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 22 43289603 43289603 + Missense_Mutation SNP C C T TCGA-P6-A5OH-01A-11D-A30A-10 TCGA-P6-A5OH-11A-01D-A30A-10 g.chr22:43289603C>T c.77G>A c.(76-78)cGg>cAg p.R26Q BLCA 22 43267410 43267410 + Missense_Mutation SNP C C T TCGA-XF-AAN5-01A-11D-A42E-08 TCGA-XF-AAN5-10A-01D-A42H-08 g.chr22:43267410C>T c.1414G>A c.(1414-1416)Ggg>Agg p.G472R BLCA 22 43267465 43267465 + Silent SNP C C G TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr22:43267465C>G c.1359G>C c.(1357-1359)ctG>ctC p.L453L BLCA 22 43272946 43272946 + Missense_Mutation SNP C C T TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr22:43272946C>T c.1099G>A c.(1099-1101)Gag>Aag p.E367K BLCA 22 43284697 43284697 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 g.chr22:43284697G>A c.561C>T c.(559-561)ctC>ctT p.L187L BLCA 22 43286959 43286959 + Silent SNP C C T TCGA-HQ-A5NE-01A-12D-A289-08 TCGA-HQ-A5NE-10A-01D-A289-08 g.chr22:43286959C>T c.447G>A c.(445-447)ctG>ctA p.L149L BLCA 22 43287141 43287141 + Nonsense_Mutation SNP C C A TCGA-GU-AATQ-01A-11D-A391-08 TCGA-GU-AATQ-10A-01D-A394-08 g.chr22:43287141C>A c.265G>T c.(265-267)Gag>Tag p.E89* BRCA 22 43267475 43267475 + Splice_Site SNP C C G TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 g.chr22:43267475C>G c.1349G>C c.(1348-1350)gGg>gCg p.G450A BRCA 22 43275089 43275089 + Missense_Mutation SNP C C G TCGA-E2-A1LH-01A-11D-A14G-09 TCGA-E2-A1LH-11A-22D-A14G-09 g.chr22:43275089C>G c.993G>C c.(991-993)caG>caC p.Q331H BRCA 22 43287091 43287091 + Missense_Mutation SNP C C G TCGA-GM-A3NW-01A-21D-A228-09 TCGA-GM-A3NW-10A-01D-A22A-09 g.chr22:43287091C>G c.315G>C c.(313-315)atG>atC p.M105I BRCA 22 43287157 43287157 + Missense_Mutation SNP C C G TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 g.chr22:43287157C>G c.249G>C c.(247-249)tgG>tgC p.W83C CESC 22 43289475 43289475 + Missense_Mutation SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr22:43289475G>T c.205C>A c.(205-207)Ctc>Atc p.L69I COAD 22 43267390 43267390 + Silent SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr22:43267390C>T c.1434G>A c.(1432-1434)ccG>ccA p.P478P COAD 22 43267432 43267432 + Nonsense_Mutation SNP C C T TCGA-CM-5349-01A-21D-1719-10 TCGA-CM-5349-10A-01D-1719-10 g.chr22:43267432C>T c.1392G>A c.(1390-1392)tgG>tgA p.W464* COAD 22 43267471 43267471 + Silent SNP A A G TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr22:43267471A>G c.1353T>C c.(1351-1353)gaT>gaC p.D451D COAD 22 43272243 43272243 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr22:43272243C>T c.1248G>A c.(1246-1248)tcG>tcA p.S416S COAD 22 43278311 43278311 + Splice_Site SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr22:43278311C>A c.e7-1 COAD 22 43280556 43280556 + Missense_Mutation SNP C C G TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr22:43280556C>G c.621G>C c.(619-621)aaG>aaC p.K207N COAD 22 43284694 43284694 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr22:43284694C>A c.564G>T c.(562-564)aaG>aaT p.K188N COAD 22 43284694 43284694 + Missense_Mutation SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr22:43284694C>A c.564G>T c.(562-564)aaG>aaT p.K188N COAD 22 43284795 43284795 + Missense_Mutation SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr22:43284795C>T c.463G>A c.(463-465)Gca>Aca p.A155T COAD 22 43287010 43287010 + Silent SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr22:43287010C>T c.396G>A c.(394-396)aaG>aaA p.K132K COAD 22 43287079 43287079 + Silent SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr22:43287079G>A c.327C>T c.(325-327)ttC>ttT p.F109F COAD 22 43287079 43287079 + Silent SNP G G A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr22:43287079G>A c.327C>T c.(325-327)ttC>ttT p.F109F COAD 22 43287100 43287100 + Silent SNP G G T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr22:43287100G>T c.306C>A c.(304-306)gcC>gcA p.A102A COAD 22 43289531 43289531 + Missense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr22:43289531C>T c.149G>A c.(148-150)cGc>cAc p.R50H COADREAD 22 43267390 43267390 + Silent SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr22:43267390C>T c.1434G>A c.(1432-1434)ccG>ccA p.P478P COADREAD 22 43267432 43267432 + Nonsense_Mutation SNP C C T TCGA-CM-5349-01A-21D-1719-10 TCGA-CM-5349-10A-01D-1719-10 g.chr22:43267432C>T c.1392G>A c.(1390-1392)tgG>tgA p.W464* COADREAD 22 43267471 43267471 + Silent SNP A A G TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr22:43267471A>G c.1353T>C c.(1351-1353)gaT>gaC p.D451D COADREAD 22 43272243 43272243 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr22:43272243C>T c.1248G>A c.(1246-1248)tcG>tcA p.S416S COADREAD 22 43278311 43278311 + Splice_Site SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr22:43278311C>A c.e7-1 COADREAD 22 43280556 43280556 + Missense_Mutation SNP C C G TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr22:43280556C>G c.621G>C c.(619-621)aaG>aaC p.K207N COADREAD 22 43284694 43284694 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr22:43284694C>A c.564G>T c.(562-564)aaG>aaT p.K188N COADREAD 22 43284694 43284694 + Missense_Mutation SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr22:43284694C>A c.564G>T c.(562-564)aaG>aaT p.K188N COADREAD 22 43284795 43284795 + Missense_Mutation SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr22:43284795C>T c.463G>A c.(463-465)Gca>Aca p.A155T COADREAD 22 43287010 43287010 + Silent SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr22:43287010C>T c.396G>A c.(394-396)aaG>aaA p.K132K COADREAD 22 43287079 43287079 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr22:43287079G>A c.327C>T c.(325-327)ttC>ttT p.F109F COADREAD 22 43287079 43287079 + Silent SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr22:43287079G>A c.327C>T c.(325-327)ttC>ttT p.F109F COADREAD 22 43287079 43287079 + Silent SNP G G A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr22:43287079G>A c.327C>T c.(325-327)ttC>ttT p.F109F COADREAD 22 43287100 43287100 + Silent SNP G G T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr22:43287100G>T c.306C>A c.(304-306)gcC>gcA p.A102A COADREAD 22 43289531 43289531 + Missense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr22:43289531C>T c.149G>A c.(148-150)cGc>cAc p.R50H ESCA 22 43287045 43287045 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr22:43287045G>T c.361C>A c.(361-363)Cac>Aac p.H121N HNSC 22 43272156 43272156 + Silent SNP C C T TCGA-CV-A463-01A-11D-A25Y-08 TCGA-CV-A463-10A-01D-A25Y-08 g.chr22:43272156C>T c.1335G>A c.(1333-1335)ctG>ctA p.L445L HNSC 22 43272287 43272287 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr22:43272287C>G c.1204G>C c.(1204-1206)Gag>Cag p.E402Q HNSC 22 43272940 43272940 + Missense_Mutation SNP C C T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 g.chr22:43272940C>T c.1105G>A c.(1105-1107)Gac>Aac p.D369N HNSC 22 43275154 43275154 + Nonsense_Mutation SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 g.chr22:43275154G>A c.928C>T c.(928-930)Cga>Tga p.R310* HNSC 22 43275168 43275168 + Missense_Mutation SNP G G A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr22:43275168G>A c.914C>T c.(913-915)tCc>tTc p.S305F HNSC 22 43287098 43287098 + Nonsense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr22:43287098G>T c.308C>A c.(307-309)tCa>tAa p.S103* HNSC 22 43308053 43308053 + Nonsense_Mutation SNP C C A TCGA-DQ-5624-01A-01D-1870-08 TCGA-DQ-5624-10A-01D-1870-08 g.chr22:43308053C>A c.34G>T c.(34-36)Gaa>Taa p.E12* KIPAN 22 43287181 43287181 + Missense_Mutation SNP C C G TCGA-B2-5633-01A-01D-1534-10 TCGA-B2-5633-10A-01D-1535-10 g.chr22:43287181C>G c.225G>C c.(223-225)caG>caC p.Q75H KIRC 22 43287181 43287181 + Missense_Mutation SNP C C G TCGA-B2-5633-01A-01D-1534-10 TCGA-B2-5633-10A-01D-1535-10 g.chr22:43287181C>G c.225G>C c.(223-225)caG>caC p.Q75H LIHC 22 43284655 43284655 + Silent SNP A A C TCGA-DD-A3A1-01A-11D-A20W-10 TCGA-DD-A3A1-11A-11D-A20W-10 g.chr22:43284655A>C c.603T>G c.(601-603)gtT>gtG p.V201V LIHC 22 43308052 43308052 + Missense_Mutation SNP T T C TCGA-G3-A3CG-01A-11D-A20W-10 TCGA-G3-A3CG-10A-01D-A20W-10 g.chr22:43308052T>C c.35A>G c.(34-36)gAa>gGa p.E12G LUAD 22 43272321 43272321 + Silent SNP C C T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 g.chr22:43272321C>T c.1170G>A c.(1168-1170)aaG>aaA p.K390K LUAD 22 43272936 43272936 + Missense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 g.chr22:43272936G>A c.1109C>T c.(1108-1110)aCg>aTg p.T370M LUAD 22 43284730 43284730 + Silent SNP G G A TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr22:43284730G>A c.528C>T c.(526-528)agC>agT p.S176S LUAD 22 43287087 43287087 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 g.chr22:43287087C>T c.319G>A c.(319-321)Gat>Aat p.D107N LUAD 22 43289489 43289489 + Missense_Mutation SNP C C T TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 g.chr22:43289489C>T c.191G>A c.(190-192)cGg>cAg p.R64Q LUSC 22 43280505 43280505 + Silent SNP C C T TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 g.chr22:43280505C>T c.672G>A c.(670-672)gaG>gaA p.E224E LUSC 22 43308058 43308058 + Missense_Mutation SNP C C T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 g.chr22:43308058C>T c.29G>A c.(28-30)gGa>gAa p.G10E PAAD 22 43272926 43272926 + Silent SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 g.chr22:43272926G>A c.1119C>T c.(1117-1119)acC>acT p.T373T PRAD 22 43267420 43267420 + Silent SNP G G A TCGA-G9-6348-01A-11D-1786-08 TCGA-G9-6348-10A-01D-1786-08 g.chr22:43267420G>A c.1404C>T c.(1402-1404)cgC>cgT p.R468R PRAD 22 43289513 43289513 + Missense_Mutation SNP G G A TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 g.chr22:43289513G>A c.167C>T c.(166-168)gCg>gTg p.A56V READ 22 43287079 43287079 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr22:43287079G>A c.327C>T c.(325-327)ttC>ttT p.F109F SKCM 22 43272197 43272197 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr22:43272197G>A c.1294C>T c.(1294-1296)Cgg>Tgg p.R432W SKCM 22 43272198 43272198 + Silent SNP G G T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr22:43272198G>T c.1293C>A c.(1291-1293)gtC>gtA p.V431V SKCM 22 43272327 43272327 + Silent SNP G G A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 g.chr22:43272327G>A c.1164C>T c.(1162-1164)taC>taT p.Y388Y SKCM 22 43280453 43280453 + Missense_Mutation SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr22:43280453G>A c.724C>T c.(724-726)Cgc>Tgc p.R242C SKCM 22 43287005 43287005 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 g.chr22:43287005G>A c.401C>T c.(400-402)gCt>gTt p.A134V SKCM 22 43287041 43287041 + Missense_Mutation SNP T T C TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr22:43287041T>C c.365A>G c.(364-366)aAg>aGg p.K122R

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 22 43236981 43236981 single base substitution C T 3_prime_UTR_variant BLCA-US 22 43230283 43230283 single base substitution C A downstream_gene_variant BOCA-FR 22 43261982 43261982 single base substitution T C downstream_gene_variant BOCA-FR 22 43261982 43261982 single base substitution T C intron_variant BRCA-EU 22 43226772 43226772 insertion of <=200bp - T downstream_gene_variant BRCA-EU 22 43229141 43229141 single base substitution C T downstream_gene_variant BRCA-EU 22 43231280 43231280 single base substitution G A downstream_gene_variant BRCA-EU 22 43232292 43232292 insertion of <=200bp - T intron_variant BRCA-EU 22 43232935 43232935 single base substitution G A intron_variant BRCA-EU 22 43234984 43234984 single base substitution C T intron_variant BRCA-EU 22 43235409 43235409 single base substitution A T intron_variant BRCA-EU 22 43236195 43236195 single base substitution C T intron_variant BRCA-EU 22 43237402 43237402 single base substitution G A intron_variant BRCA-EU 22 43239498 43239498 single base substitution C G intron_variant BRCA-EU 22 43240416 43240416 single base substitution C A intron_variant BRCA-EU 22 43241269 43241269 single base substitution C T intron_variant BRCA-EU 22 43245698 43245698 single base substitution C T intron_variant BRCA-EU 22 43246270 43246270 deletion of <=200bp A - intron_variant BRCA-EU 22 43246510 43246510 single base substitution C T intron_variant BRCA-EU 22 43247069 43247069 single base substitution C T intron_variant BRCA-EU 22 43247315 43247315 single base substitution G A intron_variant BRCA-EU 22 43247338 43247338 single base substitution C T intron_variant BRCA-EU 22 43247439 43247439 single base substitution G A intron_variant BRCA-EU 22 43247650 43247650 single base substitution T G intron_variant BRCA-EU 22 43248800 43248800 single base substitution G C intron_variant BRCA-EU 22 43249537 43249537 insertion of <=200bp - G intron_variant BRCA-EU 22 43249575 43249575 single base substitution T C intron_variant BRCA-EU 22 43250444 43250444 single base substitution A C intron_variant BRCA-EU 22 43251955 43251955 insertion of <=200bp - A intron_variant BRCA-EU 22 43253483 43253483 single base substitution G C intron_variant BRCA-EU 22 43254493 43254493 single base substitution C T exon_variant BRCA-EU 22 43255214 43255214 single base substitution G T intron_variant BRCA-EU 22 43257362 43257362 single base substitution C T intron_variant BRCA-EU 22 43258605 43258605 single base substitution G A intron_variant BRCA-EU 22 43260276 43260276 single base substitution C A intron_variant BRCA-EU 22 43262866 43262866 single base substitution T C downstream_gene_variant BRCA-EU 22 43262866 43262866 single base substitution T C intron_variant BRCA-EU 22 43265912 43265912 single base substitution C G 3_prime_UTR_variant BRCA-EU 22 43265912 43265912 single base substitution C G downstream_gene_variant BRCA-EU 22 43265912 43265912 single base substitution C G intron_variant BRCA-EU 22 43266163 43266163 single base substitution A T 3_prime_UTR_variant BRCA-EU 22 43266163 43266163 single base substitution A T downstream_gene_variant BRCA-EU 22 43266163 43266163 single base substitution A T intron_variant BRCA-EU 22 43267497 43267497 single base substitution G A intron_variant BRCA-EU 22 43269145 43269145 single base substitution C G intron_variant BRCA-EU 22 43270354 43270354 single base substitution C G intron_variant BRCA-EU 22 43271500 43271500 single base substitution C G intron_variant BRCA-EU 22 43271667 43271667 single base substitution G C intron_variant BRCA-EU 22 43272326 43272326 single base substitution C T missense_variant E348K 1042G>A BRCA-EU 22 43272326 43272326 single base substitution C T missense_variant E389K 1165G>A BRCA-EU 22 43272326 43272326 single base substitution C T upstream_gene_variant BRCA-EU 22 43273565 43273565 single base substitution C T intron_variant BRCA-EU 22 43273565 43273565 single base substitution C T upstream_gene_variant BRCA-EU 22 43275712 43275712 single base substitution G C intron_variant BRCA-EU 22 43275712 43275712 single base substitution G C upstream_gene_variant BRCA-EU 22 43276611 43276611 single base substitution G A intron_variant BRCA-EU 22 43276611 43276611 single base substitution G A upstream_gene_variant BRCA-EU 22 43277441 43277441 single base substitution C T intron_variant BRCA-EU 22 43278015 43278015 deletion of <=200bp C - intron_variant BRCA-EU 22 43280383 43280383 single base substitution G T intron_variant BRCA-EU 22 43280600 43280600 single base substitution C A intron_variant BRCA-EU 22 43280991 43280991 single base substitution G A intron_variant BRCA-EU 22 43281422 43281422 single base substitution C A intron_variant BRCA-EU 22 43284043 43284043 single base substitution C A downstream_gene_variant BRCA-EU 22 43284043 43284043 single base substitution C A intron_variant BRCA-EU 22 43284991 43284991 single base substitution T A downstream_gene_variant BRCA-EU 22 43284991 43284991 single base substitution T A intron_variant BRCA-EU 22 43285646 43285646 single base substitution G A downstream_gene_variant BRCA-EU 22 43285646 43285646 single base substitution G A intron_variant BRCA-EU 22 43285926 43285926 deletion of <=200bp A - downstream_gene_variant BRCA-EU 22 43285926 43285926 deletion of <=200bp A - intron_variant BRCA-EU 22 43285926 43285926 insertion of <=200bp - A downstream_gene_variant BRCA-EU 22 43285926 43285926 insertion of <=200bp - A intron_variant BRCA-EU 22 43287497 43287497 single base substitution C G downstream_gene_variant BRCA-EU 22 43287497 43287497 single base substitution C G intron_variant BRCA-EU 22 43288425 43288425 single base substitution G C downstream_gene_variant BRCA-EU 22 43288425 43288425 single base substitution G C intron_variant BRCA-EU 22 43288815 43288815 single base substitution G A downstream_gene_variant BRCA-EU 22 43288815 43288815 single base substitution G A intron_variant BRCA-EU 22 43289790 43289790 single base substitution C T intron_variant BRCA-EU 22 43290081 43290081 single base substitution C T intron_variant BRCA-EU 22 43291373 43291373 single base substitution C G intron_variant BRCA-EU 22 43291836 43291836 single base substitution C T intron_variant BRCA-EU 22 43293142 43293142 single base substitution C T intron_variant BRCA-EU 22 43293954 43293954 single base substitution T C intron_variant BRCA-EU 22 43295710 43295710 single base substitution G C intron_variant BRCA-EU 22 43295774 43295774 single base substitution C T intron_variant BRCA-EU 22 43296004 43296004 single base substitution C T intron_variant BRCA-EU 22 43296180 43296180 single base substitution A T intron_variant BRCA-EU 22 43297681 43297681 single base substitution G A intron_variant BRCA-EU 22 43298986 43298986 single base substitution C A intron_variant BRCA-EU 22 43299417 43299417 single base substitution G A intron_variant BRCA-EU 22 43299760 43299760 single base substitution G C intron_variant BRCA-EU 22 43300363 43300363 single base substitution C T intron_variant BRCA-EU 22 43300918 43300918 single base substitution C G intron_variant BRCA-EU 22 43302562 43302562 insertion of <=200bp - GAAA intron_variant BRCA-EU 22 43303756 43303756 single base substitution G C intron_variant BRCA-EU 22 43305640 43305640 single base substitution G A intron_variant BRCA-EU 22 43306415 43306415 deletion of <=200bp C - intron_variant BRCA-EU 22 43306601 43306601 single base substitution C T intron_variant BRCA-EU 22 43306915 43306915 single base substitution A T intron_variant BRCA-EU 22 43309603 43309603 single base substitution G A intron_variant BRCA-EU 22 43310762 43310764 deletion of <=200bp CTG - intron_variant BRCA-EU 22 43310833 43310833 single base substitution T C intron_variant BRCA-EU 22 43311835 43311835 single base substitution T A intron_variant BRCA-EU 22 43311836 43311836 single base substitution C G intron_variant BRCA-EU 22 43312155 43312155 single base substitution G A intron_variant BRCA-EU 22 43313888 43313888 single base substitution C A intron_variant BRCA-EU 22 43314220 43314220 single base substitution T C intron_variant BRCA-EU 22 43314840 43314840 deletion of <=200bp T - intron_variant BRCA-EU 22 43315574 43315574 insertion of <=200bp - T intron_variant BRCA-EU 22 43318225 43318225 single base substitution T A intron_variant BRCA-EU 22 43319550 43319550 single base substitution C T intron_variant BRCA-EU 22 43319633 43319633 single base substitution C A intron_variant BRCA-EU 22 43321661 43321661 single base substitution G C intron_variant BRCA-EU 22 43322836 43322836 single base substitution G C intron_variant BRCA-EU 22 43323783 43323783 single base substitution G A intron_variant BRCA-EU 22 43325494 43325494 single base substitution T A intron_variant BRCA-EU 22 43325857 43325857 single base substitution C G intron_variant BRCA-EU 22 43327294 43327294 single base substitution C A intron_variant BRCA-EU 22 43327414 43327414 single base substitution C A intron_variant BRCA-EU 22 43328715 43328715 single base substitution G A intron_variant BRCA-EU 22 43329372 43329372 single base substitution C G intron_variant BRCA-EU 22 43329697 43329697 single base substitution C T intron_variant BRCA-EU 22 43331329 43331329 single base substitution G A intron_variant BRCA-EU 22 43334540 43334540 single base substitution C A intron_variant BRCA-EU 22 43334906 43334906 single base substitution C G intron_variant BRCA-EU 22 43335464 43335464 single base substitution G T intron_variant BRCA-EU 22 43335641 43335641 single base substitution G A intron_variant BRCA-EU 22 43335682 43335682 single base substitution C G intron_variant BRCA-EU 22 43335911 43335911 single base substitution G C intron_variant BRCA-EU 22 43336050 43336050 single base substitution G C intron_variant BRCA-EU 22 43338245 43338245 single base substitution C G intron_variant BRCA-EU 22 43342407 43342407 single base substitution C T intron_variant BRCA-EU 22 43342407 43342407 single base substitution C T upstream_gene_variant BRCA-EU 22 43343425 43343425 single base substitution A T intron_variant BRCA-EU 22 43343425 43343425 single base substitution A T upstream_gene_variant BRCA-EU 22 43343694 43343694 single base substitution C G intron_variant BRCA-EU 22 43343694 43343694 single base substitution C G upstream_gene_variant BRCA-EU 22 43344255 43344255 single base substitution G A intron_variant BRCA-EU 22 43344255 43344255 single base substitution G A upstream_gene_variant BRCA-EU 22 43344875 43344875 deletion of <=200bp A - intron_variant BRCA-EU 22 43344875 43344875 deletion of <=200bp A - upstream_gene_variant BRCA-EU 22 43345110 43345110 single base substitution G A intron_variant BRCA-EU 22 43345110 43345110 single base substitution G A upstream_gene_variant BRCA-EU 22 43345929 43345929 single base substitution C T intron_variant BRCA-EU 22 43345929 43345929 single base substitution C T upstream_gene_variant BRCA-EU 22 43348878 43348878 single base substitution G C intron_variant BRCA-EU 22 43350490 43350490 single base substitution C A intron_variant BRCA-EU 22 43350876 43350876 single base substitution T C intron_variant BRCA-EU 22 43351426 43351426 single base substitution C G intron_variant BRCA-EU 22 43351752 43351752 single base substitution G A intron_variant BRCA-EU 22 43352308 43352308 single base substitution A G intron_variant BRCA-EU 22 43356254 43356254 single base substitution G C intron_variant BRCA-EU 22 43356254 43356254 single base substitution G C upstream_gene_variant BRCA-EU 22 43356943 43356943 single base substitution G A intron_variant BRCA-EU 22 43356943 43356943 single base substitution G A upstream_gene_variant BRCA-EU 22 43358103 43358103 single base substitution C G intron_variant BRCA-EU 22 43358103 43358103 single base substitution C G upstream_gene_variant BRCA-EU 22 43360895 43360895 single base substitution C A intron_variant BRCA-EU 22 43360895 43360895 single base substitution C A upstream_gene_variant BRCA-EU 22 43360934 43360934 single base substitution C A intron_variant BRCA-EU 22 43361117 43361117 single base substitution G C intron_variant BRCA-EU 22 43362929 43362929 deletion of <=200bp T - intron_variant BRCA-EU 22 43363617 43363617 single base substitution G C intron_variant BRCA-EU 22 43364333 43364333 single base substitution G A intron_variant BRCA-EU 22 43368914 43368914 single base substitution C G intron_variant BRCA-EU 22 43370469 43370469 single base substitution G C intron_variant BRCA-EU 22 43371628 43371628 deletion of <=200bp C - intron_variant BRCA-EU 22 43372281 43372281 single base substitution T A intron_variant BRCA-EU 22 43373248 43373248 single base substitution A T intron_variant BRCA-EU 22 43373292 43373292 single base substitution C T intron_variant BRCA-EU 22 43373313 43373313 single base substitution C T intron_variant BRCA-EU 22 43373600 43373600 single base substitution A T intron_variant BRCA-EU 22 43374439 43374439 single base substitution A G intron_variant BRCA-EU 22 43375811 43375811 single base substitution G A intron_variant BRCA-EU 22 43378151 43378151 single base substitution G A intron_variant BRCA-EU 22 43379360 43379360 single base substitution G C intron_variant BRCA-EU 22 43381159 43381159 single base substitution C A intron_variant BRCA-EU 22 43386872 43386872 single base substitution A G intron_variant BRCA-EU 22 43387079 43387079 single base substitution T G intron_variant BRCA-EU 22 43388608 43388608 single base substitution G C intron_variant BRCA-EU 22 43389297 43389297 single base substitution G A intron_variant BRCA-EU 22 43389566 43389566 single base substitution G C intron_variant BRCA-EU 22 43390795 43390795 single base substitution G T intron_variant BRCA-EU 22 43391034 43391034 single base substitution C T intron_variant BRCA-EU 22 43391363 43391363 single base substitution G C intron_variant BRCA-EU 22 43391449 43391449 single base substitution C A intron_variant BRCA-EU 22 43391913 43391913 single base substitution C T intron_variant BRCA-EU 22 43392303 43392303 single base substitution G C intron_variant BRCA-EU 22 43393408 43393408 single base substitution G C intron_variant BRCA-EU 22 43393455 43393455 single base substitution C G intron_variant BRCA-EU 22 43393698 43393698 single base substitution A G intron_variant BRCA-EU 22 43397832 43397832 single base substitution G A intron_variant BRCA-EU 22 43398621 43398621 single base substitution A G intron_variant BRCA-EU 22 43398621 43398621 single base substitution A G upstream_gene_variant BRCA-EU 22 43398863 43398863 single base substitution T G intron_variant BRCA-EU 22 43398863 43398863 single base substitution T G upstream_gene_variant BRCA-EU 22 43398876 43398876 single base substitution G T intron_variant BRCA-EU 22 43398876 43398876 single base substitution G T upstream_gene_variant BRCA-EU 22 43399808 43399808 single base substitution T C intron_variant BRCA-EU 22 43399808 43399808 single base substitution T C upstream_gene_variant BRCA-EU 22 43400762 43400762 single base substitution C T intron_variant BRCA-EU 22 43400762 43400762 single base substitution C T upstream_gene_variant BRCA-EU 22 43400885 43400885 single base substitution C T intron_variant BRCA-EU 22 43400885 43400885 single base substitution C T upstream_gene_variant BRCA-EU 22 43401871 43401871 single base substitution T A intron_variant BRCA-EU 22 43401871 43401871 single base substitution T A upstream_gene_variant BRCA-EU 22 43402185 43402185 single base substitution G A intron_variant BRCA-EU 22 43402185 43402185 single base substitution G A upstream_gene_variant BRCA-EU 22 43402197 43402197 single base substitution T A intron_variant BRCA-EU 22 43402197 43402197 single base substitution T A upstream_gene_variant BRCA-EU 22 43402897 43402897 single base substitution G C intron_variant BRCA-EU 22 43402897 43402897 single base substitution G C upstream_gene_variant BRCA-EU 22 43403002 43403002 single base substitution G A intron_variant BRCA-EU 22 43403002 43403002 single base substitution G A upstream_gene_variant BRCA-EU 22 43404794 43404794 single base substitution C A intron_variant BRCA-EU 22 43404975 43404975 single base substitution G A intron_variant BRCA-EU 22 43405309 43405309 single base substitution G C intron_variant BRCA-EU 22 43405702 43405702 single base substitution A C intron_variant BRCA-EU 22 43408012 43408012 single base substitution G A intron_variant BRCA-EU 22 43409074 43409074 single base substitution A C intron_variant BRCA-EU 22 43409087 43409087 single base substitution C G intron_variant BRCA-EU 22 43409124 43409124 single base substitution C A intron_variant BRCA-EU 22 43411303 43411303 single base substitution G C upstream_gene_variant BRCA-FR 22 43236195 43236195 single base substitution C T intron_variant BRCA-FR 22 43246510 43246510 single base substitution C T intron_variant BRCA-FR 22 43247069 43247069 single base substitution C T intron_variant BRCA-FR 22 43251868 43251868 single base substitution T A intron_variant BRCA-FR 22 43255214 43255214 single base substitution G T intron_variant BRCA-FR 22 43266839 43266839 single base substitution T C 3_prime_UTR_variant BRCA-FR 22 43266839 43266839 single base substitution T C downstream_gene_variant BRCA-FR 22 43266839 43266839 single base substitution T C intron_variant BRCA-FR 22 43271219 43271219 single base substitution G A intron_variant BRCA-FR 22 43271500 43271500 single base substitution C G intron_variant BRCA-FR 22 43278603 43278603 single base substitution C A intron_variant BRCA-FR 22 43280767 43280767 single base substitution T C intron_variant BRCA-FR 22 43282336 43282336 single base substitution C T downstream_gene_variant BRCA-FR 22 43282336 43282336 single base substitution C T intron_variant BRCA-FR 22 43284043 43284043 single base substitution C A downstream_gene_variant BRCA-FR 22 43284043 43284043 single base substitution C A intron_variant BRCA-FR 22 43296180 43296180 single base substitution A T intron_variant BRCA-FR 22 43298171 43298171 single base substitution G C intron_variant BRCA-FR 22 43298986 43298986 single base substitution C A intron_variant BRCA-FR 22 43299417 43299417 single base substitution G A intron_variant BRCA-FR 22 43299760 43299760 single base substitution G C intron_variant BRCA-FR 22 43306601 43306601 single base substitution C T intron_variant BRCA-FR 22 43312155 43312155 single base substitution G A intron_variant BRCA-FR 22 43321661 43321661 single base substitution G C intron_variant BRCA-FR 22 43322836 43322836 single base substitution G C intron_variant BRCA-FR 22 43324258 43324258 single base substitution G A intron_variant BRCA-FR 22 43337716 43337716 single base substitution G C intron_variant BRCA-FR 22 43343425 43343425 single base substitution A T intron_variant BRCA-FR 22 43343425 43343425 single base substitution A T upstream_gene_variant BRCA-FR 22 43343694 43343694 single base substitution C G intron_variant BRCA-FR 22 43343694 43343694 single base substitution C G upstream_gene_variant BRCA-FR 22 43344255 43344255 single base substitution G A intron_variant BRCA-FR 22 43344255 43344255 single base substitution G A upstream_gene_variant BRCA-FR 22 43350100 43350100 single base substitution C G intron_variant BRCA-FR 22 43356943 43356943 single base substitution G A intron_variant BRCA-FR 22 43356943 43356943 single base substitution G A upstream_gene_variant BRCA-FR 22 43361117 43361117 single base substitution G C intron_variant BRCA-FR 22 43361328 43361328 single base substitution G A intron_variant BRCA-FR 22 43361329 43361329 single base substitution G A intron_variant BRCA-FR 22 43362737 43362737 single base substitution C G intron_variant BRCA-FR 22 43364333 43364333 single base substitution G A intron_variant BRCA-FR 22 43390795 43390795 single base substitution G T intron_variant BRCA-FR 22 43405702 43405702 single base substitution A C intron_variant BRCA-UK 22 43247650 43247650 single base substitution T G intron_variant BRCA-UK 22 43388936 43388936 single base substitution G A intron_variant BRCA-US 22 43227644 43227644 single base substitution T G downstream_gene_variant BRCA-US 22 43267475 43267475 single base substitution C G intron_variant BRCA-US 22 43267475 43267475 single base substitution C G missense_variant G409A 1226G>C BRCA-US 22 43267475 43267475 single base substitution C G missense_variant G450A 1349G>C BRCA-US 22 43287091 43287091 single base substitution C G downstream_gene_variant BRCA-US 22 43287091 43287091 single base substitution C G missense_variant M105I 315G>C BRCA-US 22 43287157 43287157 single base substitution C G downstream_gene_variant BRCA-US 22 43287157 43287157 single base substitution C G missense_variant W83C 249G>C BTCA-JP 22 43243642 43243642 insertion of <=200bp - A intron_variant BTCA-JP 22 43254524 43254524 single base substitution C T exon_variant BTCA-JP 22 43305643 43305643 single base substitution A T intron_variant BTCA-JP 22 43414626 43414626 single base substitution C G upstream_gene_variant CESC-US 22 43289475 43289475 single base substitution G T 3_prime_UTR_variant CESC-US 22 43289475 43289475 single base substitution G T downstream_gene_variant CESC-US 22 43289475 43289475 single base substitution G T missense_variant L69I 205C>A CLLE-ES 22 43249564 43249564 single base substitution G A intron_variant CLLE-ES 22 43265404 43265404 single base substitution G C downstream_gene_variant CLLE-ES 22 43265404 43265404 single base substitution G C intron_variant CLLE-ES 22 43315422 43315422 single base substitution G A intron_variant CLLE-ES 22 43331260 43331260 single base substitution A G intron_variant CLLE-ES 22 43357544 43357544 single base substitution G A intron_variant CLLE-ES 22 43357544 43357544 single base substitution G A upstream_gene_variant CLLE-ES 22 43359628 43359628 single base substitution T C intron_variant CLLE-ES 22 43359628 43359628 single base substitution T C upstream_gene_variant CLLE-ES 22 43363620 43363620 single base substitution C T intron_variant CLLE-ES 22 43379339 43379339 single base substitution A G intron_variant CLLE-ES 22 43395635 43395635 single base substitution T C intron_variant CLLE-ES 22 43400987 43400987 single base substitution T C intron_variant CLLE-ES 22 43400987 43400987 single base substitution T C upstream_gene_variant CLLE-ES 22 43401962 43401962 single base substitution T C intron_variant CLLE-ES 22 43401962 43401962 single base substitution T C upstream_gene_variant COAD-US 22 43231405 43231405 single base substitution G A downstream_gene_variant COAD-US 22 43267390 43267390 single base substitution C T intron_variant COAD-US 22 43267390 43267390 single base substitution C T synonymous_variant P437P 1311G>A COAD-US 22 43267390 43267390 single base substitution C T synonymous_variant P478P 1434G>A COAD-US 22 43267432 43267432 single base substitution C T intron_variant COAD-US 22 43267432 43267432 single base substitution C T stop_gained W423* 1269G>A COAD-US 22 43267432 43267432 single base substitution C T stop_gained W464* 1392G>A COAD-US 22 43272243 43272243 single base substitution C T synonymous_variant S375S 1125G>A COAD-US 22 43272243 43272243 single base substitution C T synonymous_variant S416S 1248G>A COAD-US 22 43272243 43272243 single base substitution C T upstream_gene_variant COAD-US 22 43278220 43278220 single base substitution C T synonymous_variant P292P 876G>A COAD-US 22 43284694 43284694 single base substitution C A downstream_gene_variant COAD-US 22 43284694 43284694 single base substitution C A missense_variant K188N 564G>T COAD-US 22 43287010 43287010 single base substitution C T downstream_gene_variant COAD-US 22 43287010 43287010 single base substitution C T synonymous_variant K132K 396G>A COAD-US 22 43287079 43287079 single base substitution G A downstream_gene_variant COAD-US 22 43287079 43287079 single base substitution G A synonymous_variant F109F 327C>T COAD-US 22 43287100 43287100 single base substitution G T downstream_gene_variant COAD-US 22 43287100 43287100 single base substitution G T synonymous_variant A102A 306C>A COAD-US 22 43289473 43289473 single base substitution G A 3_prime_UTR_variant COAD-US 22 43289473 43289473 single base substitution G A downstream_gene_variant COAD-US 22 43289473 43289473 single base substitution G A synonymous_variant L69L 207C>T COCA-CN 22 43231384 43231384 single base substitution C T downstream_gene_variant COCA-CN 22 43231497 43231497 single base substitution A C splice_region_variant COCA-CN 22 43237033 43237033 single base substitution A C intron_variant COCA-CN 22 43243487 43243487 single base substitution C A intron_variant COCA-CN 22 43253087 43253087 single base substitution C T intron_variant COCA-CN 22 43254467 43254467 single base substitution G A exon_variant COCA-CN 22 43272326 43272326 single base substitution C T missense_variant E348K 1042G>A COCA-CN 22 43272326 43272326 single base substitution C T missense_variant E389K 1165G>A COCA-CN 22 43272326 43272326 single base substitution C T upstream_gene_variant COCA-CN 22 43287123 43287123 single base substitution C T downstream_gene_variant COCA-CN 22 43287123 43287123 single base substitution C T missense_variant E95K 283G>A COCA-CN 22 43317378 43317378 single base substitution G A intron_variant COCA-CN 22 43334236 43334236 single base substitution G C intron_variant EOPC-DE 22 43350247 43350247 single base substitution C T intron_variant ESAD-UK 22 43227643 43227643 single base substitution C T downstream_gene_variant ESAD-UK 22 43231782 43231782 single base substitution G A intron_variant ESAD-UK 22 43232542 43232542 single base substitution T C intron_variant ESAD-UK 22 43234550 43234550 single base substitution G A intron_variant ESAD-UK 22 43237444 43237444 single base substitution T A intron_variant ESAD-UK 22 43239773 43239773 single base substitution G A intron_variant ESAD-UK 22 43242627 43242627 single base substitution C T intron_variant ESAD-UK 22 43246967 43246967 single base substitution G A intron_variant ESAD-UK 22 43247596 43247596 single base substitution G A intron_variant ESAD-UK 22 43251308 43251308 deletion of <=200bp A - intron_variant ESAD-UK 22 43254106 43254106 single base substitution G T intron_variant ESAD-UK 22 43257391 43257391 single base substitution C T intron_variant ESAD-UK 22 43262724 43262724 single base substitution C T downstream_gene_variant ESAD-UK 22 43262724 43262724 single base substitution C T intron_variant ESAD-UK 22 43264751 43264751 insertion of <=200bp - G downstream_gene_variant ESAD-UK 22 43264751 43264751 insertion of <=200bp - G intron_variant ESAD-UK 22 43266257 43266257 single base substitution C T 3_prime_UTR_variant ESAD-UK 22 43266257 43266257 single base substitution C T downstream_gene_variant ESAD-UK 22 43266257 43266257 single base substitution C T intron_variant ESAD-UK 22 43269396 43269396 deletion of <=200bp A - intron_variant ESAD-UK 22 43272796 43272796 single base substitution G A intron_variant ESAD-UK 22 43272796 43272796 single base substitution G A upstream_gene_variant ESAD-UK 22 43273376 43273376 insertion of <=200bp - G intron_variant ESAD-UK 22 43273376 43273376 insertion of <=200bp - G upstream_gene_variant ESAD-UK 22 43275915 43275915 single base substitution G A intron_variant ESAD-UK 22 43275915 43275915 single base substitution G A upstream_gene_variant ESAD-UK 22 43276275 43276275 single base substitution G A intron_variant ESAD-UK 22 43276275 43276275 single base substitution G A upstream_gene_variant ESAD-UK 22 43282591 43282591 single base substitution C T downstream_gene_variant ESAD-UK 22 43282591 43282591 single base substitution C T intron_variant ESAD-UK 22 43290038 43290038 single base substitution T G intron_variant ESAD-UK 22 43290366 43290366 single base substitution C T intron_variant ESAD-UK 22 43291075 43291075 single base substitution C T intron_variant ESAD-UK 22 43293668 43293668 single base substitution G T intron_variant ESAD-UK 22 43295908 43295908 single base substitution C G intron_variant ESAD-UK 22 43298713 43298713 insertion of <=200bp - G intron_variant ESAD-UK 22 43300020 43300020 single base substitution C T intron_variant ESAD-UK 22 43300258 43300258 single base substitution G A intron_variant ESAD-UK 22 43303610 43303610 single base substitution G A intron_variant ESAD-UK 22 43304430 43304430 single base substitution G T intron_variant ESAD-UK 22 43307057 43307057 single base substitution C G intron_variant ESAD-UK 22 43311412 43311412 single base substitution T G intron_variant ESAD-UK 22 43312080 43312080 single base substitution C T intron_variant ESAD-UK 22 43313478 43313478 single base substitution A G intron_variant ESAD-UK 22 43320932 43320932 single base substitution T A intron_variant ESAD-UK 22 43321679 43321681 deletion of <=200bp AAT - intron_variant ESAD-UK 22 43322146 43322146 single base substitution G C intron_variant ESAD-UK 22 43325511 43325511 single base substitution G A intron_variant ESAD-UK 22 43327952 43327952 single base substitution G A intron_variant ESAD-UK 22 43329104 43329104 single base substitution T A intron_variant ESAD-UK 22 43330354 43330354 single base substitution G C intron_variant ESAD-UK 22 43330482 43330482 single base substitution C T intron_variant ESAD-UK 22 43332055 43332055 single base substitution T A intron_variant ESAD-UK 22 43332056 43332056 deletion of <=200bp A - intron_variant ESAD-UK 22 43333257 43333257 single base substitution C T intron_variant ESAD-UK 22 43337254 43337254 single base substitution A C intron_variant ESAD-UK 22 43340977 43340977 single base substitution C A intron_variant ESAD-UK 22 43342174 43342174 single base substitution G C intron_variant ESAD-UK 22 43342174 43342174 single base substitution G C upstream_gene_variant ESAD-UK 22 43344492 43344492 single base substitution G A intron_variant ESAD-UK 22 43344492 43344492 single base substitution G A upstream_gene_variant ESAD-UK 22 43345689 43345689 insertion of <=200bp - CA intron_variant ESAD-UK 22 43345689 43345689 insertion of <=200bp - CA upstream_gene_variant ESAD-UK 22 43346311 43346311 single base substitution G C intron_variant ESAD-UK 22 43346311 43346311 single base substitution G C upstream_gene_variant ESAD-UK 22 43346655 43346655 insertion of <=200bp - A intron_variant ESAD-UK 22 43346655 43346655 insertion of <=200bp - A upstream_gene_variant ESAD-UK 22 43350514 43350514 insertion of <=200bp - CCTTG intron_variant ESAD-UK 22 43350515 43350515 insertion of <=200bp - GC intron_variant ESAD-UK 22 43351307 43351307 single base substitution A G intron_variant ESAD-UK 22 43354250 43354250 single base substitution G A intron_variant ESAD-UK 22 43356459 43356459 single base substitution A G intron_variant ESAD-UK 22 43356459 43356459 single base substitution A G upstream_gene_variant ESAD-UK 22 43357978 43357978 single base substitution T G intron_variant ESAD-UK 22 43357978 43357978 single base substitution T G upstream_gene_variant ESAD-UK 22 43360108 43360108 single base substitution C T intron_variant ESAD-UK 22 43360108 43360108 single base substitution C T upstream_gene_variant ESAD-UK 22 43361523 43361523 single base substitution C T intron_variant ESAD-UK 22 43361960 43361963 deletion of <=200bp AATT - intron_variant ESAD-UK 22 43371442 43371442 single base substitution C T intron_variant ESAD-UK 22 43379554 43379554 insertion of <=200bp - A intron_variant ESAD-UK 22 43382287 43382287 single base substitution C T intron_variant ESAD-UK 22 43384068 43384068 single base substitution G A intron_variant ESAD-UK 22 43385226 43385226 single base substitution G A intron_variant ESAD-UK 22 43386068 43386068 single base substitution A T intron_variant ESAD-UK 22 43388891 43388891 single base substitution C T intron_variant ESAD-UK 22 43392234 43392234 insertion of <=200bp - T intron_variant ESAD-UK 22 43393897 43393897 single base substitution C G intron_variant ESAD-UK 22 43394760 43394760 single base substitution C T intron_variant ESAD-UK 22 43395603 43395603 single base substitution C T intron_variant ESAD-UK 22 43396104 43396104 single base substitution A G intron_variant ESAD-UK 22 43400154 43400154 single base substitution G C intron_variant ESAD-UK 22 43400154 43400154 single base substitution G C upstream_gene_variant ESAD-UK 22 43401488 43401488 single base substitution G A intron_variant ESAD-UK 22 43401488 43401488 single base substitution G A upstream_gene_variant ESAD-UK 22 43407507 43407507 single base substitution G A intron_variant ESAD-UK 22 43408689 43408689 single base substitution G C intron_variant ESAD-UK 22 43412178 43412178 single base substitution C G upstream_gene_variant ESAD-UK 22 43412808 43412808 single base substitution G A upstream_gene_variant ESAD-UK 22 43413055 43413055 single base substitution T C upstream_gene_variant ESAD-UK 22 43413192 43413192 single base substitution T G upstream_gene_variant ESAD-UK 22 43413375 43413375 single base substitution A T upstream_gene_variant ESAD-UK 22 43415911 43415911 single base substitution C A upstream_gene_variant ESCA-CN 22 43272953 43272953 single base substitution G A intron_variant ESCA-CN 22 43272953 43272953 single base substitution G A synonymous_variant F364F 1092C>T ESCA-CN 22 43272953 43272953 single base substitution G A upstream_gene_variant ESCA-CN 22 43272994 43272994 single base substitution G A intron_variant ESCA-CN 22 43272994 43272994 single base substitution G A missense_variant P351S 1051C>T ESCA-CN 22 43272994 43272994 single base substitution G A upstream_gene_variant ESCA-CN 22 43284714 43284714 single base substitution G A downstream_gene_variant ESCA-CN 22 43284714 43284714 single base substitution G A missense_variant L182F 544C>T ESCA-CN 22 43287028 43287028 single base substitution G A downstream_gene_variant ESCA-CN 22 43287028 43287028 single base substitution G A synonymous_variant G126G 378C>T ESCA-CN 22 43287131 43287131 single base substitution C T downstream_gene_variant ESCA-CN 22 43287131 43287131 single base substitution C T missense_variant R92K 275G>A KIRC-US 22 43287181 43287181 single base substitution C G downstream_gene_variant KIRC-US 22 43287181 43287181 single base substitution C G missense_variant Q75H 225G>C LAML-KR 22 43241667 43241667 single base substitution T C intron_variant LAML-KR 22 43286027 43286027 single base substitution G T downstream_gene_variant LAML-KR 22 43286027 43286027 single base substitution G T intron_variant LAML-KR 22 43377653 43377653 single base substitution T G intron_variant LAML-KR 22 43378274 43378274 single base substitution G A intron_variant LAML-KR 22 43378286 43378286 single base substitution G A intron_variant LAML-KR 22 43378740 43378740 single base substitution G T intron_variant LAML-KR 22 43393556 43393556 single base substitution C T intron_variant LAML-KR 22 43403026 43403026 single base substitution G C intron_variant LAML-KR 22 43403026 43403026 single base substitution G C upstream_gene_variant LAML-KR 22 43403027 43403027 single base substitution A T intron_variant LAML-KR 22 43403027 43403027 single base substitution A T upstream_gene_variant LAML-KR 22 43404275 43404275 single base substitution G T intron_variant LICA-CN 22 43286990 43286990 single base substitution C A downstream_gene_variant LICA-CN 22 43286990 43286990 single base substitution C A missense_variant R139L 416G>T LICA-CN 22 43287027 43287027 single base substitution C A downstream_gene_variant LICA-CN 22 43287027 43287027 single base substitution C A missense_variant G127C 379G>T LICA-FR 22 43233596 43233596 single base substitution A G intron_variant LICA-FR 22 43236595 43236595 single base substitution G T intron_variant LICA-FR 22 43236596 43236596 single base substitution T G intron_variant LICA-FR 22 43243030 43243030 single base substitution G C intron_variant LICA-FR 22 43245285 43245285 single base substitution T C intron_variant LICA-FR 22 43247463 43247463 insertion of <=200bp - G intron_variant LICA-FR 22 43273070 43273070 single base substitution G A intron_variant LICA-FR 22 43273070 43273070 single base substitution G A upstream_gene_variant LICA-FR 22 43292032 43292032 single base substitution A G intron_variant LICA-FR 22 43332222 43332222 insertion of <=200bp - A intron_variant LICA-FR 22 43356984 43356984 single base substitution G A intron_variant LICA-FR 22 43356984 43356984 single base substitution G A upstream_gene_variant LICA-FR 22 43358190 43358190 insertion of <=200bp - T intron_variant LICA-FR 22 43358190 43358190 insertion of <=200bp - T upstream_gene_variant LICA-FR 22 43359203 43359203 single base substitution C T intron_variant LICA-FR 22 43359203 43359203 single base substitution C T upstream_gene_variant LICA-FR 22 43382492 43382492 single base substitution T G intron_variant LICA-FR 22 43383331 43383331 single base substitution A T intron_variant LICA-FR 22 43383431 43383431 single base substitution A G intron_variant LICA-FR 22 43393284 43393284 single base substitution G A intron_variant LICA-FR 22 43393285 43393285 single base substitution C A intron_variant LIHC-US 22 43284655 43284655 single base substitution A C downstream_gene_variant LIHC-US 22 43284655 43284655 single base substitution A C synonymous_variant V201V 603T>G LINC-JP 22 43227612 43227612 single base substitution C T downstream_gene_variant LINC-JP 22 43228169 43228169 deletion of <=200bp A - downstream_gene_variant LINC-JP 22 43238641 43238641 single base substitution G A intron_variant LINC-JP 22 43240157 43240157 single base substitution T A intron_variant LINC-JP 22 43252507 43252507 deletion of <=200bp A - intron_variant LINC-JP 22 43253157 43253157 single base substitution G A intron_variant LINC-JP 22 43267496 43267496 single base substitution C T intron_variant LINC-JP 22 43270084 43270084 single base substitution T C intron_variant LINC-JP 22 43272187 43272191 deletion of <=200bp TACAG - exon_variant LINC-JP 22 43272187 43272191 deletion of <=200bp TACAG - frameshift_variant LY393 LINC-JP 22 43272187 43272191 deletion of <=200bp TACAG - frameshift_variant LY434 LINC-JP 22 43272759 43272759 single base substitution G T intron_variant LINC-JP 22 43272759 43272759 single base substitution G T upstream_gene_variant LINC-JP 22 43275244 43275244 insertion of <=200bp - GTTGAGG intron_variant LINC-JP 22 43275244 43275244 insertion of <=200bp - GTTGAGG upstream_gene_variant LINC-JP 22 43276915 43276915 single base substitution G C intron_variant LINC-JP 22 43276915 43276915 single base substitution G C upstream_gene_variant LINC-JP 22 43278694 43278694 single base substitution C T intron_variant LINC-JP 22 43285445 43285445 single base substitution T C downstream_gene_variant LINC-JP 22 43285445 43285445 single base substitution T C intron_variant LINC-JP 22 43296791 43296791 single base substitution T C intron_variant LINC-JP 22 43299647 43299647 single base substitution T G intron_variant LINC-JP 22 43305760 43305760 single base substitution C T intron_variant LINC-JP 22 43310235 43310235 single base substitution C T intron_variant LINC-JP 22 43310244 43310244 single base substitution T G intron_variant LINC-JP 22 43310247 43310247 single base substitution T A intron_variant LINC-JP 22 43311967 43311967 single base substitution G A intron_variant LINC-JP 22 43316976 43316976 single base substitution T C intron_variant LINC-JP 22 43326168 43326168 single base substitution G C intron_variant LINC-JP 22 43356818 43356818 single base substitution A G intron_variant LINC-JP 22 43356818 43356818 single base substitution A G upstream_gene_variant LINC-JP 22 43358203 43358203 single base substitution G T intron_variant LINC-JP 22 43358203 43358203 single base substitution G T upstream_gene_variant LINC-JP 22 43359909 43359909 deletion of <=200bp A - intron_variant LINC-JP 22 43359909 43359909 deletion of <=200bp A - upstream_gene_variant LINC-JP 22 43365042 43365042 single base substitution T C intron_variant LINC-JP 22 43368554 43368554 single base substitution G T intron_variant LINC-JP 22 43371461 43371461 single base substitution C T intron_variant LINC-JP 22 43371463 43371463 single base substitution A T intron_variant LINC-JP 22 43376085 43376085 single base substitution A G intron_variant LINC-JP 22 43385655 43385655 single base substitution T C intron_variant LINC-JP 22 43395219 43395219 single base substitution C T intron_variant LINC-JP 22 43410146 43410146 single base substitution T A intron_variant LIRI-JP 22 43226891 43226891 single base substitution T C downstream_gene_variant LIRI-JP 22 43226982 43226982 single base substitution T C downstream_gene_variant LIRI-JP 22 43228211 43228211 single base substitution T C downstream_gene_variant LIRI-JP 22 43229531 43229531 single base substitution G A downstream_gene_variant LIRI-JP 22 43229967 43229967 single base substitution T C downstream_gene_variant LIRI-JP 22 43231078 43231078 single base substitution T A downstream_gene_variant LIRI-JP 22 43231674 43231674 single base substitution A C intron_variant LIRI-JP 22 43232180 43232180 single base substitution G A intron_variant LIRI-JP 22 43236033 43236033 single base substitution C A intron_variant LIRI-JP 22 43236071 43236071 single base substitution G A intron_variant LIRI-JP 22 43236548 43236548 single base substitution G A intron_variant LIRI-JP 22 43238227 43238227 single base substitution T C intron_variant LIRI-JP 22 43242005 43242005 single base substitution T C intron_variant LIRI-JP 22 43242358 43242358 single base substitution G T intron_variant LIRI-JP 22 43242785 43242785 single base substitution C A intron_variant LIRI-JP 22 43243606 43243606 single base substitution G A intron_variant LIRI-JP 22 43243607 43243607 single base substitution C A intron_variant LIRI-JP 22 43245289 43245289 single base substitution T A intron_variant LIRI-JP 22 43245767 43245767 single base substitution A T intron_variant LIRI-JP 22 43246358 43246358 single base substitution G A intron_variant LIRI-JP 22 43247768 43247768 single base substitution T C intron_variant LIRI-JP 22 43249618 43249618 single base substitution G C intron_variant LIRI-JP 22 43249895 43249895 single base substitution T C intron_variant LIRI-JP 22 43250538 43250538 single base substitution A C intron_variant LIRI-JP 22 43250984 43250984 single base substitution C G intron_variant LIRI-JP 22 43254225 43254225 single base substitution A G intron_variant LIRI-JP 22 43254689 43254689 single base substitution C T intron_variant LIRI-JP 22 43255320 43255320 single base substitution A G intron_variant LIRI-JP 22 43261939 43261939 insertion of <=200bp - TCCTT downstream_gene_variant LIRI-JP 22 43261939 43261939 insertion of <=200bp - TCCTT intron_variant LIRI-JP 22 43262201 43262201 single base substitution C T downstream_gene_variant LIRI-JP 22 43262201 43262201 single base substitution C T intron_variant LIRI-JP 22 43266489 43266489 single base substitution T C 3_prime_UTR_variant LIRI-JP 22 43266489 43266489 single base substitution T C downstream_gene_variant LIRI-JP 22 43266489 43266489 single base substitution T C intron_variant LIRI-JP 22 43267497 43267497 single base substitution G C intron_variant LIRI-JP 22 43268844 43268844 single base substitution A T intron_variant LIRI-JP 22 43270290 43270290 single base substitution T A intron_variant LIRI-JP 22 43270918 43270918 single base substitution G A intron_variant LIRI-JP 22 43273868 43273868 single base substitution G A intron_variant LIRI-JP 22 43273868 43273868 single base substitution G A upstream_gene_variant LIRI-JP 22 43274503 43274503 single base substitution A T intron_variant LIRI-JP 22 43274503 43274503 single base substitution A T upstream_gene_variant LIRI-JP 22 43276022 43276022 single base substitution G A intron_variant LIRI-JP 22 43276022 43276022 single base substitution G A upstream_gene_variant LIRI-JP 22 43276420 43276420 single base substitution T C intron_variant LIRI-JP 22 43276420 43276420 single base substitution T C upstream_gene_variant LIRI-JP 22 43276736 43276736 single base substitution A C intron_variant LIRI-JP 22 43276736 43276736 single base substitution A C upstream_gene_variant LIRI-JP 22 43277670 43277670 single base substitution A T intron_variant LIRI-JP 22 43278356 43278356 insertion of <=200bp - G intron_variant LIRI-JP 22 43282461 43282461 single base substitution T G downstream_gene_variant LIRI-JP 22 43282461 43282461 single base substitution T G intron_variant LIRI-JP 22 43282469 43282469 single base substitution C T downstream_gene_variant LIRI-JP 22 43282469 43282469 single base substitution C T intron_variant LIRI-JP 22 43282470 43282470 single base substitution C G downstream_gene_variant LIRI-JP 22 43282470 43282470 single base substitution C G intron_variant LIRI-JP 22 43282475 43282478 deletion of <=200bp TACT - downstream_gene_variant LIRI-JP 22 43282475 43282478 deletion of <=200bp TACT - intron_variant LIRI-JP 22 43284425 43284425 single base substitution C A downstream_gene_variant LIRI-JP 22 43284425 43284425 single base substitution C A intron_variant LIRI-JP 22 43285608 43285608 single base substitution G A downstream_gene_variant LIRI-JP 22 43285608 43285608 single base substitution G A intron_variant LIRI-JP 22 43287601 43287601 single base substitution T C downstream_gene_variant LIRI-JP 22 43287601 43287601 single base substitution T C intron_variant LIRI-JP 22 43288087 43288087 insertion of <=200bp - A downstream_gene_variant LIRI-JP 22 43288087 43288087 insertion of <=200bp - A intron_variant LIRI-JP 22 43289112 43289112 single base substitution C A downstream_gene_variant LIRI-JP 22 43289112 43289112 single base substitution C A intron_variant LIRI-JP 22 43291915 43291915 single base substitution A C intron_variant LIRI-JP 22 43292520 43292520 single base substitution T C intron_variant LIRI-JP 22 43293337 43293337 single base substitution T A intron_variant LIRI-JP 22 43293781 43293781 single base substitution T C intron_variant LIRI-JP 22 43297127 43297127 single base substitution A G intron_variant LIRI-JP 22 43298538 43298538 single base substitution A G intron_variant LIRI-JP 22 43301956 43301956 single base substitution C A intron_variant LIRI-JP 22 43304187 43304187 single base substitution C T intron_variant LIRI-JP 22 43307343 43307343 single base substitution G T intron_variant LIRI-JP 22 43308124 43308124 single base substitution T C 5_prime_UTR_variant LIRI-JP 22 43308261 43308261 single base substitution T A intron_variant LIRI-JP 22 43309670 43309673 deletion of <=200bp TGCC - intron_variant LIRI-JP 22 43318480 43318480 single base substitution C A intron_variant LIRI-JP 22 43318936 43318936 single base substitution G A intron_variant LIRI-JP 22 43320230 43320230 single base substitution C A intron_variant LIRI-JP 22 43321221 43321221 single base substitution C A intron_variant LIRI-JP 22 43325564 43325564 single base substitution T A intron_variant LIRI-JP 22 43325840 43325840 single base substitution T C intron_variant LIRI-JP 22 43326443 43326443 single base substitution A G intron_variant LIRI-JP 22 43327212 43327212 single base substitution A G intron_variant LIRI-JP 22 43328900 43328900 single base substitution T C intron_variant LIRI-JP 22 43329376 43329376 insertion of <=200bp - C intron_variant LIRI-JP 22 43336063 43336065 deletion of <=200bp CAG - intron_variant LIRI-JP 22 43341119 43341119 single base substitution A G intron_variant LIRI-JP 22 43342609 43342609 single base substitution G C intron_variant LIRI-JP 22 43342609 43342609 single base substitution G C upstream_gene_variant LIRI-JP 22 43343825 43343825 single base substitution A T intron_variant LIRI-JP 22 43343825 43343825 single base substitution A T upstream_gene_variant LIRI-JP 22 43343924 43343935 deletion of <=200bp TGCCCCCACACT - intron_variant LIRI-JP 22 43343924 43343935 deletion of <=200bp TGCCCCCACACT - upstream_gene_variant LIRI-JP 22 43344298 43344298 single base substitution G C intron_variant LIRI-JP 22 43344298 43344298 single base substitution G C upstream_gene_variant LIRI-JP 22 43344417 43344417 single base substitution T C intron_variant LIRI-JP 22 43344417 43344417 single base substitution T C upstream_gene_variant LIRI-JP 22 43345380 43345393 deletion of <=200bp CTTACACACCCATT - intron_variant LIRI-JP 22 43345380 43345393 deletion of <=200bp CTTACACACCCATT - upstream_gene_variant LIRI-JP 22 43345464 43345464 single base substitution G A intron_variant LIRI-JP 22 43345464 43345464 single base substitution G A upstream_gene_variant LIRI-JP 22 43345884 43345884 single base substitution T A intron_variant LIRI-JP 22 43345884 43345884 single base substitution T A upstream_gene_variant LIRI-JP 22 43349676 43349676 single base substitution T C intron_variant LIRI-JP 22 43350852 43350852 single base substitution G T intron_variant LIRI-JP 22 43351395 43351395 single base substitution C G intron_variant LIRI-JP 22 43352209 43352209 single base substitution A G intron_variant LIRI-JP 22 43353707 43353707 single base substitution A G intron_variant LIRI-JP 22 43353870 43353870 single base substitution T C intron_variant LIRI-JP 22 43355500 43355500 single base substitution C T intron_variant LIRI-JP 22 43357045 43357045 single base substitution G A intron_variant LIRI-JP 22 43357045 43357045 single base substitution G A upstream_gene_variant LIRI-JP 22 43357359 43357359 single base substitution T G intron_variant LIRI-JP 22 43357359 43357359 single base substitution T G upstream_gene_variant LIRI-JP 22 43361525 43361525 single base substitution A T intron_variant LIRI-JP 22 43361852 43361852 insertion of <=200bp - A intron_variant LIRI-JP 22 43362492 43362492 single base substitution T C intron_variant LIRI-JP 22 43365699 43365699 single base substitution C A intron_variant LIRI-JP 22 43366810 43366810 single base substitution T C intron_variant LIRI-JP 22 43368657 43368657 single base substitution A G intron_variant LIRI-JP 22 43368729 43368729 single base substitution C G intron_variant LIRI-JP 22 43368883 43368883 single base substitution T C intron_variant LIRI-JP 22 43371175 43371175 single base substitution A C intron_variant LIRI-JP 22 43374843 43374843 single base substitution C T intron_variant LIRI-JP 22 43378583 43378583 single base substitution C T intron_variant LIRI-JP 22 43386397 43386397 single base substitution C T intron_variant LIRI-JP 22 43388904 43388904 single base substitution T A intron_variant LIRI-JP 22 43389819 43389819 single base substitution G A intron_variant LIRI-JP 22 43389902 43389902 single base substitution C T intron_variant LIRI-JP 22 43390549 43390549 single base substitution A T intron_variant LIRI-JP 22 43391036 43391036 single base substitution G A intron_variant LIRI-JP 22 43391197 43391197 single base substitution G A intron_variant LIRI-JP 22 43391295 43391295 single base substitution G C intron_variant LIRI-JP 22 43391363 43391363 single base substitution G C intron_variant LIRI-JP 22 43391710 43391710 single base substitution C A intron_variant LIRI-JP 22 43392910 43392910 single base substitution A G intron_variant LIRI-JP 22 43396851 43396851 single base substitution C A intron_variant LIRI-JP 22 43400046 43400046 single base substitution T G intron_variant LIRI-JP 22 43400046 43400046 single base substitution T G upstream_gene_variant LIRI-JP 22 43400812 43400812 deletion of <=200bp C - intron_variant LIRI-JP 22 43400812 43400812 deletion of <=200bp C - upstream_gene_variant LIRI-JP 22 43400866 43400866 single base substitution C A intron_variant LIRI-JP 22 43400866 43400866 single base substitution C A upstream_gene_variant LIRI-JP 22 43402408 43402408 single base substitution A G intron_variant LIRI-JP 22 43402408 43402408 single base substitution A G upstream_gene_variant LIRI-JP 22 43405079 43405079 single base substitution A G intron_variant LIRI-JP 22 43405772 43405772 single base substitution T A intron_variant LIRI-JP 22 43406025 43406025 single base substitution G A intron_variant LIRI-JP 22 43406918 43406918 deletion of <=200bp A - intron_variant LIRI-JP 22 43409301 43409301 single base substitution T C intron_variant LIRI-JP 22 43411492 43411492 single base substitution G A upstream_gene_variant LIRI-JP 22 43412703 43412703 single base substitution A G upstream_gene_variant LIRI-JP 22 43413657 43413657 single base substitution G C upstream_gene_variant LUSC-KR 22 43228398 43228398 single base substitution G A downstream_gene_variant LUSC-KR 22 43230429 43230429 single base substitution G C downstream_gene_variant LUSC-KR 22 43237148 43237148 single base substitution G A intron_variant LUSC-KR 22 43247487 43247487 single base substitution C A intron_variant LUSC-KR 22 43249200 43249200 single base substitution T C intron_variant LUSC-KR 22 43253272 43253272 single base substitution G C intron_variant LUSC-KR 22 43254375 43254375 single base substitution C A intron_variant LUSC-KR 22 43255578 43255578 single base substitution C G intron_variant LUSC-KR 22 43257923 43257923 single base substitution G A intron_variant LUSC-KR 22 43275176 43275176 single base substitution C G splice_acceptor_variant LUSC-KR 22 43275176 43275176 single base substitution C G upstream_gene_variant LUSC-KR 22 43276728 43276728 single base substitution C T intron_variant LUSC-KR 22 43276728 43276728 single base substitution C T upstream_gene_variant LUSC-KR 22 43277515 43277515 single base substitution C A intron_variant LUSC-KR 22 43285391 43285391 single base substitution C T downstream_gene_variant LUSC-KR 22 43285391 43285391 single base substitution C T intron_variant LUSC-KR 22 43288993 43288993 single base substitution G T downstream_gene_variant LUSC-KR 22 43288993 43288993 single base substitution G T intron_variant LUSC-KR 22 43293384 43293384 single base substitution C G intron_variant LUSC-KR 22 43308261 43308261 single base substitution T C intron_variant LUSC-KR 22 43309722 43309722 single base substitution C G intron_variant LUSC-KR 22 43310844 43310844 single base substitution C T intron_variant LUSC-KR 22 43311423 43311423 single base substitution C A intron_variant LUSC-KR 22 43321715 43321715 single base substitution T C intron_variant LUSC-KR 22 43329337 43329337 single base substitution G A intron_variant LUSC-KR 22 43330141 43330141 single base substitution C T intron_variant LUSC-KR 22 43330841 43330841 single base substitution G C intron_variant LUSC-KR 22 43335949 43335949 single base substitution C T intron_variant LUSC-KR 22 43343984 43343984 single base substitution C G intron_variant LUSC-KR 22 43343984 43343984 single base substitution C G upstream_gene_variant LUSC-KR 22 43353925 43353925 single base substitution A T intron_variant LUSC-KR 22 43357988 43357988 single base substitution G A intron_variant LUSC-KR 22 43357988 43357988 single base substitution G A upstream_gene_variant LUSC-KR 22 43370585 43370585 single base substitution C A intron_variant LUSC-KR 22 43372587 43372587 single base substitution T C intron_variant LUSC-KR 22 43376776 43376776 single base substitution G A intron_variant LUSC-KR 22 43377198 43377198 single base substitution G A intron_variant LUSC-KR 22 43377593 43377593 single base substitution T C intron_variant LUSC-KR 22 43378263 43378263 single base substitution G A intron_variant LUSC-KR 22 43378278 43378278 single base substitution G A intron_variant LUSC-KR 22 43378380 43378380 single base substitution T A intron_variant LUSC-KR 22 43378419 43378419 single base substitution G A intron_variant LUSC-KR 22 43378483 43378483 single base substitution G T intron_variant LUSC-KR 22 43382312 43382312 single base substitution C A intron_variant LUSC-KR 22 43382410 43382410 single base substitution G A intron_variant LUSC-KR 22 43383947 43383947 single base substitution G C intron_variant LUSC-KR 22 43386437 43386437 single base substitution C A intron_variant LUSC-KR 22 43390144 43390144 single base substitution A T intron_variant LUSC-KR 22 43390325 43390325 single base substitution G C intron_variant LUSC-KR 22 43408626 43408626 single base substitution G A intron_variant LUSC-KR 22 43413664 43413664 single base substitution G T upstream_gene_variant LUSC-US 22 43280505 43280505 single base substitution C T synonymous_variant E224E 672G>A LUSC-US 22 43308058 43308058 single base substitution C T exon_variant LUSC-US 22 43308058 43308058 single base substitution C T missense_variant G10E 29G>A MALY-DE 22 43232442 43232442 single base substitution G A intron_variant MALY-DE 22 43245356 43245356 single base substitution G T intron_variant MALY-DE 22 43247523 43247523 single base substitution T C intron_variant MALY-DE 22 43266920 43266920 single base substitution A G 3_prime_UTR_variant MALY-DE 22 43266920 43266920 single base substitution A G downstream_gene_variant MALY-DE 22 43266920 43266920 single base substitution A G intron_variant MALY-DE 22 43294049 43294049 single base substitution G A intron_variant MALY-DE 22 43295580 43295580 single base substitution C T intron_variant MALY-DE 22 43298693 43298693 single base substitution C T intron_variant MALY-DE 22 43300038 43300038 single base substitution G T intron_variant MALY-DE 22 43305938 43305938 single base substitution G A intron_variant MALY-DE 22 43307507 43307507 single base substitution A C intron_variant MALY-DE 22 43310759 43310759 single base substitution G A intron_variant MALY-DE 22 43316139 43316139 single base substitution A G intron_variant MALY-DE 22 43322374 43322374 single base substitution T G intron_variant MALY-DE 22 43323461 43323461 single base substitution G A intron_variant MALY-DE 22 43335961 43335961 single base substitution A G intron_variant MALY-DE 22 43336039 43336039 single base substitution A C intron_variant MALY-DE 22 43344473 43344473 single base substitution G C intron_variant MALY-DE 22 43344473 43344473 single base substitution G C upstream_gene_variant MALY-DE 22 43345441 43345441 single base substitution A G intron_variant MALY-DE 22 43345441 43345441 single base substitution A G upstream_gene_variant MALY-DE 22 43348316 43348316 single base substitution T G intron_variant MALY-DE 22 43351894 43351894 single base substitution G A intron_variant MALY-DE 22 43364725 43364727 deletion of <=200bp AAC - intron_variant MALY-DE 22 43371832 43371832 single base substitution C T intron_variant MALY-DE 22 43382299 43382299 single base substitution G T intron_variant MALY-DE 22 43386031 43386031 insertion of <=200bp - TGTG intron_variant MALY-DE 22 43393599 43393599 single base substitution A T intron_variant MALY-DE 22 43393852 43393852 single base substitution A C intron_variant MALY-DE 22 43399558 43399558 single base substitution G A intron_variant MALY-DE 22 43399558 43399558 single base substitution G A upstream_gene_variant MALY-DE 22 43413594 43413594 single base substitution C T upstream_gene_variant MELA-AU 22 43226907 43226907 insertion of <=200bp - C downstream_gene_variant MELA-AU 22 43227407 43227407 single base substitution G A downstream_gene_variant MELA-AU 22 43227535 43227535 single base substitution G A downstream_gene_variant MELA-AU 22 43228238 43228238 single base substitution A G downstream_gene_variant MELA-AU 22 43228967 43228967 single base substitution G A downstream_gene_variant MELA-AU 22 43228978 43228978 single base substitution G A downstream_gene_variant MELA-AU 22 43229922 43229922 single base substitution C T downstream_gene_variant MELA-AU 22 43229976 43229976 single base substitution T A downstream_gene_variant MELA-AU 22 43230077 43230077 single base substitution G A downstream_gene_variant MELA-AU 22 43230294 43230294 single base substitution G A downstream_gene_variant MELA-AU 22 43230559 43230559 single base substitution A G downstream_gene_variant MELA-AU 22 43231594 43231594 single base substitution G A intron_variant MELA-AU 22 43231939 43231939 single base substitution G T intron_variant MELA-AU 22 43232251 43232251 single base substitution G A intron_variant MELA-AU 22 43232252 43232252 single base substitution G A intron_variant MELA-AU 22 43232859 43232859 single base substitution A C intron_variant MELA-AU 22 43234123 43234123 single base substitution G T intron_variant MELA-AU 22 43234183 43234184 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 43234918 43234918 single base substitution C T intron_variant MELA-AU 22 43235425 43235425 single base substitution T C intron_variant MELA-AU 22 43235486 43235486 single base substitution C T intron_variant MELA-AU 22 43236447 43236447 single base substitution G A intron_variant MELA-AU 22 43236650 43236650 single base substitution G A intron_variant MELA-AU 22 43236922 43236922 single base substitution G A intron_variant MELA-AU 22 43237518 43237518 single base substitution G A intron_variant MELA-AU 22 43237633 43237633 single base substitution G A intron_variant MELA-AU 22 43238070 43238070 single base substitution G A intron_variant MELA-AU 22 43238101 43238101 single base substitution C T intron_variant MELA-AU 22 43238146 43238146 single base substitution G A intron_variant MELA-AU 22 43238223 43238223 single base substitution T C intron_variant MELA-AU 22 43238527 43238527 single base substitution C T intron_variant MELA-AU 22 43238595 43238595 single base substitution G A intron_variant MELA-AU 22 43238860 43238860 single base substitution T C intron_variant MELA-AU 22 43238881 43238881 single base substitution G A intron_variant MELA-AU 22 43239731 43239731 single base substitution G A intron_variant MELA-AU 22 43239766 43239766 single base substitution G A intron_variant MELA-AU 22 43240516 43240516 single base substitution G A intron_variant MELA-AU 22 43241299 43241299 single base substitution G A intron_variant MELA-AU 22 43241350 43241350 single base substitution G A intron_variant MELA-AU 22 43241593 43241593 single base substitution G A intron_variant MELA-AU 22 43241804 43241804 single base substitution G A intron_variant MELA-AU 22 43241812 43241812 single base substitution G A intron_variant MELA-AU 22 43241976 43241976 single base substitution G A intron_variant MELA-AU 22 43242095 43242095 single base substitution T C intron_variant MELA-AU 22 43242366 43242366 single base substitution G A intron_variant MELA-AU 22 43243458 43243458 single base substitution G A intron_variant MELA-AU 22 43243801 43243801 single base substitution C G intron_variant MELA-AU 22 43244239 43244239 single base substitution G A intron_variant MELA-AU 22 43244634 43244634 single base substitution G A intron_variant MELA-AU 22 43244926 43244926 single base substitution C T intron_variant MELA-AU 22 43245486 43245486 single base substitution C T intron_variant MELA-AU 22 43246149 43246149 single base substitution G A intron_variant MELA-AU 22 43246227 43246227 single base substitution G A intron_variant MELA-AU 22 43247651 43247651 single base substitution T G intron_variant MELA-AU 22 43247787 43247787 single base substitution G A intron_variant MELA-AU 22 43248171 43248171 single base substitution C T intron_variant MELA-AU 22 43249247 43249247 single base substitution C T intron_variant MELA-AU 22 43249376 43249376 single base substitution A T intron_variant MELA-AU 22 43249639 43249639 single base substitution G A intron_variant MELA-AU 22 43249709 43249709 single base substitution G A intron_variant MELA-AU 22 43250335 43250335 single base substitution G A intron_variant MELA-AU 22 43251123 43251123 single base substitution G A intron_variant MELA-AU 22 43252497 43252497 single base substitution C T intron_variant MELA-AU 22 43252595 43252595 single base substitution T C intron_variant MELA-AU 22 43252838 43252838 deletion of <=200bp C - intron_variant MELA-AU 22 43253883 43253883 single base substitution A G intron_variant MELA-AU 22 43254379 43254379 single base substitution G A intron_variant MELA-AU 22 43255221 43255221 single base substitution G A intron_variant MELA-AU 22 43255281 43255281 single base substitution A G intron_variant MELA-AU 22 43255291 43255291 single base substitution T A intron_variant MELA-AU 22 43255496 43255496 single base substitution A G intron_variant MELA-AU 22 43255831 43255831 single base substitution C T intron_variant MELA-AU 22 43256321 43256321 single base substitution C T intron_variant MELA-AU 22 43256451 43256451 single base substitution C T intron_variant MELA-AU 22 43257181 43257181 single base substitution G A intron_variant MELA-AU 22 43257302 43257302 single base substitution A G intron_variant MELA-AU 22 43258274 43258274 single base substitution C A intron_variant MELA-AU 22 43259919 43259919 single base substitution C T intron_variant MELA-AU 22 43261457 43261457 single base substitution T C downstream_gene_variant MELA-AU 22 43261457 43261457 single base substitution T C intron_variant MELA-AU 22 43261666 43261666 single base substitution A G downstream_gene_variant MELA-AU 22 43261666 43261666 single base substitution A G intron_variant MELA-AU 22 43261770 43261770 single base substitution C T downstream_gene_variant MELA-AU 22 43261770 43261770 single base substitution C T intron_variant MELA-AU 22 43261976 43261976 single base substitution T A downstream_gene_variant MELA-AU 22 43261976 43261976 single base substitution T A intron_variant MELA-AU 22 43261982 43261982 single base substitution T C downstream_gene_variant MELA-AU 22 43261982 43261982 single base substitution T C intron_variant MELA-AU 22 43262017 43262017 single base substitution G A downstream_gene_variant MELA-AU 22 43262017 43262017 single base substitution G A intron_variant MELA-AU 22 43262049 43262049 single base substitution G A downstream_gene_variant MELA-AU 22 43262049 43262049 single base substitution G A intron_variant MELA-AU 22 43262363 43262363 single base substitution G A downstream_gene_variant MELA-AU 22 43262363 43262363 single base substitution G A intron_variant MELA-AU 22 43262496 43262496 single base substitution G A downstream_gene_variant MELA-AU 22 43262496 43262496 single base substitution G A intron_variant MELA-AU 22 43264067 43264067 single base substitution G A downstream_gene_variant MELA-AU 22 43264067 43264067 single base substitution G A intron_variant MELA-AU 22 43264398 43264398 single base substitution G A downstream_gene_variant MELA-AU 22 43264398 43264398 single base substitution G A intron_variant MELA-AU 22 43264409 43264409 single base substitution G A downstream_gene_variant MELA-AU 22 43264409 43264409 single base substitution G A intron_variant MELA-AU 22 43264411 43264411 single base substitution G A downstream_gene_variant MELA-AU 22 43264411 43264411 single base substitution G A intron_variant MELA-AU 22 43264542 43264542 single base substitution C T downstream_gene_variant MELA-AU 22 43264542 43264542 single base substitution C T intron_variant MELA-AU 22 43266658 43266658 single base substitution G A 3_prime_UTR_variant MELA-AU 22 43266658 43266658 single base substitution G A downstream_gene_variant MELA-AU 22 43266658 43266658 single base substitution G A intron_variant MELA-AU 22 43266952 43266952 single base substitution C A 3_prime_UTR_variant MELA-AU 22 43266952 43266952 single base substitution C A downstream_gene_variant MELA-AU 22 43266952 43266952 single base substitution C A intron_variant MELA-AU 22 43267012 43267012 single base substitution G C 3_prime_UTR_variant MELA-AU 22 43267012 43267012 single base substitution G C downstream_gene_variant MELA-AU 22 43267012 43267012 single base substitution G C intron_variant MELA-AU 22 43268000 43268000 single base substitution G A intron_variant MELA-AU 22 43269312 43269312 single base substitution G A intron_variant MELA-AU 22 43269743 43269743 single base substitution G C intron_variant MELA-AU 22 43269894 43269894 single base substitution G A intron_variant MELA-AU 22 43269961 43269961 single base substitution A T intron_variant MELA-AU 22 43272021 43272021 single base substitution G A intron_variant MELA-AU 22 43272041 43272041 single base substitution G A intron_variant MELA-AU 22 43272239 43272239 single base substitution G A missense_variant P377S 1129C>T MELA-AU 22 43272239 43272239 single base substitution G A missense_variant P418S 1252C>T MELA-AU 22 43272239 43272239 single base substitution G A upstream_gene_variant MELA-AU 22 43272447 43272447 single base substitution G A intron_variant MELA-AU 22 43272447 43272447 single base substitution G A upstream_gene_variant MELA-AU 22 43272659 43272659 single base substitution G A intron_variant MELA-AU 22 43272659 43272659 single base substitution G A upstream_gene_variant MELA-AU 22 43273092 43273092 single base substitution G A intron_variant MELA-AU 22 43273092 43273092 single base substitution G A upstream_gene_variant MELA-AU 22 43273224 43273224 single base substitution G A intron_variant MELA-AU 22 43273224 43273224 single base substitution G A upstream_gene_variant MELA-AU 22 43273434 43273434 single base substitution G A intron_variant MELA-AU 22 43273434 43273434 single base substitution G A upstream_gene_variant MELA-AU 22 43273502 43273502 single base substitution G A intron_variant MELA-AU 22 43273502 43273502 single base substitution G A upstream_gene_variant MELA-AU 22 43273615 43273615 single base substitution G A intron_variant MELA-AU 22 43273615 43273615 single base substitution G A upstream_gene_variant MELA-AU 22 43273775 43273775 single base substitution G A intron_variant MELA-AU 22 43273775 43273775 single base substitution G A upstream_gene_variant MELA-AU 22 43274148 43274148 single base substitution A G intron_variant MELA-AU 22 43274148 43274148 single base substitution A G upstream_gene_variant MELA-AU 22 43275016 43275016 single base substitution G A intron_variant MELA-AU 22 43275016 43275016 single base substitution G A upstream_gene_variant MELA-AU 22 43275138 43275138 single base substitution C T missense_variant R315K 944G>A MELA-AU 22 43275138 43275138 single base substitution C T upstream_gene_variant MELA-AU 22 43275200 43275200 single base substitution G A intron_variant MELA-AU 22 43275200 43275200 single base substitution G A upstream_gene_variant MELA-AU 22 43275416 43275416 single base substitution G A intron_variant MELA-AU 22 43275416 43275416 single base substitution G A upstream_gene_variant MELA-AU 22 43275664 43275664 single base substitution G C intron_variant MELA-AU 22 43275664 43275664 single base substitution G C upstream_gene_variant MELA-AU 22 43275693 43275693 single base substitution G A intron_variant MELA-AU 22 43275693 43275693 single base substitution G A upstream_gene_variant MELA-AU 22 43276589 43276589 single base substitution G A intron_variant MELA-AU 22 43276589 43276589 single base substitution G A upstream_gene_variant MELA-AU 22 43277219 43277219 single base substitution G A intron_variant MELA-AU 22 43277455 43277455 single base substitution G A intron_variant MELA-AU 22 43277814 43277814 single base substitution G A intron_variant MELA-AU 22 43278719 43278719 single base substitution C T intron_variant MELA-AU 22 43279054 43279054 single base substitution G A intron_variant MELA-AU 22 43279417 43279417 single base substitution C A intron_variant MELA-AU 22 43279956 43279956 single base substitution T C intron_variant MELA-AU 22 43280363 43280363 single base substitution G A intron_variant MELA-AU 22 43280692 43280692 single base substitution C T intron_variant MELA-AU 22 43280784 43280784 single base substitution C T intron_variant MELA-AU 22 43280805 43280805 single base substitution A G intron_variant MELA-AU 22 43281148 43281148 single base substitution G A intron_variant MELA-AU 22 43281179 43281179 single base substitution C T intron_variant MELA-AU 22 43281252 43281252 single base substitution T C intron_variant MELA-AU 22 43281365 43281365 single base substitution G A intron_variant MELA-AU 22 43282421 43282421 single base substitution T G downstream_gene_variant MELA-AU 22 43282421 43282421 single base substitution T G intron_variant MELA-AU 22 43282469 43282470 multiple base substitution (>=2bp and <=200bp) CC TG downstream_gene_variant MELA-AU 22 43282469 43282470 multiple base substitution (>=2bp and <=200bp) CC TG intron_variant MELA-AU 22 43283003 43283003 single base substitution G A downstream_gene_variant MELA-AU 22 43283003 43283003 single base substitution G A intron_variant MELA-AU 22 43283654 43283654 single base substitution G A downstream_gene_variant MELA-AU 22 43283654 43283654 single base substitution G A intron_variant MELA-AU 22 43283658 43283658 single base substitution G A downstream_gene_variant MELA-AU 22 43283658 43283658 single base substitution G A intron_variant MELA-AU 22 43284292 43284292 single base substitution C G downstream_gene_variant MELA-AU 22 43284292 43284292 single base substitution C G intron_variant MELA-AU 22 43285623 43285623 single base substitution A G downstream_gene_variant MELA-AU 22 43285623 43285623 single base substitution A G intron_variant MELA-AU 22 43286658 43286658 single base substitution T C downstream_gene_variant MELA-AU 22 43286658 43286658 single base substitution T C intron_variant MELA-AU 22 43286698 43286698 single base substitution G A downstream_gene_variant MELA-AU 22 43286698 43286698 single base substitution G A intron_variant MELA-AU 22 43287005 43287005 single base substitution G A downstream_gene_variant MELA-AU 22 43287005 43287005 single base substitution G A missense_variant A134V 401C>T MELA-AU 22 43287041 43287041 single base substitution T C downstream_gene_variant MELA-AU 22 43287041 43287041 single base substitution T C missense_variant K122R 365A>G MELA-AU 22 43287045 43287045 single base substitution G A downstream_gene_variant MELA-AU 22 43287045 43287045 single base substitution G A missense_variant H121Y 361C>T MELA-AU 22 43287203 43287203 single base substitution G A downstream_gene_variant MELA-AU 22 43287203 43287203 single base substitution G A intron_variant MELA-AU 22 43287804 43287805 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 22 43287804 43287805 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 43287806 43287806 single base substitution G A downstream_gene_variant MELA-AU 22 43287806 43287806 single base substitution G A intron_variant MELA-AU 22 43290134 43290134 single base substitution C G intron_variant MELA-AU 22 43290151 43290182 deletion of <=200bp AATAAGTGTCCCCATTTTACAGATGAGGAAAC - intron_variant MELA-AU 22 43290735 43290736 deletion of <=200bp AT - intron_variant MELA-AU 22 43290923 43290923 single base substitution G A intron_variant MELA-AU 22 43291856 43291856 single base substitution G A intron_variant MELA-AU 22 43292406 43292406 single base substitution T G intron_variant MELA-AU 22 43292587 43292587 single base substitution A G intron_variant MELA-AU 22 43292662 43292662 single base substitution G A intron_variant MELA-AU 22 43292987 43292987 single base substitution G A intron_variant MELA-AU 22 43293339 43293339 single base substitution G A intron_variant MELA-AU 22 43293876 43293876 single base substitution G C intron_variant MELA-AU 22 43294639 43294639 single base substitution G A intron_variant MELA-AU 22 43295985 43295986 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 43296750 43296750 single base substitution G A intron_variant MELA-AU 22 43297346 43297346 single base substitution G A intron_variant MELA-AU 22 43297713 43297714 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 43297928 43297928 single base substitution C A intron_variant MELA-AU 22 43298424 43298424 single base substitution G A intron_variant MELA-AU 22 43298598 43298598 single base substitution C G intron_variant MELA-AU 22 43298871 43298871 deletion of <=200bp C - intron_variant MELA-AU 22 43299037 43299037 single base substitution G A intron_variant MELA-AU 22 43299459 43299459 single base substitution G A intron_variant MELA-AU 22 43299800 43299800 single base substitution T A intron_variant MELA-AU 22 43300117 43300117 single base substitution A G intron_variant MELA-AU 22 43300221 43300221 single base substitution C T intron_variant MELA-AU 22 43300580 43300604 deletion of <=200bp TCCAAAACTGGCTCGACCCCTAAGG - intron_variant MELA-AU 22 43301014 43301014 single base substitution G A intron_variant MELA-AU 22 43301245 43301245 single base substitution G A intron_variant MELA-AU 22 43301317 43301317 single base substitution C T intron_variant MELA-AU 22 43301831 43301831 single base substitution C A intron_variant MELA-AU 22 43301835 43301835 single base substitution C T intron_variant MELA-AU 22 43302165 43302165 single base substitution G A intron_variant MELA-AU 22 43302249 43302249 single base substitution A T intron_variant MELA-AU 22 43302537 43302537 single base substitution G A intron_variant MELA-AU 22 43303597 43303597 single base substitution G A intron_variant MELA-AU 22 43304773 43304773 single base substitution C G intron_variant MELA-AU 22 43304945 43304945 single base substitution G A intron_variant MELA-AU 22 43305686 43305687 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 43306219 43306219 single base substitution T G intron_variant MELA-AU 22 43306257 43306257 single base substitution G A intron_variant MELA-AU 22 43306265 43306265 single base substitution T A intron_variant MELA-AU 22 43306758 43306758 single base substitution G A intron_variant MELA-AU 22 43306759 43306759 single base substitution G A intron_variant MELA-AU 22 43307264 43307264 single base substitution G A intron_variant MELA-AU 22 43308565 43308565 single base substitution A G intron_variant MELA-AU 22 43309104 43309104 single base substitution G A intron_variant MELA-AU 22 43309246 43309246 single base substitution G A intron_variant MELA-AU 22 43310220 43310220 single base substitution G A intron_variant MELA-AU 22 43312051 43312051 single base substitution C T intron_variant MELA-AU 22 43312684 43312684 single base substitution C T intron_variant MELA-AU 22 43313472 43313472 single base substitution T G intron_variant MELA-AU 22 43316380 43316380 single base substitution G A intron_variant MELA-AU 22 43317156 43317156 single base substitution G A intron_variant MELA-AU 22 43318306 43318306 single base substitution C T intron_variant MELA-AU 22 43318380 43318380 single base substitution G A intron_variant MELA-AU 22 43318387 43318387 single base substitution A G intron_variant MELA-AU 22 43318926 43318926 single base substitution G T intron_variant MELA-AU 22 43319297 43319297 single base substitution C T intron_variant MELA-AU 22 43319710 43319710 single base substitution G A intron_variant MELA-AU 22 43319744 43319744 single base substitution C T intron_variant MELA-AU 22 43321225 43321225 single base substitution T G intron_variant MELA-AU 22 43321394 43321394 single base substitution G A intron_variant MELA-AU 22 43322075 43322075 single base substitution G A intron_variant MELA-AU 22 43322733 43322733 single base substitution G A intron_variant MELA-AU 22 43322746 43322746 single base substitution G A intron_variant MELA-AU 22 43324003 43324003 single base substitution G A intron_variant MELA-AU 22 43324211 43324211 single base substitution G A intron_variant MELA-AU 22 43324585 43324585 single base substitution G A intron_variant MELA-AU 22 43324729 43324729 single base substitution G A intron_variant MELA-AU 22 43324730 43324730 single base substitution G A intron_variant MELA-AU 22 43326461 43326461 single base substitution G A intron_variant MELA-AU 22 43326995 43326995 single base substitution G A intron_variant MELA-AU 22 43328351 43328351 single base substitution A G intron_variant MELA-AU 22 43328404 43328404 single base substitution T A intron_variant MELA-AU 22 43328574 43328574 single base substitution G A intron_variant MELA-AU 22 43328679 43328679 single base substitution T C intron_variant MELA-AU 22 43329403 43329403 single base substitution G A intron_variant MELA-AU 22 43329756 43329756 single base substitution A G intron_variant MELA-AU 22 43331655 43331656 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 43332020 43332021 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 43332604 43332604 single base substitution T C intron_variant MELA-AU 22 43332924 43332924 single base substitution G A intron_variant MELA-AU 22 43333749 43333749 single base substitution G A intron_variant MELA-AU 22 43333790 43333790 single base substitution C T intron_variant MELA-AU 22 43333886 43333886 single base substitution G A intron_variant MELA-AU 22 43334474 43334474 single base substitution G A intron_variant MELA-AU 22 43334651 43334651 single base substitution T A intron_variant MELA-AU 22 43335855 43335855 single base substitution A T intron_variant MELA-AU 22 43336247 43336247 single base substitution G A intron_variant MELA-AU 22 43337666 43337666 single base substitution C T intron_variant MELA-AU 22 43337787 43337787 single base substitution T G intron_variant MELA-AU 22 43338448 43338448 single base substitution G A intron_variant MELA-AU 22 43338991 43338991 single base substitution G A intron_variant MELA-AU 22 43339145 43339145 single base substitution C T intron_variant MELA-AU 22 43339318 43339318 single base substitution T C intron_variant MELA-AU 22 43340151 43340151 single base substitution G A intron_variant MELA-AU 22 43340481 43340481 single base substitution G A intron_variant MELA-AU 22 43340559 43340559 single base substitution G A intron_variant MELA-AU 22 43340562 43340562 single base substitution A G intron_variant MELA-AU 22 43340875 43340875 single base substitution G A intron_variant MELA-AU 22 43341270 43341270 single base substitution G A intron_variant MELA-AU 22 43342195 43342195 single base substitution T C intron_variant MELA-AU 22 43342195 43342195 single base substitution T C upstream_gene_variant MELA-AU 22 43342382 43342382 single base substitution C T intron_variant MELA-AU 22 43342382 43342382 single base substitution C T upstream_gene_variant MELA-AU 22 43342968 43342969 multiple base substitution (>=2bp and <=200bp) GG AA 5_prime_UTR_variant MELA-AU 22 43342968 43342969 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 43342968 43342969 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 22 43343158 43343159 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 43343158 43343159 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 22 43343550 43343550 single base substitution C T intron_variant MELA-AU 22 43343550 43343550 single base substitution C T upstream_gene_variant MELA-AU 22 43344912 43344913 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 43344912 43344913 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 22 43344926 43344926 single base substitution G A intron_variant MELA-AU 22 43344926 43344926 single base substitution G A upstream_gene_variant MELA-AU 22 43345539 43345539 single base substitution G A intron_variant MELA-AU 22 43345539 43345539 single base substitution G A upstream_gene_variant MELA-AU 22 43345918 43345918 single base substitution A G intron_variant MELA-AU 22 43345918 43345918 single base substitution A G upstream_gene_variant MELA-AU 22 43346097 43346097 single base substitution G A intron_variant MELA-AU 22 43346097 43346097 single base substitution G A upstream_gene_variant MELA-AU 22 43346554 43346555 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 43346554 43346555 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 22 43347047 43347047 single base substitution C T intron_variant MELA-AU 22 43347047 43347047 single base substitution C T upstream_gene_variant MELA-AU 22 43348882 43348882 single base substitution G T intron_variant MELA-AU 22 43349076 43349076 single base substitution C T intron_variant MELA-AU 22 43349237 43349237 single base substitution A G intron_variant MELA-AU 22 43349251 43349251 single base substitution T G intron_variant MELA-AU 22 43349970 43349971 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 43350583 43350583 single base substitution G A intron_variant MELA-AU 22 43350726 43350726 single base substitution G A intron_variant MELA-AU 22 43350818 43350818 single base substitution G A intron_variant MELA-AU 22 43351404 43351404 single base substitution G A intron_variant MELA-AU 22 43352485 43352485 single base substitution G A intron_variant MELA-AU 22 43353508 43353508 single base substitution T A intron_variant MELA-AU 22 43354404 43354404 insertion of <=200bp - ACT intron_variant MELA-AU 22 43355338 43355338 single base substitution G A intron_variant MELA-AU 22 43357138 43357138 single base substitution A G intron_variant MELA-AU 22 43357138 43357138 single base substitution A G upstream_gene_variant MELA-AU 22 43358510 43358510 single base substitution A T intron_variant MELA-AU 22 43358510 43358510 single base substitution A T upstream_gene_variant MELA-AU 22 43360404 43360404 single base substitution A G intron_variant MELA-AU 22 43360404 43360404 single base substitution A G upstream_gene_variant MELA-AU 22 43361099 43361099 single base substitution T C intron_variant MELA-AU 22 43361451 43361451 single base substitution G A intron_variant MELA-AU 22 43362192 43362192 single base substitution A G intron_variant MELA-AU 22 43362572 43362572 single base substitution G A intron_variant MELA-AU 22 43363032 43363032 single base substitution G A intron_variant MELA-AU 22 43363083 43363083 single base substitution C T intron_variant MELA-AU 22 43363225 43363225 single base substitution G A intron_variant MELA-AU 22 43363247 43363247 single base substitution G A intron_variant MELA-AU 22 43363302 43363302 single base substitution G A intron_variant MELA-AU 22 43363317 43363317 single base substitution C T intron_variant MELA-AU 22 43363769 43363769 single base substitution C T intron_variant MELA-AU 22 43363870 43363870 single base substitution G A intron_variant MELA-AU 22 43364149 43364149 single base substitution G A intron_variant MELA-AU 22 43364310 43364310 single base substitution A G intron_variant MELA-AU 22 43364472 43364472 single base substitution G A intron_variant MELA-AU 22 43364653 43364653 single base substitution G A intron_variant MELA-AU 22 43364658 43364658 single base substitution G A intron_variant MELA-AU 22 43364835 43364835 single base substitution G A intron_variant MELA-AU 22 43365680 43365680 single base substitution C T intron_variant MELA-AU 22 43365985 43365985 single base substitution G A intron_variant MELA-AU 22 43366076 43366077 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 43366378 43366378 single base substitution C T intron_variant MELA-AU 22 43367475 43367476 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 43367764 43367765 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 22 43368380 43368380 single base substitution G A intron_variant MELA-AU 22 43370558 43370558 single base substitution A G intron_variant MELA-AU 22 43370698 43370698 single base substitution T C intron_variant MELA-AU 22 43371976 43371976 single base substitution G A intron_variant MELA-AU 22 43372196 43372196 single base substitution A G intron_variant MELA-AU 22 43372435 43372435 single base substitution C T intron_variant MELA-AU 22 43372619 43372619 single base substitution G A intron_variant MELA-AU 22 43372747 43372747 single base substitution A T intron_variant MELA-AU 22 43373062 43373062 single base substitution A C intron_variant MELA-AU 22 43375306 43375306 single base substitution G A intron_variant MELA-AU 22 43377560 43377560 single base substitution C T intron_variant MELA-AU 22 43377782 43377782 single base substitution G A intron_variant MELA-AU 22 43379020 43379020 single base substitution C T intron_variant MELA-AU 22 43379041 43379041 single base substitution G A intron_variant MELA-AU 22 43379393 43379393 single base substitution G A intron_variant MELA-AU 22 43380687 43380687 single base substitution G A intron_variant MELA-AU 22 43383723 43383723 single base substitution G A intron_variant MELA-AU 22 43383974 43383974 single base substitution C T intron_variant MELA-AU 22 43384716 43384716 single base substitution G A intron_variant MELA-AU 22 43385531 43385531 single base substitution G A intron_variant MELA-AU 22 43385889 43385889 single base substitution T C intron_variant MELA-AU 22 43386548 43386548 single base substitution G A intron_variant MELA-AU 22 43387231 43387231 single base substitution G A intron_variant MELA-AU 22 43387631 43387631 single base substitution G A intron_variant MELA-AU 22 43387729 43387729 single base substitution G A intron_variant MELA-AU 22 43388378 43388378 single base substitution C T intron_variant MELA-AU 22 43389280 43389280 single base substitution T C intron_variant MELA-AU 22 43389825 43389825 single base substitution G A intron_variant MELA-AU 22 43390694 43390695 multiple base substitution (>=2bp and <=200bp) TC AT intron_variant MELA-AU 22 43391212 43391212 single base substitution G A intron_variant MELA-AU 22 43391817 43391817 single base substitution C T intron_variant MELA-AU 22 43391880 43391880 single base substitution G A intron_variant MELA-AU 22 43392315 43392315 single base substitution G A intron_variant MELA-AU 22 43392431 43392431 single base substitution G A intron_variant MELA-AU 22 43392542 43392542 single base substitution A T intron_variant MELA-AU 22 43392707 43392707 single base substitution G A intron_variant MELA-AU 22 43392767 43392767 single base substitution G A intron_variant MELA-AU 22 43394473 43394473 single base substitution G A intron_variant MELA-AU 22 43394521 43394521 single base substitution G A intron_variant MELA-AU 22 43394690 43394690 single base substitution G A intron_variant MELA-AU 22 43394840 43394840 single base substitution G A intron_variant MELA-AU 22 43395803 43395803 single base substitution G A intron_variant MELA-AU 22 43396220 43396220 single base substitution G A intron_variant MELA-AU 22 43396321 43396321 single base substitution G A intron_variant MELA-AU 22 43396457 43396457 single base substitution G A intron_variant MELA-AU 22 43396688 43396688 single base substitution C A intron_variant MELA-AU 22 43397791 43397791 single base substitution G A intron_variant MELA-AU 22 43398354 43398354 single base substitution A G 5_prime_UTR_variant MELA-AU 22 43398354 43398354 single base substitution A G intron_variant MELA-AU 22 43398564 43398564 single base substitution G A intron_variant MELA-AU 22 43398564 43398564 single base substitution G A upstream_gene_variant MELA-AU 22 43398577 43398577 single base substitution A G intron_variant MELA-AU 22 43398577 43398577 single base substitution A G upstream_gene_variant MELA-AU 22 43398860 43398860 single base substitution C T intron_variant MELA-AU 22 43398860 43398860 single base substitution C T upstream_gene_variant MELA-AU 22 43398885 43398885 single base substitution G A intron_variant MELA-AU 22 43398885 43398885 single base substitution G A upstream_gene_variant MELA-AU 22 43398886 43398886 single base substitution G A intron_variant MELA-AU 22 43398886 43398886 single base substitution G A upstream_gene_variant MELA-AU 22 43399400 43399400 single base substitution G A intron_variant MELA-AU 22 43399400 43399400 single base substitution G A upstream_gene_variant MELA-AU 22 43399541 43399542 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 43399541 43399542 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 22 43401114 43401114 single base substitution C A intron_variant MELA-AU 22 43401114 43401114 single base substitution C A upstream_gene_variant MELA-AU 22 43401881 43401881 single base substitution C T intron_variant MELA-AU 22 43401881 43401881 single base substitution C T upstream_gene_variant MELA-AU 22 43402219 43402219 single base substitution G A intron_variant MELA-AU 22 43402219 43402219 single base substitution G A upstream_gene_variant MELA-AU 22 43402483 43402483 single base substitution A G intron_variant MELA-AU 22 43402483 43402483 single base substitution A G upstream_gene_variant MELA-AU 22 43402992 43402992 single base substitution G A intron_variant MELA-AU 22 43402992 43402992 single base substitution G A upstream_gene_variant MELA-AU 22 43403360 43403360 single base substitution C T intron_variant MELA-AU 22 43403360 43403360 single base substitution C T upstream_gene_variant MELA-AU 22 43404513 43404513 single base substitution C T intron_variant MELA-AU 22 43405280 43405280 single base substitution G A intron_variant MELA-AU 22 43405823 43405823 single base substitution G A intron_variant MELA-AU 22 43407385 43407385 single base substitution G A intron_variant MELA-AU 22 43408160 43408160 single base substitution A C intron_variant MELA-AU 22 43408290 43408290 single base substitution G A intron_variant MELA-AU 22 43408410 43408410 single base substitution G A intron_variant MELA-AU 22 43410974 43410974 single base substitution C T intron_variant MELA-AU 22 43411238 43411238 single base substitution G A upstream_gene_variant MELA-AU 22 43412631 43412631 single base substitution G A upstream_gene_variant MELA-AU 22 43413078 43413078 single base substitution C T upstream_gene_variant MELA-AU 22 43413836 43413836 single base substitution C T upstream_gene_variant MELA-AU 22 43414079 43414079 single base substitution C T upstream_gene_variant MELA-AU 22 43415466 43415466 single base substitution A G upstream_gene_variant ORCA-IN 22 43232216 43232216 single base substitution C G intron_variant ORCA-IN 22 43241530 43241530 single base substitution T A intron_variant ORCA-IN 22 43259453 43259453 single base substitution G T intron_variant ORCA-IN 22 43270348 43270348 deletion of <=200bp G - intron_variant ORCA-IN 22 43274075 43274075 single base substitution C T intron_variant ORCA-IN 22 43274075 43274075 single base substitution C T upstream_gene_variant ORCA-IN 22 43280531 43280531 single base substitution C A missense_variant D216Y 646G>T ORCA-IN 22 43297472 43297472 single base substitution C T intron_variant ORCA-IN 22 43298332 43298332 single base substitution C G intron_variant ORCA-IN 22 43317378 43317378 deletion of <=200bp G - intron_variant ORCA-IN 22 43334265 43334265 single base substitution G A intron_variant ORCA-IN 22 43350486 43350486 single base substitution C T intron_variant ORCA-IN 22 43351347 43351347 single base substitution C G intron_variant ORCA-IN 22 43384373 43384373 single base substitution G C intron_variant ORCA-IN 22 43385872 43385875 deletion of <=200bp AAAT - intron_variant ORCA-IN 22 43389584 43389584 single base substitution T G intron_variant ORCA-IN 22 43408214 43408214 single base substitution T A intron_variant OV-AU 22 43237904 43237904 single base substitution C G intron_variant OV-AU 22 43246739 43246739 single base substitution C T intron_variant OV-AU 22 43246740 43246740 single base substitution C T intron_variant OV-AU 22 43249962 43249962 single base substitution A C intron_variant OV-AU 22 43256865 43256865 single base substitution G C intron_variant OV-AU 22 43263808 43263808 single base substitution T G downstream_gene_variant OV-AU 22 43263808 43263808 single base substitution T G intron_variant OV-AU 22 43269273 43269273 single base substitution G T intron_variant OV-AU 22 43269624 43269624 single base substitution G T intron_variant OV-AU 22 43270037 43270037 single base substitution C T intron_variant OV-AU 22 43270806 43270806 single base substitution G A intron_variant OV-AU 22 43279421 43279421 single base substitution C T intron_variant OV-AU 22 43279449 43279449 single base substitution T C intron_variant OV-AU 22 43282618 43282618 single base substitution C T downstream_gene_variant OV-AU 22 43282618 43282618 single base substitution C T intron_variant OV-AU 22 43282779 43282779 single base substitution C T downstream_gene_variant OV-AU 22 43282779 43282779 single base substitution C T intron_variant OV-AU 22 43283362 43283362 single base substitution C T downstream_gene_variant OV-AU 22 43283362 43283362 single base substitution C T intron_variant OV-AU 22 43283663 43283663 single base substitution T G downstream_gene_variant OV-AU 22 43283663 43283663 single base substitution T G intron_variant OV-AU 22 43284261 43284261 single base substitution C G downstream_gene_variant OV-AU 22 43284261 43284261 single base substitution C G intron_variant OV-AU 22 43285595 43285595 single base substitution C T downstream_gene_variant OV-AU 22 43285595 43285595 single base substitution C T intron_variant OV-AU 22 43300157 43300157 single base substitution C T intron_variant OV-AU 22 43310653 43310653 single base substitution C G intron_variant OV-AU 22 43311471 43311471 single base substitution G T intron_variant OV-AU 22 43331009 43331009 single base substitution C T intron_variant OV-AU 22 43367187 43367187 single base substitution C A intron_variant OV-AU 22 43369194 43369194 single base substitution G A intron_variant OV-AU 22 43386618 43386618 single base substitution G A intron_variant OV-AU 22 43394415 43394415 single base substitution G A intron_variant OV-AU 22 43398299 43398299 single base substitution G T intron_variant OV-AU 22 43408824 43408824 single base substitution C T intron_variant OV-AU 22 43410755 43410755 single base substitution G A intron_variant PACA-AU 22 43233488 43233488 single base substitution G A intron_variant PACA-AU 22 43234283 43234283 single base substitution T C intron_variant PACA-AU 22 43234300 43234300 single base substitution T A intron_variant PACA-AU 22 43240173 43240173 single base substitution T G intron_variant PACA-AU 22 43247332 43247332 single base substitution G C intron_variant PACA-AU 22 43248739 43248739 single base substitution C G intron_variant PACA-AU 22 43266545 43266545 single base substitution A G 3_prime_UTR_variant PACA-AU 22 43266545 43266545 single base substitution A G downstream_gene_variant PACA-AU 22 43266545 43266545 single base substitution A G intron_variant PACA-AU 22 43272219 43272219 single base substitution G A synonymous_variant T383T 1149C>T PACA-AU 22 43272219 43272219 single base substitution G A synonymous_variant T424T 1272C>T PACA-AU 22 43272219 43272219 single base substitution G A upstream_gene_variant PACA-AU 22 43281657 43281657 single base substitution A T intron_variant PACA-AU 22 43289538 43289538 single base substitution G A 3_prime_UTR_variant PACA-AU 22 43289538 43289538 single base substitution G A downstream_gene_variant PACA-AU 22 43289538 43289538 single base substitution G A missense_variant R48W 142C>T PACA-AU 22 43293449 43293449 single base substitution C A intron_variant PACA-AU 22 43294066 43294066 single base substitution C T intron_variant PACA-AU 22 43311049 43311049 single base substitution T A intron_variant PACA-AU 22 43311858 43311858 single base substitution C T intron_variant PACA-AU 22 43311860 43311860 single base substitution C T intron_variant PACA-AU 22 43320034 43320034 single base substitution C T intron_variant PACA-AU 22 43320162 43320166 deletion of <=200bp GGGGG - intron_variant PACA-AU 22 43330571 43330571 single base substitution T C intron_variant PACA-AU 22 43334100 43334100 single base substitution C T intron_variant PACA-AU 22 43334392 43334392 single base substitution A G intron_variant PACA-AU 22 43339186 43339186 insertion of <=200bp - T intron_variant PACA-AU 22 43341165 43341165 single base substitution T C intron_variant PACA-AU 22 43342146 43342146 single base substitution C T intron_variant PACA-AU 22 43342146 43342146 single base substitution C T upstream_gene_variant PACA-AU 22 43348134 43348134 single base substitution G A intron_variant PACA-AU 22 43350033 43350033 single base substitution G A intron_variant PACA-AU 22 43358863 43358863 single base substitution C T intron_variant PACA-AU 22 43358863 43358863 single base substitution C T upstream_gene_variant PACA-AU 22 43361971 43361971 single base substitution A G intron_variant PACA-AU 22 43370314 43370314 single base substitution G A intron_variant PACA-AU 22 43371464 43371464 insertion of <=200bp - ATATATATATATATAT intron_variant PACA-AU 22 43378560 43378560 insertion of <=200bp - C intron_variant PACA-AU 22 43383696 43383696 single base substitution C T intron_variant PACA-AU 22 43389064 43389064 single base substitution C T intron_variant PACA-AU 22 43391606 43391606 single base substitution C T intron_variant PACA-AU 22 43398323 43398323 single base substitution G C 5_prime_UTR_variant PACA-AU 22 43398323 43398323 single base substitution G C intron_variant PACA-AU 22 43403464 43403464 single base substitution C G intron_variant PACA-CA 22 43227686 43227686 single base substitution A C downstream_gene_variant PACA-CA 22 43228757 43228757 single base substitution C T downstream_gene_variant PACA-CA 22 43231308 43231308 single base substitution C T downstream_gene_variant PACA-CA 22 43231714 43231714 single base substitution C G intron_variant PACA-CA 22 43237513 43237513 single base substitution T A intron_variant PACA-CA 22 43237613 43237613 single base substitution C G intron_variant PACA-CA 22 43239034 43239034 single base substitution C G intron_variant PACA-CA 22 43240610 43240610 single base substitution A T intron_variant PACA-CA 22 43241277 43241277 insertion of <=200bp - GTACTTTAA intron_variant PACA-CA 22 43245698 43245698 single base substitution C T intron_variant PACA-CA 22 43248345 43248345 single base substitution G A intron_variant PACA-CA 22 43248447 43248447 single base substitution C T intron_variant PACA-CA 22 43252961 43252961 single base substitution G C intron_variant PACA-CA 22 43257277 43257277 single base substitution G A intron_variant PACA-CA 22 43262212 43262212 single base substitution G A downstream_gene_variant PACA-CA 22 43262212 43262212 single base substitution G A intron_variant PACA-CA 22 43266853 43266853 single base substitution C T 3_prime_UTR_variant PACA-CA 22 43266853 43266853 single base substitution C T downstream_gene_variant PACA-CA 22 43266853 43266853 single base substitution C T intron_variant PACA-CA 22 43267304 43267304 single base substitution G C 3_prime_UTR_variant PACA-CA 22 43267304 43267304 single base substitution G C intron_variant PACA-CA 22 43269387 43269387 insertion of <=200bp - A intron_variant PACA-CA 22 43272253 43272253 single base substitution T C missense_variant N372S 1115A>G PACA-CA 22 43272253 43272253 single base substitution T C missense_variant N413S 1238A>G PACA-CA 22 43272253 43272253 single base substitution T C upstream_gene_variant PACA-CA 22 43279253 43279253 single base substitution C T intron_variant PACA-CA 22 43279730 43279730 single base substitution G A intron_variant PACA-CA 22 43289462 43289462 single base substitution C T downstream_gene_variant PACA-CA 22 43289462 43289462 single base substitution C T splice_donor_variant PACA-CA 22 43290865 43290865 single base substitution C A intron_variant PACA-CA 22 43295289 43295289 single base substitution A T intron_variant PACA-CA 22 43296270 43296270 single base substitution T A intron_variant PACA-CA 22 43301368 43301368 single base substitution G T intron_variant PACA-CA 22 43303908 43303908 single base substitution G A intron_variant PACA-CA 22 43304667 43304667 single base substitution C T intron_variant PACA-CA 22 43304841 43304841 single base substitution G A intron_variant PACA-CA 22 43311089 43311089 single base substitution G T intron_variant PACA-CA 22 43313104 43313104 single base substitution C T intron_variant PACA-CA 22 43313280 43313280 single base substitution C T intron_variant PACA-CA 22 43313883 43313883 single base substitution A C intron_variant PACA-CA 22 43314382 43314382 single base substitution A G intron_variant PACA-CA 22 43318181 43318181 single base substitution G C intron_variant PACA-CA 22 43319571 43319571 single base substitution C A intron_variant PACA-CA 22 43321173 43321173 single base substitution G A intron_variant PACA-CA 22 43324123 43324123 single base substitution T C intron_variant PACA-CA 22 43331276 43331276 single base substitution C G intron_variant PACA-CA 22 43337308 43337308 single base substitution A G intron_variant PACA-CA 22 43338436 43338436 insertion of <=200bp - GCCTAATCCAA intron_variant PACA-CA 22 43340196 43340196 single base substitution T A intron_variant PACA-CA 22 43345474 43345474 single base substitution G A intron_variant PACA-CA 22 43345474 43345474 single base substitution G A upstream_gene_variant PACA-CA 22 43346135 43346135 deletion of <=200bp T - intron_variant PACA-CA 22 43346135 43346135 deletion of <=200bp T - upstream_gene_variant PACA-CA 22 43346288 43346288 single base substitution G C intron_variant PACA-CA 22 43346288 43346288 single base substitution G C upstream_gene_variant PACA-CA 22 43348738 43348738 single base substitution G A intron_variant PACA-CA 22 43349283 43349283 single base substitution A T intron_variant PACA-CA 22 43351307 43351307 single base substitution A G intron_variant PACA-CA 22 43353601 43353601 single base substitution T C intron_variant PACA-CA 22 43357852 43357852 single base substitution A G intron_variant PACA-CA 22 43357852 43357852 single base substitution A G upstream_gene_variant PACA-CA 22 43360192 43360192 single base substitution G A intron_variant PACA-CA 22 43360192 43360192 single base substitution G A upstream_gene_variant PACA-CA 22 43363245 43363245 single base substitution C T intron_variant PACA-CA 22 43366759 43366759 single base substitution T C intron_variant PACA-CA 22 43368275 43368275 single base substitution G C intron_variant PACA-CA 22 43369121 43369121 single base substitution A G intron_variant PACA-CA 22 43375593 43375593 single base substitution A G intron_variant PACA-CA 22 43386092 43386092 single base substitution A G intron_variant PACA-CA 22 43386777 43386777 single base substitution G A intron_variant PACA-CA 22 43392837 43392838 deletion of <=200bp CA - intron_variant PACA-CA 22 43397036 43397036 single base substitution C T intron_variant PACA-CA 22 43397264 43397264 single base substitution C T intron_variant PACA-CA 22 43397930 43397939 deletion of <=200bp ACCCTGGCAA - intron_variant PACA-CA 22 43399757 43399757 single base substitution T C intron_variant PACA-CA 22 43399757 43399757 single base substitution T C upstream_gene_variant PACA-CA 22 43402387 43402387 single base substitution G A intron_variant PACA-CA 22 43402387 43402387 single base substitution G A upstream_gene_variant PACA-CA 22 43408166 43408168 deletion of <=200bp TAC - intron_variant PACA-CA 22 43408511 43408511 single base substitution G C intron_variant PACA-CA 22 43411444 43411444 single base substitution G A upstream_gene_variant PACA-CA 22 43412304 43412304 single base substitution T C upstream_gene_variant PACA-CA 22 43414545 43414545 deletion of <=200bp A - upstream_gene_variant PACA-CA 22 43414800 43414843 deletion of <=200bp GAGGAGGGTTCCACTTGGCTGCATTGCAGGCACAAAGAGAAGCC - upstream_gene_variant PACA-CA 22 43415138 43415138 single base substitution C T upstream_gene_variant PAEN-AU 22 43234309 43234309 single base substitution T C intron_variant PAEN-AU 22 43330920 43330920 single base substitution T C intron_variant PAEN-AU 22 43330923 43330923 single base substitution T C intron_variant PAEN-IT 22 43229832 43229832 single base substitution G C downstream_gene_variant PAEN-IT 22 43247737 43247737 single base substitution T C intron_variant PAEN-IT 22 43297677 43297677 single base substitution C T intron_variant PAEN-IT 22 43318142 43318142 single base substitution T A intron_variant PBCA-DE 22 43231819 43231820 deletion of <=200bp CA - intron_variant PBCA-DE 22 43240427 43240427 insertion of <=200bp - C intron_variant PBCA-DE 22 43245326 43245326 single base substitution T A intron_variant PBCA-DE 22 43259328 43259338 deletion of <=200bp AAAAAAAAAAG - intron_variant PBCA-DE 22 43261982 43261982 single base substitution T C downstream_gene_variant PBCA-DE 22 43261982 43261982 single base substitution T C intron_variant PBCA-DE 22 43298140 43298140 single base substitution A C intron_variant PBCA-DE 22 43302071 43302071 single base substitution T A intron_variant PBCA-DE 22 43303249 43303249 single base substitution T A intron_variant PBCA-DE 22 43303763 43303763 single base substitution G T intron_variant PBCA-DE 22 43304330 43304330 single base substitution T G intron_variant PBCA-DE 22 43316690 43316690 single base substitution C T intron_variant PBCA-DE 22 43328575 43328575 single base substitution A T intron_variant PBCA-DE 22 43334230 43334230 single base substitution G A intron_variant PBCA-DE 22 43341141 43341141 single base substitution G A intron_variant PBCA-DE 22 43365050 43365050 insertion of <=200bp - TCCATCCATCCA intron_variant PBCA-DE 22 43371461 43371461 single base substitution C T intron_variant PBCA-DE 22 43371507 43371507 single base substitution T A intron_variant PBCA-DE 22 43386043 43386044 deletion of <=200bp TA - intron_variant PBCA-DE 22 43401147 43401147 single base substitution C T intron_variant PBCA-DE 22 43401147 43401147 single base substitution C T upstream_gene_variant PBCA-DE 22 43406406 43406406 single base substitution T A intron_variant PBCA-DE 22 43408161 43408164 deletion of <=200bp ATAC - intron_variant PRAD-CA 22 43232264 43232264 single base substitution G A intron_variant PRAD-CA 22 43234307 43234307 single base substitution C T intron_variant PRAD-CA 22 43269815 43269815 single base substitution T C intron_variant PRAD-CA 22 43292406 43292406 single base substitution T G intron_variant PRAD-CA 22 43303228 43303228 single base substitution T C intron_variant PRAD-CA 22 43345043 43345043 single base substitution A C intron_variant PRAD-CA 22 43345043 43345043 single base substitution A C upstream_gene_variant PRAD-CA 22 43351645 43351645 single base substitution A G intron_variant PRAD-CA 22 43355487 43355487 single base substitution G A intron_variant PRAD-CA 22 43359783 43359783 single base substitution G C intron_variant PRAD-CA 22 43359783 43359783 single base substitution G C upstream_gene_variant PRAD-UK 22 43237901 43237901 single base substitution A T intron_variant PRAD-UK 22 43257783 43257803 deletion of <=200bp TTTTTTTTTTTTCTCGAGGCG - intron_variant PRAD-UK 22 43277820 43277820 single base substitution C T intron_variant PRAD-UK 22 43278319 43278319 single base substitution G A intron_variant PRAD-UK 22 43278337 43278337 single base substitution T C intron_variant PRAD-UK 22 43280705 43280705 single base substitution A G intron_variant PRAD-UK 22 43293169 43293169 single base substitution C T intron_variant PRAD-UK 22 43295642 43295642 single base substitution T C intron_variant PRAD-UK 22 43303823 43303823 single base substitution T G intron_variant PRAD-UK 22 43340613 43340613 single base substitution C A intron_variant PRAD-UK 22 43347387 43347387 deletion of <=200bp A - intron_variant PRAD-UK 22 43347387 43347387 deletion of <=200bp A - upstream_gene_variant PRAD-UK 22 43354821 43354821 single base substitution T C intron_variant PRAD-UK 22 43359222 43359222 single base substitution A T intron_variant PRAD-UK 22 43359222 43359222 single base substitution A T upstream_gene_variant PRAD-UK 22 43368099 43368099 single base substitution A C intron_variant PRAD-UK 22 43373509 43373509 single base substitution G C intron_variant PRAD-UK 22 43374103 43374103 single base substitution T G intron_variant PRAD-UK 22 43374327 43374327 single base substitution T C intron_variant PRAD-UK 22 43398508 43398508 single base substitution A T intron_variant PRAD-UK 22 43398508 43398508 single base substitution A T upstream_gene_variant PRAD-UK 22 43399126 43399126 single base substitution C T intron_variant PRAD-UK 22 43399126 43399126 single base substitution C T upstream_gene_variant PRAD-UK 22 43404518 43404518 single base substitution G A intron_variant PRAD-US 22 43267420 43267420 single base substitution G A intron_variant PRAD-US 22 43267420 43267420 single base substitution G A synonymous_variant R427R 1281C>T PRAD-US 22 43267420 43267420 single base substitution G A synonymous_variant R468R 1404C>T PRAD-US 22 43289513 43289513 single base substitution G A 3_prime_UTR_variant PRAD-US 22 43289513 43289513 single base substitution G A downstream_gene_variant PRAD-US 22 43289513 43289513 single base substitution G A missense_variant A56V 167C>T READ-US 22 43284694 43284694 single base substitution C A downstream_gene_variant READ-US 22 43284694 43284694 single base substitution C A missense_variant K188N 564G>T RECA-EU 22 43261888 43261888 single base substitution T C downstream_gene_variant RECA-EU 22 43261888 43261888 single base substitution T C intron_variant RECA-EU 22 43268862 43268862 single base substitution C T intron_variant RECA-EU 22 43284221 43284221 single base substitution A G downstream_gene_variant RECA-EU 22 43284221 43284221 single base substitution A G intron_variant RECA-EU 22 43308973 43308973 single base substitution T G intron_variant RECA-EU 22 43310696 43310696 single base substitution C A intron_variant RECA-EU 22 43314087 43314087 single base substitution C T intron_variant RECA-EU 22 43314623 43314623 single base substitution G T intron_variant RECA-EU 22 43333700 43333700 single base substitution C T intron_variant RECA-EU 22 43339759 43339759 single base substitution A C intron_variant RECA-EU 22 43345962 43345962 single base substitution A G intron_variant RECA-EU 22 43345962 43345962 single base substitution A G upstream_gene_variant RECA-EU 22 43353830 43353830 single base substitution T C intron_variant RECA-EU 22 43358970 43358970 single base substitution G A intron_variant RECA-EU 22 43358970 43358970 single base substitution G A upstream_gene_variant RECA-EU 22 43360109 43360109 single base substitution G A intron_variant RECA-EU 22 43360109 43360109 single base substitution G A upstream_gene_variant RECA-EU 22 43360110 43360110 single base substitution C T intron_variant RECA-EU 22 43360110 43360110 single base substitution C T upstream_gene_variant RECA-EU 22 43368811 43368811 single base substitution T C intron_variant RECA-EU 22 43371805 43371805 single base substitution T A intron_variant RECA-EU 22 43398918 43398918 single base substitution G A intron_variant RECA-EU 22 43398918 43398918 single base substitution G A upstream_gene_variant RECA-EU 22 43401571 43401571 single base substitution A T intron_variant RECA-EU 22 43401571 43401571 single base substitution A T upstream_gene_variant RECA-EU 22 43402675 43402675 single base substitution G C intron_variant RECA-EU 22 43402675 43402675 single base substitution G C upstream_gene_variant RECA-EU 22 43409852 43409852 single base substitution C G intron_variant RECA-EU 22 43410333 43410333 single base substitution C G intron_variant RECA-EU 22 43414800 43414800 single base substitution G T upstream_gene_variant SKCA-BR 22 43227657 43227657 single base substitution G A downstream_gene_variant SKCA-BR 22 43227682 43227682 single base substitution G A downstream_gene_variant SKCA-BR 22 43228205 43228205 single base substitution A G downstream_gene_variant SKCA-BR 22 43230559 43230559 single base substitution A T downstream_gene_variant SKCA-BR 22 43230560 43230560 single base substitution C T downstream_gene_variant SKCA-BR 22 43231610 43231610 single base substitution G A intron_variant SKCA-BR 22 43234281 43234281 insertion of <=200bp - CATAT intron_variant SKCA-BR 22 43236128 43236128 single base substitution A G intron_variant SKCA-BR 22 43237639 43237639 single base substitution G A intron_variant SKCA-BR 22 43240610 43240610 insertion of <=200bp - AC intron_variant SKCA-BR 22 43241531 43241531 insertion of <=200bp - CAA intron_variant SKCA-BR 22 43241557 43241557 single base substitution C A intron_variant SKCA-BR 22 43241913 43241913 single base substitution G A intron_variant SKCA-BR 22 43242469 43242469 single base substitution G A intron_variant SKCA-BR 22 43244723 43244723 single base substitution A T intron_variant SKCA-BR 22 43245474 43245474 insertion of <=200bp - ATGGCTTT intron_variant SKCA-BR 22 43245524 43245524 single base substitution G A intron_variant SKCA-BR 22 43246721 43246721 single base substitution G A intron_variant SKCA-BR 22 43247589 43247589 single base substitution C T intron_variant SKCA-BR 22 43251466 43251466 single base substitution T G intron_variant SKCA-BR 22 43253132 43253132 single base substitution C T intron_variant SKCA-BR 22 43253414 43253414 single base substitution C A intron_variant SKCA-BR 22 43254093 43254093 single base substitution G A intron_variant SKCA-BR 22 43255701 43255701 single base substitution A T intron_variant SKCA-BR 22 43258854 43258854 single base substitution T C intron_variant SKCA-BR 22 43259172 43259172 single base substitution T C intron_variant SKCA-BR 22 43261975 43261979 deletion of <=200bp ATTTC - downstream_gene_variant SKCA-BR 22 43261975 43261979 deletion of <=200bp ATTTC - intron_variant SKCA-BR 22 43261982 43261982 single base substitution T C downstream_gene_variant SKCA-BR 22 43261982 43261982 single base substitution T C intron_variant SKCA-BR 22 43261994 43261998 deletion of <=200bp CCTTT - downstream_gene_variant SKCA-BR 22 43261994 43261998 deletion of <=200bp CCTTT - intron_variant SKCA-BR 22 43261998 43261998 single base substitution T C downstream_gene_variant SKCA-BR 22 43261998 43261998 single base substitution T C intron_variant SKCA-BR 22 43263255 43263255 single base substitution G A downstream_gene_variant SKCA-BR 22 43263255 43263255 single base substitution G A intron_variant SKCA-BR 22 43265031 43265031 single base substitution G A downstream_gene_variant SKCA-BR 22 43265031 43265031 single base substitution G A intron_variant SKCA-BR 22 43266028 43266028 single base substitution T C 3_prime_UTR_variant SKCA-BR 22 43266028 43266028 single base substitution T C downstream_gene_variant SKCA-BR 22 43266028 43266028 single base substitution T C intron_variant SKCA-BR 22 43266045 43266045 single base substitution A C 3_prime_UTR_variant SKCA-BR 22 43266045 43266045 single base substitution A C downstream_gene_variant SKCA-BR 22 43266045 43266045 single base substitution A C intron_variant SKCA-BR 22 43272840 43272840 single base substitution G A intron_variant SKCA-BR 22 43272840 43272840 single base substitution G A upstream_gene_variant SKCA-BR 22 43273883 43273883 single base substitution G A intron_variant SKCA-BR 22 43273883 43273883 single base substitution G A upstream_gene_variant SKCA-BR 22 43275026 43275026 single base substitution C T intron_variant SKCA-BR 22 43275026 43275026 single base substitution C T upstream_gene_variant SKCA-BR 22 43275485 43275485 single base substitution G A intron_variant SKCA-BR 22 43275485 43275485 single base substitution G A upstream_gene_variant SKCA-BR 22 43278895 43278895 single base substitution T G intron_variant SKCA-BR 22 43279392 43279392 single base substitution A G intron_variant SKCA-BR 22 43279531 43279531 single base substitution T C intron_variant SKCA-BR 22 43282421 43282421 insertion of <=200bp - TGTAG downstream_gene_variant SKCA-BR 22 43282421 43282421 insertion of <=200bp - TGTAG intron_variant SKCA-BR 22 43285378 43285378 insertion of <=200bp - TTACACACACACA downstream_gene_variant SKCA-BR 22 43285378 43285378 insertion of <=200bp - TTACACACACACA intron_variant SKCA-BR 22 43286010 43286010 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 22 43286010 43286010 insertion of <=200bp - CT intron_variant SKCA-BR 22 43292348 43292406 deletion of <=200bp GTCACTCTTTCTTACTGCTAAGTAGTATTCGATTGTGTAGTTATGCCACTATCAGAAGT - intron_variant SKCA-BR 22 43293189 43293189 single base substitution C A intron_variant SKCA-BR 22 43294062 43294062 single base substitution A G intron_variant SKCA-BR 22 43296317 43296317 single base substitution C T intron_variant SKCA-BR 22 43306017 43306017 single base substitution G A intron_variant SKCA-BR 22 43307323 43307323 single base substitution G A intron_variant SKCA-BR 22 43308555 43308555 single base substitution T C intron_variant SKCA-BR 22 43308572 43308572 single base substitution C T intron_variant SKCA-BR 22 43309473 43309473 single base substitution G A intron_variant SKCA-BR 22 43309486 43309489 deletion of <=200bp CAAA - intron_variant SKCA-BR 22 43310258 43310258 single base substitution A T intron_variant SKCA-BR 22 43312457 43312457 single base substitution G A intron_variant SKCA-BR 22 43312925 43312925 single base substitution G A intron_variant SKCA-BR 22 43313312 43313312 single base substitution A G intron_variant SKCA-BR 22 43313629 43313629 single base substitution C T intron_variant SKCA-BR 22 43315802 43315804 deletion of <=200bp AAG - intron_variant SKCA-BR 22 43316103 43316103 single base substitution G A intron_variant SKCA-BR 22 43317568 43317568 single base substitution A C intron_variant SKCA-BR 22 43331105 43331105 single base substitution T G intron_variant SKCA-BR 22 43335134 43335134 single base substitution G A intron_variant SKCA-BR 22 43335662 43335662 single base substitution G A intron_variant SKCA-BR 22 43336465 43336465 single base substitution C T intron_variant SKCA-BR 22 43336645 43336645 single base substitution A C intron_variant SKCA-BR 22 43338129 43338129 single base substitution C T intron_variant SKCA-BR 22 43341102 43341103 deletion of <=200bp CA - intron_variant SKCA-BR 22 43347398 43347398 single base substitution T C intron_variant SKCA-BR 22 43347398 43347398 single base substitution T C upstream_gene_variant SKCA-BR 22 43354285 43354285 single base substitution G A intron_variant SKCA-BR 22 43356488 43356488 single base substitution A C intron_variant SKCA-BR 22 43356488 43356488 single base substitution A C upstream_gene_variant SKCA-BR 22 43357808 43357808 single base substitution G A intron_variant SKCA-BR 22 43357808 43357808 single base substitution G A upstream_gene_variant SKCA-BR 22 43358189 43358189 insertion of <=200bp - CTT intron_variant SKCA-BR 22 43358189 43358189 insertion of <=200bp - CTT upstream_gene_variant SKCA-BR 22 43358777 43358777 insertion of <=200bp - TGGGCG intron_variant SKCA-BR 22 43358777 43358777 insertion of <=200bp - TGGGCG upstream_gene_variant SKCA-BR 22 43358786 43358786 single base substitution G C intron_variant SKCA-BR 22 43358786 43358786 single base substitution G C upstream_gene_variant SKCA-BR 22 43360599 43360599 single base substitution T G intron_variant SKCA-BR 22 43360599 43360599 single base substitution T G upstream_gene_variant SKCA-BR 22 43365645 43365645 single base substitution C G intron_variant SKCA-BR 22 43367842 43367846 deletion of <=200bp CGGGA - intron_variant SKCA-BR 22 43367892 43367892 single base substitution A G intron_variant SKCA-BR 22 43367905 43367905 single base substitution C A intron_variant SKCA-BR 22 43367907 43367907 single base substitution T C intron_variant SKCA-BR 22 43369039 43369039 single base substitution T G intron_variant SKCA-BR 22 43370168 43370168 single base substitution C T intron_variant SKCA-BR 22 43370484 43370484 single base substitution T C intron_variant SKCA-BR 22 43371617 43371617 insertion of <=200bp - CT intron_variant SKCA-BR 22 43373966 43373966 single base substitution G A intron_variant SKCA-BR 22 43375439 43375439 single base substitution G A intron_variant SKCA-BR 22 43377643 43377643 single base substitution G A intron_variant SKCA-BR 22 43377653 43377653 single base substitution T G intron_variant SKCA-BR 22 43380423 43380423 single base substitution C T intron_variant SKCA-BR 22 43381904 43381904 single base substitution T C intron_variant SKCA-BR 22 43384189 43384189 single base substitution A T intron_variant SKCA-BR 22 43385577 43385577 single base substitution T G intron_variant SKCA-BR 22 43386021 43386059 deletion of <=200bp TACACACATATGTATATATATGTATATATATATATATAC - intron_variant SKCA-BR 22 43386470 43386470 single base substitution G A intron_variant SKCA-BR 22 43386835 43386836 deletion of <=200bp TC - intron_variant SKCA-BR 22 43386836 43386837 deletion of <=200bp CT - intron_variant SKCA-BR 22 43387670 43387670 single base substitution G A intron_variant SKCA-BR 22 43387818 43387821 deletion of <=200bp CAAA - intron_variant SKCA-BR 22 43387986 43387986 single base substitution C A intron_variant SKCA-BR 22 43387996 43387996 single base substitution C A intron_variant SKCA-BR 22 43388015 43388015 single base substitution T C intron_variant SKCA-BR 22 43392225 43392225 insertion of <=200bp - CA intron_variant SKCA-BR 22 43392901 43392901 single base substitution C T intron_variant SKCA-BR 22 43395242 43395242 single base substitution T C intron_variant SKCA-BR 22 43400928 43400928 single base substitution G A intron_variant SKCA-BR 22 43400928 43400928 single base substitution G A upstream_gene_variant SKCA-BR 22 43402319 43402319 single base substitution G A intron_variant SKCA-BR 22 43402319 43402319 single base substitution G A upstream_gene_variant SKCA-BR 22 43405216 43405216 single base substitution G A intron_variant SKCA-BR 22 43405869 43405877 deletion of <=200bp CTATTTTTT - intron_variant SKCA-BR 22 43408164 43408164 single base substitution C A intron_variant SKCA-BR 22 43408982 43408982 single base substitution G A intron_variant SKCA-BR 22 43411315 43411315 single base substitution G A upstream_gene_variant SKCA-BR 22 43412490 43412490 single base substitution T C upstream_gene_variant SKCA-BR 22 43415095 43415095 single base substitution C T upstream_gene_variant SKCA-BR 22 43415247 43415255 deletion of <=200bp CAAAAAAAA - upstream_gene_variant SKCM-US 22 43230294 43230294 single base substitution G A downstream_gene_variant SKCM-US 22 43231471 43231471 single base substitution G A 3_prime_UTR_variant SKCM-US 22 43243540 43243540 single base substitution A C intron_variant SKCM-US 22 43272327 43272327 single base substitution G A synonymous_variant Y347Y 1041C>T SKCM-US 22 43272327 43272327 single base substitution G A synonymous_variant Y388Y 1164C>T SKCM-US 22 43272327 43272327 single base substitution G A upstream_gene_variant SKCM-US 22 43280453 43280453 single base substitution G A missense_variant R242C 724C>T SKCM-US 22 43287005 43287005 single base substitution G A downstream_gene_variant SKCM-US 22 43287005 43287005 single base substitution G A missense_variant A134V 401C>T SKCM-US 22 43287041 43287041 single base substitution T C downstream_gene_variant SKCM-US 22 43287041 43287041 single base substitution T C missense_variant K122R 365A>G STAD-US 22 43227589 43227589 single base substitution T C downstream_gene_variant STAD-US 22 43231437 43231437 single base substitution A G 3_prime_UTR_variant STAD-US 22 43231499 43231499 single base substitution A G splice_region_variant STAD-US 22 43267373 43267373 single base substitution G A intron_variant STAD-US 22 43267373 43267373 single base substitution G A missense_variant A443V 1328C>T STAD-US 22 43267373 43267373 single base substitution G A missense_variant A484V 1451C>T STAD-US 22 43272302 43272302 single base substitution C T missense_variant D356N 1066G>A STAD-US 22 43272302 43272302 single base substitution C T missense_variant D397N 1189G>A STAD-US 22 43272302 43272302 single base substitution C T upstream_gene_variant STAD-US 22 43273001 43273001 single base substitution C T intron_variant STAD-US 22 43273001 43273001 single base substitution C T synonymous_variant P348P 1044G>A STAD-US 22 43273001 43273001 single base substitution C T upstream_gene_variant STAD-US 22 43275116 43275116 single base substitution G A synonymous_variant D322D 966C>T STAD-US 22 43275116 43275116 single base substitution G A upstream_gene_variant STAD-US 22 43280459 43280459 single base substitution G A missense_variant R240C 718C>T STAD-US 22 43286998 43286998 single base substitution G A downstream_gene_variant STAD-US 22 43286998 43286998 single base substitution G A synonymous_variant D136D 408C>T STAD-US 22 43287156 43287156 single base substitution T C downstream_gene_variant STAD-US 22 43287156 43287156 single base substitution T C missense_variant M84V 250A>G STAD-US 22 43289531 43289531 single base substitution C T 3_prime_UTR_variant STAD-US 22 43289531 43289531 single base substitution C T downstream_gene_variant STAD-US 22 43289531 43289531 single base substitution C T missense_variant R50H 149G>A STAD-US 22 43289591 43289591 single base substitution C T 3_prime_UTR_variant STAD-US 22 43289591 43289591 single base substitution C T missense_variant R30Q 89G>A UCEC-US 22 43230255 43230255 single base substitution G A downstream_gene_variant UCEC-US 22 43231425 43231425 single base substitution G A 3_prime_UTR_variant UCEC-US 22 43231439 43231439 single base substitution G A 3_prime_UTR_variant UCEC-US 22 43272953 43272953 single base substitution G A intron_variant UCEC-US 22 43272953 43272953 single base substitution G A synonymous_variant F364F 1092C>T UCEC-US 22 43272953 43272953 single base substitution G A upstream_gene_variant UCEC-US 22 43278237 43278237 single base substitution G A stop_gained R287* 859C>T UCEC-US 22 43280514 43280514 single base substitution C T synonymous_variant Q221Q 663G>A UCEC-US 22 43284692 43284692 single base substitution T G downstream_gene_variant UCEC-US 22 43284692 43284692 single base substitution T G missense_variant K189T 566A>C UCEC-US 22 43284715 43284715 single base substitution G T downstream_gene_variant UCEC-US 22 43284715 43284715 single base substitution G T synonymous_variant S181S 543C>A UCEC-US 22 43287043 43287043 single base substitution G A downstream_gene_variant UCEC-US 22 43287043 43287043 single base substitution G A synonymous_variant H121H 363C>T UCEC-US 22 43289487 43289487 single base substitution G A 3_prime_UTR_variant UCEC-US 22 43289487 43289487 single base substitution G A downstream_gene_variant UCEC-US 22 43289487 43289487 single base substitution G A missense_variant R65C 193C>T UCEC-US 22 43289513 43289513 single base substitution G A 3_prime_UTR_variant UCEC-US 22 43289513 43289513 single base substitution G A downstream_gene_variant UCEC-US 22 43289513 43289513 single base substitution G A missense_variant A56V 167C>T UCEC-US 22 43289518 43289518 single base substitution C T 3_prime_UTR_variant UCEC-US 22 43289518 43289518 single base substitution C T downstream_gene_variant UCEC-US 22 43289518 43289518 single base substitution C T synonymous_variant A54A 162G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BR-4184-01 COSM4104588 c.1451C>T p.A484V Substitution - Missense 22:42871367-42871367 - TCGA-AY-6196-01 COSM3759237 c.207C>T p.L69L Substitution - coding silent 22:42893467-42893467 - CADO-ES1 COSM3062040 c.611C>T p.T204I Substitution - Missense 22:42884560-42884560 - CSCC-7-T COSM4552426 c.558G>T p.Q186H Substitution - Missense 22:42888694-42888694 - SNU-175 COSM3062021 c.1267G>A p.A423T Substitution - Missense 22:42876218-42876218 - TCGA-DD-A3A1-01 COSM4938315 c.603T>G p.V201V Substitution - coding silent 22:42888649-42888649 - TCGA-A2-A04P-01 COSM445079 c.1349G>C p.G450A Substitution - Missense 22:42871469-42871469 - 418 COSM1742401 c.29G>C p.G10A Substitution - Missense 22:42912052-42912052 - TCGA-AG-A002-01 COSM262717 c.327C>T p.F109F Substitution - coding silent 22:42891073-42891073 - PT50 COSM5937897 c.610-7C>T p.? Unknown 22:42884568-42884568 - TCGA-AA-A010-01 COSM283675 c.564G>T p.K188N Substitution - Missense 22:42888688-42888688 - PTC-54C COSM3759236 c.876G>A p.P292P Substitution - coding silent 22:42882214-42882214 - ESO-179 COSM1260809 c.916G>A p.A306T Substitution - Missense 22:42879160-42879160 - PCSI_0102_Pa_P_526 COSM216577 c.1238A>G p.N413S Substitution - Missense 22:42876247-42876247 - TCGA-A6-6653-01 COSM1416653 c.1434G>A p.P478P Substitution - coding silent 22:42871384-42871384 - LS411 COSM3062038 c.655A>G p.T219A Substitution - Missense 22:42884516-42884516 - TCGA-EE-A20C-06 COSM3555096 c.365A>G p.K122R Substitution - Missense 22:42891035-42891035 - TCGA-BR-8059-01 COSM4104592 c.718C>T p.R240C Substitution - Missense 22:42884453-42884453 - TCGA-CA-6718-01 COSM262717 c.327C>T p.F109F Substitution - coding silent 22:42891073-42891073 - CHEWS021 COSM4582451 c.1134C>T p.D378D Substitution - coding silent 22:42876905-42876905 - ESCC-184T COSM3939669 c.275G>A p.R92K Substitution - Missense 22:42891125-42891125 - sysucc-783T COSM4641181 c.1165G>A p.E389K Substitution - Missense 22:42876320-42876320 - pfg009T COSM1641566 c.708C>T p.F236F Substitution - coding silent 22:42884463-42884463 - T2197 COSM188173 c.149G>A p.R50H Substitution - Missense 22:42893525-42893525 - ACINAR05 COSM1734520 c.895C>T p.P299S Substitution - Missense 22:42882195-42882195 - YUROC COSM5393782 c.1247C>T p.S416L Substitution - Missense 22:42876238-42876238 - TCGA-AA-3672-01 COSM267098 c.463G>A p.A155T Substitution - Missense 22:42888789-42888789 - CSCC-27-T COSM4567271 c.633_634CC>TT p.(=) Unknown 22:42884537-42884538 - TCGA-HU-8602-01 COSM4104591 c.966C>T p.D322D Substitution - coding silent 22:42879110-42879110 - T3535 COSM4710793 c.633C>T p.S211S Substitution - coding silent 22:42884538-42884538 - PT44 COSM5927098 c.1432C>T p.P478S Substitution - Missense 22:42871386-42871386 - T3090 COSM4710794 c.190C>T p.R64W Substitution - Missense 22:42893484-42893484 - HCC061T COSM5805874 c.379G>T p.G127C Substitution - Missense 22:42891021-42891021 - TCGA-AP-A0LD-01 COSM1034834 c.162G>A p.A54A Substitution - coding silent 22:42893512-42893512 - TCGA-B8-4622-01 COSM479032 c.883G>T p.A295S Substitution - Missense 22:42882207-42882207 - PTC-28C COSM4156359 c.24C>T p.S8S Substitution - coding silent 22:42912057-42912057 - TCGA-BR-4370-01 COSM4104589 c.1189G>A p.D397N Substitution - Missense 22:42876296-42876296 - 8013222 COSM3390267 c.1272C>T p.T424T Substitution - coding silent 22:42876213-42876213 - TCGA-CM-5349-01 COSM1416654 c.1392G>A p.W464* Substitution - Nonsense 22:42871426-42871426 - PTC-7C COSM3759237 c.207C>T p.L69L Substitution - coding silent 22:42893467-42893467 - TCGA-EE-A2MJ-06 COSM3555094 c.724C>T p.R242C Substitution - Missense 22:42884447-42884447 - TCGA-GM-A3NW-01 COSM3842818 c.315G>C p.M105I Substitution - Missense 22:42891085-42891085 - TCGA-DR-A0ZM-01 COSM461070 c.205C>A p.L69I Substitution - Missense 22:42893469-42893469 - ESCC-107T COSM3939667 c.1051C>T p.P351S Substitution - Missense 22:42876988-42876988 - CSCC-31-T COSM4457098 c.1032C>T p.T344T Substitution - coding silent 22:42877007-42877007 - SC_9081 COSM5568156 c.1071A>G p.S357S Substitution - coding silent 22:42876968-42876968 - 0004_CRUK_PC_0004_T1_DNA COSM5422493 c.786-9C>T p.? Unknown 22:42882313-42882313 - TCGA-G4-6298-01 COSM3759237 c.207C>T p.L69L Substitution - coding silent 22:42893467-42893467 - J10_T COSM3964379 c.907-1G>C p.? Unknown 22:42879170-42879170 - CHC205T COSM3759237 c.207C>T p.L69L Substitution - coding silent 22:42893467-42893467 - TCGA-HF-7132-01 COSM188173 c.149G>A p.R50H Substitution - Missense 22:42893525-42893525 - TCGA-EJ-5530-01 COSM1034833 c.167C>T p.A56V Substitution - Missense 22:42893507-42893507 - LC_C27 COSM1190472 c.940C>T p.R314W Substitution - Missense 22:42879136-42879136 - TCGA-EB-A5UL-06 COSM3062023 c.1164C>T p.Y388Y Substitution - coding silent 22:42876321-42876321 - T636 COSM1416653 c.1434G>A p.P478P Substitution - coding silent 22:42871384-42871384 - TCGA-D1-A15X-01 COSM1034830 c.543C>A p.S181S Substitution - coding silent 22:42888709-42888709 - 35M COSM5582028 c.1202A>G p.D401G Substitution - Missense 22:42876283-42876283 - CSCC-31-T COSM4460907 c.1184C>T p.P395L Substitution - Missense 22:42876301-42876301 - LUAD-S01315 COSM345201 c.691G>C p.E231Q Substitution - Missense 22:42884480-42884480 - TCGA-AM-5821-01 COSM3759236 c.876G>A p.P292P Substitution - coding silent 22:42882214-42882214 - PTC-7C COSM3759236 c.876G>A p.P292P Substitution - coding silent 22:42882214-42882214 - Pat_70_A COSM5859519 c.1402C>T p.R468C Substitution - Missense 22:42871416-42871416 - HCC078T COSM5806402 c.416G>T p.R139L Substitution - Missense 22:42890984-42890984 - TCGA-G9-6348-01 COSM1130416 c.1404C>T p.R468R Substitution - coding silent 22:42871414-42871414 - 46M COSM5588559 c.1338C>T p.S446S Substitution - coding silent 22:42876147-42876147 - TCGA-F5-6814-01 COSM283675 c.564G>T p.K188N Substitution - Missense 22:42888688-42888688 - TCGA-BR-8680-01 COSM4104595 c.89G>A p.R30Q Substitution - Missense 22:42893585-42893585 - PCSI_0303_Pa_P_526 COSM3785570 c.217+1G>A p.? Unknown 22:42893456-42893456 - PCSI_0102_Pa_P COSM216577 c.1238A>G p.N413S Substitution - Missense 22:42876247-42876247 - TCGA-AA-3662-01 COSM3759237 c.207C>T p.L69L Substitution - coding silent 22:42893467-42893467 - TCGA-D8-A1XW-01 COSM1484279 c.249G>C p.W83C Substitution - Missense 22:42891151-42891151 - TCGA-DI-A0WH-01 COSM1034832 c.193C>T p.R65C Substitution - Missense 22:42893481-42893481 - TCGA-BR-6452-01 COSM4104593 c.408C>T p.D136D Substitution - coding silent 22:42890992-42890992 - TCGA-CG-5733-01 COSM4104590 c.1044G>A p.P348P Substitution - coding silent 22:42876995-42876995 - ESCC-069T COSM3939668 c.378C>T p.G126G Substitution - coding silent 22:42891022-42891022 - OSCC-GB_00970111 COSM4889669 c.646G>T p.D216Y Substitution - Missense 22:42884525-42884525 - CSCC-38-T COSM4461868 c.1223C>T p.S408F Substitution - Missense 22:42876262-42876262 - TCGA-AZ-4315-01 COSM1416656 c.1248G>A p.S416S Substitution - coding silent 22:42876237-42876237 - TCGA-AP-A0LE-01 COSM1034827 c.859C>T p.R287* Substitution - Nonsense 22:42882231-42882231 - TCGA-D1-A174-01 COSM1034828 c.663G>A p.Q221Q Substitution - coding silent 22:42884508-42884508 - SC_9008 COSM5572062 c.345G>A p.W115* Substitution - Nonsense 22:42891055-42891055 - TCGA-A6-6782-01 COSM3759237 c.207C>T p.L69L Substitution - coding silent 22:42893467-42893467 - TCGA-B2-5633-01 COSM479033 c.225G>C p.Q75H Substitution - Missense 22:42891175-42891175 - TCGA-AD-6889-01 COSM1416657 c.396G>A p.K132K Substitution - coding silent 22:42891004-42891004 - T3225 COSM262717 c.327C>T p.F109F Substitution - coding silent 22:42891073-42891073 - HCC71T COSM1616525 c.1300_1304delCTGTA p.L434fs*1 Deletion - Frameshift 22:42876181-42876185 - LIM2099 COSM4641181 c.1165G>A p.E389K Substitution - Missense 22:42876320-42876320 - TCGA-BS-A0UF-01 COSM1034826 c.1092C>T p.F364F Substitution - coding silent 22:42876947-42876947 - ESCC_158 COSM5646825 c.1335G>C p.L445L Substitution - coding silent 22:42876150-42876150 - PD12805a COSM1034834 c.162G>A p.A54A Substitution - coding silent 22:42893512-42893512 - TCGA-AZ-4315-01 COSM283675 c.564G>T p.K188N Substitution - Missense 22:42888688-42888688 - TCGA-AA-A010-01 COSM283676 c.786-1G>T p.? Unknown 22:42882305-42882305 - TCGA-F4-6570-01 COSM1416658 c.306C>A p.A102A Substitution - coding silent 22:42891094-42891094 - TCGA-CD-A4MG-01 COSM4104594 c.250A>G p.M84V Substitution - Missense 22:42891150-42891150 - Au1 COSM5597314 c.1089delC p.F364fs*22 Deletion - Frameshift 22:42876950-42876950 - HN_63080 COSM125098 c.538C>T p.P180S Substitution - Missense 22:42888714-42888714 - C391 COSM4441747 c.283G>T p.E95* Substitution - Nonsense 22:42891117-42891117 - NCI-H226 COSM1196697 c.1274C>T p.S425L Substitution - Missense 22:42876211-42876211 - 8031133 COSM3390268 c.142C>T p.R48W Substitution - Missense 22:42893532-42893532 - Pat_46_B COSM5859520 c.61G>A p.V21I Substitution - Missense 22:42893613-42893613 - TCGA-D1-A16X-01 COSM1034829 c.566A>C p.K189T Substitution - Missense 22:42888686-42888686 - 1N57-VS-1T57 COSM4977410 c.924G>C p.L308L Substitution - coding silent 22:42879152-42879152 - 392 COSM4428259 c.896C>T p.P299L Substitution - Missense 22:42882194-42882194 - TCGA-22-4607-01 COSM726935 c.672G>A p.E224E Substitution - coding silent 22:42884499-42884499 - H226 COSM1196697 c.1274C>T p.S425L Substitution - Missense 22:42876211-42876211 - Au4 COSM5604388 c.1252C>T p.P418S Substitution - Missense 22:42876233-42876233 - RKO COSM3062032 c.950A>G p.K317R Substitution - Missense 22:42879126-42879126 - TCGA-EE-A2ML-06 COSM3555095 c.401C>T p.A134V Substitution - Missense 22:42890999-42890999 - TCGA-CA-6717-01 COSM262717 c.327C>T p.F109F Substitution - coding silent 22:42891073-42891073 - LS411 COSM3062033 c.894G>A p.W298* Substitution - Nonsense 22:42882196-42882196 - Au4 COSM5604389 c.361C>T p.H121Y Substitution - Missense 22:42891039-42891039 - MedB-1 COSM5621454 c.290A>G p.H97R Substitution - Missense 22:42891110-42891110 - NB-1956 COSM1286947 c.155A>G p.E52G Substitution - Missense 22:42893519-42893519 - C658 COSM4443444 c.1093G>A p.E365K Substitution - Missense 22:42876946-42876946 - TCGA-22-4595-01 COSM726934 c.29G>A p.G10E Substitution - Missense 22:42912052-42912052 - TCGA-AM-5821-01 COSM3759237 c.207C>T p.L69L Substitution - coding silent 22:42893467-42893467 - ESCC_BICR_005T COSM5439147 c.544C>T p.L182F Substitution - Missense 22:42888708-42888708 - TCGA-D1-A103-01 COSM1034831 c.363C>T p.H121H Substitution - coding silent 22:42891037-42891037 - T3174 COSM4710792 c.1120G>A p.V374I Substitution - Missense 22:42876919-42876919 - TCGA-AZ-4615-01 COSM3759237 c.207C>T p.L69L Substitution - coding silent 22:42893467-42893467 - ESCC-235T COSM1034826 c.1092C>T p.F364F Substitution - coding silent 22:42876947-42876947 - Au10 COSM5598602 c.774C>T p.S258S Substitution - coding silent 22:42884397-42884397 - TCGA-B5-A11E-01 COSM1034833 c.167C>T p.A56V Substitution - Missense 22:42893507-42893507 - PTC-28C COSM3759237 c.207C>T p.L69L Substitution - coding silent 22:42893467-42893467 - 462 COSM4436838 c.488G>T p.C163F Substitution - Missense 22:42888764-42888764 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.162874;Hs.162877 22q13.2-q13.33 604960 2413136|CGAP|BC008037|C/T|coding|Leu69Leu|428|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A IntronicSNV . c.1-100086G>T 22 43408172 PIA C A Missense p.R245L c.734G>T 22 43280443 CM C A Nonsense p.E12* c.34G>T 22 43308053 HNSC C G Missense p.E402Q c.1204G>C 22 43272287 HNSC C G Missense p.G450A c.1349G>C 22 43267475 BRCA C G Missense p.Q331H c.993G>C 22 43275089 BRCA C G Missense p.Q75H c.225G>C 22 43287181 RCCC C G Missense p.W83C c.249G>C 22 43287157 BRCA C T IntronicSNV . c.61-6954G>A 22 43296573 CLL C T Missense p.A306T c.916G>A 22 43275166 ESCA C T Missense p.D369N c.1105G>A 22 43272940 HNSC C T Missense p.D397N c.1189G>A 22 43272302 STAD C T Missense p.G10E c.29G>A 22 43308058 LUSC C T Synonymous p.A54A c.162G>A 22 43289518 UCEC C T Synonymous p.E224E c.672G>A 22 43280505 LUSC C T Synonymous p.Q221Q c.663G>A 22 43280514 UCEC G A 3-UTRSNV . c.1458+75C>T 22 43267291 CM G A IntronicSNV . c.1-49458C>T 22 43357544 CLL G A Missense p.A134V c.401C>T 22 43287005 CM G A Missense p.A56V c.167C>T 22 43289513 PRAD G A Missense p.P180S c.538C>T 22 43284720 HNSC G A Missense p.R242C c.724C>T 22 43280453 CM G A Missense p.R65C c.193C>T 22 43289487 UCEC G A Missense p.T344I c.1031C>T 22 43273014 CM G A Missense p.T370M c.1109C>T 22 43272936 LUAD G A Nonsense p.R287* c.859C>T 22 43278237 UCEC G A Nonsense p.R310* c.928C>T 22 43275154 HNSC G A Synonymous p.F236F c.708C>T 22 43280469 STAD G A Synonymous p.R468R c.1404C>T 22 43267420 PRAD GG AT Missense p.R432W c.1293_1294delinsAT 22 43272197 CM T C Missense p.E52G c.155A>G 22 43289525 NB T C Missense p.K122R c.365A>G 22 43287041 CM T C Missense p.N413S c.1238A>G 22 43272253 PAAD