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 20 49354431 49354431 + Nonsense_Mutation SNP C C G TCGA-G2-AA3D-01A-11D-A391-08 TCGA-G2-AA3D-10A-01D-A394-08 g.chr20:49354431C>G c.104C>G c.(103-105)tCa>tGa p.S35* BLCA 20 49354448 49354448 + Missense_Mutation SNP G G C TCGA-4Z-AA7Y-01A-11D-A391-08 TCGA-4Z-AA7Y-10A-01D-A394-08 g.chr20:49354448G>C c.121G>C c.(121-123)Gag>Cag p.E41Q BLCA 20 49354553 49354553 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 g.chr20:49354553G>A c.226G>A c.(226-228)Gat>Aat p.D76N BLCA 20 49366789 49366789 + Missense_Mutation SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 g.chr20:49366789G>T c.883G>T c.(883-885)Gac>Tac p.D295Y BLCA 20 49366916 49366916 + Missense_Mutation SNP C C G TCGA-FD-A6TF-01A-52D-A32B-08 TCGA-FD-A6TF-10A-21D-A329-08 g.chr20:49366916C>G c.1010C>G c.(1009-1011)tCt>tGt p.S337C BRCA 20 49366477 49366477 + Missense_Mutation SNP G G C TCGA-A8-A09M-01A-11W-A019-09 TCGA-A8-A09M-10A-01W-A021-09 g.chr20:49366477G>C c.571G>C c.(571-573)Ggg>Cgg p.G191R BRCA 20 49366546 49366546 + Missense_Mutation SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 g.chr20:49366546G>A c.640G>A c.(640-642)Gaa>Aaa p.E214K CESC 20 49366649 49366649 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 g.chr20:49366649C>T c.743C>T c.(742-744)cCg>cTg p.P248L CESC 20 49366912 49366912 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr20:49366912C>T c.1006C>T c.(1006-1008)Ccc>Tcc p.P336S COAD 20 49354539 49354539 + Missense_Mutation SNP C C A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr20:49354539C>A c.212C>A c.(211-213)cCt>cAt p.P71H COAD 20 49366260 49366260 + Silent SNP C C T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr20:49366260C>T c.354C>T c.(352-354)aaC>aaT p.N118N COAD 20 49366373 49366373 + Missense_Mutation SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr20:49366373G>A c.467G>A c.(466-468)cGt>cAt p.R156H COADREAD 20 49354539 49354539 + Missense_Mutation SNP C C A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr20:49354539C>A c.212C>A c.(211-213)cCt>cAt p.P71H COADREAD 20 49366260 49366260 + Silent SNP C C T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr20:49366260C>T c.354C>T c.(352-354)aaC>aaT p.N118N COADREAD 20 49366373 49366373 + Missense_Mutation SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr20:49366373G>A c.467G>A c.(466-468)cGt>cAt p.R156H DLBC 20 49366879 49366879 + Silent SNP C C T TCGA-G8-6906-01A-11D-2210-10 TCGA-G8-6906-14A-01D-2210-10 g.chr20:49366879C>T c.973C>T c.(973-975)Cta>Tta p.L325L ESCA 20 49366851 49366851 + Missense_Mutation SNP G G C TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 g.chr20:49366851G>C c.945G>C c.(943-945)gaG>gaC p.E315D ESCA 20 49367006 49367006 + Missense_Mutation SNP G G A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 g.chr20:49367006G>A c.1100G>A c.(1099-1101)gGa>gAa p.G367E GBM 20 49366649 49366649 + Missense_Mutation SNP C C T TCGA-06-0173-01A-01D-1491-08 TCGA-06-0173-10B-01D-1491-08 g.chr20:49366649C>T c.743C>T c.(742-744)cCg>cTg p.P248L GBM 20 49366651 49366651 + Missense_Mutation SNP G G A TCGA-06-5418-01A-01D-1486-08 TCGA-06-5418-10A-01D-1486-08 g.chr20:49366651G>A c.745G>A c.(745-747)Gca>Aca p.A249T GBMLGG 20 49354410 49354410 + Missense_Mutation SNP G G A TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 g.chr20:49354410G>A c.83G>A c.(82-84)cGt>cAt p.R28H GBMLGG 20 49366352 49366352 + Missense_Mutation SNP A A G TCGA-WY-A858-01A-11D-A36O-08 TCGA-WY-A858-10A-01D-A367-08 g.chr20:49366352A>G c.446A>G c.(445-447)gAt>gGt p.D149G GBMLGG 20 49366587 49366587 + Silent SNP C C T TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 g.chr20:49366587C>T c.681C>T c.(679-681)agC>agT p.S227S GBMLGG 20 49366649 49366649 + Missense_Mutation SNP C C T TCGA-06-0173-01A-01D-1491-08 TCGA-06-0173-10B-01D-1491-08 g.chr20:49366649C>T c.743C>T c.(742-744)cCg>cTg p.P248L GBMLGG 20 49366651 49366651 + Missense_Mutation SNP G G A TCGA-06-5418-01A-01D-1486-08 TCGA-06-5418-10A-01D-1486-08 g.chr20:49366651G>A c.745G>A c.(745-747)Gca>Aca p.A249T HNSC 20 49354499 49354499 + Missense_Mutation SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 g.chr20:49354499G>A c.172G>A c.(172-174)Gtt>Att p.V58I KIPAN 20 49354458 49354458 + Missense_Mutation SNP A A G TCGA-GL-A9DE-01A-11D-A36X-10 TCGA-GL-A9DE-10A-01D-A370-10 g.chr20:49354458A>G c.131A>G c.(130-132)tAt>tGt p.Y44C KIPAN 20 49354467 49354467 + Missense_Mutation SNP T T C TCGA-B9-A8YI-01A-21D-A36X-10 TCGA-B9-A8YI-10A-01D-A370-10 g.chr20:49354467T>C c.140T>C c.(139-141)cTa>cCa p.L47P KIPAN 20 49354557 49354557 + Missense_Mutation SNP A A C TCGA-2Z-A9JG-01A-11D-A42J-10 TCGA-2Z-A9JG-10A-01D-A42M-10 g.chr20:49354557A>C c.230A>C c.(229-231)aAt>aCt p.N77T KIPAN 20 49366295 49366295 + Missense_Mutation SNP A A G TCGA-A4-7584-01A-11D-2136-08 TCGA-A4-7584-10A-01D-2136-08 g.chr20:49366295A>G c.389A>G c.(388-390)cAt>cGt p.H130R KIPAN 20 49366295 49366295 + Missense_Mutation SNP A A G TCGA-B0-5702-01A-11D-1534-10 TCGA-B0-5702-11A-01D-1534-10 g.chr20:49366295A>G c.389A>G c.(388-390)cAt>cGt p.H130R KIPAN 20 49366607 49366607 + Missense_Mutation SNP T T C TCGA-BQ-5886-01A-11D-1589-08 TCGA-BQ-5886-11A-01D-1589-08 g.chr20:49366607T>C c.701T>C c.(700-702)aTg>aCg p.M234T KIPAN 20 49366663 49366664 + Frame_Shift_Del DEL AA AA - TCGA-BP-5007-01A-01D-1462-08 TCGA-BP-5007-11A-01D-1462-08 g.chr20:49366663_49366664delAA c.757_758delAA c.(757-759)aatfs p.N254fs KIPAN 20 49366983 49366991 + In_Frame_Del DEL TCAAAAACT TCAAAAACT - TCGA-BQ-7044-01A-11D-1961-08 TCGA-BQ-7044-11A-01D-1961-08 g.chr20:49366983_49366991delTCAAAAACT c.1077_1085delTCAAAAACT c.(1075-1086)gatcaaaaactc>gac p.QKL360del KIPAN 20 49367001 49367001 + Missense_Mutation SNP A A T TCGA-B0-5694-01A-11D-1534-10 TCGA-B0-5694-11A-01D-1534-10 g.chr20:49367001A>T c.1095A>T c.(1093-1095)gaA>gaT p.E365D KIPAN 20 49367004 49367004 + Silent SNP T T C TCGA-BP-4960-01A-01D-1462-08 TCGA-BP-4960-11A-01D-1462-08 g.chr20:49367004T>C c.1098T>C c.(1096-1098)gaT>gaC p.D366D KIPAN 20 49367023 49367023 + Nonstop_Mutation SNP T T C TCGA-A4-7286-01A-11D-2136-08 TCGA-A4-7286-10A-01D-2136-08 g.chr20:49367023T>C c.1117T>C c.(1117-1119)Tga>Cga p.*373R KIRC 20 49366295 49366295 + Missense_Mutation SNP A A G TCGA-B0-5702-01A-11D-1534-10 TCGA-B0-5702-11A-01D-1534-10 g.chr20:49366295A>G c.389A>G c.(388-390)cAt>cGt p.H130R KIRC 20 49366663 49366664 + Frame_Shift_Del DEL AA AA - TCGA-BP-5007-01A-01D-1462-08 TCGA-BP-5007-11A-01D-1462-08 g.chr20:49366663_49366664delAA c.757_758delAA c.(757-759)aatfs p.N254fs KIRC 20 49367001 49367001 + Missense_Mutation SNP A A T TCGA-B0-5694-01A-11D-1534-10 TCGA-B0-5694-11A-01D-1534-10 g.chr20:49367001A>T c.1095A>T c.(1093-1095)gaA>gaT p.E365D KIRC 20 49367004 49367004 + Silent SNP T T C TCGA-BP-4960-01A-01D-1462-08 TCGA-BP-4960-11A-01D-1462-08 g.chr20:49367004T>C c.1098T>C c.(1096-1098)gaT>gaC p.D366D KIRP 20 49354458 49354458 + Missense_Mutation SNP A A G TCGA-GL-A9DE-01A-11D-A36X-10 TCGA-GL-A9DE-10A-01D-A370-10 g.chr20:49354458A>G c.131A>G c.(130-132)tAt>tGt p.Y44C KIRP 20 49354467 49354467 + Missense_Mutation SNP T T C TCGA-B9-A8YI-01A-21D-A36X-10 TCGA-B9-A8YI-10A-01D-A370-10 g.chr20:49354467T>C c.140T>C c.(139-141)cTa>cCa p.L47P KIRP 20 49354557 49354557 + Missense_Mutation SNP A A C TCGA-2Z-A9JG-01A-11D-A42J-10 TCGA-2Z-A9JG-10A-01D-A42M-10 g.chr20:49354557A>C c.230A>C c.(229-231)aAt>aCt p.N77T KIRP 20 49366295 49366295 + Missense_Mutation SNP A A G TCGA-A4-7584-01A-11D-2136-08 TCGA-A4-7584-10A-01D-2136-08 g.chr20:49366295A>G c.389A>G c.(388-390)cAt>cGt p.H130R KIRP 20 49366607 49366607 + Missense_Mutation SNP T T C TCGA-BQ-5886-01A-11D-1589-08 TCGA-BQ-5886-11A-01D-1589-08 g.chr20:49366607T>C c.701T>C c.(700-702)aTg>aCg p.M234T KIRP 20 49366983 49366991 + In_Frame_Del DEL TCAAAAACT TCAAAAACT - TCGA-BQ-7044-01A-11D-1961-08 TCGA-BQ-7044-11A-01D-1961-08 g.chr20:49366983_49366991delTCAAAAACT c.1077_1085delTCAAAAACT c.(1075-1086)gatcaaaaactc>gac p.QKL360del KIRP 20 49367023 49367023 + Nonstop_Mutation SNP T T C TCGA-A4-7286-01A-11D-2136-08 TCGA-A4-7286-10A-01D-2136-08 g.chr20:49367023T>C c.1117T>C c.(1117-1119)Tga>Cga p.*373R LGG 20 49354410 49354410 + Missense_Mutation SNP G G A TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 g.chr20:49354410G>A c.83G>A c.(82-84)cGt>cAt p.R28H LGG 20 49366352 49366352 + Missense_Mutation SNP A A G TCGA-WY-A858-01A-11D-A36O-08 TCGA-WY-A858-10A-01D-A367-08 g.chr20:49366352A>G c.446A>G c.(445-447)gAt>gGt p.D149G LGG 20 49366587 49366587 + Silent SNP C C T TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 g.chr20:49366587C>T c.681C>T c.(679-681)agC>agT p.S227S LIHC 20 49366413 49366413 + Silent SNP A A T TCGA-DD-AACL-01A-11D-A40R-10 TCGA-DD-AACL-10A-01D-A40U-10 g.chr20:49366413A>T c.507A>T c.(505-507)ctA>ctT p.L169L LUAD 20 49366455 49366455 + Silent SNP A A G TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 g.chr20:49366455A>G c.549A>G c.(547-549)ccA>ccG p.P183P LUAD 20 49366697 49366697 + Missense_Mutation SNP G G T TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chr20:49366697G>T c.791G>T c.(790-792)aGt>aTt p.S264I LUAD 20 49366767 49366767 + Missense_Mutation SNP G G T TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr20:49366767G>T c.861G>T c.(859-861)gaG>gaT p.E287D LUAD 20 49366952 49366952 + Missense_Mutation SNP C C T TCGA-49-6743-01A-11D-1855-08 TCGA-49-6743-11A-01D-1855-08 g.chr20:49366952C>T c.1046C>T c.(1045-1047)tCa>tTa p.S349L LUAD 20 49366995 49366997 + In_Frame_Del DEL AGA AGA - TCGA-35-5375-01A-01D-1625-08 TCGA-35-5375-10A-01D-1625-08 g.chr20:49366995_49366997delAGA c.1089_1091delAGA c.(1087-1092)ttagaa>tta p.E365del PRAD 20 49354420 49354420 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr20:49354420G>A c.93G>A c.(91-93)tcG>tcA p.S31S SARC 20 49366862 49366862 + Missense_Mutation SNP C C T TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 g.chr20:49366862C>T c.956C>T c.(955-957)tCa>tTa p.S319L SKCM 20 49354422 49354422 + Missense_Mutation SNP T T A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr20:49354422T>A c.95T>A c.(94-96)cTg>cAg p.L32Q SKCM 20 49354562 49354562 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr20:49354562C>T c.235C>T c.(235-237)Cac>Tac p.H79Y SKCM 20 49366359 49366359 + Silent SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr20:49366359C>T c.453C>T c.(451-453)ctC>ctT p.L151L SKCM 20 49366992 49366992 + Silent SNP C C T TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr20:49366992C>T c.1086C>T c.(1084-1086)ctC>ctT p.L362L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 20 49366406 49366406 single base substitution A T intron_variant BLCA-CN 20 49366406 49366406 single base substitution A T missense_variant K167I 500A>T BLCA-US 20 49354553 49354553 single base substitution G A missense_variant D76N 226G>A BRCA-EU 20 49343265 49343265 single base substitution G A upstream_gene_variant BRCA-EU 20 49343455 49343455 single base substitution C G upstream_gene_variant BRCA-EU 20 49343852 49343852 single base substitution C G upstream_gene_variant BRCA-EU 20 49344022 49344022 single base substitution G C upstream_gene_variant BRCA-EU 20 49344377 49344377 single base substitution C T upstream_gene_variant BRCA-EU 20 49344421 49344421 single base substitution G A upstream_gene_variant BRCA-EU 20 49344862 49344862 single base substitution T A upstream_gene_variant BRCA-EU 20 49345567 49345567 single base substitution C T upstream_gene_variant BRCA-EU 20 49347673 49347673 single base substitution G C upstream_gene_variant BRCA-EU 20 49347687 49347687 single base substitution C T upstream_gene_variant BRCA-EU 20 49347762 49347762 single base substitution C G upstream_gene_variant BRCA-EU 20 49348516 49348516 single base substitution C T intron_variant BRCA-EU 20 49349659 49349659 single base substitution A G intron_variant BRCA-EU 20 49349795 49349795 deletion of <=200bp A - intron_variant BRCA-EU 20 49351246 49351246 single base substitution C G intron_variant BRCA-EU 20 49351522 49351522 single base substitution A C intron_variant BRCA-EU 20 49351638 49351638 single base substitution G A intron_variant BRCA-EU 20 49353249 49353249 deletion of <=200bp C - intron_variant BRCA-EU 20 49354815 49354815 single base substitution T C intron_variant BRCA-EU 20 49354948 49354948 single base substitution C T intron_variant BRCA-EU 20 49355407 49355407 insertion of <=200bp - C intron_variant BRCA-EU 20 49355867 49355867 single base substitution C A intron_variant BRCA-EU 20 49357161 49357161 single base substitution G C intron_variant BRCA-EU 20 49357438 49357438 single base substitution C A intron_variant BRCA-EU 20 49358629 49358629 single base substitution A T intron_variant BRCA-EU 20 49359318 49359318 single base substitution T G intron_variant BRCA-EU 20 49359521 49359521 single base substitution G C intron_variant BRCA-EU 20 49359714 49359714 single base substitution A G intron_variant BRCA-EU 20 49360372 49360372 single base substitution G T intron_variant BRCA-EU 20 49360581 49360581 single base substitution C G intron_variant BRCA-EU 20 49360658 49360658 insertion of <=200bp - TC intron_variant BRCA-EU 20 49362415 49362415 single base substitution T G intron_variant BRCA-EU 20 49364072 49364072 single base substitution G A intron_variant BRCA-EU 20 49365197 49365197 single base substitution G A intron_variant BRCA-EU 20 49365554 49365555 deletion of <=200bp AA - intron_variant BRCA-EU 20 49366083 49366086 deletion of <=200bp GTTT - intron_variant BRCA-EU 20 49366465 49366465 single base substitution G C intron_variant BRCA-EU 20 49366465 49366465 single base substitution G C missense_variant E187Q 559G>C BRCA-EU 20 49366594 49366594 single base substitution C T intron_variant BRCA-EU 20 49366594 49366594 single base substitution C T stop_gained Q230* 688C>T BRCA-EU 20 49366686 49366690 deletion of <=200bp GACTT - frameshift_variant RTS260 BRCA-EU 20 49366686 49366690 deletion of <=200bp GACTT - intron_variant BRCA-EU 20 49366770 49366793 deletion of <=200bp TGAAGACAGCGAAGAAGATGACAT - inframe_deletion DEDSEEDDI288D BRCA-EU 20 49366770 49366793 deletion of <=200bp TGAAGACAGCGAAGAAGATGACAT - intron_variant BRCA-EU 20 49368844 49368844 single base substitution G A 3_prime_UTR_variant BRCA-EU 20 49368844 49368844 single base substitution G A intron_variant BRCA-EU 20 49369132 49369132 single base substitution A G 3_prime_UTR_variant BRCA-EU 20 49369132 49369132 single base substitution A G intron_variant BRCA-EU 20 49370108 49370108 single base substitution C T 3_prime_UTR_variant BRCA-EU 20 49370108 49370108 single base substitution C T intron_variant BRCA-EU 20 49370448 49370448 single base substitution A G downstream_gene_variant BRCA-EU 20 49370448 49370448 single base substitution A G intron_variant BRCA-EU 20 49370985 49370985 insertion of <=200bp - A downstream_gene_variant BRCA-EU 20 49370985 49370985 insertion of <=200bp - A intron_variant BRCA-EU 20 49371357 49371357 single base substitution G C downstream_gene_variant BRCA-EU 20 49371357 49371357 single base substitution G C intron_variant BRCA-EU 20 49371658 49371658 single base substitution G A downstream_gene_variant BRCA-EU 20 49371658 49371658 single base substitution G A intron_variant BRCA-EU 20 49371662 49371662 single base substitution C T downstream_gene_variant BRCA-EU 20 49371662 49371662 single base substitution C T intron_variant BRCA-EU 20 49371735 49371735 single base substitution C T downstream_gene_variant BRCA-EU 20 49371735 49371735 single base substitution C T intron_variant BRCA-EU 20 49372437 49372437 single base substitution G A downstream_gene_variant BRCA-EU 20 49372437 49372437 single base substitution G A intron_variant BRCA-EU 20 49373096 49373096 single base substitution C G downstream_gene_variant BRCA-EU 20 49373096 49373096 single base substitution C G intron_variant BRCA-EU 20 49373742 49373742 single base substitution G C downstream_gene_variant BRCA-EU 20 49375309 49375309 single base substitution C G downstream_gene_variant BRCA-EU 20 49375578 49375578 single base substitution C T downstream_gene_variant BRCA-EU 20 49375628 49375628 single base substitution C G downstream_gene_variant BRCA-EU 20 49376269 49376275 deletion of <=200bp TTTTTTC - downstream_gene_variant BRCA-EU 20 49376360 49376360 single base substitution C T downstream_gene_variant BRCA-EU 20 49377597 49377597 single base substitution A G downstream_gene_variant BRCA-FR 20 49344421 49344421 single base substitution G A upstream_gene_variant BRCA-FR 20 49347762 49347762 single base substitution C G upstream_gene_variant BRCA-FR 20 49350386 49350386 single base substitution G C intron_variant BRCA-FR 20 49350977 49350977 single base substitution G A intron_variant BRCA-FR 20 49357858 49357858 single base substitution C T intron_variant BRCA-FR 20 49366594 49366594 single base substitution C T intron_variant BRCA-FR 20 49366594 49366594 single base substitution C T stop_gained Q230* 688C>T BRCA-FR 20 49368096 49368096 single base substitution G C 3_prime_UTR_variant BRCA-FR 20 49368096 49368096 single base substitution G C intron_variant BRCA-FR 20 49368425 49368425 single base substitution G A 3_prime_UTR_variant BRCA-FR 20 49368425 49368425 single base substitution G A intron_variant BRCA-FR 20 49368844 49368844 single base substitution G A 3_prime_UTR_variant BRCA-FR 20 49368844 49368844 single base substitution G A intron_variant BRCA-FR 20 49371662 49371662 single base substitution C T downstream_gene_variant BRCA-FR 20 49371662 49371662 single base substitution C T intron_variant BRCA-FR 20 49376520 49376520 single base substitution G T downstream_gene_variant BRCA-UK 20 49343455 49343455 single base substitution C G upstream_gene_variant BRCA-UK 20 49366858 49366858 single base substitution G T intron_variant BRCA-UK 20 49366858 49366858 single base substitution G T stop_gained E318* 952G>T BRCA-UK 20 49366899 49366899 single base substitution G A intron_variant BRCA-UK 20 49366899 49366899 single base substitution G A synonymous_variant Q331Q 993G>A BRCA-UK 20 49378068 49378068 single base substitution C G downstream_gene_variant BRCA-US 20 49366477 49366477 single base substitution G C intron_variant BRCA-US 20 49366477 49366477 single base substitution G C missense_variant G191R 571G>C BRCA-US 20 49366546 49366546 single base substitution G A intron_variant BRCA-US 20 49366546 49366546 single base substitution G A missense_variant E214K 640G>A BTCA-JP 20 49354311 49354311 single base substitution A T intron_variant CESC-US 20 49366649 49366649 single base substitution C T intron_variant CESC-US 20 49366649 49366649 single base substitution C T missense_variant P248L 743C>T CESC-US 20 49366912 49366912 single base substitution C T intron_variant CESC-US 20 49366912 49366912 single base substitution C T missense_variant P336S 1006C>T CLLE-ES 20 49354299 49354299 insertion of <=200bp - G intron_variant COAD-US 20 49354539 49354539 single base substitution C A missense_variant P71H 212C>A COAD-US 20 49366260 49366260 single base substitution C T intron_variant COAD-US 20 49366260 49366260 single base substitution C T synonymous_variant N118N 354C>T COAD-US 20 49366373 49366373 single base substitution G A intron_variant COAD-US 20 49366373 49366373 single base substitution G A missense_variant R156H 467G>A ESAD-UK 20 49344146 49344146 single base substitution G A upstream_gene_variant ESAD-UK 20 49344700 49344700 single base substitution T C upstream_gene_variant ESAD-UK 20 49345786 49345789 deletion of <=200bp CACT - upstream_gene_variant ESAD-UK 20 49347584 49347584 single base substitution C T upstream_gene_variant ESAD-UK 20 49349629 49349629 single base substitution A G intron_variant ESAD-UK 20 49350023 49350039 deletion of <=200bp TTCAGAATTAGTAAGAA - intron_variant ESAD-UK 20 49350192 49350192 single base substitution A G intron_variant ESAD-UK 20 49351273 49351273 single base substitution G A intron_variant ESAD-UK 20 49351813 49351813 single base substitution C T intron_variant ESAD-UK 20 49352213 49352213 single base substitution T C intron_variant ESAD-UK 20 49352610 49352610 single base substitution A G intron_variant ESAD-UK 20 49353092 49353092 single base substitution C T intron_variant ESAD-UK 20 49358302 49358302 single base substitution C T intron_variant ESAD-UK 20 49359048 49359048 single base substitution G A intron_variant ESAD-UK 20 49359458 49359458 single base substitution A G intron_variant ESAD-UK 20 49359546 49359546 insertion of <=200bp - T intron_variant ESAD-UK 20 49360899 49360899 single base substitution C A intron_variant ESAD-UK 20 49361082 49361082 single base substitution C T intron_variant ESAD-UK 20 49361817 49361817 single base substitution C G intron_variant ESAD-UK 20 49364905 49364905 single base substitution G A intron_variant ESAD-UK 20 49365277 49365277 single base substitution C T intron_variant ESAD-UK 20 49368022 49368022 single base substitution A C 3_prime_UTR_variant ESAD-UK 20 49368022 49368022 single base substitution A C intron_variant ESAD-UK 20 49369164 49369167 deletion of <=200bp ATTA - 3_prime_UTR_variant ESAD-UK 20 49369164 49369167 deletion of <=200bp ATTA - intron_variant ESAD-UK 20 49369433 49369433 single base substitution T G 3_prime_UTR_variant ESAD-UK 20 49369433 49369433 single base substitution T G intron_variant ESAD-UK 20 49373101 49373101 insertion of <=200bp - T downstream_gene_variant ESAD-UK 20 49373101 49373101 insertion of <=200bp - T intron_variant ESAD-UK 20 49373919 49373919 single base substitution A T downstream_gene_variant ESCA-CN 20 49369403 49369403 single base substitution C T 3_prime_UTR_variant ESCA-CN 20 49369403 49369403 single base substitution C T intron_variant GBM-US 20 49366649 49366649 single base substitution C T intron_variant GBM-US 20 49366649 49366649 single base substitution C T missense_variant P248L 743C>T GBM-US 20 49366651 49366651 single base substitution G A intron_variant GBM-US 20 49366651 49366651 single base substitution G A missense_variant A249T 745G>A KIRP-US 20 49366295 49366295 single base substitution A G intron_variant KIRP-US 20 49366295 49366295 single base substitution A G missense_variant H130R 389A>G KIRP-US 20 49366607 49366607 single base substitution T C intron_variant KIRP-US 20 49366607 49366607 single base substitution T C missense_variant M234T 701T>C KIRP-US 20 49366983 49366991 deletion of <=200bp TCAAAAACT - disruptive_inframe_deletion DQKL359D KIRP-US 20 49366983 49366991 deletion of <=200bp TCAAAAACT - intron_variant KIRP-US 20 49367023 49367023 single base substitution T C intron_variant KIRP-US 20 49367023 49367023 single base substitution T C stop_lost *373R 1117T>C LICA-CN 20 49366740 49366740 single base substitution G T intron_variant LICA-CN 20 49366740 49366740 single base substitution G T missense_variant Q278H 834G>T LICA-FR 20 49343214 49343214 single base substitution A G upstream_gene_variant LICA-FR 20 49365006 49365006 single base substitution A T intron_variant LICA-FR 20 49374314 49374314 single base substitution A G downstream_gene_variant LICA-FR 20 49375741 49375741 single base substitution C T downstream_gene_variant LINC-JP 20 49345514 49345514 single base substitution T C upstream_gene_variant LINC-JP 20 49351467 49351467 single base substitution A G intron_variant LINC-JP 20 49354935 49354935 single base substitution A G intron_variant LINC-JP 20 49373192 49373192 single base substitution A G downstream_gene_variant LINC-JP 20 49373192 49373192 single base substitution A G intron_variant LIRI-JP 20 49346544 49346544 deletion of <=200bp A - upstream_gene_variant LIRI-JP 20 49346590 49346590 single base substitution A G upstream_gene_variant LIRI-JP 20 49346861 49346861 single base substitution T A upstream_gene_variant LIRI-JP 20 49348805 49348805 single base substitution G A intron_variant LIRI-JP 20 49354268 49354268 single base substitution A G intron_variant LIRI-JP 20 49354623 49354623 single base substitution A G splice_region_variant LIRI-JP 20 49354941 49354941 single base substitution C T intron_variant LIRI-JP 20 49354996 49354996 single base substitution T A intron_variant LIRI-JP 20 49357934 49357934 single base substitution T G intron_variant LIRI-JP 20 49358464 49358464 single base substitution A G intron_variant LIRI-JP 20 49359900 49359900 single base substitution A G intron_variant LIRI-JP 20 49360509 49360509 single base substitution T G intron_variant LIRI-JP 20 49362524 49362524 single base substitution C G intron_variant LIRI-JP 20 49363151 49363151 single base substitution C G intron_variant LIRI-JP 20 49363172 49363172 single base substitution A C intron_variant LIRI-JP 20 49363179 49363179 single base substitution T C intron_variant LIRI-JP 20 49363717 49363717 single base substitution A G intron_variant LIRI-JP 20 49363958 49363960 deletion of <=200bp GGA - intron_variant LIRI-JP 20 49364082 49364082 single base substitution A G intron_variant LIRI-JP 20 49364944 49364944 insertion of <=200bp - T intron_variant LIRI-JP 20 49365899 49365899 single base substitution A G intron_variant LIRI-JP 20 49368123 49368123 single base substitution T G 3_prime_UTR_variant LIRI-JP 20 49368123 49368123 single base substitution T G intron_variant LIRI-JP 20 49370185 49370185 single base substitution A G 3_prime_UTR_variant LIRI-JP 20 49370185 49370185 single base substitution A G intron_variant LIRI-JP 20 49370474 49370474 single base substitution A G downstream_gene_variant LIRI-JP 20 49370474 49370474 single base substitution A G intron_variant LIRI-JP 20 49370728 49370728 single base substitution C G downstream_gene_variant LIRI-JP 20 49370728 49370728 single base substitution C G intron_variant LIRI-JP 20 49372962 49372962 single base substitution A G downstream_gene_variant LIRI-JP 20 49372962 49372962 single base substitution A G intron_variant LIRI-JP 20 49374209 49374209 single base substitution T C downstream_gene_variant LUSC-KR 20 49348990 49348990 single base substitution C T intron_variant LUSC-KR 20 49357858 49357858 single base substitution C T intron_variant LUSC-KR 20 49367076 49367076 single base substitution T G 3_prime_UTR_variant LUSC-KR 20 49367076 49367076 single base substitution T G intron_variant LUSC-KR 20 49368364 49368364 single base substitution G A 3_prime_UTR_variant LUSC-KR 20 49368364 49368364 single base substitution G A intron_variant LUSC-KR 20 49368711 49368711 single base substitution C G 3_prime_UTR_variant LUSC-KR 20 49368711 49368711 single base substitution C G intron_variant LUSC-KR 20 49369006 49369006 single base substitution A G 3_prime_UTR_variant LUSC-KR 20 49369006 49369006 single base substitution A G intron_variant LUSC-KR 20 49369447 49369447 single base substitution G A 3_prime_UTR_variant LUSC-KR 20 49369447 49369447 single base substitution G A intron_variant LUSC-KR 20 49369624 49369624 single base substitution A T 3_prime_UTR_variant LUSC-KR 20 49369624 49369624 single base substitution A T intron_variant LUSC-KR 20 49371512 49371512 single base substitution C T downstream_gene_variant LUSC-KR 20 49371512 49371512 single base substitution C T intron_variant LUSC-KR 20 49372619 49372619 single base substitution G C downstream_gene_variant LUSC-KR 20 49372619 49372619 single base substitution G C intron_variant LUSC-KR 20 49372875 49372875 single base substitution A G downstream_gene_variant LUSC-KR 20 49372875 49372875 single base substitution A G intron_variant LUSC-KR 20 49376499 49376499 single base substitution C T downstream_gene_variant MALY-DE 20 49358486 49358486 single base substitution C T intron_variant MALY-DE 20 49359245 49359245 single base substitution A G intron_variant MALY-DE 20 49362313 49362313 single base substitution G A intron_variant MALY-DE 20 49366652 49366652 single base substitution C A intron_variant MALY-DE 20 49366652 49366652 single base substitution C A missense_variant A249E 746C>A MELA-AU 20 49343083 49343083 single base substitution G A upstream_gene_variant MELA-AU 20 49343208 49343208 single base substitution G A upstream_gene_variant MELA-AU 20 49343381 49343381 single base substitution T C upstream_gene_variant MELA-AU 20 49343781 49343781 single base substitution G A upstream_gene_variant MELA-AU 20 49344017 49344017 single base substitution G A upstream_gene_variant MELA-AU 20 49344310 49344310 single base substitution G A upstream_gene_variant MELA-AU 20 49344465 49344465 single base substitution C T upstream_gene_variant MELA-AU 20 49344873 49344873 single base substitution T A upstream_gene_variant MELA-AU 20 49345090 49345090 single base substitution G A upstream_gene_variant MELA-AU 20 49345269 49345269 single base substitution C T upstream_gene_variant MELA-AU 20 49345551 49345551 single base substitution C T upstream_gene_variant MELA-AU 20 49345734 49345734 single base substitution G A upstream_gene_variant MELA-AU 20 49345841 49345841 single base substitution G A upstream_gene_variant MELA-AU 20 49345847 49345847 single base substitution G A upstream_gene_variant MELA-AU 20 49346614 49346614 single base substitution C T upstream_gene_variant MELA-AU 20 49346916 49346916 single base substitution C A upstream_gene_variant MELA-AU 20 49347059 49347059 single base substitution G A upstream_gene_variant MELA-AU 20 49347388 49347388 single base substitution G A upstream_gene_variant MELA-AU 20 49347664 49347664 single base substitution C T upstream_gene_variant MELA-AU 20 49347673 49347673 single base substitution G A upstream_gene_variant MELA-AU 20 49347805 49347805 single base substitution G A upstream_gene_variant MELA-AU 20 49349643 49349643 single base substitution C T intron_variant MELA-AU 20 49349844 49349844 single base substitution C T intron_variant MELA-AU 20 49350806 49350806 single base substitution C A intron_variant MELA-AU 20 49351156 49351156 single base substitution C T intron_variant MELA-AU 20 49351358 49351358 single base substitution C T intron_variant MELA-AU 20 49352214 49352214 single base substitution C T intron_variant MELA-AU 20 49352320 49352320 single base substitution C T intron_variant MELA-AU 20 49352527 49352527 single base substitution C T intron_variant MELA-AU 20 49353145 49353145 single base substitution C T intron_variant MELA-AU 20 49353339 49353339 single base substitution G A intron_variant MELA-AU 20 49354382 49354382 single base substitution T G intron_variant MELA-AU 20 49355408 49355408 single base substitution C T intron_variant MELA-AU 20 49356052 49356052 single base substitution C T intron_variant MELA-AU 20 49356671 49356671 single base substitution C T intron_variant MELA-AU 20 49356672 49356672 single base substitution C T intron_variant MELA-AU 20 49356949 49356950 multiple base substitution (>=2bp and <=200bp) TT GA intron_variant MELA-AU 20 49356954 49356954 single base substitution C T intron_variant MELA-AU 20 49357077 49357077 single base substitution C T intron_variant MELA-AU 20 49357326 49357326 single base substitution A G intron_variant MELA-AU 20 49357879 49357879 single base substitution C T intron_variant MELA-AU 20 49358105 49358105 single base substitution G A intron_variant MELA-AU 20 49358377 49358377 single base substitution C T intron_variant MELA-AU 20 49359006 49359006 single base substitution G A intron_variant MELA-AU 20 49359548 49359548 single base substitution C T intron_variant MELA-AU 20 49359602 49359602 single base substitution T C intron_variant MELA-AU 20 49360281 49360281 single base substitution C T intron_variant MELA-AU 20 49360521 49360521 single base substitution T C intron_variant MELA-AU 20 49363847 49363847 single base substitution G A intron_variant MELA-AU 20 49364211 49364211 single base substitution C T intron_variant MELA-AU 20 49364299 49364299 single base substitution C T intron_variant MELA-AU 20 49364634 49364634 single base substitution G A intron_variant MELA-AU 20 49364751 49364751 single base substitution A G intron_variant MELA-AU 20 49365044 49365044 single base substitution C T intron_variant MELA-AU 20 49365071 49365071 single base substitution G T intron_variant MELA-AU 20 49365132 49365132 single base substitution A G intron_variant MELA-AU 20 49365815 49365816 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 20 49366491 49366491 single base substitution C T intron_variant MELA-AU 20 49366491 49366491 single base substitution C T synonymous_variant S195S 585C>T MELA-AU 20 49366841 49366841 single base substitution C T intron_variant MELA-AU 20 49366841 49366841 single base substitution C T missense_variant P312L 935C>T MELA-AU 20 49367703 49367703 single base substitution C T 3_prime_UTR_variant MELA-AU 20 49367703 49367703 single base substitution C T intron_variant MELA-AU 20 49367811 49367811 single base substitution T G 3_prime_UTR_variant MELA-AU 20 49367811 49367811 single base substitution T G intron_variant MELA-AU 20 49367931 49367931 single base substitution C T 3_prime_UTR_variant MELA-AU 20 49367931 49367931 single base substitution C T intron_variant MELA-AU 20 49368135 49368135 single base substitution G A 3_prime_UTR_variant MELA-AU 20 49368135 49368135 single base substitution G A intron_variant MELA-AU 20 49368138 49368138 single base substitution C T 3_prime_UTR_variant MELA-AU 20 49368138 49368138 single base substitution C T intron_variant MELA-AU 20 49368483 49368483 single base substitution C T 3_prime_UTR_variant MELA-AU 20 49368483 49368483 single base substitution C T intron_variant MELA-AU 20 49368892 49368892 single base substitution C T 3_prime_UTR_variant MELA-AU 20 49368892 49368892 single base substitution C T intron_variant MELA-AU 20 49368893 49368893 single base substitution C T 3_prime_UTR_variant MELA-AU 20 49368893 49368893 single base substitution C T intron_variant MELA-AU 20 49368900 49368900 single base substitution G A 3_prime_UTR_variant MELA-AU 20 49368900 49368900 single base substitution G A intron_variant MELA-AU 20 49369137 49369137 single base substitution T C 3_prime_UTR_variant MELA-AU 20 49369137 49369137 single base substitution T C intron_variant MELA-AU 20 49369246 49369246 single base substitution C T 3_prime_UTR_variant MELA-AU 20 49369246 49369246 single base substitution C T intron_variant MELA-AU 20 49369438 49369438 single base substitution C T 3_prime_UTR_variant MELA-AU 20 49369438 49369438 single base substitution C T intron_variant MELA-AU 20 49369612 49369612 single base substitution C T 3_prime_UTR_variant MELA-AU 20 49369612 49369612 single base substitution C T intron_variant MELA-AU 20 49369614 49369614 single base substitution T C 3_prime_UTR_variant MELA-AU 20 49369614 49369614 single base substitution T C intron_variant MELA-AU 20 49370355 49370355 single base substitution C T downstream_gene_variant MELA-AU 20 49370355 49370355 single base substitution C T intron_variant MELA-AU 20 49370715 49370715 single base substitution C T downstream_gene_variant MELA-AU 20 49370715 49370715 single base substitution C T intron_variant MELA-AU 20 49370852 49370852 single base substitution C T downstream_gene_variant MELA-AU 20 49370852 49370852 single base substitution C T intron_variant MELA-AU 20 49372666 49372666 single base substitution C T downstream_gene_variant MELA-AU 20 49372666 49372666 single base substitution C T intron_variant MELA-AU 20 49373707 49373707 single base substitution C T downstream_gene_variant MELA-AU 20 49373716 49373716 single base substitution C T downstream_gene_variant MELA-AU 20 49373765 49373765 single base substitution C T downstream_gene_variant MELA-AU 20 49374173 49374173 single base substitution C T downstream_gene_variant MELA-AU 20 49374541 49374541 single base substitution C T downstream_gene_variant MELA-AU 20 49374791 49374791 single base substitution A G downstream_gene_variant MELA-AU 20 49375335 49375335 single base substitution C T downstream_gene_variant MELA-AU 20 49375384 49375384 single base substitution T C downstream_gene_variant MELA-AU 20 49375514 49375514 single base substitution T G downstream_gene_variant MELA-AU 20 49375602 49375602 single base substitution C T downstream_gene_variant MELA-AU 20 49375886 49375886 single base substitution C T downstream_gene_variant MELA-AU 20 49376083 49376083 single base substitution C T downstream_gene_variant MELA-AU 20 49376202 49376202 single base substitution G A downstream_gene_variant MELA-AU 20 49377001 49377001 single base substitution G A downstream_gene_variant MELA-AU 20 49377944 49377944 single base substitution G A downstream_gene_variant OV-AU 20 49344027 49344027 single base substitution C G upstream_gene_variant OV-AU 20 49346884 49346884 single base substitution T G upstream_gene_variant OV-AU 20 49349025 49349025 single base substitution A T intron_variant OV-AU 20 49359053 49359053 single base substitution C G intron_variant OV-AU 20 49369175 49369175 single base substitution T G 3_prime_UTR_variant OV-AU 20 49369175 49369175 single base substitution T G intron_variant OV-AU 20 49375927 49375927 single base substitution G C downstream_gene_variant PACA-AU 20 49343327 49343327 single base substitution G A upstream_gene_variant PACA-AU 20 49344959 49344959 single base substitution C T upstream_gene_variant PACA-AU 20 49346384 49346384 single base substitution T A upstream_gene_variant PACA-AU 20 49346425 49346425 single base substitution C T upstream_gene_variant PACA-AU 20 49349878 49349878 single base substitution T A intron_variant PACA-AU 20 49350988 49350988 single base substitution A G intron_variant PACA-AU 20 49353162 49353162 single base substitution C T intron_variant PACA-AU 20 49363502 49363502 single base substitution C G intron_variant PACA-AU 20 49365338 49365338 single base substitution C T intron_variant PACA-AU 20 49366743 49366743 insertion of <=200bp - GATT frameshift_variant Q279QI? PACA-AU 20 49366743 49366743 insertion of <=200bp - GATT intron_variant PACA-AU 20 49372879 49372902 deletion of <=200bp GCTAAAGTCTTTTGGCAGTACCAT - downstream_gene_variant PACA-AU 20 49372879 49372902 deletion of <=200bp GCTAAAGTCTTTTGGCAGTACCAT - intron_variant PACA-AU 20 49376022 49376022 single base substitution A G downstream_gene_variant PACA-CA 20 49343633 49343633 single base substitution G T upstream_gene_variant PACA-CA 20 49345085 49345085 single base substitution A G upstream_gene_variant PACA-CA 20 49352936 49352939 deletion of <=200bp ATAG - intron_variant PACA-CA 20 49355407 49355407 single base substitution C T intron_variant PACA-CA 20 49359031 49359031 single base substitution T A intron_variant PACA-CA 20 49361176 49361176 single base substitution C G intron_variant PACA-CA 20 49362786 49362786 single base substitution A T intron_variant PACA-CA 20 49363152 49363152 single base substitution C G intron_variant PACA-CA 20 49369304 49369304 single base substitution G T 3_prime_UTR_variant PACA-CA 20 49369304 49369304 single base substitution G T intron_variant PAEN-AU 20 49343372 49343372 single base substitution C T upstream_gene_variant PAEN-AU 20 49352818 49352818 single base substitution C G intron_variant PAEN-AU 20 49365543 49365543 single base substitution C G intron_variant PAEN-IT 20 49370447 49370447 single base substitution G A downstream_gene_variant PAEN-IT 20 49370447 49370447 single base substitution G A intron_variant PBCA-DE 20 49346834 49346834 single base substitution C T upstream_gene_variant PBCA-DE 20 49347349 49347349 single base substitution G T upstream_gene_variant PBCA-DE 20 49355577 49355577 insertion of <=200bp - T intron_variant PBCA-DE 20 49358201 49358201 insertion of <=200bp - TCTGAGTA intron_variant PBCA-DE 20 49364259 49364259 single base substitution A G intron_variant PBCA-DE 20 49372476 49372476 insertion of <=200bp - A downstream_gene_variant PBCA-DE 20 49372476 49372476 insertion of <=200bp - A intron_variant PRAD-CA 20 49358161 49358161 single base substitution C G intron_variant PRAD-CA 20 49372750 49372750 single base substitution C T downstream_gene_variant PRAD-CA 20 49372750 49372750 single base substitution C T intron_variant READ-US 20 49354428 49354428 single base substitution G T missense_variant R34I 101G>T READ-US 20 49366328 49366328 single base substitution C T intron_variant READ-US 20 49366328 49366328 single base substitution C T missense_variant P141L 422C>T RECA-EU 20 49344459 49344459 single base substitution T G upstream_gene_variant RECA-EU 20 49349953 49349953 single base substitution C A intron_variant RECA-EU 20 49351053 49351053 single base substitution A C intron_variant RECA-EU 20 49354081 49354081 single base substitution T C intron_variant RECA-EU 20 49357606 49357606 single base substitution T A intron_variant RECA-EU 20 49357755 49357755 single base substitution C A intron_variant RECA-EU 20 49359376 49359376 single base substitution T A intron_variant RECA-EU 20 49361318 49361318 single base substitution T C intron_variant RECA-EU 20 49364504 49364504 single base substitution A G intron_variant RECA-EU 20 49367451 49367451 single base substitution T C 3_prime_UTR_variant RECA-EU 20 49367451 49367451 single base substitution T C intron_variant SKCA-BR 20 49345672 49345672 single base substitution G A upstream_gene_variant SKCA-BR 20 49347141 49347141 single base substitution G A upstream_gene_variant SKCA-BR 20 49347495 49347495 single base substitution C T upstream_gene_variant SKCA-BR 20 49349673 49349673 single base substitution G T intron_variant SKCA-BR 20 49356003 49356003 single base substitution T C intron_variant SKCA-BR 20 49357390 49357390 single base substitution C T intron_variant SKCA-BR 20 49358717 49358717 single base substitution A G intron_variant SKCA-BR 20 49358780 49358780 single base substitution C T intron_variant SKCA-BR 20 49360267 49360267 single base substitution T A intron_variant SKCA-BR 20 49366008 49366008 single base substitution C T intron_variant SKCA-BR 20 49366229 49366229 single base substitution C T intron_variant SKCA-BR 20 49366229 49366229 single base substitution C T missense_variant T108M 323C>T SKCA-BR 20 49367927 49367927 single base substitution C T 3_prime_UTR_variant SKCA-BR 20 49367927 49367927 single base substitution C T intron_variant SKCA-BR 20 49368260 49368260 insertion of <=200bp - CTTTT 3_prime_UTR_variant SKCA-BR 20 49368260 49368260 insertion of <=200bp - CTTTT intron_variant SKCA-BR 20 49369566 49369566 single base substitution G A 3_prime_UTR_variant SKCA-BR 20 49369566 49369566 single base substitution G A intron_variant SKCA-BR 20 49369567 49369567 single base substitution G A 3_prime_UTR_variant SKCA-BR 20 49369567 49369567 single base substitution G A intron_variant SKCA-BR 20 49370828 49370828 single base substitution T C downstream_gene_variant SKCA-BR 20 49370828 49370828 single base substitution T C intron_variant SKCA-BR 20 49371133 49371133 single base substitution C T downstream_gene_variant SKCA-BR 20 49371133 49371133 single base substitution C T intron_variant SKCA-BR 20 49373222 49373222 single base substitution G A downstream_gene_variant SKCA-BR 20 49373222 49373222 single base substitution G A missense_variant G97E 290G>A SKCA-BR 20 49374980 49374980 single base substitution G A downstream_gene_variant SKCA-BR 20 49375064 49375064 single base substitution C T downstream_gene_variant SKCA-BR 20 49376389 49376389 single base substitution G A downstream_gene_variant SKCA-BR 20 49376896 49376896 single base substitution G A downstream_gene_variant SKCA-BR 20 49377654 49377654 single base substitution C T downstream_gene_variant SKCA-BR 20 49378096 49378096 single base substitution G A downstream_gene_variant SKCM-US 20 49354422 49354422 single base substitution T A missense_variant L32Q 95T>A SKCM-US 20 49354562 49354562 single base substitution C T missense_variant H79Y 235C>T SKCM-US 20 49366359 49366359 single base substitution C T intron_variant SKCM-US 20 49366359 49366359 single base substitution C T synonymous_variant L151L 453C>T SKCM-US 20 49366490 49366490 single base substitution C T intron_variant SKCM-US 20 49366490 49366490 single base substitution C T missense_variant S195F 584C>T SKCM-US 20 49366992 49366992 single base substitution C T intron_variant SKCM-US 20 49366992 49366992 single base substitution C T synonymous_variant L362L 1086C>T STAD-US 20 49354417 49354417 single base substitution T C synonymous_variant F30F 90T>C STAD-US 20 49354499 49354499 single base substitution G A missense_variant V58I 172G>A STAD-US 20 49366531 49366531 single base substitution T G intron_variant STAD-US 20 49366531 49366531 single base substitution T G missense_variant L209V 625T>G STAD-US 20 49366625 49366625 single base substitution G A intron_variant STAD-US 20 49366625 49366625 single base substitution G A missense_variant R240H 719G>A STAD-US 20 49366647 49366647 single base substitution A G intron_variant STAD-US 20 49366647 49366647 single base substitution A G synonymous_variant R247R 741A>G STAD-US 20 49366779 49366779 single base substitution C T intron_variant STAD-US 20 49366779 49366779 single base substitution C T synonymous_variant S291S 873C>T STAD-US 20 49366959 49366959 single base substitution G A intron_variant STAD-US 20 49366959 49366959 single base substitution G A synonymous_variant T351T 1053G>A THCA-US 20 49366339 49366339 single base substitution A T intron_variant THCA-US 20 49366339 49366339 single base substitution A T missense_variant I145F 433A>T THCA-US 20 49366676 49366676 single base substitution G A intron_variant THCA-US 20 49366676 49366676 single base substitution G A missense_variant R257K 770G>A UCEC-US 20 49354524 49354524 single base substitution A G missense_variant H66R 197A>G UCEC-US 20 49366302 49366302 single base substitution C A intron_variant UCEC-US 20 49366302 49366302 single base substitution C A synonymous_variant V132V 396C>A UCEC-US 20 49366347 49366347 single base substitution C T intron_variant UCEC-US 20 49366347 49366347 single base substitution C T synonymous_variant D147D 441C>T UCEC-US 20 49366426 49366426 single base substitution C T intron_variant UCEC-US 20 49366426 49366426 single base substitution C T missense_variant R174W 520C>T UCEC-US 20 49366800 49366800 single base substitution T A intron_variant UCEC-US 20 49366800 49366800 single base substitution T A synonymous_variant I298I 894T>A UCEC-US 20 49366996 49366996 single base substitution G T intron_variant UCEC-US 20 49366996 49366996 single base substitution G T stop_gained E364* 1090G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-EB-A3Y7-01 COSM3547649 c.584C>T p.S195F Substitution - Missense 20:50749953-50749953 + HCC2998 COSM2762642 c.944A>C p.E315A Substitution - Missense 20:50750313-50750313 + STC263 COSM5057405 c.908T>C p.V303A Substitution - Missense 20:50750277-50750277 + TCGA-B0-5702-01 COSM478292 c.389A>G p.H130R Substitution - Missense 20:50749758-50749758 + YUBER COSM1713658 c.301T>C p.Y101H Substitution - Missense 20:50749670-50749670 + TARGET-30-PARZMY COSM1286966 c.1041C>A p.S347R Substitution - Missense 20:50750410-50750410 + TCGA-D5-6930-01 COSM1412434 c.212C>A p.P71H Substitution - Missense 20:50738002-50738002 + TCGA-BP-5007-01 COSM3358398 c.757_758delAA p.N253fs*1 Deletion - Frameshift 20:50750126-50750127 + PT25 COSM5905126 c.454C>T p.P152S Substitution - Missense 20:50749823-50749823 + TCGA-GV-A3JZ-01 COSM1307517 c.226G>A p.D76N Substitution - Missense 20:50738016-50738016 + DN111AA COSM5773310 c.688C>T p.Q230* Substitution - Nonsense 20:50750057-50750057 + YUROC COSM5392315 c.159C>T p.I53I Substitution - coding silent 20:50737949-50737949 + 179 COSM1741494 c.260C>T p.P87L Substitution - Missense 20:50738050-50738050 + PTC-28C COSM4134656 c.74C>A p.A25D Substitution - Missense 20:50737864-50737864 + TCGA-IR-A3LI-01 COSM2150398 c.743C>T p.P248L Substitution - Missense 20:50750112-50750112 + 18 COSM5745448 c.41T>C p.L14P Substitution - Missense 20:50731827-50731827 + TCGA-BQ-5886-01 COSM3991775 c.701T>C p.M234T Substitution - Missense 20:50750070-50750070 + TCGA-A8-A09M-01 COSM444022 c.571G>C p.G191R Substitution - Missense 20:50749940-50749940 + TCGA-F1-6874-01 COSM4099337 c.172G>A p.V58I Substitution - Missense 20:50737962-50737962 + TCGA-A4-7584-01 COSM478292 c.389A>G p.H130R Substitution - Missense 20:50749758-50749758 + PD4601a COSM163254 c.952G>T p.E318* Substitution - Nonsense 20:50750321-50750321 + BK0031 COSM4186902 c.725T>A p.L242H Substitution - Missense 20:50750094-50750094 + CSCC-44-T COSM4549360 c.470G>C p.R157T Substitution - Missense 20:50749839-50749839 + TCGA-BR-4257-01 COSM4099342 c.1053G>A p.T351T Substitution - coding silent 20:50750422-50750422 + TCGA-EE-A29D-06 COSM3547648 c.453C>T p.L151L Substitution - coding silent 20:50749822-50749822 + TCGA-A6-5665-01 COSM1412435 c.354C>T p.N118N Substitution - coding silent 20:50749723-50749723 + ESCC_14 COSM5625535 c.92C>T p.S31L Substitution - Missense 20:50737882-50737882 + TCGA-BR-8589-01 COSM4099338 c.625T>G p.L209V Substitution - Missense 20:50749994-50749994 + 61 COSM3405183 c.745G>A p.A249T Substitution - Missense 20:50750114-50750114 + TCGA-B5-A0JY-01 COSM1027960 c.1090G>T p.E364* Substitution - Nonsense 20:50750459-50750459 + TCGA-BR-A4J7-01 COSM4099336 c.90T>C p.F30F Substitution - coding silent 20:50737880-50737880 + TCGA-EM-A3AQ-01 COSM3371724 c.770G>A p.R257K Substitution - Missense 20:50750139-50750139 + TCGA-D1-A160-01 COSM1027957 c.441C>T p.D147D Substitution - coding silent 20:50749810-50749810 + TCGA-BM-6198-01 COSM3423724 c.422C>T p.P141L Substitution - Missense 20:50749791-50749791 + TCGA-A4-7286-01 COSM3991776 c.1117T>C p.*373R Nonstop extension 20:50750486-50750486 + HCT116 COSM2762640 c.910delC p.P304fs*17 Deletion - Frameshift 20:50750279-50750279 + TCGA-EI-6917-01 COSM3423723 c.101G>T p.R34I Substitution - Missense 20:50737891-50737891 + TCGA-BR-4184-01 COSM4099341 c.873C>T p.S291S Substitution - coding silent 20:50750242-50750242 + PD4127a COSM163255 c.993G>A p.Q331Q Substitution - coding silent 20:50750362-50750362 + 392 COSM3722939 c.431C>T p.S144F Substitution - Missense 20:50749800-50749800 + H1155 COSM1195126 c.355G>A p.V119I Substitution - Missense 20:50749724-50749724 + PD4874a COSM5787766 c.559G>C p.E187Q Substitution - Missense 20:50749928-50749928 + 587342 COSM1219285 c.781A>G p.T261A Substitution - Missense 20:50750150-50750150 + PD13165a COSM5773310 c.688C>T p.Q230* Substitution - Nonsense 20:50750057-50750057 + TCGA-D3-A1Q6-06 COSM3547650 c.1086C>T p.L362L Substitution - coding silent 20:50750455-50750455 + TCGA-B0-5694-01 COSM478293 c.1095A>T p.E365D Substitution - Missense 20:50750464-50750464 + C COSM3728465 c.601G>T p.G201C Substitution - Missense 20:50749970-50749970 + PD9756a COSM5801362 c.864_887del24 p.E289_I296delEDSEEDDI Deletion - In frame 20:50750233-50750256 + TCGA-B5-A0JR-01 COSM1027955 c.197A>G p.H66R Substitution - Missense 20:50737987-50737987 + 587222 COSM1219284 c.101G>A p.R34K Substitution - Missense 20:50737891-50737891 + TCGA-BP-4960-01 COSM478294 c.1098T>C p.D366D Substitution - coding silent 20:50750467-50750467 + TCGA-AX-A05Z-01 COSM1027956 c.396C>A p.V132V Substitution - coding silent 20:50749765-50749765 + T263 COSM4711135 c.495G>A p.T165T Substitution - coding silent 20:50749864-50749864 + TCGA-CG-5721-01 COSM4099340 c.741A>G p.R247R Substitution - coding silent 20:50750110-50750110 + B8 COSM254887 c.500A>T p.K167I Substitution - Missense 20:50749869-50749869 + Pat_45_B COSM5858106 c.97G>A p.E33K Substitution - Missense 20:50737887-50737887 + TCGA-AA-3492-01 COSM1412436 c.467G>A p.R156H Substitution - Missense 20:50749836-50749836 + ESO-632 COSM1260923 c.584C>A p.S195Y Substitution - Missense 20:50749953-50749953 + B8-Tumor COSM254887 c.500A>T p.K167I Substitution - Missense 20:50749869-50749869 + TCGA-EE-A2GR-06 COSM3547647 c.95T>A p.L32Q Substitution - Missense 20:50737885-50737885 + TCGA-06-5418-01 COSM3405183 c.745G>A p.A249T Substitution - Missense 20:50750114-50750114 + PTC-28C COSM4134657 c.75T>A p.A25A Substitution - coding silent 20:50737865-50737865 + HCT-116 COSM1684623 c.911delC p.P304fs*17 Deletion - Frameshift 20:50750280-50750280 + TCGA-AP-A054-01 COSM1027959 c.894T>A p.I298I Substitution - coding silent 20:50750263-50750263 + PD4968a COSM5802506 c.780_784delGACTT p.T261fs*8 Deletion - Frameshift 20:50750149-50750153 + TCGA-B5-A11E-01 COSM1027958 c.520C>T p.R174W Substitution - Missense 20:50749889-50749889 + TCGA-D8-A1J9-01 COSM1483744 c.640G>A p.E214K Substitution - Missense 20:50750009-50750009 + RK180_C01 COSM1632343 c.289+7A>G p.? Unknown 20:50738086-50738086 + HCC073T COSM5821754 c.834G>T p.Q278H Substitution - Missense 20:50750203-50750203 + pfg378T COSM4754796 c.17G>A p.R6Q Substitution - Missense 20:50731803-50731803 + TCGA-GF-A6C9-06 COSM4901279 c.235C>T p.H79Y Substitution - Missense 20:50738025-50738025 + TCGA-EM-A2OV-01 COSM3371723 c.433A>T p.I145F Substitution - Missense 20:50749802-50749802 + S02299 COSM5690554 c.462G>T p.T154T Substitution - coding silent 20:50749831-50749831 + 35M COSM5582044 c.82C>T p.R28C Substitution - Missense 20:50737872-50737872 + TCGA-06-0173 COSM2150398 c.743C>T p.P248L Substitution - Missense 20:50750112-50750112 + PD2147a COSM51920 c.525T>C p.D175D Substitution - coding silent 20:50749894-50749894 + TCGA-FU-A3HZ-01 COSM4839609 c.1006C>T p.P336S Substitution - Missense 20:50750375-50750375 + TCGA-BR-8678-01 COSM4099339 c.719G>A p.R240H Substitution - Missense 20:50750088-50750088 + pfg017T COSM1641375 c.475C>T p.R159C Substitution - Missense 20:50749844-50749844 + TCGA-06-0173-01 COSM2150398 c.743C>T p.P248L Substitution - Missense 20:50750112-50750112 + L02 COSM5368549 c.667G>A p.V223I Substitution - Missense 20:50750036-50750036 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.589716;Hs.589720;Hs.589722;Hs.589726;Hs.589727;Hs.589730;Hs.589731;Hs.589735;Hs.589738;Hs.589743;Hs.589751;Hs.589752;Hs.589755;Hs.589758;Hs.589764;Hs.589765;Hs.589768;Hs.589771;Hs.589772;Hs.589776;Hs.589779;Hs.589780;Hs.589783;Hs.589788;Hs.589790;Hs.589791;Hs.589795;Hs.589797;Hs.589798;Hs.589799;Hs.589800;Hs.589801;Hs.589803;Hs.589807;Hs.589810;Hs.589812;Hs.589813;Hs.589814;Hs.589815;Hs.589816;Hs.589817;Hs.589819;Hs.589821;Hs.589824;Hs.589826;Hs.589829;Hs.589833;Hs.589835;Hs.589836;Hs.589837;Hs.589838;Hs.589840;Hs.589846;Hs.589848 20q13.13 608975 2409439|CGAP|BC060847|A/G|non-coding||2541|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AA - Frameshift p.N253*fs*1 c.757_758delAA 20 49366663 RCCC AAG - InFrameDeletion p.K113delK c.339_341delGAA 20 49366237 BRCA A G 3-UTRSNV . c.1116+3163A>G 20 49370185 HC AGA - InFrameDeletion p.E365delE c.1095_1097delAGA 20 49366995 LUAD A G Missense p.H130R c.389A>G 20 49366295 RCCC A G Missense p.H66R c.197A>G 20 49354524 UCEC A G Synonymous p.P183P c.549A>G 20 49366455 LUAD A T Missense p.E365D c.1095A>T 20 49367001 RCCC A T Missense p.I145F c.433A>T 20 49366339 THCA A T Missense p.K167I c.500A>T 20 49366406 CLL C A Missense p.S195Y c.584C>A 20 49366490 ESCA C A Missense p.S347R c.1041C>A 20 49366947 NB C T Missense p.P248L c.743C>T 20 49366649 GBM C T Missense p.R159C c.475C>T 20 49366381 STAD C T Missense p.R28C c.82C>T 20 49354409 CM C T Missense p.S349L c.1046C>T 20 49366952 LUAD C T Synonymous p.D147D c.441C>T 20 49366347 UCEC C T Synonymous p.L362L c.1086C>T 20 49366992 CM G A Missense p.A249T c.745G>A 20 49366651 GBM G A Missense p.D76N c.226G>A 20 49354553 BLCA G A Missense p.E214K c.640G>A 20 49366546 BRCA G A Missense p.R257K c.770G>A 20 49366676 THCA G A Missense p.V58I c.172G>A 20 49354499 HNSC G A Missense p.V58I c.172G>A 20 49354499 STAD G A Synonymous p.Q331Q c.993G>A 20 49366899 BRCA G A Synonymous p.T351T c.1053G>A 20 49366959 STAD G C Missense p.G191R c.571G>C 20 49366477 BRCA G T Missense p.E287D c.861G>T 20 49366767 LUAD G T Missense p.R174L c.521G>T 20 49366427 STAD G T Nonsense p.E318* c.952G>T 20 49366858 BRCA T A Missense p.L32Q c.95T>A 20 49354422 CM T A Synonymous p.I298I c.894T>A 20 49366800 UCEC T C Synonymous p.D366D c.1098T>C 20 49367004 RCCC T G 3-UTRSNV . c.1116+1101T>G 20 49368123 HC