Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 12 6981672 6981672 + Missense_Mutation SNP C C A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 g.chr12:6981672C>A c.394G>T c.(394-396)Ggc>Tgc p.G132C BLCA 12 6981794 6981794 + Missense_Mutation SNP C C A TCGA-FD-A6TK-01A-42D-A339-08 TCGA-FD-A6TK-10A-21D-A339-08 g.chr12:6981794C>A c.272G>T c.(271-273)tGg>tTg p.W91L BLCA 12 6981840 6981840 + Missense_Mutation SNP C C T TCGA-K4-AAQO-01A-11D-A38G-08 TCGA-K4-AAQO-10A-01D-A38J-08 g.chr12:6981840C>T c.226G>A c.(226-228)Gat>Aat p.D76N BLCA 12 6981895 6981895 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 g.chr12:6981895G>C c.171C>G c.(169-171)atC>atG p.I57M BLCA 12 6981922 6981922 + Nonsense_Mutation SNP C C T TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr12:6981922C>T c.144G>A c.(142-144)tgG>tgA p.W48* BLCA 12 6981997 6981997 + Silent SNP G G C TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 g.chr12:6981997G>C c.69C>G c.(67-69)ctC>ctG p.L23L BRCA 12 6981575 6981575 + Missense_Mutation SNP G G C TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr12:6981575G>C c.491C>G c.(490-492)cCa>cGa p.P164R BRCA 12 6981614 6981615 + Frame_Shift_Ins INS - - G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 g.chr12:6981614_6981615insG c.451_452insC c.(451-453)cagfs p.Q151fs CESC 12 6981406 6981406 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 g.chr12:6981406C>G c.660G>C c.(658-660)agG>agC p.R220S CESC 12 6981681 6981681 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 g.chr12:6981681C>T c.385G>A c.(385-387)Gag>Aag p.E129K CESC 12 6981744 6981744 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 g.chr12:6981744C>T c.322G>A c.(322-324)Gtg>Atg p.V108M HNSC 12 6980429 6980429 + Missense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 g.chr12:6980429C>T c.719G>A c.(718-720)gGg>gAg p.G240E HNSC 12 6980443 6980444 + Frame_Shift_Del DEL CA CA - TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 g.chr12:6980443_6980444delCA c.704_705delTG c.(703-705)gtgfs p.V235fs HNSC 12 6980481 6980481 + Missense_Mutation SNP C C T TCGA-CN-6013-01A-11D-1683-08 TCGA-CN-6013-10A-01D-1683-08 g.chr12:6980481C>T c.667G>A c.(667-669)Gag>Aag p.E223K HNSC 12 6981424 6981424 + Silent SNP G G A TCGA-HD-7754-01A-11D-2078-08 TCGA-HD-7754-10A-01D-2078-08 g.chr12:6981424G>A c.642C>T c.(640-642)atC>atT p.I214I HNSC 12 6981568 6981569 + Frame_Shift_Del DEL TC TC - TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 g.chr12:6981568_6981569delTC c.497_498delGA c.(496-498)agafs p.R166fs KIPAN 12 6981774 6981774 + Nonsense_Mutation SNP C C A TCGA-EU-5907-01A-11D-1669-08 TCGA-EU-5907-10A-01D-1669-08 g.chr12:6981774C>A c.292G>T c.(292-294)Gag>Tag p.E98* KIRC 12 6981774 6981774 + Nonsense_Mutation SNP C C A TCGA-EU-5907-01A-11D-1669-08 TCGA-EU-5907-10A-01D-1669-08 g.chr12:6981774C>A c.292G>T c.(292-294)Gag>Tag p.E98* LIHC 12 6981831 6981831 + Missense_Mutation SNP G G A TCGA-DD-AACS-01A-11D-A40R-10 TCGA-DD-AACS-10A-01D-A40U-10 g.chr12:6981831G>A c.235C>T c.(235-237)Cgg>Tgg p.R79W LUAD 12 6981479 6981479 + Missense_Mutation SNP C C T TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr12:6981479C>T c.587G>A c.(586-588)gGc>gAc p.G196D LUAD 12 6981812 6981812 + Nonsense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 g.chr12:6981812G>T c.254C>A c.(253-255)tCa>tAa p.S85* PAAD 12 6981428 6981428 + Missense_Mutation SNP C C T TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 g.chr12:6981428C>T c.638G>A c.(637-639)cGc>cAc p.R213H

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 6981672 6981672 single base substitution C A downstream_gene_variant BLCA-US 12 6981672 6981672 single base substitution C A missense_variant G132C 394G>T BRCA-EU 12 6975346 6975346 single base substitution C T downstream_gene_variant BRCA-EU 12 6975416 6975416 single base substitution G A downstream_gene_variant BRCA-EU 12 6975453 6975453 single base substitution G C downstream_gene_variant BRCA-EU 12 6976142 6976142 single base substitution G A downstream_gene_variant BRCA-EU 12 6976405 6976405 single base substitution A C downstream_gene_variant BRCA-EU 12 6977211 6977211 single base substitution C T downstream_gene_variant BRCA-EU 12 6977812 6977812 single base substitution G T downstream_gene_variant BRCA-EU 12 6977841 6977841 single base substitution C T downstream_gene_variant BRCA-EU 12 6979508 6979508 single base substitution C T downstream_gene_variant BRCA-EU 12 6980394 6980398 deletion of <=200bp AGGGC - downstream_gene_variant BRCA-EU 12 6980394 6980398 deletion of <=200bp AGGGC - frameshift_variant LPL250 BRCA-EU 12 6980752 6980752 single base substitution G C downstream_gene_variant BRCA-EU 12 6980752 6980752 single base substitution G C intron_variant BRCA-EU 12 6981119 6981119 single base substitution T C 3_prime_UTR_variant BRCA-EU 12 6981119 6981119 single base substitution T C downstream_gene_variant BRCA-EU 12 6981119 6981119 single base substitution T C intron_variant BRCA-EU 12 6981291 6981291 single base substitution G C downstream_gene_variant BRCA-EU 12 6981291 6981291 single base substitution G C intron_variant BRCA-EU 12 6981291 6981291 single base substitution G C missense_variant Q259E 775C>G BRCA-EU 12 6981741 6981741 single base substitution C A downstream_gene_variant BRCA-EU 12 6981741 6981741 single base substitution C A missense_variant A109S 325G>T BRCA-EU 12 6982177 6982177 single base substitution C T downstream_gene_variant BRCA-EU 12 6982177 6982177 single base substitution C T intron_variant BRCA-EU 12 6984248 6984248 single base substitution G A downstream_gene_variant BRCA-EU 12 6984248 6984248 single base substitution G A intron_variant BRCA-EU 12 6984248 6984248 single base substitution G A upstream_gene_variant BRCA-EU 12 6985109 6985109 single base substitution C T intron_variant BRCA-EU 12 6985109 6985109 single base substitution C T upstream_gene_variant BRCA-EU 12 6985738 6985738 single base substitution G C intron_variant BRCA-EU 12 6985738 6985738 single base substitution G C upstream_gene_variant BRCA-EU 12 6986993 6986993 single base substitution G A intron_variant BRCA-EU 12 6986993 6986993 single base substitution G A upstream_gene_variant BRCA-EU 12 6989504 6989504 single base substitution C T intron_variant BRCA-EU 12 6990445 6990445 deletion of <=200bp A - intron_variant BRCA-EU 12 6990671 6990671 single base substitution A G intron_variant BRCA-EU 12 6991024 6991024 single base substitution C T intron_variant BRCA-EU 12 6992242 6992242 deletion of <=200bp A - intron_variant BRCA-EU 12 6992242 6992242 deletion of <=200bp A - upstream_gene_variant BRCA-EU 12 6992336 6992336 single base substitution C T intron_variant BRCA-EU 12 6992336 6992336 single base substitution C T upstream_gene_variant BRCA-EU 12 6992794 6992794 single base substitution G C intron_variant BRCA-EU 12 6992794 6992794 single base substitution G C upstream_gene_variant BRCA-EU 12 6994113 6994113 single base substitution C A intron_variant BRCA-EU 12 6994113 6994113 single base substitution C A upstream_gene_variant BRCA-EU 12 6995562 6995562 single base substitution C G intron_variant BRCA-EU 12 6995562 6995562 single base substitution C G upstream_gene_variant BRCA-EU 12 6995763 6995763 single base substitution G C intron_variant BRCA-EU 12 6995763 6995763 single base substitution G C upstream_gene_variant BRCA-EU 12 6997165 6997165 single base substitution A C intron_variant BRCA-EU 12 6997639 6997639 single base substitution T G intron_variant BRCA-EU 12 6997823 6997823 single base substitution A T intron_variant BRCA-EU 12 6997965 6997965 deletion of <=200bp T - intron_variant BRCA-EU 12 6999180 6999180 single base substitution G A upstream_gene_variant BRCA-EU 12 7000559 7000559 single base substitution C T upstream_gene_variant BRCA-EU 12 7000921 7000921 single base substitution G A upstream_gene_variant BRCA-EU 12 7001085 7001085 single base substitution T C upstream_gene_variant BRCA-EU 12 7001335 7001335 single base substitution G C upstream_gene_variant BRCA-EU 12 7002646 7002646 single base substitution C A upstream_gene_variant BRCA-EU 12 7003058 7003058 single base substitution C T upstream_gene_variant BRCA-FR 12 6976142 6976142 single base substitution G A downstream_gene_variant BRCA-FR 12 6981291 6981291 single base substitution G C downstream_gene_variant BRCA-FR 12 6981291 6981291 single base substitution G C intron_variant BRCA-FR 12 6981291 6981291 single base substitution G C missense_variant Q259E 775C>G BRCA-FR 12 6984248 6984248 single base substitution G A downstream_gene_variant BRCA-FR 12 6984248 6984248 single base substitution G A intron_variant BRCA-FR 12 6984248 6984248 single base substitution G A upstream_gene_variant BRCA-FR 12 6992336 6992336 single base substitution C T intron_variant BRCA-FR 12 6992336 6992336 single base substitution C T upstream_gene_variant BRCA-UK 12 6987388 6987388 single base substitution G A intron_variant BRCA-UK 12 6987388 6987388 single base substitution G A upstream_gene_variant BRCA-UK 12 6997639 6997639 single base substitution T G intron_variant BRCA-US 12 6976710 6976710 single base substitution C T downstream_gene_variant BRCA-US 12 6979278 6979278 single base substitution G A downstream_gene_variant BRCA-US 12 6979542 6979542 single base substitution C A downstream_gene_variant BRCA-US 12 6981575 6981575 single base substitution G C downstream_gene_variant BRCA-US 12 6981575 6981575 single base substitution G C missense_variant P164R 491C>G BRCA-US 12 6981614 6981614 insertion of <=200bp - G downstream_gene_variant BRCA-US 12 6981614 6981614 insertion of <=200bp - G frameshift_variant Q151H? BRCA-US 12 6993151 6993151 single base substitution G T intron_variant BRCA-US 12 6993151 6993151 single base substitution G T upstream_gene_variant BRCA-US 12 6993532 6993532 single base substitution C A intron_variant BRCA-US 12 6993532 6993532 single base substitution C A upstream_gene_variant BRCA-US 12 6993653 6993653 single base substitution G A intron_variant BRCA-US 12 6993653 6993653 single base substitution G A upstream_gene_variant BTCA-JP 12 6979844 6979844 single base substitution G A downstream_gene_variant BTCA-JP 12 6980333 6980333 single base substitution C A 3_prime_UTR_variant BTCA-JP 12 6980333 6980333 single base substitution C A downstream_gene_variant BTCA-JP 12 6981755 6981755 single base substitution G A downstream_gene_variant BTCA-JP 12 6981755 6981755 single base substitution G A missense_variant A104V 311C>T CESC-US 12 6976718 6976718 single base substitution C T downstream_gene_variant CESC-US 12 6981406 6981406 single base substitution C G downstream_gene_variant CESC-US 12 6981406 6981406 single base substitution C G missense_variant R220S 660G>C CESC-US 12 6981681 6981681 single base substitution C T downstream_gene_variant CESC-US 12 6981681 6981681 single base substitution C T missense_variant E129K 385G>A CESC-US 12 6981744 6981744 single base substitution C T downstream_gene_variant CESC-US 12 6981744 6981744 single base substitution C T missense_variant V108M 322G>A CESC-US 12 6993274 6993274 single base substitution C T intron_variant CESC-US 12 6993274 6993274 single base substitution C T upstream_gene_variant CESC-US 12 6993598 6993598 single base substitution G A intron_variant CESC-US 12 6993598 6993598 single base substitution G A upstream_gene_variant CLLE-ES 12 6991913 6991913 single base substitution A T intron_variant CLLE-ES 12 6991913 6991913 single base substitution A T upstream_gene_variant CLLE-ES 12 6996435 6996435 single base substitution A T intron_variant CLLE-ES 12 6996435 6996435 single base substitution A T upstream_gene_variant CLLE-ES 12 7001914 7001914 single base substitution A G upstream_gene_variant COAD-US 12 6976727 6976727 single base substitution C G downstream_gene_variant COCA-CN 12 6978542 6978542 single base substitution A C downstream_gene_variant COCA-CN 12 6981997 6981997 single base substitution G A downstream_gene_variant COCA-CN 12 6981997 6981997 single base substitution G A synonymous_variant L23L 69C>T COCA-CN 12 6993937 6993937 single base substitution G A intron_variant COCA-CN 12 6993937 6993937 single base substitution G A upstream_gene_variant COCA-CN 12 6994016 6994016 single base substitution A T intron_variant COCA-CN 12 6994016 6994016 single base substitution A T upstream_gene_variant COCA-CN 12 7003121 7003121 single base substitution A C upstream_gene_variant ESAD-UK 12 6975442 6975442 single base substitution G A downstream_gene_variant ESAD-UK 12 6976875 6976880 deletion of <=200bp GGGCCG - downstream_gene_variant ESAD-UK 12 6976999 6976999 single base substitution G A downstream_gene_variant ESAD-UK 12 6980578 6980578 single base substitution C T downstream_gene_variant ESAD-UK 12 6980578 6980578 single base substitution C T intron_variant ESAD-UK 12 6986227 6986227 single base substitution C G intron_variant ESAD-UK 12 6986227 6986227 single base substitution C G upstream_gene_variant ESAD-UK 12 6989583 6989583 single base substitution G A intron_variant ESAD-UK 12 6990871 6990871 insertion of <=200bp - A intron_variant ESAD-UK 12 6991679 6991679 single base substitution C T intron_variant ESAD-UK 12 6991679 6991679 single base substitution C T upstream_gene_variant ESAD-UK 12 6993046 6993046 single base substitution C T intron_variant ESAD-UK 12 6993046 6993046 single base substitution C T upstream_gene_variant ESAD-UK 12 6996014 6996014 single base substitution A T intron_variant ESAD-UK 12 6996014 6996014 single base substitution A T upstream_gene_variant ESAD-UK 12 6997368 6997368 single base substitution G T intron_variant ESAD-UK 12 6998134 6998134 single base substitution G T intron_variant ESAD-UK 12 6998536 6998536 single base substitution G A upstream_gene_variant ESAD-UK 12 6998632 6998632 single base substitution G T upstream_gene_variant ESAD-UK 12 7000288 7000288 single base substitution C G upstream_gene_variant ESAD-UK 12 7001382 7001382 single base substitution C T upstream_gene_variant ESAD-UK 12 7002649 7002649 insertion of <=200bp - AAT upstream_gene_variant ESAD-UK 12 7003034 7003034 single base substitution G C upstream_gene_variant ESCA-CN 12 6976742 6976742 single base substitution C T downstream_gene_variant KIRC-US 12 6978057 6978057 single base substitution A G downstream_gene_variant KIRC-US 12 6979622 6979622 single base substitution C T downstream_gene_variant KIRC-US 12 6981774 6981774 single base substitution C A downstream_gene_variant KIRC-US 12 6981774 6981774 single base substitution C A stop_gained E98* 292G>T KIRP-US 12 6976718 6976718 single base substitution C T downstream_gene_variant KIRP-US 12 6976722 6976722 single base substitution T C downstream_gene_variant LAML-KR 12 6979006 6979006 single base substitution A G downstream_gene_variant LAML-KR 12 6987092 6987092 single base substitution T C intron_variant LAML-KR 12 6987092 6987092 single base substitution T C upstream_gene_variant LAML-KR 12 6998264 6998264 single base substitution G T intron_variant LICA-CN 12 6975157 6975157 single base substitution C G downstream_gene_variant LICA-CN 12 6981938 6981938 single base substitution T A downstream_gene_variant LICA-CN 12 6981938 6981938 single base substitution T A missense_variant Q43L 128A>T LICA-FR 12 6976702 6976702 single base substitution C T downstream_gene_variant LICA-FR 12 7001217 7001217 single base substitution T C upstream_gene_variant LINC-JP 12 6978213 6978213 single base substitution A G downstream_gene_variant LINC-JP 12 6979669 6979669 single base substitution T G downstream_gene_variant LINC-JP 12 6980076 6980076 deletion of <=200bp A - downstream_gene_variant LINC-JP 12 6980839 6980839 single base substitution G A 3_prime_UTR_variant LINC-JP 12 6980839 6980839 single base substitution G A downstream_gene_variant LINC-JP 12 6980839 6980839 single base substitution G A intron_variant LINC-JP 12 6981277 6981281 deletion of <=200bp ACTGA - downstream_gene_variant LINC-JP 12 6981277 6981281 deletion of <=200bp ACTGA - frameshift_variant FS262 LINC-JP 12 6981277 6981281 deletion of <=200bp ACTGA - intron_variant LIRI-JP 12 6977651 6977651 single base substitution A G downstream_gene_variant LIRI-JP 12 6980607 6980607 single base substitution A G downstream_gene_variant LIRI-JP 12 6980607 6980607 single base substitution A G intron_variant LIRI-JP 12 6980919 6980919 single base substitution C A 3_prime_UTR_variant LIRI-JP 12 6980919 6980919 single base substitution C A downstream_gene_variant LIRI-JP 12 6980919 6980919 single base substitution C A intron_variant LIRI-JP 12 6986882 6986882 single base substitution C T intron_variant LIRI-JP 12 6986882 6986882 single base substitution C T upstream_gene_variant LIRI-JP 12 6991786 6991786 single base substitution A G intron_variant LIRI-JP 12 6991786 6991786 single base substitution A G upstream_gene_variant LIRI-JP 12 6994819 6994819 single base substitution C A intron_variant LIRI-JP 12 6994819 6994819 single base substitution C A upstream_gene_variant LIRI-JP 12 6996264 6996264 single base substitution G T intron_variant LIRI-JP 12 6996264 6996264 single base substitution G T upstream_gene_variant LIRI-JP 12 6998033 6998033 single base substitution C T intron_variant LIRI-JP 12 6998249 6998249 single base substitution T A intron_variant LIRI-JP 12 7000956 7000956 single base substitution G A upstream_gene_variant LIRI-JP 12 7001490 7001490 single base substitution G T upstream_gene_variant LUSC-KR 12 6975106 6975106 single base substitution G T downstream_gene_variant LUSC-KR 12 6975107 6975107 single base substitution C G downstream_gene_variant LUSC-KR 12 6975501 6975501 single base substitution G A downstream_gene_variant LUSC-KR 12 6976191 6976191 single base substitution T C downstream_gene_variant LUSC-KR 12 6977201 6977201 single base substitution G A downstream_gene_variant LUSC-KR 12 6979010 6979010 single base substitution G A downstream_gene_variant LUSC-KR 12 6979521 6979521 single base substitution G A downstream_gene_variant LUSC-KR 12 6980932 6980932 single base substitution G A 3_prime_UTR_variant LUSC-KR 12 6980932 6980932 single base substitution G A downstream_gene_variant LUSC-KR 12 6980932 6980932 single base substitution G A intron_variant LUSC-KR 12 6981732 6981732 single base substitution G T downstream_gene_variant LUSC-KR 12 6981732 6981732 single base substitution G T missense_variant L112I 334C>A LUSC-KR 12 6982477 6982477 single base substitution C A 5_prime_UTR_variant LUSC-KR 12 6982477 6982477 single base substitution C A downstream_gene_variant LUSC-KR 12 6982477 6982477 single base substitution C A intron_variant LUSC-KR 12 6982477 6982477 single base substitution C A upstream_gene_variant LUSC-KR 12 6984958 6984958 single base substitution T C exon_variant LUSC-KR 12 6984958 6984958 single base substitution T C intron_variant LUSC-KR 12 6984958 6984958 single base substitution T C upstream_gene_variant LUSC-KR 12 6987421 6987421 single base substitution G A intron_variant LUSC-KR 12 6987421 6987421 single base substitution G A upstream_gene_variant LUSC-KR 12 6987530 6987530 single base substitution A T intron_variant LUSC-KR 12 6993035 6993035 single base substitution A C intron_variant LUSC-KR 12 6993035 6993035 single base substitution A C upstream_gene_variant LUSC-KR 12 6994039 6994039 single base substitution T A intron_variant LUSC-KR 12 6994039 6994039 single base substitution T A upstream_gene_variant LUSC-KR 12 6994041 6994041 single base substitution G C intron_variant LUSC-KR 12 6994041 6994041 single base substitution G C upstream_gene_variant LUSC-US 12 6976808 6976808 single base substitution C T downstream_gene_variant LUSC-US 12 6978455 6978455 single base substitution G C downstream_gene_variant LUSC-US 12 6979288 6979288 single base substitution A G downstream_gene_variant LUSC-US 12 6979488 6979488 single base substitution C T downstream_gene_variant MALY-DE 12 6975423 6975423 single base substitution T C downstream_gene_variant MALY-DE 12 6975424 6975424 single base substitution C T downstream_gene_variant MALY-DE 12 6977515 6977515 single base substitution C T downstream_gene_variant MALY-DE 12 6982278 6982278 single base substitution C T downstream_gene_variant MALY-DE 12 6982278 6982278 single base substitution C T intron_variant MALY-DE 12 6987237 6987237 single base substitution C T intron_variant MALY-DE 12 6987237 6987237 single base substitution C T upstream_gene_variant MALY-DE 12 6989878 6989878 single base substitution G A intron_variant MALY-DE 12 6990296 6990296 single base substitution C T intron_variant MALY-DE 12 6997266 6997266 single base substitution G A intron_variant MALY-DE 12 6998908 6998908 single base substitution A C upstream_gene_variant MALY-DE 12 6999169 6999169 single base substitution G A upstream_gene_variant MALY-DE 12 6999520 6999520 single base substitution A T upstream_gene_variant MALY-DE 12 6999579 6999579 single base substitution C T upstream_gene_variant MELA-AU 12 6975134 6975134 single base substitution C T downstream_gene_variant MELA-AU 12 6975565 6975565 single base substitution C T downstream_gene_variant MELA-AU 12 6975852 6975852 single base substitution G A downstream_gene_variant MELA-AU 12 6976607 6976607 single base substitution G A downstream_gene_variant MELA-AU 12 6976940 6976940 single base substitution C G downstream_gene_variant MELA-AU 12 6977112 6977112 single base substitution C T downstream_gene_variant MELA-AU 12 6977522 6977522 single base substitution C T downstream_gene_variant MELA-AU 12 6977713 6977713 single base substitution C T downstream_gene_variant MELA-AU 12 6977861 6977861 single base substitution C T downstream_gene_variant MELA-AU 12 6979487 6979487 single base substitution C T downstream_gene_variant MELA-AU 12 6980838 6980838 single base substitution A T 3_prime_UTR_variant MELA-AU 12 6980838 6980838 single base substitution A T downstream_gene_variant MELA-AU 12 6980838 6980838 single base substitution A T intron_variant MELA-AU 12 6982158 6982158 single base substitution G A 5_prime_UTR_variant MELA-AU 12 6982158 6982158 single base substitution G A downstream_gene_variant MELA-AU 12 6982158 6982158 single base substitution G A splice_region_variant MELA-AU 12 6982636 6982636 single base substitution C T downstream_gene_variant MELA-AU 12 6982636 6982636 single base substitution C T intron_variant MELA-AU 12 6982636 6982636 single base substitution C T upstream_gene_variant MELA-AU 12 6982637 6982637 single base substitution C T downstream_gene_variant MELA-AU 12 6982637 6982637 single base substitution C T intron_variant MELA-AU 12 6982637 6982637 single base substitution C T upstream_gene_variant MELA-AU 12 6983253 6983253 single base substitution G A downstream_gene_variant MELA-AU 12 6983253 6983253 single base substitution G A intron_variant MELA-AU 12 6983253 6983253 single base substitution G A upstream_gene_variant MELA-AU 12 6984261 6984261 single base substitution A G downstream_gene_variant MELA-AU 12 6984261 6984261 single base substitution A G intron_variant MELA-AU 12 6984261 6984261 single base substitution A G upstream_gene_variant MELA-AU 12 6985100 6985100 single base substitution G A intron_variant MELA-AU 12 6985100 6985100 single base substitution G A upstream_gene_variant MELA-AU 12 6985228 6985228 single base substitution C T intron_variant MELA-AU 12 6985228 6985228 single base substitution C T upstream_gene_variant MELA-AU 12 6985776 6985776 single base substitution C T intron_variant MELA-AU 12 6985776 6985776 single base substitution C T upstream_gene_variant MELA-AU 12 6985846 6985846 single base substitution C T intron_variant MELA-AU 12 6985846 6985846 single base substitution C T upstream_gene_variant MELA-AU 12 6986737 6986737 single base substitution C T 5_prime_UTR_variant MELA-AU 12 6986737 6986737 single base substitution C T exon_variant MELA-AU 12 6986737 6986737 single base substitution C T upstream_gene_variant MELA-AU 12 6987136 6987137 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 12 6987136 6987137 multiple base substitution (>=2bp and <=200bp) GT AA upstream_gene_variant MELA-AU 12 6987196 6987196 single base substitution T C intron_variant MELA-AU 12 6987196 6987196 single base substitution T C upstream_gene_variant MELA-AU 12 6987393 6987393 single base substitution C T intron_variant MELA-AU 12 6987393 6987393 single base substitution C T upstream_gene_variant MELA-AU 12 6987481 6987481 single base substitution C T intron_variant MELA-AU 12 6987481 6987481 single base substitution C T upstream_gene_variant MELA-AU 12 6987495 6987495 single base substitution C A intron_variant MELA-AU 12 6987495 6987495 single base substitution C A upstream_gene_variant MELA-AU 12 6987594 6987594 single base substitution C T intron_variant MELA-AU 12 6987600 6987600 single base substitution C T intron_variant MELA-AU 12 6988593 6988593 single base substitution C T intron_variant MELA-AU 12 6989473 6989473 single base substitution C T intron_variant MELA-AU 12 6990112 6990112 single base substitution C T intron_variant MELA-AU 12 6990286 6990286 single base substitution G A intron_variant MELA-AU 12 6990360 6990360 single base substitution G A intron_variant MELA-AU 12 6991236 6991236 single base substitution C T intron_variant MELA-AU 12 6991274 6991274 single base substitution C T intron_variant MELA-AU 12 6991501 6991501 single base substitution C T intron_variant MELA-AU 12 6991501 6991501 single base substitution C T upstream_gene_variant MELA-AU 12 6991772 6991772 single base substitution T A intron_variant MELA-AU 12 6991772 6991772 single base substitution T A upstream_gene_variant MELA-AU 12 6992314 6992314 single base substitution G A intron_variant MELA-AU 12 6992314 6992314 single base substitution G A upstream_gene_variant MELA-AU 12 6992925 6992925 single base substitution G A intron_variant MELA-AU 12 6992925 6992925 single base substitution G A upstream_gene_variant MELA-AU 12 6993314 6993314 single base substitution C T intron_variant MELA-AU 12 6993314 6993314 single base substitution C T upstream_gene_variant MELA-AU 12 6993577 6993577 single base substitution A G intron_variant MELA-AU 12 6993577 6993577 single base substitution A G upstream_gene_variant MELA-AU 12 6993661 6993661 single base substitution G A intron_variant MELA-AU 12 6993661 6993661 single base substitution G A upstream_gene_variant MELA-AU 12 6993791 6993791 single base substitution C T intron_variant MELA-AU 12 6993791 6993791 single base substitution C T upstream_gene_variant MELA-AU 12 6993890 6993890 single base substitution G A intron_variant MELA-AU 12 6993890 6993890 single base substitution G A upstream_gene_variant MELA-AU 12 6994263 6994263 single base substitution C T intron_variant MELA-AU 12 6994263 6994263 single base substitution C T upstream_gene_variant MELA-AU 12 6994359 6994359 single base substitution C T intron_variant MELA-AU 12 6994359 6994359 single base substitution C T upstream_gene_variant MELA-AU 12 6994606 6994606 single base substitution C T intron_variant MELA-AU 12 6994606 6994606 single base substitution C T upstream_gene_variant MELA-AU 12 6994856 6994856 single base substitution C T intron_variant MELA-AU 12 6994856 6994856 single base substitution C T upstream_gene_variant MELA-AU 12 6995980 6995980 single base substitution C T intron_variant MELA-AU 12 6995980 6995980 single base substitution C T upstream_gene_variant MELA-AU 12 6996306 6996306 single base substitution C T intron_variant MELA-AU 12 6996306 6996306 single base substitution C T upstream_gene_variant MELA-AU 12 6996380 6996380 single base substitution C T intron_variant MELA-AU 12 6996380 6996380 single base substitution C T upstream_gene_variant MELA-AU 12 6996489 6996489 single base substitution C T intron_variant MELA-AU 12 6997291 6997291 single base substitution G A intron_variant MELA-AU 12 6998045 6998045 single base substitution G A intron_variant MELA-AU 12 6998625 6998626 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 12 6999536 6999536 single base substitution C T upstream_gene_variant MELA-AU 12 7001231 7001231 single base substitution C T upstream_gene_variant MELA-AU 12 7002036 7002036 single base substitution G A upstream_gene_variant MELA-AU 12 7002974 7002974 single base substitution C T upstream_gene_variant MELA-AU 12 7003145 7003145 single base substitution C T upstream_gene_variant MELA-AU 12 7003386 7003386 single base substitution G A upstream_gene_variant OV-AU 12 6978630 6978630 single base substitution C T downstream_gene_variant OV-AU 12 6982529 6982529 single base substitution C G downstream_gene_variant OV-AU 12 6982529 6982529 single base substitution C G intron_variant OV-AU 12 6982529 6982529 single base substitution C G upstream_gene_variant OV-AU 12 6982539 6982539 single base substitution C T downstream_gene_variant OV-AU 12 6982539 6982539 single base substitution C T intron_variant OV-AU 12 6982539 6982539 single base substitution C T upstream_gene_variant OV-AU 12 6992978 6992978 single base substitution A C intron_variant OV-AU 12 6992978 6992978 single base substitution A C upstream_gene_variant OV-AU 12 6997270 6997270 single base substitution A G intron_variant OV-AU 12 6997695 6997695 single base substitution A G intron_variant PACA-AU 12 6981745 6981745 single base substitution G A downstream_gene_variant PACA-AU 12 6981745 6981745 single base substitution G A synonymous_variant G107G 321C>T PACA-AU 12 6985485 6985485 single base substitution C A intron_variant PACA-AU 12 6985485 6985485 single base substitution C A upstream_gene_variant PACA-AU 12 6996347 6996347 single base substitution A T intron_variant PACA-AU 12 6996347 6996347 single base substitution A T upstream_gene_variant PACA-AU 12 6997270 6997270 single base substitution A G intron_variant PACA-AU 12 7000280 7000280 single base substitution G T upstream_gene_variant PACA-AU 12 7000283 7000283 single base substitution T C upstream_gene_variant PACA-CA 12 6980266 6980266 single base substitution A G 3_prime_UTR_variant PACA-CA 12 6980266 6980266 single base substitution A G downstream_gene_variant PACA-CA 12 6980289 6980289 single base substitution G A 3_prime_UTR_variant PACA-CA 12 6980289 6980289 single base substitution G A downstream_gene_variant PACA-CA 12 6982790 6982790 single base substitution A G downstream_gene_variant PACA-CA 12 6982790 6982790 single base substitution A G intron_variant PACA-CA 12 6982790 6982790 single base substitution A G upstream_gene_variant PACA-CA 12 6983646 6983646 single base substitution A G downstream_gene_variant PACA-CA 12 6983646 6983646 single base substitution A G intron_variant PACA-CA 12 6983646 6983646 single base substitution A G upstream_gene_variant PACA-CA 12 6990784 6990784 single base substitution T C intron_variant PACA-CA 12 6991961 6991961 single base substitution A G intron_variant PACA-CA 12 6991961 6991961 single base substitution A G upstream_gene_variant PACA-CA 12 6994462 6994462 single base substitution A C intron_variant PACA-CA 12 6994462 6994462 single base substitution A C upstream_gene_variant PACA-CA 12 6996014 6996014 single base substitution A T intron_variant PACA-CA 12 6996014 6996014 single base substitution A T upstream_gene_variant PACA-CA 12 7001076 7001076 single base substitution G A upstream_gene_variant PAEN-AU 12 6987041 6987041 single base substitution T G intron_variant PAEN-AU 12 6987041 6987041 single base substitution T G upstream_gene_variant PAEN-IT 12 6991280 6991280 single base substitution C T intron_variant PBCA-DE 12 6977736 6977736 single base substitution G C downstream_gene_variant PBCA-DE 12 6981226 6981226 single base substitution C T 3_prime_UTR_variant PBCA-DE 12 6981226 6981226 single base substitution C T downstream_gene_variant PBCA-DE 12 6981226 6981226 single base substitution C T intron_variant PBCA-DE 12 6985749 6985749 single base substitution G A intron_variant PBCA-DE 12 6985749 6985749 single base substitution G A upstream_gene_variant PBCA-DE 12 6996207 6996207 single base substitution G A intron_variant PBCA-DE 12 6996207 6996207 single base substitution G A upstream_gene_variant PBCA-DE 12 6997266 6997266 single base substitution G A intron_variant PBCA-DE 12 6999879 6999879 single base substitution G A upstream_gene_variant PRAD-CA 12 6980276 6980276 single base substitution C T 3_prime_UTR_variant PRAD-CA 12 6980276 6980276 single base substitution C T downstream_gene_variant RECA-EU 12 6978000 6978000 single base substitution T C downstream_gene_variant RECA-EU 12 6980724 6980724 single base substitution T G downstream_gene_variant RECA-EU 12 6980724 6980724 single base substitution T G intron_variant RECA-EU 12 6981194 6981194 single base substitution G C 3_prime_UTR_variant RECA-EU 12 6981194 6981194 single base substitution G C downstream_gene_variant RECA-EU 12 6981194 6981194 single base substitution G C intron_variant RECA-EU 12 6987027 6987027 single base substitution G A intron_variant RECA-EU 12 6987027 6987027 single base substitution G A upstream_gene_variant RECA-EU 12 6995064 6995064 single base substitution C T intron_variant RECA-EU 12 6995064 6995064 single base substitution C T upstream_gene_variant RECA-EU 12 6999987 6999987 single base substitution A G upstream_gene_variant SKCA-BR 12 6975604 6975604 single base substitution C T downstream_gene_variant SKCA-BR 12 6978441 6978441 single base substitution C T downstream_gene_variant SKCA-BR 12 6982452 6982452 single base substitution G A 5_prime_UTR_variant SKCA-BR 12 6982452 6982452 single base substitution G A downstream_gene_variant SKCA-BR 12 6982452 6982452 single base substitution G A intron_variant SKCA-BR 12 6982452 6982452 single base substitution G A upstream_gene_variant SKCA-BR 12 6984121 6984121 single base substitution T A downstream_gene_variant SKCA-BR 12 6984121 6984121 single base substitution T A intron_variant SKCA-BR 12 6984121 6984121 single base substitution T A upstream_gene_variant SKCA-BR 12 6987158 6987158 single base substitution C T intron_variant SKCA-BR 12 6987158 6987158 single base substitution C T upstream_gene_variant SKCA-BR 12 6988614 6988614 single base substitution A C intron_variant SKCA-BR 12 6990138 6990140 deletion of <=200bp TTA - intron_variant SKCA-BR 12 6991263 6991263 single base substitution C T intron_variant SKCA-BR 12 6992051 6992052 deletion of <=200bp GA - intron_variant SKCA-BR 12 6992051 6992052 deletion of <=200bp GA - upstream_gene_variant SKCA-BR 12 6993766 6993766 insertion of <=200bp - TA intron_variant SKCA-BR 12 6993766 6993766 insertion of <=200bp - TA upstream_gene_variant SKCA-BR 12 6993779 6993779 insertion of <=200bp - AAAC intron_variant SKCA-BR 12 6993779 6993779 insertion of <=200bp - AAAC upstream_gene_variant SKCA-BR 12 6996337 6996337 insertion of <=200bp - CA intron_variant SKCA-BR 12 6996337 6996337 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 12 7000541 7000541 single base substitution T C upstream_gene_variant SKCA-BR 12 7001232 7001232 insertion of <=200bp - CT upstream_gene_variant SKCM-US 12 6975183 6975183 single base substitution C T downstream_gene_variant SKCM-US 12 6975226 6975226 single base substitution G A downstream_gene_variant SKCM-US 12 6978873 6978873 single base substitution A C downstream_gene_variant STAD-US 12 6975193 6975193 single base substitution G A downstream_gene_variant STAD-US 12 6978878 6978878 single base substitution G A downstream_gene_variant STAD-US 12 6981674 6981674 single base substitution C T downstream_gene_variant STAD-US 12 6981674 6981674 single base substitution C T stop_gained W131* 392G>A STAD-US 12 6981914 6981914 single base substitution T C downstream_gene_variant STAD-US 12 6981914 6981914 single base substitution T C missense_variant K51R 152A>G STAD-US 12 6981956 6981956 deletion of <=200bp G - downstream_gene_variant STAD-US 12 6981956 6981956 deletion of <=200bp G - frameshift_variant P37 THCA-SA 12 6976685 6976685 single base substitution G A downstream_gene_variant THCA-SA 12 6976688 6976688 single base substitution A G downstream_gene_variant THCA-SA 12 6979728 6979728 single base substitution C T downstream_gene_variant THCA-SA 12 6981016 6981016 single base substitution G A 3_prime_UTR_variant THCA-SA 12 6981016 6981016 single base substitution G A downstream_gene_variant THCA-SA 12 6981016 6981016 single base substitution G A intron_variant THCA-SA 12 6981673 6981673 single base substitution C A downstream_gene_variant THCA-SA 12 6981673 6981673 single base substitution C A missense_variant W131C 393G>T THCA-SA 12 6993285 6993285 single base substitution G A intron_variant THCA-SA 12 6993285 6993285 single base substitution G A upstream_gene_variant UCEC-US 12 6978336 6978336 single base substitution G A downstream_gene_variant UCEC-US 12 6978532 6978532 single base substitution C T downstream_gene_variant UCEC-US 12 6978921 6978921 single base substitution C A downstream_gene_variant UCEC-US 12 6980375 6980375 single base substitution C T downstream_gene_variant UCEC-US 12 6980375 6980375 single base substitution C T missense_variant R258H 773G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand T3603 COSM4729738 c.772C>T p.R258C Substitution - Missense 12:6871212-6871212 - MO_1262 COSM5556060 c.240T>C p.G80G Substitution - coding silent 12:6872662-6872662 - SNU-175 COSM4210809 c.568G>T p.A190S Substitution - Missense 12:6872334-6872334 - TCGA-BR-6452-01 COSM4044510 c.152A>G p.K51R Substitution - Missense 12:6872750-6872750 - TCGA-EK-A2PG-01 COSM4819451 c.322G>A p.V108M Substitution - Missense 12:6872580-6872580 - SNU-C4 COSM4652332 c.648C>T p.Y216Y Substitution - coding silent 12:6872254-6872254 - CHEWS033 COSM4575699 c.489G>A p.V163V Substitution - coding silent 12:6872413-6872413 - YUKIL COSM1705001 c.527G>A p.G176E Substitution - Missense 12:6872375-6872375 - 1604875 COSM141367 c.181G>A p.E61K Substitution - Missense 12:6872721-6872721 - SJACT007_D COSM4968088 c.72C>A p.S24S Substitution - coding silent 12:6872830-6872830 - ESO-2472 COSM1266698 c.409C>T p.R137W Substitution - Missense 12:6872493-6872493 - T3048 COSM4729740 c.289C>T p.L97L Substitution - coding silent 12:6872613-6872613 - PD2145a COSM30517 c.707G>A p.R236H Substitution - Missense 12:6871277-6871277 - TCGA-IR-A3LI-01 COSM4845982 c.385G>A p.E129K Substitution - Missense 12:6872517-6872517 - ESCC_26 COSM5627048 c.766A>T p.M256L Substitution - Missense 12:6871218-6871218 - TCGA-B5-A11H-01 COSM943004 c.773G>A p.R258H Substitution - Missense 12:6871211-6871211 - HCC060T COSM5818063 c.128A>T p.Q43L Substitution - Missense 12:6872774-6872774 - TCGA-DS-A1OD-01 COSM1293498 c.321C>T p.G107G Substitution - coding silent 12:6872581-6872581 - 18 COSM5012488 c.248G>C p.G83A Substitution - Missense 12:6872654-6872654 - 8044460 COSM1293498 c.321C>T p.G107G Substitution - coding silent 12:6872581-6872581 - CSCC-44-T COSM4547710 c.429G>C p.Q143H Substitution - Missense 12:6872473-6872473 - T3049 COSM4729739 c.389C>T p.S130L Substitution - Missense 12:6872513-6872513 - S02296 COSM4547710 c.429G>C p.Q143H Substitution - Missense 12:6872473-6872473 - TCGA-EU-5907-01 COSM468848 c.292G>T p.E98* Substitution - Nonsense 12:6872610-6872610 - PTC_435 COSM5957245 c.393G>T p.W131C Substitution - Missense 12:6872509-6872509 - GC_356T-GC_356N COSM4774627 c.437G>A p.G146E Substitution - Missense 12:6872465-6872465 - J30_T COSM3955100 c.334C>A p.L112I Substitution - Missense 12:6872568-6872568 - ESO-0115 COSM1266697 c.233C>T p.A78V Substitution - Missense 12:6872669-6872669 - TCGA-EW-A1IZ-01 COSM1476877 c.451_452insC p.Q151fs*9 Insertion - Frameshift 12:6872450-6872451 - T3557 COSM30517 c.707G>A p.R236H Substitution - Missense 12:6871277-6871277 - BD183T COSM5508130 c.311C>T p.A104V Substitution - Missense 12:6872591-6872591 - TCGA-DK-A3IK-01 COSM1299830 c.394G>T p.G132C Substitution - Missense 12:6872508-6872508 - TCGA-EK-A2PG-01 COSM4819219 c.660G>C p.R220S Substitution - Missense 12:6872242-6872242 - TCGA-BR-4256-01 COSM4044509 c.392G>A p.W131* Substitution - Nonsense 12:6872510-6872510 - T15 COSM5342207 c.582G>A p.L194L Substitution - coding silent 12:6872320-6872320 - 66 COSM30517 c.707G>A p.R236H Substitution - Missense 12:6871277-6871277 - PD5950a COSM5785430 c.325G>T p.A109S Substitution - Missense 12:6872577-6872577 - TCGA-A2-A0T5-01 COSM3812901 c.491C>G p.P164R Substitution - Missense 12:6872411-6872411 - SH-3000 COSM5018026 c.393G>A p.W131* Substitution - Nonsense 12:6872509-6872509 - RMS105_ COSM4986347 c.286C>A p.P96T Substitution - Missense 12:6872616-6872616 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.479853;Hs.479856 12p13.31 611658

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer CA - Frameshift p.V235Afs*31 c.704_705delTG 12 6980443 HNSC C A IntronicSNV . c.665-436G>T 12 6980919 HC C A Missense p.G132C c.394G>T 12 6981672 BLCA C A Nonsense p.E98* c.292G>T 12 6981774 RCCC C T Missense p.E223K c.667G>A 12 6980481 HNSC C T Missense p.G179S c.535G>A 12 6981531 STAD C T Missense p.G196D c.587G>A 12 6981479 LUAD C T Missense p.G240E c.719G>A 12 6980429 HNSC C T Missense p.R258H c.773G>A 12 6980375 UCEC C T Nonsense p.W131* c.392G>A 12 6981674 STAD G A Missense p.A255V c.764C>T 12 6980384 CM G A Missense p.A78V c.233C>T 12 6981833 ESCA G A Missense p.R137W c.409C>T 12 6981657 ESCA G A Synonymous p.I214I c.642C>T 12 6981424 HNSC G T Nonsense p.S85* c.254C>A 12 6981812 LUAD TC - Frameshift p.R166Tfs*100 c.497_498delGA 12 6981568 HNSC