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 ACC 2 224809876 224809876 + Silent SNP G G T TCGA-OR-A5LC-01A-11D-A29I-10 TCGA-OR-A5LC-10A-01D-A29L-10 g.chr2:224809876G>T c.126C>A c.(124-126)gcC>gcA p.A42A BLCA 2 224743398 224743398 + Missense_Mutation SNP G G A TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr2:224743398G>A c.1223C>T c.(1222-1224)tCt>tTt p.S408F BLCA 2 224782693 224782693 + Nonsense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 g.chr2:224782693G>A c.172C>T c.(172-174)Caa>Taa p.Q58* BRCA 2 224746709 224746709 + Silent SNP C C T TCGA-BH-A0HF-01A-11W-A071-09 TCGA-BH-A0HF-10A-01W-A071-09 g.chr2:224746709C>T c.1014G>A c.(1012-1014)gaG>gaA p.E338E BRCA 2 224746737 224746737 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr2:224746737C>T c.986G>A c.(985-987)cGc>cAc p.R329H BRCA 2 224782704 224782704 + Missense_Mutation SNP C C T TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 g.chr2:224782704C>T c.161G>A c.(160-162)aGa>aAa p.R54K CESC 2 224746785 224746785 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr2:224746785T>G c.938A>C c.(937-939)cAc>cCc p.H313P CHOL 2 224758968 224758968 + Missense_Mutation SNP C C T TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr2:224758968C>T c.814G>A c.(814-816)Gat>Aat p.D272N COAD 2 224743394 224743394 + Silent SNP C C T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr2:224743394C>T c.1227G>A c.(1225-1227)ccG>ccA p.P409P COAD 2 224743433 224743433 + Silent SNP T T C TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr2:224743433T>C c.1188A>G c.(1186-1188)acA>acG p.T396T COAD 2 224743435 224743435 + Missense_Mutation SNP T T G TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr2:224743435T>G c.1186A>C c.(1186-1188)Aca>Cca p.T396P COAD 2 224744949 224744949 + Splice_Site SNP A A G TCGA-DM-A1D4-01A-21D-A152-10 TCGA-DM-A1D4-10A-01D-A152-10 g.chr2:224744949A>G c.1065T>C c.(1063-1065)gaT>gaC p.D355D COAD 2 224758989 224758989 + Missense_Mutation SNP C C T TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr2:224758989C>T c.793G>A c.(793-795)Gga>Aga p.G265R COAD 2 224760297 224760297 + Missense_Mutation SNP C C T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr2:224760297C>T c.649G>A c.(649-651)Gga>Aga p.G217R COAD 2 224760309 224760309 + Silent SNP A A G TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr2:224760309A>G c.637T>C c.(637-639)Tta>Cta p.L213L COAD 2 224766029 224766029 + Missense_Mutation SNP G G A TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr2:224766029G>A c.356C>T c.(355-357)gCg>gTg p.A119V COAD 2 224809984 224809984 + Silent SNP G G A TCGA-CM-4752-01A-01D-1408-10 TCGA-CM-4752-10A-01D-1408-10 g.chr2:224809984G>A c.18C>T c.(16-18)caC>caT p.H6H COADREAD 2 224743394 224743394 + Silent SNP C C T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr2:224743394C>T c.1227G>A c.(1225-1227)ccG>ccA p.P409P COADREAD 2 224743433 224743433 + Silent SNP T T C TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr2:224743433T>C c.1188A>G c.(1186-1188)acA>acG p.T396T COADREAD 2 224743435 224743435 + Missense_Mutation SNP T T G TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr2:224743435T>G c.1186A>C c.(1186-1188)Aca>Cca p.T396P COADREAD 2 224744949 224744949 + Splice_Site SNP A A G TCGA-DM-A1D4-01A-21D-A152-10 TCGA-DM-A1D4-10A-01D-A152-10 g.chr2:224744949A>G c.1065T>C c.(1063-1065)gaT>gaC p.D355D COADREAD 2 224758989 224758989 + Missense_Mutation SNP C C T TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr2:224758989C>T c.793G>A c.(793-795)Gga>Aga p.G265R COADREAD 2 224760297 224760297 + Missense_Mutation SNP C C T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr2:224760297C>T c.649G>A c.(649-651)Gga>Aga p.G217R COADREAD 2 224760309 224760309 + Silent SNP A A G TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr2:224760309A>G c.637T>C c.(637-639)Tta>Cta p.L213L COADREAD 2 224760340 224760340 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:224760340G>A c.606C>T c.(604-606)gtC>gtT p.V202V COADREAD 2 224766029 224766029 + Missense_Mutation SNP G G A TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr2:224766029G>A c.356C>T c.(355-357)gCg>gTg p.A119V COADREAD 2 224809984 224809984 + Silent SNP G G A TCGA-CM-4752-01A-01D-1408-10 TCGA-CM-4752-10A-01D-1408-10 g.chr2:224809984G>A c.18C>T c.(16-18)caC>caT p.H6H ESCA 2 224746742 224746742 + Missense_Mutation SNP G G C TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 g.chr2:224746742G>C c.981C>G c.(979-981)agC>agG p.S327R ESCA 2 224759012 224759012 + Missense_Mutation SNP A A G TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 g.chr2:224759012A>G c.770T>C c.(769-771)cTc>cCc p.L257P ESCA 2 224760340 224760340 + Silent SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 g.chr2:224760340G>A c.606C>T c.(604-606)gtC>gtT p.V202V ESCA 2 224770667 224770667 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr2:224770667G>T c.331C>A c.(331-333)Cca>Aca p.P111T GBMLGG 2 224743434 224743434 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:224743434G>A c.1187C>T c.(1186-1188)aCa>aTa p.T396I GBMLGG 2 224759041 224759041 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:224759041C>T c.741G>A c.(739-741)tcG>tcA p.S247S GBMLGG 2 224763764 224763764 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:224763764G>A c.509C>T c.(508-510)gCt>gTt p.A170V HNSC 2 224743419 224743419 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 g.chr2:224743419C>T c.1202G>A c.(1201-1203)tGc>tAc p.C401Y HNSC 2 224749380 224749380 + Silent SNP C C G TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 g.chr2:224749380C>G c.918G>C c.(916-918)acG>acC p.T306T HNSC 2 224760271 224760271 + Missense_Mutation SNP C C A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr2:224760271C>A c.675G>T c.(673-675)atG>atT p.M225I HNSC 2 224765920 224765920 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 g.chr2:224765920C>T c.465G>A c.(463-465)acG>acA p.T155T HNSC 2 224777016 224777016 + Missense_Mutation SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 g.chr2:224777016T>C c.233A>G c.(232-234)cAt>cGt p.H78R HNSC 2 224809872 224809872 + Missense_Mutation SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 g.chr2:224809872C>T c.130G>A c.(130-132)Gag>Aag p.E44K HNSC 2 224809972 224809972 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 g.chr2:224809972C>G c.30G>C c.(28-30)caG>caC p.Q10H LGG 2 224743434 224743434 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:224743434G>A c.1187C>T c.(1186-1188)aCa>aTa p.T396I LGG 2 224759041 224759041 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:224759041C>T c.741G>A c.(739-741)tcG>tcA p.S247S LGG 2 224763764 224763764 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:224763764G>A c.509C>T c.(508-510)gCt>gTt p.A170V LIHC 2 224746759 224746759 + Missense_Mutation SNP A A G TCGA-BC-A10W-01A-11D-A12Z-10 TCGA-BC-A10W-11A-11D-A12Z-10 g.chr2:224746759A>G c.964T>C c.(964-966)Tgc>Cgc p.C322R LIHC 2 224760297 224760297 + Nonsense_Mutation SNP C C A TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr2:224760297C>A c.649G>T c.(649-651)Gga>Tga p.G217* LUAD 2 224743393 224743393 + Missense_Mutation SNP G G A TCGA-55-7995-01A-11D-2184-08 TCGA-55-7995-10A-01D-2184-08 g.chr2:224743393G>A c.1228C>T c.(1228-1230)Cac>Tac p.H410Y LUAD 2 224746769 224746769 + Frame_Shift_Del DEL C C - TCGA-86-8585-01A-11D-2393-08 TCGA-86-8585-10A-01D-2393-08 g.chr2:224746769delC c.954delG c.(952-954)gggfs p.G318fs LUAD 2 224749422 224749422 + Missense_Mutation SNP C C A TCGA-55-8511-01A-11D-2393-08 TCGA-55-8511-10A-01D-2393-08 g.chr2:224749422C>A c.876G>T c.(874-876)caG>caT p.Q292H LUAD 2 224760257 224760257 + Missense_Mutation SNP C C T TCGA-91-8499-01A-11D-2393-08 TCGA-91-8499-10A-01D-2393-08 g.chr2:224760257C>T c.689G>A c.(688-690)gGa>gAa p.G230E LUAD 2 224760284 224760284 + Missense_Mutation SNP T T C TCGA-MN-A4N5-01A-11D-A24P-08 TCGA-MN-A4N5-10A-01D-A24P-08 g.chr2:224760284T>C c.662A>G c.(661-663)aAc>aGc p.N221S LUAD 2 224763777 224763777 + Missense_Mutation SNP C C A TCGA-75-5126-01A-01D-1753-08 TCGA-75-5126-10A-01D-1753-08 g.chr2:224763777C>A c.496G>T c.(496-498)Gac>Tac p.D166Y LUAD 2 224765921 224765921 + Missense_Mutation SNP G G A TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr2:224765921G>A c.464C>T c.(463-465)aCg>aTg p.T155M LUAD 2 224776980 224776980 + Missense_Mutation SNP C C A TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr2:224776980C>A c.269G>T c.(268-270)gGa>gTa p.G90V LUSC 2 224759044 224759044 + Missense_Mutation SNP C C G TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 g.chr2:224759044C>G c.738G>C c.(736-738)caG>caC p.Q246H LUSC 2 224809975 224809975 + Silent SNP C C T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 g.chr2:224809975C>T c.27G>A c.(25-27)ccG>ccA p.P9P PAAD 2 224758990 224758990 + Silent SNP G G A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 g.chr2:224758990G>A c.792C>T c.(790-792)ggC>ggT p.G264G PRAD 2 224746674 224746674 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr2:224746674G>A c.1049C>T c.(1048-1050)tCc>tTc p.S350F PRAD 2 224749392 224749392 + Missense_Mutation SNP C C A TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 g.chr2:224749392C>A c.906G>T c.(904-906)tgG>tgT p.W302C READ 2 224760340 224760340 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:224760340G>A c.606C>T c.(604-606)gtC>gtT p.V202V SKCM 2 224749382 224749382 + Missense_Mutation SNP T T C TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr2:224749382T>C c.916A>G c.(916-918)Acg>Gcg p.T306A SKCM 2 224759028 224759028 + Missense_Mutation SNP G G T TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr2:224759028G>T c.754C>A c.(754-756)Cag>Aag p.Q252K

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 2 224718313 224718313 single base substitution G C downstream_gene_variant BRCA-EU 2 224718435 224718435 single base substitution G T downstream_gene_variant BRCA-EU 2 224720337 224720337 insertion of <=200bp - A downstream_gene_variant BRCA-EU 2 224722419 224722419 single base substitution A G intron_variant BRCA-EU 2 224722564 224722564 single base substitution T C intron_variant BRCA-EU 2 224723059 224723059 single base substitution C T intron_variant BRCA-EU 2 224724222 224724222 single base substitution A G intron_variant BRCA-EU 2 224725637 224725637 single base substitution C T intron_variant BRCA-EU 2 224728369 224728369 single base substitution A T intron_variant BRCA-EU 2 224728450 224728450 single base substitution G A intron_variant BRCA-EU 2 224730818 224730818 single base substitution C T intron_variant BRCA-EU 2 224731178 224731178 single base substitution T C intron_variant BRCA-EU 2 224731215 224731215 single base substitution C G intron_variant BRCA-EU 2 224731490 224731490 single base substitution C G intron_variant BRCA-EU 2 224731715 224731715 single base substitution T G intron_variant BRCA-EU 2 224733357 224733357 single base substitution G A intron_variant BRCA-EU 2 224736579 224736579 single base substitution G A downstream_gene_variant BRCA-EU 2 224736579 224736579 single base substitution G A intron_variant BRCA-EU 2 224737004 224737004 single base substitution C T downstream_gene_variant BRCA-EU 2 224737004 224737004 single base substitution C T intron_variant BRCA-EU 2 224738934 224738934 single base substitution C G downstream_gene_variant BRCA-EU 2 224738934 224738934 single base substitution C G intron_variant BRCA-EU 2 224740395 224740395 single base substitution T C 3_prime_UTR_variant BRCA-EU 2 224740395 224740395 single base substitution T C intron_variant BRCA-EU 2 224741298 224741298 single base substitution G C 3_prime_UTR_variant BRCA-EU 2 224741298 224741298 single base substitution G C intron_variant BRCA-EU 2 224741729 224741729 single base substitution A T 3_prime_UTR_variant BRCA-EU 2 224741729 224741729 single base substitution A T intron_variant BRCA-EU 2 224743739 224743739 insertion of <=200bp - A intron_variant BRCA-EU 2 224743739 224743739 insertion of <=200bp - A upstream_gene_variant BRCA-EU 2 224744855 224744855 single base substitution C T downstream_gene_variant BRCA-EU 2 224744855 224744855 single base substitution C T missense_variant D387N 1159G>A BRCA-EU 2 224744855 224744855 single base substitution C T upstream_gene_variant BRCA-EU 2 224745539 224745539 single base substitution C T downstream_gene_variant BRCA-EU 2 224745539 224745539 single base substitution C T intron_variant BRCA-EU 2 224745539 224745539 single base substitution C T upstream_gene_variant BRCA-EU 2 224748926 224748926 single base substitution T A downstream_gene_variant BRCA-EU 2 224748926 224748926 single base substitution T A intron_variant BRCA-EU 2 224749846 224749846 single base substitution C G intron_variant BRCA-EU 2 224749868 224749868 single base substitution C G intron_variant BRCA-EU 2 224749950 224749950 single base substitution C T intron_variant BRCA-EU 2 224751095 224751095 single base substitution T C intron_variant BRCA-EU 2 224751208 224751208 single base substitution A G intron_variant BRCA-EU 2 224753014 224753014 single base substitution G A intron_variant BRCA-EU 2 224753388 224753388 single base substitution C G intron_variant BRCA-EU 2 224755673 224755673 single base substitution A C downstream_gene_variant BRCA-EU 2 224755673 224755673 single base substitution A C intron_variant BRCA-EU 2 224755976 224755976 single base substitution T A downstream_gene_variant BRCA-EU 2 224755976 224755976 single base substitution T A intron_variant BRCA-EU 2 224756206 224756206 deletion of <=200bp A - downstream_gene_variant BRCA-EU 2 224756206 224756206 deletion of <=200bp A - intron_variant BRCA-EU 2 224758671 224758671 single base substitution C G downstream_gene_variant BRCA-EU 2 224758671 224758671 single base substitution C G intron_variant BRCA-EU 2 224762833 224762833 single base substitution A T downstream_gene_variant BRCA-EU 2 224762833 224762833 single base substitution A T intron_variant BRCA-EU 2 224762833 224762833 single base substitution A T upstream_gene_variant BRCA-EU 2 224762911 224762911 single base substitution C G downstream_gene_variant BRCA-EU 2 224762911 224762911 single base substitution C G intron_variant BRCA-EU 2 224762911 224762911 single base substitution C G upstream_gene_variant BRCA-EU 2 224763418 224763418 single base substitution G C downstream_gene_variant BRCA-EU 2 224763418 224763418 single base substitution G C intron_variant BRCA-EU 2 224763418 224763418 single base substitution G C upstream_gene_variant BRCA-EU 2 224764345 224764345 single base substitution C T downstream_gene_variant BRCA-EU 2 224764345 224764345 single base substitution C T intron_variant BRCA-EU 2 224764345 224764345 single base substitution C T upstream_gene_variant BRCA-EU 2 224765676 224765676 single base substitution G A exon_variant BRCA-EU 2 224765676 224765676 single base substitution G A intron_variant BRCA-EU 2 224765676 224765676 single base substitution G A upstream_gene_variant BRCA-EU 2 224766062 224766062 single base substitution G C intron_variant BRCA-EU 2 224766062 224766062 single base substitution G C upstream_gene_variant BRCA-EU 2 224766606 224766632 deletion of <=200bp AAAGCTTTTGTAAAGTTCTCTGTTCCA - intron_variant BRCA-EU 2 224766606 224766632 deletion of <=200bp AAAGCTTTTGTAAAGTTCTCTGTTCCA - upstream_gene_variant BRCA-EU 2 224771941 224771941 single base substitution C A intron_variant BRCA-EU 2 224772067 224772067 deletion of <=200bp A - intron_variant BRCA-EU 2 224774215 224774215 single base substitution A G intron_variant BRCA-EU 2 224776733 224776733 insertion of <=200bp - T intron_variant BRCA-EU 2 224779738 224779738 single base substitution G A intron_variant BRCA-EU 2 224780290 224780290 single base substitution G T intron_variant BRCA-EU 2 224780867 224780867 single base substitution G A intron_variant BRCA-EU 2 224784441 224784441 single base substitution G C intron_variant BRCA-EU 2 224785887 224785887 single base substitution C T intron_variant BRCA-EU 2 224786272 224786272 single base substitution C G intron_variant BRCA-EU 2 224787864 224787864 single base substitution G A intron_variant BRCA-EU 2 224788540 224788540 deletion of <=200bp T - intron_variant BRCA-EU 2 224789190 224789190 single base substitution C T intron_variant BRCA-EU 2 224790758 224790758 single base substitution C T intron_variant BRCA-EU 2 224793858 224793858 single base substitution C G intron_variant BRCA-EU 2 224794102 224794102 single base substitution A T intron_variant BRCA-EU 2 224795526 224795526 single base substitution C T intron_variant BRCA-EU 2 224798968 224798968 single base substitution G A intron_variant BRCA-EU 2 224799062 224799062 insertion of <=200bp - C intron_variant BRCA-EU 2 224799192 224799192 single base substitution A T intron_variant BRCA-EU 2 224799350 224799350 single base substitution G T intron_variant BRCA-EU 2 224800194 224800194 single base substitution G C intron_variant BRCA-EU 2 224800900 224800900 single base substitution C T intron_variant BRCA-EU 2 224800918 224800918 single base substitution A G intron_variant BRCA-EU 2 224805205 224805205 single base substitution T C intron_variant BRCA-EU 2 224806504 224806504 single base substitution T G intron_variant BRCA-EU 2 224808417 224808417 single base substitution T C intron_variant BRCA-EU 2 224808913 224808913 single base substitution G A intron_variant BRCA-EU 2 224810524 224810524 single base substitution G A upstream_gene_variant BRCA-EU 2 224810941 224810941 single base substitution C T upstream_gene_variant BRCA-EU 2 224811492 224811492 single base substitution C T upstream_gene_variant BRCA-EU 2 224811568 224811568 single base substitution C G upstream_gene_variant BRCA-EU 2 224811766 224811766 single base substitution C G upstream_gene_variant BRCA-EU 2 224812042 224812042 single base substitution G C upstream_gene_variant BRCA-EU 2 224812122 224812122 single base substitution A G upstream_gene_variant BRCA-EU 2 224813375 224813375 single base substitution T A upstream_gene_variant BRCA-EU 2 224813455 224813455 single base substitution G C upstream_gene_variant BRCA-EU 2 224814763 224814763 single base substitution C T upstream_gene_variant BRCA-EU 2 224814869 224814869 single base substitution C A upstream_gene_variant BRCA-EU 2 224815056 224815056 single base substitution C G upstream_gene_variant BRCA-FR 2 224723059 224723059 single base substitution C T intron_variant BRCA-FR 2 224725637 224725637 single base substitution C T intron_variant BRCA-FR 2 224728450 224728450 single base substitution G A intron_variant BRCA-FR 2 224745539 224745539 single base substitution C T downstream_gene_variant BRCA-FR 2 224745539 224745539 single base substitution C T intron_variant BRCA-FR 2 224745539 224745539 single base substitution C T upstream_gene_variant BRCA-FR 2 224749868 224749868 single base substitution C G intron_variant BRCA-FR 2 224750798 224750798 single base substitution C T intron_variant BRCA-FR 2 224751095 224751095 single base substitution T C intron_variant BRCA-FR 2 224753014 224753014 single base substitution G A intron_variant BRCA-FR 2 224755285 224755285 single base substitution G C downstream_gene_variant BRCA-FR 2 224755285 224755285 single base substitution G C intron_variant BRCA-FR 2 224774406 224774406 single base substitution C T intron_variant BRCA-FR 2 224799192 224799192 single base substitution A T intron_variant BRCA-FR 2 224808913 224808913 single base substitution G A intron_variant BRCA-FR 2 224810941 224810941 single base substitution C T upstream_gene_variant BRCA-FR 2 224814763 224814763 single base substitution C T upstream_gene_variant BRCA-UK 2 224748926 224748926 single base substitution T A downstream_gene_variant BRCA-UK 2 224748926 224748926 single base substitution T A intron_variant BRCA-UK 2 224771941 224771941 single base substitution C A intron_variant BRCA-UK 2 224777004 224777004 single base substitution C T exon_variant BRCA-UK 2 224777004 224777004 single base substitution C T intron_variant BRCA-UK 2 224777004 224777004 single base substitution C T missense_variant R82Q 245G>A BRCA-UK 2 224779574 224779574 single base substitution G C intron_variant BRCA-US 2 224746709 224746709 single base substitution C T downstream_gene_variant BRCA-US 2 224746709 224746709 single base substitution C T synonymous_variant E338E 1014G>A BRCA-US 2 224746709 224746709 single base substitution C T upstream_gene_variant BRCA-US 2 224746737 224746737 single base substitution C T downstream_gene_variant BRCA-US 2 224746737 224746737 single base substitution C T missense_variant R329H 986G>A BRCA-US 2 224746737 224746737 single base substitution C T upstream_gene_variant BRCA-US 2 224782704 224782704 single base substitution C T exon_variant BRCA-US 2 224782704 224782704 single base substitution C T missense_variant R54K 161G>A BTCA-JP 2 224743413 224743413 single base substitution A G missense_variant L403P 1208T>C BTCA-JP 2 224743413 224743413 single base substitution A G upstream_gene_variant BTCA-JP 2 224763643 224763643 deletion of <=200bp A - downstream_gene_variant BTCA-JP 2 224763643 224763643 deletion of <=200bp A - intron_variant BTCA-JP 2 224763643 224763643 deletion of <=200bp A - upstream_gene_variant BTCA-JP 2 224763760 224763760 single base substitution G A downstream_gene_variant BTCA-JP 2 224763760 224763760 single base substitution G A exon_variant BTCA-JP 2 224763760 224763760 single base substitution G A synonymous_variant F128F 384C>T BTCA-JP 2 224763760 224763760 single base substitution G A synonymous_variant F171F 513C>T BTCA-JP 2 224763760 224763760 single base substitution G A upstream_gene_variant BTCA-JP 2 224765950 224765950 single base substitution G A exon_variant BTCA-JP 2 224765950 224765950 single base substitution G A synonymous_variant S102S 306C>T BTCA-JP 2 224765950 224765950 single base substitution G A synonymous_variant S145S 435C>T BTCA-JP 2 224765950 224765950 single base substitution G A upstream_gene_variant BTCA-JP 2 224782602 224782602 single base substitution T G intron_variant BTCA-JP 2 224782720 224782720 single base substitution G A exon_variant BTCA-JP 2 224782720 224782720 single base substitution G A missense_variant R49W 145C>T CESC-US 2 224746785 224746785 single base substitution T G downstream_gene_variant CESC-US 2 224746785 224746785 single base substitution T G missense_variant H313P 938A>C CESC-US 2 224746785 224746785 single base substitution T G upstream_gene_variant CLLE-ES 2 224717778 224717778 single base substitution C T downstream_gene_variant CLLE-ES 2 224735155 224735155 single base substitution C T downstream_gene_variant CLLE-ES 2 224735155 224735155 single base substitution C T intron_variant CLLE-ES 2 224787072 224787072 single base substitution A C intron_variant COAD-US 2 224743433 224743433 single base substitution T C synonymous_variant T396T 1188A>G COAD-US 2 224743433 224743433 single base substitution T C upstream_gene_variant COAD-US 2 224743435 224743435 single base substitution T G missense_variant T396P 1186A>C COAD-US 2 224743435 224743435 single base substitution T G upstream_gene_variant COAD-US 2 224744949 224744949 single base substitution A G downstream_gene_variant COAD-US 2 224744949 224744949 single base substitution A G splice_region_variant COAD-US 2 224744949 224744949 single base substitution A G upstream_gene_variant COAD-US 2 224758989 224758989 single base substitution C T downstream_gene_variant COAD-US 2 224758989 224758989 single base substitution C T exon_variant COAD-US 2 224758989 224758989 single base substitution C T missense_variant G265R 793G>A COAD-US 2 224760309 224760309 single base substitution A G exon_variant COAD-US 2 224760309 224760309 single base substitution A G synonymous_variant L170L 508T>C COAD-US 2 224760309 224760309 single base substitution A G synonymous_variant L213L 637T>C COAD-US 2 224760309 224760309 single base substitution A G upstream_gene_variant COAD-US 2 224809984 224809984 single base substitution G A exon_variant COAD-US 2 224809984 224809984 single base substitution G A synonymous_variant H6H 18C>T COCA-CN 2 224744701 224744701 single base substitution A G downstream_gene_variant COCA-CN 2 224744701 224744701 single base substitution A G intron_variant COCA-CN 2 224744701 224744701 single base substitution A G upstream_gene_variant COCA-CN 2 224749579 224749579 single base substitution T C intron_variant COCA-CN 2 224749581 224749581 single base substitution T C intron_variant COCA-CN 2 224749582 224749582 single base substitution T C intron_variant COCA-CN 2 224765983 224765983 single base substitution G A exon_variant COCA-CN 2 224765983 224765983 single base substitution G A synonymous_variant H134H 402C>T COCA-CN 2 224765983 224765983 single base substitution G A synonymous_variant H91H 273C>T COCA-CN 2 224765983 224765983 single base substitution G A upstream_gene_variant COCA-CN 2 224770611 224770611 single base substitution T G intron_variant COCA-CN 2 224770683 224770683 single base substitution G T exon_variant COCA-CN 2 224770683 224770683 single base substitution G T intron_variant COCA-CN 2 224770683 224770683 single base substitution G T missense_variant N105K 315C>A COCA-CN 2 224777098 224777098 single base substitution C A intron_variant COCA-CN 2 224785532 224785532 single base substitution A T intron_variant COCA-CN 2 224810032 224810032 single base substitution G A 5_prime_UTR_variant COCA-CN 2 224810032 224810032 single base substitution G A exon_variant EOPC-DE 2 224727199 224727199 single base substitution A G intron_variant EOPC-DE 2 224812142 224812142 single base substitution T G upstream_gene_variant ESAD-UK 2 224717294 224717294 single base substitution T C downstream_gene_variant ESAD-UK 2 224718593 224718593 single base substitution T G downstream_gene_variant ESAD-UK 2 224718616 224718616 single base substitution C A downstream_gene_variant ESAD-UK 2 224721973 224721973 insertion of <=200bp - TTTTG intron_variant ESAD-UK 2 224722922 224722922 single base substitution G A intron_variant ESAD-UK 2 224725870 224725870 single base substitution T G intron_variant ESAD-UK 2 224728056 224728056 single base substitution C T intron_variant ESAD-UK 2 224728612 224728612 single base substitution G A intron_variant ESAD-UK 2 224731248 224731248 insertion of <=200bp - TTTTCTT intron_variant ESAD-UK 2 224733061 224733061 single base substitution T C intron_variant ESAD-UK 2 224734189 224734189 single base substitution T G intron_variant ESAD-UK 2 224734370 224734370 single base substitution C T intron_variant ESAD-UK 2 224734423 224734423 deletion of <=200bp T - intron_variant ESAD-UK 2 224737125 224737125 single base substitution T C downstream_gene_variant ESAD-UK 2 224737125 224737125 single base substitution T C intron_variant ESAD-UK 2 224743371 224743371 single base substitution G A 3_prime_UTR_variant ESAD-UK 2 224743371 224743371 single base substitution G A exon_variant ESAD-UK 2 224744395 224744395 single base substitution A G downstream_gene_variant ESAD-UK 2 224744395 224744395 single base substitution A G intron_variant ESAD-UK 2 224744395 224744395 single base substitution A G upstream_gene_variant ESAD-UK 2 224746245 224746245 single base substitution G A downstream_gene_variant ESAD-UK 2 224746245 224746245 single base substitution G A intron_variant ESAD-UK 2 224746245 224746245 single base substitution G A upstream_gene_variant ESAD-UK 2 224746738 224746738 single base substitution G A downstream_gene_variant ESAD-UK 2 224746738 224746738 single base substitution G A missense_variant R329C 985C>T ESAD-UK 2 224746738 224746738 single base substitution G A upstream_gene_variant ESAD-UK 2 224747789 224747789 single base substitution A C downstream_gene_variant ESAD-UK 2 224747789 224747789 single base substitution A C intron_variant ESAD-UK 2 224747789 224747789 single base substitution A C upstream_gene_variant ESAD-UK 2 224749910 224749910 single base substitution G T intron_variant ESAD-UK 2 224752635 224752635 single base substitution G A intron_variant ESAD-UK 2 224752967 224752967 single base substitution T A intron_variant ESAD-UK 2 224753516 224753516 single base substitution G T intron_variant ESAD-UK 2 224756187 224756187 single base substitution T A downstream_gene_variant ESAD-UK 2 224756187 224756187 single base substitution T A intron_variant ESAD-UK 2 224758343 224758343 single base substitution A C downstream_gene_variant ESAD-UK 2 224758343 224758343 single base substitution A C intron_variant ESAD-UK 2 224759950 224759950 single base substitution G C intron_variant ESAD-UK 2 224759950 224759950 single base substitution G C upstream_gene_variant ESAD-UK 2 224760360 224760361 deletion of <=200bp GA - intron_variant ESAD-UK 2 224760360 224760361 deletion of <=200bp GA - upstream_gene_variant ESAD-UK 2 224761747 224761747 single base substitution T G downstream_gene_variant ESAD-UK 2 224761747 224761747 single base substitution T G intron_variant ESAD-UK 2 224761747 224761747 single base substitution T G upstream_gene_variant ESAD-UK 2 224761977 224761977 single base substitution C T downstream_gene_variant ESAD-UK 2 224761977 224761977 single base substitution C T intron_variant ESAD-UK 2 224761977 224761977 single base substitution C T upstream_gene_variant ESAD-UK 2 224762600 224762600 single base substitution C A downstream_gene_variant ESAD-UK 2 224762600 224762600 single base substitution C A intron_variant ESAD-UK 2 224762600 224762600 single base substitution C A upstream_gene_variant ESAD-UK 2 224763489 224763489 single base substitution G A downstream_gene_variant ESAD-UK 2 224763489 224763489 single base substitution G A intron_variant ESAD-UK 2 224763489 224763489 single base substitution G A upstream_gene_variant ESAD-UK 2 224764385 224764385 single base substitution C T downstream_gene_variant ESAD-UK 2 224764385 224764385 single base substitution C T intron_variant ESAD-UK 2 224764385 224764385 single base substitution C T upstream_gene_variant ESAD-UK 2 224764975 224764975 single base substitution C T downstream_gene_variant ESAD-UK 2 224764975 224764975 single base substitution C T intron_variant ESAD-UK 2 224764975 224764975 single base substitution C T upstream_gene_variant ESAD-UK 2 224766591 224766591 single base substitution A C intron_variant ESAD-UK 2 224766591 224766591 single base substitution A C upstream_gene_variant ESAD-UK 2 224767269 224767269 single base substitution G A intron_variant ESAD-UK 2 224767269 224767269 single base substitution G A upstream_gene_variant ESAD-UK 2 224767363 224767363 single base substitution G A intron_variant ESAD-UK 2 224767363 224767363 single base substitution G A upstream_gene_variant ESAD-UK 2 224770565 224770565 single base substitution A C intron_variant ESAD-UK 2 224780257 224780257 single base substitution C T intron_variant ESAD-UK 2 224782447 224782447 single base substitution G A intron_variant ESAD-UK 2 224783393 224783393 single base substitution G T intron_variant ESAD-UK 2 224785666 224785666 single base substitution T G intron_variant ESAD-UK 2 224787393 224787393 single base substitution G T intron_variant ESAD-UK 2 224788482 224788482 single base substitution A T intron_variant ESAD-UK 2 224788746 224788746 single base substitution G A intron_variant ESAD-UK 2 224797966 224797966 single base substitution T A intron_variant ESAD-UK 2 224798182 224798182 single base substitution G T intron_variant ESAD-UK 2 224801784 224801784 single base substitution G A intron_variant ESAD-UK 2 224802068 224802068 single base substitution G T intron_variant ESAD-UK 2 224802361 224802361 single base substitution G A intron_variant ESAD-UK 2 224802820 224802820 single base substitution C T intron_variant ESAD-UK 2 224804008 224804008 single base substitution T A intron_variant ESAD-UK 2 224805225 224805225 single base substitution G A intron_variant ESAD-UK 2 224805918 224805918 single base substitution C A intron_variant ESAD-UK 2 224810088 224810088 single base substitution G C 5_prime_UTR_variant ESAD-UK 2 224810088 224810088 single base substitution G C upstream_gene_variant ESAD-UK 2 224810575 224810575 single base substitution A C upstream_gene_variant ESAD-UK 2 224811757 224811757 single base substitution T G upstream_gene_variant ESAD-UK 2 224813087 224813087 single base substitution G A upstream_gene_variant ESAD-UK 2 224813612 224813612 single base substitution C T upstream_gene_variant ESAD-UK 2 224813809 224813809 single base substitution T C upstream_gene_variant LAML-KR 2 224727396 224727396 single base substitution G A intron_variant LAML-KR 2 224749579 224749579 single base substitution T C intron_variant LAML-KR 2 224749582 224749582 single base substitution T C intron_variant LAML-KR 2 224765894 224765894 single base substitution G A exon_variant LAML-KR 2 224765894 224765894 single base substitution G A splice_region_variant LAML-KR 2 224765894 224765894 single base substitution G A upstream_gene_variant LAML-KR 2 224765956 224765956 single base substitution C T exon_variant LAML-KR 2 224765956 224765956 single base substitution C T synonymous_variant T100T 300G>A LAML-KR 2 224765956 224765956 single base substitution C T synonymous_variant T143T 429G>A LAML-KR 2 224765956 224765956 single base substitution C T upstream_gene_variant LICA-CN 2 224746755 224746755 single base substitution C G downstream_gene_variant LICA-CN 2 224746755 224746755 single base substitution C G missense_variant G323A 968G>C LICA-CN 2 224746755 224746755 single base substitution C G upstream_gene_variant LICA-FR 2 224728177 224728177 single base substitution G A intron_variant LICA-FR 2 224748763 224748763 insertion of <=200bp - T downstream_gene_variant LICA-FR 2 224748763 224748763 insertion of <=200bp - T intron_variant LICA-FR 2 224756824 224756824 single base substitution T A downstream_gene_variant LICA-FR 2 224756824 224756824 single base substitution T A intron_variant LICA-FR 2 224766914 224766914 single base substitution T C intron_variant LICA-FR 2 224766914 224766914 single base substitution T C upstream_gene_variant LICA-FR 2 224770406 224770406 single base substitution A C intron_variant LICA-FR 2 224770414 224770414 single base substitution A C intron_variant LICA-FR 2 224773187 224773201 deletion of <=200bp CCCTGAAACTCACTG - intron_variant LICA-FR 2 224782715 224782715 single base substitution T C exon_variant LICA-FR 2 224782715 224782715 single base substitution T C synonymous_variant V50V 150A>G LICA-FR 2 224791391 224791391 single base substitution A G intron_variant LICA-FR 2 224792056 224792056 single base substitution C T intron_variant LICA-FR 2 224798064 224798066 deletion of <=200bp TTT - intron_variant LIHC-US 2 224746759 224746759 single base substitution A G downstream_gene_variant LIHC-US 2 224746759 224746759 single base substitution A G missense_variant C322R 964T>C LIHC-US 2 224746759 224746759 single base substitution A G upstream_gene_variant LINC-JP 2 224728277 224728277 single base substitution A G intron_variant LINC-JP 2 224728278 224728278 single base substitution G T intron_variant LINC-JP 2 224740113 224740113 single base substitution C A 3_prime_UTR_variant LINC-JP 2 224740113 224740113 single base substitution C A intron_variant LINC-JP 2 224746579 224746579 single base substitution T G downstream_gene_variant LINC-JP 2 224746579 224746579 single base substitution T G intron_variant LINC-JP 2 224746579 224746579 single base substitution T G upstream_gene_variant LINC-JP 2 224746776 224746776 single base substitution T A downstream_gene_variant LINC-JP 2 224746776 224746776 single base substitution T A missense_variant K316I 947A>T LINC-JP 2 224746776 224746776 single base substitution T A upstream_gene_variant LINC-JP 2 224749103 224749103 single base substitution C A downstream_gene_variant LINC-JP 2 224749103 224749103 single base substitution C A intron_variant LINC-JP 2 224749593 224749593 single base substitution G T intron_variant LINC-JP 2 224749594 224749594 single base substitution G T intron_variant LINC-JP 2 224752250 224752250 single base substitution A C intron_variant LINC-JP 2 224752738 224752738 single base substitution T C intron_variant LINC-JP 2 224779946 224779946 single base substitution T C intron_variant LINC-JP 2 224788047 224788047 single base substitution T C intron_variant LINC-JP 2 224797080 224797080 single base substitution T C intron_variant LINC-JP 2 224798914 224798914 single base substitution T C intron_variant LINC-JP 2 224805289 224805289 single base substitution T A intron_variant LIRI-JP 2 224721575 224721575 single base substitution A G intron_variant LIRI-JP 2 224726173 224726173 single base substitution T C intron_variant LIRI-JP 2 224727607 224727607 single base substitution C G intron_variant LIRI-JP 2 224731927 224731927 single base substitution C A intron_variant LIRI-JP 2 224732684 224732684 single base substitution G A intron_variant LIRI-JP 2 224740969 224740969 single base substitution G A 3_prime_UTR_variant LIRI-JP 2 224740969 224740969 single base substitution G A intron_variant LIRI-JP 2 224741259 224741259 single base substitution C T 3_prime_UTR_variant LIRI-JP 2 224741259 224741259 single base substitution C T intron_variant LIRI-JP 2 224743666 224743666 single base substitution C T intron_variant LIRI-JP 2 224743666 224743666 single base substitution C T upstream_gene_variant LIRI-JP 2 224744874 224744874 single base substitution C T downstream_gene_variant LIRI-JP 2 224744874 224744874 single base substitution C T synonymous_variant L380L 1140G>A LIRI-JP 2 224744874 224744874 single base substitution C T upstream_gene_variant LIRI-JP 2 224745731 224745731 single base substitution T C downstream_gene_variant LIRI-JP 2 224745731 224745731 single base substitution T C intron_variant LIRI-JP 2 224745731 224745731 single base substitution T C upstream_gene_variant LIRI-JP 2 224746227 224746227 single base substitution C T downstream_gene_variant LIRI-JP 2 224746227 224746227 single base substitution C T intron_variant LIRI-JP 2 224746227 224746227 single base substitution C T upstream_gene_variant LIRI-JP 2 224746540 224746540 single base substitution T C downstream_gene_variant LIRI-JP 2 224746540 224746540 single base substitution T C intron_variant LIRI-JP 2 224746540 224746540 single base substitution T C upstream_gene_variant LIRI-JP 2 224747258 224747258 single base substitution A C downstream_gene_variant LIRI-JP 2 224747258 224747258 single base substitution A C intron_variant LIRI-JP 2 224747258 224747258 single base substitution A C upstream_gene_variant LIRI-JP 2 224749974 224749974 single base substitution C A intron_variant LIRI-JP 2 224750033 224750033 single base substitution G A intron_variant LIRI-JP 2 224750890 224750890 single base substitution T C intron_variant LIRI-JP 2 224751361 224751361 single base substitution C G intron_variant LIRI-JP 2 224752954 224752954 single base substitution A G intron_variant LIRI-JP 2 224754595 224754595 single base substitution T G downstream_gene_variant LIRI-JP 2 224754595 224754595 single base substitution T G intron_variant LIRI-JP 2 224754873 224754873 single base substitution T C downstream_gene_variant LIRI-JP 2 224754873 224754873 single base substitution T C intron_variant LIRI-JP 2 224755038 224755038 single base substitution T C downstream_gene_variant LIRI-JP 2 224755038 224755038 single base substitution T C intron_variant LIRI-JP 2 224755676 224755676 single base substitution C A downstream_gene_variant LIRI-JP 2 224755676 224755676 single base substitution C A intron_variant LIRI-JP 2 224755687 224755687 single base substitution G A downstream_gene_variant LIRI-JP 2 224755687 224755687 single base substitution G A intron_variant LIRI-JP 2 224757990 224757990 single base substitution T C downstream_gene_variant LIRI-JP 2 224757990 224757990 single base substitution T C intron_variant LIRI-JP 2 224759542 224759542 single base substitution C A intron_variant LIRI-JP 2 224759542 224759542 single base substitution C A upstream_gene_variant LIRI-JP 2 224760666 224760666 single base substitution G T downstream_gene_variant LIRI-JP 2 224760666 224760666 single base substitution G T intron_variant LIRI-JP 2 224760666 224760666 single base substitution G T upstream_gene_variant LIRI-JP 2 224761742 224761742 deletion of <=200bp A - downstream_gene_variant LIRI-JP 2 224761742 224761742 deletion of <=200bp A - intron_variant LIRI-JP 2 224761742 224761742 deletion of <=200bp A - upstream_gene_variant LIRI-JP 2 224762742 224762742 single base substitution T C downstream_gene_variant LIRI-JP 2 224762742 224762742 single base substitution T C intron_variant LIRI-JP 2 224762742 224762742 single base substitution T C upstream_gene_variant LIRI-JP 2 224763288 224763288 single base substitution A G downstream_gene_variant LIRI-JP 2 224763288 224763288 single base substitution A G intron_variant LIRI-JP 2 224763288 224763288 single base substitution A G upstream_gene_variant LIRI-JP 2 224765000 224765000 single base substitution G C downstream_gene_variant LIRI-JP 2 224765000 224765000 single base substitution G C intron_variant LIRI-JP 2 224765000 224765000 single base substitution G C upstream_gene_variant LIRI-JP 2 224766485 224766485 single base substitution A T intron_variant LIRI-JP 2 224766485 224766485 single base substitution A T upstream_gene_variant LIRI-JP 2 224766731 224766731 single base substitution C T intron_variant LIRI-JP 2 224766731 224766731 single base substitution C T upstream_gene_variant LIRI-JP 2 224769356 224769356 single base substitution A G intron_variant LIRI-JP 2 224770056 224770056 single base substitution G C intron_variant LIRI-JP 2 224770474 224770474 single base substitution T C intron_variant LIRI-JP 2 224770860 224770860 single base substitution A G intron_variant LIRI-JP 2 224772216 224772216 single base substitution C A intron_variant LIRI-JP 2 224772539 224772539 single base substitution T C intron_variant LIRI-JP 2 224773271 224773271 single base substitution C G intron_variant LIRI-JP 2 224773673 224773673 single base substitution C A intron_variant LIRI-JP 2 224773862 224773862 single base substitution T A intron_variant LIRI-JP 2 224774339 224774339 single base substitution C T intron_variant LIRI-JP 2 224776901 224776901 single base substitution G C intron_variant LIRI-JP 2 224777111 224777111 single base substitution A G intron_variant LIRI-JP 2 224777562 224777562 single base substitution C A intron_variant LIRI-JP 2 224777969 224777969 single base substitution T C intron_variant LIRI-JP 2 224778207 224778207 single base substitution C A intron_variant LIRI-JP 2 224781827 224781827 single base substitution G A intron_variant LIRI-JP 2 224782607 224782607 single base substitution T A intron_variant LIRI-JP 2 224782812 224782812 single base substitution G T intron_variant LIRI-JP 2 224784647 224784647 single base substitution T A intron_variant LIRI-JP 2 224784929 224784929 single base substitution A G intron_variant LIRI-JP 2 224784956 224784956 single base substitution A G intron_variant LIRI-JP 2 224787953 224787953 single base substitution C T intron_variant LIRI-JP 2 224790410 224790410 single base substitution C T intron_variant LIRI-JP 2 224792392 224792392 single base substitution T A intron_variant LIRI-JP 2 224792734 224792734 single base substitution C T intron_variant LIRI-JP 2 224793310 224793310 single base substitution C T intron_variant LIRI-JP 2 224793445 224793445 single base substitution T C intron_variant LIRI-JP 2 224793510 224793510 single base substitution C G intron_variant LIRI-JP 2 224794634 224794634 single base substitution C A intron_variant LIRI-JP 2 224797832 224797832 single base substitution G A intron_variant LIRI-JP 2 224802829 224802829 single base substitution T C intron_variant LIRI-JP 2 224803403 224803403 single base substitution G A intron_variant LIRI-JP 2 224805083 224805083 single base substitution T C intron_variant LIRI-JP 2 224806438 224806438 single base substitution C T intron_variant LIRI-JP 2 224807673 224807673 single base substitution G A intron_variant LIRI-JP 2 224809946 224809946 single base substitution T G exon_variant LIRI-JP 2 224809946 224809946 single base substitution T G missense_variant K19T 56A>C LIRI-JP 2 224809964 224809964 single base substitution C A exon_variant LIRI-JP 2 224809964 224809964 single base substitution C A missense_variant R13L 38G>T LIRI-JP 2 224814502 224814502 single base substitution T C upstream_gene_variant LUSC-KR 2 224720398 224720398 single base substitution T C downstream_gene_variant LUSC-KR 2 224731247 224731247 single base substitution C T intron_variant LUSC-KR 2 224740332 224740332 single base substitution A T 3_prime_UTR_variant LUSC-KR 2 224740332 224740332 single base substitution A T intron_variant LUSC-KR 2 224740705 224740705 single base substitution G A 3_prime_UTR_variant LUSC-KR 2 224740705 224740705 single base substitution G A intron_variant LUSC-KR 2 224741013 224741013 single base substitution C A 3_prime_UTR_variant LUSC-KR 2 224741013 224741013 single base substitution C A intron_variant LUSC-KR 2 224741803 224741803 single base substitution T A 3_prime_UTR_variant LUSC-KR 2 224741803 224741803 single base substitution T A intron_variant LUSC-KR 2 224741911 224741911 single base substitution C T 3_prime_UTR_variant LUSC-KR 2 224741911 224741911 single base substitution C T intron_variant LUSC-KR 2 224741993 224741993 single base substitution T C 3_prime_UTR_variant LUSC-KR 2 224741993 224741993 single base substitution T C intron_variant LUSC-KR 2 224742045 224742045 single base substitution T C 3_prime_UTR_variant LUSC-KR 2 224742045 224742045 single base substitution T C intron_variant LUSC-KR 2 224742738 224742738 single base substitution C T 3_prime_UTR_variant LUSC-KR 2 224742738 224742738 single base substitution C T intron_variant LUSC-KR 2 224743373 224743373 single base substitution C T 3_prime_UTR_variant LUSC-KR 2 224743373 224743373 single base substitution C T exon_variant LUSC-KR 2 224744701 224744701 single base substitution A G downstream_gene_variant LUSC-KR 2 224744701 224744701 single base substitution A G intron_variant LUSC-KR 2 224744701 224744701 single base substitution A G upstream_gene_variant LUSC-KR 2 224748648 224748648 single base substitution C T downstream_gene_variant LUSC-KR 2 224748648 224748648 single base substitution C T intron_variant LUSC-KR 2 224750129 224750129 single base substitution G A intron_variant LUSC-KR 2 224758906 224758906 single base substitution C T downstream_gene_variant LUSC-KR 2 224758906 224758906 single base substitution C T intron_variant LUSC-KR 2 224760494 224760494 single base substitution G A intron_variant LUSC-KR 2 224760494 224760494 single base substitution G A upstream_gene_variant LUSC-KR 2 224762406 224762406 single base substitution C G downstream_gene_variant LUSC-KR 2 224762406 224762406 single base substitution C G intron_variant LUSC-KR 2 224762406 224762406 single base substitution C G upstream_gene_variant LUSC-KR 2 224763816 224763816 single base substitution C T downstream_gene_variant LUSC-KR 2 224763816 224763816 single base substitution C T exon_variant LUSC-KR 2 224763816 224763816 single base substitution C T intron_variant LUSC-KR 2 224763816 224763816 single base substitution C T upstream_gene_variant LUSC-KR 2 224763948 224763948 single base substitution A C downstream_gene_variant LUSC-KR 2 224763948 224763948 single base substitution A C exon_variant LUSC-KR 2 224763948 224763948 single base substitution A C intron_variant LUSC-KR 2 224763948 224763948 single base substitution A C upstream_gene_variant LUSC-KR 2 224765112 224765112 single base substitution T G downstream_gene_variant LUSC-KR 2 224765112 224765112 single base substitution T G intron_variant LUSC-KR 2 224765112 224765112 single base substitution T G upstream_gene_variant LUSC-KR 2 224765894 224765894 single base substitution G A exon_variant LUSC-KR 2 224765894 224765894 single base substitution G A splice_region_variant LUSC-KR 2 224765894 224765894 single base substitution G A upstream_gene_variant LUSC-KR 2 224769605 224769605 single base substitution G C intron_variant LUSC-KR 2 224770780 224770780 single base substitution C T intron_variant LUSC-KR 2 224773224 224773224 single base substitution C T intron_variant LUSC-KR 2 224773978 224773978 single base substitution C A intron_variant LUSC-KR 2 224775134 224775134 single base substitution C A intron_variant LUSC-KR 2 224776263 224776263 single base substitution G A intron_variant LUSC-KR 2 224776821 224776821 single base substitution T C intron_variant LUSC-KR 2 224777094 224777094 single base substitution T C intron_variant LUSC-KR 2 224777624 224777624 single base substitution T A intron_variant LUSC-KR 2 224785019 224785019 single base substitution C A intron_variant LUSC-KR 2 224785207 224785207 single base substitution G T intron_variant LUSC-KR 2 224789333 224789333 single base substitution G A intron_variant LUSC-KR 2 224789425 224789425 single base substitution C G intron_variant LUSC-KR 2 224791099 224791099 single base substitution C A intron_variant LUSC-KR 2 224794408 224794408 single base substitution G C intron_variant LUSC-KR 2 224797490 224797490 single base substitution A C intron_variant LUSC-KR 2 224802420 224802420 single base substitution G C intron_variant LUSC-KR 2 224804429 224804429 single base substitution C A intron_variant LUSC-KR 2 224805870 224805870 single base substitution C T intron_variant LUSC-KR 2 224809373 224809373 single base substitution A G intron_variant LUSC-KR 2 224810020 224810020 single base substitution G T 5_prime_UTR_variant LUSC-KR 2 224810020 224810020 single base substitution G T exon_variant LUSC-KR 2 224810076 224810076 single base substitution C G 5_prime_UTR_variant LUSC-KR 2 224810076 224810076 single base substitution C G upstream_gene_variant LUSC-KR 2 224811963 224811963 single base substitution G A upstream_gene_variant LUSC-US 2 224759044 224759044 single base substitution C G exon_variant LUSC-US 2 224759044 224759044 single base substitution C G missense_variant Q203H 609G>C LUSC-US 2 224759044 224759044 single base substitution C G missense_variant Q246H 738G>C LUSC-US 2 224809975 224809975 single base substitution C T exon_variant LUSC-US 2 224809975 224809975 single base substitution C T synonymous_variant P9P 27G>A MALY-DE 2 224724708 224724708 single base substitution G T intron_variant MALY-DE 2 224738014 224738014 single base substitution T A downstream_gene_variant MALY-DE 2 224738014 224738014 single base substitution T A intron_variant MALY-DE 2 224743263 224743263 single base substitution A T 3_prime_UTR_variant MALY-DE 2 224743263 224743263 single base substitution A T exon_variant MALY-DE 2 224749910 224749910 single base substitution G T intron_variant MALY-DE 2 224752993 224752993 single base substitution G C intron_variant MALY-DE 2 224757296 224757296 deletion of <=200bp A - downstream_gene_variant MALY-DE 2 224757296 224757296 deletion of <=200bp A - intron_variant MALY-DE 2 224760360 224760361 deletion of <=200bp GA - intron_variant MALY-DE 2 224760360 224760361 deletion of <=200bp GA - upstream_gene_variant MALY-DE 2 224760999 224760999 single base substitution A T downstream_gene_variant MALY-DE 2 224760999 224760999 single base substitution A T intron_variant MALY-DE 2 224760999 224760999 single base substitution A T upstream_gene_variant MALY-DE 2 224761002 224761002 single base substitution G C downstream_gene_variant MALY-DE 2 224761002 224761002 single base substitution G C intron_variant MALY-DE 2 224761002 224761002 single base substitution G C upstream_gene_variant MALY-DE 2 224772067 224772067 insertion of <=200bp - A intron_variant MALY-DE 2 224776354 224776354 single base substitution C A intron_variant MALY-DE 2 224778372 224778372 single base substitution C T intron_variant MALY-DE 2 224788482 224788482 single base substitution A T intron_variant MALY-DE 2 224789631 224789631 single base substitution A C intron_variant MALY-DE 2 224791030 224791030 single base substitution A C intron_variant MALY-DE 2 224793226 224793226 single base substitution C G intron_variant MALY-DE 2 224793936 224793936 single base substitution C T intron_variant MALY-DE 2 224799975 224799975 single base substitution A G intron_variant MALY-DE 2 224800506 224800506 single base substitution G C intron_variant MALY-DE 2 224804710 224804713 deletion of <=200bp TAGC - intron_variant MALY-DE 2 224813089 224813089 single base substitution T A upstream_gene_variant MELA-AU 2 224715516 224715516 single base substitution G A downstream_gene_variant MELA-AU 2 224715616 224715616 single base substitution G A downstream_gene_variant MELA-AU 2 224715663 224715663 single base substitution G A downstream_gene_variant MELA-AU 2 224716024 224716024 single base substitution G A downstream_gene_variant MELA-AU 2 224716126 224716126 single base substitution C T downstream_gene_variant MELA-AU 2 224717601 224717601 single base substitution C T downstream_gene_variant MELA-AU 2 224718029 224718029 single base substitution G A downstream_gene_variant MELA-AU 2 224718055 224718055 single base substitution G A downstream_gene_variant MELA-AU 2 224719862 224719862 single base substitution A T downstream_gene_variant MELA-AU 2 224720572 224720572 single base substitution G A exon_variant MELA-AU 2 224720889 224720890 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 224722247 224722247 single base substitution G A intron_variant MELA-AU 2 224723789 224723789 single base substitution G A intron_variant MELA-AU 2 224724424 224724424 single base substitution C T intron_variant MELA-AU 2 224724683 224724683 single base substitution A G intron_variant MELA-AU 2 224726285 224726285 single base substitution G A intron_variant MELA-AU 2 224726400 224726400 single base substitution G A intron_variant MELA-AU 2 224726635 224726635 single base substitution G A intron_variant MELA-AU 2 224727062 224727062 single base substitution G A intron_variant MELA-AU 2 224727833 224727833 single base substitution C T intron_variant MELA-AU 2 224727971 224727971 single base substitution G A intron_variant MELA-AU 2 224728071 224728071 single base substitution G A intron_variant MELA-AU 2 224728362 224728362 single base substitution A G intron_variant MELA-AU 2 224728854 224728865 deletion of <=200bp CACAAGTATAAT - intron_variant MELA-AU 2 224730160 224730160 single base substitution G A intron_variant MELA-AU 2 224730173 224730173 single base substitution G A intron_variant MELA-AU 2 224730209 224730210 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 224730859 224730859 single base substitution G A intron_variant MELA-AU 2 224731191 224731191 single base substitution C T intron_variant MELA-AU 2 224731200 224731200 single base substitution T C intron_variant MELA-AU 2 224731201 224731201 single base substitution T C intron_variant MELA-AU 2 224731203 224731203 single base substitution C T intron_variant MELA-AU 2 224731220 224731220 single base substitution C T intron_variant MELA-AU 2 224732167 224732167 single base substitution A G intron_variant MELA-AU 2 224732228 224732228 single base substitution G A intron_variant MELA-AU 2 224733297 224733297 single base substitution G A intron_variant MELA-AU 2 224735401 224735401 single base substitution G A downstream_gene_variant MELA-AU 2 224735401 224735401 single base substitution G A intron_variant MELA-AU 2 224735419 224735419 single base substitution G A downstream_gene_variant MELA-AU 2 224735419 224735419 single base substitution G A intron_variant MELA-AU 2 224735737 224735737 single base substitution C T downstream_gene_variant MELA-AU 2 224735737 224735737 single base substitution C T intron_variant MELA-AU 2 224736704 224736704 single base substitution G A downstream_gene_variant MELA-AU 2 224736704 224736704 single base substitution G A intron_variant MELA-AU 2 224737851 224737851 single base substitution G A downstream_gene_variant MELA-AU 2 224737851 224737851 single base substitution G A intron_variant MELA-AU 2 224740838 224740838 single base substitution T C 3_prime_UTR_variant MELA-AU 2 224740838 224740838 single base substitution T C intron_variant MELA-AU 2 224741213 224741213 single base substitution G A 3_prime_UTR_variant MELA-AU 2 224741213 224741213 single base substitution G A intron_variant MELA-AU 2 224742034 224742034 single base substitution T A 3_prime_UTR_variant MELA-AU 2 224742034 224742034 single base substitution T A intron_variant MELA-AU 2 224742131 224742131 single base substitution C T 3_prime_UTR_variant MELA-AU 2 224742131 224742131 single base substitution C T intron_variant MELA-AU 2 224744114 224744114 single base substitution T A intron_variant MELA-AU 2 224744114 224744114 single base substitution T A upstream_gene_variant MELA-AU 2 224744495 224744495 single base substitution C A downstream_gene_variant MELA-AU 2 224744495 224744495 single base substitution C A intron_variant MELA-AU 2 224744495 224744495 single base substitution C A upstream_gene_variant MELA-AU 2 224744599 224744599 single base substitution G A downstream_gene_variant MELA-AU 2 224744599 224744599 single base substitution G A intron_variant MELA-AU 2 224744599 224744599 single base substitution G A upstream_gene_variant MELA-AU 2 224744600 224744600 single base substitution G A downstream_gene_variant MELA-AU 2 224744600 224744600 single base substitution G A intron_variant MELA-AU 2 224744600 224744600 single base substitution G A upstream_gene_variant MELA-AU 2 224744646 224744646 single base substitution G A downstream_gene_variant MELA-AU 2 224744646 224744646 single base substitution G A intron_variant MELA-AU 2 224744646 224744646 single base substitution G A upstream_gene_variant MELA-AU 2 224745357 224745357 single base substitution G A downstream_gene_variant MELA-AU 2 224745357 224745357 single base substitution G A intron_variant MELA-AU 2 224745357 224745357 single base substitution G A upstream_gene_variant MELA-AU 2 224745667 224745667 single base substitution C A downstream_gene_variant MELA-AU 2 224745667 224745667 single base substitution C A intron_variant MELA-AU 2 224745667 224745667 single base substitution C A upstream_gene_variant MELA-AU 2 224745782 224745782 single base substitution G A downstream_gene_variant MELA-AU 2 224745782 224745782 single base substitution G A intron_variant MELA-AU 2 224745782 224745782 single base substitution G A upstream_gene_variant MELA-AU 2 224746874 224746874 single base substitution C T downstream_gene_variant MELA-AU 2 224746874 224746874 single base substitution C T intron_variant MELA-AU 2 224746874 224746874 single base substitution C T upstream_gene_variant MELA-AU 2 224748565 224748565 single base substitution G A downstream_gene_variant MELA-AU 2 224748565 224748565 single base substitution G A intron_variant MELA-AU 2 224749382 224749382 single base substitution T C downstream_gene_variant MELA-AU 2 224749382 224749382 single base substitution T C missense_variant T306A 916A>G MELA-AU 2 224749532 224749532 single base substitution A T intron_variant MELA-AU 2 224749582 224749582 single base substitution T C intron_variant MELA-AU 2 224750182 224750182 single base substitution G A intron_variant MELA-AU 2 224750884 224750884 single base substitution C T intron_variant MELA-AU 2 224751216 224751216 single base substitution C G intron_variant MELA-AU 2 224751994 224751994 single base substitution G A intron_variant MELA-AU 2 224752447 224752447 single base substitution G A intron_variant MELA-AU 2 224753651 224753651 single base substitution C T intron_variant MELA-AU 2 224755623 224755623 single base substitution G A downstream_gene_variant MELA-AU 2 224755623 224755623 single base substitution G A intron_variant MELA-AU 2 224756049 224756049 single base substitution G A downstream_gene_variant MELA-AU 2 224756049 224756049 single base substitution G A intron_variant MELA-AU 2 224756321 224756321 single base substitution C T downstream_gene_variant MELA-AU 2 224756321 224756321 single base substitution C T intron_variant MELA-AU 2 224756408 224756408 single base substitution G A downstream_gene_variant MELA-AU 2 224756408 224756408 single base substitution G A intron_variant MELA-AU 2 224756420 224756420 single base substitution G A downstream_gene_variant MELA-AU 2 224756420 224756420 single base substitution G A intron_variant MELA-AU 2 224756571 224756571 single base substitution G C downstream_gene_variant MELA-AU 2 224756571 224756571 single base substitution G C intron_variant MELA-AU 2 224757078 224757078 single base substitution G A downstream_gene_variant MELA-AU 2 224757078 224757078 single base substitution G A intron_variant MELA-AU 2 224757296 224757296 single base substitution A T downstream_gene_variant MELA-AU 2 224757296 224757296 single base substitution A T intron_variant MELA-AU 2 224757877 224757877 single base substitution T C downstream_gene_variant MELA-AU 2 224757877 224757877 single base substitution T C intron_variant MELA-AU 2 224758832 224758832 single base substitution G A downstream_gene_variant MELA-AU 2 224758832 224758832 single base substitution G A intron_variant MELA-AU 2 224759011 224759011 single base substitution G T exon_variant MELA-AU 2 224759011 224759011 single base substitution G T synonymous_variant L214L 642C>A MELA-AU 2 224759011 224759011 single base substitution G T synonymous_variant L257L 771C>A MELA-AU 2 224759028 224759028 single base substitution G T exon_variant MELA-AU 2 224759028 224759028 single base substitution G T missense_variant Q209K 625C>A MELA-AU 2 224759028 224759028 single base substitution G T missense_variant Q252K 754C>A MELA-AU 2 224759980 224759980 single base substitution A G intron_variant MELA-AU 2 224759980 224759980 single base substitution A G upstream_gene_variant MELA-AU 2 224760370 224760370 single base substitution G A intron_variant MELA-AU 2 224760370 224760370 single base substitution G A upstream_gene_variant MELA-AU 2 224760390 224760390 single base substitution A G intron_variant MELA-AU 2 224760390 224760390 single base substitution A G upstream_gene_variant MELA-AU 2 224760768 224760768 single base substitution G T downstream_gene_variant MELA-AU 2 224760768 224760768 single base substitution G T intron_variant MELA-AU 2 224760768 224760768 single base substitution G T upstream_gene_variant MELA-AU 2 224761034 224761034 single base substitution G T downstream_gene_variant MELA-AU 2 224761034 224761034 single base substitution G T intron_variant MELA-AU 2 224761034 224761034 single base substitution G T upstream_gene_variant MELA-AU 2 224762388 224762388 single base substitution G A downstream_gene_variant MELA-AU 2 224762388 224762388 single base substitution G A intron_variant MELA-AU 2 224762388 224762388 single base substitution G A upstream_gene_variant MELA-AU 2 224763343 224763343 single base substitution G A downstream_gene_variant MELA-AU 2 224763343 224763343 single base substitution G A intron_variant MELA-AU 2 224763343 224763343 single base substitution G A upstream_gene_variant MELA-AU 2 224763650 224763650 single base substitution A C downstream_gene_variant MELA-AU 2 224763650 224763650 single base substitution A C intron_variant MELA-AU 2 224763650 224763650 single base substitution A C upstream_gene_variant MELA-AU 2 224764026 224764026 single base substitution C T downstream_gene_variant MELA-AU 2 224764026 224764026 single base substitution C T intron_variant MELA-AU 2 224764026 224764026 single base substitution C T upstream_gene_variant MELA-AU 2 224764443 224764443 single base substitution G A downstream_gene_variant MELA-AU 2 224764443 224764443 single base substitution G A intron_variant MELA-AU 2 224764443 224764443 single base substitution G A upstream_gene_variant MELA-AU 2 224764897 224764897 single base substitution C T downstream_gene_variant MELA-AU 2 224764897 224764897 single base substitution C T intron_variant MELA-AU 2 224764897 224764897 single base substitution C T upstream_gene_variant MELA-AU 2 224765303 224765304 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 224765303 224765304 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 224765303 224765304 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 224766284 224766284 single base substitution A T intron_variant MELA-AU 2 224766284 224766284 single base substitution A T upstream_gene_variant MELA-AU 2 224768236 224768236 single base substitution T C intron_variant MELA-AU 2 224768236 224768236 single base substitution T C upstream_gene_variant MELA-AU 2 224768402 224768402 single base substitution C T intron_variant MELA-AU 2 224768402 224768402 single base substitution C T upstream_gene_variant MELA-AU 2 224769817 224769817 single base substitution A C intron_variant MELA-AU 2 224769980 224769980 single base substitution A C intron_variant MELA-AU 2 224770807 224770807 single base substitution C T intron_variant MELA-AU 2 224770953 224770954 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 224772870 224772870 single base substitution G A intron_variant MELA-AU 2 224773772 224773772 single base substitution G A intron_variant MELA-AU 2 224773858 224773858 insertion of <=200bp - C intron_variant MELA-AU 2 224774030 224774030 deletion of <=200bp T - intron_variant MELA-AU 2 224774047 224774047 single base substitution G A intron_variant MELA-AU 2 224775539 224775539 single base substitution T A intron_variant MELA-AU 2 224775559 224775559 single base substitution G A intron_variant MELA-AU 2 224776802 224776802 single base substitution G A intron_variant MELA-AU 2 224777470 224777471 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 224777703 224777704 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 224778595 224778595 single base substitution C T intron_variant MELA-AU 2 224778923 224778923 single base substitution A T intron_variant MELA-AU 2 224779281 224779281 single base substitution G A intron_variant MELA-AU 2 224780508 224780508 single base substitution G A intron_variant MELA-AU 2 224780785 224780785 single base substitution G A intron_variant MELA-AU 2 224780949 224780949 single base substitution G A intron_variant MELA-AU 2 224781035 224781035 single base substitution A C intron_variant MELA-AU 2 224781513 224781513 single base substitution T A intron_variant MELA-AU 2 224781813 224781813 single base substitution G A intron_variant MELA-AU 2 224781956 224781956 single base substitution G A intron_variant MELA-AU 2 224783022 224783023 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 224783695 224783695 single base substitution G A intron_variant MELA-AU 2 224784117 224784117 single base substitution G A intron_variant MELA-AU 2 224784541 224784541 single base substitution G A intron_variant MELA-AU 2 224785348 224785348 single base substitution G A intron_variant MELA-AU 2 224785492 224785492 single base substitution C T intron_variant MELA-AU 2 224785572 224785572 single base substitution G A intron_variant MELA-AU 2 224785813 224785813 single base substitution G A intron_variant MELA-AU 2 224785886 224785886 single base substitution T C intron_variant MELA-AU 2 224785913 224785913 single base substitution A C intron_variant MELA-AU 2 224787600 224787600 single base substitution G A intron_variant MELA-AU 2 224788118 224788118 single base substitution G A intron_variant MELA-AU 2 224788863 224788863 single base substitution G A intron_variant MELA-AU 2 224789301 224789301 single base substitution G A intron_variant MELA-AU 2 224789519 224789519 single base substitution G A intron_variant MELA-AU 2 224789710 224789710 single base substitution G A intron_variant MELA-AU 2 224789775 224789775 single base substitution A G intron_variant MELA-AU 2 224791693 224791693 single base substitution A G intron_variant MELA-AU 2 224791694 224791715 deletion of <=200bp TAATATTTTGAAAGGAATCTTT - intron_variant MELA-AU 2 224792012 224792012 single base substitution G A intron_variant MELA-AU 2 224793228 224793228 single base substitution C T intron_variant MELA-AU 2 224793486 224793486 single base substitution T C intron_variant MELA-AU 2 224793909 224793909 insertion of <=200bp - TTTTG intron_variant MELA-AU 2 224794473 224794473 single base substitution G A intron_variant MELA-AU 2 224795551 224795551 single base substitution C A intron_variant MELA-AU 2 224795794 224795794 single base substitution A G intron_variant MELA-AU 2 224795824 224795824 single base substitution A T intron_variant MELA-AU 2 224796409 224796409 single base substitution T C intron_variant MELA-AU 2 224797776 224797776 single base substitution G A intron_variant MELA-AU 2 224797921 224797921 single base substitution G A intron_variant MELA-AU 2 224798666 224798666 single base substitution G A intron_variant MELA-AU 2 224798808 224798808 single base substitution T C intron_variant MELA-AU 2 224800309 224800309 single base substitution G A intron_variant MELA-AU 2 224800828 224800828 single base substitution G C intron_variant MELA-AU 2 224800857 224800867 deletion of <=200bp CAACCTATGCC - intron_variant MELA-AU 2 224800957 224800957 single base substitution T C intron_variant MELA-AU 2 224800993 224800993 single base substitution G A intron_variant MELA-AU 2 224801398 224801398 single base substitution C G intron_variant MELA-AU 2 224802274 224802274 single base substitution C T intron_variant MELA-AU 2 224802673 224802673 single base substitution A G intron_variant MELA-AU 2 224803097 224803097 single base substitution A T intron_variant MELA-AU 2 224803704 224803704 single base substitution T A intron_variant MELA-AU 2 224803796 224803796 single base substitution A G intron_variant MELA-AU 2 224804139 224804139 single base substitution C T intron_variant MELA-AU 2 224804618 224804618 single base substitution T A intron_variant MELA-AU 2 224804928 224804928 single base substitution C T intron_variant MELA-AU 2 224804981 224804981 single base substitution A T intron_variant MELA-AU 2 224805182 224805182 single base substitution T A intron_variant MELA-AU 2 224805194 224805194 single base substitution C T intron_variant MELA-AU 2 224806906 224806906 single base substitution T A intron_variant MELA-AU 2 224807569 224807569 single base substitution A C intron_variant MELA-AU 2 224807791 224807791 single base substitution A G intron_variant MELA-AU 2 224809750 224809750 single base substitution G A intron_variant MELA-AU 2 224809785 224809785 single base substitution G A intron_variant MELA-AU 2 224810155 224810155 single base substitution T A upstream_gene_variant MELA-AU 2 224810871 224810871 single base substitution A T upstream_gene_variant MELA-AU 2 224811022 224811022 single base substitution G A upstream_gene_variant MELA-AU 2 224812378 224812378 single base substitution C T upstream_gene_variant MELA-AU 2 224812543 224812543 single base substitution C T upstream_gene_variant MELA-AU 2 224812671 224812671 single base substitution G A upstream_gene_variant MELA-AU 2 224812691 224812692 multiple base substitution (>=2bp and <=200bp) CC AT upstream_gene_variant MELA-AU 2 224812953 224812953 single base substitution C T upstream_gene_variant MELA-AU 2 224814377 224814377 single base substitution G C upstream_gene_variant ORCA-IN 2 224717516 224717516 single base substitution C G downstream_gene_variant ORCA-IN 2 224729923 224729923 single base substitution A G intron_variant ORCA-IN 2 224753081 224753081 single base substitution A G intron_variant ORCA-IN 2 224756849 224756849 single base substitution G A downstream_gene_variant ORCA-IN 2 224756849 224756849 single base substitution G A intron_variant ORCA-IN 2 224765926 224765926 single base substitution G A exon_variant ORCA-IN 2 224765926 224765926 single base substitution G A synonymous_variant F110F 330C>T ORCA-IN 2 224765926 224765926 single base substitution G A synonymous_variant F153F 459C>T ORCA-IN 2 224765926 224765926 single base substitution G A upstream_gene_variant ORCA-IN 2 224770833 224770833 single base substitution A T intron_variant ORCA-IN 2 224772426 224772426 single base substitution C T intron_variant ORCA-IN 2 224776297 224776297 single base substitution A C intron_variant ORCA-IN 2 224786634 224786634 single base substitution G A intron_variant ORCA-IN 2 224791838 224791838 single base substitution C T intron_variant ORCA-IN 2 224795888 224795888 single base substitution C T intron_variant ORCA-IN 2 224803513 224803513 single base substitution G A intron_variant OV-AU 2 224715542 224715542 single base substitution G A downstream_gene_variant OV-AU 2 224719331 224719331 single base substitution C A downstream_gene_variant OV-AU 2 224720492 224720492 single base substitution T C exon_variant OV-AU 2 224721700 224721700 single base substitution T C intron_variant OV-AU 2 224721919 224721919 single base substitution C A intron_variant OV-AU 2 224727998 224727998 single base substitution C T intron_variant OV-AU 2 224732411 224732411 single base substitution G C intron_variant OV-AU 2 224735928 224735928 single base substitution A T downstream_gene_variant OV-AU 2 224735928 224735928 single base substitution A T intron_variant OV-AU 2 224737801 224737801 single base substitution T A downstream_gene_variant OV-AU 2 224737801 224737801 single base substitution T A intron_variant OV-AU 2 224741259 224741259 single base substitution C A 3_prime_UTR_variant OV-AU 2 224741259 224741259 single base substitution C A intron_variant OV-AU 2 224747043 224747043 single base substitution G C downstream_gene_variant OV-AU 2 224747043 224747043 single base substitution G C intron_variant OV-AU 2 224747043 224747043 single base substitution G C upstream_gene_variant OV-AU 2 224751164 224751164 single base substitution G A intron_variant OV-AU 2 224766926 224766926 single base substitution C T intron_variant OV-AU 2 224766926 224766926 single base substitution C T upstream_gene_variant OV-AU 2 224781334 224781334 single base substitution G C intron_variant OV-AU 2 224783629 224783629 single base substitution C G intron_variant OV-AU 2 224791407 224791407 single base substitution C G intron_variant OV-AU 2 224795360 224795360 single base substitution G T intron_variant OV-AU 2 224795970 224795970 single base substitution G A intron_variant OV-AU 2 224806712 224806712 single base substitution C T intron_variant OV-AU 2 224810234 224810234 single base substitution G A upstream_gene_variant PACA-AU 2 224718787 224718787 single base substitution G T downstream_gene_variant PACA-AU 2 224724054 224724054 deletion of <=200bp C - intron_variant PACA-AU 2 224731191 224731191 single base substitution C T intron_variant PACA-AU 2 224731220 224731220 single base substitution C T intron_variant PACA-AU 2 224735012 224735012 single base substitution G T intron_variant PACA-AU 2 224737357 224737357 single base substitution A G downstream_gene_variant PACA-AU 2 224737357 224737357 single base substitution A G intron_variant PACA-AU 2 224740655 224740655 single base substitution C A 3_prime_UTR_variant PACA-AU 2 224740655 224740655 single base substitution C A intron_variant PACA-AU 2 224749289 224749289 deletion of <=200bp A - downstream_gene_variant PACA-AU 2 224749289 224749289 deletion of <=200bp A - intron_variant PACA-AU 2 224749571 224749571 insertion of <=200bp - TTC intron_variant PACA-AU 2 224764043 224764043 single base substitution T C downstream_gene_variant PACA-AU 2 224764043 224764043 single base substitution T C intron_variant PACA-AU 2 224764043 224764043 single base substitution T C upstream_gene_variant PACA-AU 2 224764708 224764708 single base substitution C T downstream_gene_variant PACA-AU 2 224764708 224764708 single base substitution C T intron_variant PACA-AU 2 224764708 224764708 single base substitution C T upstream_gene_variant PACA-AU 2 224770990 224770990 single base substitution C A intron_variant PACA-AU 2 224790808 224790808 single base substitution T G intron_variant PACA-AU 2 224793484 224793484 single base substitution G A intron_variant PACA-AU 2 224793909 224793909 insertion of <=200bp - TTTTG intron_variant PACA-AU 2 224794775 224794775 single base substitution G C intron_variant PACA-AU 2 224796409 224796409 single base substitution T C intron_variant PACA-AU 2 224804715 224804715 single base substitution T C intron_variant PACA-AU 2 224804950 224804950 single base substitution C T intron_variant PACA-AU 2 224809987 224809987 single base substitution G A exon_variant PACA-AU 2 224809987 224809987 single base substitution G A synonymous_variant I5I 15C>T PACA-AU 2 224810053 224810053 single base substitution G A 5_prime_UTR_variant PACA-AU 2 224810053 224810053 single base substitution G A upstream_gene_variant PACA-AU 2 224810442 224810442 single base substitution A C upstream_gene_variant PACA-CA 2 224716064 224716064 single base substitution C T downstream_gene_variant PACA-CA 2 224716545 224716545 insertion of <=200bp - T downstream_gene_variant PACA-CA 2 224718824 224718824 single base substitution T C downstream_gene_variant PACA-CA 2 224720316 224720316 single base substitution C T downstream_gene_variant PACA-CA 2 224722040 224722040 single base substitution G A intron_variant PACA-CA 2 224723941 224723941 single base substitution T C intron_variant PACA-CA 2 224725960 224725960 single base substitution T C intron_variant PACA-CA 2 224728256 224728256 single base substitution G A intron_variant PACA-CA 2 224729135 224729135 insertion of <=200bp - A intron_variant PACA-CA 2 224729542 224729542 single base substitution T C intron_variant PACA-CA 2 224731838 224731838 single base substitution C A intron_variant PACA-CA 2 224736798 224736798 single base substitution T C downstream_gene_variant PACA-CA 2 224736798 224736798 single base substitution T C intron_variant PACA-CA 2 224740498 224740498 insertion of <=200bp - T 3_prime_UTR_variant PACA-CA 2 224740498 224740498 insertion of <=200bp - T intron_variant PACA-CA 2 224745859 224745859 single base substitution G A downstream_gene_variant PACA-CA 2 224745859 224745859 single base substitution G A intron_variant PACA-CA 2 224745859 224745859 single base substitution G A upstream_gene_variant PACA-CA 2 224757141 224757141 insertion of <=200bp - A downstream_gene_variant PACA-CA 2 224757141 224757141 insertion of <=200bp - A intron_variant PACA-CA 2 224760361 224760361 single base substitution A T intron_variant PACA-CA 2 224760361 224760361 single base substitution A T upstream_gene_variant PACA-CA 2 224761876 224761876 single base substitution G A downstream_gene_variant PACA-CA 2 224761876 224761876 single base substitution G A intron_variant PACA-CA 2 224761876 224761876 single base substitution G A upstream_gene_variant PACA-CA 2 224763643 224763643 deletion of <=200bp A - downstream_gene_variant PACA-CA 2 224763643 224763643 deletion of <=200bp A - intron_variant PACA-CA 2 224763643 224763643 deletion of <=200bp A - upstream_gene_variant PACA-CA 2 224764668 224764668 single base substitution C T downstream_gene_variant PACA-CA 2 224764668 224764668 single base substitution C T intron_variant PACA-CA 2 224764668 224764668 single base substitution C T upstream_gene_variant PACA-CA 2 224767045 224767045 single base substitution C T intron_variant PACA-CA 2 224767045 224767045 single base substitution C T upstream_gene_variant PACA-CA 2 224767353 224767353 single base substitution C T intron_variant PACA-CA 2 224767353 224767353 single base substitution C T upstream_gene_variant PACA-CA 2 224770922 224770922 single base substitution T C intron_variant PACA-CA 2 224774046 224774046 deletion of <=200bp G - intron_variant PACA-CA 2 224782415 224782415 single base substitution A G intron_variant PACA-CA 2 224786085 224786085 single base substitution G A intron_variant PACA-CA 2 224788482 224788482 single base substitution A T intron_variant PACA-CA 2 224790930 224790930 single base substitution C G intron_variant PACA-CA 2 224792116 224792116 single base substitution C T intron_variant PACA-CA 2 224793701 224793701 single base substitution G A intron_variant PACA-CA 2 224798810 224798810 single base substitution T C intron_variant PACA-CA 2 224799971 224799971 deletion of <=200bp A - intron_variant PACA-CA 2 224801000 224801000 single base substitution A G intron_variant PACA-CA 2 224801530 224801530 single base substitution G A intron_variant PACA-CA 2 224804946 224804946 single base substitution G A intron_variant PACA-CA 2 224805354 224805354 single base substitution A C intron_variant PACA-CA 2 224807091 224807091 single base substitution C G intron_variant PACA-CA 2 224808095 224808095 single base substitution C T intron_variant PACA-CA 2 224810263 224810263 single base substitution A G upstream_gene_variant PACA-CA 2 224810612 224810612 single base substitution G T upstream_gene_variant PAEN-AU 2 224760756 224760756 single base substitution C T downstream_gene_variant PAEN-AU 2 224760756 224760756 single base substitution C T intron_variant PAEN-AU 2 224760756 224760756 single base substitution C T upstream_gene_variant PAEN-AU 2 224768429 224768429 single base substitution C G intron_variant PAEN-AU 2 224768429 224768429 single base substitution C G upstream_gene_variant PAEN-AU 2 224796406 224796406 insertion of <=200bp - TC intron_variant PAEN-IT 2 224729671 224729671 single base substitution G C intron_variant PAEN-IT 2 224792665 224792665 single base substitution G T intron_variant PBCA-DE 2 224726776 224726776 insertion of <=200bp - AT intron_variant PBCA-DE 2 224726776 224726777 deletion of <=200bp AT - intron_variant PBCA-DE 2 224727233 224727233 deletion of <=200bp A - intron_variant PBCA-DE 2 224727510 224727510 single base substitution G A intron_variant PBCA-DE 2 224749228 224749228 single base substitution C T downstream_gene_variant PBCA-DE 2 224749228 224749228 single base substitution C T intron_variant PBCA-DE 2 224749910 224749910 single base substitution G T intron_variant PBCA-DE 2 224768671 224768671 single base substitution C G intron_variant PBCA-DE 2 224768671 224768671 single base substitution C G upstream_gene_variant PBCA-DE 2 224768879 224768879 single base substitution T A intron_variant PBCA-DE 2 224768879 224768879 single base substitution T A upstream_gene_variant PBCA-DE 2 224776337 224776337 single base substitution T A intron_variant PBCA-DE 2 224782457 224782457 insertion of <=200bp - ATGTT intron_variant PBCA-DE 2 224798149 224798149 single base substitution C A intron_variant PBCA-DE 2 224799677 224799677 single base substitution C T intron_variant PBCA-DE 2 224803849 224803849 single base substitution C T intron_variant PBCA-DE 2 224808991 224808991 single base substitution C T intron_variant PRAD-CA 2 224731196 224731196 single base substitution C T intron_variant PRAD-CA 2 224768378 224768378 single base substitution T A intron_variant PRAD-CA 2 224768378 224768378 single base substitution T A upstream_gene_variant PRAD-CA 2 224773394 224773394 single base substitution T C intron_variant PRAD-CA 2 224790327 224790327 single base substitution C A intron_variant PRAD-CA 2 224791630 224791630 single base substitution C G intron_variant PRAD-UK 2 224720772 224720772 single base substitution T G intron_variant PRAD-UK 2 224754591 224754591 single base substitution T G downstream_gene_variant PRAD-UK 2 224754591 224754591 single base substitution T G intron_variant PRAD-UK 2 224761032 224761032 single base substitution A C downstream_gene_variant PRAD-UK 2 224761032 224761032 single base substitution A C intron_variant PRAD-UK 2 224761032 224761032 single base substitution A C upstream_gene_variant PRAD-UK 2 224764456 224764456 single base substitution A C downstream_gene_variant PRAD-UK 2 224764456 224764456 single base substitution A C intron_variant PRAD-UK 2 224764456 224764456 single base substitution A C upstream_gene_variant PRAD-UK 2 224782508 224782508 single base substitution C A intron_variant PRAD-UK 2 224783182 224783182 deletion of <=200bp A - intron_variant PRAD-UK 2 224790848 224790848 single base substitution C A intron_variant PRAD-UK 2 224802823 224802823 single base substitution C G intron_variant PRAD-UK 2 224803123 224803123 single base substitution T C intron_variant PRAD-US 2 224749392 224749392 single base substitution C A exon_variant PRAD-US 2 224749392 224749392 single base substitution C A missense_variant W302C 906G>T RECA-EU 2 224728975 224728975 single base substitution T C intron_variant RECA-EU 2 224731231 224731231 single base substitution T C intron_variant RECA-EU 2 224731232 224731232 single base substitution C T intron_variant RECA-EU 2 224748253 224748253 single base substitution T A downstream_gene_variant RECA-EU 2 224748253 224748253 single base substitution T A intron_variant RECA-EU 2 224748253 224748253 single base substitution T A upstream_gene_variant RECA-EU 2 224784478 224784478 single base substitution G A intron_variant RECA-EU 2 224797698 224797698 single base substitution A G intron_variant RECA-EU 2 224800601 224800601 single base substitution A G intron_variant RECA-EU 2 224802488 224802488 single base substitution C A intron_variant RECA-EU 2 224802654 224802654 single base substitution T A intron_variant SKCA-BR 2 224720232 224720232 single base substitution A T downstream_gene_variant SKCA-BR 2 224728263 224728263 single base substitution G A intron_variant SKCA-BR 2 224728401 224728401 single base substitution G A intron_variant SKCA-BR 2 224731214 224731214 single base substitution C T intron_variant SKCA-BR 2 224734527 224734527 single base substitution T G intron_variant SKCA-BR 2 224737651 224737651 single base substitution T C downstream_gene_variant SKCA-BR 2 224737651 224737651 single base substitution T C intron_variant SKCA-BR 2 224740146 224740146 single base substitution G A 3_prime_UTR_variant SKCA-BR 2 224740146 224740146 single base substitution G A intron_variant SKCA-BR 2 224741511 224741511 single base substitution G A 3_prime_UTR_variant SKCA-BR 2 224741511 224741511 single base substitution G A intron_variant SKCA-BR 2 224742712 224742712 single base substitution A T 3_prime_UTR_variant SKCA-BR 2 224742712 224742712 single base substitution A T intron_variant SKCA-BR 2 224742740 224742740 single base substitution G A 3_prime_UTR_variant SKCA-BR 2 224742740 224742740 single base substitution G A intron_variant SKCA-BR 2 224742960 224742960 single base substitution T C 3_prime_UTR_variant SKCA-BR 2 224742960 224742960 single base substitution T C intron_variant SKCA-BR 2 224742982 224742982 single base substitution A C 3_prime_UTR_variant SKCA-BR 2 224742982 224742982 single base substitution A C intron_variant SKCA-BR 2 224748498 224748498 single base substitution G A downstream_gene_variant SKCA-BR 2 224748498 224748498 single base substitution G A intron_variant SKCA-BR 2 224748828 224748828 single base substitution G A downstream_gene_variant SKCA-BR 2 224748828 224748828 single base substitution G A intron_variant SKCA-BR 2 224750247 224750247 single base substitution G A intron_variant SKCA-BR 2 224752391 224752391 single base substitution A T intron_variant SKCA-BR 2 224753519 224753519 single base substitution G A intron_variant SKCA-BR 2 224758098 224758098 single base substitution T A downstream_gene_variant SKCA-BR 2 224758098 224758098 single base substitution T A intron_variant SKCA-BR 2 224762068 224762068 insertion of <=200bp - CATATATATAT downstream_gene_variant SKCA-BR 2 224762068 224762068 insertion of <=200bp - CATATATATAT intron_variant SKCA-BR 2 224762068 224762068 insertion of <=200bp - CATATATATAT upstream_gene_variant SKCA-BR 2 224765873 224765873 single base substitution G A exon_variant SKCA-BR 2 224765873 224765873 single base substitution G A intron_variant SKCA-BR 2 224765873 224765873 single base substitution G A upstream_gene_variant SKCA-BR 2 224765874 224765874 single base substitution G A exon_variant SKCA-BR 2 224765874 224765874 single base substitution G A intron_variant SKCA-BR 2 224765874 224765874 single base substitution G A upstream_gene_variant SKCA-BR 2 224766572 224766572 single base substitution T A intron_variant SKCA-BR 2 224766572 224766572 single base substitution T A upstream_gene_variant SKCA-BR 2 224768245 224768246 deletion of <=200bp AC - intron_variant SKCA-BR 2 224768245 224768246 deletion of <=200bp AC - upstream_gene_variant SKCA-BR 2 224768378 224768380 deletion of <=200bp TAA - intron_variant SKCA-BR 2 224768378 224768380 deletion of <=200bp TAA - upstream_gene_variant SKCA-BR 2 224771172 224771172 single base substitution T A intron_variant SKCA-BR 2 224771671 224771674 deletion of <=200bp CCAT - intron_variant SKCA-BR 2 224776293 224776293 single base substitution A C intron_variant SKCA-BR 2 224782918 224782918 single base substitution T C intron_variant SKCA-BR 2 224785169 224785169 single base substitution G A intron_variant SKCA-BR 2 224788477 224788477 insertion of <=200bp - CA intron_variant SKCA-BR 2 224791363 224791363 insertion of <=200bp - ATGTG intron_variant SKCA-BR 2 224792256 224792256 single base substitution G A intron_variant SKCA-BR 2 224792302 224792302 single base substitution T G intron_variant SKCA-BR 2 224792337 224792337 single base substitution G A intron_variant SKCA-BR 2 224793897 224793897 insertion of <=200bp - CTGTTTTT intron_variant SKCA-BR 2 224793907 224793907 insertion of <=200bp - TTTTTTG intron_variant SKCA-BR 2 224793910 224793910 insertion of <=200bp - TTTGTTA intron_variant SKCA-BR 2 224796407 224796407 single base substitution T C intron_variant SKCA-BR 2 224796712 224796712 single base substitution T A intron_variant SKCA-BR 2 224797585 224797585 insertion of <=200bp - GAA intron_variant SKCA-BR 2 224799639 224799639 single base substitution G A intron_variant SKCA-BR 2 224800795 224800796 deletion of <=200bp TG - intron_variant SKCA-BR 2 224802139 224802139 single base substitution G C intron_variant SKCA-BR 2 224807242 224807242 single base substitution A T intron_variant SKCA-BR 2 224807243 224807243 single base substitution A T intron_variant SKCA-BR 2 224807244 224807244 single base substitution C T intron_variant SKCA-BR 2 224808342 224808342 single base substitution A T intron_variant SKCA-BR 2 224813001 224813001 single base substitution C T upstream_gene_variant SKCM-US 2 224749382 224749382 single base substitution T C downstream_gene_variant SKCM-US 2 224749382 224749382 single base substitution T C missense_variant T306A 916A>G SKCM-US 2 224759028 224759028 single base substitution G T exon_variant SKCM-US 2 224759028 224759028 single base substitution G T missense_variant Q209K 625C>A SKCM-US 2 224759028 224759028 single base substitution G T missense_variant Q252K 754C>A STAD-US 2 224746715 224746715 single base substitution G A downstream_gene_variant STAD-US 2 224746715 224746715 single base substitution G A synonymous_variant G336G 1008C>T STAD-US 2 224746715 224746715 single base substitution G A upstream_gene_variant STAD-US 2 224758990 224758990 single base substitution G A downstream_gene_variant STAD-US 2 224758990 224758990 single base substitution G A exon_variant STAD-US 2 224758990 224758990 single base substitution G A synonymous_variant G264G 792C>T STAD-US 2 224758993 224758993 single base substitution G A downstream_gene_variant STAD-US 2 224758993 224758993 single base substitution G A exon_variant STAD-US 2 224758993 224758993 single base substitution G A synonymous_variant D263D 789C>T STAD-US 2 224763705 224763705 single base substitution A G downstream_gene_variant STAD-US 2 224763705 224763705 single base substitution A G exon_variant STAD-US 2 224763705 224763705 single base substitution A G missense_variant S147P 439T>C STAD-US 2 224763705 224763705 single base substitution A G missense_variant S190P 568T>C STAD-US 2 224763705 224763705 single base substitution A G upstream_gene_variant STAD-US 2 224765909 224765909 single base substitution G A exon_variant STAD-US 2 224765909 224765909 single base substitution G A missense_variant S116L 347C>T STAD-US 2 224765909 224765909 single base substitution G A missense_variant S159L 476C>T STAD-US 2 224765909 224765909 single base substitution G A upstream_gene_variant STAD-US 2 224782711 224782711 single base substitution G A exon_variant STAD-US 2 224782711 224782711 single base substitution G A synonymous_variant L52L 154C>T THCA-SA 2 224740332 224740332 single base substitution A T 3_prime_UTR_variant THCA-SA 2 224740332 224740332 single base substitution A T intron_variant UCEC-US 2 224744851 224744851 single base substitution C T downstream_gene_variant UCEC-US 2 224744851 224744851 single base substitution C T missense_variant R388H 1163G>A UCEC-US 2 224744851 224744851 single base substitution C T upstream_gene_variant UCEC-US 2 224746657 224746657 single base substitution A G downstream_gene_variant UCEC-US 2 224746657 224746657 single base substitution A G splice_donor_variant UCEC-US 2 224746657 224746657 single base substitution A G upstream_gene_variant UCEC-US 2 224746674 224746674 single base substitution G A downstream_gene_variant UCEC-US 2 224746674 224746674 single base substitution G A missense_variant S350F 1049C>T UCEC-US 2 224746674 224746674 single base substitution G A upstream_gene_variant UCEC-US 2 224758956 224758956 single base substitution C A downstream_gene_variant UCEC-US 2 224758956 224758956 single base substitution C A exon_variant UCEC-US 2 224758956 224758956 single base substitution C A stop_gained E276* 826G>T UCEC-US 2 224760221 224760221 single base substitution T C missense_variant H199R 596A>G UCEC-US 2 224760221 224760221 single base substitution T C missense_variant H242R 725A>G UCEC-US 2 224760221 224760221 single base substitution T C splice_region_variant UCEC-US 2 224760221 224760221 single base substitution T C upstream_gene_variant UCEC-US 2 224760304 224760304 single base substitution G C exon_variant UCEC-US 2 224760304 224760304 single base substitution G C synonymous_variant L171L 513C>G UCEC-US 2 224760304 224760304 single base substitution G C synonymous_variant L214L 642C>G UCEC-US 2 224760304 224760304 single base substitution G C upstream_gene_variant UCEC-US 2 224763755 224763755 single base substitution C T downstream_gene_variant UCEC-US 2 224763755 224763755 single base substitution C T exon_variant UCEC-US 2 224763755 224763755 single base substitution C T missense_variant G130D 389G>A UCEC-US 2 224763755 224763755 single base substitution C T missense_variant G173D 518G>A UCEC-US 2 224763755 224763755 single base substitution C T upstream_gene_variant UCEC-US 2 224763760 224763760 single base substitution G A downstream_gene_variant UCEC-US 2 224763760 224763760 single base substitution G A exon_variant UCEC-US 2 224763760 224763760 single base substitution G A synonymous_variant F128F 384C>T UCEC-US 2 224763760 224763760 single base substitution G A synonymous_variant F171F 513C>T UCEC-US 2 224763760 224763760 single base substitution G A upstream_gene_variant UCEC-US 2 224765929 224765929 single base substitution G A exon_variant UCEC-US 2 224765929 224765929 single base substitution G A synonymous_variant H109H 327C>T UCEC-US 2 224765929 224765929 single base substitution G A synonymous_variant H152H 456C>T UCEC-US 2 224765929 224765929 single base substitution G A upstream_gene_variant UCEC-US 2 224770671 224770671 single base substitution G A exon_variant UCEC-US 2 224770671 224770671 single base substitution G A intron_variant UCEC-US 2 224770671 224770671 single base substitution G A synonymous_variant T109T 327C>T UCEC-US 2 224770686 224770686 single base substitution C A exon_variant UCEC-US 2 224770686 224770686 single base substitution C A intron_variant UCEC-US 2 224770686 224770686 single base substitution C A missense_variant M104I 312G>T UCEC-US 2 224777004 224777004 single base substitution C T exon_variant UCEC-US 2 224777004 224777004 single base substitution C T intron_variant UCEC-US 2 224777004 224777004 single base substitution C T missense_variant R82Q 245G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-22-4593-01 COSM720534 c.27G>A p.P9P Substitution - coding silent 2:223945258-223945258 - TCGA-BS-A0UV-01 COSM1017080 c.513C>T p.F171F Substitution - coding silent 2:223899043-223899043 - HCT116 COSM1669802 c.700C>T p.R234W Substitution - Missense 2:223895529-223895529 - NPC18F COSM4996202 c.779G>C p.C260S Substitution - Missense 2:223894286-223894286 - HCC2998 COSM1669803 c.282A>C p.E94D Substitution - Missense 2:223905999-223905999 - CSCC-29-T COSM4450607 c.716delA p.Q239fs*60 Deletion - Frameshift 2:223895513-223895513 - TCGA-BS-A0UJ-01 COSM165551 c.245G>A p.R82Q Substitution - Missense 2:223912287-223912287 - BD57T COSM4740807 c.435C>T p.S145S Substitution - coding silent 2:223901233-223901233 - TCGA-AG-A002-01 COSM264681 c.606C>T p.V202V Substitution - coding silent 2:223895623-223895623 - TCGA-BR-8487-01 COSM4091936 c.476C>T p.S159L Substitution - Missense 2:223901192-223901192 - pfg019T COSM1641850 c.1158C>T p.T386T Substitution - coding silent 2:223880139-223880139 - TCGA-G4-6304-01 COSM1405838 c.1186A>C p.T396P Substitution - Missense 2:223878718-223878718 - TCGA-CM-4743-01 COSM1405840 c.793G>A p.G265R Substitution - Missense 2:223894272-223894272 - TCGA-G4-6588-01 COSM1405837 c.1188A>G p.T396T Substitution - coding silent 2:223878716-223878716 - 8047850 COSM3391522 c.15C>T p.I5I Substitution - coding silent 2:223945270-223945270 - CMPC11-3104 COSM5095099 c.984G>A p.K328K Substitution - coding silent 2:223882022-223882022 - TCGA-BC-A10W-01 COSM4937210 c.964T>C p.C322R Substitution - Missense 2:223882042-223882042 - TCGA-EJ-5521-01 COSM1129302 c.906G>T p.W302C Substitution - Missense 2:223884675-223884675 - PT37 COSM5917938 c.832-7C>T p.? Unknown 2:223884756-223884756 - SWE-7 COSM1178630 c.987C>T p.R329R Substitution - coding silent 2:223882019-223882019 - RK175_C01 COSM3743620 c.1140G>A p.L380L Substitution - coding silent 2:223880157-223880157 - TCGA-AX-A060-01 COSM1017076 c.725A>G p.H242R Substitution - Missense 2:223895504-223895504 - DLD1 COSM4624613 c.358A>G p.I120V Substitution - Missense 2:223901310-223901310 - Pat_24_B COSM1017078 c.563C>T p.T188M Substitution - Missense 2:223898993-223898993 - TCGA-AP-A059-01 COSM1017082 c.327C>T p.T109T Substitution - coding silent 2:223905954-223905954 - PT19_2 COSM5899914 c.599-5C>T p.? Unknown 2:223895635-223895635 - HCT-116 COSM1669802 c.700C>T p.R234W Substitution - Missense 2:223895529-223895529 - TCGA-B5-A0JV-01 COSM1017078 c.563C>T p.T188M Substitution - Missense 2:223898993-223898993 - ESCC_156 COSM5646037 c.948A>G p.K316K Substitution - coding silent 2:223882058-223882058 - HCC2998 COSM1669803 c.282A>C p.E94D Substitution - Missense 2:223905999-223905999 - TCGA-BR-4184-01 COSM4091934 c.792C>T p.G264G Substitution - coding silent 2:223894273-223894273 - HCA7 COSM4630719 c.607G>A p.A203T Substitution - Missense 2:223895622-223895622 - LUAD-F00089 COSM339785 c.453G>T p.R151S Substitution - Missense 2:223901215-223901215 - H650 COSM1194423 c.986G>C p.R329P Substitution - Missense 2:223882020-223882020 - TCGA-D1-A16Y-01 COSM1017072 c.1163G>A p.R388H Substitution - Missense 2:223880134-223880134 - TCGA-CG-5721-01 COSM4091935 c.568T>C p.S190P Substitution - Missense 2:223898988-223898988 - NCI-H128 COSM22760 c.749A>T p.Y250F Substitution - Missense 2:223894316-223894316 - BD236T COSM5518378 c.145C>T p.R49W Substitution - Missense 2:223918003-223918003 - TCGA-D1-A103-01 COSM1017081 c.456C>T p.H152H Substitution - coding silent 2:223901212-223901212 - sysucc-1317T COSM3046320 c.402C>T p.H134H Substitution - coding silent 2:223901266-223901266 - QC2-39-T2 COSM5655454 c.1033G>C p.D345H Substitution - Missense 2:223881973-223881973 - T1154 COSM4740805 c.1141A>G p.M381V Substitution - Missense 2:223880156-223880156 - TCGA-BG-A0MQ-01 COSM1017073 c.1064+2T>C p.? Unknown 2:223881940-223881940 - LC_S3 COSM1186140 c.695A>T p.K232I Substitution - Missense 2:223895534-223895534 - Gp5D COSM3046330 c.180G>A p.W60* Substitution - Nonsense 2:223917968-223917968 - TCGA-AP-A0LM-01 COSM1017075 c.826G>T p.E276* Substitution - Nonsense 2:223894239-223894239 - ESO-114 COSM1270361 c.862C>A p.Q288K Substitution - Missense 2:223884719-223884719 - LUAD-RT-S01477 COSM377595 c.585C>T p.L195L Substitution - coding silent 2:223898971-223898971 - TCGA-AG-3891-01 COSM5069010 c.857C>A p.S286Y Substitution - Missense 2:223884724-223884724 - TCGA-AP-A0LL-01 COSM1017077 c.642C>G p.L214L Substitution - coding silent 2:223895587-223895587 - OSCC-GB_00330111 COSM3714142 c.459C>T p.F153F Substitution - coding silent 2:223901209-223901209 - TCGA-BR-4201-01 COSM3046312 c.789C>T p.D263D Substitution - coding silent 2:223894276-223894276 - PD4264a COSM5768426 c.1159G>A p.D387N Substitution - Missense 2:223880138-223880138 - P05-2594 COSM248314 c.759C>A p.L253L Substitution - coding silent 2:223894306-223894306 - 2334199 COSM324280 c.10G>T p.E4* Substitution - Nonsense 2:223945275-223945275 - S02289 COSM5686075 c.434G>A p.S145N Substitution - Missense 2:223901234-223901234 - TCGA-CM-4752-01 COSM1405842 c.18C>T p.H6H Substitution - coding silent 2:223945267-223945267 - TCGA-BR-6566-01 COSM4091937 c.154C>T p.L52L Substitution - coding silent 2:223917994-223917994 - TCGA-AA-3715-01 COSM270548 c.649G>A p.G217R Substitution - Missense 2:223895580-223895580 - CHC909T COSM4806244 c.150A>G p.V50V Substitution - coding silent 2:223917998-223917998 - SWE-54A COSM1178464 c.697G>A p.G233S Substitution - Missense 2:223895532-223895532 - TCGA-BH-A0HF-01 COSM3838726 c.1014G>A p.E338E Substitution - coding silent 2:223881992-223881992 - RK230_C01 COSM4943849 c.38G>T p.R13L Substitution - Missense 2:223945247-223945247 - TCGA-CG-5723-01 COSM4091933 c.1008C>T p.G336G Substitution - coding silent 2:223881998-223881998 - T207 COSM4740804 c.1157C>T p.T386I Substitution - Missense 2:223880140-223880140 - TCGA-FU-A3HZ-01 COSM4840443 c.938A>C p.H313P Substitution - Missense 2:223882068-223882068 - CHC909T COSM4806244 c.150A>G p.V50V Substitution - coding silent 2:223917998-223917998 - TCGA-AP-A0LQ-01 COSM1017079 c.518G>A p.G173D Substitution - Missense 2:223899038-223899038 - HCC003T COSM5819601 c.968G>C p.G323A Substitution - Missense 2:223882038-223882038 - TCGA-EE-A20C-06 COSM3909696 c.916A>G p.T306A Substitution - Missense 2:223884665-223884665 - TCGA-AN-A046-01 COSM3838727 c.986G>A p.R329H Substitution - Missense 2:223882020-223882020 - CN-AML-NR-08-Dx COSM5426219 c.429G>A p.T143T Substitution - coding silent 2:223901239-223901239 - HCC157T COSM3709451 c.947A>T p.K316I Substitution - Missense 2:223882059-223882059 - TCGA-60-2709-01 COSM720535 c.738G>C p.Q246H Substitution - Missense 2:223894327-223894327 - LC_S51 COSM1186141 c.583C>T p.L195F Substitution - Missense 2:223898973-223898973 - HCC157 COSM3709451 c.947A>T p.K316I Substitution - Missense 2:223882059-223882059 - CSCC-31-T COSM4571525 c.482T>G p.L161R Substitution - Missense 2:223901186-223901186 - I2L-P7-Tumor-Organoid COSM4091936 c.476C>T p.S159L Substitution - Missense 2:223901192-223901192 - T368 COSM4740807 c.435C>T p.S145S Substitution - coding silent 2:223901233-223901233 - RK028_C01 COSM3743621 c.56A>C p.K19T Substitution - Missense 2:223945229-223945229 - TCGA-EE-A20C-06 COSM3578258 c.754C>A p.Q252K Substitution - Missense 2:223894311-223894311 - TCGA-AR-A1AK-01 COSM442393 c.161G>A p.R54K Substitution - Missense 2:223917987-223917987 - CN-AML-08-T COSM5426219 c.429G>A p.T143T Substitution - coding silent 2:223901239-223901239 - PD4203a COSM165551 c.245G>A p.R82Q Substitution - Missense 2:223912287-223912287 - TCGA-B0-4818-01 COSM476982 c.505T>C p.Y169H Substitution - Missense 2:223899051-223899051 - TCGA-BS-A0UV-01 COSM1017083 c.312G>T p.M104I Substitution - Missense 2:223905969-223905969 - T3021 COSM4740806 c.1067G>A p.R356Q Substitution - Missense 2:223880230-223880230 - TCGA-A6-6781-01 COSM1405841 c.637T>C p.L213L Substitution - coding silent 2:223895592-223895592 - CN-AML-CR-7-Dx COSM5428604 c.485+6C>T p.? Unknown 2:223901177-223901177 - TCGA-AK-3451-01 COSM476980 c.1085T>C p.F362S Substitution - Missense 2:223880212-223880212 - LUAD-S01346 COSM397708 c.1179G>A p.W393* Substitution - Nonsense 2:223878725-223878725 - STC263 COSM5058708 c.967G>A p.G323R Substitution - Missense 2:223882039-223882039 - TCGA-B5-A11E-01 COSM1017074 c.1049C>T p.S350F Substitution - Missense 2:223881957-223881957 - 2290930 COSM4439897 c.884delT p.F295fs*4 Deletion - Frameshift 2:223884697-223884697 - 33T COSM3714142 c.459C>T p.F153F Substitution - coding silent 2:223901209-223901209 - CSCC-49-T COSM4521864 c.1134G>A p.R378R Substitution - coding silent 2:223880163-223880163 - CSCC-60-T COSM4520457 c.105G>A p.K35K Substitution - coding silent 2:223945180-223945180 - TCGA-DM-A1D4-01 COSM1405839 c.1065T>C p.D355D Substitution - coding silent 2:223880232-223880232 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.368357;Hs.368359 2q36.1 1519951|dbSNP|BC040525|C/T|non-coding||3930|Validated; 1519951|dbSNP|BC065934|C/T|non-coding||3962|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.S247P c.739T>C 2 224759043 STAD A G SpliceDonorSNV . c.1064+2T>C 2 224746657 UCEC C A Missense p.D166Y c.496G>T 2 224763777 LUAD C A Missense p.W302C c.906G>T 2 224749392 PRAD C A Nonsense p.E4* c.10G>T 2 224809992 SCLC C G Missense p.Q10H c.30G>C 2 224809972 HNSC C G Missense p.Q246H c.738G>C 2 224759044 LUSC C G Synonymous p.T306T c.918G>C 2 224749380 HNSC C T Missense p.C401Y c.1202G>A 2 224743419 HNSC C T Missense p.E44K c.130G>A 2 224809872 HNSC C T Missense p.G173D c.518G>A 2 224763755 UCEC C T Missense p.R388H c.1163G>A 2 224744851 UCEC C T Missense p.R54K c.161G>A 2 224782704 BRCA C T Missense p.R82Q c.245G>A 2 224777004 BRCA C T Synonymous p.P9P c.27G>A 2 224809975 LUSC C T Synonymous p.T155T c.465G>A 2 224765920 HNSC G A 3-UTRSNV . c.1230+2422C>T 2 224740969 HC G A Missense p.P70L c.209C>T 2 224777040 CM G A Synonymous p.D263D c.789C>T 2 224758993 STAD G A Synonymous p.T386T c.1158C>T 2 224744856 STAD G C Synonymous p.L214L c.642C>G 2 224760304 UCEC G T Missense p.Q252K c.754C>A 2 224759028 CM G T Missense p.Q288K c.862C>A 2 224749436 ESCA T C Missense p.H242R c.725A>G 2 224760221 UCEC T C Missense p.M93V c.277A>G 2 224776972 CM T C Missense p.T306A c.916A>G 2 224749382 CM