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 10365807 10365807 + Missense_Mutation SNP G G T TCGA-OR-A5JA-01A-11D-A29I-10 TCGA-OR-A5JA-10A-01D-A29L-10 g.chr12:10365807G>T c.79G>T c.(79-81)Gac>Tac p.D27Y COAD 12 10373090 10373090 + Missense_Mutation SNP A A G TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr12:10373090A>G c.221A>G c.(220-222)gAc>gGc p.D74G COADREAD 12 10373090 10373090 + Missense_Mutation SNP A A G TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr12:10373090A>G c.221A>G c.(220-222)gAc>gGc p.D74G ESCA 12 10370694 10370694 + Silent SNP G G T TCGA-V5-AASW-01A-11D-A403-09 TCGA-V5-AASW-10A-01D-A403-09 g.chr12:10370694G>T c.123G>T c.(121-123)gtG>gtT p.V41V HNSC 12 10374431 10374431 + Missense_Mutation SNP G G C TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 g.chr12:10374431G>C c.334G>C c.(334-336)Gag>Cag p.E112Q LUAD 12 10374401 10374401 + Missense_Mutation SNP G G T TCGA-35-4122-01A-01D-1105-08 TCGA-35-4122-10A-01D-1105-08 g.chr12:10374401G>T c.304G>T c.(304-306)Gac>Tac p.D102Y PAAD 12 10374440 10374440 + Missense_Mutation SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:10374440T>C c.343T>C c.(343-345)Tat>Cat p.Y115H

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 12 10360532 10360532 single base substitution C A upstream_gene_variant BRCA-EU 12 10360729 10360729 single base substitution C T upstream_gene_variant BRCA-EU 12 10362028 10362028 single base substitution C A upstream_gene_variant BRCA-EU 12 10362383 10362383 single base substitution G A upstream_gene_variant BRCA-EU 12 10362832 10362832 single base substitution T A upstream_gene_variant BRCA-EU 12 10362988 10362988 single base substitution C G upstream_gene_variant BRCA-EU 12 10363580 10363580 single base substitution G A upstream_gene_variant BRCA-EU 12 10364483 10364483 single base substitution A G upstream_gene_variant BRCA-EU 12 10365228 10365228 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 12 10365228 10365228 single base substitution G C upstream_gene_variant BRCA-EU 12 10367021 10367021 single base substitution A C 3_prime_UTR_variant BRCA-EU 12 10367021 10367021 single base substitution A C downstream_gene_variant BRCA-EU 12 10367021 10367021 single base substitution A C intron_variant BRCA-EU 12 10368914 10368914 single base substitution G A downstream_gene_variant BRCA-EU 12 10368914 10368914 single base substitution G A intron_variant BRCA-EU 12 10369141 10369141 insertion of <=200bp - C downstream_gene_variant BRCA-EU 12 10369141 10369141 insertion of <=200bp - C intron_variant BRCA-EU 12 10369983 10369983 single base substitution T C downstream_gene_variant BRCA-EU 12 10369983 10369983 single base substitution T C intron_variant BRCA-EU 12 10371151 10371151 single base substitution A C downstream_gene_variant BRCA-EU 12 10371151 10371151 single base substitution A C intron_variant BRCA-EU 12 10371290 10371293 deletion of <=200bp TTAA - downstream_gene_variant BRCA-EU 12 10371290 10371293 deletion of <=200bp TTAA - intron_variant BRCA-EU 12 10372838 10372838 single base substitution C A intron_variant BRCA-EU 12 10373591 10373591 single base substitution G A downstream_gene_variant BRCA-EU 12 10373591 10373591 single base substitution G A intron_variant BRCA-EU 12 10376798 10376798 single base substitution A G downstream_gene_variant BRCA-EU 12 10377415 10377415 single base substitution G T downstream_gene_variant BRCA-EU 12 10377668 10377668 single base substitution C A downstream_gene_variant BRCA-EU 12 10377889 10377889 single base substitution C A downstream_gene_variant BRCA-EU 12 10377890 10377890 single base substitution C G downstream_gene_variant BRCA-EU 12 10378278 10378278 single base substitution G T downstream_gene_variant BRCA-EU 12 10379005 10379005 single base substitution G T downstream_gene_variant BRCA-EU 12 10379974 10379974 single base substitution G A downstream_gene_variant BRCA-EU 12 10380118 10380118 single base substitution T A downstream_gene_variant BRCA-EU 12 10380197 10380199 deletion of <=200bp AAC - downstream_gene_variant BRCA-FR 12 10362028 10362028 single base substitution C A upstream_gene_variant BRCA-FR 12 10362383 10362383 single base substitution G A upstream_gene_variant BRCA-FR 12 10362766 10362766 single base substitution A T upstream_gene_variant BRCA-FR 12 10362768 10362768 single base substitution T A upstream_gene_variant BRCA-UK 12 10366070 10366070 single base substitution C T 3_prime_UTR_variant BRCA-UK 12 10366070 10366070 single base substitution C T 5_prime_UTR_variant BRCA-UK 12 10366070 10366070 single base substitution C T exon_variant BRCA-UK 12 10366070 10366070 single base substitution C T intron_variant BRCA-UK 12 10366070 10366070 single base substitution C T upstream_gene_variant CESC-US 12 10373281 10373281 single base substitution C A downstream_gene_variant CESC-US 12 10373281 10373281 single base substitution C A intron_variant CESC-US 12 10373281 10373281 single base substitution C A missense_variant P138T 412C>A CLLE-ES 12 10379609 10379610 multiple base substitution (>=2bp and <=200bp) GC TT downstream_gene_variant COAD-US 12 10373090 10373090 single base substitution A G 3_prime_UTR_variant COAD-US 12 10373090 10373090 single base substitution A G 5_prime_UTR_variant COAD-US 12 10373090 10373090 single base substitution A G downstream_gene_variant COAD-US 12 10373090 10373090 single base substitution A G exon_variant COAD-US 12 10373090 10373090 single base substitution A G missense_variant D74G 221A>G COCA-CN 12 10363395 10363395 single base substitution A G upstream_gene_variant COCA-CN 12 10363869 10363869 single base substitution C T upstream_gene_variant COCA-CN 12 10364823 10364823 single base substitution G T upstream_gene_variant COCA-CN 12 10365743 10365743 single base substitution C T exon_variant COCA-CN 12 10365743 10365743 single base substitution C T splice_region_variant COCA-CN 12 10365743 10365743 single base substitution C T synonymous_variant Y5Y 15C>T COCA-CN 12 10365743 10365743 single base substitution C T upstream_gene_variant COCA-CN 12 10369007 10369007 single base substitution G C downstream_gene_variant COCA-CN 12 10369007 10369007 single base substitution G C intron_variant COCA-CN 12 10370786 10370786 single base substitution C A downstream_gene_variant COCA-CN 12 10370786 10370786 single base substitution C A intron_variant COCA-CN 12 10374387 10374387 single base substitution A G downstream_gene_variant COCA-CN 12 10374387 10374387 single base substitution A G missense_variant D7G 20A>G COCA-CN 12 10374387 10374387 single base substitution A G missense_variant D97G 290A>G COCA-CN 12 10374387 10374387 single base substitution A G splice_region_variant COCA-CN 12 10375972 10375972 single base substitution A T downstream_gene_variant COCA-CN 12 10378547 10378547 single base substitution C T downstream_gene_variant EOPC-DE 12 10373470 10373470 single base substitution C T downstream_gene_variant EOPC-DE 12 10373470 10373470 single base substitution C T intron_variant ESAD-UK 12 10360544 10360544 single base substitution C T upstream_gene_variant ESAD-UK 12 10360553 10360553 single base substitution A C upstream_gene_variant ESAD-UK 12 10360748 10360748 single base substitution G A upstream_gene_variant ESAD-UK 12 10362129 10362129 single base substitution G A upstream_gene_variant ESAD-UK 12 10363060 10363060 single base substitution G A upstream_gene_variant ESAD-UK 12 10365891 10365891 single base substitution T C exon_variant ESAD-UK 12 10365891 10365891 single base substitution T C intron_variant ESAD-UK 12 10365891 10365891 single base substitution T C upstream_gene_variant ESAD-UK 12 10366005 10366005 single base substitution C T exon_variant ESAD-UK 12 10366005 10366005 single base substitution C T intron_variant ESAD-UK 12 10366005 10366005 single base substitution C T upstream_gene_variant ESAD-UK 12 10366979 10366979 deletion of <=200bp A - 3_prime_UTR_variant ESAD-UK 12 10366979 10366979 deletion of <=200bp A - downstream_gene_variant ESAD-UK 12 10366979 10366979 deletion of <=200bp A - intron_variant ESAD-UK 12 10374969 10374969 single base substitution T C 3_prime_UTR_variant ESAD-UK 12 10374969 10374969 single base substitution T C downstream_gene_variant ESAD-UK 12 10375365 10375365 single base substitution C T 3_prime_UTR_variant ESAD-UK 12 10375365 10375365 single base substitution C T downstream_gene_variant ESAD-UK 12 10375553 10375553 single base substitution G A 3_prime_UTR_variant ESAD-UK 12 10375553 10375553 single base substitution G A downstream_gene_variant ESAD-UK 12 10375837 10375837 single base substitution C T downstream_gene_variant ESAD-UK 12 10375976 10375976 single base substitution A T downstream_gene_variant ESAD-UK 12 10376955 10376955 single base substitution T C downstream_gene_variant ESAD-UK 12 10377309 10377309 single base substitution G A downstream_gene_variant ESAD-UK 12 10379666 10379666 single base substitution A C downstream_gene_variant ESAD-UK 12 10380592 10380592 single base substitution T G downstream_gene_variant LICA-FR 12 10361595 10361595 insertion of <=200bp - ACAC upstream_gene_variant LICA-FR 12 10363094 10363094 single base substitution C T upstream_gene_variant LICA-FR 12 10375451 10375451 single base substitution A G 3_prime_UTR_variant LICA-FR 12 10375451 10375451 single base substitution A G downstream_gene_variant LINC-JP 12 10365531 10365531 single base substitution C T 5_prime_UTR_variant LINC-JP 12 10365531 10365531 single base substitution C T intron_variant LINC-JP 12 10365531 10365531 single base substitution C T upstream_gene_variant LINC-JP 12 10374516 10374516 single base substitution G A 3_prime_UTR_variant LINC-JP 12 10374516 10374516 single base substitution G A downstream_gene_variant LINC-JP 12 10380325 10380325 single base substitution T C downstream_gene_variant LIRI-JP 12 10362914 10362914 single base substitution G A upstream_gene_variant LIRI-JP 12 10363151 10363151 single base substitution T C upstream_gene_variant LIRI-JP 12 10363647 10363647 single base substitution G A upstream_gene_variant LIRI-JP 12 10363694 10363694 single base substitution G A upstream_gene_variant LIRI-JP 12 10364489 10364489 single base substitution T C upstream_gene_variant LIRI-JP 12 10364922 10364922 single base substitution T C upstream_gene_variant LIRI-JP 12 10367393 10367393 single base substitution A G downstream_gene_variant LIRI-JP 12 10367393 10367393 single base substitution A G intron_variant LIRI-JP 12 10367421 10367421 single base substitution T C downstream_gene_variant LIRI-JP 12 10367421 10367421 single base substitution T C intron_variant LIRI-JP 12 10368649 10368649 single base substitution A G downstream_gene_variant LIRI-JP 12 10368649 10368649 single base substitution A G intron_variant LIRI-JP 12 10369585 10369585 single base substitution A G downstream_gene_variant LIRI-JP 12 10369585 10369585 single base substitution A G intron_variant LIRI-JP 12 10369754 10369754 single base substitution A G downstream_gene_variant LIRI-JP 12 10369754 10369754 single base substitution A G intron_variant LIRI-JP 12 10374855 10374855 single base substitution T C 3_prime_UTR_variant LIRI-JP 12 10374855 10374855 single base substitution T C downstream_gene_variant LIRI-JP 12 10375977 10375977 insertion of <=200bp - GG downstream_gene_variant LIRI-JP 12 10378831 10378831 single base substitution A G downstream_gene_variant LIRI-JP 12 10380590 10380590 single base substitution A G downstream_gene_variant LUSC-KR 12 10360298 10360298 single base substitution A G upstream_gene_variant LUSC-KR 12 10360310 10360310 single base substitution C A upstream_gene_variant LUSC-KR 12 10361931 10361931 single base substitution G T upstream_gene_variant LUSC-KR 12 10368671 10368671 single base substitution A G downstream_gene_variant LUSC-KR 12 10368671 10368671 single base substitution A G intron_variant LUSC-KR 12 10368790 10368790 single base substitution G A downstream_gene_variant LUSC-KR 12 10368790 10368790 single base substitution G A intron_variant LUSC-KR 12 10375302 10375302 single base substitution C A 3_prime_UTR_variant LUSC-KR 12 10375302 10375302 single base substitution C A downstream_gene_variant MALY-DE 12 10368527 10368527 single base substitution C A downstream_gene_variant MALY-DE 12 10368527 10368527 single base substitution C A intron_variant MALY-DE 12 10372357 10372357 single base substitution G A intron_variant MALY-DE 12 10372559 10372559 single base substitution C G intron_variant MALY-DE 12 10377079 10377079 single base substitution A C downstream_gene_variant MELA-AU 12 10360468 10360468 single base substitution G A upstream_gene_variant MELA-AU 12 10360969 10360969 single base substitution G A upstream_gene_variant MELA-AU 12 10361096 10361096 single base substitution C T upstream_gene_variant MELA-AU 12 10361192 10361192 single base substitution C T upstream_gene_variant MELA-AU 12 10361646 10361646 single base substitution G A upstream_gene_variant MELA-AU 12 10361668 10361668 single base substitution C T upstream_gene_variant MELA-AU 12 10361731 10361731 single base substitution G A upstream_gene_variant MELA-AU 12 10362129 10362129 single base substitution G A upstream_gene_variant MELA-AU 12 10362261 10362261 single base substitution C T upstream_gene_variant MELA-AU 12 10362336 10362336 single base substitution C T upstream_gene_variant MELA-AU 12 10362442 10362442 single base substitution C T upstream_gene_variant MELA-AU 12 10362518 10362518 single base substitution G A upstream_gene_variant MELA-AU 12 10362654 10362654 single base substitution G A upstream_gene_variant MELA-AU 12 10362983 10362983 single base substitution C T upstream_gene_variant MELA-AU 12 10363217 10363217 single base substitution C T upstream_gene_variant MELA-AU 12 10363469 10363469 single base substitution C T upstream_gene_variant MELA-AU 12 10363483 10363483 single base substitution C T upstream_gene_variant MELA-AU 12 10363537 10363537 single base substitution C T upstream_gene_variant MELA-AU 12 10363588 10363588 single base substitution C T upstream_gene_variant MELA-AU 12 10363857 10363857 single base substitution C T upstream_gene_variant MELA-AU 12 10364060 10364060 single base substitution G A upstream_gene_variant MELA-AU 12 10365415 10365415 single base substitution G A 5_prime_UTR_variant MELA-AU 12 10365415 10365415 single base substitution G A intron_variant MELA-AU 12 10365415 10365415 single base substitution G A upstream_gene_variant MELA-AU 12 10366537 10366537 single base substitution T C 3_prime_UTR_variant MELA-AU 12 10366537 10366537 single base substitution T C 5_prime_UTR_variant MELA-AU 12 10366537 10366537 single base substitution T C intron_variant MELA-AU 12 10368417 10368417 single base substitution C T downstream_gene_variant MELA-AU 12 10368417 10368417 single base substitution C T intron_variant MELA-AU 12 10368422 10368422 single base substitution T G downstream_gene_variant MELA-AU 12 10368422 10368422 single base substitution T G intron_variant MELA-AU 12 10368556 10368556 single base substitution C T downstream_gene_variant MELA-AU 12 10368556 10368556 single base substitution C T intron_variant MELA-AU 12 10369202 10369202 single base substitution G A downstream_gene_variant MELA-AU 12 10369202 10369202 single base substitution G A intron_variant MELA-AU 12 10369237 10369237 single base substitution C T downstream_gene_variant MELA-AU 12 10369237 10369237 single base substitution C T intron_variant MELA-AU 12 10369281 10369281 single base substitution A T downstream_gene_variant MELA-AU 12 10369281 10369281 single base substitution A T intron_variant MELA-AU 12 10371096 10371096 single base substitution C T downstream_gene_variant MELA-AU 12 10371096 10371096 single base substitution C T intron_variant MELA-AU 12 10371937 10371937 single base substitution A C downstream_gene_variant MELA-AU 12 10371937 10371937 single base substitution A C intron_variant MELA-AU 12 10371955 10371955 single base substitution C T downstream_gene_variant MELA-AU 12 10371955 10371955 single base substitution C T intron_variant MELA-AU 12 10372281 10372281 single base substitution C T downstream_gene_variant MELA-AU 12 10372281 10372281 single base substitution C T intron_variant MELA-AU 12 10372635 10372635 single base substitution C T intron_variant MELA-AU 12 10373552 10373552 single base substitution C T downstream_gene_variant MELA-AU 12 10373552 10373552 single base substitution C T intron_variant MELA-AU 12 10374379 10374379 single base substitution C T downstream_gene_variant MELA-AU 12 10374379 10374379 single base substitution C T intron_variant MELA-AU 12 10374380 10374381 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 12 10374380 10374381 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 10374569 10374569 single base substitution C T 3_prime_UTR_variant MELA-AU 12 10374569 10374569 single base substitution C T downstream_gene_variant MELA-AU 12 10374620 10374620 single base substitution G A 3_prime_UTR_variant MELA-AU 12 10374620 10374620 single base substitution G A downstream_gene_variant MELA-AU 12 10375041 10375042 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 12 10375041 10375042 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 12 10375531 10375531 single base substitution C T 3_prime_UTR_variant MELA-AU 12 10375531 10375531 single base substitution C T downstream_gene_variant MELA-AU 12 10375560 10375560 single base substitution G A 3_prime_UTR_variant MELA-AU 12 10375560 10375560 single base substitution G A downstream_gene_variant MELA-AU 12 10376221 10376221 single base substitution G A downstream_gene_variant MELA-AU 12 10376237 10376237 single base substitution C T downstream_gene_variant MELA-AU 12 10376506 10376506 single base substitution G C downstream_gene_variant MELA-AU 12 10376623 10376623 single base substitution T A downstream_gene_variant MELA-AU 12 10376662 10376662 single base substitution G A downstream_gene_variant MELA-AU 12 10376702 10376702 single base substitution C T downstream_gene_variant MELA-AU 12 10376948 10376948 single base substitution G A downstream_gene_variant MELA-AU 12 10376972 10376972 single base substitution C T downstream_gene_variant MELA-AU 12 10377121 10377121 single base substitution C T downstream_gene_variant MELA-AU 12 10377360 10377360 single base substitution C T downstream_gene_variant MELA-AU 12 10378075 10378075 single base substitution A G downstream_gene_variant MELA-AU 12 10378254 10378254 single base substitution G A downstream_gene_variant MELA-AU 12 10378491 10378491 single base substitution C T downstream_gene_variant MELA-AU 12 10378603 10378603 single base substitution C T downstream_gene_variant MELA-AU 12 10378608 10378608 single base substitution C T downstream_gene_variant MELA-AU 12 10379123 10379123 single base substitution A G downstream_gene_variant MELA-AU 12 10379379 10379379 single base substitution C T downstream_gene_variant MELA-AU 12 10379454 10379454 single base substitution C T downstream_gene_variant MELA-AU 12 10379929 10379929 single base substitution T C downstream_gene_variant MELA-AU 12 10379983 10379983 single base substitution G A downstream_gene_variant MELA-AU 12 10380539 10380539 single base substitution C T downstream_gene_variant ORCA-IN 12 10369137 10369137 insertion of <=200bp - C downstream_gene_variant ORCA-IN 12 10369137 10369137 insertion of <=200bp - C intron_variant ORCA-IN 12 10378979 10378979 single base substitution G C downstream_gene_variant ORCA-IN 12 10379597 10379597 single base substitution G A downstream_gene_variant OV-AU 12 10360708 10360708 single base substitution C T upstream_gene_variant OV-AU 12 10362345 10362345 single base substitution A T upstream_gene_variant OV-AU 12 10368836 10368836 single base substitution G T downstream_gene_variant OV-AU 12 10368836 10368836 single base substitution G T intron_variant OV-AU 12 10369513 10369513 single base substitution G T downstream_gene_variant OV-AU 12 10369513 10369513 single base substitution G T intron_variant OV-AU 12 10375447 10375447 single base substitution G C 3_prime_UTR_variant OV-AU 12 10375447 10375447 single base substitution G C downstream_gene_variant OV-AU 12 10379548 10379548 single base substitution C T downstream_gene_variant PACA-AU 12 10361875 10361875 single base substitution T A upstream_gene_variant PACA-AU 12 10365314 10365314 single base substitution A C 5_prime_UTR_variant PACA-AU 12 10365314 10365314 single base substitution A C upstream_gene_variant PACA-AU 12 10368009 10368009 single base substitution G T downstream_gene_variant PACA-AU 12 10368009 10368009 single base substitution G T intron_variant PACA-AU 12 10370256 10370256 single base substitution C T downstream_gene_variant PACA-AU 12 10370256 10370256 single base substitution C T intron_variant PACA-AU 12 10373206 10373206 single base substitution C T 3_prime_UTR_variant PACA-AU 12 10373206 10373206 single base substitution C T downstream_gene_variant PACA-AU 12 10373206 10373206 single base substitution C T intron_variant PACA-AU 12 10373206 10373206 single base substitution C T missense_variant H113Y 337C>T PACA-AU 12 10375030 10375030 single base substitution T C 3_prime_UTR_variant PACA-AU 12 10375030 10375030 single base substitution T C downstream_gene_variant PACA-AU 12 10378759 10378759 single base substitution G A downstream_gene_variant PACA-AU 12 10379679 10379679 single base substitution G C downstream_gene_variant PACA-CA 12 10360315 10360315 single base substitution C T upstream_gene_variant PACA-CA 12 10361644 10361644 single base substitution G A upstream_gene_variant PACA-CA 12 10362172 10362172 single base substitution G T upstream_gene_variant PACA-CA 12 10364707 10364707 single base substitution A G upstream_gene_variant PACA-CA 12 10364933 10364933 single base substitution C G upstream_gene_variant PACA-CA 12 10365075 10365075 single base substitution G A 5_prime_UTR_variant PACA-CA 12 10365075 10365075 single base substitution G A upstream_gene_variant PACA-CA 12 10365257 10365257 deletion of <=200bp T - 5_prime_UTR_variant PACA-CA 12 10365257 10365257 deletion of <=200bp T - upstream_gene_variant PACA-CA 12 10368717 10368717 single base substitution C T downstream_gene_variant PACA-CA 12 10368717 10368717 single base substitution C T intron_variant PACA-CA 12 10369332 10369332 single base substitution T C downstream_gene_variant PACA-CA 12 10369332 10369332 single base substitution T C intron_variant PACA-CA 12 10370158 10370158 single base substitution G A downstream_gene_variant PACA-CA 12 10370158 10370158 single base substitution G A intron_variant PACA-CA 12 10370819 10370819 single base substitution G T downstream_gene_variant PACA-CA 12 10370819 10370819 single base substitution G T intron_variant PACA-CA 12 10371005 10371005 insertion of <=200bp - A downstream_gene_variant PACA-CA 12 10371005 10371005 insertion of <=200bp - A intron_variant PACA-CA 12 10371475 10371475 deletion of <=200bp T - downstream_gene_variant PACA-CA 12 10371475 10371475 deletion of <=200bp T - intron_variant PACA-CA 12 10371537 10371537 single base substitution C T downstream_gene_variant PACA-CA 12 10371537 10371537 single base substitution C T intron_variant PACA-CA 12 10373074 10373074 single base substitution C A 3_prime_UTR_variant PACA-CA 12 10373074 10373074 single base substitution C A 5_prime_UTR_variant PACA-CA 12 10373074 10373074 single base substitution C A exon_variant PACA-CA 12 10373074 10373074 single base substitution C A missense_variant H69N 205C>A PACA-CA 12 10374990 10374990 single base substitution A G 3_prime_UTR_variant PACA-CA 12 10374990 10374990 single base substitution A G downstream_gene_variant PACA-CA 12 10378306 10378306 single base substitution G A downstream_gene_variant PACA-CA 12 10379387 10379387 single base substitution G A downstream_gene_variant PACA-CA 12 10379638 10379638 single base substitution T C downstream_gene_variant PAEN-AU 12 10362669 10362669 single base substitution C T upstream_gene_variant PAEN-IT 12 10366880 10366880 single base substitution C G 3_prime_UTR_variant PAEN-IT 12 10366880 10366880 single base substitution C G downstream_gene_variant PAEN-IT 12 10366880 10366880 single base substitution C G intron_variant PRAD-CA 12 10379002 10379002 single base substitution T G downstream_gene_variant PRAD-UK 12 10360994 10360994 single base substitution G T upstream_gene_variant RECA-EU 12 10369138 10369138 single base substitution T C downstream_gene_variant RECA-EU 12 10369138 10369138 single base substitution T C intron_variant RECA-EU 12 10371560 10371560 single base substitution C G downstream_gene_variant RECA-EU 12 10371560 10371560 single base substitution C G intron_variant RECA-EU 12 10374231 10374231 single base substitution G T downstream_gene_variant RECA-EU 12 10374231 10374231 single base substitution G T intron_variant SKCA-BR 12 10361646 10361646 single base substitution G A upstream_gene_variant SKCA-BR 12 10361648 10361648 single base substitution G A upstream_gene_variant SKCA-BR 12 10362783 10362783 single base substitution C T upstream_gene_variant SKCA-BR 12 10363438 10363438 single base substitution T G upstream_gene_variant SKCA-BR 12 10365574 10365574 single base substitution C G 5_prime_UTR_variant SKCA-BR 12 10365574 10365574 single base substitution C G intron_variant SKCA-BR 12 10365574 10365574 single base substitution C G upstream_gene_variant SKCA-BR 12 10369613 10369613 single base substitution C T downstream_gene_variant SKCA-BR 12 10369613 10369613 single base substitution C T intron_variant SKCA-BR 12 10371126 10371126 single base substitution C T downstream_gene_variant SKCA-BR 12 10371126 10371126 single base substitution C T intron_variant SKCA-BR 12 10375548 10375548 single base substitution G A 3_prime_UTR_variant SKCA-BR 12 10375548 10375548 single base substitution G A downstream_gene_variant SKCA-BR 12 10376870 10376870 single base substitution C T downstream_gene_variant SKCA-BR 12 10378759 10378759 single base substitution G A downstream_gene_variant STAD-US 12 10370690 10370690 single base substitution G T 3_prime_UTR_variant STAD-US 12 10370690 10370690 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant STAD-US 12 10370690 10370690 single base substitution G T downstream_gene_variant STAD-US 12 10370690 10370690 single base substitution G T exon_variant STAD-US 12 10370690 10370690 single base substitution G T intron_variant STAD-US 12 10370690 10370690 single base substitution G T missense_variant R40M 119G>T STAD-US 12 10370695 10370695 single base substitution C T 3_prime_UTR_variant STAD-US 12 10370695 10370695 single base substitution C T 5_prime_UTR_variant STAD-US 12 10370695 10370695 single base substitution C T downstream_gene_variant STAD-US 12 10370695 10370695 single base substitution C T exon_variant STAD-US 12 10370695 10370695 single base substitution C T intron_variant STAD-US 12 10370695 10370695 single base substitution C T missense_variant P42S 124C>T STAD-US 12 10373115 10373115 single base substitution C T 3_prime_UTR_variant STAD-US 12 10373115 10373115 single base substitution C T 5_prime_UTR_variant STAD-US 12 10373115 10373115 single base substitution C T downstream_gene_variant STAD-US 12 10373115 10373115 single base substitution C T exon_variant STAD-US 12 10373115 10373115 single base substitution C T synonymous_variant N82N 246C>T STAD-US 12 10373153 10373153 single base substitution A G 3_prime_UTR_variant STAD-US 12 10373153 10373153 single base substitution A G downstream_gene_variant STAD-US 12 10373153 10373153 single base substitution A G missense_variant Y5C 14A>G STAD-US 12 10373153 10373153 single base substitution A G missense_variant Y95C 284A>G STAD-US 12 10374385 10374385 single base substitution G A downstream_gene_variant STAD-US 12 10374385 10374385 single base substitution G A splice_acceptor_variant STAD-US 12 10374410 10374410 single base substitution C A 3_prime_UTR_variant STAD-US 12 10374410 10374410 single base substitution C A downstream_gene_variant STAD-US 12 10374410 10374410 single base substitution C A missense_variant L105M 313C>A STAD-US 12 10374410 10374410 single base substitution C A missense_variant L15M 43C>A THCA-SA 12 10365574 10365574 single base substitution C G 5_prime_UTR_variant THCA-SA 12 10365574 10365574 single base substitution C G intron_variant THCA-SA 12 10365574 10365574 single base substitution C G upstream_gene_variant THCA-SA 12 10365670 10365670 single base substitution G C 5_prime_UTR_variant THCA-SA 12 10365670 10365670 single base substitution G C intron_variant THCA-SA 12 10365670 10365670 single base substitution G C upstream_gene_variant THCA-SA 12 10375435 10375435 single base substitution G T 3_prime_UTR_variant THCA-SA 12 10375435 10375435 single base substitution G T downstream_gene_variant UCEC-US 12 10373069 10373069 single base substitution G T 3_prime_UTR_variant UCEC-US 12 10373069 10373069 single base substitution G T 5_prime_UTR_variant UCEC-US 12 10373069 10373069 single base substitution G T exon_variant UCEC-US 12 10373069 10373069 single base substitution G T missense_variant R67I 200G>T UCEC-US 12 10373129 10373129 single base substitution C T 3_prime_UTR_variant UCEC-US 12 10373129 10373129 single base substitution C T 5_prime_UTR_variant UCEC-US 12 10373129 10373129 single base substitution C T downstream_gene_variant UCEC-US 12 10373129 10373129 single base substitution C T missense_variant T87I 260C>T UCEC-US 12 10374426 10374426 single base substitution G A 3_prime_UTR_variant UCEC-US 12 10374426 10374426 single base substitution G A downstream_gene_variant UCEC-US 12 10374426 10374426 single base substitution G A missense_variant S110N 329G>A UCEC-US 12 10374426 10374426 single base substitution G A missense_variant S20N 59G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand DLD1 COSM1676724 c.140G>T p.R47M Substitution - Missense 12:10218112-10218112 + LUAD-CHTN-Z4716A COSM361663 c.100G>A p.E34K Substitution - Missense 12:10218072-10218072 + HCT-15 COSM1676724 c.140G>T p.R47M Substitution - Missense 12:10218112-10218112 + ESCC_46 COSM5630483 c.354A>G p.*118W Nonstop extension 12:10221852-10221852 + Gp2D COSM2064044 c.133G>A p.D45N Substitution - Missense 12:10218105-10218105 + T3118 COSM4686063 c.176A>G p.Q59R Substitution - Missense 12:10220446-10220446 + TCGA-BR-8680-01 COSM4038120 c.313C>A p.L105M Substitution - Missense 12:10221811-10221811 + S01366 COSM5667964 c.90+1G>T p.? Unknown 12:10213220-10213220 + sysucc-311T COSM5477957 c.290A>G p.D97G Substitution - Missense 12:10221788-10221788 + TCGA-AP-A059-01 COSM934135 c.260C>T p.T87I Substitution - Missense 12:10220530-10220530 + TCGA-AX-A05Z-01 COSM934134 c.200G>T p.R67I Substitution - Missense 12:10220470-10220470 + TCGA-CG-5726-01 COSM4038118 c.284A>G p.Y95C Substitution - Missense 12:10220554-10220554 + TCGA-FP-A4BE-01 COSM4038115 c.119G>T p.R40M Substitution - Missense 12:10218091-10218091 + TCGA-AP-A059-01 COSM934136 c.329G>A p.S110N Substitution - Missense 12:10221827-10221827 + TCGA-BR-4201-01 COSM4038119 c.289-1G>A p.? Unknown 12:10221786-10221786 + TCGA-BR-4184-01 COSM4038116 c.124C>T p.P42S Substitution - Missense 12:10218096-10218096 + TCGA-A6-6780-01 COSM1358269 c.221A>G p.D74G Substitution - Missense 12:10220491-10220491 + T2269 COSM4686062 c.146A>G p.Y49C Substitution - Missense 12:10218118-10218118 + YULAPE COSM1705147 c.205C>T p.H69Y Substitution - Missense 12:10220475-10220475 + CSCC-31-T COSM4485993 c.29C>T p.P10L Substitution - Missense 12:10213158-10213158 + PCSI0048 COSM216236 c.205C>A p.H69N Substitution - Missense 12:10220475-10220475 + T368 COSM4686064 c.268A>G p.T90A Substitution - Missense 12:10220538-10220538 + T368 COSM4686065 c.308_309insT p.L105fs*7 Insertion - Frameshift 12:10221806-10221807 + Gp5D COSM2064044 c.133G>A p.D45N Substitution - Missense 12:10218105-10218105 + HCT15 COSM1676724 c.140G>T p.R47M Substitution - Missense 12:10218112-10218112 + sysucc-834T COSM5485538 c.15C>T p.Y5Y Substitution - coding silent 12:10213144-10213144 + TCGA-D7-8573-01 COSM4038117 c.246C>T p.N82N Substitution - coding silent 12:10220516-10220516 + PCSI_0048_Pa_P_526 COSM216236 c.205C>A p.H69N Substitution - Missense 12:10220475-10220475 + PCSI_0048_Pa_P COSM216236 c.205C>A p.H69N Substitution - Missense 12:10220475-10220475 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.524248;Hs.524250 12p13.2 607420

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.Y95C c.284A>G 12 10373153 STAD C A Missense p.H69N c.205C>A 12 10373074 PAAD C T IntronicSNV . c.169+14C>T 12 10370754 CM G A SpliceAcceptorSNV . c.289-1G>A 12 10374385 STAD G A Synonymous p.G116G c.348G>A 12 10374445 BRCA G C Missense p.V107L c.319G>C 12 10374416 CM G T Missense p.D102Y c.304G>T 12 10374401 LUAD