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 13 76124114 76124114 + Silent SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 g.chr13:76124114C>T c.45C>T c.(43-45)gtC>gtT p.V15V BLCA 13 76140943 76140943 + Missense_Mutation SNP G G C TCGA-4Z-AA7W-01A-11D-A391-08 TCGA-4Z-AA7W-10A-01D-A394-08 g.chr13:76140943G>C c.296G>C c.(295-297)gGa>gCa p.G99A BLCA 13 76141411 76141411 + Missense_Mutation SNP G G T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 g.chr13:76141411G>T c.389G>T c.(388-390)aGc>aTc p.S130I BLCA 13 76141429 76141429 + Missense_Mutation SNP G G A TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr13:76141429G>A c.407G>A c.(406-408)aGa>aAa p.R136K BRCA 13 76141383 76141383 + Missense_Mutation SNP A A G TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 g.chr13:76141383A>G c.361A>G c.(361-363)Aaa>Gaa p.K121E BRCA 13 76141388 76141388 + Missense_Mutation SNP C C A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr13:76141388C>A c.366C>A c.(364-366)ttC>ttA p.F122L COAD 13 76179901 76179901 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr13:76179901G>A c.646G>A c.(646-648)Gac>Aac p.D216N COADREAD 13 76141439 76141439 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr13:76141439G>T c.417G>T c.(415-417)gaG>gaT p.E139D COADREAD 13 76179901 76179901 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr13:76179901G>A c.646G>A c.(646-648)Gac>Aac p.D216N ESCA 13 76179918 76179918 + Silent SNP A A G TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 g.chr13:76179918A>G c.663A>G c.(661-663)agA>agG p.R221R GBM 13 76134909 76134909 + Silent SNP A A T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 g.chr13:76134909A>T c.75A>T c.(73-75)ctA>ctT p.L25L GBMLGG 13 76134909 76134909 + Silent SNP A A T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 g.chr13:76134909A>T c.75A>T c.(73-75)ctA>ctT p.L25L GBMLGG 13 76169105 76169105 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:76169105G>T c.529G>T c.(529-531)Gat>Tat p.D177Y HNSC 13 76134943 76134943 + Missense_Mutation SNP A A G TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 g.chr13:76134943A>G c.109A>G c.(109-111)Atg>Gtg p.M37V KIPAN 13 76140954 76140954 + Missense_Mutation SNP G G A TCGA-B0-5106-01A-01D-1421-08 TCGA-B0-5106-11A-01D-1421-08 g.chr13:76140954G>A c.307G>A c.(307-309)Gct>Act p.A103T KIRC 13 76140954 76140954 + Missense_Mutation SNP G G A TCGA-B0-5106-01A-01D-1421-08 TCGA-B0-5106-11A-01D-1421-08 g.chr13:76140954G>A c.307G>A c.(307-309)Gct>Act p.A103T LGG 13 76169105 76169105 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:76169105G>T c.529G>T c.(529-531)Gat>Tat p.D177Y LIHC 13 76135000 76135000 + Missense_Mutation SNP T T C TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr13:76135000T>C c.166T>C c.(166-168)Ttt>Ctt p.F56L LIHC 13 76140947 76140947 + Silent SNP G G A TCGA-CC-A3M9-01A-11D-A20W-10 TCGA-CC-A3M9-10A-01D-A20W-10 g.chr13:76140947G>A c.300G>A c.(298-300)ctG>ctA p.L100L LIHC 13 76143594 76143594 + Splice_Site SNP A A G TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr13:76143594A>G c.e6-1 LUAD 13 76135013 76135013 + Missense_Mutation SNP A A G TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr13:76135013A>G c.179A>G c.(178-180)gAa>gGa p.E60G LUSC 13 76179926 76179926 + Missense_Mutation SNP C C T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 g.chr13:76179926C>T c.671C>T c.(670-672)gCg>gTg p.A224V READ 13 76141439 76141439 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr13:76141439G>T c.417G>T c.(415-417)gaG>gaT p.E139D SKCM 13 76134927 76134927 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr13:76134927C>T c.93C>T c.(91-93)ttC>ttT p.F31F SKCM 13 76169099 76169099 + Missense_Mutation SNP C C T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 g.chr13:76169099C>T c.523C>T c.(523-525)Cat>Tat p.H175Y SKCM 13 76169099 76169099 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr13:76169099C>T c.523C>T c.(523-525)Cat>Tat p.H175Y

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 13 76124114 76124114 single base substitution C T splice_region_variant BRCA-EU 13 76119210 76119210 single base substitution T G upstream_gene_variant BRCA-EU 13 76120452 76120452 single base substitution C G upstream_gene_variant BRCA-EU 13 76120486 76120486 single base substitution A T upstream_gene_variant BRCA-EU 13 76123283 76123283 single base substitution C G upstream_gene_variant BRCA-EU 13 76127715 76127715 single base substitution G A intron_variant BRCA-EU 13 76128390 76128390 single base substitution A T intron_variant BRCA-EU 13 76133456 76133456 single base substitution G A intron_variant BRCA-EU 13 76133778 76133778 single base substitution C T intron_variant BRCA-EU 13 76135575 76135575 deletion of <=200bp A - intron_variant BRCA-EU 13 76138522 76138522 single base substitution G C intron_variant BRCA-EU 13 76138522 76138522 single base substitution G C upstream_gene_variant BRCA-EU 13 76139396 76139396 single base substitution C T intron_variant BRCA-EU 13 76139396 76139396 single base substitution C T upstream_gene_variant BRCA-EU 13 76140286 76140287 deletion of <=200bp TT - intron_variant BRCA-EU 13 76140286 76140287 deletion of <=200bp TT - upstream_gene_variant BRCA-EU 13 76144538 76144538 single base substitution A T intron_variant BRCA-EU 13 76146274 76146274 single base substitution C G intron_variant BRCA-EU 13 76146348 76146348 single base substitution C G intron_variant BRCA-EU 13 76146499 76146499 deletion of <=200bp T - intron_variant BRCA-EU 13 76146630 76146630 single base substitution T A intron_variant BRCA-EU 13 76146770 76146770 single base substitution C T intron_variant BRCA-EU 13 76148205 76148205 single base substitution C A intron_variant BRCA-EU 13 76148427 76148427 single base substitution T A intron_variant BRCA-EU 13 76150331 76150331 single base substitution C A intron_variant BRCA-EU 13 76151223 76151223 insertion of <=200bp - A intron_variant BRCA-EU 13 76152306 76152306 deletion of <=200bp T - intron_variant BRCA-EU 13 76153017 76153017 single base substitution T C intron_variant BRCA-EU 13 76154226 76154226 single base substitution C A intron_variant BRCA-EU 13 76155043 76155044 deletion of <=200bp TC - intron_variant BRCA-EU 13 76158043 76158043 single base substitution G A intron_variant BRCA-EU 13 76158148 76158148 single base substitution G A intron_variant BRCA-EU 13 76158681 76158681 single base substitution G A intron_variant BRCA-EU 13 76160085 76160085 single base substitution G C intron_variant BRCA-EU 13 76160212 76160212 single base substitution A G intron_variant BRCA-EU 13 76160461 76160461 single base substitution G A intron_variant BRCA-EU 13 76160659 76160659 single base substitution G A intron_variant BRCA-EU 13 76161032 76161032 single base substitution A C intron_variant BRCA-EU 13 76161050 76161053 deletion of <=200bp AAAC - intron_variant BRCA-EU 13 76161458 76161458 single base substitution C T intron_variant BRCA-EU 13 76162406 76162406 single base substitution A T intron_variant BRCA-EU 13 76163458 76163458 deletion of <=200bp A - intron_variant BRCA-EU 13 76165595 76165595 single base substitution C G intron_variant BRCA-EU 13 76165720 76165720 single base substitution A G intron_variant BRCA-EU 13 76167062 76167062 single base substitution G T intron_variant BRCA-EU 13 76170390 76170390 single base substitution A C downstream_gene_variant BRCA-EU 13 76170390 76170390 single base substitution A C intron_variant BRCA-EU 13 76176033 76176033 single base substitution C T intron_variant BRCA-EU 13 76176033 76176033 single base substitution C T upstream_gene_variant BRCA-EU 13 76176637 76176637 single base substitution G C intron_variant BRCA-EU 13 76176637 76176637 single base substitution G C upstream_gene_variant BRCA-EU 13 76177511 76177511 single base substitution G T intron_variant BRCA-EU 13 76177511 76177511 single base substitution G T upstream_gene_variant BRCA-EU 13 76182349 76182349 single base substitution C T downstream_gene_variant BRCA-EU 13 76183223 76183225 deletion of <=200bp AAG - downstream_gene_variant BRCA-FR 13 76148427 76148427 single base substitution T A intron_variant BRCA-FR 13 76150331 76150331 single base substitution C A intron_variant BRCA-FR 13 76160461 76160461 single base substitution G A intron_variant BRCA-FR 13 76174078 76174078 single base substitution A G downstream_gene_variant BRCA-FR 13 76174078 76174078 single base substitution A G intron_variant BRCA-FR 13 76174078 76174078 single base substitution A G upstream_gene_variant BRCA-FR 13 76177511 76177511 single base substitution G T intron_variant BRCA-FR 13 76177511 76177511 single base substitution G T upstream_gene_variant BRCA-UK 13 76142008 76142008 single base substitution C T intron_variant BRCA-UK 13 76142008 76142008 single base substitution C T upstream_gene_variant BRCA-UK 13 76157799 76157799 single base substitution C T intron_variant BRCA-UK 13 76165720 76165720 single base substitution A G intron_variant BRCA-US 13 76141383 76141383 single base substitution A G exon_variant BRCA-US 13 76141383 76141383 single base substitution A G missense_variant K121E 361A>G BRCA-US 13 76141383 76141383 single base substitution A G missense_variant K55E 163A>G BRCA-US 13 76141383 76141383 single base substitution A G upstream_gene_variant BRCA-US 13 76141388 76141388 single base substitution C A exon_variant BRCA-US 13 76141388 76141388 single base substitution C A missense_variant F122L 366C>A BRCA-US 13 76141388 76141388 single base substitution C A missense_variant F56L 168C>A BRCA-US 13 76141388 76141388 single base substitution C A upstream_gene_variant BTCA-JP 13 76164313 76164313 single base substitution C T intron_variant CLLE-ES 13 76120563 76120563 single base substitution C T upstream_gene_variant CLLE-ES 13 76122727 76122727 single base substitution C T upstream_gene_variant CLLE-ES 13 76124561 76124561 single base substitution A G intron_variant CLLE-ES 13 76124782 76124782 single base substitution T C intron_variant CLLE-ES 13 76129821 76129821 single base substitution C T intron_variant CLLE-ES 13 76135402 76135402 single base substitution G C intron_variant CLLE-ES 13 76162159 76162159 single base substitution T A intron_variant CLLE-ES 13 76162490 76162490 single base substitution T C intron_variant CLLE-ES 13 76173014 76173014 single base substitution A C downstream_gene_variant CLLE-ES 13 76173014 76173014 single base substitution A C intron_variant COCA-CN 13 76124269 76124269 single base substitution C G intron_variant COCA-CN 13 76140865 76140865 single base substitution T C exon_variant COCA-CN 13 76140865 76140865 single base substitution T C missense_variant I73T 218T>C COCA-CN 13 76140865 76140865 single base substitution T C missense_variant I7T 20T>C COCA-CN 13 76140865 76140865 single base substitution T C upstream_gene_variant COCA-CN 13 76164100 76164100 single base substitution T G intron_variant COCA-CN 13 76164100 76164100 single base substitution T G synonymous_variant P101P 303T>G COCA-CN 13 76169070 76169070 single base substitution A C exon_variant COCA-CN 13 76169070 76169070 single base substitution A C missense_variant K163T 488A>C COCA-CN 13 76169070 76169070 single base substitution A C missense_variant K165T 494A>C EOPC-DE 13 76138479 76138479 single base substitution G T intron_variant EOPC-DE 13 76138479 76138479 single base substitution G T upstream_gene_variant EOPC-DE 13 76172847 76172847 single base substitution T G downstream_gene_variant EOPC-DE 13 76172847 76172847 single base substitution T G intron_variant EOPC-DE 13 76183745 76183745 single base substitution C T downstream_gene_variant ESAD-UK 13 76119315 76119315 single base substitution G T upstream_gene_variant ESAD-UK 13 76120308 76120308 single base substitution T C upstream_gene_variant ESAD-UK 13 76122301 76122301 single base substitution C A upstream_gene_variant ESAD-UK 13 76122883 76122883 single base substitution T C upstream_gene_variant ESAD-UK 13 76124001 76124001 single base substitution G A intron_variant ESAD-UK 13 76128045 76128045 single base substitution G A intron_variant ESAD-UK 13 76128197 76128197 insertion of <=200bp - T intron_variant ESAD-UK 13 76129558 76129558 single base substitution C A intron_variant ESAD-UK 13 76132059 76132059 single base substitution T G intron_variant ESAD-UK 13 76132177 76132177 single base substitution T A intron_variant ESAD-UK 13 76132197 76132197 single base substitution G T intron_variant ESAD-UK 13 76136426 76136426 single base substitution T C intron_variant ESAD-UK 13 76136426 76136426 single base substitution T C upstream_gene_variant ESAD-UK 13 76138592 76138592 single base substitution G A intron_variant ESAD-UK 13 76138592 76138592 single base substitution G A upstream_gene_variant ESAD-UK 13 76141894 76141894 single base substitution G A intron_variant ESAD-UK 13 76141894 76141894 single base substitution G A upstream_gene_variant ESAD-UK 13 76142612 76142612 insertion of <=200bp - TA intron_variant ESAD-UK 13 76142612 76142612 insertion of <=200bp - TA upstream_gene_variant ESAD-UK 13 76142656 76142656 single base substitution G T intron_variant ESAD-UK 13 76142656 76142656 single base substitution G T upstream_gene_variant ESAD-UK 13 76144623 76144623 single base substitution C T intron_variant ESAD-UK 13 76146169 76146169 insertion of <=200bp - TTCC intron_variant ESAD-UK 13 76146626 76146626 single base substitution G A intron_variant ESAD-UK 13 76149919 76149919 single base substitution G T intron_variant ESAD-UK 13 76150210 76150210 single base substitution C A intron_variant ESAD-UK 13 76151000 76151000 single base substitution C T intron_variant ESAD-UK 13 76151408 76151408 insertion of <=200bp - A intron_variant ESAD-UK 13 76152099 76152099 deletion of <=200bp C - intron_variant ESAD-UK 13 76152530 76152530 single base substitution T A intron_variant ESAD-UK 13 76155219 76155219 single base substitution T G intron_variant ESAD-UK 13 76157990 76157990 single base substitution C T intron_variant ESAD-UK 13 76158590 76158590 single base substitution G A intron_variant ESAD-UK 13 76158772 76158772 single base substitution G T intron_variant ESAD-UK 13 76163119 76163119 deletion of <=200bp T - intron_variant ESAD-UK 13 76163775 76163775 single base substitution A T intron_variant ESAD-UK 13 76164943 76164943 single base substitution G T intron_variant ESAD-UK 13 76167458 76167458 single base substitution G C intron_variant ESAD-UK 13 76168388 76168388 single base substitution A C intron_variant ESAD-UK 13 76168573 76168573 single base substitution C G intron_variant ESAD-UK 13 76169256 76169256 single base substitution C A downstream_gene_variant ESAD-UK 13 76169256 76169256 single base substitution C A intron_variant ESAD-UK 13 76169782 76169782 single base substitution G C downstream_gene_variant ESAD-UK 13 76169782 76169782 single base substitution G C intron_variant ESAD-UK 13 76169932 76169932 single base substitution T C downstream_gene_variant ESAD-UK 13 76169932 76169932 single base substitution T C intron_variant ESAD-UK 13 76170942 76170942 single base substitution G A downstream_gene_variant ESAD-UK 13 76170942 76170942 single base substitution G A intron_variant ESAD-UK 13 76174189 76174189 single base substitution T G intron_variant ESAD-UK 13 76174189 76174189 single base substitution T G upstream_gene_variant ESAD-UK 13 76174211 76174211 single base substitution T C intron_variant ESAD-UK 13 76174211 76174211 single base substitution T C upstream_gene_variant ESAD-UK 13 76178128 76178128 insertion of <=200bp - T intron_variant ESAD-UK 13 76178128 76178128 insertion of <=200bp - T upstream_gene_variant ESAD-UK 13 76182274 76182274 single base substitution A G downstream_gene_variant GBM-US 13 76134909 76134909 single base substitution A T exon_variant GBM-US 13 76134909 76134909 single base substitution A T synonymous_variant L25L 75A>T KIRC-US 13 76140954 76140954 single base substitution G A exon_variant KIRC-US 13 76140954 76140954 single base substitution G A missense_variant A103T 307G>A KIRC-US 13 76140954 76140954 single base substitution G A missense_variant A37T 109G>A KIRC-US 13 76140954 76140954 single base substitution G A upstream_gene_variant LAML-KR 13 76178784 76178784 single base substitution A G exon_variant LAML-KR 13 76178784 76178784 single base substitution A G intron_variant LICA-FR 13 76123967 76123967 single base substitution A G intron_variant LICA-FR 13 76123967 76123967 single base substitution A G missense_variant Q4R 11A>G LICA-FR 13 76139251 76139251 single base substitution A G intron_variant LICA-FR 13 76139251 76139251 single base substitution A G upstream_gene_variant LICA-FR 13 76140827 76140827 single base substitution A G splice_region_variant LICA-FR 13 76140827 76140827 single base substitution A G upstream_gene_variant LICA-FR 13 76142028 76142028 single base substitution A G intron_variant LICA-FR 13 76142028 76142028 single base substitution A G upstream_gene_variant LICA-FR 13 76153996 76153996 single base substitution A T intron_variant LIHC-US 13 76135000 76135000 single base substitution T C exon_variant LIHC-US 13 76135000 76135000 single base substitution T C missense_variant F56L 166T>C LIHC-US 13 76140947 76140947 single base substitution G A exon_variant LIHC-US 13 76140947 76140947 single base substitution G A synonymous_variant L100L 300G>A LIHC-US 13 76140947 76140947 single base substitution G A synonymous_variant L34L 102G>A LIHC-US 13 76140947 76140947 single base substitution G A upstream_gene_variant LINC-JP 13 76119770 76119770 single base substitution G C upstream_gene_variant LINC-JP 13 76120336 76120336 single base substitution G A upstream_gene_variant LINC-JP 13 76129748 76129748 single base substitution T A intron_variant LINC-JP 13 76136849 76136849 single base substitution A G intron_variant LINC-JP 13 76136849 76136849 single base substitution A G upstream_gene_variant LINC-JP 13 76142228 76142228 single base substitution C A intron_variant LINC-JP 13 76142228 76142228 single base substitution C A upstream_gene_variant LINC-JP 13 76164230 76164230 single base substitution T G intron_variant LINC-JP 13 76164230 76164230 single base substitution T G missense_variant F145V 433T>G LINC-JP 13 76173056 76173056 single base substitution A G downstream_gene_variant LINC-JP 13 76173056 76173056 single base substitution A G intron_variant LINC-JP 13 76174252 76174252 single base substitution T A intron_variant LINC-JP 13 76174252 76174252 single base substitution T A upstream_gene_variant LIRI-JP 13 76120173 76120173 single base substitution C A upstream_gene_variant LIRI-JP 13 76120237 76120237 single base substitution T G upstream_gene_variant LIRI-JP 13 76122027 76122027 single base substitution A C upstream_gene_variant LIRI-JP 13 76124623 76124623 single base substitution C T intron_variant LIRI-JP 13 76127455 76127455 single base substitution C A intron_variant LIRI-JP 13 76127598 76127598 single base substitution T G intron_variant LIRI-JP 13 76128600 76128600 single base substitution T C intron_variant LIRI-JP 13 76129627 76129627 single base substitution A T intron_variant LIRI-JP 13 76129748 76129748 single base substitution T A intron_variant LIRI-JP 13 76130165 76130165 single base substitution G A intron_variant LIRI-JP 13 76133675 76133675 single base substitution G T intron_variant LIRI-JP 13 76133961 76133961 single base substitution C T intron_variant LIRI-JP 13 76135917 76135917 single base substitution G C intron_variant LIRI-JP 13 76135917 76135917 single base substitution G C upstream_gene_variant LIRI-JP 13 76136695 76136695 single base substitution C T intron_variant LIRI-JP 13 76136695 76136695 single base substitution C T upstream_gene_variant LIRI-JP 13 76136845 76136847 deletion of <=200bp TAT - intron_variant LIRI-JP 13 76136845 76136847 deletion of <=200bp TAT - upstream_gene_variant LIRI-JP 13 76139031 76139031 single base substitution C T intron_variant LIRI-JP 13 76139031 76139031 single base substitution C T upstream_gene_variant LIRI-JP 13 76141345 76141345 single base substitution C G intron_variant LIRI-JP 13 76141345 76141345 single base substitution C G upstream_gene_variant LIRI-JP 13 76144651 76144651 single base substitution C T intron_variant LIRI-JP 13 76145319 76145319 single base substitution A G intron_variant LIRI-JP 13 76145883 76145883 single base substitution C A intron_variant LIRI-JP 13 76147835 76147835 single base substitution G A intron_variant LIRI-JP 13 76148406 76148406 single base substitution A T intron_variant LIRI-JP 13 76148804 76148804 single base substitution A G intron_variant LIRI-JP 13 76150470 76150470 single base substitution A G intron_variant LIRI-JP 13 76151581 76151581 single base substitution A C intron_variant LIRI-JP 13 76153514 76153514 single base substitution A T intron_variant LIRI-JP 13 76155066 76155066 single base substitution G T intron_variant LIRI-JP 13 76155175 76155175 single base substitution T A intron_variant LIRI-JP 13 76158704 76158704 single base substitution A G intron_variant LIRI-JP 13 76165665 76165678 deletion of <=200bp AAATGAACATATAA - intron_variant LIRI-JP 13 76166994 76166994 single base substitution T C intron_variant LIRI-JP 13 76171156 76171156 single base substitution A G downstream_gene_variant LIRI-JP 13 76171156 76171156 single base substitution A G intron_variant LIRI-JP 13 76173703 76173703 single base substitution A C downstream_gene_variant LIRI-JP 13 76173703 76173703 single base substitution A C intron_variant LIRI-JP 13 76173703 76173703 single base substitution A C upstream_gene_variant LIRI-JP 13 76175576 76175576 single base substitution G A intron_variant LIRI-JP 13 76175576 76175576 single base substitution G A upstream_gene_variant LIRI-JP 13 76175688 76175688 single base substitution A G intron_variant LIRI-JP 13 76175688 76175688 single base substitution A G upstream_gene_variant LIRI-JP 13 76181790 76181790 single base substitution A G downstream_gene_variant LIRI-JP 13 76183892 76183892 single base substitution A G downstream_gene_variant LIRI-JP 13 76183899 76183899 single base substitution A C downstream_gene_variant LIRI-JP 13 76184285 76184285 single base substitution G T downstream_gene_variant LIRI-JP 13 76184480 76184480 single base substitution A G downstream_gene_variant LUSC-KR 13 76124930 76124930 single base substitution C T intron_variant LUSC-KR 13 76126737 76126737 single base substitution C G intron_variant LUSC-KR 13 76143621 76143621 single base substitution G T exon_variant LUSC-KR 13 76143621 76143621 single base substitution G T missense_variant S151I 452G>T LUSC-KR 13 76143621 76143621 single base substitution G T missense_variant S85I 254G>T LUSC-KR 13 76148763 76148763 single base substitution T G intron_variant LUSC-KR 13 76149552 76149552 single base substitution A T intron_variant LUSC-KR 13 76151602 76151602 single base substitution G A intron_variant LUSC-KR 13 76164370 76164370 single base substitution C T intron_variant LUSC-KR 13 76169219 76169219 single base substitution T G downstream_gene_variant LUSC-KR 13 76169219 76169219 single base substitution T G intron_variant LUSC-KR 13 76169257 76169257 single base substitution A G downstream_gene_variant LUSC-KR 13 76169257 76169257 single base substitution A G intron_variant LUSC-KR 13 76172968 76172968 single base substitution C T downstream_gene_variant LUSC-KR 13 76172968 76172968 single base substitution C T intron_variant LUSC-KR 13 76180042 76180042 single base substitution T G 3_prime_UTR_variant LUSC-KR 13 76180042 76180042 single base substitution T G exon_variant LUSC-US 13 76179926 76179926 single base substitution C T exon_variant LUSC-US 13 76179926 76179926 single base substitution C T missense_variant A222V 665C>T LUSC-US 13 76179926 76179926 single base substitution C T missense_variant A224V 671C>T MALY-DE 13 76124137 76124137 single base substitution C T intron_variant MALY-DE 13 76125509 76125509 single base substitution T C intron_variant MALY-DE 13 76132531 76132531 single base substitution C T intron_variant MALY-DE 13 76135439 76135439 single base substitution C T intron_variant MALY-DE 13 76147007 76147007 single base substitution C T intron_variant MALY-DE 13 76159060 76159060 single base substitution A G intron_variant MALY-DE 13 76167278 76167278 single base substitution T G intron_variant MALY-DE 13 76167843 76167843 single base substitution C T intron_variant MALY-DE 13 76170139 76170139 single base substitution T G downstream_gene_variant MALY-DE 13 76170139 76170139 single base substitution T G intron_variant MALY-DE 13 76170247 76170247 single base substitution T A downstream_gene_variant MALY-DE 13 76170247 76170247 single base substitution T A intron_variant MALY-DE 13 76178182 76178182 single base substitution T C intron_variant MALY-DE 13 76178182 76178182 single base substitution T C upstream_gene_variant MALY-DE 13 76179724 76179724 single base substitution T C intron_variant MALY-DE 13 76181601 76181601 single base substitution T C downstream_gene_variant MALY-DE 13 76182181 76182181 single base substitution G C downstream_gene_variant MELA-AU 13 76119845 76119845 single base substitution G A upstream_gene_variant MELA-AU 13 76120311 76120311 single base substitution C A upstream_gene_variant MELA-AU 13 76120830 76120830 single base substitution G A upstream_gene_variant MELA-AU 13 76120905 76120905 single base substitution A G upstream_gene_variant MELA-AU 13 76121026 76121026 single base substitution G C upstream_gene_variant MELA-AU 13 76121348 76121348 single base substitution G A upstream_gene_variant MELA-AU 13 76121515 76121515 single base substitution G A upstream_gene_variant MELA-AU 13 76121632 76121632 single base substitution G A upstream_gene_variant MELA-AU 13 76122228 76122228 single base substitution G A upstream_gene_variant MELA-AU 13 76122336 76122336 single base substitution C T upstream_gene_variant MELA-AU 13 76122378 76122378 single base substitution G A upstream_gene_variant MELA-AU 13 76123683 76123684 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 13 76123683 76123684 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 13 76123720 76123720 single base substitution G A exon_variant MELA-AU 13 76123720 76123720 single base substitution G A upstream_gene_variant MELA-AU 13 76123741 76123741 single base substitution C T exon_variant MELA-AU 13 76123741 76123741 single base substitution C T upstream_gene_variant MELA-AU 13 76124356 76124356 single base substitution A T intron_variant MELA-AU 13 76125152 76125152 single base substitution C T intron_variant MELA-AU 13 76125361 76125361 single base substitution C T intron_variant MELA-AU 13 76125621 76125621 single base substitution C T intron_variant MELA-AU 13 76126087 76126087 single base substitution C T intron_variant MELA-AU 13 76127619 76127619 single base substitution C T intron_variant MELA-AU 13 76127961 76127961 single base substitution C T intron_variant MELA-AU 13 76128504 76128504 single base substitution T C intron_variant MELA-AU 13 76128576 76128576 single base substitution C T intron_variant MELA-AU 13 76129182 76129182 single base substitution C T intron_variant MELA-AU 13 76129435 76129435 single base substitution C T intron_variant MELA-AU 13 76129921 76129921 single base substitution G A intron_variant MELA-AU 13 76131403 76131403 single base substitution T G intron_variant MELA-AU 13 76132384 76132384 single base substitution G T intron_variant MELA-AU 13 76132970 76132970 single base substitution C T intron_variant MELA-AU 13 76133759 76133759 single base substitution C T intron_variant MELA-AU 13 76134879 76134879 single base substitution C T intron_variant MELA-AU 13 76134958 76134958 single base substitution C T exon_variant MELA-AU 13 76134958 76134958 single base substitution C T missense_variant L42F 124C>T MELA-AU 13 76136505 76136505 single base substitution C T intron_variant MELA-AU 13 76136505 76136505 single base substitution C T upstream_gene_variant MELA-AU 13 76136735 76136735 single base substitution T A intron_variant MELA-AU 13 76136735 76136735 single base substitution T A upstream_gene_variant MELA-AU 13 76137175 76137175 single base substitution A T intron_variant MELA-AU 13 76137175 76137175 single base substitution A T upstream_gene_variant MELA-AU 13 76137303 76137303 single base substitution A G intron_variant MELA-AU 13 76137303 76137303 single base substitution A G upstream_gene_variant MELA-AU 13 76137385 76137385 single base substitution C T intron_variant MELA-AU 13 76137385 76137385 single base substitution C T upstream_gene_variant MELA-AU 13 76137509 76137509 single base substitution C T intron_variant MELA-AU 13 76137509 76137509 single base substitution C T upstream_gene_variant MELA-AU 13 76137886 76137886 single base substitution C T intron_variant MELA-AU 13 76137886 76137886 single base substitution C T upstream_gene_variant MELA-AU 13 76137903 76137903 single base substitution C T intron_variant MELA-AU 13 76137903 76137903 single base substitution C T upstream_gene_variant MELA-AU 13 76138824 76138824 single base substitution A G intron_variant MELA-AU 13 76138824 76138824 single base substitution A G upstream_gene_variant MELA-AU 13 76139585 76139585 single base substitution C T intron_variant MELA-AU 13 76139585 76139585 single base substitution C T upstream_gene_variant MELA-AU 13 76139904 76139904 single base substitution C T intron_variant MELA-AU 13 76139904 76139904 single base substitution C T upstream_gene_variant MELA-AU 13 76140505 76140505 single base substitution C T intron_variant MELA-AU 13 76140505 76140505 single base substitution C T upstream_gene_variant MELA-AU 13 76140630 76140630 single base substitution C T intron_variant MELA-AU 13 76140630 76140630 single base substitution C T upstream_gene_variant MELA-AU 13 76141399 76141399 single base substitution C T exon_variant MELA-AU 13 76141399 76141399 single base substitution C T missense_variant S126F 377C>T MELA-AU 13 76141399 76141399 single base substitution C T missense_variant S60F 179C>T MELA-AU 13 76141399 76141399 single base substitution C T upstream_gene_variant MELA-AU 13 76141439 76141439 single base substitution G A exon_variant MELA-AU 13 76141439 76141439 single base substitution G A synonymous_variant E139E 417G>A MELA-AU 13 76141439 76141439 single base substitution G A synonymous_variant E73E 219G>A MELA-AU 13 76141439 76141439 single base substitution G A upstream_gene_variant MELA-AU 13 76142024 76142024 single base substitution C T intron_variant MELA-AU 13 76142024 76142024 single base substitution C T upstream_gene_variant MELA-AU 13 76142116 76142116 single base substitution A G intron_variant MELA-AU 13 76142116 76142116 single base substitution A G upstream_gene_variant MELA-AU 13 76142753 76142753 single base substitution C T intron_variant MELA-AU 13 76142753 76142753 single base substitution C T upstream_gene_variant MELA-AU 13 76144751 76144751 single base substitution C T intron_variant MELA-AU 13 76146237 76146237 single base substitution C T intron_variant MELA-AU 13 76146651 76146651 single base substitution C T intron_variant MELA-AU 13 76146652 76146652 single base substitution C T intron_variant MELA-AU 13 76146800 76146800 single base substitution A G intron_variant MELA-AU 13 76147063 76147063 single base substitution C T intron_variant MELA-AU 13 76148938 76148938 single base substitution A T intron_variant MELA-AU 13 76149373 76149373 single base substitution C T intron_variant MELA-AU 13 76149572 76149572 single base substitution C T intron_variant MELA-AU 13 76149963 76149963 single base substitution C T intron_variant MELA-AU 13 76150230 76150230 single base substitution C T intron_variant MELA-AU 13 76150394 76150394 single base substitution C T intron_variant MELA-AU 13 76151165 76151165 single base substitution C T intron_variant MELA-AU 13 76151271 76151271 single base substitution C T intron_variant MELA-AU 13 76151650 76151651 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 76152071 76152071 single base substitution C T intron_variant MELA-AU 13 76152332 76152332 single base substitution C T intron_variant MELA-AU 13 76152757 76152757 single base substitution G A intron_variant MELA-AU 13 76153434 76153434 single base substitution C T intron_variant MELA-AU 13 76153657 76153657 single base substitution C T intron_variant MELA-AU 13 76153697 76153697 single base substitution C T intron_variant MELA-AU 13 76153951 76153951 single base substitution G A intron_variant MELA-AU 13 76154194 76154194 single base substitution T G intron_variant MELA-AU 13 76154408 76154408 single base substitution C T intron_variant MELA-AU 13 76154520 76154520 single base substitution T A intron_variant MELA-AU 13 76155022 76155022 single base substitution G C intron_variant MELA-AU 13 76155677 76155677 single base substitution T C intron_variant MELA-AU 13 76156248 76156248 single base substitution C T intron_variant MELA-AU 13 76156710 76156710 single base substitution C A intron_variant MELA-AU 13 76157096 76157096 single base substitution A T intron_variant MELA-AU 13 76157388 76157388 single base substitution C T intron_variant MELA-AU 13 76157897 76157897 single base substitution G A intron_variant MELA-AU 13 76158282 76158282 single base substitution T C intron_variant MELA-AU 13 76158366 76158366 single base substitution C T intron_variant MELA-AU 13 76158825 76158825 single base substitution A G intron_variant MELA-AU 13 76158886 76158886 single base substitution G C intron_variant MELA-AU 13 76159404 76159404 single base substitution T C intron_variant MELA-AU 13 76159745 76159745 single base substitution A G intron_variant MELA-AU 13 76160128 76160128 single base substitution C T intron_variant MELA-AU 13 76160594 76160594 single base substitution A T intron_variant MELA-AU 13 76162590 76162590 single base substitution C G intron_variant MELA-AU 13 76162865 76162865 single base substitution C T intron_variant MELA-AU 13 76163117 76163117 single base substitution C T intron_variant MELA-AU 13 76163151 76163151 single base substitution C T intron_variant MELA-AU 13 76164087 76164087 single base substitution C T intron_variant MELA-AU 13 76164087 76164087 single base substitution C T missense_variant S97F 290C>T MELA-AU 13 76164093 76164093 single base substitution C T intron_variant MELA-AU 13 76164093 76164093 single base substitution C T missense_variant S99L 296C>T MELA-AU 13 76164479 76164479 single base substitution C T intron_variant MELA-AU 13 76164673 76164673 single base substitution T A intron_variant MELA-AU 13 76164843 76164843 single base substitution C T intron_variant MELA-AU 13 76165433 76165433 single base substitution C T intron_variant MELA-AU 13 76165691 76165691 single base substitution C T intron_variant MELA-AU 13 76166889 76166889 single base substitution A T intron_variant MELA-AU 13 76167076 76167076 single base substitution C T intron_variant MELA-AU 13 76167306 76167306 single base substitution T G intron_variant MELA-AU 13 76168187 76168187 single base substitution A C intron_variant MELA-AU 13 76168600 76168600 single base substitution C T intron_variant MELA-AU 13 76168720 76168720 single base substitution C T intron_variant MELA-AU 13 76169037 76169038 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 76169687 76169687 single base substitution C T downstream_gene_variant MELA-AU 13 76169687 76169687 single base substitution C T intron_variant MELA-AU 13 76170064 76170064 single base substitution C T downstream_gene_variant MELA-AU 13 76170064 76170064 single base substitution C T intron_variant MELA-AU 13 76170392 76170392 single base substitution C T downstream_gene_variant MELA-AU 13 76170392 76170392 single base substitution C T intron_variant MELA-AU 13 76172243 76172243 single base substitution G A downstream_gene_variant MELA-AU 13 76172243 76172243 single base substitution G A intron_variant MELA-AU 13 76172536 76172536 single base substitution C T downstream_gene_variant MELA-AU 13 76172536 76172536 single base substitution C T intron_variant MELA-AU 13 76172577 76172577 single base substitution C T downstream_gene_variant MELA-AU 13 76172577 76172577 single base substitution C T intron_variant MELA-AU 13 76172929 76172929 single base substitution C T downstream_gene_variant MELA-AU 13 76172929 76172929 single base substitution C T intron_variant MELA-AU 13 76173040 76173040 single base substitution C T downstream_gene_variant MELA-AU 13 76173040 76173040 single base substitution C T intron_variant MELA-AU 13 76173122 76173122 single base substitution C T downstream_gene_variant MELA-AU 13 76173122 76173122 single base substitution C T intron_variant MELA-AU 13 76173724 76173724 single base substitution C T downstream_gene_variant MELA-AU 13 76173724 76173724 single base substitution C T intron_variant MELA-AU 13 76173724 76173724 single base substitution C T upstream_gene_variant MELA-AU 13 76173870 76173870 single base substitution T C downstream_gene_variant MELA-AU 13 76173870 76173870 single base substitution T C intron_variant MELA-AU 13 76173870 76173870 single base substitution T C upstream_gene_variant MELA-AU 13 76174109 76174109 single base substitution C T downstream_gene_variant MELA-AU 13 76174109 76174109 single base substitution C T intron_variant MELA-AU 13 76174109 76174109 single base substitution C T upstream_gene_variant MELA-AU 13 76174234 76174234 single base substitution C T intron_variant MELA-AU 13 76174234 76174234 single base substitution C T upstream_gene_variant MELA-AU 13 76175920 76175920 single base substitution C T intron_variant MELA-AU 13 76175920 76175920 single base substitution C T upstream_gene_variant MELA-AU 13 76176429 76176429 single base substitution C T intron_variant MELA-AU 13 76176429 76176429 single base substitution C T upstream_gene_variant MELA-AU 13 76176454 76176454 single base substitution C T intron_variant MELA-AU 13 76176454 76176454 single base substitution C T upstream_gene_variant MELA-AU 13 76176650 76176650 single base substitution A G intron_variant MELA-AU 13 76176650 76176650 single base substitution A G upstream_gene_variant MELA-AU 13 76177174 76177174 single base substitution G A intron_variant MELA-AU 13 76177174 76177174 single base substitution G A upstream_gene_variant MELA-AU 13 76177423 76177423 single base substitution C T intron_variant MELA-AU 13 76177423 76177423 single base substitution C T upstream_gene_variant MELA-AU 13 76177974 76177974 single base substitution C T intron_variant MELA-AU 13 76177974 76177974 single base substitution C T upstream_gene_variant MELA-AU 13 76178032 76178032 single base substitution T C intron_variant MELA-AU 13 76178032 76178032 single base substitution T C upstream_gene_variant MELA-AU 13 76178395 76178395 single base substitution T C intron_variant MELA-AU 13 76178395 76178395 single base substitution T C upstream_gene_variant MELA-AU 13 76178513 76178513 single base substitution C T intron_variant MELA-AU 13 76178513 76178513 single base substitution C T upstream_gene_variant MELA-AU 13 76178928 76178928 deletion of <=200bp A - exon_variant MELA-AU 13 76178928 76178928 deletion of <=200bp A - frameshift_variant N190 MELA-AU 13 76178928 76178928 deletion of <=200bp A - frameshift_variant N192 MELA-AU 13 76179441 76179441 single base substitution C T intron_variant MELA-AU 13 76179621 76179621 single base substitution G A intron_variant MELA-AU 13 76180236 76180237 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 13 76180488 76180488 single base substitution C T downstream_gene_variant MELA-AU 13 76180522 76180522 single base substitution C T downstream_gene_variant MELA-AU 13 76181825 76181825 single base substitution C T downstream_gene_variant MELA-AU 13 76182609 76182609 single base substitution A T downstream_gene_variant MELA-AU 13 76183113 76183113 single base substitution A C downstream_gene_variant MELA-AU 13 76183431 76183431 single base substitution C T downstream_gene_variant MELA-AU 13 76183451 76183451 single base substitution C T downstream_gene_variant MELA-AU 13 76183462 76183462 single base substitution C T downstream_gene_variant MELA-AU 13 76183536 76183536 single base substitution C T downstream_gene_variant MELA-AU 13 76184312 76184312 single base substitution C T downstream_gene_variant MELA-AU 13 76184339 76184339 single base substitution G A downstream_gene_variant MELA-AU 13 76184378 76184378 single base substitution C T downstream_gene_variant MELA-AU 13 76184379 76184379 single base substitution C T downstream_gene_variant ORCA-IN 13 76146165 76146165 single base substitution A T intron_variant OV-AU 13 76123079 76123079 single base substitution C A upstream_gene_variant OV-AU 13 76125427 76125427 single base substitution C T intron_variant OV-AU 13 76133169 76133169 single base substitution T C intron_variant OV-AU 13 76137305 76137305 single base substitution A G intron_variant OV-AU 13 76137305 76137305 single base substitution A G upstream_gene_variant OV-AU 13 76142161 76142161 single base substitution C G intron_variant OV-AU 13 76142161 76142161 single base substitution C G upstream_gene_variant OV-AU 13 76146982 76146982 single base substitution G A intron_variant OV-AU 13 76158741 76158741 single base substitution G A intron_variant OV-AU 13 76160925 76160925 single base substitution G T intron_variant OV-AU 13 76166557 76166557 single base substitution T C intron_variant OV-AU 13 76166680 76166680 single base substitution A T intron_variant OV-AU 13 76171387 76171387 single base substitution T C downstream_gene_variant OV-AU 13 76171387 76171387 single base substitution T C intron_variant OV-AU 13 76174098 76174098 single base substitution A C downstream_gene_variant OV-AU 13 76174098 76174098 single base substitution A C intron_variant OV-AU 13 76174098 76174098 single base substitution A C upstream_gene_variant PACA-AU 13 76119877 76119877 single base substitution G T upstream_gene_variant PACA-AU 13 76122867 76122867 single base substitution T G upstream_gene_variant PACA-AU 13 76128746 76128746 single base substitution C T intron_variant PACA-AU 13 76131428 76131428 single base substitution T A intron_variant PACA-AU 13 76136049 76136049 single base substitution A T intron_variant PACA-AU 13 76136049 76136049 single base substitution A T upstream_gene_variant PACA-AU 13 76138060 76138060 single base substitution G C intron_variant PACA-AU 13 76138060 76138060 single base substitution G C upstream_gene_variant PACA-AU 13 76150272 76150272 single base substitution T C intron_variant PACA-AU 13 76150712 76150712 single base substitution G A intron_variant PACA-AU 13 76172729 76172729 single base substitution C T downstream_gene_variant PACA-AU 13 76172729 76172729 single base substitution C T intron_variant PACA-AU 13 76174329 76174329 single base substitution G T intron_variant PACA-AU 13 76174329 76174329 single base substitution G T upstream_gene_variant PACA-AU 13 76183815 76183815 deletion of <=200bp A - downstream_gene_variant PACA-AU 13 76184381 76184381 single base substitution T C downstream_gene_variant PACA-CA 13 76119651 76119651 single base substitution G A upstream_gene_variant PACA-CA 13 76121555 76121555 single base substitution G A upstream_gene_variant PACA-CA 13 76123253 76123253 single base substitution G A upstream_gene_variant PACA-CA 13 76127831 76127831 single base substitution C A intron_variant PACA-CA 13 76128337 76128337 single base substitution A C intron_variant PACA-CA 13 76134871 76134871 single base substitution C T intron_variant PACA-CA 13 76135315 76135315 single base substitution C T intron_variant PACA-CA 13 76139242 76139242 insertion of <=200bp - T intron_variant PACA-CA 13 76139242 76139242 insertion of <=200bp - T upstream_gene_variant PACA-CA 13 76140525 76140525 single base substitution T C intron_variant PACA-CA 13 76140525 76140525 single base substitution T C upstream_gene_variant PACA-CA 13 76152373 76152373 single base substitution A G intron_variant PACA-CA 13 76155164 76155164 single base substitution T C intron_variant PACA-CA 13 76159128 76159128 single base substitution A G intron_variant PACA-CA 13 76160785 76160785 single base substitution A T intron_variant PACA-CA 13 76163309 76163309 deletion of <=200bp G - intron_variant PACA-CA 13 76166692 76166692 single base substitution T C intron_variant PACA-CA 13 76175882 76175882 single base substitution C T intron_variant PACA-CA 13 76175882 76175882 single base substitution C T upstream_gene_variant PACA-CA 13 76177136 76177136 deletion of <=200bp T - intron_variant PACA-CA 13 76177136 76177136 deletion of <=200bp T - upstream_gene_variant PACA-CA 13 76182597 76182597 single base substitution T A downstream_gene_variant PACA-CA 13 76182791 76182791 single base substitution C T downstream_gene_variant PACA-CA 13 76183561 76183561 single base substitution T G downstream_gene_variant PAEN-AU 13 76125207 76125207 single base substitution A C intron_variant PAEN-AU 13 76131983 76131983 single base substitution C G intron_variant PAEN-AU 13 76165377 76165377 single base substitution A G intron_variant PAEN-IT 13 76154043 76154043 single base substitution G A intron_variant PBCA-DE 13 76122000 76122000 single base substitution C T upstream_gene_variant PBCA-DE 13 76131841 76131841 single base substitution G C intron_variant PBCA-DE 13 76133343 76133344 deletion of <=200bp TT - intron_variant PBCA-DE 13 76138057 76138058 deletion of <=200bp TG - intron_variant PBCA-DE 13 76138057 76138058 deletion of <=200bp TG - upstream_gene_variant PBCA-DE 13 76144384 76144384 insertion of <=200bp - T intron_variant PBCA-DE 13 76145374 76145374 deletion of <=200bp A - intron_variant PBCA-DE 13 76151339 76151339 single base substitution T A intron_variant PBCA-DE 13 76151340 76151340 single base substitution C T intron_variant PBCA-DE 13 76153182 76153182 insertion of <=200bp - A intron_variant PBCA-DE 13 76158024 76158024 single base substitution G A intron_variant PBCA-DE 13 76180361 76180361 single base substitution T C downstream_gene_variant PRAD-CA 13 76156724 76156724 single base substitution T C intron_variant PRAD-CA 13 76167175 76167175 single base substitution T G intron_variant PRAD-CA 13 76184747 76184747 single base substitution C G downstream_gene_variant PRAD-UK 13 76119276 76119276 single base substitution C A upstream_gene_variant PRAD-UK 13 76130152 76130152 single base substitution T C intron_variant PRAD-UK 13 76151660 76151660 single base substitution G A intron_variant PRAD-UK 13 76156199 76156199 single base substitution C G intron_variant PRAD-UK 13 76160249 76160249 single base substitution G A intron_variant PRAD-UK 13 76164329 76164329 single base substitution T C intron_variant PRAD-UK 13 76166239 76166239 single base substitution T A intron_variant PRAD-UK 13 76166709 76166709 single base substitution T C intron_variant PRAD-UK 13 76171839 76171839 single base substitution C T downstream_gene_variant PRAD-UK 13 76171839 76171839 single base substitution C T intron_variant PRAD-UK 13 76172143 76172145 deletion of <=200bp CTT - downstream_gene_variant PRAD-UK 13 76172143 76172145 deletion of <=200bp CTT - intron_variant PRAD-UK 13 76176481 76176481 insertion of <=200bp - A intron_variant PRAD-UK 13 76176481 76176481 insertion of <=200bp - A upstream_gene_variant PRAD-UK 13 76176487 76176487 insertion of <=200bp - A intron_variant PRAD-UK 13 76176487 76176487 insertion of <=200bp - A upstream_gene_variant RECA-EU 13 76141669 76141669 single base substitution A T intron_variant RECA-EU 13 76141669 76141669 single base substitution A T upstream_gene_variant RECA-EU 13 76148628 76148628 single base substitution G T intron_variant SKCA-BR 13 76118956 76118956 single base substitution G A upstream_gene_variant SKCA-BR 13 76123456 76123456 single base substitution C T upstream_gene_variant SKCA-BR 13 76132484 76132484 single base substitution A G intron_variant SKCA-BR 13 76132633 76132633 single base substitution G A intron_variant SKCA-BR 13 76134907 76134907 single base substitution C T exon_variant SKCA-BR 13 76134907 76134907 single base substitution C T synonymous_variant L25L 73C>T SKCA-BR 13 76135932 76135974 deletion of <=200bp TGTATACGTATACATACGTATACGTATATACGTACGTATATAC - intron_variant SKCA-BR 13 76135932 76135974 deletion of <=200bp TGTATACGTATACATACGTATACGTATATACGTACGTATATAC - upstream_gene_variant SKCA-BR 13 76139079 76139079 single base substitution C T intron_variant SKCA-BR 13 76139079 76139079 single base substitution C T upstream_gene_variant SKCA-BR 13 76141016 76141016 insertion of <=200bp - TC intron_variant SKCA-BR 13 76141016 76141016 insertion of <=200bp - TC upstream_gene_variant SKCA-BR 13 76141909 76141909 single base substitution C T intron_variant SKCA-BR 13 76141909 76141909 single base substitution C T upstream_gene_variant SKCA-BR 13 76143572 76143572 single base substitution T C exon_variant SKCA-BR 13 76143572 76143572 single base substitution T C intron_variant SKCA-BR 13 76146112 76146112 insertion of <=200bp - CTGTCT intron_variant SKCA-BR 13 76147252 76147252 single base substitution C T intron_variant SKCA-BR 13 76155682 76155682 single base substitution T G intron_variant SKCA-BR 13 76155691 76155691 single base substitution C T intron_variant SKCA-BR 13 76158328 76158328 single base substitution C T intron_variant SKCA-BR 13 76159104 76159104 single base substitution A G intron_variant SKCA-BR 13 76161954 76161954 single base substitution G A intron_variant SKCA-BR 13 76163674 76163674 single base substitution C T intron_variant SKCA-BR 13 76164313 76164313 insertion of <=200bp - CT intron_variant SKCA-BR 13 76164840 76164840 single base substitution C T intron_variant SKCA-BR 13 76164893 76164893 single base substitution C T intron_variant SKCA-BR 13 76166417 76166417 single base substitution A G intron_variant SKCA-BR 13 76166566 76166566 single base substitution A G intron_variant SKCA-BR 13 76166573 76166573 single base substitution T C intron_variant SKCA-BR 13 76166574 76166574 single base substitution A G intron_variant SKCA-BR 13 76166576 76166576 single base substitution A G intron_variant SKCA-BR 13 76166581 76166581 single base substitution T C intron_variant SKCA-BR 13 76166630 76166631 deletion of <=200bp CT - intron_variant SKCA-BR 13 76168012 76168012 single base substitution A T intron_variant SKCA-BR 13 76168726 76168726 insertion of <=200bp - GA intron_variant SKCA-BR 13 76168727 76168727 single base substitution T A intron_variant SKCA-BR 13 76169378 76169378 single base substitution A G downstream_gene_variant SKCA-BR 13 76169378 76169378 single base substitution A G intron_variant SKCA-BR 13 76172345 76172345 single base substitution C T downstream_gene_variant SKCA-BR 13 76172345 76172345 single base substitution C T intron_variant SKCA-BR 13 76174476 76174476 single base substitution T G intron_variant SKCA-BR 13 76174476 76174476 single base substitution T G upstream_gene_variant SKCA-BR 13 76176920 76176920 single base substitution C T intron_variant SKCA-BR 13 76176920 76176920 single base substitution C T upstream_gene_variant SKCA-BR 13 76179504 76179504 single base substitution T G intron_variant SKCA-BR 13 76183330 76183330 single base substitution C T downstream_gene_variant SKCM-US 13 76134927 76134927 single base substitution C T exon_variant SKCM-US 13 76134927 76134927 single base substitution C T synonymous_variant F31F 93C>T SKCM-US 13 76169099 76169099 single base substitution C T exon_variant SKCM-US 13 76169099 76169099 single base substitution C T missense_variant H173Y 517C>T SKCM-US 13 76169099 76169099 single base substitution C T missense_variant H175Y 523C>T STAD-US 13 76135004 76135004 single base substitution C G exon_variant STAD-US 13 76135004 76135004 single base substitution C G missense_variant P57R 170C>G STAD-US 13 76179869 76179869 single base substitution C T exon_variant STAD-US 13 76179869 76179869 single base substitution C T missense_variant A203V 608C>T STAD-US 13 76179869 76179869 single base substitution C T missense_variant A205V 614C>T STAD-US 13 76179898 76179898 single base substitution C T exon_variant STAD-US 13 76179898 76179898 single base substitution C T missense_variant R213C 637C>T STAD-US 13 76179898 76179898 single base substitution C T missense_variant R215C 643C>T THCA-SA 13 76180042 76180042 single base substitution T G 3_prime_UTR_variant THCA-SA 13 76180042 76180042 single base substitution T G exon_variant UCEC-US 13 76164074 76164076 deletion of <=200bp TCC - intron_variant UCEC-US 13 76164074 76164076 deletion of <=200bp TCC - splice_region_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-B0-5106-01 COSM469554 c.307G>A p.A103T Substitution - Missense 13:75566818-75566818 + CHC205T COSM3765715 c.184-4A>G p.? Unknown 13:75566691-75566691 + TCGA-CG-5723-01 COSM4048357 c.643C>T p.R215C Substitution - Missense 13:75605762-75605762 + TCGA-EE-A3AC-06 COSM3469604 c.523C>T p.H175Y Substitution - Missense 13:75594963-75594963 + TCGA-GN-A266-06 COSM3469604 c.523C>T p.H175Y Substitution - Missense 13:75594963-75594963 + YUKAT COSM5376869 c.156C>T p.V52V Substitution - coding silent 13:75560854-75560854 + ME009T COSM223651 c.103T>C p.Y35H Substitution - Missense 13:75560801-75560801 + ESCC_126 COSM5641251 c.231A>G p.G77G Substitution - coding silent 13:75566742-75566742 + TCGA-CC-A3M9-01 COSM4928608 c.300G>A p.L100L Substitution - coding silent 13:75566811-75566811 + QC2-39-T2 COSM5655727 c.641A>G p.E214G Substitution - Missense 13:75605760-75605760 + C004 COSM551740 c.93C>T p.F31F Substitution - coding silent 13:75560791-75560791 + YULAN COSM1706841 c.80C>T p.P27L Substitution - Missense 13:75560778-75560778 + TCGA-AA-A00N-01 COSM277990 c.646G>A p.D216N Substitution - Missense 13:75605765-75605765 + TCGA-BR-4361-01 COSM4048356 c.614C>T p.A205V Substitution - Missense 13:75605733-75605733 + 9227_T COSM5039977 c.111G>A p.M37I Substitution - Missense 13:75560809-75560809 + Gp2D COSM4627217 c.190G>A p.V64I Substitution - Missense 13:75566701-75566701 + CSCC-18-T COSM4478831 c.226C>T p.Q76* Substitution - Nonsense 13:75566737-75566737 + T684 COSM4739001 c.672G>A p.A224A Substitution - coding silent 13:75605791-75605791 + CHC1035T COSM3667287 c.11A>G p.Q4R Substitution - Missense 13:75549831-75549831 + Au4 COSM5605261 c.124C>T p.L42F Substitution - Missense 13:75560822-75560822 + TCGA-FJ-A3Z7-01 COSM3793364 c.45C>T p.V15V Substitution - coding silent 13:75549978-75549978 + LP6005690-DNA_D01 COSM4410191 c.42+3G>A p.? Unknown 13:75549865-75549865 + SNUH_G16_S1 COSM3676635 c.500A>G p.D167G Substitution - Missense 13:75594940-75594940 + TCGA-18-3414-01 COSM697392 c.671C>T p.A224V Substitution - Missense 13:75605790-75605790 + TCGA-A8-A06R-01 COSM432546 c.361A>G p.K121E Substitution - Missense 13:75567247-75567247 + Pat_24_A COSM5842691 c.401G>A p.R134Q Substitution - Missense 13:75567287-75567287 + TCGA-CG-4438-01 COSM4048355 c.170C>G p.P57R Substitution - Missense 13:75560868-75560868 + TCGA-D3-A51G-06 COSM551740 c.93C>T p.F31F Substitution - coding silent 13:75560791-75560791 + sysucc-1397T COSM5473490 c.218T>C p.I73T Substitution - Missense 13:75566729-75566729 + TCGA-BH-A0B6-01 COSM3814043 c.366C>A p.F122L Substitution - Missense 13:75567252-75567252 + TCGA-32-1977-01 COSM3399445 c.75A>T p.L25L Substitution - coding silent 13:75560773-75560773 + CHC1035T COSM3667287 c.11A>G p.Q4R Substitution - Missense 13:75549831-75549831 + ESO-721 COSM1269679 c.609G>T p.E203D Substitution - Missense 13:75604827-75604827 + TCGA-ES-A2HS-01 COSM4910475 c.166T>C p.F56L Substitution - Missense 13:75560864-75560864 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.162239;Hs.162241 13q22.2 603090

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.K121E c.361A>G 13 76141383 BRCA A G Missense p.M37V c.109A>G 13 76134943 HNSC A G Synonymous p.K120K c.360A>G 13 76141382 CM A T Synonymous p.L25L c.75A>T 13 76134909 GBM C G Missense p.P57R c.170C>G 13 76135004 STAD C T Missense p.A224V c.671C>T 13 76179926 LUSC C T Missense p.H175Y c.523C>T 13 76169099 CM C T Synonymous p.F31F c.93C>T 13 76134927 LUAD G A Missense p.A103T c.307G>A 13 76140954 RCCC G A Missense p.G77R c.229G>A 13 76140876 CM G T Missense p.E203D c.609G>T 13 76178963 ESCA T C Missense p.Y35H c.103T>C 13 76134937 CM T - IntronicDeletion . c.340+29delT 13 76141011 STAD T - IntronicDeletion . c.610-10delT 13 76179846 STAD