082 single base substitution C T intron_variant MELA-AU 2 24221285 24221285 single base substitution G A intron_variant MELA-AU 2 24221642 24221642 single base substitution C T intron_variant MELA-AU 2 24223481 24223481 single base substitution C T 3_prime_UTR_variant MELA-AU 2 24223481 24223481 single base substitution C T downstream_gene_variant MELA-AU 2 24223481 24223481 single base substitution C T exon_variant MELA-AU 2 24224630 24224630 single base substitution C T 3_prime_UTR_variant MELA-AU 2 24224630 24224630 single base substitution C T downstream_gene_variant MELA-AU 2 24224635 24224635 single base substitution C T 3_prime_UTR_variant MELA-AU 2 24224635 24224635 single base substitution C T downstream_gene_variant MELA-AU 2 24224912 24224912 single base substitution C T 3_prime_UTR_variant MELA-AU 2 24224912 24224912 single base substitution C T downstream_gene_variant MELA-AU 2 24225367 24225367 single base substitution C T 3_prime_UTR_variant MELA-AU 2 24225367 24225367 single base substitution C T downstream_gene_variant MELA-AU 2 24226217 24226217 single base substitution G A 3_prime_UTR_variant MELA-AU 2 24226217 24226217 single base substitution G A downstream_gene_variant MELA-AU 2 24226247 24226248 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 2 24226247 24226248 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 24226480 24226480 single base substitution C T 3_prime_UTR_variant MELA-AU 2 24226480 24226480 single base substitution C T downstream_gene_variant MELA-AU 2 24226795 24226795 single base substitution C T 3_prime_UTR_variant MELA-AU 2 24226795 24226795 single base substitution C T downstream_gene_variant MELA-AU 2 24227352 24227352 single base substitution C T 3_prime_UTR_variant MELA-AU 2 24227352 24227352 single base substitution C T downstream_gene_variant MELA-AU 2 24228703 24228703 single base substitution T G downstream_gene_variant MELA-AU 2 24228779 24228779 single base substitution C T downstream_gene_variant MELA-AU 2 24229641 24229641 single base substitution C T downstream_gene_variant MELA-AU 2 24230601 24230601 single base substitution C T downstream_gene_variant MELA-AU 2 24230798 24230798 single base substitution C T downstream_gene_variant ORCA-IN 2 24169077 24169078 multiple base substitution (>=2bp and <=200bp) GC TT intron_variant ORCA-IN 2 24170684 24170684 single base substitution C T intron_variant ORCA-IN 2 24172301 24172301 single base substitution C T intron_variant ORCA-IN 2 24174364 24174364 single base substitution C T intron_variant ORCA-IN 2 24186520 24186520 single base substitution C T intron_variant ORCA-IN 2 24201585 24201585 single base substitution G T downstream_gene_variant ORCA-IN 2 24201585 24201585 single base substitution G T intron_variant ORCA-IN 2 24205803 24205803 single base substitution G C exon_variant ORCA-IN 2 24205803 24205803 single base substitution G C missense_variant E109Q 325G>C OV-AU 2 24145169 24145169 single base substitution A T upstream_gene_variant OV-AU 2 24154031 24154031 single base substitution A G intron_variant OV-AU 2 24160784 24160784 single base substitution G A intron_variant OV-AU 2 24160784 24160784 single base substitution G A upstream_gene_variant OV-AU 2 24167956 24167956 single base substitution A G intron_variant OV-AU 2 24168865 24168865 single base substitution C T intron_variant OV-AU 2 24174048 24174048 single base substitution G T intron_variant OV-AU 2 24174360 24174360 single base substitution T C intron_variant OV-AU 2 24176215 24176215 single base substitution C T intron_variant OV-AU 2 24176458 24176458 single base substitution A T intron_variant OV-AU 2 24178010 24178010 single base substitution C A intron_variant OV-AU 2 24179618 24179618 single base substitution A G intron_variant OV-AU 2 24179994 24179994 single base substitution A C intron_variant OV-AU 2 24185419 24185419 single base substitution A C intron_variant OV-AU 2 24189913 24189913 single base substitution C G intron_variant OV-AU 2 24189913 24189913 single base substitution C G upstream_gene_variant OV-AU 2 24190185 24190185 single base substitution C T intron_variant OV-AU 2 24190185 24190185 single base substitution C T upstream_gene_variant OV-AU 2 24196015 24196015 single base substitution T A intron_variant OV-AU 2 24204582 24204582 single base substitution G T downstream_gene_variant OV-AU 2 24204582 24204582 single base substitution G T intron_variant OV-AU 2 24212352 24212352 single base substitution G A intron_variant OV-AU 2 24221361 24221361 single base substitution G A intron_variant OV-AU 2 24221702 24221702 single base substitution C G intron_variant OV-AU 2 24228510 24228510 single base substitution A C downstream_gene_variant OV-AU 2 24229105 24229105 single base substitution C A downstream_gene_variant OV-AU 2 24231210 24231210 single base substitution T C downstream_gene_variant OV-AU 2 24232506 24232506 single base substitution T C downstream_gene_variant PACA-AU 2 24145253 24145253 deletion of <=200bp C - upstream_gene_variant PACA-AU 2 24150286 24150286 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 2 24150286 24150286 single base substitution G A exon_variant PACA-AU 2 24154031 24154031 single base substitution A G intron_variant PACA-AU 2 24154815 24154815 single base substitution A C intron_variant PACA-AU 2 24155415 24155415 single base substitution C T intron_variant PACA-AU 2 24167521 24167521 single base substitution T C intron_variant PACA-AU 2 24167956 24167956 single base substitution A G intron_variant PACA-AU 2 24174193 24174193 single base substitution C A intron_variant PACA-AU 2 24174348 24174348 single base substitution T C intron_variant PACA-AU 2 24188748 24188748 single base substitution A C intron_variant PACA-AU 2 24189785 24189785 single base substitution G A intron_variant PACA-AU 2 24189785 24189785 single base substitution G A upstream_gene_variant PACA-AU 2 24190507 24190507 single base substitution T G intron_variant PACA-AU 2 24190507 24190507 single base substitution T G upstream_gene_variant PACA-AU 2 24198267 24198267 single base substitution T A intron_variant PACA-AU 2 24201526 24201526 single base substitution A T downstream_gene_variant PACA-AU 2 24201526 24201526 single base substitution A T intron_variant PACA-AU 2 24213997 24213997 single base substitution T A intron_variant PACA-AU 2 24216231 24216231 single base substitution A G intron_variant PACA-AU 2 24217225 24217225 single base substitution G A intron_variant PACA-AU 2 24218084 24218084 single base substitution G A intron_variant PACA-AU 2 24218431 24218431 single base substitution C T intron_variant PACA-AU 2 24220514 24220514 single base substitution C A intron_variant PACA-AU 2 24222694 24222694 single base substitution G A exon_variant PACA-AU 2 24222694 24222694 single base substitution G A missense_variant R193K 578G>A PACA-AU 2 24222694 24222694 single base substitution G A missense_variant R246K 737G>A PACA-AU 2 24223094 24223094 single base substitution T C 3_prime_UTR_variant PACA-AU 2 24223094 24223094 single base substitution T C downstream_gene_variant PACA-AU 2 24223094 24223094 single base substitution T C exon_variant PACA-AU 2 24225622 24225622 single base substitution G A 3_prime_UTR_variant PACA-AU 2 24225622 24225622 single base substitution G A downstream_gene_variant PACA-AU 2 24229489 24229489 single base substitution A T downstream_gene_variant PACA-AU 2 24229524 24229524 single base substitution G A downstream_gene_variant PACA-CA 2 24152588 24152588 single base substitution A T intron_variant PACA-CA 2 24152832 24152832 single base substitution C T intron_variant PACA-CA 2 24152862 24152862 single base substitution G A intron_variant PACA-CA 2 24154031 24154031 single base substitution A G intron_variant PACA-CA 2 24155191 24155191 single base substitution C T intron_variant PACA-CA 2 24155525 24155525 single base substitution A G intron_variant PACA-CA 2 24157918 24157918 single base substitution C G intron_variant PACA-CA 2 24161268 24161268 single base substitution G A intron_variant PACA-CA 2 24161268 24161268 single base substitution G A upstream_gene_variant PACA-CA 2 24163018 24163018 single base substitution C T intron_variant PACA-CA 2 24163018 24163018 single base substitution C T upstream_gene_variant PACA-CA 2 24164396 24164396 single base substitution T G intron_variant PACA-CA 2 24165498 24165498 deletion of <=200bp A - intron_variant PACA-CA 2 24166145 24166145 single base substitution C T intron_variant PACA-CA 2 24167446 24167446 deletion of <=200bp T - intron_variant PACA-CA 2 24169143 24169143 single base substitution C T intron_variant PACA-CA 2 24170785 24170785 single base substitution C T intron_variant PACA-CA 2 24172440 24172440 single base substitution A G intron_variant PACA-CA 2 24186456 24186456 single base substitution C A intron_variant PACA-CA 2 24187923 24187923 insertion of <=200bp - T intron_variant PACA-CA 2 24189027 24189027 single base substitution A T intron_variant PACA-CA 2 24195709 24195709 single base substitution T A intron_variant PACA-CA 2 24196454 24196454 single base substitution C T intron_variant PACA-CA 2 24198356 24198356 single base substitution C T intron_variant PACA-CA 2 24201527 24201527 single base substitution T A downstream_gene_variant PACA-CA 2 24201527 24201527 single base substitution T A intron_variant PACA-CA 2 24210044 24210044 single base substitution T A intron_variant PACA-CA 2 24211285 24211285 single base substitution A G intron_variant PACA-CA 2 24214306 24214306 insertion of <=200bp - AT intron_variant PACA-CA 2 24215581 24215582 deletion of <=200bp TC - intron_variant PACA-CA 2 24216736 24216736 single base substitution T C intron_variant PACA-CA 2 24220352 24220352 single base substitution T C intron_variant PACA-CA 2 24228146 24228146 insertion of <=200bp - T downstream_gene_variant PACA-CA 2 24229672 24229672 single base substitution A C downstream_gene_variant PACA-CA 2 24232218 24232218 single base substitution A T downstream_gene_variant PAEN-AU 2 24171118 24171118 single base substitution C T intron_variant PAEN-IT 2 24217086 24217086 single base substitution C A intron_variant PBCA-DE 2 24154421 24154421 deletion of <=200bp A - intron_variant PBCA-DE 2 24171193 24171193 single base substitution G A intron_variant PBCA-DE 2 24171731 24171731 single base substitution A G intron_variant PBCA-DE 2 24181144 24181144 single base substitution T G intron_variant PBCA-DE 2 24196610 24196612 deletion of <=200bp CTC - intron_variant PBCA-DE 2 24206038 24206038 single base substitution T A intron_variant PBCA-DE 2 24208703 24208703 insertion of <=200bp - A intron_variant PBCA-DE 2 24215377 24215377 single base substitution C T intron_variant PBCA-DE 2 24231963 24231963 single base substitution G A downstream_gene_variant PRAD-CA 2 24161426 24161426 single base substitution T C intron_variant PRAD-CA 2 24161426 24161426 single base substitution T C upstream_gene_variant PRAD-CA 2 24163002 24163002 single base substitution T G intron_variant PRAD-CA 2 24163002 24163002 single base substitution T G upstream_gene_variant PRAD-CA 2 24180289 24180289 single base substitution C T intron_variant PRAD-CA 2 24206530 24206530 single base substitution A G intron_variant PRAD-UK 2 24146630 24146630 single base substitution C T upstream_gene_variant PRAD-UK 2 24149104 24149104 single base substitution C A upstream_gene_variant PRAD-UK 2 24153881 24153881 insertion of <=200bp - A intron_variant PRAD-UK 2 24181365 24181365 single base substitution T C intron_variant PRAD-UK 2 24182338 24182338 single base substitution G C intron_variant PRAD-UK 2 24190890 24190890 insertion of <=200bp - C intron_variant PRAD-UK 2 24190890 24190890 insertion of <=200bp - C upstream_gene_variant PRAD-UK 2 24216077 24216077 single base substitution A G intron_variant PRAD-UK 2 24218688 24218688 single base substitution T A intron_variant PRAD-UK 2 24224878 24224883 deletion of <=200bp GTCTCA - 3_prime_UTR_variant PRAD-UK 2 24224878 24224883 deletion of <=200bp GTCTCA - downstream_gene_variant PRAD-UK 2 24227671 24227671 single base substitution A G 3_prime_UTR_variant PRAD-UK 2 24227671 24227671 single base substitution A G downstream_gene_variant PRAD-UK 2 24229646 24229646 single base substitution C T downstream_gene_variant RECA-EU 2 24155605 24155605 single base substitution G A intron_variant RECA-EU 2 24157385 24157385 single base substitution T C intron_variant RECA-EU 2 24168869 24168869 single base substitution T C intron_variant RECA-EU 2 24181738 24181738 single base substitution A T intron_variant RECA-EU 2 24186355 24186355 single base substitution A G intron_variant RECA-EU 2 24196903 24196903 single base substitution G T intron_variant RECA-EU 2 24209587 24209587 single base substitution C T intron_variant RECA-EU 2 24209967 24209967 single base substitution G T intron_variant RECA-EU 2 24215310 24215310 single base substitution T A intron_variant SKCA-BR 2 24148143 24148143 single base substitution G A upstream_gene_variant SKCA-BR 2 24148144 24148144 single base substitution T A upstream_gene_variant SKCA-BR 2 24148559 24148559 single base substitution G C upstream_gene_variant SKCA-BR 2 24150513 24150513 insertion of <=200bp - GGA intron_variant SKCA-BR 2 24152666 24152666 single base substitution C T intron_variant SKCA-BR 2 24153074 24153074 single base substitution T G intron_variant SKCA-BR 2 24156808 24156808 single base substitution G T intron_variant SKCA-BR 2 24158267 24158267 insertion of <=200bp - CA intron_variant SKCA-BR 2 24167021 24167021 single base substitution C T intron_variant SKCA-BR 2 24169568 24169568 single base substitution C T intron_variant SKCA-BR 2 24171815 24171815 insertion of <=200bp - CTTT intron_variant SKCA-BR 2 24179263 24179263 single base substitution C T intron_variant SKCA-BR 2 24179628 24179628 single base substitution G C intron_variant SKCA-BR 2 24180078 24180078 single base substitution T A intron_variant SKCA-BR 2 24180730 24180730 single base substitution A T intron_variant SKCA-BR 2 24182977 24182977 single base substitution T A intron_variant SKCA-BR 2 24189620 24189621 deletion of <=200bp CT - intron_variant SKCA-BR 2 24189620 24189621 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 2 24190750 24190750 single base substitution T G intron_variant SKCA-BR 2 24190750 24190750 single base substitution T G upstream_gene_variant SKCA-BR 2 24200232 24200232 single base substitution T G downstream_gene_variant SKCA-BR 2 24200232 24200232 single base substitution T G intron_variant SKCA-BR 2 24202928 24202928 single base substitution T A downstream_gene_variant SKCA-BR 2 24202928 24202928 single base substitution T A intron_variant SKCA-BR 2 24203021 24203021 single base substitution C T downstream_gene_variant SKCA-BR 2 24203021 24203021 single base substitution C T intron_variant SKCA-BR 2 24203706 24203706 single base substitution A G downstream_gene_variant SKCA-BR 2 24203706 24203706 single base substitution A G intron_variant SKCA-BR 2 24203873 24203873 single base substitution C T downstream_gene_variant SKCA-BR 2 24203873 24203873 single base substitution C T intron_variant SKCA-BR 2 24204173 24204173 insertion of <=200bp - CAA downstream_gene_variant SKCA-BR 2 24204173 24204173 insertion of <=200bp - CAA intron_variant SKCA-BR 2 24204173 24204174 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 2 24204173 24204174 deletion of <=200bp CA - intron_variant SKCA-BR 2 24205016 24205016 single base substitution T G downstream_gene_variant SKCA-BR 2 24205016 24205016 single base substitution T G intron_variant SKCA-BR 2 24211598 24211598 single base substitution T C intron_variant SKCA-BR 2 24212176 24212176 insertion of <=200bp - CT intron_variant SKCA-BR 2 24214276 24214276 insertion of <=200bp - TACACACACACACAC intron_variant SKCA-BR 2 24216193 24216193 single base substitution C T intron_variant SKCA-BR 2 24224383 24224383 single base substitution T C 3_prime_UTR_variant SKCA-BR 2 24224383 24224383 single base substitution T C downstream_gene_variant SKCA-BR 2 24226290 24226290 single base substitution G A 3_prime_UTR_variant SKCA-BR 2 24226290 24226290 single base substitution G A downstream_gene_variant SKCA-BR 2 24226593 24226596 deletion of <=200bp CCAA - 3_prime_UTR_variant SKCA-BR 2 24226593 24226596 deletion of <=200bp CCAA - downstream_gene_variant SKCA-BR 2 24226594 24226594 single base substitution C A 3_prime_UTR_variant SKCA-BR 2 24226594 24226594 single base substitution C A downstream_gene_variant SKCA-BR 2 24232767 24232767 single base substitution G A downstream_gene_variant SKCM-US 2 24194228 24194228 single base substitution G T exon_variant SKCM-US 2 24194228 24194228 single base substitution G T stop_gained E42* 124G>T SKCM-US 2 24194228 24194228 single base substitution G T upstream_gene_variant SKCM-US 2 24194250 24194250 single base substitution C T exon_variant SKCM-US 2 24194250 24194250 single base substitution C T missense_variant S49F 146C>T SKCM-US 2 24199943 24199943 single base substitution G A exon_variant SKCM-US 2 24199943 24199943 single base substitution G A splice_region_variant SKCM-US 2 24222604 24222604 single base substitution C T exon_variant SKCM-US 2 24222604 24222604 single base substitution C T missense_variant S163F 488C>T SKCM-US 2 24222604 24222604 single base substitution C T missense_variant S216F 647C>T STAD-US 2 24149568 24149568 deletion of <=200bp C - upstream_gene_variant STAD-US 2 24194218 24194218 single base substitution T A exon_variant STAD-US 2 24194218 24194218 single base substitution T A missense_variant D38E 114T>A STAD-US 2 24194218 24194218 single base substitution T A upstream_gene_variant STAD-US 2 24205770 24205770 single base substitution T A exon_variant STAD-US 2 24205770 24205770 single base substitution T A missense_variant L98I 292T>A THCA-SA 2 24149439 24149439 single base substitution G A upstream_gene_variant UCEC-US 2 24199912 24199912 single base substitution C T exon_variant UCEC-US 2 24199912 24199912 single base substitution C T missense_variant A85V 254C>T UCEC-US 2 24207600 24207600 single base substitution T A exon_variant UCEC-US 2 24207600 24207600 single base substitution T A intron_variant UCEC-US 2 24207600 24207600 single base substitution T A missense_variant N161K 483T>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand P48 COSM328867 c.260A>T p.Q87L Substitution - Missense 2:23977048-23977048 + LS411 COSM4646685 c.751G>A p.A251T Substitution - Missense 2:23999838-23999838 + tumor_4166151 COSM5948996 c.426-5C>A p.? Unknown 2:23984668-23984668 + KM12 COSM2910002 c.165T>C p.A55A Substitution - coding silent 2:23971399-23971399 + CHC1439T COSM3668957 c.657A>G p.T219T Substitution - coding silent 2:23999744-23999744 + 259 COSM3732559 c.610G>T p.E204* Substitution - Nonsense 2:23999697-23999697 + BD114T COSM5502434 c.71C>T p.P24L Substitution - Missense 2:23971305-23971305 + HCC174 COSM3709544 c.180+1G>A p.? Unknown 2:23971415-23971415 + TCGA-18-3412-01 COSM720882 c.247G>A p.D83N Substitution - Missense 2:23977035-23977035 + PD24194a COSM5784609 c.361G>T p.E121* Substitution - Nonsense 2:23982969-23982969 + TCGA-AA-3672-01 COSM267722 c.742_743insA p.T250fs*5 Insertion - Frameshift 2:23999829-23999830 + CSCC-11-T COSM4534023 c.203G>A p.W68* Substitution - Nonsense 2:23976991-23976991 + TCGA-EE-A2GC-06 COSM3580098 c.647C>T p.S216F Substitution - Missense 2:23999734-23999734 + TCGA-EB-A553-01 COSM3580008 c.124G>T p.E42* Substitution - Nonsense 2:23971358-23971358 + T5 COSM5344156 c.482A>G p.N161S Substitution - Missense 2:23984729-23984729 + S02120 COSM5631025 c.163G>A p.A55T Substitution - Missense 2:23971397-23971397 + 61 COSM5735963 c.288-2A>C p.? Unknown 2:23982894-23982894 + TCGA-G4-6304-01 COSM1406766 c.219C>T p.T73T Substitution - coding silent 2:23977007-23977007 + 8015858 COSM3391633 c.737G>A p.R246K Substitution - Missense 2:23999824-23999824 + TCGA-18-3410-01 COSM720854 c.731T>A p.I244N Substitution - Missense 2:23999818-23999818 + 13T COSM3714177 c.325G>C p.E109Q Substitution - Missense 2:23982933-23982933 + MO_1232 COSM5559090 c.767T>G p.L256R Substitution - Missense 2:23999854-23999854 + TCGA-C5-A1BQ-01 COSM4842142 c.171G>A p.Q57Q Substitution - coding silent 2:23971405-23971405 + HCC174T COSM3709544 c.180+1G>A p.? Unknown 2:23971415-23971415 + TCGA-AP-A056-01 COSM1018854 c.483T>A p.N161K Substitution - Missense 2:23984730-23984730 + PT36 COSM5915096 c.287G>A p.G96E Substitution - Missense 2:23977075-23977075 + TCGA-85-6561-01 COSM720885 c.76G>T p.G26C Substitution - Missense 2:23971310-23971310 + OSCC-GB_00130111 COSM3714177 c.325G>C p.E109Q Substitution - Missense 2:23982933-23982933 + TCGA-GD-A3OP-01 COSM1306600 c.49G>A p.E17K Substitution - Missense 2:23971283-23971283 + PD18748a COSM5771017 c.226G>A p.D76N Substitution - Missense 2:23977014-23977014 + ESCC_BICR_010T COSM3391633 c.737G>A p.R246K Substitution - Missense 2:23999824-23999824 + TCGA-BR-6452-01 COSM4092936 c.114T>A p.D38E Substitution - Missense 2:23971348-23971348 + TCGA-DD-A1EF-01 COSM4915560 c.125A>T p.E42V Substitution - Missense 2:23971359-23971359 + TCGA-EK-A2PM-01 COSM4831472 c.420A>T p.L140L Substitution - coding silent 2:23983028-23983028 + TCGA-G9-6342-01 COSM574420 c.162C>A p.P54P Substitution - coding silent 2:23971396-23971396 + TCGA-AR-A250-01 COSM1482954 c.83A>G p.N28S Substitution - Missense 2:23971317-23971317 + TCGA-D5-6534-01 COSM1406783 c.641C>T p.P214L Substitution - Missense 2:23999728-23999728 + TCGA-CJ-4872-01 COSM3364672 c.599A>G p.K200R Substitution - Missense 2:23999686-23999686 + TCGA-BF-A3DJ-01 COSM4904334 c.146C>T p.S49F Substitution - Missense 2:23971380-23971380 + QC2-34-T2 COSM5654667 c.197A>C p.K66T Substitution - Missense 2:23976985-23976985 + TCGA-BH-A18G-01 COSM5218254 c.205delA p.N70fs*21 Deletion - Frameshift 2:23976993-23976993 + CSCC-55-T COSM4503499 c.640C>T p.P214S Substitution - Missense 2:23999727-23999727 + ESCC_57 COSM5632345 c.354G>C p.K118N Substitution - Missense 2:23982962-23982962 + ESCC_51 COSM5631025 c.163G>A p.A55T Substitution - Missense 2:23971397-23971397 + TCGA-BR-6452-01 COSM4092969 c.292T>A p.L98I Substitution - Missense 2:23982900-23982900 + CHC1207T COSM4799967 c.191A>G p.N64S Substitution - Missense 2:23976979-23976979 + TCGA-AX-A06H-01 COSM1018799 c.254C>T p.A85V Substitution - Missense 2:23977042-23977042 + Pat_16_A COSM183618 c.220G>A p.V74I Substitution - Missense 2:23977008-23977008 + TCGA-D9-A1JW-06 COSM3580015 c.285G>A p.K95K Substitution - coding silent 2:23977073-23977073 + S02248 COSM5679640 c.10G>T p.V4L Substitution - Missense 2:23958324-23958324 + T3090 COSM4738984 c.549A>G p.G183G Substitution - coding silent 2:23984796-23984796 + PTC-14C COSM4133723 c.706G>T p.A236S Substitution - Missense 2:23999793-23999793 + CHC1207T COSM4799967 c.191A>G p.N64S Substitution - Missense 2:23976979-23976979 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.591571;Hs.591576 2p23.3 2489827|CGAP|BC092484|A/G|non-coding||1232|Validated; 263444|dbSNP|BC037901|A/G|non-coding||453|Validated; 265297|dbSNP|BC037901|A/G|non-coding||453|Candidate; 2456305|dbSNP|BC037901|A/T|non-coding||443|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.K200R c.599A>G 2 24222556 RCCC A G Missense p.N28S c.83A>G 2 24194187 BRCA C T Missense p.A85V c.254C>T 2 24199912 UCEC C T Missense p.S216F c.647C>T 2 24222604 CM C T Missense p.S49F c.146C>T 2 24194250 CM C T Synonymous p.V242V c.726C>T 2 24222683 CM G A Missense p.D83N c.247G>A 2 24199905 LUSC G A Missense p.E17K c.49G>A 2 24194153 BLCA G A Missense p.E204K c.610G>A 2 24222567 HNSC G A Synonymous p.K95K c.285G>A 2 24199943 CM G C 3-UTRSNV . c.777+763G>C 2 24223497 HC G C Missense p.D201H c.601G>C 2 24222558 LUAD G C Missense p.D21H c.61G>C 2 24194165 HNSC G T Missense p.G26C c.76G>T 2 24194180 LUSC G T Missense p.L124F c.372G>T 2 24205850 LUAD T A Missense p.I244N c.731T>A 2 24222688 LUSC T C IntronicSNV . c.1-83T>C 2 24181102 NSCLC