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 ACC 12 48543591 48543603 + Frame_Shift_Del DEL GCCCCGCTCTCTA GCCCCGCTCTCTA - TCGA-PK-A5H8-01A-11D-A29I-10 TCGA-PK-A5H8-10A-01D-A29L-10 g.chr12:48543591_48543603delGCCCCGCTCTCTA c.413_425delTAGAGAGCGGGGC c.(412-426)ctagagagcggggccfs p.LESGA138fs BLCA 12 48543217 48543217 + Missense_Mutation SNP G G A TCGA-UY-A9PF-01A-11D-A38G-08 TCGA-UY-A9PF-10A-01D-A38J-08 g.chr12:48543217G>A c.799C>T c.(799-801)Ctc>Ttc p.L267F BLCA 12 48543418 48543418 + Missense_Mutation SNP C C T TCGA-BT-A42E-01A-11D-A23U-08 TCGA-BT-A42E-10A-01D-A23U-08 g.chr12:48543418C>T c.598G>A c.(598-600)Gga>Aga p.G200R BLCA 12 48543479 48543479 + Silent SNP G G A TCGA-KQ-A41P-01A-12D-A339-08 TCGA-KQ-A41P-10F-01D-A339-08 g.chr12:48543479G>A c.537C>T c.(535-537)gtC>gtT p.V179V BLCA 12 48547243 48547243 + Nonsense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 g.chr12:48547243G>A c.37C>T c.(37-39)Cag>Tag p.Q13* BRCA 12 48543359 48543359 + Missense_Mutation SNP T T G TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 g.chr12:48543359T>G c.657A>C c.(655-657)gaA>gaC p.E219D COAD 12 48545029 48545029 + Silent SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr12:48545029C>T c.189G>A c.(187-189)gtG>gtA p.V63V COAD 12 48545030 48545030 + Missense_Mutation SNP A A G TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr12:48545030A>G c.188T>C c.(187-189)gTg>gCg p.V63A COAD 12 48547200 48547200 + Missense_Mutation SNP G G A TCGA-AA-3875-01A-01W-0900-09 TCGA-AA-3875-10A-01W-0902-09 g.chr12:48547200G>A c.80C>T c.(79-81)gCt>gTt p.A27V COAD 12 48547209 48547209 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr12:48547209C>T c.71G>A c.(70-72)cGa>cAa p.R24Q COAD 12 48547209 48547209 + Missense_Mutation SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr12:48547209C>T c.71G>A c.(70-72)cGa>cAa p.R24Q COADREAD 12 48543494 48543494 + Silent SNP G G A TCGA-AF-2691-01A-01W-0831-10 TCGA-AF-2691-10A-01W-0831-10 g.chr12:48543494G>A c.522C>T c.(520-522)ggC>ggT p.G174G COADREAD 12 48545029 48545029 + Silent SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr12:48545029C>T c.189G>A c.(187-189)gtG>gtA p.V63V COADREAD 12 48545030 48545030 + Missense_Mutation SNP A A G TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr12:48545030A>G c.188T>C c.(187-189)gTg>gCg p.V63A COADREAD 12 48547200 48547200 + Missense_Mutation SNP G G A TCGA-AA-3875-01A-01W-0900-09 TCGA-AA-3875-10A-01W-0902-09 g.chr12:48547200G>A c.80C>T c.(79-81)gCt>gTt p.A27V COADREAD 12 48547209 48547209 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr12:48547209C>T c.71G>A c.(70-72)cGa>cAa p.R24Q COADREAD 12 48547209 48547209 + Missense_Mutation SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr12:48547209C>T c.71G>A c.(70-72)cGa>cAa p.R24Q ESCA 12 48543170 48543173 + Frame_Shift_Del DEL TTCC TTCC - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 g.chr12:48543170_48543173delTTCC c.843_846delGGAA c.(841-846)aaggaafs p.KE281fs ESCA 12 48543223 48543223 + Missense_Mutation SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 g.chr12:48543223G>T c.793C>A c.(793-795)Cag>Aag p.Q265K ESCA 12 48543324 48543324 + Missense_Mutation SNP G G T TCGA-R6-A8W5-01B-11D-A37C-09 TCGA-R6-A8W5-10A-01D-A37F-09 g.chr12:48543324G>T c.692C>A c.(691-693)gCc>gAc p.A231D GBM 12 48543629 48543629 + Missense_Mutation SNP G G T TCGA-06-0192-01B-01W-0348-08 TCGA-06-0192-10A-01W-0348-08 g.chr12:48543629G>T c.387C>A c.(385-387)aaC>aaA p.N129K GBMLGG 12 48543629 48543629 + Missense_Mutation SNP G G T TCGA-06-0192-01B-01W-0348-08 TCGA-06-0192-10A-01W-0348-08 g.chr12:48543629G>T c.387C>A c.(385-387)aaC>aaA p.N129K HNSC 12 48543152 48543152 + Silent SNP T T C TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 g.chr12:48543152T>C c.864A>G c.(862-864)gaA>gaG p.E288E HNSC 12 48543326 48543326 + Silent SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 g.chr12:48543326C>T c.690G>A c.(688-690)gtG>gtA p.V230V HNSC 12 48543375 48543375 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr12:48543375G>T c.641C>A c.(640-642)gCt>gAt p.A214D HNSC 12 48543601 48543601 + Missense_Mutation SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr12:48543601C>T c.415G>A c.(415-417)Gag>Aag p.E139K HNSC 12 48543613 48543613 + Missense_Mutation SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 g.chr12:48543613G>A c.403C>T c.(403-405)Cgg>Tgg p.R135W HNSC 12 48543741 48543741 + Missense_Mutation SNP T T C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 g.chr12:48543741T>C c.275A>G c.(274-276)tAt>tGt p.Y92C HNSC 12 48545077 48545077 + Silent SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 g.chr12:48545077C>G c.141G>C c.(139-141)gtG>gtC p.V47V KIPAN 12 48543458 48543458 + Silent SNP T T C TCGA-B8-4146-01B-11D-1669-08 TCGA-B8-4146-10A-01D-1669-08 g.chr12:48543458T>C c.558A>G c.(556-558)acA>acG p.T186T KIPAN 12 48543736 48543736 + Missense_Mutation SNP C C T TCGA-B1-A655-01A-11D-A31Z-10 TCGA-B1-A655-10A-01D-A31X-10 g.chr12:48543736C>T c.280G>A c.(280-282)Gca>Aca p.A94T KIPAN 12 48547183 48547183 + Missense_Mutation SNP G G A TCGA-B4-5832-01A-11D-1669-08 TCGA-B4-5832-10A-01D-1669-08 g.chr12:48547183G>A c.97C>T c.(97-99)Cca>Tca p.P33S KIPAN 12 48547222 48547222 + Missense_Mutation SNP C C T TCGA-BP-4756-01A-01D-1366-10 TCGA-BP-4756-11A-01D-1366-10 g.chr12:48547222C>T c.58G>A c.(58-60)Gag>Aag p.E20K KIRC 12 48543458 48543458 + Silent SNP T T C TCGA-B8-4146-01B-11D-1669-08 TCGA-B8-4146-10A-01D-1669-08 g.chr12:48543458T>C c.558A>G c.(556-558)acA>acG p.T186T KIRC 12 48547183 48547183 + Missense_Mutation SNP G G A TCGA-B4-5832-01A-11D-1669-08 TCGA-B4-5832-10A-01D-1669-08 g.chr12:48547183G>A c.97C>T c.(97-99)Cca>Tca p.P33S KIRC 12 48547222 48547222 + Missense_Mutation SNP C C T TCGA-BP-4756-01A-01D-1366-10 TCGA-BP-4756-11A-01D-1366-10 g.chr12:48547222C>T c.58G>A c.(58-60)Gag>Aag p.E20K KIRP 12 48543736 48543736 + Missense_Mutation SNP C C T TCGA-B1-A655-01A-11D-A31Z-10 TCGA-B1-A655-10A-01D-A31X-10 g.chr12:48543736C>T c.280G>A c.(280-282)Gca>Aca p.A94T LUAD 12 48543473 48543473 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr12:48543473G>T c.543C>A c.(541-543)aaC>aaA p.N181K LUAD 12 48543756 48543756 + Missense_Mutation SNP C C T TCGA-55-7724-01A-11D-2167-08 TCGA-55-7724-10A-01D-2167-08 g.chr12:48543756C>T c.260G>A c.(259-261)cGa>cAa p.R87Q PAAD 12 48543613 48543613 + Missense_Mutation SNP G G A TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 g.chr12:48543613G>A c.403C>T c.(403-405)Cgg>Tgg p.R135W PRAD 12 48543215 48543215 + Silent SNP G G A TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 g.chr12:48543215G>A c.801C>T c.(799-801)ctC>ctT p.L267L PRAD 12 48543494 48543494 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr12:48543494G>A c.522C>T c.(520-522)ggC>ggT p.G174G READ 12 48543494 48543494 + Silent SNP G G A TCGA-AF-2691-01A-01W-0831-10 TCGA-AF-2691-10A-01W-0831-10 g.chr12:48543494G>A c.522C>T c.(520-522)ggC>ggT p.G174G

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 12 48547243 48547243 single base substitution G A exon_variant BLCA-US 12 48547243 48547243 single base substitution G A intron_variant BLCA-US 12 48547243 48547243 single base substitution G A stop_gained Q13* 37C>T BLCA-US 12 48547243 48547243 single base substitution G A upstream_gene_variant BRCA-EU 12 48536893 48536893 single base substitution C T downstream_gene_variant BRCA-EU 12 48537658 48537658 single base substitution T C downstream_gene_variant BRCA-EU 12 48537740 48537740 single base substitution A T downstream_gene_variant BRCA-EU 12 48541594 48541594 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 12 48541594 48541594 deletion of <=200bp T - downstream_gene_variant BRCA-EU 12 48541755 48541755 single base substitution C G 3_prime_UTR_variant BRCA-EU 12 48541755 48541755 single base substitution C G downstream_gene_variant BRCA-EU 12 48543223 48543223 single base substitution G A downstream_gene_variant BRCA-EU 12 48543223 48543223 single base substitution G A exon_variant BRCA-EU 12 48543223 48543223 single base substitution G A stop_gained Q265* 793C>T BRCA-EU 12 48543821 48543821 single base substitution G T 3_prime_UTR_variant BRCA-EU 12 48543821 48543821 single base substitution G T downstream_gene_variant BRCA-EU 12 48543821 48543821 single base substitution G T intron_variant BRCA-EU 12 48544727 48544727 single base substitution G T 3_prime_UTR_variant BRCA-EU 12 48544727 48544727 single base substitution G T downstream_gene_variant BRCA-EU 12 48544727 48544727 single base substitution G T intron_variant BRCA-EU 12 48545235 48545237 deletion of <=200bp TAT - intron_variant BRCA-EU 12 48545235 48545237 deletion of <=200bp TAT - upstream_gene_variant BRCA-EU 12 48547539 48547539 single base substitution G T 5_prime_UTR_variant BRCA-EU 12 48547539 48547539 single base substitution G T intron_variant BRCA-EU 12 48547539 48547539 single base substitution G T upstream_gene_variant BRCA-EU 12 48548032 48548032 single base substitution G T intron_variant BRCA-EU 12 48548032 48548032 single base substitution G T upstream_gene_variant BRCA-EU 12 48548400 48548400 single base substitution C T intron_variant BRCA-EU 12 48548400 48548400 single base substitution C T upstream_gene_variant BRCA-EU 12 48551053 48551053 single base substitution C T intron_variant BRCA-EU 12 48551053 48551053 single base substitution C T upstream_gene_variant BRCA-EU 12 48551081 48551081 single base substitution C A intron_variant BRCA-EU 12 48551081 48551081 single base substitution C A upstream_gene_variant BRCA-EU 12 48551838 48551838 single base substitution C G intron_variant BRCA-EU 12 48551838 48551838 single base substitution C G upstream_gene_variant BRCA-EU 12 48552122 48552122 single base substitution G C intron_variant BRCA-EU 12 48552122 48552122 single base substitution G C upstream_gene_variant BRCA-EU 12 48552287 48552287 single base substitution T A intron_variant BRCA-EU 12 48552287 48552287 single base substitution T A upstream_gene_variant BRCA-EU 12 48552397 48552397 single base substitution T C intron_variant BRCA-EU 12 48552397 48552397 single base substitution T C upstream_gene_variant BRCA-EU 12 48552932 48552932 single base substitution A T intron_variant BRCA-EU 12 48552932 48552932 single base substitution A T upstream_gene_variant BRCA-EU 12 48553106 48553106 single base substitution C G intron_variant BRCA-EU 12 48553106 48553106 single base substitution C G upstream_gene_variant BRCA-EU 12 48555037 48555040 deletion of <=200bp AGAC - intron_variant BRCA-EU 12 48555037 48555040 deletion of <=200bp AGAC - upstream_gene_variant BRCA-EU 12 48556012 48556012 single base substitution G T intron_variant BRCA-EU 12 48556012 48556012 single base substitution G T upstream_gene_variant BRCA-EU 12 48556352 48556354 deletion of <=200bp AGG - intron_variant BRCA-EU 12 48556352 48556354 deletion of <=200bp AGG - upstream_gene_variant BRCA-EU 12 48556837 48556837 single base substitution C G intron_variant BRCA-EU 12 48557548 48557548 single base substitution C G intron_variant BRCA-EU 12 48557579 48557579 single base substitution T C intron_variant BRCA-EU 12 48558221 48558221 single base substitution C T intron_variant BRCA-EU 12 48560258 48560258 single base substitution G A intron_variant BRCA-EU 12 48560669 48560669 single base substitution T C intron_variant BRCA-EU 12 48561201 48561223 multiple base substitution (>=2bp and <=200bp) AAACTGTTTTGGGAAGGTAAAGA ACATACTT intron_variant BRCA-EU 12 48562194 48562194 single base substitution G A intron_variant BRCA-EU 12 48563553 48563553 single base substitution T C intron_variant BRCA-EU 12 48566228 48566228 single base substitution T C intron_variant BRCA-EU 12 48566378 48566378 single base substitution C G intron_variant BRCA-EU 12 48566667 48566667 insertion of <=200bp - T intron_variant BRCA-EU 12 48566894 48566894 deletion of <=200bp A - intron_variant BRCA-EU 12 48567539 48567539 single base substitution C T intron_variant BRCA-EU 12 48568009 48568009 single base substitution G A intron_variant BRCA-EU 12 48569022 48569022 single base substitution A G intron_variant BRCA-EU 12 48572073 48572073 single base substitution C T intron_variant BRCA-EU 12 48575373 48575373 single base substitution C T upstream_gene_variant BRCA-EU 12 48576519 48576519 single base substitution C A upstream_gene_variant BRCA-EU 12 48576602 48576602 single base substitution G C upstream_gene_variant BRCA-EU 12 48576917 48576917 single base substitution G C upstream_gene_variant BRCA-EU 12 48577490 48577490 single base substitution C G upstream_gene_variant BRCA-EU 12 48577846 48577846 single base substitution C G upstream_gene_variant BRCA-EU 12 48578394 48578394 single base substitution C T upstream_gene_variant BRCA-EU 12 48579204 48579204 single base substitution G C upstream_gene_variant BRCA-EU 12 48579406 48579406 single base substitution G C upstream_gene_variant BRCA-EU 12 48579510 48579510 single base substitution C G upstream_gene_variant BRCA-FR 12 48536893 48536893 single base substitution C T downstream_gene_variant BRCA-FR 12 48541755 48541755 single base substitution C G 3_prime_UTR_variant BRCA-FR 12 48541755 48541755 single base substitution C G downstream_gene_variant BRCA-FR 12 48543821 48543821 single base substitution G T 3_prime_UTR_variant BRCA-FR 12 48543821 48543821 single base substitution G T downstream_gene_variant BRCA-FR 12 48543821 48543821 single base substitution G T intron_variant BRCA-FR 12 48544727 48544727 single base substitution G T 3_prime_UTR_variant BRCA-FR 12 48544727 48544727 single base substitution G T downstream_gene_variant BRCA-FR 12 48544727 48544727 single base substitution G T intron_variant BRCA-FR 12 48556969 48556969 single base substitution T C intron_variant BRCA-FR 12 48562402 48562402 single base substitution G A intron_variant BRCA-FR 12 48576602 48576602 single base substitution G C upstream_gene_variant BRCA-UK 12 48540177 48540177 single base substitution C G downstream_gene_variant BRCA-UK 12 48543319 48543319 single base substitution C T 3_prime_UTR_variant BRCA-UK 12 48543319 48543319 single base substitution C T downstream_gene_variant BRCA-UK 12 48543319 48543319 single base substitution C T exon_variant BRCA-UK 12 48543319 48543319 single base substitution C T missense_variant D233N 697G>A BRCA-UK 12 48548400 48548400 single base substitution C T intron_variant BRCA-UK 12 48548400 48548400 single base substitution C T upstream_gene_variant BRCA-US 12 48538878 48538878 single base substitution G A downstream_gene_variant BRCA-US 12 48539018 48539018 single base substitution T C downstream_gene_variant BRCA-US 12 48539433 48539433 single base substitution C A downstream_gene_variant BRCA-US 12 48539459 48539459 single base substitution A C downstream_gene_variant BRCA-US 12 48543359 48543359 single base substitution T G 3_prime_UTR_variant BRCA-US 12 48543359 48543359 single base substitution T G downstream_gene_variant BRCA-US 12 48543359 48543359 single base substitution T G exon_variant BRCA-US 12 48543359 48543359 single base substitution T G missense_variant E219D 657A>C BRCA-US 12 48578200 48578200 single base substitution C T upstream_gene_variant BRCA-US 12 48578409 48578409 insertion of <=200bp - G upstream_gene_variant BTCA-JP 12 48539184 48539184 deletion of <=200bp T - downstream_gene_variant BTCA-JP 12 48539184 48539185 deletion of <=200bp TT - downstream_gene_variant BTCA-JP 12 48543133 48543136 deletion of <=200bp CAAA - 3_prime_UTR_variant BTCA-JP 12 48543133 48543136 deletion of <=200bp CAAA - downstream_gene_variant BTCA-JP 12 48545409 48545409 insertion of <=200bp - A exon_variant BTCA-JP 12 48545409 48545409 insertion of <=200bp - A intron_variant BTCA-JP 12 48545409 48545409 insertion of <=200bp - A upstream_gene_variant CESC-US 12 48578079 48578079 single base substitution G C upstream_gene_variant CESC-US 12 48578442 48578442 single base substitution C T upstream_gene_variant CLLE-ES 12 48569112 48569112 single base substitution G T intron_variant COAD-US 12 48539482 48539482 single base substitution T G downstream_gene_variant COAD-US 12 48547209 48547209 single base substitution C T exon_variant COAD-US 12 48547209 48547209 single base substitution C T intron_variant COAD-US 12 48547209 48547209 single base substitution C T missense_variant R24Q 71G>A COAD-US 12 48547209 48547209 single base substitution C T upstream_gene_variant COAD-US 12 48578155 48578155 single base substitution C T upstream_gene_variant COAD-US 12 48578205 48578205 single base substitution C T upstream_gene_variant COAD-US 12 48578325 48578325 single base substitution A C upstream_gene_variant COCA-CN 12 48539127 48539127 single base substitution C A downstream_gene_variant COCA-CN 12 48543381 48543381 single base substitution T C 3_prime_UTR_variant COCA-CN 12 48543381 48543381 single base substitution T C downstream_gene_variant COCA-CN 12 48543381 48543381 single base substitution T C exon_variant COCA-CN 12 48543381 48543381 single base substitution T C missense_variant H212R 635A>G COCA-CN 12 48545293 48545293 single base substitution A G intron_variant COCA-CN 12 48545293 48545293 single base substitution A G upstream_gene_variant COCA-CN 12 48548212 48548212 single base substitution C T intron_variant COCA-CN 12 48548212 48548212 single base substitution C T upstream_gene_variant COCA-CN 12 48557100 48557100 single base substitution T A intron_variant COCA-CN 12 48563422 48563422 single base substitution C T intron_variant COCA-CN 12 48566475 48566475 single base substitution C T intron_variant COCA-CN 12 48566646 48566646 single base substitution G A intron_variant COCA-CN 12 48572714 48572714 single base substitution C T intron_variant COCA-CN 12 48578508 48578508 single base substitution C G upstream_gene_variant EOPC-DE 12 48574262 48574262 single base substitution C A intron_variant ESAD-UK 12 48538979 48538979 single base substitution A G downstream_gene_variant ESAD-UK 12 48540016 48540016 single base substitution C T downstream_gene_variant ESAD-UK 12 48541187 48541187 single base substitution G A downstream_gene_variant ESAD-UK 12 48541430 48541430 single base substitution T C downstream_gene_variant ESAD-UK 12 48543003 48543003 single base substitution A G 3_prime_UTR_variant ESAD-UK 12 48543003 48543003 single base substitution A G downstream_gene_variant ESAD-UK 12 48543315 48543315 single base substitution G A 3_prime_UTR_variant ESAD-UK 12 48543315 48543315 single base substitution G A downstream_gene_variant ESAD-UK 12 48543315 48543315 single base substitution G A exon_variant ESAD-UK 12 48543315 48543315 single base substitution G A missense_variant P234L 701C>T ESAD-UK 12 48543533 48543533 single base substitution C T 3_prime_UTR_variant ESAD-UK 12 48543533 48543533 single base substitution C T downstream_gene_variant ESAD-UK 12 48543533 48543533 single base substitution C T exon_variant ESAD-UK 12 48543533 48543533 single base substitution C T synonymous_variant K161K 483G>A ESAD-UK 12 48544388 48544388 single base substitution A C downstream_gene_variant ESAD-UK 12 48544388 48544388 single base substitution A C intron_variant ESAD-UK 12 48545476 48545476 single base substitution A C intron_variant ESAD-UK 12 48545476 48545476 single base substitution A C upstream_gene_variant ESAD-UK 12 48552287 48552287 single base substitution T A intron_variant ESAD-UK 12 48552287 48552287 single base substitution T A upstream_gene_variant ESAD-UK 12 48552366 48552366 single base substitution C T intron_variant ESAD-UK 12 48552366 48552366 single base substitution C T upstream_gene_variant ESAD-UK 12 48552987 48552987 deletion of <=200bp T - intron_variant ESAD-UK 12 48552987 48552987 deletion of <=200bp T - upstream_gene_variant ESAD-UK 12 48554479 48554479 single base substitution C A intron_variant ESAD-UK 12 48554479 48554479 single base substitution C A upstream_gene_variant ESAD-UK 12 48555337 48555337 single base substitution T C intron_variant ESAD-UK 12 48555337 48555337 single base substitution T C upstream_gene_variant ESAD-UK 12 48555358 48555358 single base substitution G A intron_variant ESAD-UK 12 48555358 48555358 single base substitution G A upstream_gene_variant ESAD-UK 12 48556947 48556947 insertion of <=200bp - T intron_variant ESAD-UK 12 48559212 48559212 single base substitution C A intron_variant ESAD-UK 12 48559423 48559423 single base substitution C T intron_variant ESAD-UK 12 48561854 48561854 deletion of <=200bp A - intron_variant ESAD-UK 12 48562195 48562195 insertion of <=200bp - A intron_variant ESAD-UK 12 48567421 48567421 single base substitution G A intron_variant ESAD-UK 12 48567531 48567531 single base substitution C T intron_variant ESAD-UK 12 48568269 48568269 single base substitution C T intron_variant ESAD-UK 12 48568894 48568894 single base substitution T G intron_variant ESAD-UK 12 48569148 48569148 single base substitution T G intron_variant ESAD-UK 12 48570980 48570980 single base substitution T G intron_variant ESAD-UK 12 48571015 48571015 single base substitution T A intron_variant ESAD-UK 12 48572957 48572957 single base substitution A T intron_variant ESAD-UK 12 48573750 48573750 single base substitution T C intron_variant ESAD-UK 12 48575451 48575451 single base substitution T C upstream_gene_variant ESAD-UK 12 48577359 48577359 single base substitution A C upstream_gene_variant ESAD-UK 12 48578731 48578731 single base substitution G T upstream_gene_variant ESAD-UK 12 48579505 48579505 single base substitution G A upstream_gene_variant GBM-US 12 48543629 48543629 single base substitution G T 3_prime_UTR_variant GBM-US 12 48543629 48543629 single base substitution G T downstream_gene_variant GBM-US 12 48543629 48543629 single base substitution G T exon_variant GBM-US 12 48543629 48543629 single base substitution G T missense_variant N129K 387C>A GBM-US 12 48578422 48578422 single base substitution C T upstream_gene_variant KIRC-US 12 48543458 48543458 single base substitution T C 3_prime_UTR_variant KIRC-US 12 48543458 48543458 single base substitution T C downstream_gene_variant KIRC-US 12 48543458 48543458 single base substitution T C exon_variant KIRC-US 12 48543458 48543458 single base substitution T C synonymous_variant T186T 558A>G KIRC-US 12 48547222 48547222 single base substitution C T exon_variant KIRC-US 12 48547222 48547222 single base substitution C T intron_variant KIRC-US 12 48547222 48547222 single base substitution C T missense_variant E20K 58G>A KIRC-US 12 48547222 48547222 single base substitution C T upstream_gene_variant KIRP-US 12 48538849 48538849 single base substitution C A downstream_gene_variant KIRP-US 12 48543736 48543736 single base substitution C T 3_prime_UTR_variant KIRP-US 12 48543736 48543736 single base substitution C T downstream_gene_variant KIRP-US 12 48543736 48543736 single base substitution C T exon_variant KIRP-US 12 48543736 48543736 single base substitution C T missense_variant A94T 280G>A LAML-KR 12 48539205 48539205 single base substitution C T downstream_gene_variant LAML-KR 12 48548459 48548459 single base substitution A G intron_variant LAML-KR 12 48548459 48548459 single base substitution A G upstream_gene_variant LAML-KR 12 48574459 48574459 single base substitution C T intron_variant LICA-CN 12 48543593 48543593 single base substitution C G 3_prime_UTR_variant LICA-CN 12 48543593 48543593 single base substitution C G downstream_gene_variant LICA-CN 12 48543593 48543593 single base substitution C G exon_variant LICA-CN 12 48543593 48543593 single base substitution C G synonymous_variant G141G 423G>C LICA-CN 12 48578186 48578186 single base substitution C A upstream_gene_variant LICA-FR 12 48543181 48543181 single base substitution A C downstream_gene_variant LICA-FR 12 48543181 48543181 single base substitution A C missense_variant S279A 835T>G LICA-FR 12 48543447 48543447 single base substitution C A 3_prime_UTR_variant LICA-FR 12 48543447 48543447 single base substitution C A downstream_gene_variant LICA-FR 12 48543447 48543447 single base substitution C A exon_variant LICA-FR 12 48543447 48543447 single base substitution C A missense_variant R190L 569G>T LICA-FR 12 48557835 48557835 single base substitution C A intron_variant LICA-FR 12 48566475 48566475 single base substitution C T intron_variant LICA-FR 12 48566612 48566612 single base substitution C G intron_variant LIHC-US 12 48577984 48577984 single base substitution G C upstream_gene_variant LINC-JP 12 48537853 48537853 single base substitution T C downstream_gene_variant LINC-JP 12 48543667 48543667 single base substitution T G 3_prime_UTR_variant LINC-JP 12 48543667 48543667 single base substitution T G downstream_gene_variant LINC-JP 12 48543667 48543667 single base substitution T G exon_variant LINC-JP 12 48543667 48543667 single base substitution T G missense_variant N117H 349A>C LINC-JP 12 48544805 48544805 single base substitution A C 3_prime_UTR_variant LINC-JP 12 48544805 48544805 single base substitution A C downstream_gene_variant LINC-JP 12 48544805 48544805 single base substitution A C intron_variant LINC-JP 12 48547415 48547415 single base substitution G T 5_prime_UTR_variant LINC-JP 12 48547415 48547415 single base substitution G T intron_variant LINC-JP 12 48547415 48547415 single base substitution G T upstream_gene_variant LINC-JP 12 48571088 48571088 single base substitution C A intron_variant LINC-JP 12 48578410 48578410 insertion of <=200bp - G upstream_gene_variant LIRI-JP 12 48538393 48538393 single base substitution T C downstream_gene_variant LIRI-JP 12 48538774 48538774 single base substitution A T downstream_gene_variant LIRI-JP 12 48543049 48543049 single base substitution A G 3_prime_UTR_variant LIRI-JP 12 48543049 48543049 single base substitution A G downstream_gene_variant LIRI-JP 12 48545377 48545377 single base substitution T C exon_variant LIRI-JP 12 48545377 48545377 single base substitution T C intron_variant LIRI-JP 12 48545377 48545377 single base substitution T C upstream_gene_variant LIRI-JP 12 48545698 48545698 single base substitution G C intron_variant LIRI-JP 12 48545698 48545698 single base substitution G C upstream_gene_variant LIRI-JP 12 48545699 48545699 single base substitution C G intron_variant LIRI-JP 12 48545699 48545699 single base substitution C G upstream_gene_variant LIRI-JP 12 48546291 48546291 single base substitution A G intron_variant LIRI-JP 12 48546291 48546291 single base substitution A G upstream_gene_variant LIRI-JP 12 48547612 48547612 single base substitution A G 5_prime_UTR_variant LIRI-JP 12 48547612 48547612 single base substitution A G intron_variant LIRI-JP 12 48547612 48547612 single base substitution A G upstream_gene_variant LIRI-JP 12 48547765 48547765 single base substitution T C intron_variant LIRI-JP 12 48547765 48547765 single base substitution T C upstream_gene_variant LIRI-JP 12 48548195 48548195 single base substitution C T intron_variant LIRI-JP 12 48548195 48548195 single base substitution C T upstream_gene_variant LIRI-JP 12 48548746 48548746 insertion of <=200bp - A intron_variant LIRI-JP 12 48548746 48548746 insertion of <=200bp - A upstream_gene_variant LIRI-JP 12 48551705 48551707 deletion of <=200bp GGA - intron_variant LIRI-JP 12 48551705 48551707 deletion of <=200bp GGA - upstream_gene_variant LIRI-JP 12 48552307 48552307 single base substitution G T intron_variant LIRI-JP 12 48552307 48552307 single base substitution G T upstream_gene_variant LIRI-JP 12 48552363 48552363 single base substitution C T intron_variant LIRI-JP 12 48552363 48552363 single base substitution C T upstream_gene_variant LIRI-JP 12 48555401 48555401 single base substitution T C intron_variant LIRI-JP 12 48555401 48555401 single base substitution T C upstream_gene_variant LIRI-JP 12 48555958 48555958 single base substitution T G intron_variant LIRI-JP 12 48555958 48555958 single base substitution T G upstream_gene_variant LIRI-JP 12 48556905 48556905 single base substitution G T intron_variant LIRI-JP 12 48557081 48557081 single base substitution A T intron_variant LIRI-JP 12 48557408 48557408 single base substitution T A intron_variant LIRI-JP 12 48559091 48559091 single base substitution A C intron_variant LIRI-JP 12 48561862 48561862 single base substitution G T intron_variant LIRI-JP 12 48562880 48562880 single base substitution C G intron_variant LIRI-JP 12 48562881 48562881 single base substitution C A intron_variant LIRI-JP 12 48564914 48564914 single base substitution G A intron_variant LIRI-JP 12 48565257 48565257 single base substitution G T intron_variant LIRI-JP 12 48565382 48565382 single base substitution G A intron_variant LIRI-JP 12 48566661 48566661 single base substitution C T intron_variant LIRI-JP 12 48573584 48573584 deletion of <=200bp A - intron_variant LIRI-JP 12 48575845 48575845 single base substitution A G upstream_gene_variant LIRI-JP 12 48579326 48579326 single base substitution T G upstream_gene_variant LIRI-JP 12 48579911 48579911 single base substitution T G upstream_gene_variant LUSC-KR 12 48537795 48537795 single base substitution A G downstream_gene_variant LUSC-KR 12 48540351 48540351 single base substitution C T downstream_gene_variant LUSC-KR 12 48542264 48542264 single base substitution G A 3_prime_UTR_variant LUSC-KR 12 48542264 48542264 single base substitution G A downstream_gene_variant LUSC-KR 12 48546905 48546905 single base substitution A C intron_variant LUSC-KR 12 48546905 48546905 single base substitution A C upstream_gene_variant LUSC-KR 12 48547479 48547479 single base substitution G T 5_prime_UTR_variant LUSC-KR 12 48547479 48547479 single base substitution G T intron_variant LUSC-KR 12 48547479 48547479 single base substitution G T upstream_gene_variant LUSC-KR 12 48552931 48552931 single base substitution T A intron_variant LUSC-KR 12 48552931 48552931 single base substitution T A upstream_gene_variant LUSC-KR 12 48555581 48555581 single base substitution C A intron_variant LUSC-KR 12 48555581 48555581 single base substitution C A upstream_gene_variant LUSC-KR 12 48559957 48559957 single base substitution G A intron_variant LUSC-KR 12 48564963 48564963 single base substitution T A intron_variant LUSC-KR 12 48568226 48568226 single base substitution A T intron_variant LUSC-KR 12 48569187 48569187 single base substitution C A intron_variant LUSC-KR 12 48571088 48571088 single base substitution C A intron_variant LUSC-KR 12 48574459 48574459 single base substitution C T intron_variant LUSC-KR 12 48578088 48578088 single base substitution G A upstream_gene_variant LUSC-US 12 48537939 48537939 single base substitution A T downstream_gene_variant LUSC-US 12 48538878 48538878 single base substitution G T downstream_gene_variant LUSC-US 12 48547277 48547277 single base substitution C A exon_variant LUSC-US 12 48547277 48547277 single base substitution C A intron_variant LUSC-US 12 48547277 48547277 single base substitution C A start_lost M1I 3G>T LUSC-US 12 48547277 48547277 single base substitution C A upstream_gene_variant MALY-DE 12 48538916 48538916 single base substitution A T downstream_gene_variant MALY-DE 12 48542804 48542804 single base substitution C T 3_prime_UTR_variant MALY-DE 12 48542804 48542804 single base substitution C T downstream_gene_variant MALY-DE 12 48545180 48545180 single base substitution C T intron_variant MALY-DE 12 48545180 48545180 single base substitution C T upstream_gene_variant MALY-DE 12 48564546 48564546 single base substitution G A intron_variant MALY-DE 12 48564773 48564773 single base substitution T C intron_variant MALY-DE 12 48565475 48565475 single base substitution A G intron_variant MALY-DE 12 48568042 48568044 deletion of <=200bp AAT - intron_variant MELA-AU 12 48536892 48536892 single base substitution T G downstream_gene_variant MELA-AU 12 48537892 48537892 single base substitution G A downstream_gene_variant MELA-AU 12 48538907 48538907 single base substitution C T downstream_gene_variant MELA-AU 12 48540236 48540236 single base substitution G A downstream_gene_variant MELA-AU 12 48540337 48540337 single base substitution A T downstream_gene_variant MELA-AU 12 48542700 48542700 single base substitution G A 3_prime_UTR_variant MELA-AU 12 48542700 48542700 single base substitution G A downstream_gene_variant MELA-AU 12 48542724 48542724 single base substitution G C 3_prime_UTR_variant MELA-AU 12 48542724 48542724 single base substitution G C downstream_gene_variant MELA-AU 12 48545094 48545094 single base substitution G A exon_variant MELA-AU 12 48545094 48545094 single base substitution G A intron_variant MELA-AU 12 48545094 48545094 single base substitution G A splice_region_variant MELA-AU 12 48546904 48546904 single base substitution G A intron_variant MELA-AU 12 48546904 48546904 single base substitution G A upstream_gene_variant MELA-AU 12 48546998 48546998 single base substitution G A intron_variant MELA-AU 12 48546998 48546998 single base substitution G A upstream_gene_variant MELA-AU 12 48547211 48547211 single base substitution G C exon_variant MELA-AU 12 48547211 48547211 single base substitution G C intron_variant MELA-AU 12 48547211 48547211 single base substitution G C missense_variant I23M 69C>G MELA-AU 12 48547211 48547211 single base substitution G C upstream_gene_variant MELA-AU 12 48547546 48547546 single base substitution G A 5_prime_UTR_variant MELA-AU 12 48547546 48547546 single base substitution G A intron_variant MELA-AU 12 48547546 48547546 single base substitution G A upstream_gene_variant MELA-AU 12 48547610 48547610 single base substitution G A 5_prime_UTR_variant MELA-AU 12 48547610 48547610 single base substitution G A intron_variant MELA-AU 12 48547610 48547610 single base substitution G A upstream_gene_variant MELA-AU 12 48547890 48547890 single base substitution G A intron_variant MELA-AU 12 48547890 48547890 single base substitution G A upstream_gene_variant MELA-AU 12 48549051 48549051 single base substitution G A intron_variant MELA-AU 12 48549051 48549051 single base substitution G A upstream_gene_variant MELA-AU 12 48551590 48551590 single base substitution C T intron_variant MELA-AU 12 48551590 48551590 single base substitution C T upstream_gene_variant MELA-AU 12 48552360 48552360 single base substitution C T intron_variant MELA-AU 12 48552360 48552360 single base substitution C T upstream_gene_variant MELA-AU 12 48552656 48552657 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 48552656 48552657 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 12 48552765 48552765 single base substitution G A intron_variant MELA-AU 12 48552765 48552765 single base substitution G A upstream_gene_variant MELA-AU 12 48553220 48553220 single base substitution T G intron_variant MELA-AU 12 48553220 48553220 single base substitution T G upstream_gene_variant MELA-AU 12 48553298 48553298 single base substitution G A intron_variant MELA-AU 12 48553298 48553298 single base substitution G A upstream_gene_variant MELA-AU 12 48553385 48553385 single base substitution A C intron_variant MELA-AU 12 48553385 48553385 single base substitution A C upstream_gene_variant MELA-AU 12 48553478 48553478 single base substitution G A intron_variant MELA-AU 12 48553478 48553478 single base substitution G A upstream_gene_variant MELA-AU 12 48553733 48553733 single base substitution G A intron_variant MELA-AU 12 48553733 48553733 single base substitution G A upstream_gene_variant MELA-AU 12 48554308 48554308 single base substitution T A intron_variant MELA-AU 12 48554308 48554308 single base substitution T A upstream_gene_variant MELA-AU 12 48554346 48554346 single base substitution A C intron_variant MELA-AU 12 48554346 48554346 single base substitution A C upstream_gene_variant MELA-AU 12 48554627 48554627 single base substitution T G intron_variant MELA-AU 12 48554627 48554627 single base substitution T G upstream_gene_variant MELA-AU 12 48554914 48554914 single base substitution G A intron_variant MELA-AU 12 48554914 48554914 single base substitution G A upstream_gene_variant MELA-AU 12 48555549 48555549 single base substitution G A intron_variant MELA-AU 12 48555549 48555549 single base substitution G A upstream_gene_variant MELA-AU 12 48555786 48555786 single base substitution C T intron_variant MELA-AU 12 48555786 48555786 single base substitution C T upstream_gene_variant MELA-AU 12 48555897 48555897 single base substitution C T intron_variant MELA-AU 12 48555897 48555897 single base substitution C T upstream_gene_variant MELA-AU 12 48556111 48556111 single base substitution C T intron_variant MELA-AU 12 48556111 48556111 single base substitution C T upstream_gene_variant MELA-AU 12 48556264 48556264 single base substitution C T intron_variant MELA-AU 12 48556264 48556264 single base substitution C T upstream_gene_variant MELA-AU 12 48556289 48556289 single base substitution G A intron_variant MELA-AU 12 48556289 48556289 single base substitution G A upstream_gene_variant MELA-AU 12 48557151 48557151 single base substitution G A intron_variant MELA-AU 12 48558019 48558019 single base substitution A G intron_variant MELA-AU 12 48559077 48559077 single base substitution C T intron_variant MELA-AU 12 48559078 48559078 single base substitution C T intron_variant MELA-AU 12 48559394 48559394 single base substitution G A intron_variant MELA-AU 12 48559751 48559751 single base substitution G A intron_variant MELA-AU 12 48560273 48560273 single base substitution G A intron_variant MELA-AU 12 48560635 48560635 single base substitution G A intron_variant MELA-AU 12 48560704 48560704 single base substitution C T intron_variant MELA-AU 12 48561173 48561173 single base substitution G A intron_variant MELA-AU 12 48561216 48561216 single base substitution G A intron_variant MELA-AU 12 48561341 48561341 single base substitution C T intron_variant MELA-AU 12 48561878 48561878 single base substitution G A intron_variant MELA-AU 12 48562255 48562255 single base substitution A T intron_variant MELA-AU 12 48562329 48562329 single base substitution G A intron_variant MELA-AU 12 48562358 48562358 single base substitution G A intron_variant MELA-AU 12 48562541 48562541 single base substitution T C intron_variant MELA-AU 12 48562979 48562979 single base substitution C T intron_variant MELA-AU 12 48563312 48563312 single base substitution C T intron_variant MELA-AU 12 48563322 48563322 single base substitution G A intron_variant MELA-AU 12 48564486 48564486 single base substitution G A intron_variant MELA-AU 12 48564642 48564642 single base substitution G A intron_variant MELA-AU 12 48564772 48564772 single base substitution T G intron_variant MELA-AU 12 48565231 48565231 single base substitution C T intron_variant MELA-AU 12 48565341 48565341 single base substitution G A intron_variant MELA-AU 12 48565938 48565938 single base substitution G A intron_variant MELA-AU 12 48566050 48566050 single base substitution T C intron_variant MELA-AU 12 48566545 48566545 single base substitution C T intron_variant MELA-AU 12 48566562 48566562 single base substitution G A intron_variant MELA-AU 12 48566714 48566714 single base substitution G A intron_variant MELA-AU 12 48566798 48566798 single base substitution G A intron_variant MELA-AU 12 48566804 48566804 single base substitution G A intron_variant MELA-AU 12 48566918 48566918 single base substitution G A intron_variant MELA-AU 12 48567189 48567189 single base substitution C T intron_variant MELA-AU 12 48567405 48567405 single base substitution G A intron_variant MELA-AU 12 48567626 48567626 single base substitution G A intron_variant MELA-AU 12 48567656 48567656 single base substitution T C intron_variant MELA-AU 12 48567853 48567853 single base substitution A G intron_variant MELA-AU 12 48567915 48567915 insertion of <=200bp - TGTAACT intron_variant MELA-AU 12 48568322 48568322 single base substitution G A intron_variant MELA-AU 12 48568457 48568457 single base substitution C T intron_variant MELA-AU 12 48568573 48568573 single base substitution C T intron_variant MELA-AU 12 48568965 48568965 single base substitution T A intron_variant MELA-AU 12 48569097 48569097 single base substitution G A intron_variant MELA-AU 12 48569535 48569535 single base substitution A C intron_variant MELA-AU 12 48569597 48569597 single base substitution C T intron_variant MELA-AU 12 48569814 48569814 single base substitution T G intron_variant MELA-AU 12 48569855 48569855 single base substitution T G intron_variant MELA-AU 12 48569874 48569874 single base substitution G A intron_variant MELA-AU 12 48569904 48569904 single base substitution C T intron_variant MELA-AU 12 48569905 48569905 single base substitution C T intron_variant MELA-AU 12 48570979 48570979 single base substitution C T intron_variant MELA-AU 12 48571410 48571410 single base substitution C A intron_variant MELA-AU 12 48571449 48571449 single base substitution C T intron_variant MELA-AU 12 48571853 48571853 single base substitution G A intron_variant MELA-AU 12 48571855 48571855 single base substitution G A intron_variant MELA-AU 12 48571860 48571861 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 48571872 48571872 single base substitution G A intron_variant MELA-AU 12 48571884 48571884 single base substitution G A intron_variant MELA-AU 12 48572000 48572000 single base substitution C T intron_variant MELA-AU 12 48572314 48572314 single base substitution G A intron_variant MELA-AU 12 48572524 48572524 single base substitution T C intron_variant MELA-AU 12 48572799 48572799 single base substitution G A intron_variant MELA-AU 12 48572847 48572847 single base substitution G A intron_variant MELA-AU 12 48573113 48573113 single base substitution C T intron_variant MELA-AU 12 48573114 48573114 single base substitution C T intron_variant MELA-AU 12 48573608 48573608 single base substitution G A intron_variant MELA-AU 12 48574197 48574197 single base substitution G A intron_variant MELA-AU 12 48574559 48574559 single base substitution C T intron_variant MELA-AU 12 48574881 48574881 single base substitution C T intron_variant MELA-AU 12 48575005 48575005 single base substitution C T upstream_gene_variant MELA-AU 12 48575782 48575782 single base substitution G A upstream_gene_variant MELA-AU 12 48577992 48577992 single base substitution G A upstream_gene_variant MELA-AU 12 48579922 48579922 single base substitution C T upstream_gene_variant ORCA-IN 12 48566589 48566589 single base substitution G C intron_variant OV-AU 12 48540601 48540601 single base substitution A G downstream_gene_variant OV-AU 12 48542937 48542937 single base substitution A C 3_prime_UTR_variant OV-AU 12 48542937 48542937 single base substitution A C downstream_gene_variant OV-AU 12 48544372 48544372 single base substitution C T downstream_gene_variant OV-AU 12 48544372 48544372 single base substitution C T intron_variant OV-AU 12 48558551 48558551 single base substitution G C intron_variant OV-AU 12 48562606 48562606 single base substitution G T intron_variant OV-AU 12 48572483 48572483 single base substitution G A intron_variant OV-AU 12 48572668 48572668 single base substitution G C intron_variant OV-AU 12 48572800 48572800 single base substitution G C intron_variant OV-AU 12 48574480 48574480 single base substitution T C intron_variant OV-AU 12 48579127 48579127 single base substitution T C upstream_gene_variant PACA-AU 12 48539474 48539474 single base substitution G A downstream_gene_variant PACA-AU 12 48540659 48540659 single base substitution A C downstream_gene_variant PACA-AU 12 48542074 48542074 single base substitution T A 3_prime_UTR_variant PACA-AU 12 48542074 48542074 single base substitution T A downstream_gene_variant PACA-AU 12 48550846 48550846 single base substitution C T intron_variant PACA-AU 12 48550846 48550846 single base substitution C T upstream_gene_variant PACA-AU 12 48558759 48558759 insertion of <=200bp - TA intron_variant PACA-AU 12 48559912 48559912 single base substitution T C intron_variant PACA-AU 12 48564667 48564667 single base substitution G A intron_variant PACA-AU 12 48565975 48565975 single base substitution C T intron_variant PACA-AU 12 48567798 48567798 single base substitution G A intron_variant PACA-AU 12 48571745 48571745 single base substitution C A intron_variant PACA-AU 12 48572319 48572319 single base substitution T A intron_variant PACA-AU 12 48572704 48572704 single base substitution G A intron_variant PACA-AU 12 48573597 48573597 single base substitution G A intron_variant PACA-AU 12 48573873 48573895 deletion of <=200bp CGAGACACCAGACAGAGGAAAAT - intron_variant PACA-AU 12 48574492 48574492 single base substitution C T intron_variant PACA-AU 12 48574876 48574876 single base substitution T C intron_variant PACA-AU 12 48579218 48579219 deletion of <=200bp AA - upstream_gene_variant PACA-CA 12 48538804 48538804 single base substitution C G downstream_gene_variant PACA-CA 12 48539064 48539064 single base substitution C T downstream_gene_variant PACA-CA 12 48539558 48539558 single base substitution C T downstream_gene_variant PACA-CA 12 48539563 48539563 single base substitution C T downstream_gene_variant PACA-CA 12 48541105 48541105 single base substitution C G downstream_gene_variant PACA-CA 12 48543113 48543113 single base substitution G A 3_prime_UTR_variant PACA-CA 12 48543113 48543113 single base substitution G A downstream_gene_variant PACA-CA 12 48556596 48556596 single base substitution A T intron_variant PACA-CA 12 48559407 48559410 deletion of <=200bp GACT - intron_variant PACA-CA 12 48563096 48563096 single base substitution G A intron_variant PACA-CA 12 48564781 48564781 single base substitution A G intron_variant PACA-CA 12 48565362 48565362 single base substitution C G intron_variant PACA-CA 12 48565596 48565596 single base substitution T A intron_variant PACA-CA 12 48565983 48565983 single base substitution G T intron_variant PACA-CA 12 48568041 48568041 single base substitution A T intron_variant PACA-CA 12 48569188 48569188 single base substitution G T intron_variant PACA-CA 12 48571764 48571764 single base substitution C A intron_variant PACA-CA 12 48574239 48574239 single base substitution G A intron_variant PACA-CA 12 48575722 48575722 single base substitution T A upstream_gene_variant PACA-CA 12 48578996 48578996 single base substitution T C upstream_gene_variant PACA-CA 12 48579613 48579613 single base substitution T G upstream_gene_variant PAEN-AU 12 48561441 48561441 single base substitution G A intron_variant PAEN-AU 12 48572491 48572491 single base substitution C A intron_variant PAEN-IT 12 48540560 48540560 single base substitution G T downstream_gene_variant PAEN-IT 12 48558444 48558444 single base substitution C T intron_variant PAEN-IT 12 48562575 48562575 single base substitution C A intron_variant PBCA-DE 12 48543252 48543252 single base substitution C T downstream_gene_variant PBCA-DE 12 48543252 48543252 single base substitution C T exon_variant PBCA-DE 12 48543252 48543252 single base substitution C T missense_variant R255H 764G>A PBCA-DE 12 48553559 48553559 insertion of <=200bp - AT intron_variant PBCA-DE 12 48553559 48553559 insertion of <=200bp - AT upstream_gene_variant PBCA-DE 12 48554830 48554830 single base substitution T C intron_variant PBCA-DE 12 48554830 48554830 single base substitution T C upstream_gene_variant PBCA-DE 12 48558705 48558705 insertion of <=200bp - A intron_variant PBCA-DE 12 48560398 48560398 deletion of <=200bp A - intron_variant PBCA-DE 12 48562705 48562705 single base substitution C T intron_variant PBCA-DE 12 48568042 48568042 insertion of <=200bp - AAT intron_variant PBCA-DE 12 48574459 48574459 single base substitution C T intron_variant PRAD-CA 12 48574491 48574491 single base substitution T C intron_variant PRAD-UK 12 48542857 48542857 single base substitution C T 3_prime_UTR_variant PRAD-UK 12 48542857 48542857 single base substitution C T downstream_gene_variant PRAD-UK 12 48559294 48559294 single base substitution G A intron_variant PRAD-UK 12 48560373 48560373 single base substitution C T intron_variant PRAD-UK 12 48570657 48570657 single base substitution A G intron_variant PRAD-UK 12 48570830 48570830 single base substitution T G intron_variant PRAD-UK 12 48573500 48573500 single base substitution A T intron_variant RECA-EU 12 48552754 48552754 single base substitution G A intron_variant RECA-EU 12 48552754 48552754 single base substitution G A upstream_gene_variant RECA-EU 12 48561638 48561638 single base substitution T A intron_variant RECA-EU 12 48569410 48569410 single base substitution T A intron_variant RECA-EU 12 48571478 48571478 single base substitution A T intron_variant SKCA-BR 12 48547700 48547700 single base substitution T A 5_prime_UTR_variant SKCA-BR 12 48547700 48547700 single base substitution T A intron_variant SKCA-BR 12 48547700 48547700 single base substitution T A upstream_gene_variant SKCA-BR 12 48549523 48549523 insertion of <=200bp - AAT intron_variant SKCA-BR 12 48549523 48549523 insertion of <=200bp - AAT upstream_gene_variant SKCA-BR 12 48549563 48549563 insertion of <=200bp - AT intron_variant SKCA-BR 12 48549563 48549563 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 12 48549580 48549580 single base substitution G A intron_variant SKCA-BR 12 48549580 48549580 single base substitution G A upstream_gene_variant SKCA-BR 12 48549581 48549581 single base substitution C T intron_variant SKCA-BR 12 48549581 48549581 single base substitution C T upstream_gene_variant SKCA-BR 12 48552328 48552328 insertion of <=200bp - TTTATTATTA intron_variant SKCA-BR 12 48552328 48552328 insertion of <=200bp - TTTATTATTA upstream_gene_variant SKCA-BR 12 48555303 48555303 single base substitution G A intron_variant SKCA-BR 12 48555303 48555303 single base substitution G A upstream_gene_variant SKCA-BR 12 48560579 48560579 single base substitution C T intron_variant SKCA-BR 12 48561341 48561341 single base substitution C T intron_variant SKCA-BR 12 48562744 48562744 single base substitution C T intron_variant SKCA-BR 12 48566486 48566486 single base substitution C T intron_variant SKCA-BR 12 48566562 48566562 single base substitution G A intron_variant SKCA-BR 12 48568041 48568041 insertion of <=200bp - AAATAATAAT intron_variant SKCA-BR 12 48568176 48568176 single base substitution G A intron_variant SKCA-BR 12 48568258 48568258 single base substitution C T intron_variant SKCA-BR 12 48569374 48569374 single base substitution A G intron_variant SKCA-BR 12 48571884 48571884 single base substitution G A intron_variant SKCA-BR 12 48572383 48572383 single base substitution G A intron_variant SKCA-BR 12 48573266 48573266 single base substitution C T intron_variant SKCA-BR 12 48574467 48574467 insertion of <=200bp - TTTTC intron_variant SKCA-BR 12 48574487 48574487 single base substitution C T intron_variant SKCA-BR 12 48574488 48574488 insertion of <=200bp - TTTCTTTTCTTTCTTTTTC intron_variant SKCA-BR 12 48575374 48575374 single base substitution G A upstream_gene_variant SKCA-BR 12 48575877 48575877 single base substitution C T upstream_gene_variant SKCA-BR 12 48575879 48575879 single base substitution C T upstream_gene_variant SKCA-BR 12 48575997 48575997 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 12 48577836 48577836 single base substitution A C upstream_gene_variant SKCA-BR 12 48578511 48578511 single base substitution C A upstream_gene_variant SKCM-US 12 48536634 48536634 single base substitution G A downstream_gene_variant SKCM-US 12 48537892 48537892 single base substitution G A downstream_gene_variant SKCM-US 12 48578049 48578049 single base substitution A G upstream_gene_variant SKCM-US 12 48578083 48578083 single base substitution G A upstream_gene_variant SKCM-US 12 48578238 48578238 single base substitution C G upstream_gene_variant SKCM-US 12 48578275 48578275 single base substitution G A upstream_gene_variant SKCM-US 12 48578415 48578415 single base substitution G A upstream_gene_variant STAD-US 12 48543596 48543596 single base substitution G A 3_prime_UTR_variant STAD-US 12 48543596 48543596 single base substitution G A downstream_gene_variant STAD-US 12 48543596 48543596 single base substitution G A exon_variant STAD-US 12 48543596 48543596 single base substitution G A synonymous_variant S140S 420C>T STAD-US 12 48547247 48547247 single base substitution G A exon_variant STAD-US 12 48547247 48547247 single base substitution G A intron_variant STAD-US 12 48547247 48547247 single base substitution G A synonymous_variant S11S 33C>T STAD-US 12 48547247 48547247 single base substitution G A upstream_gene_variant STAD-US 12 48578233 48578233 single base substitution A G upstream_gene_variant UCEC-US 12 48536608 48536608 single base substitution G A downstream_gene_variant UCEC-US 12 48536719 48536719 single base substitution G A downstream_gene_variant UCEC-US 12 48537586 48537586 single base substitution C A downstream_gene_variant UCEC-US 12 48538839 48538839 single base substitution G T downstream_gene_variant UCEC-US 12 48539356 48539356 single base substitution C T downstream_gene_variant UCEC-US 12 48539462 48539462 single base substitution C T downstream_gene_variant UCEC-US 12 48543244 48543244 single base substitution C T downstream_gene_variant UCEC-US 12 48543244 48543244 single base substitution C T exon_variant UCEC-US 12 48543244 48543244 single base substitution C T missense_variant V258M 772G>A UCEC-US 12 48543406 48543406 single base substitution C A 3_prime_UTR_variant UCEC-US 12 48543406 48543406 single base substitution C A downstream_gene_variant UCEC-US 12 48543406 48543406 single base substitution C A exon_variant UCEC-US 12 48543406 48543406 single base substitution C A stop_gained E204* 610G>T UCEC-US 12 48543596 48543596 single base substitution G A 3_prime_UTR_variant UCEC-US 12 48543596 48543596 single base substitution G A downstream_gene_variant UCEC-US 12 48543596 48543596 single base substitution G A exon_variant UCEC-US 12 48543596 48543596 single base substitution G A synonymous_variant S140S 420C>T UCEC-US 12 48543613 48543613 single base substitution G A 3_prime_UTR_variant UCEC-US 12 48543613 48543613 single base substitution G A downstream_gene_variant UCEC-US 12 48543613 48543613 single base substitution G A exon_variant UCEC-US 12 48543613 48543613 single base substitution G A missense_variant R135W 403C>T UCEC-US 12 48547192 48547192 single base substitution G A exon_variant UCEC-US 12 48547192 48547192 single base substitution G A intron_variant UCEC-US 12 48547192 48547192 single base substitution G A missense_variant R30C 88C>T UCEC-US 12 48547192 48547192 single base substitution G A upstream_gene_variant UCEC-US 12 48577967 48577967 single base substitution A G upstream_gene_variant UCEC-US 12 48578326 48578326 single base substitution G A upstream_gene_variant UCEC-US 12 48578373 48578373 single base substitution C A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BH-A0B4-01 COSM431173 c.657A>C p.E219D Substitution - Missense 12:48149576-48149576 - BCM325T COSM4798977 c.569G>T p.R190L Substitution - Missense 12:48149664-48149664 - CHC2103T COSM4952708 c.835T>G p.S279A Substitution - Missense 12:48149398-48149398 - TCGA-F4-6856-01 COSM1361861 c.71G>A p.R24Q Substitution - Missense 12:48153426-48153426 - TCGA-AA-3510-01 COSM1361861 c.71G>A p.R24Q Substitution - Missense 12:48153426-48153426 - Pat_34_A COSM5841056 c.167C>T p.P56L Substitution - Missense 12:48151268-48151268 - TCGA-A5-A0VP-01 COSM939792 c.420C>T p.S140S Substitution - coding silent 12:48149813-48149813 - TCGA-B5-A11E-01 COSM939797 c.88C>T p.R30C Substitution - Missense 12:48153409-48153409 - TCGA-A3-3316-01 COSM1492952 c.457A>G p.T153A Substitution - Missense 12:48149776-48149776 - ESO-717 COSM1242012 c.664A>G p.K222E Substitution - Missense 12:48149569-48149569 - S00941 COSM5663630 c.799C>T p.L267F Substitution - Missense 12:48149434-48149434 - TCGA-BR-4184-01 COSM939792 c.420C>T p.S140S Substitution - coding silent 12:48149813-48149813 - LC_S25 COSM1188481 c.793C>T p.Q265* Substitution - Nonsense 12:48149440-48149440 - CHC2103T COSM4952708 c.835T>G p.S279A Substitution - Missense 12:48149398-48149398 - HX26T COSM3704177 c.349A>C p.N117H Substitution - Missense 12:48149884-48149884 - TCGA-AP-A0LM-01 COSM939791 c.610G>T p.E204* Substitution - Nonsense 12:48149623-48149623 - SNU-175 COSM2005749 c.552C>T p.G184G Substitution - coding silent 12:48149681-48149681 - CSCC-19-T COSM4547202 c.417G>A p.E139E Substitution - coding silent 12:48149816-48149816 - T3658 COSM4663657 c.421G>A p.G141R Substitution - Missense 12:48149812-48149812 - LUAD-B00859 COSM332222 c.770C>T p.A257V Substitution - Missense 12:48149463-48149463 - TCGA-A5-A0VP-01 COSM939790 c.772G>A p.V258M Substitution - Missense 12:48149461-48149461 - 587284 COSM1183747 c.775C>T p.R259C Substitution - Missense 12:48149458-48149458 - D01 COSM5543736 c.452A>G p.N151S Substitution - Missense 12:48149781-48149781 - HCC074T COSM5810033 c.423G>C p.G141G Substitution - coding silent 12:48149810-48149810 - 61 COSM5739630 c.242C>T p.A81V Substitution - Missense 12:48149991-48149991 - 587376 COSM1183748 c.823C>T p.P275S Substitution - Missense 12:48149410-48149410 - LP6005334-DNA_B02 COSM5035367 c.483G>A p.K161K Substitution - coding silent 12:48149750-48149750 - PD6719a COSM1188481 c.793C>T p.Q265* Substitution - Nonsense 12:48149440-48149440 - HCT15 COSM2005769 c.21T>C p.Y7Y Substitution - coding silent 12:48153476-48153476 - TCGA-AA-3875-01 COSM272126 c.80C>T p.A27V Substitution - Missense 12:48153417-48153417 - TCGA-B4-5832-01 COSM1492951 c.97C>T p.P33S Substitution - Missense 12:48153400-48153400 - BCM325T COSM4798977 c.569G>T p.R190L Substitution - Missense 12:48149664-48149664 - DLD1 COSM2005769 c.21T>C p.Y7Y Substitution - coding silent 12:48153476-48153476 - TCGA-D1-A103-01 COSM939793 c.403C>T p.R135W Substitution - Missense 12:48149830-48149830 - CSCC-16-T COSM4544294 c.353G>A p.R118K Substitution - Missense 12:48149880-48149880 - TCGA-06-0192 COSM2150655 c.387C>A p.N129K Substitution - Missense 12:48149846-48149846 - 396 COSM4428783 c.87C>G p.I29M Substitution - Missense 12:48153410-48153410 - SM-4AX83 COSM5953218 c.701C>T p.P234L Substitution - Missense 12:48149532-48149532 - TCGA-BP-4756-01 COSM2005767 c.58G>A p.E20K Substitution - Missense 12:48153439-48153439 - PT45 COSM5927665 c.128G>A p.G43E Substitution - Missense 12:48153369-48153369 - TCGA-66-2734-01 COSM693782 c.3G>T p.M1I Substitution - Missense 12:48153494-48153494 - PD4104a COSM159216 c.697G>A p.D233N Substitution - Missense 12:48149536-48149536 - T2944 COSM939790 c.772G>A p.V258M Substitution - Missense 12:48149461-48149461 - TCGA-06-0192-01 COSM2150655 c.387C>A p.N129K Substitution - Missense 12:48149846-48149846 - ICGC_MB88 COSM3764419 c.764G>A p.R255H Substitution - Missense 12:48149469-48149469 - 08-067 COSM305486 c.781A>G p.S261G Substitution - Missense 12:48149452-48149452 - TCGA-BR-8081-01 COSM4042210 c.33C>T p.S11S Substitution - coding silent 12:48153464-48153464 - S02139 COSM5674114 c.722C>A p.T241N Substitution - Missense 12:48149511-48149511 - TCGA-B1-A655-01 COSM4414839 c.280G>A p.A94T Substitution - Missense 12:48149953-48149953 - PD2191a COSM28461 c.187G>A p.V63M Substitution - Missense 12:48151248-48151248 - TCGA-GU-A42R-01 COSM3792619 c.37C>T p.Q13* Substitution - Nonsense 12:48153460-48153460 - TCGA-B8-4146-01 COSM468411 c.558A>G p.T186T Substitution - coding silent 12:48149675-48149675 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.432699 12q13.11

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Missense p.G43V c.128G>T 12 48547152 CM C A Missense p.M1I c.3G>T 12 48547277 LUSC C A Synonymous p.P154P c.462G>T 12 48543554 LUAD C G Synonymous p.V47V c.141G>C 12 48545077 HNSC C T Missense p.D233N c.697G>A 12 48543319 BRCA C T Missense p.E20K c.58G>A 12 48547222 RCCC C T Missense p.R255H c.764G>A 12 48543252 MB C T Missense p.V258M c.772G>A 12 48543244 UCEC C T Synonymous p.V230V c.690G>A 12 48543326 HNSC G A Missense p.A27V c.80C>T 12 48547200 COREAD G A Synonymous p.G174G c.522C>T 12 48543494 COREAD G A Synonymous p.S140S c.420C>T 12 48543596 UCEC G T Missense p.N129K c.387C>A 12 48543629 GBM G T Missense p.N181K c.543C>A 12 48543473 LUAD T C CdsStopSNV . c.864A>G 12 48543152 HNSC T C Missense p.Y92C c.275A>G 12 48543741 HNSC T C Synonymous p.T186T c.558A>G 12 48543458 RCCC T G Missense p.E219D c.657A>C 12 48543359 BRCA