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 6 2766344 2766346 + In_Frame_Del DEL AGG AGG - TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 g.chr6:2766344_2766346delAGG c.488_490delAGG c.(487-492)caggag>cag p.E167del BLCA 6 2769089 2769089 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 g.chr6:2769089G>A c.987G>A c.(985-987)gaG>gaA p.E329E BLCA 6 2770476 2770476 + Silent SNP G G A TCGA-XF-A9T6-01A-11D-A42E-08 TCGA-XF-A9T6-10A-01D-A42H-08 g.chr6:2770476G>A c.1137G>A c.(1135-1137)aaG>aaA p.K379K BLCA 6 2785457 2785457 + Missense_Mutation SNP C C G TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 g.chr6:2785457C>G c.1939C>G c.(1939-1941)Cag>Gag p.Q647E BRCA 6 2769106 2769106 + Missense_Mutation SNP A A C TCGA-D8-A1JK-01A-11D-A13L-09 TCGA-D8-A1JK-10A-01D-A13O-09 g.chr6:2769106A>C c.1004A>C c.(1003-1005)aAa>aCa p.K335T BRCA 6 2770366 2770366 + Missense_Mutation SNP C C T TCGA-AO-A12E-01A-11D-A10M-09 TCGA-AO-A12E-10A-01D-A10M-09 g.chr6:2770366C>T c.1027C>T c.(1027-1029)Cct>Tct p.P343S BRCA 6 2785330 2785330 + Silent SNP G G A TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 g.chr6:2785330G>A c.1812G>A c.(1810-1812)ctG>ctA p.L604L BRCA 6 2785389 2785389 + Missense_Mutation SNP G G A TCGA-E2-A10A-01A-21D-A10Y-09 TCGA-E2-A10A-10A-01D-A110-09 g.chr6:2785389G>A c.1871G>A c.(1870-1872)aGg>aAg p.R624K CESC 6 2766657 2766657 + Missense_Mutation SNP G G T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 g.chr6:2766657G>T c.801G>T c.(799-801)tgG>tgT p.W267C CESC 6 2770393 2770393 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr6:2770393C>G c.1054C>G c.(1054-1056)Ctg>Gtg p.L352V CESC 6 2770431 2770431 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr6:2770431C>G c.1092C>G c.(1090-1092)gtC>gtG p.V364V CESC 6 2779557 2779557 + Silent SNP C C T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 g.chr6:2779557C>T c.1317C>T c.(1315-1317)gaC>gaT p.D439D CESC 6 2779572 2779572 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 g.chr6:2779572G>A c.1332G>A c.(1330-1332)ttG>ttA p.L444L CESC 6 2785498 2785498 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr6:2785498C>T c.1980C>T c.(1978-1980)ttC>ttT p.F660F COAD 6 2768980 2768980 + Missense_Mutation SNP T T C TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr6:2768980T>C c.878T>C c.(877-879)gTg>gCg p.V293A COAD 6 2770357 2770357 + Missense_Mutation SNP A A G TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr6:2770357A>G c.1018A>G c.(1018-1020)Act>Gct p.T340A COADREAD 6 2768980 2768980 + Missense_Mutation SNP T T C TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr6:2768980T>C c.878T>C c.(877-879)gTg>gCg p.V293A COADREAD 6 2770357 2770357 + Missense_Mutation SNP A A G TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr6:2770357A>G c.1018A>G c.(1018-1020)Act>Gct p.T340A ESCA 6 2779582 2779582 + Nonsense_Mutation SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 g.chr6:2779582C>T c.1342C>T c.(1342-1344)Cag>Tag p.Q448* ESCA 6 2783659 2783659 + Silent SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 g.chr6:2783659C>T c.1506C>T c.(1504-1506)tgC>tgT p.C502C ESCA 6 2784625 2784625 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 g.chr6:2784625G>A c.1710G>A c.(1708-1710)atG>atA p.M570I GBM 6 2770518 2770518 + Silent SNP C C T TCGA-06-5858-01A-01D-1696-08 TCGA-06-5858-10A-01D-1696-08 g.chr6:2770518C>T c.1179C>T c.(1177-1179)atC>atT p.I393I GBMLGG 6 2770460 2770463 + Frame_Shift_Del DEL TGAT TGAT - TCGA-E1-5307-01A-01D-1893-08 TCGA-E1-5307-10A-01D-1893-08 g.chr6:2770460_2770463delTGAT c.1121_1124delTGAT c.(1120-1125)gtgattfs p.VI374fs GBMLGG 6 2770518 2770518 + Silent SNP C C T TCGA-06-5858-01A-01D-1696-08 TCGA-06-5858-10A-01D-1696-08 g.chr6:2770518C>T c.1179C>T c.(1177-1179)atC>atT p.I393I HNSC 6 2779537 2779537 + Missense_Mutation SNP G G A TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 g.chr6:2779537G>A c.1297G>A c.(1297-1299)Gct>Act p.A433T KIPAN 6 2768965 2768965 + Missense_Mutation SNP A A G TCGA-BP-4766-01A-01D-1366-10 TCGA-BP-4766-11A-01D-1366-10 g.chr6:2768965A>G c.863A>G c.(862-864)cAt>cGt p.H288R KIPAN 6 2784577 2784577 + Silent SNP G G A TCGA-BP-5196-01A-01D-1429-08 TCGA-BP-5196-11A-01D-1429-08 g.chr6:2784577G>A c.1662G>A c.(1660-1662)gcG>gcA p.A554A KIRC 6 2768965 2768965 + Missense_Mutation SNP A A G TCGA-BP-4766-01A-01D-1366-10 TCGA-BP-4766-11A-01D-1366-10 g.chr6:2768965A>G c.863A>G c.(862-864)cAt>cGt p.H288R KIRC 6 2784577 2784577 + Silent SNP G G A TCGA-BP-5196-01A-01D-1429-08 TCGA-BP-5196-11A-01D-1429-08 g.chr6:2784577G>A c.1662G>A c.(1660-1662)gcG>gcA p.A554A LGG 6 2770460 2770463 + Frame_Shift_Del DEL TGAT TGAT - TCGA-E1-5307-01A-01D-1893-08 TCGA-E1-5307-10A-01D-1893-08 g.chr6:2770460_2770463delTGAT c.1121_1124delTGAT c.(1120-1125)gtgattfs p.VI374fs LUAD 6 2765952 2765952 + Frame_Shift_Del DEL C C - TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 g.chr6:2765952delC c.96delC c.(94-96)atcfs p.I32fs LUAD 6 2769019 2769019 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 g.chr6:2769019G>A c.917G>A c.(916-918)cGa>cAa p.R306Q OV 6 2784566 2784566 + Missense_Mutation SNP G G A TCGA-24-1560-01A-01W-0615-10 TCGA-24-1560-10A-01W-0615-10 g.chr6:2784566G>A c.1651G>A c.(1651-1653)Gac>Aac p.D551N PAAD 6 2770555 2770555 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:2770555C>A c.1216C>A c.(1216-1218)Ccc>Acc p.P406T PAAD 6 2784570 2784570 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:2784570C>T c.1655C>T c.(1654-1656)cCg>cTg p.P552L PRAD 6 2770371 2770371 + Silent SNP C C T TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 g.chr6:2770371C>T c.1032C>T c.(1030-1032)caC>caT p.H344H SARC 6 2770457 2770457 + Missense_Mutation SNP G G T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 g.chr6:2770457G>T c.1118G>T c.(1117-1119)cGa>cTa p.R373L SKCM 6 2766621 2766621 + Silent SNP C C G TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr6:2766621C>G c.765C>G c.(763-765)ctC>ctG p.L255L SKCM 6 2768977 2768977 + Missense_Mutation SNP T T A TCGA-EE-A29N-06A-12D-A197-08 TCGA-EE-A29N-10A-01D-A199-08 g.chr6:2768977T>A c.875T>A c.(874-876)tTt>tAt p.F292Y SKCM 6 2770558 2770558 + Missense_Mutation SNP A A G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr6:2770558A>G c.1219A>G c.(1219-1221)Act>Gct p.T407A SKCM 6 2779538 2779538 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr6:2779538C>T c.1298C>T c.(1297-1299)gCt>gTt p.A433V SKCM 6 2779539 2779539 + Silent SNP T T C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr6:2779539T>C c.1299T>C c.(1297-1299)gcT>gcC p.A433A SKCM 6 2783732 2783732 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 g.chr6:2783732G>A c.1579G>A c.(1579-1581)Gag>Aag p.E527K SKCM 6 2783763 2783763 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 g.chr6:2783763G>A c.1610G>A c.(1609-1611)cGg>cAg p.R537Q SKCM 6 2784557 2784557 + Splice_Site SNP G G T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr6:2784557G>T c.e6-1 SKCM 6 2785494 2785494 + Missense_Mutation SNP T T A TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr6:2785494T>A c.1976T>A c.(1975-1977)tTc>tAc p.F659Y SKCM 6 2785495 2785495 + Missense_Mutation SNP C C G TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr6:2785495C>G c.1977C>G c.(1975-1977)ttC>ttG p.F659L

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 6 2766344 2766346 deletion of <=200bp AGG - 5_prime_UTR_variant BLCA-US 6 2766344 2766346 deletion of <=200bp AGG - inframe_deletion QE163Q BLCA-US 6 2766344 2766346 deletion of <=200bp AGG - upstream_gene_variant BLCA-US 6 2769089 2769089 single base substitution G A 5_prime_UTR_variant BLCA-US 6 2769089 2769089 single base substitution G A synonymous_variant E109E 327G>A BLCA-US 6 2769089 2769089 single base substitution G A synonymous_variant E329E 987G>A BOCA-FR 6 2766305 2766305 single base substitution G A 5_prime_UTR_variant BOCA-FR 6 2766305 2766305 single base substitution G A missense_variant G150E 449G>A BOCA-FR 6 2766305 2766305 single base substitution G A upstream_gene_variant BRCA-EU 6 2760971 2760971 single base substitution C T upstream_gene_variant BRCA-EU 6 2764157 2764157 single base substitution G A upstream_gene_variant BRCA-EU 6 2765090 2765090 single base substitution G C upstream_gene_variant BRCA-EU 6 2766509 2766509 single base substitution T G 5_prime_UTR_variant BRCA-EU 6 2766509 2766509 single base substitution T G missense_variant I218S 653T>G BRCA-EU 6 2766509 2766509 single base substitution T G upstream_gene_variant BRCA-EU 6 2766913 2766913 single base substitution G T intron_variant BRCA-EU 6 2766913 2766913 single base substitution G T upstream_gene_variant BRCA-EU 6 2767171 2767171 single base substitution A G intron_variant BRCA-EU 6 2767171 2767171 single base substitution A G upstream_gene_variant BRCA-EU 6 2768013 2768013 single base substitution G A intron_variant BRCA-EU 6 2768013 2768013 single base substitution G A upstream_gene_variant BRCA-EU 6 2769653 2769653 single base substitution T A intron_variant BRCA-EU 6 2769856 2769856 single base substitution T C intron_variant BRCA-EU 6 2769917 2769917 single base substitution G C intron_variant BRCA-EU 6 2771102 2771102 deletion of <=200bp G - intron_variant BRCA-EU 6 2771448 2771448 single base substitution G C intron_variant BRCA-EU 6 2772383 2772383 single base substitution C G intron_variant BRCA-EU 6 2773420 2773420 single base substitution T A intron_variant BRCA-EU 6 2773421 2773421 deletion of <=200bp A - intron_variant BRCA-EU 6 2774754 2774754 single base substitution G T intron_variant BRCA-EU 6 2777023 2777023 single base substitution G C intron_variant BRCA-EU 6 2778760 2778760 single base substitution G T intron_variant BRCA-EU 6 2781066 2781066 single base substitution G A intron_variant BRCA-EU 6 2781325 2781325 single base substitution T C intron_variant BRCA-EU 6 2781607 2781636 deletion of <=200bp ACATGTCTGCCCCACAGTGGATCCGCAGAC - intron_variant BRCA-EU 6 2783025 2783025 single base substitution G A intron_variant BRCA-EU 6 2783713 2783713 single base substitution C T synonymous_variant Y136Y 408C>T BRCA-EU 6 2783713 2783713 single base substitution C T synonymous_variant Y300Y 900C>T BRCA-EU 6 2783713 2783713 single base substitution C T synonymous_variant Y495Y 1485C>T BRCA-EU 6 2783713 2783713 single base substitution C T synonymous_variant Y520Y 1560C>T BRCA-EU 6 2785598 2785598 single base substitution G T 3_prime_UTR_variant BRCA-EU 6 2785853 2785853 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 6 2786112 2786112 single base substitution C A 3_prime_UTR_variant BRCA-EU 6 2786112 2786112 single base substitution C A downstream_gene_variant BRCA-EU 6 2787776 2787776 single base substitution G T downstream_gene_variant BRCA-EU 6 2789470 2789470 single base substitution G A downstream_gene_variant BRCA-EU 6 2790119 2790119 single base substitution C G downstream_gene_variant BRCA-EU 6 2790432 2790432 single base substitution G C downstream_gene_variant BRCA-FR 6 2765090 2765090 single base substitution G C upstream_gene_variant BRCA-FR 6 2771448 2771448 single base substitution G C intron_variant BRCA-FR 6 2772842 2772842 single base substitution C T intron_variant BRCA-FR 6 2773420 2773420 single base substitution T A intron_variant BRCA-FR 6 2777023 2777023 single base substitution G C intron_variant BRCA-FR 6 2789470 2789470 single base substitution G A downstream_gene_variant BRCA-UK 6 2766913 2766913 single base substitution G T intron_variant BRCA-UK 6 2766913 2766913 single base substitution G T upstream_gene_variant BRCA-UK 6 2783025 2783025 single base substitution G A intron_variant BRCA-UK 6 2783713 2783713 single base substitution C T synonymous_variant Y136Y 408C>T BRCA-UK 6 2783713 2783713 single base substitution C T synonymous_variant Y300Y 900C>T BRCA-UK 6 2783713 2783713 single base substitution C T synonymous_variant Y495Y 1485C>T BRCA-UK 6 2783713 2783713 single base substitution C T synonymous_variant Y520Y 1560C>T BRCA-UK 6 2786112 2786112 single base substitution C A 3_prime_UTR_variant BRCA-UK 6 2786112 2786112 single base substitution C A downstream_gene_variant BRCA-UK 6 2790432 2790432 single base substitution G C downstream_gene_variant BRCA-US 6 2769106 2769106 single base substitution A C 5_prime_UTR_variant BRCA-US 6 2769106 2769106 single base substitution A C missense_variant K115T 344A>C BRCA-US 6 2769106 2769106 single base substitution A C missense_variant K335T 1004A>C BRCA-US 6 2770366 2770366 single base substitution C T 5_prime_UTR_variant BRCA-US 6 2770366 2770366 single base substitution C T intron_variant BRCA-US 6 2770366 2770366 single base substitution C T missense_variant P123S 367C>T BRCA-US 6 2770366 2770366 single base substitution C T missense_variant P343S 1027C>T BRCA-US 6 2785330 2785330 single base substitution G A synonymous_variant L220L 660G>A BRCA-US 6 2785330 2785330 single base substitution G A synonymous_variant L384L 1152G>A BRCA-US 6 2785330 2785330 single base substitution G A synonymous_variant L579L 1737G>A BRCA-US 6 2785330 2785330 single base substitution G A synonymous_variant L604L 1812G>A BRCA-US 6 2785389 2785389 single base substitution G A missense_variant R240K 719G>A BRCA-US 6 2785389 2785389 single base substitution G A missense_variant R404K 1211G>A BRCA-US 6 2785389 2785389 single base substitution G A missense_variant R599K 1796G>A BRCA-US 6 2785389 2785389 single base substitution G A missense_variant R624K 1871G>A BTCA-JP 6 2766727 2766727 single base substitution A G intron_variant BTCA-JP 6 2766727 2766727 single base substitution A G upstream_gene_variant BTCA-JP 6 2770451 2770451 single base substitution G A 5_prime_UTR_variant BTCA-JP 6 2770451 2770451 single base substitution G A missense_variant R151H 452G>A BTCA-JP 6 2770451 2770451 single base substitution G A missense_variant R346H 1037G>A BTCA-JP 6 2770451 2770451 single base substitution G A missense_variant R371H 1112G>A BTCA-JP 6 2783868 2783868 single base substitution C T intron_variant CESC-US 6 2766657 2766657 single base substitution G T missense_variant W267C 801G>T CESC-US 6 2766657 2766657 single base substitution G T missense_variant W47C 141G>T CESC-US 6 2766657 2766657 single base substitution G T upstream_gene_variant CESC-US 6 2770393 2770393 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant CESC-US 6 2770393 2770393 single base substitution C G intron_variant CESC-US 6 2770393 2770393 single base substitution C G missense_variant L132V 394C>G CESC-US 6 2770393 2770393 single base substitution C G missense_variant L352V 1054C>G CESC-US 6 2770431 2770431 single base substitution C G 5_prime_UTR_variant CESC-US 6 2770431 2770431 single base substitution C G splice_region_variant CESC-US 6 2770431 2770431 single base substitution C G synonymous_variant V144V 432C>G CESC-US 6 2770431 2770431 single base substitution C G synonymous_variant V364V 1092C>G CESC-US 6 2779557 2779557 single base substitution C T synonymous_variant D219D 657C>T CESC-US 6 2779557 2779557 single base substitution C T synonymous_variant D414D 1242C>T CESC-US 6 2779557 2779557 single base substitution C T synonymous_variant D439D 1317C>T CESC-US 6 2779557 2779557 single base substitution C T synonymous_variant D55D 165C>T CESC-US 6 2779572 2779572 single base substitution G A synonymous_variant L224L 672G>A CESC-US 6 2779572 2779572 single base substitution G A synonymous_variant L419L 1257G>A CESC-US 6 2779572 2779572 single base substitution G A synonymous_variant L444L 1332G>A CESC-US 6 2779572 2779572 single base substitution G A synonymous_variant L60L 180G>A CESC-US 6 2785498 2785498 single base substitution C T synonymous_variant F276F 828C>T CESC-US 6 2785498 2785498 single base substitution C T synonymous_variant F440F 1320C>T CESC-US 6 2785498 2785498 single base substitution C T synonymous_variant F635F 1905C>T CESC-US 6 2785498 2785498 single base substitution C T synonymous_variant F660F 1980C>T CLLE-ES 6 2769118 2769118 single base substitution T A splice_donor_variant COAD-US 6 2768980 2768980 single base substitution T C missense_variant V293A 878T>C COAD-US 6 2768980 2768980 single base substitution T C missense_variant V73A 218T>C COAD-US 6 2768980 2768980 single base substitution T C upstream_gene_variant COCA-CN 6 2763668 2763668 single base substitution G A upstream_gene_variant COCA-CN 6 2765807 2765807 single base substitution C T 5_prime_UTR_variant COCA-CN 6 2765807 2765807 single base substitution C T upstream_gene_variant COCA-CN 6 2766605 2766605 single base substitution C T missense_variant T250I 749C>T COCA-CN 6 2766605 2766605 single base substitution C T missense_variant T30I 89C>T COCA-CN 6 2766605 2766605 single base substitution C T upstream_gene_variant COCA-CN 6 2766779 2766779 single base substitution G A intron_variant COCA-CN 6 2766779 2766779 single base substitution G A upstream_gene_variant COCA-CN 6 2768816 2768816 single base substitution G T intron_variant COCA-CN 6 2768816 2768816 single base substitution G T upstream_gene_variant COCA-CN 6 2770559 2770559 single base substitution C T missense_variant T187I 560C>T COCA-CN 6 2770559 2770559 single base substitution C T missense_variant T23I 68C>T COCA-CN 6 2770559 2770559 single base substitution C T missense_variant T382I 1145C>T COCA-CN 6 2770559 2770559 single base substitution C T missense_variant T407I 1220C>T COCA-CN 6 2784546 2784546 single base substitution T G intron_variant COCA-CN 6 2784672 2784672 single base substitution C A intron_variant COCA-CN 6 2784803 2784803 single base substitution G T intron_variant COCA-CN 6 2784850 2784850 single base substitution A G intron_variant ESAD-UK 6 2760966 2760966 single base substitution A T upstream_gene_variant ESAD-UK 6 2762656 2762656 single base substitution T C upstream_gene_variant ESAD-UK 6 2762737 2762737 single base substitution C T upstream_gene_variant ESAD-UK 6 2771015 2771015 single base substitution C G intron_variant ESAD-UK 6 2771274 2771274 deletion of <=200bp T - intron_variant ESAD-UK 6 2774202 2774202 single base substitution G T intron_variant ESAD-UK 6 2777764 2777764 single base substitution G A intron_variant ESAD-UK 6 2777800 2777800 single base substitution C G intron_variant ESAD-UK 6 2778567 2778567 single base substitution C T intron_variant ESCA-CN 6 2766203 2766203 single base substitution C T missense_variant T116I 347C>T ESCA-CN 6 2766203 2766203 single base substitution C T upstream_gene_variant ESCA-CN 6 2770381 2770381 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant ESCA-CN 6 2770381 2770381 single base substitution G T intron_variant ESCA-CN 6 2770381 2770381 single base substitution G T missense_variant G128W 382G>T ESCA-CN 6 2770381 2770381 single base substitution G T missense_variant G348W 1042G>T GBM-US 6 2770518 2770518 single base substitution C T synonymous_variant I173I 519C>T GBM-US 6 2770518 2770518 single base substitution C T synonymous_variant I368I 1104C>T GBM-US 6 2770518 2770518 single base substitution C T synonymous_variant I393I 1179C>T GBM-US 6 2770518 2770518 single base substitution C T synonymous_variant I9I 27C>T KIRC-US 6 2768965 2768965 single base substitution A G missense_variant H288R 863A>G KIRC-US 6 2768965 2768965 single base substitution A G missense_variant H68R 203A>G KIRC-US 6 2768965 2768965 single base substitution A G upstream_gene_variant KIRC-US 6 2784577 2784577 single base substitution G A synonymous_variant A170A 510G>A KIRC-US 6 2784577 2784577 single base substitution G A synonymous_variant A334A 1002G>A KIRC-US 6 2784577 2784577 single base substitution G A synonymous_variant A529A 1587G>A KIRC-US 6 2784577 2784577 single base substitution G A synonymous_variant A554A 1662G>A LGG-US 6 2770460 2770463 deletion of <=200bp TGAT - 5_prime_UTR_variant LGG-US 6 2770460 2770463 deletion of <=200bp TGAT - frameshift_variant VI154 LGG-US 6 2770460 2770463 deletion of <=200bp TGAT - frameshift_variant VI349 LGG-US 6 2770460 2770463 deletion of <=200bp TGAT - frameshift_variant VI374 LICA-FR 6 2791937 2791937 insertion of <=200bp - GTGTGTGTGT downstream_gene_variant LINC-JP 6 2765307 2765307 single base substitution C T upstream_gene_variant LINC-JP 6 2765609 2765609 single base substitution G A upstream_gene_variant LINC-JP 6 2770889 2770889 single base substitution C T intron_variant LINC-JP 6 2779525 2779525 single base substitution G A missense_variant V209I 625G>A LINC-JP 6 2779525 2779525 single base substitution G A missense_variant V404I 1210G>A LINC-JP 6 2779525 2779525 single base substitution G A missense_variant V429I 1285G>A LINC-JP 6 2779525 2779525 single base substitution G A missense_variant V45I 133G>A LINC-JP 6 2783820 2783820 single base substitution A T intron_variant LINC-JP 6 2784713 2784713 single base substitution A G intron_variant LINC-JP 6 2791410 2791410 single base substitution A G downstream_gene_variant LIRI-JP 6 2760955 2760955 single base substitution T C upstream_gene_variant LIRI-JP 6 2761024 2761024 single base substitution A C upstream_gene_variant LIRI-JP 6 2764863 2764868 deletion of <=200bp TTTCCA - upstream_gene_variant LIRI-JP 6 2764873 2764878 deletion of <=200bp TATCCG - upstream_gene_variant LIRI-JP 6 2767140 2767140 single base substitution T G intron_variant LIRI-JP 6 2767140 2767140 single base substitution T G upstream_gene_variant LIRI-JP 6 2770735 2770735 single base substitution A G intron_variant LIRI-JP 6 2770820 2770820 single base substitution A G intron_variant LIRI-JP 6 2771143 2771143 single base substitution A G intron_variant LIRI-JP 6 2772734 2772734 single base substitution C T intron_variant LIRI-JP 6 2774985 2774985 single base substitution A G intron_variant LIRI-JP 6 2778760 2778760 single base substitution G A intron_variant LIRI-JP 6 2779627 2779627 single base substitution A T stop_gained K243* 727A>T LIRI-JP 6 2779627 2779627 single base substitution A T stop_gained K438* 1312A>T LIRI-JP 6 2779627 2779627 single base substitution A T stop_gained K463* 1387A>T LIRI-JP 6 2779627 2779627 single base substitution A T stop_gained K79* 235A>T LIRI-JP 6 2782698 2782698 single base substitution C T intron_variant LIRI-JP 6 2783051 2783051 single base substitution G A intron_variant LIRI-JP 6 2783402 2783403 deletion of <=200bp TG - intron_variant LIRI-JP 6 2784981 2784981 single base substitution A G intron_variant LIRI-JP 6 2786701 2786701 single base substitution C G 3_prime_UTR_variant LIRI-JP 6 2786701 2786701 single base substitution C G downstream_gene_variant LIRI-JP 6 2787138 2787138 single base substitution T C 3_prime_UTR_variant LIRI-JP 6 2787138 2787138 single base substitution T C downstream_gene_variant LIRI-JP 6 2788437 2788437 single base substitution G T downstream_gene_variant LUSC-KR 6 2760915 2760915 single base substitution C G upstream_gene_variant LUSC-KR 6 2765658 2765658 single base substitution C T 5_prime_UTR_variant LUSC-KR 6 2765658 2765658 single base substitution C T upstream_gene_variant LUSC-KR 6 2775684 2775684 single base substitution G A intron_variant LUSC-KR 6 2784753 2784753 single base substitution A G intron_variant LUSC-KR 6 2787318 2787318 single base substitution G C downstream_gene_variant LUSC-US 6 2766468 2766468 insertion of <=200bp - G 5_prime_UTR_variant LUSC-US 6 2766468 2766468 insertion of <=200bp - G frameshift_variant G204G? LUSC-US 6 2766468 2766468 insertion of <=200bp - G upstream_gene_variant MALY-DE 6 2764993 2764993 single base substitution C G upstream_gene_variant MALY-DE 6 2769643 2769643 single base substitution T A intron_variant MALY-DE 6 2772673 2772673 single base substitution C T intron_variant MALY-DE 6 2772959 2772959 single base substitution A G intron_variant MALY-DE 6 2784972 2784972 single base substitution T C intron_variant MELA-AU 6 2760783 2760783 single base substitution T C upstream_gene_variant MELA-AU 6 2761286 2761286 single base substitution G A upstream_gene_variant MELA-AU 6 2762047 2762048 multiple base substitution (>=2bp and <=200bp) CA TG upstream_gene_variant MELA-AU 6 2762652 2762652 single base substitution G A upstream_gene_variant MELA-AU 6 2762676 2762676 single base substitution G A upstream_gene_variant MELA-AU 6 2763296 2763296 single base substitution C T upstream_gene_variant MELA-AU 6 2763375 2763375 single base substitution G A upstream_gene_variant MELA-AU 6 2763427 2763427 single base substitution G A upstream_gene_variant MELA-AU 6 2763769 2763769 single base substitution G A upstream_gene_variant MELA-AU 6 2763972 2763972 single base substitution G A upstream_gene_variant MELA-AU 6 2764082 2764082 single base substitution G A upstream_gene_variant MELA-AU 6 2764292 2764293 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 6 2764806 2764806 single base substitution T C upstream_gene_variant MELA-AU 6 2765279 2765279 single base substitution G A upstream_gene_variant MELA-AU 6 2766606 2766606 single base substitution C T synonymous_variant T250T 750C>T MELA-AU 6 2766606 2766606 single base substitution C T synonymous_variant T30T 90C>T MELA-AU 6 2766606 2766606 single base substitution C T upstream_gene_variant MELA-AU 6 2767027 2767027 single base substitution C T intron_variant MELA-AU 6 2767027 2767027 single base substitution C T upstream_gene_variant MELA-AU 6 2767350 2767350 single base substitution C T intron_variant MELA-AU 6 2767350 2767350 single base substitution C T upstream_gene_variant MELA-AU 6 2769891 2769891 deletion of <=200bp T - intron_variant MELA-AU 6 2770524 2770524 single base substitution C T synonymous_variant S11S 33C>T MELA-AU 6 2770524 2770524 single base substitution C T synonymous_variant S175S 525C>T MELA-AU 6 2770524 2770524 single base substitution C T synonymous_variant S370S 1110C>T MELA-AU 6 2770524 2770524 single base substitution C T synonymous_variant S395S 1185C>T MELA-AU 6 2771940 2771940 deletion of <=200bp A - intron_variant MELA-AU 6 2772500 2772500 single base substitution G A intron_variant MELA-AU 6 2773432 2773432 single base substitution C T intron_variant MELA-AU 6 2773559 2773559 single base substitution C T intron_variant MELA-AU 6 2773872 2773872 single base substitution G A intron_variant MELA-AU 6 2773894 2773894 single base substitution T C intron_variant MELA-AU 6 2773924 2773924 single base substitution C T intron_variant MELA-AU 6 2774143 2774143 single base substitution C T intron_variant MELA-AU 6 2774144 2774144 single base substitution C T intron_variant MELA-AU 6 2774639 2774639 single base substitution T G intron_variant MELA-AU 6 2774652 2774652 single base substitution T C intron_variant MELA-AU 6 2776065 2776065 single base substitution C T intron_variant MELA-AU 6 2776159 2776159 single base substitution C T intron_variant MELA-AU 6 2776672 2776672 single base substitution C T intron_variant MELA-AU 6 2777003 2777003 single base substitution C T intron_variant MELA-AU 6 2777127 2777128 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 2777538 2777538 single base substitution C A intron_variant MELA-AU 6 2777643 2777643 single base substitution C T intron_variant MELA-AU 6 2777666 2777666 single base substitution C T intron_variant MELA-AU 6 2777788 2777788 single base substitution C T intron_variant MELA-AU 6 2777923 2777923 single base substitution C T intron_variant MELA-AU 6 2778849 2778849 single base substitution G A intron_variant MELA-AU 6 2779538 2779539 multiple base substitution (>=2bp and <=200bp) CT TC missense_variant A213V 638CT>TC MELA-AU 6 2779538 2779539 multiple base substitution (>=2bp and <=200bp) CT TC missense_variant A408V 1223CT>TC MELA-AU 6 2779538 2779539 multiple base substitution (>=2bp and <=200bp) CT TC missense_variant A433V 1298CT>TC MELA-AU 6 2779538 2779539 multiple base substitution (>=2bp and <=200bp) CT TC missense_variant A49V 146CT>TC MELA-AU 6 2780470 2780470 single base substitution A T intron_variant MELA-AU 6 2780967 2780967 single base substitution C T intron_variant MELA-AU 6 2781335 2781335 single base substitution T C intron_variant MELA-AU 6 2781435 2781435 single base substitution C T intron_variant MELA-AU 6 2782365 2782365 single base substitution C T intron_variant MELA-AU 6 2782457 2782457 single base substitution C T intron_variant MELA-AU 6 2782734 2782734 single base substitution C T intron_variant MELA-AU 6 2782807 2782807 single base substitution C T intron_variant MELA-AU 6 2783400 2783400 single base substitution C T intron_variant MELA-AU 6 2784281 2784281 single base substitution C T intron_variant MELA-AU 6 2784369 2784369 single base substitution A G intron_variant MELA-AU 6 2784398 2784398 single base substitution C T intron_variant MELA-AU 6 2784537 2784537 single base substitution C T intron_variant MELA-AU 6 2785075 2785075 single base substitution C T intron_variant MELA-AU 6 2785119 2785119 single base substitution G A intron_variant MELA-AU 6 2785346 2785347 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P226L 676CC>TT MELA-AU 6 2785346 2785347 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P390L 1168CC>TT MELA-AU 6 2785346 2785347 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P585L 1753CC>TT MELA-AU 6 2785346 2785347 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P610L 1828CC>TT MELA-AU 6 2786496 2786496 single base substitution C T 3_prime_UTR_variant MELA-AU 6 2786496 2786496 single base substitution C T downstream_gene_variant MELA-AU 6 2787915 2787915 single base substitution C T downstream_gene_variant MELA-AU 6 2787931 2787931 single base substitution C T downstream_gene_variant MELA-AU 6 2789761 2789761 single base substitution T A downstream_gene_variant MELA-AU 6 2789817 2789817 single base substitution C T downstream_gene_variant MELA-AU 6 2790006 2790006 single base substitution C T downstream_gene_variant MELA-AU 6 2790036 2790036 single base substitution C T downstream_gene_variant MELA-AU 6 2791170 2791170 single base substitution T G downstream_gene_variant MELA-AU 6 2791407 2791407 single base substitution G A downstream_gene_variant MELA-AU 6 2792131 2792131 single base substitution T G downstream_gene_variant OV-AU 6 2761797 2761797 single base substitution T C upstream_gene_variant OV-AU 6 2766576 2766576 single base substitution C T synonymous_variant F20F 60C>T OV-AU 6 2766576 2766576 single base substitution C T synonymous_variant F240F 720C>T OV-AU 6 2766576 2766576 single base substitution C T upstream_gene_variant OV-AU 6 2768139 2768139 single base substitution C G intron_variant OV-AU 6 2768139 2768139 single base substitution C G upstream_gene_variant OV-AU 6 2778047 2778047 single base substitution T G intron_variant OV-AU 6 2778572 2778572 single base substitution A T intron_variant OV-AU 6 2782682 2782682 single base substitution A G intron_variant OV-AU 6 2789172 2789172 single base substitution A G downstream_gene_variant OV-AU 6 2789545 2789545 single base substitution G A downstream_gene_variant PACA-AU 6 2761033 2761033 single base substitution T G upstream_gene_variant PACA-AU 6 2765285 2765285 single base substitution C T upstream_gene_variant PACA-AU 6 2766109 2766109 single base substitution A C missense_variant T85P 253A>C PACA-AU 6 2766109 2766109 single base substitution A C upstream_gene_variant PACA-AU 6 2767796 2767796 single base substitution A G intron_variant PACA-AU 6 2767796 2767796 single base substitution A G upstream_gene_variant PACA-AU 6 2770464 2770464 single base substitution T C 5_prime_UTR_variant PACA-AU 6 2770464 2770464 single base substitution T C synonymous_variant I155I 465T>C PACA-AU 6 2770464 2770464 single base substitution T C synonymous_variant I350I 1050T>C PACA-AU 6 2770464 2770464 single base substitution T C synonymous_variant I375I 1125T>C PACA-AU 6 2770743 2770743 single base substitution G T intron_variant PACA-AU 6 2770744 2770744 single base substitution A T intron_variant PACA-AU 6 2770745 2770745 single base substitution A T intron_variant PACA-AU 6 2780935 2780938 deletion of <=200bp AAAA - intron_variant PACA-AU 6 2783786 2783786 single base substitution G A missense_variant E161K 481G>A PACA-AU 6 2783786 2783786 single base substitution G A missense_variant E325K 973G>A PACA-AU 6 2783786 2783786 single base substitution G A missense_variant E520K 1558G>A PACA-AU 6 2783786 2783786 single base substitution G A missense_variant E545K 1633G>A PACA-AU 6 2787858 2787858 single base substitution G A downstream_gene_variant PACA-CA 6 2761391 2761391 single base substitution C G upstream_gene_variant PACA-CA 6 2763704 2763704 single base substitution C A upstream_gene_variant PACA-CA 6 2764874 2764874 single base substitution A G upstream_gene_variant PACA-CA 6 2768655 2768655 single base substitution C G intron_variant PACA-CA 6 2768655 2768655 single base substitution C G upstream_gene_variant PACA-CA 6 2771217 2771217 single base substitution G C intron_variant PACA-CA 6 2772585 2772585 single base substitution G A intron_variant PACA-CA 6 2775190 2775190 single base substitution G A intron_variant PACA-CA 6 2778029 2778029 insertion of <=200bp - T intron_variant PACA-CA 6 2779093 2779093 single base substitution G A intron_variant PACA-CA 6 2779576 2779576 single base substitution G A missense_variant G226R 676G>A PACA-CA 6 2779576 2779576 single base substitution G A missense_variant G421R 1261G>A PACA-CA 6 2779576 2779576 single base substitution G A missense_variant G446R 1336G>A PACA-CA 6 2779576 2779576 single base substitution G A missense_variant G62R 184G>A PACA-CA 6 2789977 2789977 single base substitution C A downstream_gene_variant PAEN-AU 6 2766809 2766809 single base substitution G T intron_variant PAEN-AU 6 2766809 2766809 single base substitution G T upstream_gene_variant PAEN-AU 6 2775606 2775606 single base substitution A G intron_variant PAEN-AU 6 2780828 2780828 single base substitution C G intron_variant PAEN-AU 6 2787694 2787694 single base substitution A G downstream_gene_variant PBCA-DE 6 2783899 2783899 single base substitution T G intron_variant PBCA-DE 6 2785929 2785929 single base substitution A T 3_prime_UTR_variant PBCA-DE 6 2786546 2786546 single base substitution G A 3_prime_UTR_variant PBCA-DE 6 2786546 2786546 single base substitution G A downstream_gene_variant PBCA-DE 6 2789267 2789270 deletion of <=200bp ACTC - downstream_gene_variant PBCA-DE 6 2789356 2789356 single base substitution T G downstream_gene_variant PRAD-CA 6 2772905 2772905 single base substitution T G intron_variant PRAD-CA 6 2783257 2783257 single base substitution G A intron_variant PRAD-UK 6 2770151 2770151 single base substitution C T intron_variant PRAD-UK 6 2770326 2770326 single base substitution C A intron_variant PRAD-UK 6 2774222 2774222 deletion of <=200bp C - intron_variant PRAD-US 6 2770371 2770371 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant PRAD-US 6 2770371 2770371 single base substitution C T intron_variant PRAD-US 6 2770371 2770371 single base substitution C T synonymous_variant H124H 372C>T PRAD-US 6 2770371 2770371 single base substitution C T synonymous_variant H344H 1032C>T RECA-EU 6 2770976 2770976 single base substitution C A intron_variant RECA-EU 6 2775771 2775771 single base substitution T A intron_variant RECA-EU 6 2781569 2781569 single base substitution C T intron_variant SKCA-BR 6 2762320 2762320 single base substitution A T upstream_gene_variant SKCA-BR 6 2762360 2762360 single base substitution T C upstream_gene_variant SKCA-BR 6 2762375 2762375 single base substitution C T upstream_gene_variant SKCA-BR 6 2766465 2766465 single base substitution T C 5_prime_UTR_variant SKCA-BR 6 2766465 2766465 single base substitution T C synonymous_variant S203S 609T>C SKCA-BR 6 2766465 2766465 single base substitution T C upstream_gene_variant SKCA-BR 6 2770975 2770975 single base substitution C T intron_variant SKCA-BR 6 2774940 2774940 single base substitution T A intron_variant SKCA-BR 6 2778395 2778395 single base substitution C T intron_variant SKCA-BR 6 2779479 2779479 single base substitution A C intron_variant SKCA-BR 6 2783657 2783657 single base substitution T C missense_variant C118R 352T>C SKCA-BR 6 2783657 2783657 single base substitution T C missense_variant C282R 844T>C SKCA-BR 6 2783657 2783657 single base substitution T C missense_variant C477R 1429T>C SKCA-BR 6 2783657 2783657 single base substitution T C missense_variant C502R 1504T>C SKCA-BR 6 2783658 2783658 single base substitution G T missense_variant C118F 353G>T SKCA-BR 6 2783658 2783658 single base substitution G T missense_variant C282F 845G>T SKCA-BR 6 2783658 2783658 single base substitution G T missense_variant C477F 1430G>T SKCA-BR 6 2783658 2783658 single base substitution G T missense_variant C502F 1505G>T SKCA-BR 6 2783890 2783890 single base substitution A G intron_variant SKCA-BR 6 2784743 2784743 single base substitution C T intron_variant SKCA-BR 6 2785929 2785929 single base substitution A T 3_prime_UTR_variant SKCA-BR 6 2787255 2787255 single base substitution C T downstream_gene_variant SKCM-US 6 2766621 2766621 single base substitution C G synonymous_variant L255L 765C>G SKCM-US 6 2766621 2766621 single base substitution C G synonymous_variant L35L 105C>G SKCM-US 6 2766621 2766621 single base substitution C G upstream_gene_variant SKCM-US 6 2768977 2768977 single base substitution T A missense_variant F292Y 875T>A SKCM-US 6 2768977 2768977 single base substitution T A missense_variant F72Y 215T>A SKCM-US 6 2768977 2768977 single base substitution T A upstream_gene_variant SKCM-US 6 2770558 2770558 single base substitution A G missense_variant T187A 559A>G SKCM-US 6 2770558 2770558 single base substitution A G missense_variant T23A 67A>G SKCM-US 6 2770558 2770558 single base substitution A G missense_variant T382A 1144A>G SKCM-US 6 2770558 2770558 single base substitution A G missense_variant T407A 1219A>G SKCM-US 6 2779649 2779649 single base substitution C T missense_variant S250F 749C>T SKCM-US 6 2779649 2779649 single base substitution C T missense_variant S445F 1334C>T SKCM-US 6 2779649 2779649 single base substitution C T missense_variant S470F 1409C>T SKCM-US 6 2779649 2779649 single base substitution C T missense_variant S86F 257C>T SKCM-US 6 2783732 2783732 single base substitution G A missense_variant E143K 427G>A SKCM-US 6 2783732 2783732 single base substitution G A missense_variant E307K 919G>A SKCM-US 6 2783732 2783732 single base substitution G A missense_variant E502K 1504G>A SKCM-US 6 2783732 2783732 single base substitution G A missense_variant E527K 1579G>A SKCM-US 6 2783763 2783763 single base substitution G A missense_variant R153Q 458G>A SKCM-US 6 2783763 2783763 single base substitution G A missense_variant R317Q 950G>A SKCM-US 6 2783763 2783763 single base substitution G A missense_variant R512Q 1535G>A SKCM-US 6 2783763 2783763 single base substitution G A missense_variant R537Q 1610G>A SKCM-US 6 2784557 2784557 single base substitution G T splice_acceptor_variant STAD-US 6 2770510 2770510 single base substitution C T stop_gained R171* 511C>T STAD-US 6 2770510 2770510 single base substitution C T stop_gained R366* 1096C>T STAD-US 6 2770510 2770510 single base substitution C T stop_gained R391* 1171C>T STAD-US 6 2770510 2770510 single base substitution C T stop_gained R7* 19C>T STAD-US 6 2783645 2783645 single base substitution G A missense_variant E114K 340G>A STAD-US 6 2783645 2783645 single base substitution G A missense_variant E278K 832G>A STAD-US 6 2783645 2783645 single base substitution G A missense_variant E473K 1417G>A STAD-US 6 2783645 2783645 single base substitution G A missense_variant E498K 1492G>A STAD-US 6 2785298 2785298 single base substitution T C missense_variant Y210H 628T>C STAD-US 6 2785298 2785298 single base substitution T C missense_variant Y374H 1120T>C STAD-US 6 2785298 2785298 single base substitution T C missense_variant Y569H 1705T>C STAD-US 6 2785298 2785298 single base substitution T C missense_variant Y594H 1780T>C STAD-US 6 2785352 2785352 deletion of <=200bp C - frameshift_variant P228 STAD-US 6 2785352 2785352 deletion of <=200bp C - frameshift_variant P392 STAD-US 6 2785352 2785352 deletion of <=200bp C - frameshift_variant P587 STAD-US 6 2785352 2785352 deletion of <=200bp C - frameshift_variant P612 THCA-SA 6 2766482 2766482 single base substitution A C 5_prime_UTR_variant THCA-SA 6 2766482 2766482 single base substitution A C missense_variant H209P 626A>C THCA-SA 6 2766482 2766482 single base substitution A C upstream_gene_variant UCEC-US 6 2768962 2768962 single base substitution A C missense_variant K287T 860A>C UCEC-US 6 2768962 2768962 single base substitution A C missense_variant K67T 200A>C UCEC-US 6 2768962 2768962 single base substitution A C upstream_gene_variant UCEC-US 6 2769106 2769106 single base substitution A C 5_prime_UTR_variant UCEC-US 6 2769106 2769106 single base substitution A C missense_variant K115T 344A>C UCEC-US 6 2769106 2769106 single base substitution A C missense_variant K335T 1004A>C UCEC-US 6 2770372 2770372 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 6 2770372 2770372 single base substitution G A intron_variant UCEC-US 6 2770372 2770372 single base substitution G A missense_variant V125M 373G>A UCEC-US 6 2770372 2770372 single base substitution G A missense_variant V345M 1033G>A UCEC-US 6 2770469 2770469 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 6 2770469 2770469 single base substitution T C missense_variant L157P 470T>C UCEC-US 6 2770469 2770469 single base substitution T C missense_variant L352P 1055T>C UCEC-US 6 2770469 2770469 single base substitution T C missense_variant L377P 1130T>C UCEC-US 6 2770553 2770553 single base substitution G A missense_variant R185H 554G>A UCEC-US 6 2770553 2770553 single base substitution G A missense_variant R21H 62G>A UCEC-US 6 2770553 2770553 single base substitution G A missense_variant R380H 1139G>A UCEC-US 6 2770553 2770553 single base substitution G A missense_variant R405H 1214G>A UCEC-US 6 2779576 2779576 single base substitution G A missense_variant G226R 676G>A UCEC-US 6 2779576 2779576 single base substitution G A missense_variant G421R 1261G>A UCEC-US 6 2779576 2779576 single base substitution G A missense_variant G446R 1336G>A UCEC-US 6 2779576 2779576 single base substitution G A missense_variant G62R 184G>A UCEC-US 6 2779674 2779674 single base substitution G T missense_variant E258D 774G>T UCEC-US 6 2779674 2779674 single base substitution G T missense_variant E453D 1359G>T UCEC-US 6 2779674 2779674 single base substitution G T missense_variant E478D 1434G>T UCEC-US 6 2779674 2779674 single base substitution G T missense_variant E94D 282G>T UCEC-US 6 2783702 2783702 single base substitution G A missense_variant A133T 397G>A UCEC-US 6 2783702 2783702 single base substitution G A missense_variant A297T 889G>A UCEC-US 6 2783702 2783702 single base substitution G A missense_variant A492T 1474G>A UCEC-US 6 2783702 2783702 single base substitution G A missense_variant A517T 1549G>A UCEC-US 6 2785346 2785346 single base substitution C A missense_variant P226T 676C>A UCEC-US 6 2785346 2785346 single base substitution C A missense_variant P390T 1168C>A UCEC-US 6 2785346 2785346 single base substitution C A missense_variant P585T 1753C>A UCEC-US 6 2785346 2785346 single base substitution C A missense_variant P610T 1828C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-E2-A10A-01 COSM451088 c.1871G>A p.R624K Substitution - Missense 6:2785155-2785155 + HCC109T COSM1621325 c.1285G>A p.V429I Substitution - Missense 6:2779291-2779291 + TARGET-30-PASMNT COSM1288974 c.1312G>A p.G438S Substitution - Missense 6:2779318-2779318 + PR-02-1899 COSM248358 c.1349C>T p.A450V Substitution - Missense 6:2779355-2779355 + RKO COSM3249273 c.921T>A p.D307E Substitution - Missense 6:2768789-2768789 + TCGA-D9-A1JW-06 COSM3623651 c.1643-1G>T p.? Unknown 6:2784323-2784323 + TCGA-HU-A4GN-01 COSM3861101 c.1492G>A p.E498K Substitution - Missense 6:2783411-2783411 + TCGA-EE-A2GJ-06 COSM3623636 c.1219A>G p.T407A Substitution - Missense 6:2770324-2770324 + 90624 COSM329699 c.8delT p.V3fs*24 Deletion - Frameshift 6:2765630-2765630 + PD3989a COSM165617 c.1560C>T p.Y520Y Substitution - coding silent 6:2783479-2783479 + TCGA-AO-A12E-01 COSM3829877 c.1027C>T p.P343S Substitution - Missense 6:2770132-2770132 + TCGA-D1-A167-01 COSM1076977 c.1549G>A p.A517T Substitution - Missense 6:2783468-2783468 + PTC-73C COSM4160465 c.609T>C p.S203S Substitution - coding silent 6:2766231-2766231 + 35M COSM5583065 c.1082C>T p.S361F Substitution - Missense 6:2770187-2770187 + SW48 COSM3249279 c.1160C>T p.T387I Substitution - Missense 6:2770265-2770265 + TCGA-BR-4184-01 COSM3861104 c.1780T>C p.Y594H Substitution - Missense 6:2785064-2785064 + C80 COSM4619863 c.765C>T p.L255L Substitution - coding silent 6:2766387-2766387 + HN_62421 COSM130230 c.934G>A p.A312T Substitution - Missense 6:2768802-2768802 + TCGA-DK-A3IU-01 COSM3777407 c.987G>A p.E329E Substitution - coding silent 6:2768855-2768855 + YUFERY COSM5405017 c.1686C>T p.Y562Y Substitution - coding silent 6:2784367-2784367 + TCGA-C5-A1MF-01 COSM4820723 c.801G>T p.W267C Substitution - Missense 6:2766423-2766423 + 8031544 COSM4781565 c.253A>C p.T85P Substitution - Missense 6:2765875-2765875 + SK-OV-3 COSM1672201 c.1286T>C p.V429A Substitution - Missense 6:2779292-2779292 + T3204 COSM4741467 c.488_490delAGG p.E167delE Deletion - In frame 6:2766110-2766112 + 587226 COSM1232853 c.1870A>G p.R624G Substitution - Missense 6:2785154-2785154 + TCGA-AP-A051-01 COSM1076952 c.1214G>A p.R405H Substitution - Missense 6:2770319-2770319 + LUAD-NYU1219 COSM370180 c.1923C>G p.Y641* Substitution - Nonsense 6:2785207-2785207 + PTC-28C COSM4160464 c.453C>T p.S151S Substitution - coding silent 6:2766075-2766075 + RK267_C01 COSM4946382 c.1387A>T p.K463* Substitution - Nonsense 6:2779393-2779393 + TCGA-KK-A6E7-01 COSM3249277 c.1032C>T p.H344H Substitution - coding silent 6:2770137-2770137 + SJBALL247_D COSM4994243 c.301G>A p.D101N Substitution - Missense 6:2765923-2765923 + ESO-167 COSM1270528 c.1049T>A p.I350N Substitution - Missense 6:2770154-2770154 + 2492722 COSM5723812 c.388C>T p.R130C Substitution - Missense 6:2766010-2766010 + PD11339a COSM5776216 c.653T>G p.I218S Substitution - Missense 6:2766275-2766275 + PD3989a COSM165617 c.1560C>T p.Y520Y Substitution - coding silent 6:2783479-2783479 + 2250152 COSM5029916 c.449G>A p.G150E Substitution - Missense 6:2766071-2766071 + BD114T COSM5503066 c.1112G>A p.R371H Substitution - Missense 6:2770217-2770217 + 2492721 COSM5723812 c.388C>T p.R130C Substitution - Missense 6:2766010-2766010 + 587400 COSM1232855 c.25G>A p.D9N Substitution - Missense 6:2765647-2765647 + 4000_T COSM3948908 c.712G>A p.D238N Substitution - Missense 6:2766334-2766334 + CSCC-49-T COSM4529076 c.1583G>A p.G528E Substitution - Missense 6:2783502-2783502 + TCGA-EE-A29A-06 COSM3623649 c.1579G>A p.E527K Substitution - Missense 6:2783498-2783498 + LUAD-D02185 COSM338807 c.1300T>A p.Y434N Substitution - Missense 6:2779306-2779306 + LC_C18 COSM1186932 c.169G>C p.A57P Substitution - Missense 6:2765791-2765791 + TCGA-BS-A0UF-01 COSM1076949 c.1004A>C p.K335T Substitution - Missense 6:2768872-2768872 + 758-2041-01TD COSM146238 c.1014+2T>A p.? Unknown 6:2768884-2768884 + 6115114 COSM5549565 c.1673C>T p.A558V Substitution - Missense 6:2784354-2784354 + TCGA-D1-A17Q-01 COSM1076964 c.1434G>T p.E478D Substitution - Missense 6:2779440-2779440 + ESCC_11 COSM5624619 c.1512C>T p.S504S Substitution - coding silent 6:2783431-2783431 + 61 COSM5737461 c.95T>A p.I32N Substitution - Missense 6:2765717-2765717 + S02248 COSM5679794 c.1328G>T p.G443V Substitution - Missense 6:2779334-2779334 + PTC-10C COSM4160462 c.276C>T p.S92S Substitution - coding silent 6:2765898-2765898 + PT51 COSM5938174 c.1078C>T p.P360S Substitution - Missense 6:2770183-2770183 + RMS77_ COSM4988494 c.552C>A p.D184E Substitution - Missense 6:2766174-2766174 + TCGA-24-1560-01 COSM78779 c.1651G>A p.D551N Substitution - Missense 6:2784332-2784332 + TCGA-D8-A1JK-01 COSM1076949 c.1004A>C p.K335T Substitution - Missense 6:2768872-2768872 + QC2-03-T2 COSM5651713 c.1024C>T p.L342F Substitution - Missense 6:2770129-2770129 + MO_1014 COSM5553945 c.1022T>A p.F341Y Substitution - Missense 6:2770127-2770127 + TCGA-BP-5196-01 COSM483780 c.1662G>A p.A554A Substitution - coding silent 6:2784343-2784343 + TP_2020 COSM5564977 c.632G>C p.R211P Substitution - Missense 6:2766254-2766254 + HCC109 COSM1621325 c.1285G>A p.V429I Substitution - Missense 6:2779291-2779291 + CRC-19T COSM5482040 c.749C>T p.T250I Substitution - Missense 6:2766371-2766371 + PTC-10C COSM4160463 c.288T>C p.G96G Substitution - coding silent 6:2765910-2765910 + TCGA-FS-A1ZA-06 COSM3623634 c.765C>G p.L255L Substitution - coding silent 6:2766387-2766387 + 587332 COSM1232854 c.1861G>A p.A621T Substitution - Missense 6:2785145-2785145 + TCGA-EK-A3GK-01 COSM4853090 c.1980C>T p.F660F Substitution - coding silent 6:2785264-2785264 + HT115 COSM3249280 c.1171C>T p.R391* Substitution - Nonsense 6:2770276-2770276 + 8062308 COSM84956 c.1633G>A p.E545K Substitution - Missense 6:2783552-2783552 + PCSI_0049_Pa_X COSM1076963 c.1336G>A p.G446R Substitution - Missense 6:2779342-2779342 + 2492720 COSM5723812 c.388C>T p.R130C Substitution - Missense 6:2766010-2766010 + TCGA-EE-A29N-06 COSM3623635 c.875T>A p.F292Y Substitution - Missense 6:2768743-2768743 + 3N09-VS-3T09 COSM4979278 c.1800C>T p.V600V Substitution - coding silent 6:2785084-2785084 + 587400 COSM1232856 c.446C>A p.A149E Substitution - Missense 6:2766068-2766068 + TCGA-JX-A3PZ-01 COSM4823808 c.1317C>T p.D439D Substitution - coding silent 6:2779323-2779323 + TCGA-AA-3510-01 COSM1442703 c.878T>C p.V293A Substitution - Missense 6:2768746-2768746 + TCGA-AN-A0AS-01 COSM451087 c.1812G>A p.L604L Substitution - coding silent 6:2785096-2785096 + Pa14C COSM84956 c.1633G>A p.E545K Substitution - Missense 6:2783552-2783552 + CRC-03T COSM5451857 c.1220C>T p.T407I Substitution - Missense 6:2770325-2770325 + 2492723 COSM5723812 c.388C>T p.R130C Substitution - Missense 6:2766010-2766010 + TCGA-BP-4766-01 COSM3774199 c.863A>G p.H288R Substitution - Missense 6:2768731-2768731 + XHDG25 COSM4769077 c.1902C>T p.G634G Substitution - coding silent 6:2785186-2785186 + ESCC_BICR_042T COSM5443860 c.347C>T p.T116I Substitution - Missense 6:2765969-2765969 + 2293782 COSM4609222 c.855C>A p.S285R Substitution - Missense 6:2768723-2768723 + Pat_59_B COSM5869932 c.677C>T p.P226L Substitution - Missense 6:2766299-2766299 + S01022 COSM5666114 c.1414A>G p.S472G Substitution - Missense 6:2779420-2779420 + ESCC-184T COSM3941694 c.1042G>T p.G348W Substitution - Missense 6:2770147-2770147 + TCGA-AP-A051-01 COSM1076985 c.1828C>A p.P610T Substitution - Missense 6:2785112-2785112 + PTC_441 COSM5957380 c.626A>C p.H209P Substitution - Missense 6:2766248-2766248 + S02360 COSM5696251 c.767T>G p.L256R Substitution - Missense 6:2766389-2766389 + PTC-515C COSM4160465 c.609T>C p.S203S Substitution - coding silent 6:2766231-2766231 + TCGA-B5-A11E-01 COSM1076948 c.860A>C p.K287T Substitution - Missense 6:2768728-2768728 + TCGA-AP-A051-01 COSM1076963 c.1336G>A p.G446R Substitution - Missense 6:2779342-2779342 + TCGA-A5-A0GA-01 COSM1076951 c.1130T>C p.L377P Substitution - Missense 6:2770235-2770235 + ESO-327 COSM1270529 c.1073A>C p.E358A Substitution - Missense 6:2770178-2770178 + LIM2405 COSM4643078 c.720C>A p.F240L Substitution - Missense 6:2766342-2766342 + AOCS-078-1-9 COSM4153181 c.720C>T p.F240F Substitution - coding silent 6:2766342-2766342 + Pat_16_A COSM5869939 c.1585G>A p.G529R Substitution - Missense 6:2783504-2783504 + T166 COSM307593 c.1777G>A p.V593M Substitution - Missense 6:2785061-2785061 + Pat_45_B COSM5869936 c.1257-1G>A p.? Unknown 6:2779262-2779262 + GC_383T-GC_383N COSM4774289 c.436G>A p.A146T Substitution - Missense 6:2766058-2766058 + 758 COSM146238 c.1014+2T>A p.? Unknown 6:2768884-2768884 + TCGA-06-5858-01 COSM3410859 c.1179C>T p.I393I Substitution - coding silent 6:2770284-2770284 + TCGA-EE-A2MI-06 COSM3623650 c.1610G>A p.R537Q Substitution - Missense 6:2783529-2783529 + Pat_40_B COSM5869933 c.694C>T p.R232C Substitution - Missense 6:2766316-2766316 + TCGA-BR-8680-01 COSM3249280 c.1171C>T p.R391* Substitution - Nonsense 6:2770276-2770276 + TCGA-UC-A7PF-01 COSM4830339 c.1332G>A p.L444L Substitution - coding silent 6:2779338-2779338 + TP_2020 COSM5564955 c.619C>G p.R207G Substitution - Missense 6:2766241-2766241 + TCGA-EB-A41A-01 COSM3623641 c.1409C>T p.S470F Substitution - Missense 6:2779415-2779415 + MOLT-4 COSM1672200 c.968C>A p.T323N Substitution - Missense 6:2768836-2768836 + TCGA-B5-A0JY-01 COSM1076950 c.1033G>A p.V345M Substitution - Missense 6:2770138-2770138 + TCGA-13-1494-01 COSM115872 c.1775A>T p.E592V Substitution - Missense 6:2785059-2785059 + 8068556 COSM4408218 c.1125T>C p.I375I Substitution - coding silent 6:2770230-2770230 + HCA7 COSM4631087 c.82C>T p.P28S Substitution - Missense 6:2765704-2765704 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.236828 6p25.2 608196 2409218|CGAP|BC018923|G/T|non-coding||2194|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.E358A c.1073A>C 6 2770412 ESCA A C Missense p.K335T c.1004A>C 6 2769106 BRCA AGG - InFrameDeletion p.E167delE c.500_502delAGG 6 2766344 BLCA A G Missense p.T340A c.1018A>G 6 2770357 COREAD A G Missense p.T407A c.1219A>G 6 2770558 CM A T Missense p.E592V c.1775A>T 6 2785293 OV C A Missense p.R405S c.1213C>A 6 2770552 LUAD - C Frameshift p.L533Tfs*40 c.1595dupC 6 2783746 STAD C G Synonymous p.L255L c.765C>G 6 2766621 CM C T Synonymous p.H344H c.1032C>T 6 2770371 PRAD C T Synonymous p.Y520Y c.1560C>T 6 2783713 BRCA CT TC Missense p.A433V c.1298_1299delinsTC 6 2779538 CM G A Missense p.A312T c.934G>A 6 2769036 HNSC G A Missense p.A433T c.1297G>A 6 2779537 HNSC G A Missense p.D551N c.1651G>A 6 2784566 OV G A Missense p.E527K c.1579G>A 6 2783732 CM G A Missense p.E545K c.1633G>A 6 2783786 PAAD G A Missense p.G438S c.1312G>A 6 2779552 NB G A Missense p.R537Q c.1610G>A 6 2783763 CM G A Missense p.R624K c.1871G>A 6 2785389 BRCA G A Synonymous p.A554A c.1662G>A 6 2784577 RCCC G A Synonymous p.E329E c.987G>A 6 2769089 BLCA G A Synonymous p.L604L c.1812G>A 6 2785330 BRCA - G Frameshift p.R207Pfs*28 c.617dupG 6 2766469 LUSC - GGGG Frameshift p.R207Gfs*29 c.614_617dupGGGG 6 2766469 HNSC G T SpliceAcceptorSNV . c.1643-1G>T 6 2784557 CM T A Missense p.F292Y c.875T>A 6 2768977 CM T A Missense p.I350N c.1049T>A 6 2770388 ESCA TC AG Missense p.F659* c.1976_1977delinsAG 6 2785494 CM T C Missense p.L377P c.1130T>C 6 2770469 UCEC TGAT - Frameshift p.I375Ffs*7 c.1123_1126delATTG 6 2770460 LGG