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 12 57637672 57637672 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 g.chr12:57637672C>T c.1018G>A c.(1018-1020)Gaa>Aaa p.E340K BLCA 12 57637672 57637672 + Nonsense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 g.chr12:57637672C>A c.1018G>T c.(1018-1020)Gaa>Taa p.E340* BLCA 12 57637690 57637690 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 g.chr12:57637690C>T c.1000G>A c.(1000-1002)Gtg>Atg p.V334M BLCA 12 57637894 57637894 + Nonsense_Mutation SNP G G A TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 g.chr12:57637894G>A c.973C>T c.(973-975)Cag>Tag p.Q325* BLCA 12 57638099 57638099 + Splice_Site SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 g.chr12:57638099C>T c.857G>A c.(856-858)cGg>cAg p.R286Q BLCA 12 57638146 57638146 + Silent SNP T T A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 g.chr12:57638146T>A c.810A>T c.(808-810)ccA>ccT p.P270P BLCA 12 57638328 57638328 + Silent SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 g.chr12:57638328C>G c.798G>C c.(796-798)ctG>ctC p.L266L BLCA 12 57638949 57638949 + Missense_Mutation SNP C C G TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 g.chr12:57638949C>G c.649G>C c.(649-651)Gag>Cag p.E217Q BLCA 12 57642507 57642507 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 g.chr12:57642507C>G c.414G>C c.(412-414)caG>caC p.Q138H BLCA 12 57642566 57642566 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 g.chr12:57642566G>A c.355C>T c.(355-357)Cgc>Tgc p.R119C BRCA 12 57637603 57637603 + Missense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 g.chr12:57637603C>G c.1087G>C c.(1087-1089)Gaa>Caa p.E363Q BRCA 12 57638000 57638000 + Silent SNP G G A TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 g.chr12:57638000G>A c.867C>T c.(865-867)atC>atT p.I289I COAD 12 57637668 57637668 + Missense_Mutation SNP G G A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr12:57637668G>A c.1022C>T c.(1021-1023)gCg>gTg p.A341V COAD 12 57637919 57637919 + Silent SNP G G T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr12:57637919G>T c.948C>A c.(946-948)tcC>tcA p.S316S COAD 12 57638346 57638346 + Silent SNP G G T TCGA-AA-A01D-01A-01W-A00E-09 TCGA-AA-A01D-10A-01W-A00E-09 g.chr12:57638346G>T c.780C>A c.(778-780)gcC>gcA p.A260A COAD 12 57640631 57640631 + Missense_Mutation SNP T T C TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr12:57640631T>C c.559A>G c.(559-561)Atg>Gtg p.M187V COAD 12 57642942 57642942 + Silent SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr12:57642942C>T c.216G>A c.(214-216)gaG>gaA p.E72E COAD 12 57643044 57643044 + Missense_Mutation SNP C C A TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr12:57643044C>A c.114G>T c.(112-114)aaG>aaT p.K38N COADREAD 12 57637668 57637668 + Missense_Mutation SNP G G A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr12:57637668G>A c.1022C>T c.(1021-1023)gCg>gTg p.A341V COADREAD 12 57637919 57637919 + Silent SNP G G T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr12:57637919G>T c.948C>A c.(946-948)tcC>tcA p.S316S COADREAD 12 57638346 57638346 + Silent SNP G G T TCGA-AA-A01D-01A-01W-A00E-09 TCGA-AA-A01D-10A-01W-A00E-09 g.chr12:57638346G>T c.780C>A c.(778-780)gcC>gcA p.A260A COADREAD 12 57640631 57640631 + Missense_Mutation SNP T T C TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr12:57640631T>C c.559A>G c.(559-561)Atg>Gtg p.M187V COADREAD 12 57642942 57642942 + Silent SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr12:57642942C>T c.216G>A c.(214-216)gaG>gaA p.E72E COADREAD 12 57643044 57643044 + Missense_Mutation SNP C C A TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr12:57643044C>A c.114G>T c.(112-114)aaG>aaT p.K38N ESCA 12 57643391 57643391 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 g.chr12:57643391G>T c.29C>A c.(28-30)cCt>cAt p.P10H GBM 12 57642900 57642900 + Silent SNP G G A TCGA-27-1833-01A-01W-0643-08 TCGA-27-1833-10A-01W-0644-08 g.chr12:57642900G>A c.258C>T c.(256-258)aaC>aaT p.N86N GBMLGG 12 57642553 57642553 + Missense_Mutation SNP C C T TCGA-S9-A6U9-01A-11D-A32B-08 TCGA-S9-A6U9-10A-01D-A329-08 g.chr12:57642553C>T c.368G>A c.(367-369)tGc>tAc p.C123Y GBMLGG 12 57642900 57642900 + Silent SNP G G A TCGA-27-1833-01A-01W-0643-08 TCGA-27-1833-10A-01W-0644-08 g.chr12:57642900G>A c.258C>T c.(256-258)aaC>aaT p.N86N HNSC 12 57640593 57640593 + Missense_Mutation SNP C C G TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 g.chr12:57640593C>G c.597G>C c.(595-597)aaG>aaC p.K199N HNSC 12 57640658 57640659 + Frame_Shift_Del DEL AC AC - TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 g.chr12:57640658_57640659delAC c.531_532delGT c.(529-534)gtgtttfs p.F178fs HNSC 12 57642941 57642941 + Missense_Mutation SNP C C G TCGA-CQ-5326-01A-01D-1870-08 TCGA-CQ-5326-10A-01D-1870-08 g.chr12:57642941C>G c.217G>C c.(217-219)Gag>Cag p.E73Q LGG 12 57642553 57642553 + Missense_Mutation SNP C C T TCGA-S9-A6U9-01A-11D-A32B-08 TCGA-S9-A6U9-10A-01D-A329-08 g.chr12:57642553C>T c.368G>A c.(367-369)tGc>tAc p.C123Y LIHC 12 57640644 57640644 + Silent SNP G G A TCGA-RC-A6M6-01A-11D-A32G-10 TCGA-RC-A6M6-10A-01D-A32G-10 g.chr12:57640644G>A c.546C>T c.(544-546)cgC>cgT p.R182R LIHC 12 57642930 57642930 + Silent SNP C C T TCGA-DD-AACJ-01A-11D-A40R-10 TCGA-DD-AACJ-10A-01D-A40U-10 g.chr12:57642930C>T c.228G>A c.(226-228)gaG>gaA p.E76E LUAD 12 57641974 57641974 + Missense_Mutation SNP C C A TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 g.chr12:57641974C>A c.440G>T c.(439-441)gGt>gTt p.G147V LUAD 12 57642487 57642487 + Splice_Site SNP A A G TCGA-55-7995-01A-11D-2184-08 TCGA-55-7995-10A-01D-2184-08 g.chr12:57642487A>G c.e4+1 LUAD 12 57642836 57642836 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 g.chr12:57642836G>C c.322C>G c.(322-324)Cgg>Ggg p.R108G LUAD 12 57643084 57643084 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr12:57643084C>T c.74G>A c.(73-75)cGg>cAg p.R25Q LUSC 12 57638117 57638117 + Missense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr12:57638117G>A c.839C>T c.(838-840)tCc>tTc p.S280F OV 12 57637954 57637954 + Missense_Mutation SNP G G A TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 g.chr12:57637954G>A c.913C>T c.(913-915)Cgg>Tgg p.R305W OV 12 57643044 57643044 + Missense_Mutation SNP C C A TCGA-36-1571-01A-01W-0615-10 TCGA-36-1571-10A-01W-0615-10 g.chr12:57643044C>A c.114G>T c.(112-114)aaG>aaT p.K38N PAAD 12 57642585 57642585 + Splice_Site SNP G G A TCGA-LB-A7SX-01A-11D-A33T-08 TCGA-LB-A7SX-10A-01D-A33W-08 g.chr12:57642585G>A c.336C>T c.(334-336)ctC>ctT p.L112L PCPG 12 57642487 57642487 + Splice_Site SNP A A C TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 g.chr12:57642487A>C c.e4+1 PCPG 12 57642948 57642948 + Silent SNP T T C TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 g.chr12:57642948T>C c.210A>G c.(208-210)gaA>gaG p.E70E PCPG 12 57643383 57643383 + Missense_Mutation SNP A A G TCGA-SP-A6QG-01A-12D-A35I-08 TCGA-SP-A6QG-10A-01D-A35G-08 g.chr12:57643383A>G c.37T>C c.(37-39)Tcc>Ccc p.S13P PRAD 12 57640646 57640646 + Missense_Mutation SNP G G A TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 g.chr12:57640646G>A c.544C>T c.(544-546)Cgc>Tgc p.R182C SKCM 12 57638321 57638321 + Splice_Site SNP G G T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr12:57638321G>T c.805C>A c.(805-807)Ccg>Acg p.P269T SKCM 12 57640632 57640632 + Silent SNP G G A TCGA-DA-A1HW-06A-11D-A19A-08 TCGA-DA-A1HW-10A-01D-A19A-08 g.chr12:57640632G>A c.558C>T c.(556-558)atC>atT p.I186I SKCM 12 57642489 57642489 + Splice_Site SNP G G A TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr12:57642489G>A c.432C>T c.(430-432)atC>atT p.I144I SKCM 12 57642935 57642935 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:57642935C>T c.223G>A c.(223-225)Gag>Aag p.E75K SKCM 12 57643365 57643365 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:57643365G>A c.55C>T c.(55-57)Cgg>Tgg p.R19W SKCM 12 57643378 57643378 + Silent SNP G G A TCGA-EE-A2GH-06A-11D-A196-08 TCGA-EE-A2GH-10A-01D-A198-08 g.chr12:57643378G>A c.42C>T c.(40-42)ttC>ttT p.F14F

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 12 57648757 57648757 single base substitution A C upstream_gene_variant BLCA-US 12 57637672 57637672 single base substitution C A 3_prime_UTR_variant BLCA-US 12 57637672 57637672 single base substitution C A downstream_gene_variant BLCA-US 12 57637672 57637672 single base substitution C A stop_gained E154* 460G>T BLCA-US 12 57637672 57637672 single base substitution C A stop_gained E301* 901G>T BLCA-US 12 57637672 57637672 single base substitution C A stop_gained E340* 1018G>T BLCA-US 12 57637672 57637672 single base substitution C T 3_prime_UTR_variant BLCA-US 12 57637672 57637672 single base substitution C T downstream_gene_variant BLCA-US 12 57637672 57637672 single base substitution C T missense_variant E154K 460G>A BLCA-US 12 57637672 57637672 single base substitution C T missense_variant E301K 901G>A BLCA-US 12 57637672 57637672 single base substitution C T missense_variant E340K 1018G>A BLCA-US 12 57637894 57637894 single base substitution G A 3_prime_UTR_variant BLCA-US 12 57637894 57637894 single base substitution G A downstream_gene_variant BLCA-US 12 57637894 57637894 single base substitution G A stop_gained Q139* 415C>T BLCA-US 12 57637894 57637894 single base substitution G A stop_gained Q286* 856C>T BLCA-US 12 57637894 57637894 single base substitution G A stop_gained Q325* 973C>T BLCA-US 12 57638099 57638099 single base substitution C T downstream_gene_variant BLCA-US 12 57638099 57638099 single base substitution C T missense_variant R100Q 299G>A BLCA-US 12 57638099 57638099 single base substitution C T missense_variant R247Q 740G>A BLCA-US 12 57638099 57638099 single base substitution C T missense_variant R286Q 857G>A BLCA-US 12 57638099 57638099 single base substitution C T splice_region_variant BLCA-US 12 57638146 57638146 single base substitution T A downstream_gene_variant BLCA-US 12 57638146 57638146 single base substitution T A exon_variant BLCA-US 12 57638146 57638146 single base substitution T A synonymous_variant P231P 693A>T BLCA-US 12 57638146 57638146 single base substitution T A synonymous_variant P270P 810A>T BLCA-US 12 57638146 57638146 single base substitution T A synonymous_variant P84P 252A>T BLCA-US 12 57638949 57638949 single base substitution C G downstream_gene_variant BLCA-US 12 57638949 57638949 single base substitution C G exon_variant BLCA-US 12 57638949 57638949 single base substitution C G intron_variant BLCA-US 12 57638949 57638949 single base substitution C G missense_variant E178Q 532G>C BLCA-US 12 57638949 57638949 single base substitution C G missense_variant E217Q 649G>C BLCA-US 12 57638949 57638949 single base substitution C G missense_variant E31Q 91G>C BLCA-US 12 57648809 57648809 single base substitution G C upstream_gene_variant BRCA-EU 12 57632408 57632408 single base substitution G A downstream_gene_variant BRCA-EU 12 57632975 57632975 single base substitution G C downstream_gene_variant BRCA-EU 12 57634063 57634063 single base substitution G T downstream_gene_variant BRCA-EU 12 57634557 57634557 single base substitution C A downstream_gene_variant BRCA-EU 12 57636436 57636436 deletion of <=200bp C - downstream_gene_variant BRCA-EU 12 57636615 57636615 single base substitution T C downstream_gene_variant BRCA-EU 12 57637691 57637691 single base substitution G A downstream_gene_variant BRCA-EU 12 57637691 57637691 single base substitution G A splice_region_variant BRCA-EU 12 57638177 57638177 single base substitution C G downstream_gene_variant BRCA-EU 12 57638177 57638177 single base substitution C G intron_variant BRCA-EU 12 57639134 57639134 single base substitution T C downstream_gene_variant BRCA-EU 12 57639134 57639134 single base substitution T C intron_variant BRCA-EU 12 57639221 57639221 single base substitution C G downstream_gene_variant BRCA-EU 12 57639221 57639221 single base substitution C G intron_variant BRCA-EU 12 57639565 57639565 single base substitution C T downstream_gene_variant BRCA-EU 12 57639565 57639565 single base substitution C T intron_variant BRCA-EU 12 57639812 57639812 single base substitution G C downstream_gene_variant BRCA-EU 12 57639812 57639812 single base substitution G C intron_variant BRCA-EU 12 57641109 57641109 single base substitution C T downstream_gene_variant BRCA-EU 12 57641109 57641109 single base substitution C T intron_variant BRCA-EU 12 57641674 57641674 deletion of <=200bp C - downstream_gene_variant BRCA-EU 12 57641674 57641674 deletion of <=200bp C - intron_variant BRCA-EU 12 57642059 57642059 single base substitution C G downstream_gene_variant BRCA-EU 12 57642059 57642059 single base substitution C G exon_variant BRCA-EU 12 57642059 57642059 single base substitution C G intron_variant BRCA-EU 12 57642060 57642060 single base substitution C A downstream_gene_variant BRCA-EU 12 57642060 57642060 single base substitution C A exon_variant BRCA-EU 12 57642060 57642060 single base substitution C A intron_variant BRCA-EU 12 57644395 57644395 single base substitution C T intron_variant BRCA-EU 12 57644395 57644395 single base substitution C T upstream_gene_variant BRCA-EU 12 57645517 57645517 single base substitution T C upstream_gene_variant BRCA-EU 12 57646581 57646581 single base substitution C A upstream_gene_variant BRCA-EU 12 57647075 57647075 single base substitution G A upstream_gene_variant BRCA-EU 12 57647945 57647945 single base substitution G A upstream_gene_variant BRCA-EU 12 57648365 57648365 single base substitution C A upstream_gene_variant BRCA-EU 12 57648407 57648407 single base substitution A G upstream_gene_variant BRCA-EU 12 57649286 57649286 single base substitution C T upstream_gene_variant BRCA-EU 12 57649539 57649610 deletion of <=200bp ACTCCCATAATTGTGTTATTCCCACTTTTTACCATGATCTTCCTCAGAATCTGAGATGGCTTGGTAGGGAGG - upstream_gene_variant BRCA-FR 12 57634063 57634063 single base substitution G T downstream_gene_variant BRCA-FR 12 57637691 57637691 single base substitution G A downstream_gene_variant BRCA-FR 12 57637691 57637691 single base substitution G A splice_region_variant BRCA-FR 12 57648365 57648365 single base substitution C A upstream_gene_variant BRCA-FR 12 57648407 57648407 single base substitution A G upstream_gene_variant BRCA-UK 12 57642060 57642060 single base substitution C A downstream_gene_variant BRCA-UK 12 57642060 57642060 single base substitution C A exon_variant BRCA-UK 12 57642060 57642060 single base substitution C A intron_variant BRCA-UK 12 57643036 57643036 single base substitution T A exon_variant BRCA-UK 12 57643036 57643036 single base substitution T A intron_variant BRCA-UK 12 57643036 57643036 single base substitution T A missense_variant E2V 5A>T BRCA-UK 12 57643036 57643036 single base substitution T A missense_variant E41V 122A>T BRCA-UK 12 57643036 57643036 single base substitution T A upstream_gene_variant BRCA-UK 12 57643037 57643037 single base substitution C A exon_variant BRCA-UK 12 57643037 57643037 single base substitution C A intron_variant BRCA-UK 12 57643037 57643037 single base substitution C A stop_gained E2* 4G>T BRCA-UK 12 57643037 57643037 single base substitution C A stop_gained E41* 121G>T BRCA-UK 12 57643037 57643037 single base substitution C A upstream_gene_variant BRCA-US 12 57637603 57637603 single base substitution C G 3_prime_UTR_variant BRCA-US 12 57637603 57637603 single base substitution C G downstream_gene_variant BRCA-US 12 57637603 57637603 single base substitution C G missense_variant E177Q 529G>C BRCA-US 12 57637603 57637603 single base substitution C G missense_variant E324Q 970G>C BRCA-US 12 57637603 57637603 single base substitution C G missense_variant E363Q 1087G>C BRCA-US 12 57638000 57638000 single base substitution G A downstream_gene_variant BRCA-US 12 57638000 57638000 single base substitution G A exon_variant BRCA-US 12 57638000 57638000 single base substitution G A synonymous_variant I103I 309C>T BRCA-US 12 57638000 57638000 single base substitution G A synonymous_variant I250I 750C>T BRCA-US 12 57638000 57638000 single base substitution G A synonymous_variant I289I 867C>T BRCA-US 12 57648837 57648837 single base substitution C T upstream_gene_variant BTCA-JP 12 57638168 57638168 single base substitution G A downstream_gene_variant BTCA-JP 12 57638168 57638168 single base substitution G A intron_variant BTCA-JP 12 57638703 57638703 single base substitution T C downstream_gene_variant BTCA-JP 12 57638703 57638703 single base substitution T C exon_variant BTCA-JP 12 57638703 57638703 single base substitution T C missense_variant D200G 599A>G BTCA-JP 12 57638703 57638703 single base substitution T C missense_variant D239G 716A>G BTCA-JP 12 57638703 57638703 single base substitution T C missense_variant D53G 158A>G BTCA-JP 12 57640646 57640646 single base substitution G A 5_prime_UTR_variant BTCA-JP 12 57640646 57640646 single base substitution G A downstream_gene_variant BTCA-JP 12 57640646 57640646 single base substitution G A exon_variant BTCA-JP 12 57640646 57640646 single base substitution G A missense_variant R143C 427C>T BTCA-JP 12 57640646 57640646 single base substitution G A missense_variant R182C 544C>T CLLE-ES 12 57635337 57635337 single base substitution C T downstream_gene_variant CLLE-ES 12 57647827 57647827 single base substitution A G upstream_gene_variant COAD-US 12 57637668 57637668 single base substitution G A 3_prime_UTR_variant COAD-US 12 57637668 57637668 single base substitution G A downstream_gene_variant COAD-US 12 57637668 57637668 single base substitution G A missense_variant A155V 464C>T COAD-US 12 57637668 57637668 single base substitution G A missense_variant A302V 905C>T COAD-US 12 57637668 57637668 single base substitution G A missense_variant A341V 1022C>T COAD-US 12 57637919 57637919 single base substitution G T 3_prime_UTR_variant COAD-US 12 57637919 57637919 single base substitution G T downstream_gene_variant COAD-US 12 57637919 57637919 single base substitution G T synonymous_variant S130S 390C>A COAD-US 12 57637919 57637919 single base substitution G T synonymous_variant S277S 831C>A COAD-US 12 57637919 57637919 single base substitution G T synonymous_variant S316S 948C>A COAD-US 12 57638357 57638357 single base substitution G A downstream_gene_variant COAD-US 12 57638357 57638357 single base substitution G A exon_variant COAD-US 12 57638357 57638357 single base substitution G A missense_variant R218W 652C>T COAD-US 12 57638357 57638357 single base substitution G A missense_variant R257W 769C>T COAD-US 12 57638357 57638357 single base substitution G A missense_variant R71W 211C>T COAD-US 12 57640631 57640631 single base substitution T C downstream_gene_variant COAD-US 12 57640631 57640631 single base substitution T C exon_variant COAD-US 12 57640631 57640631 single base substitution T C missense_variant M148V 442A>G COAD-US 12 57640631 57640631 single base substitution T C missense_variant M187V 559A>G COAD-US 12 57640631 57640631 single base substitution T C start_lost M1V 1A>G COAD-US 12 57642942 57642942 single base substitution C T exon_variant COAD-US 12 57642942 57642942 single base substitution C T intron_variant COAD-US 12 57642942 57642942 single base substitution C T synonymous_variant E33E 99G>A COAD-US 12 57642942 57642942 single base substitution C T synonymous_variant E72E 216G>A COAD-US 12 57642942 57642942 single base substitution C T upstream_gene_variant COAD-US 12 57643044 57643044 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant COAD-US 12 57643044 57643044 single base substitution C A exon_variant COAD-US 12 57643044 57643044 single base substitution C A intron_variant COAD-US 12 57643044 57643044 single base substitution C A missense_variant K38N 114G>T COAD-US 12 57643044 57643044 single base substitution C A upstream_gene_variant COAD-US 12 57648612 57648612 single base substitution G A upstream_gene_variant COAD-US 12 57648644 57648644 single base substitution C T upstream_gene_variant COAD-US 12 57648749 57648749 insertion of <=200bp - C upstream_gene_variant COAD-US 12 57648750 57648750 deletion of <=200bp C - upstream_gene_variant COAD-US 12 57649840 57649840 single base substitution C T upstream_gene_variant COCA-CN 12 57637440 57637440 single base substitution G T 3_prime_UTR_variant COCA-CN 12 57637440 57637440 single base substitution G T downstream_gene_variant COCA-CN 12 57637614 57637614 single base substitution T C 3_prime_UTR_variant COCA-CN 12 57637614 57637614 single base substitution T C downstream_gene_variant COCA-CN 12 57637614 57637614 single base substitution T C missense_variant D173G 518A>G COCA-CN 12 57637614 57637614 single base substitution T C missense_variant D320G 959A>G COCA-CN 12 57637614 57637614 single base substitution T C missense_variant D359G 1076A>G COCA-CN 12 57638495 57638495 single base substitution C A downstream_gene_variant COCA-CN 12 57638495 57638495 single base substitution C A intron_variant COCA-CN 12 57638532 57638532 single base substitution G T downstream_gene_variant COCA-CN 12 57638532 57638532 single base substitution G T intron_variant COCA-CN 12 57640673 57640673 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant COCA-CN 12 57640673 57640673 single base substitution G A downstream_gene_variant COCA-CN 12 57640673 57640673 single base substitution G A exon_variant COCA-CN 12 57640673 57640673 single base substitution G A missense_variant R134C 400C>T COCA-CN 12 57640673 57640673 single base substitution G A missense_variant R173C 517C>T COCA-CN 12 57647986 57647986 single base substitution G T upstream_gene_variant COCA-CN 12 57648757 57648757 single base substitution A C upstream_gene_variant COCA-CN 12 57649953 57649953 single base substitution C A upstream_gene_variant ESAD-UK 12 57633806 57633806 single base substitution G A downstream_gene_variant ESAD-UK 12 57635574 57635574 single base substitution G A downstream_gene_variant ESAD-UK 12 57637142 57637142 single base substitution G A downstream_gene_variant ESAD-UK 12 57638764 57638764 single base substitution C T downstream_gene_variant ESAD-UK 12 57638764 57638764 single base substitution C T intron_variant ESAD-UK 12 57638952 57638952 single base substitution G C downstream_gene_variant ESAD-UK 12 57638952 57638952 single base substitution G C exon_variant ESAD-UK 12 57638952 57638952 single base substitution G C intron_variant ESAD-UK 12 57638952 57638952 single base substitution G C missense_variant P177A 529C>G ESAD-UK 12 57638952 57638952 single base substitution G C missense_variant P216A 646C>G ESAD-UK 12 57638952 57638952 single base substitution G C missense_variant P30A 88C>G ESAD-UK 12 57640799 57640799 single base substitution G A downstream_gene_variant ESAD-UK 12 57640799 57640799 single base substitution G A intron_variant ESAD-UK 12 57644538 57644538 single base substitution T A intron_variant ESAD-UK 12 57644538 57644538 single base substitution T A upstream_gene_variant ESAD-UK 12 57644611 57644611 deletion of <=200bp C - intron_variant ESAD-UK 12 57644611 57644611 deletion of <=200bp C - upstream_gene_variant ESAD-UK 12 57644626 57644626 single base substitution C A intron_variant ESAD-UK 12 57644626 57644626 single base substitution C A upstream_gene_variant ESAD-UK 12 57648750 57648750 deletion of <=200bp C - upstream_gene_variant ESCA-CN 12 57642527 57642527 single base substitution G T downstream_gene_variant ESCA-CN 12 57642527 57642527 single base substitution G T intron_variant ESCA-CN 12 57642527 57642527 single base substitution G T missense_variant Q132K 394C>A ESCA-CN 12 57642527 57642527 single base substitution G T missense_variant Q93K 277C>A ESCA-CN 12 57642527 57642527 single base substitution G T upstream_gene_variant GBM-US 12 57642900 57642900 single base substitution G A exon_variant GBM-US 12 57642900 57642900 single base substitution G A intron_variant GBM-US 12 57642900 57642900 single base substitution G A synonymous_variant N47N 141C>T GBM-US 12 57642900 57642900 single base substitution G A synonymous_variant N86N 258C>T GBM-US 12 57642900 57642900 single base substitution G A upstream_gene_variant GBM-US 12 57648757 57648757 single base substitution A C upstream_gene_variant KIRC-US 12 57648628 57648628 single base substitution C G upstream_gene_variant KIRP-US 12 57648792 57648792 single base substitution A C upstream_gene_variant LAML-KR 12 57635259 57635259 single base substitution C T downstream_gene_variant LAML-KR 12 57637593 57637593 single base substitution G A 3_prime_UTR_variant LAML-KR 12 57637593 57637593 single base substitution G A downstream_gene_variant LICA-CN 12 57641918 57641918 single base substitution T C 5_prime_UTR_variant LICA-CN 12 57641918 57641918 single base substitution T C downstream_gene_variant LICA-CN 12 57641918 57641918 single base substitution T C exon_variant LICA-CN 12 57641918 57641918 single base substitution T C missense_variant K127E 379A>G LICA-CN 12 57641918 57641918 single base substitution T C missense_variant K166E 496A>G LICA-FR 12 57642988 57642988 single base substitution C A exon_variant LICA-FR 12 57642988 57642988 single base substitution C A intron_variant LICA-FR 12 57642988 57642988 single base substitution C A missense_variant G18V 53G>T LICA-FR 12 57642988 57642988 single base substitution C A missense_variant G57V 170G>T LICA-FR 12 57642988 57642988 single base substitution C A upstream_gene_variant LICA-FR 12 57642990 57642990 single base substitution C G exon_variant LICA-FR 12 57642990 57642990 single base substitution C G intron_variant LICA-FR 12 57642990 57642990 single base substitution C G synonymous_variant G17G 51G>C LICA-FR 12 57642990 57642990 single base substitution C G synonymous_variant G56G 168G>C LICA-FR 12 57642990 57642990 single base substitution C G upstream_gene_variant LINC-JP 12 57648478 57648478 single base substitution C G upstream_gene_variant LINC-JP 12 57648794 57648794 single base substitution T C upstream_gene_variant LIRI-JP 12 57634199 57634200 deletion of <=200bp GC - downstream_gene_variant LIRI-JP 12 57638319 57638319 single base substitution C G downstream_gene_variant LIRI-JP 12 57638319 57638319 single base substitution C G splice_donor_variant LIRI-JP 12 57639257 57639257 single base substitution C A downstream_gene_variant LIRI-JP 12 57639257 57639257 single base substitution C A intron_variant LIRI-JP 12 57645423 57645423 single base substitution G A upstream_gene_variant LIRI-JP 12 57646140 57646140 single base substitution G A upstream_gene_variant LIRI-JP 12 57649880 57649880 single base substitution C G upstream_gene_variant LIRI-JP 12 57649935 57649935 single base substitution T C upstream_gene_variant LUSC-KR 12 57635312 57635312 single base substitution T C downstream_gene_variant LUSC-KR 12 57637593 57637593 single base substitution G A 3_prime_UTR_variant LUSC-KR 12 57637593 57637593 single base substitution G A downstream_gene_variant LUSC-KR 12 57640051 57640051 single base substitution C T downstream_gene_variant LUSC-KR 12 57640051 57640051 single base substitution C T intron_variant LUSC-KR 12 57640318 57640318 single base substitution C A downstream_gene_variant LUSC-KR 12 57640318 57640318 single base substitution C A intron_variant LUSC-KR 12 57640319 57640319 single base substitution C A downstream_gene_variant LUSC-KR 12 57640319 57640319 single base substitution C A intron_variant LUSC-KR 12 57644767 57644767 single base substitution G T intron_variant LUSC-KR 12 57644767 57644767 single base substitution G T upstream_gene_variant LUSC-KR 12 57649840 57649840 single base substitution C T upstream_gene_variant LUSC-US 12 57638117 57638117 single base substitution G A downstream_gene_variant LUSC-US 12 57638117 57638117 single base substitution G A exon_variant LUSC-US 12 57638117 57638117 single base substitution G A missense_variant S241F 722C>T LUSC-US 12 57638117 57638117 single base substitution G A missense_variant S280F 839C>T LUSC-US 12 57638117 57638117 single base substitution G A missense_variant S94F 281C>T MALY-DE 12 57641441 57641441 single base substitution C G downstream_gene_variant MALY-DE 12 57641441 57641441 single base substitution C G intron_variant MELA-AU 12 57633006 57633007 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 12 57633027 57633028 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 12 57634181 57634181 single base substitution G A downstream_gene_variant MELA-AU 12 57634346 57634346 single base substitution G A downstream_gene_variant MELA-AU 12 57635733 57635733 single base substitution G A downstream_gene_variant MELA-AU 12 57636111 57636111 single base substitution C T downstream_gene_variant MELA-AU 12 57636556 57636556 single base substitution C T downstream_gene_variant MELA-AU 12 57636900 57636900 single base substitution G A downstream_gene_variant MELA-AU 12 57637218 57637219 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 12 57637519 57637519 single base substitution C T 3_prime_UTR_variant MELA-AU 12 57637519 57637519 single base substitution C T downstream_gene_variant MELA-AU 12 57637770 57637770 single base substitution T A downstream_gene_variant MELA-AU 12 57637770 57637770 single base substitution T A intron_variant MELA-AU 12 57638458 57638458 single base substitution G A downstream_gene_variant MELA-AU 12 57638458 57638458 single base substitution G A intron_variant MELA-AU 12 57638542 57638542 single base substitution G A downstream_gene_variant MELA-AU 12 57638542 57638542 single base substitution G A exon_variant MELA-AU 12 57638542 57638542 single base substitution G A intron_variant MELA-AU 12 57639841 57639841 single base substitution G A downstream_gene_variant MELA-AU 12 57639841 57639841 single base substitution G A intron_variant MELA-AU 12 57640034 57640034 single base substitution A G downstream_gene_variant MELA-AU 12 57640034 57640034 single base substitution A G intron_variant MELA-AU 12 57640173 57640173 single base substitution C T downstream_gene_variant MELA-AU 12 57640173 57640173 single base substitution C T intron_variant MELA-AU 12 57640194 57640194 single base substitution G A downstream_gene_variant MELA-AU 12 57640194 57640194 single base substitution G A intron_variant MELA-AU 12 57640814 57640814 single base substitution G A downstream_gene_variant MELA-AU 12 57640814 57640814 single base substitution G A intron_variant MELA-AU 12 57640815 57640815 single base substitution G A downstream_gene_variant MELA-AU 12 57640815 57640815 single base substitution G A intron_variant MELA-AU 12 57641241 57641241 single base substitution G A downstream_gene_variant MELA-AU 12 57641241 57641241 single base substitution G A intron_variant MELA-AU 12 57641247 57641247 single base substitution C T downstream_gene_variant MELA-AU 12 57641247 57641247 single base substitution C T intron_variant MELA-AU 12 57641266 57641266 single base substitution G A downstream_gene_variant MELA-AU 12 57641266 57641266 single base substitution G A intron_variant MELA-AU 12 57641560 57641560 single base substitution C T downstream_gene_variant MELA-AU 12 57641560 57641560 single base substitution C T intron_variant MELA-AU 12 57641970 57641970 single base substitution G A 5_prime_UTR_variant MELA-AU 12 57641970 57641970 single base substitution G A downstream_gene_variant MELA-AU 12 57641970 57641970 single base substitution G A exon_variant MELA-AU 12 57641970 57641970 single base substitution G A synonymous_variant F109F 327C>T MELA-AU 12 57641970 57641970 single base substitution G A synonymous_variant F148F 444C>T MELA-AU 12 57641988 57641988 single base substitution G A downstream_gene_variant MELA-AU 12 57641988 57641988 single base substitution G A exon_variant MELA-AU 12 57641988 57641988 single base substitution G A intron_variant MELA-AU 12 57641988 57641988 single base substitution G A splice_region_variant MELA-AU 12 57642111 57642111 single base substitution G A downstream_gene_variant MELA-AU 12 57642111 57642111 single base substitution G A exon_variant MELA-AU 12 57642111 57642111 single base substitution G A intron_variant MELA-AU 12 57642962 57642962 single base substitution C T exon_variant MELA-AU 12 57642962 57642962 single base substitution C T intron_variant MELA-AU 12 57642962 57642962 single base substitution C T missense_variant E27K 79G>A MELA-AU 12 57642962 57642962 single base substitution C T missense_variant E66K 196G>A MELA-AU 12 57642962 57642962 single base substitution C T upstream_gene_variant MELA-AU 12 57643050 57643050 single base substitution C T 5_prime_UTR_variant MELA-AU 12 57643050 57643050 single base substitution C T exon_variant MELA-AU 12 57643050 57643050 single base substitution C T intron_variant MELA-AU 12 57643050 57643050 single base substitution C T synonymous_variant G36G 108G>A MELA-AU 12 57643050 57643050 single base substitution C T upstream_gene_variant MELA-AU 12 57643141 57643141 single base substitution C T intron_variant MELA-AU 12 57643141 57643141 single base substitution C T upstream_gene_variant MELA-AU 12 57643208 57643208 single base substitution G A intron_variant MELA-AU 12 57643208 57643208 single base substitution G A upstream_gene_variant MELA-AU 12 57643378 57643378 single base substitution G A exon_variant MELA-AU 12 57643378 57643378 single base substitution G A intron_variant MELA-AU 12 57643378 57643378 single base substitution G A synonymous_variant F14F 42C>T MELA-AU 12 57643378 57643378 single base substitution G A upstream_gene_variant MELA-AU 12 57643753 57643753 single base substitution G A intron_variant MELA-AU 12 57643753 57643753 single base substitution G A upstream_gene_variant MELA-AU 12 57644489 57644489 single base substitution G A intron_variant MELA-AU 12 57644489 57644489 single base substitution G A upstream_gene_variant MELA-AU 12 57644812 57644812 single base substitution G A 5_prime_UTR_variant MELA-AU 12 57644812 57644812 single base substitution G A exon_variant MELA-AU 12 57644812 57644812 single base substitution G A upstream_gene_variant MELA-AU 12 57645176 57645177 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 57645486 57645486 single base substitution G A upstream_gene_variant MELA-AU 12 57647905 57647905 single base substitution G A upstream_gene_variant MELA-AU 12 57647914 57647914 single base substitution G A upstream_gene_variant MELA-AU 12 57648065 57648065 single base substitution C T upstream_gene_variant MELA-AU 12 57649093 57649093 single base substitution A G upstream_gene_variant MELA-AU 12 57649098 57649098 single base substitution T A upstream_gene_variant MELA-AU 12 57649491 57649491 single base substitution G A upstream_gene_variant MELA-AU 12 57649606 57649606 single base substitution G A upstream_gene_variant ORCA-IN 12 57638827 57638827 single base substitution C T downstream_gene_variant ORCA-IN 12 57638827 57638827 single base substitution C T intron_variant OV-AU 12 57635155 57635155 single base substitution C T downstream_gene_variant OV-AU 12 57637155 57637155 single base substitution C G downstream_gene_variant OV-AU 12 57643283 57643283 single base substitution T C intron_variant OV-AU 12 57643283 57643283 single base substitution T C upstream_gene_variant PACA-AU 12 57632664 57632664 single base substitution C G downstream_gene_variant PACA-AU 12 57633952 57633952 single base substitution G C downstream_gene_variant PACA-AU 12 57635266 57635266 single base substitution G A downstream_gene_variant PACA-AU 12 57638745 57638745 single base substitution T G downstream_gene_variant PACA-AU 12 57638745 57638745 single base substitution T G exon_variant PACA-AU 12 57638745 57638745 single base substitution T G missense_variant N186T 557A>C PACA-AU 12 57638745 57638745 single base substitution T G missense_variant N225T 674A>C PACA-AU 12 57638745 57638745 single base substitution T G missense_variant N39T 116A>C PACA-AU 12 57642133 57642133 single base substitution G T downstream_gene_variant PACA-AU 12 57642133 57642133 single base substitution G T exon_variant PACA-AU 12 57642133 57642133 single base substitution G T intron_variant PACA-AU 12 57642520 57642520 single base substitution T C downstream_gene_variant PACA-AU 12 57642520 57642520 single base substitution T C intron_variant PACA-AU 12 57642520 57642520 single base substitution T C missense_variant Y134C 401A>G PACA-AU 12 57642520 57642520 single base substitution T C missense_variant Y95C 284A>G PACA-AU 12 57642520 57642520 single base substitution T C upstream_gene_variant PACA-AU 12 57642610 57642614 deletion of <=200bp AGATA - downstream_gene_variant PACA-AU 12 57642610 57642614 deletion of <=200bp AGATA - intron_variant PACA-AU 12 57642610 57642614 deletion of <=200bp AGATA - upstream_gene_variant PACA-AU 12 57644258 57644258 single base substitution C A intron_variant PACA-AU 12 57644258 57644258 single base substitution C A upstream_gene_variant PACA-AU 12 57645379 57645379 single base substitution C T upstream_gene_variant PACA-AU 12 57649041 57649041 single base substitution C A upstream_gene_variant PACA-CA 12 57634354 57634354 single base substitution A T downstream_gene_variant PACA-CA 12 57635259 57635259 single base substitution C T downstream_gene_variant PACA-CA 12 57638893 57638893 single base substitution T C downstream_gene_variant PACA-CA 12 57638893 57638893 single base substitution T C intron_variant PACA-CA 12 57641090 57641092 deletion of <=200bp TTC - downstream_gene_variant PACA-CA 12 57641090 57641092 deletion of <=200bp TTC - intron_variant PACA-CA 12 57645766 57645766 single base substitution T G upstream_gene_variant PACA-CA 12 57646782 57646782 single base substitution G C upstream_gene_variant PBCA-DE 12 57636425 57636425 single base substitution C A downstream_gene_variant PBCA-DE 12 57638286 57638286 single base substitution C T downstream_gene_variant PBCA-DE 12 57638286 57638286 single base substitution C T intron_variant PBCA-DE 12 57644087 57644087 single base substitution C T intron_variant PBCA-DE 12 57644087 57644087 single base substitution C T upstream_gene_variant PRAD-CA 12 57635937 57635937 single base substitution G C downstream_gene_variant PRAD-UK 12 57646379 57646379 single base substitution C T upstream_gene_variant PRAD-US 12 57640646 57640646 single base substitution G A 5_prime_UTR_variant PRAD-US 12 57640646 57640646 single base substitution G A downstream_gene_variant PRAD-US 12 57640646 57640646 single base substitution G A exon_variant PRAD-US 12 57640646 57640646 single base substitution G A missense_variant R143C 427C>T PRAD-US 12 57640646 57640646 single base substitution G A missense_variant R182C 544C>T READ-US 12 57640594 57640594 single base substitution T G downstream_gene_variant READ-US 12 57640594 57640594 single base substitution T G exon_variant READ-US 12 57640594 57640594 single base substitution T G missense_variant K13T 38A>C READ-US 12 57640594 57640594 single base substitution T G missense_variant K160T 479A>C READ-US 12 57640594 57640594 single base substitution T G missense_variant K199T 596A>C RECA-EU 12 57640310 57640310 single base substitution C T downstream_gene_variant RECA-EU 12 57640310 57640310 single base substitution C T intron_variant RECA-EU 12 57648915 57648915 single base substitution G A upstream_gene_variant SKCA-BR 12 57638550 57638550 single base substitution G A downstream_gene_variant SKCA-BR 12 57638550 57638550 single base substitution G A exon_variant SKCA-BR 12 57638550 57638550 single base substitution G A intron_variant SKCA-BR 12 57639119 57639119 single base substitution G T downstream_gene_variant SKCA-BR 12 57639119 57639119 single base substitution G T intron_variant SKCA-BR 12 57641186 57641198 deletion of <=200bp AATTATTATTATT - downstream_gene_variant SKCA-BR 12 57641186 57641198 deletion of <=200bp AATTATTATTATT - intron_variant SKCA-BR 12 57641201 57641211 deletion of <=200bp TATTATTATTA - downstream_gene_variant SKCA-BR 12 57641201 57641211 deletion of <=200bp TATTATTATTA - intron_variant SKCA-BR 12 57641202 57641213 deletion of <=200bp ATTATTATTATT - downstream_gene_variant SKCA-BR 12 57641202 57641213 deletion of <=200bp ATTATTATTATT - intron_variant SKCA-BR 12 57644604 57644604 single base substitution A C intron_variant SKCA-BR 12 57644604 57644604 single base substitution A C upstream_gene_variant SKCA-BR 12 57644610 57644610 single base substitution A C intron_variant SKCA-BR 12 57644610 57644610 single base substitution A C upstream_gene_variant SKCA-BR 12 57644662 57644662 single base substitution T C intron_variant SKCA-BR 12 57644662 57644662 single base substitution T C upstream_gene_variant SKCA-BR 12 57644767 57644767 single base substitution G T intron_variant SKCA-BR 12 57644767 57644767 single base substitution G T upstream_gene_variant SKCA-BR 12 57645780 57645780 single base substitution G A upstream_gene_variant SKCA-BR 12 57648757 57648757 single base substitution A C upstream_gene_variant SKCM-US 12 57638321 57638321 single base substitution G T downstream_gene_variant SKCM-US 12 57638321 57638321 single base substitution G T missense_variant P230T 688C>A SKCM-US 12 57638321 57638321 single base substitution G T missense_variant P269T 805C>A SKCM-US 12 57638321 57638321 single base substitution G T missense_variant P83T 247C>A SKCM-US 12 57638321 57638321 single base substitution G T splice_region_variant SKCM-US 12 57640632 57640632 single base substitution G A 5_prime_UTR_variant SKCM-US 12 57640632 57640632 single base substitution G A downstream_gene_variant SKCM-US 12 57640632 57640632 single base substitution G A exon_variant SKCM-US 12 57640632 57640632 single base substitution G A synonymous_variant I147I 441C>T SKCM-US 12 57640632 57640632 single base substitution G A synonymous_variant I186I 558C>T SKCM-US 12 57642489 57642489 single base substitution G A downstream_gene_variant SKCM-US 12 57642489 57642489 single base substitution G A intron_variant SKCM-US 12 57642489 57642489 single base substitution G A splice_region_variant SKCM-US 12 57642489 57642489 single base substitution G A upstream_gene_variant SKCM-US 12 57642935 57642935 single base substitution C T exon_variant SKCM-US 12 57642935 57642935 single base substitution C T intron_variant SKCM-US 12 57642935 57642935 single base substitution C T missense_variant E36K 106G>A SKCM-US 12 57642935 57642935 single base substitution C T missense_variant E75K 223G>A SKCM-US 12 57642935 57642935 single base substitution C T upstream_gene_variant SKCM-US 12 57643365 57643365 single base substitution G A exon_variant SKCM-US 12 57643365 57643365 single base substitution G A intron_variant SKCM-US 12 57643365 57643365 single base substitution G A missense_variant R19W 55C>T SKCM-US 12 57643365 57643365 single base substitution G A upstream_gene_variant SKCM-US 12 57643378 57643378 single base substitution G A exon_variant SKCM-US 12 57643378 57643378 single base substitution G A intron_variant SKCM-US 12 57643378 57643378 single base substitution G A synonymous_variant F14F 42C>T SKCM-US 12 57643378 57643378 single base substitution G A upstream_gene_variant SKCM-US 12 57648631 57648631 single base substitution G A upstream_gene_variant SKCM-US 12 57648645 57648645 single base substitution G A upstream_gene_variant SKCM-US 12 57648709 57648709 single base substitution G A upstream_gene_variant SKCM-US 12 57648850 57648850 single base substitution G A upstream_gene_variant STAD-US 12 57637988 57637988 single base substitution G A downstream_gene_variant STAD-US 12 57637988 57637988 single base substitution G A exon_variant STAD-US 12 57637988 57637988 single base substitution G A synonymous_variant V107V 321C>T STAD-US 12 57637988 57637988 single base substitution G A synonymous_variant V254V 762C>T STAD-US 12 57637988 57637988 single base substitution G A synonymous_variant V293V 879C>T STAD-US 12 57638384 57638384 single base substitution G A downstream_gene_variant STAD-US 12 57638384 57638384 single base substitution G A exon_variant STAD-US 12 57638384 57638384 single base substitution G A stop_gained Q209* 625C>T STAD-US 12 57638384 57638384 single base substitution G A stop_gained Q248* 742C>T STAD-US 12 57638384 57638384 single base substitution G A stop_gained Q62* 184C>T STAD-US 12 57638744 57638744 single base substitution G A downstream_gene_variant STAD-US 12 57638744 57638744 single base substitution G A exon_variant STAD-US 12 57638744 57638744 single base substitution G A synonymous_variant N186N 558C>T STAD-US 12 57638744 57638744 single base substitution G A synonymous_variant N225N 675C>T STAD-US 12 57638744 57638744 single base substitution G A synonymous_variant N39N 117C>T STAD-US 12 57638988 57638988 single base substitution C A downstream_gene_variant STAD-US 12 57638988 57638988 single base substitution C A exon_variant STAD-US 12 57638988 57638988 single base substitution C A intron_variant STAD-US 12 57638988 57638988 single base substitution C A missense_variant A165S 493G>T STAD-US 12 57638988 57638988 single base substitution C A missense_variant A18S 52G>T STAD-US 12 57638988 57638988 single base substitution C A missense_variant A204S 610G>T STAD-US 12 57640669 57640669 single base substitution T C 5_prime_UTR_variant STAD-US 12 57640669 57640669 single base substitution T C downstream_gene_variant STAD-US 12 57640669 57640669 single base substitution T C exon_variant STAD-US 12 57640669 57640669 single base substitution T C missense_variant N135S 404A>G STAD-US 12 57640669 57640669 single base substitution T C missense_variant N174S 521A>G STAD-US 12 57648686 57648686 single base substitution G A upstream_gene_variant STAD-US 12 57648750 57648750 deletion of <=200bp C - upstream_gene_variant THCA-US 12 57640655 57640655 single base substitution C T 5_prime_UTR_variant THCA-US 12 57640655 57640655 single base substitution C T downstream_gene_variant THCA-US 12 57640655 57640655 single base substitution C T exon_variant THCA-US 12 57640655 57640655 single base substitution C T missense_variant E140K 418G>A THCA-US 12 57640655 57640655 single base substitution C T missense_variant E179K 535G>A UCEC-US 12 57637901 57637901 single base substitution C T 3_prime_UTR_variant UCEC-US 12 57637901 57637901 single base substitution C T downstream_gene_variant UCEC-US 12 57637901 57637901 single base substitution C T synonymous_variant E136E 408G>A UCEC-US 12 57637901 57637901 single base substitution C T synonymous_variant E283E 849G>A UCEC-US 12 57637901 57637901 single base substitution C T synonymous_variant E322E 966G>A UCEC-US 12 57638000 57638000 single base substitution G A downstream_gene_variant UCEC-US 12 57638000 57638000 single base substitution G A exon_variant UCEC-US 12 57638000 57638000 single base substitution G A synonymous_variant I103I 309C>T UCEC-US 12 57638000 57638000 single base substitution G A synonymous_variant I250I 750C>T UCEC-US 12 57638000 57638000 single base substitution G A synonymous_variant I289I 867C>T UCEC-US 12 57642489 57642489 single base substitution G A downstream_gene_variant UCEC-US 12 57642489 57642489 single base substitution G A intron_variant UCEC-US 12 57642489 57642489 single base substitution G A splice_region_variant UCEC-US 12 57642489 57642489 single base substitution G A upstream_gene_variant UCEC-US 12 57642566 57642566 single base substitution G A downstream_gene_variant UCEC-US 12 57642566 57642566 single base substitution G A intron_variant UCEC-US 12 57642566 57642566 single base substitution G A missense_variant R119C 355C>T UCEC-US 12 57642566 57642566 single base substitution G A missense_variant R80C 238C>T UCEC-US 12 57642566 57642566 single base substitution G A upstream_gene_variant UCEC-US 12 57642824 57642824 single base substitution G A exon_variant UCEC-US 12 57642824 57642824 single base substitution G A intron_variant UCEC-US 12 57642824 57642824 single base substitution G A missense_variant L112F 334C>T UCEC-US 12 57642824 57642824 single base substitution G A missense_variant L73F 217C>T UCEC-US 12 57642824 57642824 single base substitution G A upstream_gene_variant UCEC-US 12 57642900 57642900 single base substitution G A exon_variant UCEC-US 12 57642900 57642900 single base substitution G A intron_variant UCEC-US 12 57642900 57642900 single base substitution G A synonymous_variant N47N 141C>T UCEC-US 12 57642900 57642900 single base substitution G A synonymous_variant N86N 258C>T UCEC-US 12 57642900 57642900 single base substitution G A upstream_gene_variant UCEC-US 12 57642907 57642907 single base substitution A G exon_variant UCEC-US 12 57642907 57642907 single base substitution A G intron_variant UCEC-US 12 57642907 57642907 single base substitution A G missense_variant L45P 134T>C UCEC-US 12 57642907 57642907 single base substitution A G missense_variant L84P 251T>C UCEC-US 12 57642907 57642907 single base substitution A G upstream_gene_variant UCEC-US 12 57648612 57648612 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand C058 COSM5525638 c.29C>T p.P10L Substitution - Missense 12:57249608-57249608 - 2293782 COSM4608462 c.844G>T p.E282* Substitution - Nonsense 12:57244329-57244329 - COLO678 COSM1988763 c.628G>A p.E210K Substitution - Missense 12:57245187-57245187 - CSCC-11-T COSM3463735 c.558C>T p.I186I Substitution - coding silent 12:57246849-57246849 - PD4123a COSM164628 c.121G>T p.E41* Substitution - Nonsense 12:57249254-57249254 - TCGA-DA-A1HW-06 COSM3463735 c.558C>T p.I186I Substitution - coding silent 12:57246849-57246849 - TCGA-FS-A1ZA-06 COSM942005 c.432C>T p.I144I Substitution - coding silent 12:57248706-57248706 - TCGA-CM-4746-01 COSM78588 c.114G>T p.K38N Substitution - Missense 12:57249261-57249261 - TCGA-AA-A01D-01 COSM299790 c.780C>A p.A260A Substitution - coding silent 12:57244563-57244563 - MDS-11 COSM211515 c.702delG p.K235fs*79 Deletion - Frameshift 12:57244934-57244934 - TCGA-BS-A0UV-01 COSM942006 c.355C>T p.R119C Substitution - Missense 12:57248783-57248783 - TCGA-BR-6452-01 COSM4043828 c.742C>T p.Q248* Substitution - Nonsense 12:57244601-57244601 - TCGA-EE-A2GH-06 COSM3463736 c.42C>T p.F14F Substitution - coding silent 12:57249595-57249595 - TCGA-DK-A1AA-01 COSM1299710 c.973C>T p.Q325* Substitution - Nonsense 12:57244111-57244111 - 117T COSM1725505 c.134A>T p.E45V Substitution - Missense 12:57249241-57249241 - TCGA-D5-6529-01 COSM5161624 c.506-6G>A p.? Unknown 12:57246907-57246907 - SW48 COSM1988755 c.1030T>C p.Y344H Substitution - Missense 12:57243877-57243877 - TCGA-HU-A4G8-01 COSM4043831 c.521A>G p.N174S Substitution - Missense 12:57246886-57246886 - TCGA-18-3409-01 COSM694374 c.839C>T p.S280F Substitution - Missense 12:57244334-57244334 - TCGA-CM-5861-01 COSM1363279 c.559A>G p.M187V Substitution - Missense 12:57246848-57246848 - TCGA-HC-8259-01 COSM1988767 c.544C>T p.R182C Substitution - Missense 12:57246863-57246863 - Pat_32_A COSM5841596 c.793G>A p.D265N Substitution - Missense 12:57244550-57244550 - RK027_C01 COSM1628741 c.806+1G>C p.? Unknown 12:57244536-57244536 - TCGA-F5-6814-01 COSM3417023 c.596A>C p.K199T Substitution - Missense 12:57246811-57246811 - TCGA-G2-A3IE-01 COSM1299709 c.1018G>T p.E340* Substitution - Nonsense 12:57243889-57243889 - ESCC-060T COSM3936071 c.394C>A p.Q132K Substitution - Missense 12:57248744-57248744 - TCGA-D1-A17Q-01 COSM942007 c.334C>T p.L112F Substitution - Missense 12:57249041-57249041 - CSCC-44-T COSM4528073 c.150G>A p.G50G Substitution - coding silent 12:57249225-57249225 - PD4123a COSM164627 c.122A>T p.E41V Substitution - Missense 12:57249253-57249253 - 49M COSM107687 c.888C>T p.F296F Substitution - coding silent 12:57244196-57244196 - TCGA-FW-A3R5-06 COSM3872149 c.223G>A p.E75K Substitution - Missense 12:57249152-57249152 - BCM703T COSM4802945 c.168G>C p.G56G Substitution - coding silent 12:57249207-57249207 - TCGA-D5-6930-01 COSM1363277 c.1022C>T p.A341V Substitution - Missense 12:57243885-57243885 - TCGA-B5-A0JY-01 COSM942005 c.432C>T p.I144I Substitution - coding silent 12:57248706-57248706 - BD124T COSM5492983 c.716A>G p.D239G Substitution - Missense 12:57244920-57244920 - TCGA-FD-A3SN-01 COSM3792857 c.1018G>A p.E340K Substitution - Missense 12:57243889-57243889 - TCGA-BR-6452-01 COSM4043829 c.675C>T p.N225N Substitution - coding silent 12:57244961-57244961 - PTC-28C COSM4147325 c.853T>G p.W285G Substitution - Missense 12:57244320-57244320 - CSCC-31-T COSM4548577 c.450G>A p.R150R Substitution - coding silent 12:57248181-57248181 - 1N05-VS-1T05 COSM4972810 c.249G>C p.K83N Substitution - Missense 12:57249126-57249126 - 9227_T COSM5042160 c.592G>A p.D198N Substitution - Missense 12:57246815-57246815 - TCGA-FI-A2F8-01 COSM942009 c.251T>C p.L84P Substitution - Missense 12:57249124-57249124 - SC_9096 COSM5565250 c.73C>T p.R25W Substitution - Missense 12:57249302-57249302 - TCGA-FD-A3B3-01 COSM1299711 c.857G>A p.R286Q Substitution - Missense 12:57244316-57244316 - TCGA-E2-A1IN-01 COSM1476778 c.1087G>C p.E363Q Substitution - Missense 12:57243820-57243820 - TCGA-EE-A2MR-06 COSM3463734 c.805C>A p.P269T Substitution - Missense 12:57244538-57244538 - Pat_63_B COSM5841597 c.406G>A p.E136K Substitution - Missense 12:57248732-57248732 - 8030245 COSM1159344 c.674A>C p.N225T Substitution - Missense 12:57244962-57244962 - TCGA-D5-6928-01 COSM1363278 c.948C>A p.S316S Substitution - coding silent 12:57244136-57244136 - TCGA-FD-A3B3-01 COSM1299712 c.649G>C p.E217Q Substitution - Missense 12:57245166-57245166 - HCC044T COSM5816075 c.496A>G p.K166E Substitution - Missense 12:57248135-57248135 - BCM703T COSM4802962 c.170G>T p.G57V Substitution - Missense 12:57249205-57249205 - TCGA-DM-A282-01 COSM5169913 c.1074C>A p.T358T Substitution - coding silent 12:57243833-57243833 - TCGA-G4-6320-01 COSM3688363 c.769C>T p.R257W Substitution - Missense 12:57244574-57244574 - ICGC_0056 COSM1159344 c.674A>C p.N225T Substitution - Missense 12:57244962-57244962 - TCGA-F4-6856-01 COSM1363280 c.216G>A p.E72E Substitution - coding silent 12:57249159-57249159 - TCGA-BR-6452-01 COSM4043830 c.610G>T p.A204S Substitution - Missense 12:57245205-57245205 - TCGA-A2-A0YD-01 COSM431571 c.867C>T p.I289I Substitution - coding silent 12:57244217-57244217 - TCGA-A6-3810-01 COSM942008 c.258C>T p.N86N Substitution - coding silent 12:57249117-57249117 - TCGA-F1-6177-01 COSM4043827 c.879C>T p.V293V Substitution - coding silent 12:57244205-57244205 - LS411 COSM1988765 c.574C>T p.R192W Substitution - Missense 12:57246833-57246833 - TCGA-D1-A17Q-01 COSM431571 c.867C>T p.I289I Substitution - coding silent 12:57244217-57244217 - TCGA-AP-A0LM-01 COSM942004 c.966G>A p.E322E Substitution - coding silent 12:57244118-57244118 - TCGA-AP-A051-01 COSM942008 c.258C>T p.N86N Substitution - coding silent 12:57249117-57249117 - CSCC-15-T COSM4535630 c.220G>A p.E74K Substitution - Missense 12:57249155-57249155 - T2940 COSM4730355 c.236delC p.P79fs*31 Deletion - Frameshift 12:57249139-57249139 - 8016470 COSM3384529 c.401A>G p.Y134C Substitution - Missense 12:57248737-57248737 - CSCC-37-T COSM4487694 c.321C>T p.A107A Substitution - coding silent 12:57249054-57249054 - T3658 COSM4730354 c.962G>A p.R321H Substitution - Missense 12:57244122-57244122 - TCGA-FW-A3R5-06 COSM3872150 c.55C>T p.R19W Substitution - Missense 12:57249582-57249582 - BCM703T COSM4802962 c.170G>T p.G57V Substitution - Missense 12:57249205-57249205 - TCGA-EL-A3MX-01 COSM3983832 c.535G>A p.E179K Substitution - Missense 12:57246872-57246872 - LP6007409-DNA_A01 COSM5953394 c.646C>G p.P216A Substitution - Missense 12:57245169-57245169 - 2521244 COSM5887410 c.664C>T p.Q222* Substitution - Nonsense 12:57245151-57245151 - BCM703T COSM4802945 c.168G>C p.G56G Substitution - coding silent 12:57249207-57249207 - TCGA-A6-2679-01 COSM1988765 c.574C>T p.R192W Substitution - Missense 12:57246833-57246833 - TCGA-BT-A3PJ-01 COSM3792858 c.810A>T p.P270P Substitution - coding silent 12:57244363-57244363 - TCGA-10-0938-01 COSM78587 c.913C>T p.R305W Substitution - Missense 12:57244171-57244171 - 22T COSM107687 c.888C>T p.F296F Substitution - coding silent 12:57244196-57244196 - TCGA-36-1571-01 COSM78588 c.114G>T p.K38N Substitution - Missense 12:57249261-57249261 - PT49 COSM5935970 c.38C>T p.S13F Substitution - Missense 12:57249599-57249599 - TCGA-27-1833-01 COSM942008 c.258C>T p.N86N Substitution - coding silent 12:57249117-57249117 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.417595 12q13.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AC - Frameshift p.F178*fs*1 c.531_532delGT 12 57640658 HNSC A G Missense p.L84P c.251T>C 12 57642907 UCEC C A Missense p.G117W c.349G>T 12 57642572 LUAD C A Missense p.G147V c.440G>T 12 57641974 LUAD C A Missense p.K38N c.114G>T 12 57643044 OV C A Nonsense p.E340* c.1018G>T 12 57637672 BLCA C A Nonsense p.E41* c.121G>T 12 57643037 BRCA C G Missense p.E217Q c.649G>C 12 57638949 BLCA C G Missense p.E363Q c.1087G>C 12 57637603 BRCA C G Missense p.E73Q c.217G>C 12 57642941 HNSC C G Missense p.K199N c.597G>C 12 57640593 HNSC C T Missense p.E179K c.535G>A 12 57640655 THCA C T Missense p.R286Q c.857G>A 12 57638099 BLCA G A Missense p.R305W c.913C>T 12 57637954 OV G A Nonsense p.Q325* c.973C>T 12 57637894 BLCA G A Synonymous p.F14F c.42C>T 12 57643378 CM G A Synonymous p.I144I c.432C>T 12 57642489 CM G A Synonymous p.I186I c.558C>T 12 57640632 CM G A Synonymous p.I289I c.867C>T 12 57638000 BRCA G A Synonymous p.I301I c.903C>T 12 57637964 CM G A Synonymous p.N86N c.258C>T 12 57642900 GBM G A Synonymous p.V293V c.879C>T 12 57637988 STAD G T Synonymous p.A260A c.780C>A 12 57638346 COREAD T A Missense p.E41V c.122A>T 12 57643036 BRCA T A Synonymous p.P270P c.810A>T 12 57638146 BLCA T G Missense p.N225T c.674A>C 12 57638745 PAAD - T IntronicInsertion . c.433-180dupA 12 57642161 CM