Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 12 110451041 110451041 + Frame_Shift_Del DEL A A - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 g.chr12:110451041delA c.341delA c.(340-342)caafs p.Q114fs BLCA 12 110456221 110456221 + Missense_Mutation SNP G G A TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr12:110456221G>A c.472G>A c.(472-474)Gat>Aat p.D158N BLCA 12 110456242 110456242 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 g.chr12:110456242G>C c.493G>C c.(493-495)Gaa>Caa p.E165Q BLCA 12 110463573 110463573 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 g.chr12:110463573G>A c.828G>A c.(826-828)gtG>gtA p.V276V BLCA 12 110468561 110468561 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 g.chr12:110468561C>T c.1346C>T c.(1345-1347)tCa>tTa p.S449L BRCA 12 110456273 110456273 + Missense_Mutation SNP G G T TCGA-B6-A1KC-01B-11D-A159-09 TCGA-B6-A1KC-10A-01W-A14R-09 g.chr12:110456273G>T c.524G>T c.(523-525)aGt>aTt p.S175I COAD 12 110449861 110449861 + Missense_Mutation SNP T T C TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr12:110449861T>C c.148T>C c.(148-150)Tcc>Ccc p.S50P COAD 12 110449927 110449927 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr12:110449927C>T c.214C>T c.(214-216)Cgc>Tgc p.R72C COAD 12 110456190 110456190 + Silent SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr12:110456190C>T c.441C>T c.(439-441)cgC>cgT p.R147R COAD 12 110457028 110457028 + Missense_Mutation SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr12:110457028G>A c.629G>A c.(628-630)cGc>cAc p.R210H COAD 12 110461850 110461850 + Splice_Site SNP G G T TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr12:110461850G>T c.e7-1 COAD 12 110466419 110466419 + Missense_Mutation SNP C C T TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr12:110466419C>T c.1048C>T c.(1048-1050)Ccg>Tcg p.P350S COAD 12 110467370 110467370 + Silent SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:110467370G>A c.1164G>A c.(1162-1164)acG>acA p.T388T COAD 12 110475213 110475213 + Missense_Mutation SNP G G A TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr12:110475213G>A c.1627G>A c.(1627-1629)Gcc>Acc p.A543T COADREAD 12 110449861 110449861 + Missense_Mutation SNP T T C TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr12:110449861T>C c.148T>C c.(148-150)Tcc>Ccc p.S50P COADREAD 12 110449927 110449927 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:110449927C>T c.214C>T c.(214-216)Cgc>Tgc p.R72C COADREAD 12 110449927 110449927 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr12:110449927C>T c.214C>T c.(214-216)Cgc>Tgc p.R72C COADREAD 12 110456190 110456190 + Silent SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr12:110456190C>T c.441C>T c.(439-441)cgC>cgT p.R147R COADREAD 12 110457028 110457028 + Missense_Mutation SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr12:110457028G>A c.629G>A c.(628-630)cGc>cAc p.R210H COADREAD 12 110461850 110461850 + Splice_Site SNP G G T TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr12:110461850G>T c.e7-1 COADREAD 12 110461908 110461908 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:110461908C>T c.792C>T c.(790-792)taC>taT p.Y264Y COADREAD 12 110466419 110466419 + Missense_Mutation SNP C C T TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr12:110466419C>T c.1048C>T c.(1048-1050)Ccg>Tcg p.P350S COADREAD 12 110467370 110467370 + Silent SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:110467370G>A c.1164G>A c.(1162-1164)acG>acA p.T388T COADREAD 12 110471670 110471670 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:110471670G>T c.1417G>T c.(1417-1419)Gac>Tac p.D473Y COADREAD 12 110475213 110475213 + Missense_Mutation SNP G G A TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr12:110475213G>A c.1627G>A c.(1627-1629)Gcc>Acc p.A543T DLBC 12 110449872 110449872 + Missense_Mutation SNP T T A TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr12:110449872T>A c.159T>A c.(157-159)caT>caA p.H53Q ESCA 12 110463586 110463586 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 g.chr12:110463586C>T c.841C>T c.(841-843)Cgc>Tgc p.R281C GBMLGG 12 110456215 110456215 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:110456215C>T c.466C>T c.(466-468)Cgc>Tgc p.R156C GBMLGG 12 110461861 110461861 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:110461861G>A c.745G>A c.(745-747)Gga>Aga p.G249R GBMLGG 12 110463620 110463620 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:110463620G>T c.875G>T c.(874-876)aGa>aTa p.R292I HNSC 12 110463612 110463618 + Frame_Shift_Del DEL AAAAAAG AAAAAAG - TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 g.chr12:110463612_110463618delAAAAAAG c.867_873delAAAAAAG c.(865-873)gaaaaaaagfs p.EKK289fs HNSC 12 110474131 110474131 + Missense_Mutation SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 g.chr12:110474131G>C c.1575G>C c.(1573-1575)gaG>gaC p.E525D KIPAN 12 110457067 110457067 + Missense_Mutation SNP T T C TCGA-G7-6797-01A-11D-1961-08 TCGA-G7-6797-10A-01D-1962-08 g.chr12:110457067T>C c.668T>C c.(667-669)gTt>gCt p.V223A KIRP 12 110457067 110457067 + Missense_Mutation SNP T T C TCGA-G7-6797-01A-11D-1961-08 TCGA-G7-6797-10A-01D-1962-08 g.chr12:110457067T>C c.668T>C c.(667-669)gTt>gCt p.V223A LAML 12 110471685 110471685 + Missense_Mutation SNP G G A TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 g.chr12:110471685G>A c.1432G>A c.(1432-1434)Gtg>Atg p.V478M LGG 12 110456215 110456215 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:110456215C>T c.466C>T c.(466-468)Cgc>Tgc p.R156C LGG 12 110461861 110461861 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:110461861G>A c.745G>A c.(745-747)Gga>Aga p.G249R LGG 12 110463620 110463620 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:110463620G>T c.875G>T c.(874-876)aGa>aTa p.R292I LIHC 12 110437503 110437503 + Missense_Mutation SNP G G A TCGA-DD-AADI-01A-11D-A40R-10 TCGA-DD-AADI-10A-01D-A40U-10 g.chr12:110437503G>A c.10G>A c.(10-12)Gcc>Acc p.A4T LIHC 12 110456257 110456257 + Missense_Mutation SNP A A G TCGA-XR-A8TF-01A-11D-A35Z-10 TCGA-XR-A8TF-10A-01D-A35Z-10 g.chr12:110456257A>G c.508A>G c.(508-510)Ata>Gta p.I170V LIHC 12 110457106 110457106 + Missense_Mutation SNP T T G TCGA-GJ-A3OU-01A-31D-A382-10 TCGA-GJ-A3OU-10A-01D-A385-10 g.chr12:110457106T>G c.707T>G c.(706-708)cTc>cGc p.L236R LIHC 12 110463610 110463611 + Frame_Shift_Ins INS - - A TCGA-DD-AAD5-01A-11D-A40R-10 TCGA-DD-AAD5-10A-01D-A40U-10 g.chr12:110463610_110463611insA c.865_866insA c.(865-867)gaafs p.E289fs LIHC 12 110465512 110465512 + Missense_Mutation SNP G G T TCGA-DD-AACF-01A-11D-A40R-10 TCGA-DD-AACF-10A-01D-A40U-10 g.chr12:110465512G>T c.886G>T c.(886-888)Gac>Tac p.D296Y LIHC 12 110468463 110468463 + Silent SNP T T C TCGA-BC-A3KG-01A-11D-A20W-10 TCGA-BC-A3KG-10A-01D-A20W-10 g.chr12:110468463T>C c.1248T>C c.(1246-1248)ttT>ttC p.F416F LUAD 12 110466411 110466411 + Missense_Mutation SNP T T A TCGA-55-8614-01A-11D-2393-08 TCGA-55-8614-10A-01D-2393-08 g.chr12:110466411T>A c.1040T>A c.(1039-1041)aTt>aAt p.I347N LUAD 12 110467403 110467403 + Missense_Mutation SNP C C G TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr12:110467403C>G c.1197C>G c.(1195-1197)atC>atG p.I399M LUSC 12 110450962 110450962 + Nonsense_Mutation SNP G G T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr12:110450962G>T c.262G>T c.(262-264)Gag>Tag p.E88* PAAD 12 110450942 110450942 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:110450942C>T c.242C>T c.(241-243)gCt>gTt p.A81V PRAD 12 110456956 110456956 + Missense_Mutation SNP A A C TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 g.chr12:110456956A>C c.557A>C c.(556-558)gAg>gCg p.E186A PRAD 12 110475354 110475354 + Frame_Shift_Del DEL A A - TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 g.chr12:110475354delA c.1768delA c.(1768-1770)aaafs p.K590fs READ 12 110449927 110449927 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:110449927C>T c.214C>T c.(214-216)Cgc>Tgc p.R72C READ 12 110461908 110461908 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:110461908C>T c.792C>T c.(790-792)taC>taT p.Y264Y READ 12 110471670 110471670 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:110471670G>T c.1417G>T c.(1417-1419)Gac>Tac p.D473Y SARC 12 110474119 110474119 + Silent SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 g.chr12:110474119C>T c.1563C>T c.(1561-1563)gaC>gaT p.D521D SKCM 12 110449912 110449912 + Missense_Mutation SNP G G A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 g.chr12:110449912G>A c.199G>A c.(199-201)Gtg>Atg p.V67M SKCM 12 110450985 110450985 + Silent SNP A A G TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr12:110450985A>G c.285A>G c.(283-285)caA>caG p.Q95Q SKCM 12 110451049 110451049 + Missense_Mutation SNP C C A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr12:110451049C>A c.349C>A c.(349-351)Ctc>Atc p.L117I SKCM 12 110463606 110463606 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:110463606G>A c.861G>A c.(859-861)gaG>gaA p.E287E SKCM 12 110463607 110463607 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:110463607G>A c.862G>A c.(862-864)Gag>Aag p.E288K SKCM 12 110475222 110475222 + Missense_Mutation SNP G G A TCGA-D3-A51J-06A-11D-A25O-08 TCGA-D3-A51J-10A-01D-A25O-08 g.chr12:110475222G>A c.1636G>A c.(1636-1638)Gag>Aag p.E546K

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation AML-US 12 110449937 110449937 single base substitution G A 5_prime_UTR_variant AML-US 12 110449937 110449937 single base substitution G A exon_variant AML-US 12 110449937 110449937 single base substitution G A stop_gained W75* 224G>A BLCA-US 12 110456242 110456242 single base substitution G C exon_variant BLCA-US 12 110456242 110456242 single base substitution G C missense_variant E165Q 493G>C BLCA-US 12 110456242 110456242 single base substitution G C missense_variant E18Q 52G>C BLCA-US 12 110463573 110463573 single base substitution G A 3_prime_UTR_variant BLCA-US 12 110463573 110463573 single base substitution G A downstream_gene_variant BLCA-US 12 110463573 110463573 single base substitution G A exon_variant BLCA-US 12 110463573 110463573 single base substitution G A synonymous_variant V129V 387G>A BLCA-US 12 110463573 110463573 single base substitution G A synonymous_variant V276V 828G>A BLCA-US 12 110463573 110463573 single base substitution G A upstream_gene_variant BLCA-US 12 110468561 110468561 single base substitution C T downstream_gene_variant BLCA-US 12 110468561 110468561 single base substitution C T missense_variant S118L 353C>T BLCA-US 12 110468561 110468561 single base substitution C T missense_variant S449L 1346C>T BLCA-US 12 110468561 110468561 single base substitution C T missense_variant S66L 197C>T BLCA-US 12 110468561 110468561 single base substitution C T splice_region_variant BLCA-US 12 110468561 110468561 single base substitution C T synonymous_variant ?301 BRCA-EU 12 110433219 110433219 insertion of <=200bp - A upstream_gene_variant BRCA-EU 12 110434005 110434005 single base substitution C G upstream_gene_variant BRCA-EU 12 110434227 110434227 insertion of <=200bp - A upstream_gene_variant BRCA-EU 12 110435812 110435812 single base substitution C T upstream_gene_variant BRCA-EU 12 110436079 110436079 single base substitution C A upstream_gene_variant BRCA-EU 12 110438922 110438922 single base substitution C T intron_variant BRCA-EU 12 110439099 110439099 single base substitution C G intron_variant BRCA-EU 12 110440428 110440428 insertion of <=200bp - A intron_variant BRCA-EU 12 110441655 110441655 single base substitution C G intron_variant BRCA-EU 12 110441941 110441941 single base substitution C T intron_variant BRCA-EU 12 110441977 110441977 deletion of <=200bp T - intron_variant BRCA-EU 12 110442126 110442126 single base substitution G A intron_variant BRCA-EU 12 110442565 110442565 single base substitution T G intron_variant BRCA-EU 12 110443308 110443308 single base substitution C G intron_variant BRCA-EU 12 110443550 110443550 single base substitution G A intron_variant BRCA-EU 12 110443635 110443635 insertion of <=200bp - T intron_variant BRCA-EU 12 110445217 110445217 single base substitution C G intron_variant BRCA-EU 12 110445776 110445776 single base substitution C G intron_variant BRCA-EU 12 110445966 110445966 single base substitution T C intron_variant BRCA-EU 12 110446691 110446691 deletion of <=200bp A - intron_variant BRCA-EU 12 110446786 110446786 single base substitution C G intron_variant BRCA-EU 12 110448239 110448239 single base substitution C T intron_variant BRCA-EU 12 110448652 110448652 single base substitution C T intron_variant BRCA-EU 12 110451418 110451418 deletion of <=200bp A - intron_variant BRCA-EU 12 110451418 110451418 deletion of <=200bp A - upstream_gene_variant BRCA-EU 12 110452112 110452112 single base substitution G C intron_variant BRCA-EU 12 110452112 110452112 single base substitution G C upstream_gene_variant BRCA-EU 12 110454087 110454087 single base substitution T C intron_variant BRCA-EU 12 110454087 110454087 single base substitution T C upstream_gene_variant BRCA-EU 12 110454878 110454878 single base substitution C G intron_variant BRCA-EU 12 110454878 110454878 single base substitution C G upstream_gene_variant BRCA-EU 12 110455038 110455038 single base substitution G C intron_variant BRCA-EU 12 110455038 110455038 single base substitution G C upstream_gene_variant BRCA-EU 12 110455149 110455149 deletion of <=200bp T - intron_variant BRCA-EU 12 110455149 110455149 deletion of <=200bp T - upstream_gene_variant BRCA-EU 12 110460043 110460043 single base substitution G A exon_variant BRCA-EU 12 110460043 110460043 single base substitution G A intron_variant BRCA-EU 12 110460043 110460043 single base substitution G A upstream_gene_variant BRCA-EU 12 110460049 110460049 single base substitution T C exon_variant BRCA-EU 12 110460049 110460049 single base substitution T C intron_variant BRCA-EU 12 110460049 110460049 single base substitution T C upstream_gene_variant BRCA-EU 12 110460063 110460063 single base substitution G A exon_variant BRCA-EU 12 110460063 110460063 single base substitution G A intron_variant BRCA-EU 12 110460063 110460063 single base substitution G A upstream_gene_variant BRCA-EU 12 110460327 110460327 single base substitution G A downstream_gene_variant BRCA-EU 12 110460327 110460327 single base substitution G A intron_variant BRCA-EU 12 110460327 110460327 single base substitution G A upstream_gene_variant BRCA-EU 12 110461104 110461104 deletion of <=200bp T - downstream_gene_variant BRCA-EU 12 110461104 110461104 deletion of <=200bp T - intron_variant BRCA-EU 12 110461104 110461104 deletion of <=200bp T - upstream_gene_variant BRCA-EU 12 110463257 110463257 single base substitution G A downstream_gene_variant BRCA-EU 12 110463257 110463257 single base substitution G A intron_variant BRCA-EU 12 110463257 110463257 single base substitution G A upstream_gene_variant BRCA-EU 12 110464217 110464217 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 110464217 110464217 deletion of <=200bp A - intron_variant BRCA-EU 12 110464217 110464217 deletion of <=200bp A - upstream_gene_variant BRCA-EU 12 110464687 110464687 insertion of <=200bp - A downstream_gene_variant BRCA-EU 12 110464687 110464687 insertion of <=200bp - A intron_variant BRCA-EU 12 110464687 110464687 insertion of <=200bp - A upstream_gene_variant BRCA-EU 12 110465449 110465449 deletion of <=200bp T - intron_variant BRCA-EU 12 110465449 110465449 deletion of <=200bp T - upstream_gene_variant BRCA-EU 12 110465625 110465625 single base substitution C A intron_variant BRCA-EU 12 110465625 110465625 single base substitution C A upstream_gene_variant BRCA-EU 12 110466059 110466059 insertion of <=200bp - T exon_variant BRCA-EU 12 110466059 110466059 insertion of <=200bp - T intron_variant BRCA-EU 12 110466059 110466059 insertion of <=200bp - T upstream_gene_variant BRCA-EU 12 110466061 110466061 single base substitution T C exon_variant BRCA-EU 12 110466061 110466061 single base substitution T C intron_variant BRCA-EU 12 110466061 110466061 single base substitution T C upstream_gene_variant BRCA-EU 12 110467170 110467170 single base substitution G T exon_variant BRCA-EU 12 110467170 110467170 single base substitution G T intron_variant BRCA-EU 12 110467170 110467170 single base substitution G T upstream_gene_variant BRCA-EU 12 110469969 110469969 single base substitution C T downstream_gene_variant BRCA-EU 12 110469969 110469969 single base substitution C T intron_variant BRCA-EU 12 110469969 110469969 single base substitution C T upstream_gene_variant BRCA-EU 12 110471410 110471411 deletion of <=200bp TC - downstream_gene_variant BRCA-EU 12 110471410 110471411 deletion of <=200bp TC - intron_variant BRCA-EU 12 110471410 110471411 deletion of <=200bp TC - upstream_gene_variant BRCA-EU 12 110471515 110471515 deletion of <=200bp T - downstream_gene_variant BRCA-EU 12 110471515 110471515 deletion of <=200bp T - intron_variant BRCA-EU 12 110471515 110471515 deletion of <=200bp T - upstream_gene_variant BRCA-EU 12 110471913 110471913 single base substitution C G downstream_gene_variant BRCA-EU 12 110471913 110471913 single base substitution C G intron_variant BRCA-EU 12 110471913 110471913 single base substitution C G upstream_gene_variant BRCA-EU 12 110472552 110472552 single base substitution C G downstream_gene_variant BRCA-EU 12 110472552 110472552 single base substitution C G intron_variant BRCA-EU 12 110472552 110472552 single base substitution C G upstream_gene_variant BRCA-EU 12 110474391 110474391 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 110474391 110474391 deletion of <=200bp A - intron_variant BRCA-EU 12 110478474 110478474 single base substitution G A downstream_gene_variant BRCA-EU 12 110478636 110478636 single base substitution A G downstream_gene_variant BRCA-EU 12 110478641 110478641 single base substitution A T downstream_gene_variant BRCA-EU 12 110480786 110480786 single base substitution G C downstream_gene_variant BRCA-EU 12 110481487 110481487 single base substitution T C downstream_gene_variant BRCA-EU 12 110481740 110481740 single base substitution G A downstream_gene_variant BRCA-EU 12 110481783 110481783 single base substitution G C downstream_gene_variant BRCA-EU 12 110481908 110481908 single base substitution C G downstream_gene_variant BRCA-EU 12 110482460 110482460 single base substitution C T downstream_gene_variant BRCA-FR 12 110434005 110434005 single base substitution C G upstream_gene_variant BRCA-FR 12 110436079 110436079 single base substitution C A upstream_gene_variant BRCA-FR 12 110437638 110437638 single base substitution C G intron_variant BRCA-FR 12 110438922 110438922 single base substitution C T intron_variant BRCA-FR 12 110445217 110445217 single base substitution C G intron_variant BRCA-FR 12 110446786 110446786 single base substitution C G intron_variant BRCA-FR 12 110448652 110448652 single base substitution C T intron_variant BRCA-FR 12 110453459 110453459 single base substitution C T intron_variant BRCA-FR 12 110453459 110453459 single base substitution C T upstream_gene_variant BRCA-FR 12 110465625 110465625 single base substitution C A intron_variant BRCA-FR 12 110465625 110465625 single base substitution C A upstream_gene_variant BRCA-FR 12 110481783 110481783 single base substitution G C downstream_gene_variant BRCA-US 12 110456273 110456273 single base substitution G T exon_variant BRCA-US 12 110456273 110456273 single base substitution G T missense_variant S175I 524G>T BRCA-US 12 110456273 110456273 single base substitution G T missense_variant S28I 83G>T BTCA-JP 12 110437643 110437643 single base substitution G A intron_variant BTCA-JP 12 110451017 110451017 single base substitution T C exon_variant BTCA-JP 12 110451017 110451017 single base substitution T C missense_variant L106P 317T>C BTCA-JP 12 110461770 110461770 deletion of <=200bp A - downstream_gene_variant BTCA-JP 12 110461770 110461770 deletion of <=200bp A - exon_variant BTCA-JP 12 110461770 110461770 deletion of <=200bp A - intron_variant BTCA-JP 12 110461770 110461770 deletion of <=200bp A - upstream_gene_variant BTCA-JP 12 110467428 110467428 single base substitution C T 3_prime_UTR_variant BTCA-JP 12 110467428 110467428 single base substitution C T downstream_gene_variant BTCA-JP 12 110467428 110467428 single base substitution C T exon_variant BTCA-JP 12 110467428 110467428 single base substitution C T missense_variant P25S 73C>T BTCA-JP 12 110467428 110467428 single base substitution C T missense_variant P260S 778C>T BTCA-JP 12 110467428 110467428 single base substitution C T missense_variant P408S 1222C>T BTCA-JP 12 110467428 110467428 single base substitution C T missense_variant P77S 229C>T BTCA-JP 12 110482451 110482451 single base substitution C T downstream_gene_variant CLLE-ES 12 110445412 110445412 single base substitution C T intron_variant CLLE-ES 12 110464398 110464398 single base substitution A T downstream_gene_variant CLLE-ES 12 110464398 110464398 single base substitution A T intron_variant CLLE-ES 12 110464398 110464398 single base substitution A T upstream_gene_variant COAD-US 12 110449927 110449927 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant COAD-US 12 110449927 110449927 single base substitution C T exon_variant COAD-US 12 110449927 110449927 single base substitution C T missense_variant R72C 214C>T COAD-US 12 110456190 110456190 single base substitution C T 5_prime_UTR_variant COAD-US 12 110456190 110456190 single base substitution C T exon_variant COAD-US 12 110456190 110456190 single base substitution C T synonymous_variant R147R 441C>T COAD-US 12 110461850 110461850 single base substitution G T downstream_gene_variant COAD-US 12 110461850 110461850 single base substitution G T exon_variant COAD-US 12 110461850 110461850 single base substitution G T intron_variant COAD-US 12 110461850 110461850 single base substitution G T splice_acceptor_variant COAD-US 12 110461850 110461850 single base substitution G T upstream_gene_variant COCA-CN 12 110457142 110457142 single base substitution T G intron_variant COCA-CN 12 110457142 110457142 single base substitution T G upstream_gene_variant COCA-CN 12 110458969 110458969 single base substitution G T 3_prime_UTR_variant COCA-CN 12 110458969 110458969 single base substitution G T exon_variant COCA-CN 12 110458969 110458969 single base substitution G T intron_variant COCA-CN 12 110458969 110458969 single base substitution G T upstream_gene_variant COCA-CN 12 110463582 110463582 single base substitution A C 3_prime_UTR_variant COCA-CN 12 110463582 110463582 single base substitution A C downstream_gene_variant COCA-CN 12 110463582 110463582 single base substitution A C exon_variant COCA-CN 12 110463582 110463582 single base substitution A C missense_variant K132N 396A>C COCA-CN 12 110463582 110463582 single base substitution A C missense_variant K279N 837A>C COCA-CN 12 110463582 110463582 single base substitution A C upstream_gene_variant COCA-CN 12 110463766 110463766 single base substitution T C downstream_gene_variant COCA-CN 12 110463766 110463766 single base substitution T C intron_variant COCA-CN 12 110463766 110463766 single base substitution T C upstream_gene_variant COCA-CN 12 110468613 110468613 single base substitution T A downstream_gene_variant COCA-CN 12 110468613 110468613 single base substitution T A intron_variant COCA-CN 12 110480158 110480158 single base substitution A G downstream_gene_variant COCA-CN 12 110480890 110480890 single base substitution C A downstream_gene_variant ESAD-UK 12 110433755 110433755 single base substitution G A upstream_gene_variant ESAD-UK 12 110434425 110434429 deletion of <=200bp GTCAA - upstream_gene_variant ESAD-UK 12 110441020 110441020 single base substitution C T intron_variant ESAD-UK 12 110441761 110441761 single base substitution A C intron_variant ESAD-UK 12 110442935 110442935 single base substitution T G intron_variant ESAD-UK 12 110443659 110443659 single base substitution T C intron_variant ESAD-UK 12 110444653 110444653 single base substitution G A intron_variant ESAD-UK 12 110446570 110446570 single base substitution A C intron_variant ESAD-UK 12 110446629 110446629 single base substitution G A intron_variant ESAD-UK 12 110446812 110446812 single base substitution C T intron_variant ESAD-UK 12 110449531 110449531 single base substitution C T intron_variant ESAD-UK 12 110451584 110451584 single base substitution G T intron_variant ESAD-UK 12 110451584 110451584 single base substitution G T upstream_gene_variant ESAD-UK 12 110452138 110452138 single base substitution A G intron_variant ESAD-UK 12 110452138 110452138 single base substitution A G upstream_gene_variant ESAD-UK 12 110455462 110455462 single base substitution G A intron_variant ESAD-UK 12 110455462 110455462 single base substitution G A upstream_gene_variant ESAD-UK 12 110458268 110458268 single base substitution A T intron_variant ESAD-UK 12 110458268 110458268 single base substitution A T upstream_gene_variant ESAD-UK 12 110459293 110459293 single base substitution C T exon_variant ESAD-UK 12 110459293 110459293 single base substitution C T intron_variant ESAD-UK 12 110459293 110459293 single base substitution C T upstream_gene_variant ESAD-UK 12 110467570 110467570 single base substitution G A downstream_gene_variant ESAD-UK 12 110467570 110467570 single base substitution G A intron_variant ESAD-UK 12 110472665 110472665 single base substitution G A downstream_gene_variant ESAD-UK 12 110472665 110472665 single base substitution G A intron_variant ESAD-UK 12 110472665 110472665 single base substitution G A upstream_gene_variant ESAD-UK 12 110476479 110476479 single base substitution G A 3_prime_UTR_variant ESAD-UK 12 110476479 110476479 single base substitution G A downstream_gene_variant ESAD-UK 12 110476479 110476479 single base substitution G A exon_variant ESAD-UK 12 110476693 110476693 deletion of <=200bp C - 3_prime_UTR_variant ESAD-UK 12 110476693 110476693 deletion of <=200bp C - downstream_gene_variant ESAD-UK 12 110476693 110476693 deletion of <=200bp C - exon_variant ESAD-UK 12 110478594 110478594 single base substitution G A downstream_gene_variant ESCA-CN 12 110463620 110463620 single base substitution G A 3_prime_UTR_variant ESCA-CN 12 110463620 110463620 single base substitution G A downstream_gene_variant ESCA-CN 12 110463620 110463620 single base substitution G A exon_variant ESCA-CN 12 110463620 110463620 single base substitution G A missense_variant R145K 434G>A ESCA-CN 12 110463620 110463620 single base substitution G A missense_variant R292K 875G>A ESCA-CN 12 110463620 110463620 single base substitution G A upstream_gene_variant ESCA-CN 12 110471741 110471741 single base substitution G A downstream_gene_variant ESCA-CN 12 110471741 110471741 single base substitution G A exon_variant ESCA-CN 12 110471741 110471741 single base substitution G A intron_variant ESCA-CN 12 110471741 110471741 single base substitution G A splice_region_variant ESCA-CN 12 110471741 110471741 single base substitution G A synonymous_variant L496L 1488G>A ESCA-CN 12 110471741 110471741 single base substitution G A upstream_gene_variant KIRP-US 12 110457067 110457067 single base substitution T C exon_variant KIRP-US 12 110457067 110457067 single base substitution T C missense_variant V223A 668T>C KIRP-US 12 110457067 110457067 single base substitution T C missense_variant V76A 227T>C KIRP-US 12 110457067 110457067 single base substitution T C upstream_gene_variant LICA-CN 12 110451034 110451034 single base substitution C G exon_variant LICA-CN 12 110451034 110451034 single base substitution C G missense_variant L112V 334C>G LICA-FR 12 110448849 110448849 single base substitution G A intron_variant LICA-FR 12 110467798 110467798 single base substitution T C downstream_gene_variant LICA-FR 12 110467798 110467798 single base substitution T C intron_variant LICA-FR 12 110473205 110473205 single base substitution T G downstream_gene_variant LICA-FR 12 110473205 110473205 single base substitution T G intron_variant LICA-FR 12 110473205 110473205 single base substitution T G upstream_gene_variant LINC-JP 12 110454002 110454002 single base substitution C A intron_variant LINC-JP 12 110454002 110454002 single base substitution C A upstream_gene_variant LINC-JP 12 110455941 110455941 single base substitution C T intron_variant LINC-JP 12 110455941 110455941 single base substitution C T upstream_gene_variant LINC-JP 12 110462285 110462285 single base substitution C T downstream_gene_variant LINC-JP 12 110462285 110462285 single base substitution C T intron_variant LINC-JP 12 110462285 110462285 single base substitution C T upstream_gene_variant LINC-JP 12 110465438 110465438 single base substitution T C intron_variant LINC-JP 12 110465438 110465438 single base substitution T C upstream_gene_variant LINC-JP 12 110468089 110468089 single base substitution A G downstream_gene_variant LINC-JP 12 110468089 110468089 single base substitution A G intron_variant LINC-JP 12 110468423 110468423 single base substitution T G downstream_gene_variant LINC-JP 12 110468423 110468423 single base substitution T G intron_variant LINC-JP 12 110479531 110479531 single base substitution A G downstream_gene_variant LINC-JP 12 110481679 110481679 single base substitution A C downstream_gene_variant LIRI-JP 12 110433509 110433509 single base substitution G C upstream_gene_variant LIRI-JP 12 110435578 110435578 single base substitution T C upstream_gene_variant LIRI-JP 12 110435785 110435785 single base substitution A C upstream_gene_variant LIRI-JP 12 110438005 110438005 single base substitution G A intron_variant LIRI-JP 12 110440752 110440752 single base substitution C G intron_variant LIRI-JP 12 110440754 110440754 single base substitution T G intron_variant LIRI-JP 12 110444519 110444519 single base substitution A T intron_variant LIRI-JP 12 110447469 110447469 single base substitution G A intron_variant LIRI-JP 12 110447649 110447649 single base substitution G C intron_variant LIRI-JP 12 110448240 110448240 single base substitution G A intron_variant LIRI-JP 12 110448828 110448828 single base substitution T G intron_variant LIRI-JP 12 110448998 110448998 single base substitution G C intron_variant LIRI-JP 12 110449200 110449200 single base substitution G T intron_variant LIRI-JP 12 110449292 110449292 single base substitution G A intron_variant LIRI-JP 12 110449520 110449520 single base substitution G A intron_variant LIRI-JP 12 110449631 110449631 single base substitution A G intron_variant LIRI-JP 12 110451160 110451160 single base substitution T A intron_variant LIRI-JP 12 110452397 110452397 single base substitution A G intron_variant LIRI-JP 12 110452397 110452397 single base substitution A G upstream_gene_variant LIRI-JP 12 110457077 110457077 single base substitution G A exon_variant LIRI-JP 12 110457077 110457077 single base substitution G A synonymous_variant R226R 678G>A LIRI-JP 12 110457077 110457077 single base substitution G A synonymous_variant R79R 237G>A LIRI-JP 12 110457077 110457077 single base substitution G A upstream_gene_variant LIRI-JP 12 110459418 110459418 single base substitution C T exon_variant LIRI-JP 12 110459418 110459418 single base substitution C T intron_variant LIRI-JP 12 110459418 110459418 single base substitution C T upstream_gene_variant LIRI-JP 12 110460758 110460758 single base substitution A G downstream_gene_variant LIRI-JP 12 110460758 110460758 single base substitution A G intron_variant LIRI-JP 12 110460758 110460758 single base substitution A G upstream_gene_variant LIRI-JP 12 110462395 110462395 single base substitution T C downstream_gene_variant LIRI-JP 12 110462395 110462395 single base substitution T C intron_variant LIRI-JP 12 110462395 110462395 single base substitution T C upstream_gene_variant LIRI-JP 12 110463604 110463604 single base substitution G T 3_prime_UTR_variant LIRI-JP 12 110463604 110463604 single base substitution G T downstream_gene_variant LIRI-JP 12 110463604 110463604 single base substitution G T exon_variant LIRI-JP 12 110463604 110463604 single base substitution G T stop_gained E140* 418G>T LIRI-JP 12 110463604 110463604 single base substitution G T stop_gained E287* 859G>T LIRI-JP 12 110463604 110463604 single base substitution G T upstream_gene_variant LIRI-JP 12 110463694 110463694 single base substitution G A downstream_gene_variant LIRI-JP 12 110463694 110463694 single base substitution G A intron_variant LIRI-JP 12 110463694 110463694 single base substitution G A upstream_gene_variant LIRI-JP 12 110466032 110466032 single base substitution T G exon_variant LIRI-JP 12 110466032 110466032 single base substitution T G intron_variant LIRI-JP 12 110466032 110466032 single base substitution T G upstream_gene_variant LIRI-JP 12 110466075 110466075 single base substitution A G exon_variant LIRI-JP 12 110466075 110466075 single base substitution A G intron_variant LIRI-JP 12 110466075 110466075 single base substitution A G upstream_gene_variant LIRI-JP 12 110470091 110470091 single base substitution T G downstream_gene_variant LIRI-JP 12 110470091 110470091 single base substitution T G intron_variant LIRI-JP 12 110470091 110470091 single base substitution T G upstream_gene_variant LIRI-JP 12 110473967 110473967 single base substitution A C intron_variant LIRI-JP 12 110473967 110473967 single base substitution A C upstream_gene_variant LIRI-JP 12 110474469 110474469 single base substitution A C downstream_gene_variant LIRI-JP 12 110474469 110474469 single base substitution A C intron_variant LIRI-JP 12 110475963 110475963 single base substitution A G 3_prime_UTR_variant LIRI-JP 12 110475963 110475963 single base substitution A G downstream_gene_variant LIRI-JP 12 110475963 110475963 single base substitution A G exon_variant LIRI-JP 12 110475968 110475968 single base substitution A T 3_prime_UTR_variant LIRI-JP 12 110475968 110475968 single base substitution A T downstream_gene_variant LIRI-JP 12 110475968 110475968 single base substitution A T exon_variant LIRI-JP 12 110476329 110476329 single base substitution T C 3_prime_UTR_variant LIRI-JP 12 110476329 110476329 single base substitution T C downstream_gene_variant LIRI-JP 12 110476329 110476329 single base substitution T C exon_variant LIRI-JP 12 110477723 110477723 single base substitution T G downstream_gene_variant LIRI-JP 12 110478248 110478260 deletion of <=200bp GCTCTATAAACAA - downstream_gene_variant LIRI-JP 12 110478401 110478401 single base substitution G A downstream_gene_variant LIRI-JP 12 110478985 110478985 single base substitution G A downstream_gene_variant LIRI-JP 12 110478986 110478986 single base substitution A T downstream_gene_variant LIRI-JP 12 110480452 110480452 single base substitution A C downstream_gene_variant LIRI-JP 12 110482218 110482218 single base substitution C T downstream_gene_variant LUSC-KR 12 110444738 110444738 single base substitution C G intron_variant LUSC-KR 12 110445663 110445663 single base substitution A G intron_variant LUSC-KR 12 110446054 110446054 single base substitution G T intron_variant LUSC-KR 12 110448377 110448377 single base substitution G A intron_variant LUSC-KR 12 110448639 110448639 single base substitution G T intron_variant LUSC-KR 12 110456175 110456175 single base substitution A G exon_variant LUSC-KR 12 110456175 110456175 single base substitution A G synonymous_variant P142P 426A>G LUSC-KR 12 110456175 110456175 single base substitution A G upstream_gene_variant LUSC-KR 12 110463537 110463537 single base substitution C T downstream_gene_variant LUSC-KR 12 110463537 110463537 single base substitution C T intron_variant LUSC-KR 12 110463537 110463537 single base substitution C T upstream_gene_variant LUSC-KR 12 110468676 110468676 single base substitution G A downstream_gene_variant LUSC-KR 12 110468676 110468676 single base substitution G A intron_variant LUSC-KR 12 110468956 110468956 single base substitution C G downstream_gene_variant LUSC-KR 12 110468956 110468956 single base substitution C G intron_variant LUSC-KR 12 110474070 110474070 single base substitution T C exon_variant LUSC-KR 12 110474070 110474070 single base substitution T C intron_variant LUSC-KR 12 110474070 110474070 single base substitution T C missense_variant L505P 1514T>C LUSC-KR 12 110474070 110474070 single base substitution T C synonymous_variant T68T 204T>C LUSC-KR 12 110475537 110475537 single base substitution C T 3_prime_UTR_variant LUSC-KR 12 110475537 110475537 single base substitution C T downstream_gene_variant LUSC-KR 12 110475537 110475537 single base substitution C T exon_variant LUSC-KR 12 110476595 110476595 single base substitution T A 3_prime_UTR_variant LUSC-KR 12 110476595 110476595 single base substitution T A downstream_gene_variant LUSC-KR 12 110476595 110476595 single base substitution T A exon_variant LUSC-US 12 110450962 110450962 single base substitution G T 5_prime_UTR_variant LUSC-US 12 110450962 110450962 single base substitution G T exon_variant LUSC-US 12 110450962 110450962 single base substitution G T stop_gained E88* 262G>T LUSC-US 12 110480255 110480255 single base substitution C T downstream_gene_variant MALY-DE 12 110438048 110438048 single base substitution C G intron_variant MALY-DE 12 110438567 110438567 single base substitution T A intron_variant MALY-DE 12 110447146 110447147 deletion of <=200bp AA - intron_variant MALY-DE 12 110451846 110451846 single base substitution G C intron_variant MALY-DE 12 110451846 110451846 single base substitution G C upstream_gene_variant MALY-DE 12 110455263 110455263 single base substitution C G intron_variant MALY-DE 12 110455263 110455263 single base substitution C G upstream_gene_variant MALY-DE 12 110457575 110457575 insertion of <=200bp - TGTT intron_variant MALY-DE 12 110457575 110457575 insertion of <=200bp - TGTT upstream_gene_variant MALY-DE 12 110459159 110459159 deletion of <=200bp T - exon_variant MALY-DE 12 110459159 110459159 deletion of <=200bp T - intron_variant MALY-DE 12 110459159 110459159 deletion of <=200bp T - upstream_gene_variant MALY-DE 12 110461100 110461100 single base substitution T C downstream_gene_variant MALY-DE 12 110461100 110461100 single base substitution T C intron_variant MALY-DE 12 110461100 110461100 single base substitution T C upstream_gene_variant MALY-DE 12 110467729 110467729 single base substitution G A downstream_gene_variant MALY-DE 12 110467729 110467729 single base substitution G A intron_variant MALY-DE 12 110472166 110472166 single base substitution G A downstream_gene_variant MALY-DE 12 110472166 110472166 single base substitution G A intron_variant MALY-DE 12 110472166 110472166 single base substitution G A upstream_gene_variant MALY-DE 12 110478234 110478234 single base substitution T C downstream_gene_variant MALY-DE 12 110481901 110481901 single base substitution A G downstream_gene_variant MELA-AU 12 110433031 110433031 single base substitution C T upstream_gene_variant MELA-AU 12 110433928 110433928 single base substitution G A upstream_gene_variant MELA-AU 12 110434225 110434225 single base substitution G A upstream_gene_variant MELA-AU 12 110434230 110434230 single base substitution G A upstream_gene_variant MELA-AU 12 110434446 110434446 single base substitution C T upstream_gene_variant MELA-AU 12 110434656 110434656 single base substitution G A upstream_gene_variant MELA-AU 12 110434691 110434691 single base substitution G A upstream_gene_variant MELA-AU 12 110434938 110434938 single base substitution G A upstream_gene_variant MELA-AU 12 110434997 110434997 single base substitution G A upstream_gene_variant MELA-AU 12 110435092 110435092 single base substitution G A upstream_gene_variant MELA-AU 12 110435489 110435489 single base substitution G A upstream_gene_variant MELA-AU 12 110435899 110435899 single base substitution G A upstream_gene_variant MELA-AU 12 110436014 110436014 single base substitution G A upstream_gene_variant MELA-AU 12 110436045 110436045 single base substitution C T upstream_gene_variant MELA-AU 12 110436963 110436963 single base substitution G A upstream_gene_variant MELA-AU 12 110436968 110436968 single base substitution G A upstream_gene_variant MELA-AU 12 110436979 110436979 single base substitution G A upstream_gene_variant MELA-AU 12 110437002 110437002 single base substitution G A 5_prime_UTR_variant MELA-AU 12 110437002 110437002 single base substitution G A upstream_gene_variant MELA-AU 12 110437003 110437003 single base substitution G A 5_prime_UTR_variant MELA-AU 12 110437003 110437003 single base substitution G A upstream_gene_variant MELA-AU 12 110437045 110437045 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 12 110437045 110437045 single base substitution C T upstream_gene_variant MELA-AU 12 110437136 110437136 single base substitution G A intron_variant MELA-AU 12 110437136 110437136 single base substitution G A upstream_gene_variant MELA-AU 12 110437663 110437663 single base substitution C T intron_variant MELA-AU 12 110438046 110438046 single base substitution A G intron_variant MELA-AU 12 110438705 110438705 single base substitution G A intron_variant MELA-AU 12 110439086 110439086 single base substitution G A intron_variant MELA-AU 12 110439511 110439511 single base substitution C T intron_variant MELA-AU 12 110439686 110439686 single base substitution C T intron_variant MELA-AU 12 110440348 110440348 single base substitution G T intron_variant MELA-AU 12 110441661 110441661 single base substitution C T intron_variant MELA-AU 12 110443525 110443525 single base substitution G A intron_variant MELA-AU 12 110443633 110443633 single base substitution C T intron_variant MELA-AU 12 110444093 110444093 single base substitution C T intron_variant MELA-AU 12 110444989 110444989 single base substitution C T intron_variant MELA-AU 12 110445383 110445383 single base substitution C T intron_variant MELA-AU 12 110445426 110445426 single base substitution C T intron_variant MELA-AU 12 110445654 110445654 single base substitution T C intron_variant MELA-AU 12 110445994 110445994 single base substitution G T intron_variant MELA-AU 12 110446545 110446545 single base substitution C T intron_variant MELA-AU 12 110447082 110447082 single base substitution C T intron_variant MELA-AU 12 110447417 110447417 single base substitution G A intron_variant MELA-AU 12 110447548 110447548 single base substitution C A intron_variant MELA-AU 12 110447835 110447835 single base substitution C G intron_variant MELA-AU 12 110447929 110447929 single base substitution C A intron_variant MELA-AU 12 110449450 110449450 single base substitution C T intron_variant MELA-AU 12 110449677 110449677 single base substitution C T intron_variant MELA-AU 12 110449862 110449862 single base substitution C T 5_prime_UTR_variant MELA-AU 12 110449862 110449862 single base substitution C T exon_variant MELA-AU 12 110449862 110449862 single base substitution C T missense_variant S50F 149C>T MELA-AU 12 110449932 110449932 single base substitution G A 5_prime_UTR_variant MELA-AU 12 110449932 110449932 single base substitution G A exon_variant MELA-AU 12 110449932 110449932 single base substitution G A synonymous_variant Q73Q 219G>A MELA-AU 12 110450502 110450502 single base substitution C T intron_variant MELA-AU 12 110450867 110450867 single base substitution T C intron_variant MELA-AU 12 110450985 110450985 single base substitution A G exon_variant MELA-AU 12 110450985 110450985 single base substitution A G synonymous_variant Q95Q 285A>G MELA-AU 12 110451564 110451564 single base substitution C T intron_variant MELA-AU 12 110451564 110451564 single base substitution C T upstream_gene_variant MELA-AU 12 110451882 110451882 single base substitution A T intron_variant MELA-AU 12 110451882 110451882 single base substitution A T upstream_gene_variant MELA-AU 12 110452302 110452302 single base substitution A T intron_variant MELA-AU 12 110452302 110452302 single base substitution A T upstream_gene_variant MELA-AU 12 110453462 110453462 single base substitution C T intron_variant MELA-AU 12 110453462 110453462 single base substitution C T upstream_gene_variant MELA-AU 12 110453475 110453475 single base substitution C T intron_variant MELA-AU 12 110453475 110453475 single base substitution C T upstream_gene_variant MELA-AU 12 110453597 110453597 single base substitution C T intron_variant MELA-AU 12 110453597 110453597 single base substitution C T upstream_gene_variant MELA-AU 12 110453999 110453999 single base substitution C G intron_variant MELA-AU 12 110453999 110453999 single base substitution C G upstream_gene_variant MELA-AU 12 110454155 110454155 single base substitution C T intron_variant MELA-AU 12 110454155 110454155 single base substitution C T upstream_gene_variant MELA-AU 12 110454203 110454203 single base substitution T C exon_variant MELA-AU 12 110454203 110454203 single base substitution T C missense_variant F122S 365T>C MELA-AU 12 110454203 110454203 single base substitution T C upstream_gene_variant MELA-AU 12 110455540 110455541 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 110455540 110455541 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 12 110456478 110456478 single base substitution C T intron_variant MELA-AU 12 110456478 110456478 single base substitution C T upstream_gene_variant MELA-AU 12 110457861 110457861 single base substitution T C intron_variant MELA-AU 12 110457861 110457861 single base substitution T C upstream_gene_variant MELA-AU 12 110457944 110457944 single base substitution G A intron_variant MELA-AU 12 110457944 110457944 single base substitution G A upstream_gene_variant MELA-AU 12 110458007 110458007 single base substitution C T intron_variant MELA-AU 12 110458007 110458007 single base substitution C T upstream_gene_variant MELA-AU 12 110458504 110458504 single base substitution T A intron_variant MELA-AU 12 110458504 110458504 single base substitution T A upstream_gene_variant MELA-AU 12 110459115 110459115 single base substitution G A exon_variant MELA-AU 12 110459115 110459115 single base substitution G A intron_variant MELA-AU 12 110459115 110459115 single base substitution G A upstream_gene_variant MELA-AU 12 110459575 110459575 single base substitution C T exon_variant MELA-AU 12 110459575 110459575 single base substitution C T intron_variant MELA-AU 12 110459575 110459575 single base substitution C T upstream_gene_variant MELA-AU 12 110459607 110459607 single base substitution C T exon_variant MELA-AU 12 110459607 110459607 single base substitution C T intron_variant MELA-AU 12 110459607 110459607 single base substitution C T upstream_gene_variant MELA-AU 12 110459679 110459679 single base substitution A T exon_variant MELA-AU 12 110459679 110459679 single base substitution A T intron_variant MELA-AU 12 110459679 110459679 single base substitution A T upstream_gene_variant MELA-AU 12 110459682 110459682 single base substitution T C exon_variant MELA-AU 12 110459682 110459682 single base substitution T C intron_variant MELA-AU 12 110459682 110459682 single base substitution T C upstream_gene_variant MELA-AU 12 110459728 110459728 single base substitution G A exon_variant MELA-AU 12 110459728 110459728 single base substitution G A intron_variant MELA-AU 12 110459728 110459728 single base substitution G A upstream_gene_variant MELA-AU 12 110459826 110459826 single base substitution G A exon_variant MELA-AU 12 110459826 110459826 single base substitution G A intron_variant MELA-AU 12 110459826 110459826 single base substitution G A upstream_gene_variant MELA-AU 12 110460034 110460034 single base substitution C T exon_variant MELA-AU 12 110460034 110460034 single base substitution C T intron_variant MELA-AU 12 110460034 110460034 single base substitution C T upstream_gene_variant MELA-AU 12 110461829 110461829 single base substitution T C downstream_gene_variant MELA-AU 12 110461829 110461829 single base substitution T C exon_variant MELA-AU 12 110461829 110461829 single base substitution T C intron_variant MELA-AU 12 110461829 110461829 single base substitution T C upstream_gene_variant MELA-AU 12 110461953 110461953 single base substitution C T downstream_gene_variant MELA-AU 12 110461953 110461953 single base substitution C T intron_variant MELA-AU 12 110461953 110461953 single base substitution C T upstream_gene_variant MELA-AU 12 110462919 110462919 single base substitution G T downstream_gene_variant MELA-AU 12 110462919 110462919 single base substitution G T intron_variant MELA-AU 12 110462919 110462919 single base substitution G T upstream_gene_variant MELA-AU 12 110463383 110463383 single base substitution T C downstream_gene_variant MELA-AU 12 110463383 110463383 single base substitution T C intron_variant MELA-AU 12 110463383 110463383 single base substitution T C upstream_gene_variant MELA-AU 12 110463947 110463947 single base substitution C T downstream_gene_variant MELA-AU 12 110463947 110463947 single base substitution C T intron_variant MELA-AU 12 110463947 110463947 single base substitution C T upstream_gene_variant MELA-AU 12 110463967 110463967 single base substitution C T downstream_gene_variant MELA-AU 12 110463967 110463967 single base substitution C T intron_variant MELA-AU 12 110463967 110463967 single base substitution C T upstream_gene_variant MELA-AU 12 110467365 110467365 single base substitution C T 3_prime_UTR_variant MELA-AU 12 110467365 110467365 single base substitution C T exon_variant MELA-AU 12 110467365 110467365 single base substitution C T stop_gained R239* 715C>T MELA-AU 12 110467365 110467365 single base substitution C T stop_gained R387* 1159C>T MELA-AU 12 110467365 110467365 single base substitution C T stop_gained R4* 10C>T MELA-AU 12 110467365 110467365 single base substitution C T stop_gained R56* 166C>T MELA-AU 12 110467691 110467691 single base substitution A T downstream_gene_variant MELA-AU 12 110467691 110467691 single base substitution A T intron_variant MELA-AU 12 110468007 110468007 single base substitution T C downstream_gene_variant MELA-AU 12 110468007 110468007 single base substitution T C intron_variant MELA-AU 12 110468792 110468792 single base substitution C T downstream_gene_variant MELA-AU 12 110468792 110468792 single base substitution C T intron_variant MELA-AU 12 110469878 110469878 single base substitution G A downstream_gene_variant MELA-AU 12 110469878 110469878 single base substitution G A intron_variant MELA-AU 12 110469878 110469878 single base substitution G A upstream_gene_variant MELA-AU 12 110472158 110472158 single base substitution C T downstream_gene_variant MELA-AU 12 110472158 110472158 single base substitution C T intron_variant MELA-AU 12 110472158 110472158 single base substitution C T upstream_gene_variant MELA-AU 12 110472518 110472518 single base substitution C T downstream_gene_variant MELA-AU 12 110472518 110472518 single base substitution C T intron_variant MELA-AU 12 110472518 110472518 single base substitution C T upstream_gene_variant MELA-AU 12 110472909 110472909 single base substitution A G downstream_gene_variant MELA-AU 12 110472909 110472909 single base substitution A G intron_variant MELA-AU 12 110472909 110472909 single base substitution A G upstream_gene_variant MELA-AU 12 110472952 110472952 single base substitution C T downstream_gene_variant MELA-AU 12 110472952 110472952 single base substitution C T intron_variant MELA-AU 12 110472952 110472952 single base substitution C T upstream_gene_variant MELA-AU 12 110473100 110473100 single base substitution C T downstream_gene_variant MELA-AU 12 110473100 110473100 single base substitution C T intron_variant MELA-AU 12 110473100 110473100 single base substitution C T upstream_gene_variant MELA-AU 12 110478447 110478447 single base substitution T A downstream_gene_variant MELA-AU 12 110478808 110478808 single base substitution G T downstream_gene_variant MELA-AU 12 110481671 110481671 single base substitution A C downstream_gene_variant MELA-AU 12 110482014 110482014 single base substitution G A downstream_gene_variant MELA-AU 12 110482081 110482081 single base substitution G T downstream_gene_variant MELA-AU 12 110482205 110482205 single base substitution C A downstream_gene_variant MELA-AU 12 110482539 110482539 single base substitution G A downstream_gene_variant ORCA-IN 12 110473483 110473483 single base substitution G C downstream_gene_variant ORCA-IN 12 110473483 110473483 single base substitution G C intron_variant ORCA-IN 12 110473483 110473483 single base substitution G C upstream_gene_variant OV-AU 12 110435253 110435253 single base substitution T A upstream_gene_variant OV-AU 12 110443160 110443160 single base substitution G C intron_variant OV-AU 12 110443808 110443808 single base substitution G C intron_variant OV-AU 12 110463289 110463289 single base substitution G T downstream_gene_variant OV-AU 12 110463289 110463289 single base substitution G T intron_variant OV-AU 12 110463289 110463289 single base substitution G T upstream_gene_variant OV-AU 12 110467373 110467373 single base substitution T G 3_prime_UTR_variant OV-AU 12 110467373 110467373 single base substitution T G exon_variant OV-AU 12 110467373 110467373 single base substitution T G missense_variant S241R 723T>G OV-AU 12 110467373 110467373 single base substitution T G missense_variant S389R 1167T>G OV-AU 12 110467373 110467373 single base substitution T G missense_variant S58R 174T>G OV-AU 12 110467373 110467373 single base substitution T G missense_variant S6R 18T>G OV-AU 12 110468757 110468757 single base substitution G A downstream_gene_variant OV-AU 12 110468757 110468757 single base substitution G A intron_variant OV-AU 12 110471749 110471749 single base substitution C G downstream_gene_variant OV-AU 12 110471749 110471749 single base substitution C G exon_variant OV-AU 12 110471749 110471749 single base substitution C G intron_variant OV-AU 12 110471749 110471749 single base substitution C G missense_variant S499C 1496C>G OV-AU 12 110471749 110471749 single base substitution C G upstream_gene_variant OV-AU 12 110471773 110471773 single base substitution C G downstream_gene_variant OV-AU 12 110471773 110471773 single base substitution C G intron_variant OV-AU 12 110471773 110471773 single base substitution C G upstream_gene_variant OV-AU 12 110482303 110482303 single base substitution T C downstream_gene_variant PACA-AU 12 110433224 110433224 single base substitution A T upstream_gene_variant PACA-AU 12 110437094 110437094 single base substitution G A 5_prime_UTR_variant PACA-AU 12 110437094 110437094 single base substitution G A upstream_gene_variant PACA-AU 12 110438648 110438648 single base substitution C T intron_variant PACA-AU 12 110442313 110442313 single base substitution G A intron_variant PACA-AU 12 110443026 110443026 single base substitution A C intron_variant PACA-AU 12 110446668 110446668 single base substitution C T intron_variant PACA-AU 12 110446878 110446880 deletion of <=200bp TCT - intron_variant PACA-AU 12 110457584 110457584 single base substitution G A intron_variant PACA-AU 12 110457584 110457584 single base substitution G A upstream_gene_variant PACA-AU 12 110461293 110461293 single base substitution A G downstream_gene_variant PACA-AU 12 110461293 110461293 single base substitution A G intron_variant PACA-AU 12 110461293 110461293 single base substitution A G upstream_gene_variant PACA-AU 12 110467766 110467769 deletion of <=200bp TTAT - downstream_gene_variant PACA-AU 12 110467766 110467769 deletion of <=200bp TTAT - intron_variant PACA-AU 12 110475863 110475863 single base substitution A G 3_prime_UTR_variant PACA-AU 12 110475863 110475863 single base substitution A G downstream_gene_variant PACA-AU 12 110475863 110475863 single base substitution A G exon_variant PACA-AU 12 110481678 110481678 insertion of <=200bp - AC downstream_gene_variant PACA-AU 12 110482089 110482089 single base substitution T C downstream_gene_variant PACA-AU 12 110482425 110482425 deletion of <=200bp C - downstream_gene_variant PACA-CA 12 110433704 110433704 single base substitution G A upstream_gene_variant PACA-CA 12 110436977 110436977 single base substitution G T upstream_gene_variant PACA-CA 12 110438289 110438289 single base substitution T G intron_variant PACA-CA 12 110438291 110438291 single base substitution A T intron_variant PACA-CA 12 110438503 110438503 single base substitution C T intron_variant PACA-CA 12 110441393 110441393 single base substitution G T intron_variant PACA-CA 12 110448991 110448991 deletion of <=200bp T - intron_variant PACA-CA 12 110450171 110450171 deletion of <=200bp A - intron_variant PACA-CA 12 110451126 110451126 single base substitution C T intron_variant PACA-CA 12 110454298 110454298 single base substitution G T intron_variant PACA-CA 12 110454298 110454298 single base substitution G T upstream_gene_variant PACA-CA 12 110456189 110456189 single base substitution G A 5_prime_UTR_variant PACA-CA 12 110456189 110456189 single base substitution G A exon_variant PACA-CA 12 110456189 110456189 single base substitution G A missense_variant R147H 440G>A PACA-CA 12 110457963 110457963 single base substitution C T intron_variant PACA-CA 12 110457963 110457963 single base substitution C T upstream_gene_variant PACA-CA 12 110459234 110459234 single base substitution T C exon_variant PACA-CA 12 110459234 110459234 single base substitution T C intron_variant PACA-CA 12 110459234 110459234 single base substitution T C upstream_gene_variant PACA-CA 12 110460855 110460855 single base substitution G A downstream_gene_variant PACA-CA 12 110460855 110460855 single base substitution G A intron_variant PACA-CA 12 110460855 110460855 single base substitution G A upstream_gene_variant PACA-CA 12 110461770 110461770 single base substitution A G downstream_gene_variant PACA-CA 12 110461770 110461770 single base substitution A G exon_variant PACA-CA 12 110461770 110461770 single base substitution A G intron_variant PACA-CA 12 110461770 110461770 single base substitution A G upstream_gene_variant PACA-CA 12 110466032 110466033 deletion of <=200bp TC - exon_variant PACA-CA 12 110466032 110466033 deletion of <=200bp TC - intron_variant PACA-CA 12 110466032 110466033 deletion of <=200bp TC - upstream_gene_variant PACA-CA 12 110466960 110466960 single base substitution T C exon_variant PACA-CA 12 110466960 110466960 single base substitution T C intron_variant PACA-CA 12 110466960 110466960 single base substitution T C upstream_gene_variant PACA-CA 12 110468834 110468834 single base substitution C T downstream_gene_variant PACA-CA 12 110468834 110468834 single base substitution C T intron_variant PACA-CA 12 110474011 110474011 single base substitution A G intron_variant PACA-CA 12 110474011 110474011 single base substitution A G upstream_gene_variant PACA-CA 12 110474756 110474756 deletion of <=200bp A - downstream_gene_variant PACA-CA 12 110474756 110474756 deletion of <=200bp A - intron_variant PACA-CA 12 110479629 110479629 single base substitution G C downstream_gene_variant PACA-CA 12 110480815 110480815 single base substitution G T downstream_gene_variant PACA-CA 12 110481097 110481097 single base substitution T A downstream_gene_variant PAEN-IT 12 110444312 110444312 single base substitution G T intron_variant PAEN-IT 12 110448299 110448299 single base substitution G C intron_variant PBCA-DE 12 110443650 110443650 insertion of <=200bp - AGT intron_variant PBCA-DE 12 110448354 110448354 single base substitution C T intron_variant PBCA-DE 12 110450006 110450006 deletion of <=200bp A - intron_variant PBCA-DE 12 110452022 110452033 deletion of <=200bp CCTGACTAACAC - intron_variant PBCA-DE 12 110452022 110452033 deletion of <=200bp CCTGACTAACAC - upstream_gene_variant PBCA-DE 12 110474807 110474807 single base substitution G A downstream_gene_variant PBCA-DE 12 110474807 110474807 single base substitution G A intron_variant PRAD-UK 12 110443878 110443878 single base substitution T C intron_variant PRAD-UK 12 110451360 110451360 single base substitution C G intron_variant PRAD-UK 12 110451360 110451360 single base substitution C G upstream_gene_variant PRAD-UK 12 110471351 110471351 single base substitution C A downstream_gene_variant PRAD-UK 12 110471351 110471351 single base substitution C A intron_variant PRAD-UK 12 110471351 110471351 single base substitution C A upstream_gene_variant RECA-EU 12 110441478 110441478 single base substitution C T intron_variant RECA-EU 12 110466599 110466599 single base substitution G T intron_variant RECA-EU 12 110466599 110466599 single base substitution G T upstream_gene_variant RECA-EU 12 110473251 110473251 single base substitution T A downstream_gene_variant RECA-EU 12 110473251 110473251 single base substitution T A intron_variant RECA-EU 12 110473251 110473251 single base substitution T A upstream_gene_variant SKCA-BR 12 110433544 110433544 single base substitution A G upstream_gene_variant SKCA-BR 12 110434225 110434225 single base substitution G A upstream_gene_variant SKCA-BR 12 110438560 110438560 insertion of <=200bp - CT intron_variant SKCA-BR 12 110438912 110438912 single base substitution C T intron_variant SKCA-BR 12 110442042 110442042 single base substitution C T intron_variant SKCA-BR 12 110442473 110442473 single base substitution C T intron_variant SKCA-BR 12 110443712 110443712 single base substitution C T intron_variant SKCA-BR 12 110444824 110444824 single base substitution G A intron_variant SKCA-BR 12 110447478 110447478 single base substitution G A intron_variant SKCA-BR 12 110460274 110460274 single base substitution T G downstream_gene_variant SKCA-BR 12 110460274 110460274 single base substitution T G intron_variant SKCA-BR 12 110460274 110460274 single base substitution T G upstream_gene_variant SKCA-BR 12 110469953 110469953 single base substitution A G downstream_gene_variant SKCA-BR 12 110469953 110469953 single base substitution A G intron_variant SKCA-BR 12 110469953 110469953 single base substitution A G upstream_gene_variant SKCA-BR 12 110479451 110479451 single base substitution G A downstream_gene_variant SKCA-BR 12 110481671 110481671 insertion of <=200bp - AAAAC downstream_gene_variant SKCA-BR 12 110481836 110481836 insertion of <=200bp - TAAAG downstream_gene_variant SKCA-BR 12 110482538 110482538 single base substitution G A downstream_gene_variant SKCM-US 12 110450985 110450985 single base substitution A G exon_variant SKCM-US 12 110450985 110450985 single base substitution A G synonymous_variant Q95Q 285A>G SKCM-US 12 110451049 110451049 single base substitution C A exon_variant SKCM-US 12 110451049 110451049 single base substitution C A missense_variant L117I 349C>A SKCM-US 12 110457005 110457005 single base substitution C T exon_variant SKCM-US 12 110457005 110457005 single base substitution C T synonymous_variant F202F 606C>T SKCM-US 12 110457005 110457005 single base substitution C T synonymous_variant F55F 165C>T SKCM-US 12 110457005 110457005 single base substitution C T upstream_gene_variant SKCM-US 12 110475222 110475222 single base substitution G A 3_prime_UTR_variant SKCM-US 12 110475222 110475222 single base substitution G A downstream_gene_variant SKCM-US 12 110475222 110475222 single base substitution G A exon_variant SKCM-US 12 110475222 110475222 single base substitution G A intron_variant SKCM-US 12 110475222 110475222 single base substitution G A missense_variant E546K 1636G>A STAD-US 12 110450965 110450965 single base substitution A G exon_variant STAD-US 12 110450965 110450965 single base substitution A G missense_variant M89V 265A>G STAD-US 12 110456152 110456152 single base substitution C T missense_variant P135S 403C>T STAD-US 12 110456152 110456152 single base substitution C T splice_region_variant STAD-US 12 110456152 110456152 single base substitution C T upstream_gene_variant STAD-US 12 110457005 110457005 single base substitution C T exon_variant STAD-US 12 110457005 110457005 single base substitution C T synonymous_variant F202F 606C>T STAD-US 12 110457005 110457005 single base substitution C T synonymous_variant F55F 165C>T STAD-US 12 110457005 110457005 single base substitution C T upstream_gene_variant STAD-US 12 110461861 110461861 single base substitution G A downstream_gene_variant STAD-US 12 110461861 110461861 single base substitution G A exon_variant STAD-US 12 110461861 110461861 single base substitution G A intron_variant STAD-US 12 110461861 110461861 single base substitution G A missense_variant G102R 304G>A STAD-US 12 110461861 110461861 single base substitution G A missense_variant G249R 745G>A STAD-US 12 110461861 110461861 single base substitution G A upstream_gene_variant STAD-US 12 110461908 110461908 single base substitution C T downstream_gene_variant STAD-US 12 110461908 110461908 single base substitution C T exon_variant STAD-US 12 110461908 110461908 single base substitution C T intron_variant STAD-US 12 110461908 110461908 single base substitution C T synonymous_variant Y117Y 351C>T STAD-US 12 110461908 110461908 single base substitution C T synonymous_variant Y264Y 792C>T STAD-US 12 110461908 110461908 single base substitution C T upstream_gene_variant STAD-US 12 110474086 110474086 single base substitution G A exon_variant STAD-US 12 110474086 110474086 single base substitution G A intron_variant STAD-US 12 110474086 110474086 single base substitution G A missense_variant E74K 220G>A STAD-US 12 110474086 110474086 single base substitution G A synonymous_variant S510S 1530G>A STAD-US 12 110475232 110475232 single base substitution G A 3_prime_UTR_variant STAD-US 12 110475232 110475232 single base substitution G A downstream_gene_variant STAD-US 12 110475232 110475232 single base substitution G A exon_variant STAD-US 12 110475232 110475232 single base substitution G A intron_variant STAD-US 12 110475232 110475232 single base substitution G A missense_variant R549H 1646G>A THCA-US 12 110433982 110433982 deletion of <=200bp C - upstream_gene_variant UCEC-US 12 110449906 110449906 single base substitution G A 5_prime_UTR_variant UCEC-US 12 110449906 110449906 single base substitution G A exon_variant UCEC-US 12 110449906 110449906 single base substitution G A missense_variant A65T 193G>A UCEC-US 12 110456189 110456189 single base substitution G A 5_prime_UTR_variant UCEC-US 12 110456189 110456189 single base substitution G A exon_variant UCEC-US 12 110456189 110456189 single base substitution G A missense_variant R147H 440G>A UCEC-US 12 110456207 110456207 single base substitution C T exon_variant UCEC-US 12 110456207 110456207 single base substitution C T missense_variant A153V 458C>T UCEC-US 12 110456207 110456207 single base substitution C T missense_variant A6V 17C>T UCEC-US 12 110463586 110463586 single base substitution C T 3_prime_UTR_variant UCEC-US 12 110463586 110463586 single base substitution C T downstream_gene_variant UCEC-US 12 110463586 110463586 single base substitution C T exon_variant UCEC-US 12 110463586 110463586 single base substitution C T missense_variant R134C 400C>T UCEC-US 12 110463586 110463586 single base substitution C T missense_variant R281C 841C>T UCEC-US 12 110463586 110463586 single base substitution C T upstream_gene_variant UCEC-US 12 110463603 110463603 single base substitution C T 3_prime_UTR_variant UCEC-US 12 110463603 110463603 single base substitution C T downstream_gene_variant UCEC-US 12 110463603 110463603 single base substitution C T exon_variant UCEC-US 12 110463603 110463603 single base substitution C T synonymous_variant T139T 417C>T UCEC-US 12 110463603 110463603 single base substitution C T synonymous_variant T286T 858C>T UCEC-US 12 110463603 110463603 single base substitution C T upstream_gene_variant UCEC-US 12 110467366 110467366 single base substitution G A 3_prime_UTR_variant UCEC-US 12 110467366 110467366 single base substitution G A exon_variant UCEC-US 12 110467366 110467366 single base substitution G A missense_variant R239Q 716G>A UCEC-US 12 110467366 110467366 single base substitution G A missense_variant R387Q 1160G>A UCEC-US 12 110467366 110467366 single base substitution G A missense_variant R4Q 11G>A UCEC-US 12 110467366 110467366 single base substitution G A missense_variant R56Q 167G>A UCEC-US 12 110474085 110474085 single base substitution C T exon_variant UCEC-US 12 110474085 110474085 single base substitution C T intron_variant UCEC-US 12 110474085 110474085 single base substitution C T missense_variant S510L 1529C>T UCEC-US 12 110474085 110474085 single base substitution C T synonymous_variant F73F 219C>T UCEC-US 12 110474086 110474086 single base substitution G A exon_variant UCEC-US 12 110474086 110474086 single base substitution G A intron_variant UCEC-US 12 110474086 110474086 single base substitution G A missense_variant E74K 220G>A UCEC-US 12 110474086 110474086 single base substitution G A synonymous_variant S510S 1530G>A UCEC-US 12 110475266 110475266 single base substitution C T 3_prime_UTR_variant UCEC-US 12 110475266 110475266 single base substitution C T downstream_gene_variant UCEC-US 12 110475266 110475266 single base substitution C T exon_variant UCEC-US 12 110475266 110475266 single base substitution C T intron_variant UCEC-US 12 110475266 110475266 single base substitution C T synonymous_variant L560L 1680C>T UCEC-US 12 110480172 110480172 single base substitution C A downstream_gene_variant UCEC-US 12 110480187 110480187 single base substitution G A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BR-A4J2-01 COSM934908 c.1530G>A p.S510S Substitution - coding silent 12:110036281-110036281 + Au2 COSM5599074 c.1632G>A p.L544L Substitution - coding silent 12:110037413-110037413 + PCSI_0103_Pa_P COSM934902 c.440G>A p.R147H Substitution - Missense 12:110018384-110018384 + C10 COSM4616442 c.1399G>A p.E467K Substitution - Missense 12:110033847-110033847 + S00936 COSM309131 c.1333A>G p.T445A Substitution - Missense 12:110030743-110030743 + H_KA-804168-0814948 COSM158726 c.1432G>A p.V478M Substitution - Missense 12:110033880-110033880 + HCC061T COSM5805891 c.334C>G p.L112V Substitution - Missense 12:110013229-110013229 + TCGA-CG-5728-01 COSM1946843 c.606C>T p.F202F Substitution - coding silent 12:110019200-110019200 + TCGA-EE-A3J7-06 COSM3870711 c.349C>A p.L117I Substitution - Missense 12:110013244-110013244 + TCGA-AP-A059-01 COSM934909 c.1680C>T p.L560L Substitution - coding silent 12:110037461-110037461 + TCGA-BR-8382-01 COSM168816 c.792C>T p.Y264Y Substitution - coding silent 12:110024103-110024103 + HDC87 COSM4636881 c.220G>A p.G74R Substitution - Missense 12:110012128-110012128 + UM-SCC-11B COSM4597895 c.390C>A p.F130L Substitution - Missense 12:110016423-110016423 + I2L-P7-Tumor-Organoid COSM5361969 c.628C>T p.R210C Substitution - Missense 12:110019222-110019222 + CSB15 COSM5027692 c.1623C>T p.P541P Substitution - coding silent 12:110037404-110037404 + Pat_24_A COSM5840082 c.439C>T p.R147C Substitution - Missense 12:110018383-110018383 + PT37 COSM5920345 c.308C>T p.S103F Substitution - Missense 12:110013203-110013203 + TCGA-D3-A51J-06 COSM3870712 c.1636G>A p.E546K Substitution - Missense 12:110037417-110037417 + T1743 COSM4661755 c.709G>A p.D237N Substitution - Missense 12:110019303-110019303 + Pat_15_B COSM5840083 c.1493_1497delAGTCC p.S499fs*21 Deletion - Frameshift 12:110033941-110033945 + CSCC-41-T COSM4514952 c.992C>A p.T331K Substitution - Missense 12:110028558-110028558 + TCGA-BS-A0UV-01 COSM934904 c.841C>T p.R281C Substitution - Missense 12:110025781-110025781 + H2073 COSM1196817 c.323G>A p.G108E Substitution - Missense 12:110013218-110013218 + LUAD-S01315 COSM344104 c.97-1G>T p.? Unknown 12:110012004-110012004 + SC_9008 COSM5546911 c.866delA p.K291fs*52 Deletion - Frameshift 12:110025806-110025806 + T2940 COSM4661756 c.715delA p.N240fs*32 Deletion - Frameshift 12:110019309-110019309 + T3021 COSM4661754 c.554C>T p.A185V Substitution - Missense 12:110019148-110019148 + TCGA-FD-A3SO-01 COSM3792171 c.1346C>T p.S449L Substitution - Missense 12:110030756-110030756 + ESO-859 COSM1238185 c.351C>T p.L117L Substitution - coding silent 12:110013246-110013246 + TCGA-33-4566-01 COSM691302 c.262G>T p.E88* Substitution - Nonsense 12:110013157-110013157 + HCA7 COSM4629876 c.1489C>T p.L497L Substitution - coding silent 12:110033937-110033937 + T3724 COSM4661753 c.132A>G p.L44L Substitution - coding silent 12:110012040-110012040 + TCGA-G7-6797-01 COSM3986620 c.668T>C p.V223A Substitution - Missense 12:110019262-110019262 + TCGA-G4-6628-01 COSM1358669 c.441C>T p.R147R Substitution - coding silent 12:110018385-110018385 + AOCS-092-3-3 COSM3980753 c.1167T>G p.S389R Substitution - Missense 12:110029568-110029568 + H1993 COSM1196817 c.323G>A p.G108E Substitution - Missense 12:110013218-110013218 + ESO-0125 COSM1245010 c.184C>T p.R62* Substitution - Nonsense 12:110012092-110012092 + TCGA-AA-A010-01 COSM278837 c.1164G>A p.T388T Substitution - coding silent 12:110029565-110029565 + 587228 COSM1182844 c.521G>A p.R174H Substitution - Missense 12:110018465-110018465 + TCGA-AZ-4315-01 COSM172581 c.214C>T p.R72C Substitution - Missense 12:110012122-110012122 + 2492701 COSM5599074 c.1632G>A p.L544L Substitution - coding silent 12:110037413-110037413 + TCGA-B5-A0K2-01 COSM934901 c.193G>A p.A65T Substitution - Missense 12:110012101-110012101 + TCGA-D5-6927-01 COSM1358670 c.735-1G>T p.? Unknown 12:110024045-110024045 + ESCC_BICR_060T COSM5434847 c.1488G>A p.L496L Substitution - coding silent 12:110033936-110033936 + TCGA-B5-A11N-01 COSM934907 c.1529C>T p.S510L Substitution - Missense 12:110036280-110036280 + AML40 COSM158726 c.1432G>A p.V478M Substitution - Missense 12:110033880-110033880 + LUAD-NYU1101 COSM369265 c.674G>C p.R225P Substitution - Missense 12:110019268-110019268 + AOCS-165-1-X COSM3980754 c.1496C>G p.S499C Substitution - Missense 12:110033944-110033944 + ESO-H63 COSM1245011 c.1464G>A p.M488I Substitution - Missense 12:110033912-110033912 + 2492702 COSM5599074 c.1632G>A p.L544L Substitution - coding silent 12:110037413-110037413 + TCGA-BR-8487-01 COSM4038620 c.745G>A p.G249R Substitution - Missense 12:110024056-110024056 + 24 COSM4778044 c.498C>A p.N166K Substitution - Missense 12:110018442-110018442 + SE7PT COSM1579783 c.698A>T p.N233I Substitution - Missense 12:110019292-110019292 + TCGA-HU-A4GQ-01 COSM4038619 c.265A>G p.M89V Substitution - Missense 12:110013160-110013160 + TCGA-B6-A1KC-01 COSM1476113 c.524G>T p.S175I Substitution - Missense 12:110018468-110018468 + TCGA-BR-8680-01 COSM168816 c.792C>T p.Y264Y Substitution - coding silent 12:110024103-110024103 + SJDOSTEOS007 COSM3870712 c.1636G>A p.E546K Substitution - Missense 12:110037417-110037417 + BD175T COSM5507866 c.1222C>T p.P408S Substitution - Missense 12:110029623-110029623 + SNU-175 COSM1182844 c.521G>A p.R174H Substitution - Missense 12:110018465-110018465 + HCT8 COSM4633525 c.101T>C p.V34A Substitution - Missense 12:110012009-110012009 + TCGA-B5-A11E-01 COSM934902 c.440G>A p.R147H Substitution - Missense 12:110018384-110018384 + 2492700 COSM5599074 c.1632G>A p.L544L Substitution - coding silent 12:110037413-110037413 + PT35 COSM5913321 c.574C>T p.H192Y Substitution - Missense 12:110019168-110019168 + EGC28 COSM5051320 c.724G>A p.A242T Substitution - Missense 12:110019318-110019318 + TCGA-AA-3715-01 COSM268662 c.629G>A p.R210H Substitution - Missense 12:110019223-110019223 + TCGA-EE-A20C-06 COSM3455932 c.285A>G p.Q95Q Substitution - coding silent 12:110013180-110013180 + SE7PT COSM1579784 c.699C>G p.N233K Substitution - Missense 12:110019293-110019293 + RK308_C01 COSM3739423 c.678G>A p.R226R Substitution - coding silent 12:110019272-110019272 + TCGA-AB-2976-03 COSM158726 c.1432G>A p.V478M Substitution - Missense 12:110033880-110033880 + 2492703 COSM5599074 c.1632G>A p.L544L Substitution - coding silent 12:110037413-110037413 + TCGA-AP-A0LM-01 COSM934905 c.858C>T p.T286T Substitution - coding silent 12:110025798-110025798 + CSCC-10-T COSM4515777 c.1301_1302CC>TT p.A434V Substitution - Missense 12:110030711-110030712 + TCGA-BR-6452-01 COSM1946839 c.403C>T p.P135S Substitution - Missense 12:110018347-110018347 + CHEWS031 COSM4574992 c.1635C>T p.S545S Substitution - coding silent 12:110037416-110037416 + 1N45-VS-1T45 COSM4975771 c.172C>T p.R58* Substitution - Nonsense 12:110012080-110012080 + RKO COSM1946836 c.313G>A p.A105T Substitution - Missense 12:110013208-110013208 + TCGA-A5-A0GI-01 COSM934903 c.458C>T p.A153V Substitution - Missense 12:110018402-110018402 + TCGA-G9-6351-01 COSM3670955 c.944G>T p.G315V Substitution - Missense 12:110027765-110027765 + TCGA-GN-A26C-01 COSM1946843 c.606C>T p.F202F Substitution - coding silent 12:110019200-110019200 + TCGA-AP-A0LM-01 COSM934908 c.1530G>A p.S510S Substitution - coding silent 12:110036281-110036281 + TARGET-20-PARPWL-09A-02D COSM5487422 c.224G>A p.W75* Substitution - Nonsense 12:110012132-110012132 + TCGA-BT-A0YX-01 COSM415630 c.828G>A p.V276V Substitution - coding silent 12:110025768-110025768 + LUAD-5V8LT COSM401383 c.355-2A>T p.? Unknown 12:110016386-110016386 + ESCC-092T COSM3935732 c.875G>A p.R292K Substitution - Missense 12:110025815-110025815 + TCGA-HJ-7597-01 COSM4038621 c.1646G>A p.R549H Substitution - Missense 12:110037427-110037427 + T3024 COSM4661757 c.1564G>A p.A522T Substitution - Missense 12:110036315-110036315 + 804168 COSM158726 c.1432G>A p.V478M Substitution - Missense 12:110033880-110033880 + 12M COSM5577257 c.349C>T p.L117F Substitution - Missense 12:110013244-110013244 + TCGA-D1-A101-01 COSM934906 c.1160G>A p.R387Q Substitution - Missense 12:110029561-110029561 + TCGA-H4-A2HQ-01 COSM1298900 c.493G>C p.E165Q Substitution - Missense 12:110018437-110018437 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.528703 12q24.11 1514761|dbSNP|BC032833|A/T|non-coding||3108|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AAAAAAG - Frameshift p.K290Dfs*51 c.868_874delAAAAAGA 12 110463612 HNSC A G Missense p.T445A c.1333A>G 12 110468548 SCLC A G Synonymous p.Q95Q c.285A>G 12 110450985 CM C A Missense p.L117I c.349C>A 12 110451049 CM C A Missense p.P299Q c.896C>A 12 110465522 STAD C G Missense p.I399M c.1197C>G 12 110467403 LUAD C T IntronicSNV . c.1077-111C>T 12 110467172 CM C T IntronicSNV . c.734+2285C>T 12 110459418 HC C T IntronicSNV . c.97-4398C>T 12 110445412 CLL C T Missense p.A153V c.458C>T 12 110456207 UCEC C T Missense p.P414L c.1241C>T 12 110468456 CM C T Nonsense p.R62* c.184C>T 12 110449897 ESCA C T Synonymous p.F202F c.606C>T 12 110457005 CM C T Synonymous p.F202F c.606C>T 12 110457005 STAD C T Synonymous p.L117L c.351C>T 12 110451051 ESCA C T Synonymous p.P541P c.1623C>T 12 110475209 BRCA G A IntronicSNV . c.735-183G>A 12 110461668 CM G A Missense p.A65T c.193G>A 12 110449906 UCEC G A Missense p.M488I c.1464G>A 12 110471717 ESCA G A Missense p.R387Q c.1160G>A 12 110467366 UCEC G A Missense p.V478M c.1432G>A 12 110471685 AML G A Synonymous p.V276V c.828G>A 12 110463573 BLCA G C Missense p.E165Q c.493G>C 12 110456242 BLCA G C Missense p.E525D c.1575G>C 12 110474131 HNSC G T Missense p.S175I c.524G>T 12 110456273 BRCA T G IntronicSNV . c.946-285T>G 12 110466032 HC