Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 4 25253958 25253958 + Nonsense_Mutation SNP C C A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 g.chr4:25253958C>A c.284C>A c.(283-285)tCa>tAa p.S95* BLCA 4 25254052 25254052 + Silent SNP C C T TCGA-K4-AAQO-01A-11D-A38G-08 TCGA-K4-AAQO-10A-01D-A38J-08 g.chr4:25254052C>T c.378C>T c.(376-378)atC>atT p.I126I BLCA 4 25256724 25256724 + Missense_Mutation SNP C C G TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr4:25256724C>G c.461C>G c.(460-462)cCt>cGt p.P154R BLCA 4 25260800 25260800 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 g.chr4:25260800A>G c.898A>G c.(898-900)Atc>Gtc p.I300V BRCA 4 25256819 25256819 + Missense_Mutation SNP T T C TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 g.chr4:25256819T>C c.556T>C c.(556-558)Tac>Cac p.Y186H BRCA 4 25258265 25258265 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chr4:25258265G>A c.725G>A c.(724-726)aGa>aAa p.R242K BRCA 4 25258269 25258269 + Missense_Mutation SNP G G C TCGA-BH-A0DK-01A-21W-A071-09 TCGA-BH-A0DK-11A-13W-A100-09 g.chr4:25258269G>C c.729G>C c.(727-729)aaG>aaC p.K243N BRCA 4 25278651 25278651 + Nonsense_Mutation SNP C C T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 g.chr4:25278651C>T c.1288C>T c.(1288-1290)Cag>Tag p.Q430* COAD 4 25256744 25256744 + Nonsense_Mutation SNP A A T TCGA-AZ-6608-01A-11D-1835-10 TCGA-AZ-6608-11A-01D-1835-10 g.chr4:25256744A>T c.481A>T c.(481-483)Aaa>Taa p.K161* COAD 4 25258231 25258231 + Missense_Mutation SNP A A G TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr4:25258231A>G c.691A>G c.(691-693)Aag>Gag p.K231E COAD 4 25258232 25258232 + Missense_Mutation SNP A A G TCGA-DM-A1HA-01A-11D-A152-10 TCGA-DM-A1HA-10A-01D-A152-10 g.chr4:25258232A>G c.692A>G c.(691-693)aAg>aGg p.K231R COAD 4 25258233 25258233 + Missense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:25258233G>T c.693G>T c.(691-693)aaG>aaT p.K231N COAD 4 25258286 25258286 + Missense_Mutation SNP T T C TCGA-AA-3712-01A-21D-1719-10 TCGA-AA-3712-11A-01D-1719-10 g.chr4:25258286T>C c.746T>C c.(745-747)cTc>cCc p.L249P COAD 4 25262148 25262148 + Missense_Mutation SNP A A G TCGA-A6-5659-01A-01D-1650-10 TCGA-A6-5659-11A-01D-1650-10 g.chr4:25262148A>G c.913A>G c.(913-915)Agg>Ggg p.R305G COAD 4 25262148 25262148 + Missense_Mutation SNP A A G TCGA-A6-6648-01A-11D-1771-10 TCGA-A6-6648-10A-01D-1771-10 g.chr4:25262148A>G c.913A>G c.(913-915)Agg>Ggg p.R305G COAD 4 25262148 25262148 + Missense_Mutation SNP A A G TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr4:25262148A>G c.913A>G c.(913-915)Agg>Ggg p.R305G COAD 4 25265389 25265389 + Silent SNP T T C TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr4:25265389T>C c.996T>C c.(994-996)gaT>gaC p.D332D COAD 4 25265402 25265402 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:25265402C>T c.1009C>T c.(1009-1011)Ctt>Ttt p.L337F COAD 4 25270095 25270095 + Missense_Mutation SNP C C G TCGA-A6-5656-01A-21D-1835-10 TCGA-A6-5656-10A-01D-1835-10 g.chr4:25270095C>G c.1109C>G c.(1108-1110)gCa>gGa p.A370G COAD 4 25278772 25278772 + Missense_Mutation SNP C C T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr4:25278772C>T c.1409C>T c.(1408-1410)aCt>aTt p.T470I COADREAD 4 25253965 25253965 + Missense_Mutation SNP G G T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr4:25253965G>T c.291G>T c.(289-291)atG>atT p.M97I COADREAD 4 25254052 25254052 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:25254052C>T c.378C>T c.(376-378)atC>atT p.I126I COADREAD 4 25256744 25256744 + Nonsense_Mutation SNP A A T TCGA-AZ-6608-01A-11D-1835-10 TCGA-AZ-6608-11A-01D-1835-10 g.chr4:25256744A>T c.481A>T c.(481-483)Aaa>Taa p.K161* COADREAD 4 25258231 25258231 + Missense_Mutation SNP A A G TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr4:25258231A>G c.691A>G c.(691-693)Aag>Gag p.K231E COADREAD 4 25258231 25258231 + Nonsense_Mutation SNP A A T TCGA-DY-A1DG-01A-11D-A152-10 TCGA-DY-A1DG-10A-01D-A152-10 g.chr4:25258231A>T c.691A>T c.(691-693)Aag>Tag p.K231* COADREAD 4 25258232 25258232 + Missense_Mutation SNP A A G TCGA-DM-A1HA-01A-11D-A152-10 TCGA-DM-A1HA-10A-01D-A152-10 g.chr4:25258232A>G c.692A>G c.(691-693)aAg>aGg p.K231R COADREAD 4 25258233 25258233 + Missense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:25258233G>T c.693G>T c.(691-693)aaG>aaT p.K231N COADREAD 4 25258286 25258286 + Missense_Mutation SNP T T C TCGA-AA-3712-01A-21D-1719-10 TCGA-AA-3712-11A-01D-1719-10 g.chr4:25258286T>C c.746T>C c.(745-747)cTc>cCc p.L249P COADREAD 4 25262148 25262148 + Missense_Mutation SNP A A G TCGA-A6-5659-01A-01D-1650-10 TCGA-A6-5659-11A-01D-1650-10 g.chr4:25262148A>G c.913A>G c.(913-915)Agg>Ggg p.R305G COADREAD 4 25262148 25262148 + Missense_Mutation SNP A A G TCGA-A6-6648-01A-11D-1771-10 TCGA-A6-6648-10A-01D-1771-10 g.chr4:25262148A>G c.913A>G c.(913-915)Agg>Ggg p.R305G COADREAD 4 25262148 25262148 + Missense_Mutation SNP A A G TCGA-AG-3742-01A-11D-1657-10 TCGA-AG-3742-11A-01D-1657-10 g.chr4:25262148A>G c.913A>G c.(913-915)Agg>Ggg p.R305G COADREAD 4 25262148 25262148 + Missense_Mutation SNP A A G TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr4:25262148A>G c.913A>G c.(913-915)Agg>Ggg p.R305G COADREAD 4 25262150 25262150 + Missense_Mutation SNP G G T TCGA-CI-6622-01A-11D-1826-10 TCGA-CI-6622-10A-01D-1826-10 g.chr4:25262150G>T c.915G>T c.(913-915)agG>agT p.R305S COADREAD 4 25265389 25265389 + Silent SNP T T C TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr4:25265389T>C c.996T>C c.(994-996)gaT>gaC p.D332D COADREAD 4 25265402 25265402 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:25265402C>T c.1009C>T c.(1009-1011)Ctt>Ttt p.L337F COADREAD 4 25270095 25270095 + Missense_Mutation SNP C C G TCGA-A6-5656-01A-21D-1835-10 TCGA-A6-5656-10A-01D-1835-10 g.chr4:25270095C>G c.1109C>G c.(1108-1110)gCa>gGa p.A370G COADREAD 4 25278772 25278772 + Missense_Mutation SNP C C T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr4:25278772C>T c.1409C>T c.(1408-1410)aCt>aTt p.T470I ESCA 4 25254044 25254044 + Nonsense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 g.chr4:25254044G>T c.370G>T c.(370-372)Gaa>Taa p.E124* ESCA 4 25262150 25262150 + Missense_Mutation SNP G G T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 g.chr4:25262150G>T c.915G>T c.(913-915)agG>agT p.R305S GBMLGG 4 25258202 25258202 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:25258202C>T c.662C>T c.(661-663)gCg>gTg p.A221V GBMLGG 4 25258211 25258211 + Missense_Mutation SNP G G A TCGA-DH-5144-01A-01D-1468-08 TCGA-DH-5144-10A-01D-1468-08 g.chr4:25258211G>A c.671G>A c.(670-672)cGt>cAt p.R224H HNSC 4 25256888 25256888 + Splice_Site SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 g.chr4:25256888G>A c.e3+1 HNSC 4 25258218 25258218 + Silent SNP A A G TCGA-HD-7754-01A-11D-2078-08 TCGA-HD-7754-10A-01D-2078-08 g.chr4:25258218A>G c.678A>G c.(676-678)aaA>aaG p.K226K HNSC 4 25258233 25258233 + Silent SNP G G A TCGA-CR-7390-01A-11D-2012-08 TCGA-CR-7390-10A-01D-2013-08 g.chr4:25258233G>A c.693G>A c.(691-693)aaG>aaA p.K231K KIPAN 4 25235821 25235821 + Silent SNP C C A TCGA-P4-A5EB-01A-11D-A28G-10 TCGA-P4-A5EB-11A-11D-A28G-10 g.chr4:25235821C>A c.36C>A c.(34-36)tcC>tcA p.S12S KIRP 4 25235821 25235821 + Silent SNP C C A TCGA-P4-A5EB-01A-11D-A28G-10 TCGA-P4-A5EB-11A-11D-A28G-10 g.chr4:25235821C>A c.36C>A c.(34-36)tcC>tcA p.S12S LGG 4 25258202 25258202 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:25258202C>T c.662C>T c.(661-663)gCg>gTg p.A221V LGG 4 25258211 25258211 + Missense_Mutation SNP G G A TCGA-DH-5144-01A-01D-1468-08 TCGA-DH-5144-10A-01D-1468-08 g.chr4:25258211G>A c.671G>A c.(670-672)cGt>cAt p.R224H LIHC 4 25254053 25254053 + Missense_Mutation SNP T T C TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr4:25254053T>C c.379T>C c.(379-381)Tct>Cct p.S127P LIHC 4 25256736 25256736 + Missense_Mutation SNP T T C TCGA-DD-A3A1-01A-11D-A20W-10 TCGA-DD-A3A1-11A-11D-A20W-10 g.chr4:25256736T>C c.473T>C c.(472-474)cTc>cCc p.L158P LUAD 4 25256887 25256887 + Splice_Site SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 g.chr4:25256887G>T c.624G>T c.(622-624)aaG>aaT p.K208N LUAD 4 25262192 25262192 + Nonsense_Mutation SNP T T A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 g.chr4:25262192T>A c.957T>A c.(955-957)tgT>tgA p.C319* LUAD 4 25262206 25262206 + Missense_Mutation SNP A A C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 g.chr4:25262206A>C c.971A>C c.(970-972)gAc>gCc p.D324A LUSC 4 25260783 25260783 + Missense_Mutation SNP T T A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 g.chr4:25260783T>A c.881T>A c.(880-882)gTt>gAt p.V294D OV 4 25258233 25258233 + Silent SNP G G A TCGA-61-2092-01A-01W-0722-08 TCGA-61-2092-11A-01W-0722-08 g.chr4:25258233G>A c.693G>A c.(691-693)aaG>aaA p.K231K OV 4 25260711 25260711 + Frame_Shift_Del DEL T T - TCGA-09-1672-01A-01W-0633-09 TCGA-09-1672-10A-01W-0633-09 g.chr4:25260711delT c.809delT c.(808-810)cttfs p.L270fs OV 4 25262149 25262149 + Missense_Mutation SNP G G C TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 g.chr4:25262149G>C c.914G>C c.(913-915)aGg>aCg p.R305T OV 4 25270129 25270129 + Missense_Mutation SNP G G C TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 g.chr4:25270129G>C c.1143G>C c.(1141-1143)ttG>ttC p.L381F READ 4 25253965 25253965 + Missense_Mutation SNP G G T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr4:25253965G>T c.291G>T c.(289-291)atG>atT p.M97I READ 4 25254052 25254052 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:25254052C>T c.378C>T c.(376-378)atC>atT p.I126I READ 4 25258231 25258231 + Nonsense_Mutation SNP A A T TCGA-DY-A1DG-01A-11D-A152-10 TCGA-DY-A1DG-10A-01D-A152-10 g.chr4:25258231A>T c.691A>T c.(691-693)Aag>Tag p.K231* READ 4 25262148 25262148 + Missense_Mutation SNP A A G TCGA-AG-3742-01A-11D-1657-10 TCGA-AG-3742-11A-01D-1657-10 g.chr4:25262148A>G c.913A>G c.(913-915)Agg>Ggg p.R305G READ 4 25262150 25262150 + Missense_Mutation SNP G G T TCGA-CI-6622-01A-11D-1826-10 TCGA-CI-6622-10A-01D-1826-10 g.chr4:25262150G>T c.915G>T c.(913-915)agG>agT p.R305S SKCM 4 25256861 25256861 + Missense_Mutation SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr4:25256861C>T c.598C>T c.(598-600)Cat>Tat p.H200Y SKCM 4 25256861 25256861 + Missense_Mutation SNP C C T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr4:25256861C>T c.598C>T c.(598-600)Cat>Tat p.H200Y SKCM 4 25260689 25260689 + Missense_Mutation SNP T T G TCGA-EE-A2MH-06A-11D-A197-08 TCGA-EE-A2MH-10A-01D-A199-08 g.chr4:25260689T>G c.787T>G c.(787-789)Tac>Gac p.Y263D SKCM 4 25265404 25265404 + Silent SNP T T C TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 g.chr4:25265404T>C c.1011T>C c.(1009-1011)ctT>ctC p.L337L SKCM 4 25270159 25270159 + Silent SNP T T C TCGA-EE-A2MM-06A-11D-A196-08 TCGA-EE-A2MM-10A-01D-A198-08 g.chr4:25270159T>C c.1173T>C c.(1171-1173)ttT>ttC p.F391F SKCM 4 25278737 25278737 + Silent SNP T T C TCGA-EE-A180-06A-11D-A21A-08 TCGA-EE-A180-10B-01D-A21A-08 g.chr4:25278737T>C c.1374T>C c.(1372-1374)ggT>ggC p.G458G

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 4 25158580 25158580 single base substitution C T upstream_gene_variant BLCA-US 4 25160685 25160685 single base substitution G C upstream_gene_variant BLCA-US 4 25253958 25253958 single base substitution C A 5_prime_UTR_variant BLCA-US 4 25253958 25253958 single base substitution C A stop_gained S95* 284C>A BRCA-EU 4 25157894 25157894 single base substitution C T upstream_gene_variant BRCA-EU 4 25158172 25158172 deletion of <=200bp A - upstream_gene_variant BRCA-EU 4 25161156 25161156 single base substitution G T upstream_gene_variant BRCA-EU 4 25161608 25161608 single base substitution C T upstream_gene_variant BRCA-EU 4 25161643 25161643 single base substitution C T upstream_gene_variant BRCA-EU 4 25162392 25162392 single base substitution A T intron_variant BRCA-EU 4 25162427 25162427 single base substitution T G intron_variant BRCA-EU 4 25162754 25162755 deletion of <=200bp AA - intron_variant BRCA-EU 4 25164082 25164082 single base substitution T C downstream_gene_variant BRCA-EU 4 25164082 25164082 single base substitution T C intron_variant BRCA-EU 4 25167518 25167518 deletion of <=200bp T - downstream_gene_variant BRCA-EU 4 25167518 25167518 deletion of <=200bp T - intron_variant BRCA-EU 4 25168421 25168421 single base substitution G T intron_variant BRCA-EU 4 25170128 25170128 single base substitution T C intron_variant BRCA-EU 4 25170305 25170316 deletion of <=200bp GTCCTCTACAAA - intron_variant BRCA-EU 4 25172331 25172331 single base substitution G A intron_variant BRCA-EU 4 25173508 25173508 single base substitution G C intron_variant BRCA-EU 4 25175087 25175087 single base substitution C T intron_variant BRCA-EU 4 25175236 25175236 single base substitution G C intron_variant BRCA-EU 4 25175290 25175290 single base substitution G T intron_variant BRCA-EU 4 25175301 25175301 single base substitution G C intron_variant BRCA-EU 4 25175354 25175354 single base substitution C T intron_variant BRCA-EU 4 25176231 25176231 single base substitution C T intron_variant BRCA-EU 4 25176253 25176253 single base substitution G T intron_variant BRCA-EU 4 25176997 25176997 single base substitution C T intron_variant BRCA-EU 4 25181341 25181341 single base substitution T C intron_variant BRCA-EU 4 25182362 25182362 single base substitution T C intron_variant BRCA-EU 4 25183155 25183155 single base substitution C G intron_variant BRCA-EU 4 25184428 25184428 single base substitution G C intron_variant BRCA-EU 4 25185006 25185006 deletion of <=200bp T - intron_variant BRCA-EU 4 25185101 25185101 single base substitution A C intron_variant BRCA-EU 4 25186007 25186007 single base substitution C G intron_variant BRCA-EU 4 25186813 25186813 insertion of <=200bp - A intron_variant BRCA-EU 4 25188246 25188246 single base substitution G C intron_variant BRCA-EU 4 25188359 25188359 single base substitution G C intron_variant BRCA-EU 4 25189023 25189023 single base substitution G A intron_variant BRCA-EU 4 25190054 25190054 insertion of <=200bp - T intron_variant BRCA-EU 4 25191134 25191134 single base substitution G A intron_variant BRCA-EU 4 25192297 25192297 single base substitution G T intron_variant BRCA-EU 4 25192298 25192298 single base substitution A T intron_variant BRCA-EU 4 25192769 25192769 single base substitution C T intron_variant BRCA-EU 4 25196980 25196980 single base substitution C G intron_variant BRCA-EU 4 25197891 25197891 single base substitution A G intron_variant BRCA-EU 4 25197942 25197942 single base substitution C G intron_variant BRCA-EU 4 25199176 25199176 single base substitution C T exon_variant BRCA-EU 4 25199176 25199176 single base substitution C T intron_variant BRCA-EU 4 25200091 25200091 single base substitution G C exon_variant BRCA-EU 4 25200091 25200091 single base substitution G C intron_variant BRCA-EU 4 25201972 25201972 single base substitution T G exon_variant BRCA-EU 4 25201972 25201972 single base substitution T G intron_variant BRCA-EU 4 25202767 25202767 single base substitution A G downstream_gene_variant BRCA-EU 4 25202767 25202767 single base substitution A G intron_variant BRCA-EU 4 25203391 25203391 single base substitution G A downstream_gene_variant BRCA-EU 4 25203391 25203391 single base substitution G A intron_variant BRCA-EU 4 25203742 25203742 single base substitution A G downstream_gene_variant BRCA-EU 4 25203742 25203742 single base substitution A G intron_variant BRCA-EU 4 25205486 25205486 single base substitution G C downstream_gene_variant BRCA-EU 4 25205486 25205486 single base substitution G C intron_variant BRCA-EU 4 25207173 25207186 multiple base substitution (>=2bp and <=200bp) TGCTCTCGTTTGAG TGACTCTC downstream_gene_variant BRCA-EU 4 25207173 25207186 multiple base substitution (>=2bp and <=200bp) TGCTCTCGTTTGAG TGACTCTC intron_variant BRCA-EU 4 25208491 25208491 single base substitution T A intron_variant BRCA-EU 4 25209962 25209962 single base substitution A T intron_variant BRCA-EU 4 25211547 25211547 single base substitution G C intron_variant BRCA-EU 4 25212620 25212620 single base substitution C A intron_variant BRCA-EU 4 25214075 25214075 single base substitution G A intron_variant BRCA-EU 4 25214554 25214554 deletion of <=200bp C - intron_variant BRCA-EU 4 25219507 25219507 single base substitution C T intron_variant BRCA-EU 4 25221678 25221678 single base substitution G A intron_variant BRCA-EU 4 25222874 25222874 single base substitution T C intron_variant BRCA-EU 4 25223397 25223397 deletion of <=200bp T - intron_variant BRCA-EU 4 25224233 25224233 single base substitution G A intron_variant BRCA-EU 4 25224263 25224263 single base substitution G C intron_variant BRCA-EU 4 25225271 25225271 single base substitution C G intron_variant BRCA-EU 4 25225868 25225868 single base substitution C G intron_variant BRCA-EU 4 25227636 25227636 single base substitution G A intron_variant BRCA-EU 4 25231258 25231258 single base substitution A G intron_variant BRCA-EU 4 25231258 25231258 single base substitution A G upstream_gene_variant BRCA-EU 4 25231809 25231809 single base substitution C G intron_variant BRCA-EU 4 25231809 25231809 single base substitution C G upstream_gene_variant BRCA-EU 4 25233328 25233328 single base substitution G T intron_variant BRCA-EU 4 25233328 25233328 single base substitution G T upstream_gene_variant BRCA-EU 4 25234742 25234742 single base substitution C A intron_variant BRCA-EU 4 25234742 25234742 single base substitution C A upstream_gene_variant BRCA-EU 4 25234891 25234891 single base substitution C G intron_variant BRCA-EU 4 25234891 25234891 single base substitution C G upstream_gene_variant BRCA-EU 4 25235125 25235125 single base substitution G C intron_variant BRCA-EU 4 25235125 25235125 single base substitution G C upstream_gene_variant BRCA-EU 4 25235343 25235343 single base substitution G C intron_variant BRCA-EU 4 25235343 25235343 single base substitution G C upstream_gene_variant BRCA-EU 4 25235663 25235663 single base substitution C A 5_prime_UTR_variant BRCA-EU 4 25235663 25235663 single base substitution C A intron_variant BRCA-EU 4 25235664 25235664 single base substitution C A 5_prime_UTR_variant BRCA-EU 4 25235664 25235664 single base substitution C A intron_variant BRCA-EU 4 25235685 25235685 single base substitution C T 5_prime_UTR_variant BRCA-EU 4 25235685 25235685 single base substitution C T intron_variant BRCA-EU 4 25238246 25238246 single base substitution G A intron_variant BRCA-EU 4 25240862 25240862 single base substitution C T intron_variant BRCA-EU 4 25248177 25248177 single base substitution G A intron_variant BRCA-EU 4 25251930 25251930 single base substitution G C intron_variant BRCA-EU 4 25254785 25254785 deletion of <=200bp T - intron_variant BRCA-EU 4 25255171 25255171 single base substitution C G intron_variant BRCA-EU 4 25259546 25259546 single base substitution T G intron_variant BRCA-EU 4 25259868 25259868 single base substitution C G intron_variant BRCA-EU 4 25263034 25263034 single base substitution G C intron_variant BRCA-EU 4 25263235 25263235 single base substitution A T intron_variant BRCA-EU 4 25264178 25264179 deletion of <=200bp TC - intron_variant BRCA-EU 4 25264539 25264539 single base substitution C T intron_variant BRCA-EU 4 25267854 25267854 single base substitution C G intron_variant BRCA-EU 4 25268246 25268246 single base substitution G T intron_variant BRCA-EU 4 25268375 25268375 insertion of <=200bp - T intron_variant BRCA-EU 4 25272211 25272211 single base substitution A G intron_variant BRCA-EU 4 25273412 25273412 insertion of <=200bp - A intron_variant BRCA-EU 4 25274680 25274680 single base substitution G A intron_variant BRCA-EU 4 25276242 25276242 single base substitution C G intron_variant BRCA-EU 4 25277140 25277140 single base substitution G C intron_variant BRCA-EU 4 25279682 25279682 single base substitution A T 3_prime_UTR_variant BRCA-EU 4 25279682 25279682 single base substitution A T downstream_gene_variant BRCA-EU 4 25279694 25279694 single base substitution G A 3_prime_UTR_variant BRCA-EU 4 25279694 25279694 single base substitution G A downstream_gene_variant BRCA-EU 4 25279766 25279766 single base substitution A G 3_prime_UTR_variant BRCA-EU 4 25279766 25279766 single base substitution A G downstream_gene_variant BRCA-EU 4 25283652 25283652 single base substitution C T downstream_gene_variant BRCA-FR 4 25158262 25158262 single base substitution G A upstream_gene_variant BRCA-FR 4 25161643 25161643 single base substitution C T upstream_gene_variant BRCA-FR 4 25164082 25164082 single base substitution T C downstream_gene_variant BRCA-FR 4 25164082 25164082 single base substitution T C intron_variant BRCA-FR 4 25165495 25165495 single base substitution G A downstream_gene_variant BRCA-FR 4 25165495 25165495 single base substitution G A intron_variant BRCA-FR 4 25183155 25183155 single base substitution C G intron_variant BRCA-FR 4 25184318 25184318 single base substitution C G intron_variant BRCA-FR 4 25188246 25188246 single base substitution G C intron_variant BRCA-FR 4 25191493 25191493 single base substitution C T intron_variant BRCA-FR 4 25231809 25231809 single base substitution C G intron_variant BRCA-FR 4 25231809 25231809 single base substitution C G upstream_gene_variant BRCA-FR 4 25235343 25235343 single base substitution G C intron_variant BRCA-FR 4 25235343 25235343 single base substitution G C upstream_gene_variant BRCA-FR 4 25235664 25235664 single base substitution C A 5_prime_UTR_variant BRCA-FR 4 25235664 25235664 single base substitution C A intron_variant BRCA-FR 4 25240463 25240463 single base substitution A G intron_variant BRCA-FR 4 25263034 25263034 single base substitution G C intron_variant BRCA-FR 4 25274680 25274680 single base substitution G A intron_variant BRCA-FR 4 25285079 25285079 single base substitution A C downstream_gene_variant BRCA-UK 4 25176253 25176253 single base substitution G T intron_variant BRCA-UK 4 25193836 25193836 single base substitution G C intron_variant BRCA-UK 4 25197451 25197451 single base substitution G T intron_variant BRCA-UK 4 25249926 25249926 single base substitution C T intron_variant BRCA-US 4 25160722 25160722 single base substitution C A upstream_gene_variant BRCA-US 4 25256819 25256819 single base substitution T C missense_variant Y186H 556T>C BRCA-US 4 25256819 25256819 single base substitution T C missense_variant Y90H 268T>C BRCA-US 4 25258265 25258265 single base substitution G A missense_variant R146K 437G>A BRCA-US 4 25258265 25258265 single base substitution G A missense_variant R242K 725G>A BRCA-US 4 25258269 25258269 single base substitution G C missense_variant K147N 441G>C BRCA-US 4 25258269 25258269 single base substitution G C missense_variant K243N 729G>C BRCA-US 4 25278651 25278651 single base substitution C T stop_gained Q334* 1000C>T BRCA-US 4 25278651 25278651 single base substitution C T stop_gained Q430* 1288C>T BTCA-JP 4 25157701 25157701 single base substitution G T upstream_gene_variant BTCA-JP 4 25158358 25158358 single base substitution G A upstream_gene_variant BTCA-JP 4 25161902 25161902 single base substitution G A upstream_gene_variant BTCA-JP 4 25278636 25278636 single base substitution A T missense_variant I329F 985A>T BTCA-JP 4 25278636 25278636 single base substitution A T missense_variant I425F 1273A>T BTCA-JP 4 25278856 25278856 single base substitution T G 3_prime_UTR_variant CLLE-ES 4 25226940 25226940 single base substitution A G intron_variant CLLE-ES 4 25246035 25246035 single base substitution A G intron_variant CLLE-ES 4 25258203 25258203 single base substitution G A synonymous_variant A125A 375G>A CLLE-ES 4 25258203 25258203 single base substitution G A synonymous_variant A221A 663G>A CLLE-ES 4 25262491 25262492 deletion of <=200bp AT - intron_variant COAD-US 4 25158571 25158571 single base substitution C T upstream_gene_variant COAD-US 4 25235801 25235801 single base substitution G A intron_variant COAD-US 4 25235801 25235801 single base substitution G A missense_variant E6K 16G>A COAD-US 4 25258233 25258233 single base substitution G T missense_variant K135N 405G>T COAD-US 4 25258233 25258233 single base substitution G T missense_variant K231N 693G>T COAD-US 4 25262208 25262208 single base substitution C T missense_variant H229Y 685C>T COAD-US 4 25262208 25262208 single base substitution C T missense_variant H325Y 973C>T COAD-US 4 25265389 25265389 single base substitution T C synonymous_variant D236D 708T>C COAD-US 4 25265389 25265389 single base substitution T C synonymous_variant D332D 996T>C COAD-US 4 25265402 25265402 single base substitution C T missense_variant L241F 721C>T COAD-US 4 25265402 25265402 single base substitution C T missense_variant L337F 1009C>T COAD-US 4 25270095 25270095 single base substitution C G missense_variant A274G 821C>G COAD-US 4 25270095 25270095 single base substitution C G missense_variant A370G 1109C>G COCA-CN 4 25158358 25158358 single base substitution G A upstream_gene_variant COCA-CN 4 25158536 25158536 single base substitution G A upstream_gene_variant COCA-CN 4 25160767 25160767 single base substitution A C upstream_gene_variant COCA-CN 4 25262001 25262001 single base substitution C T intron_variant COCA-CN 4 25270121 25270121 single base substitution A C synonymous_variant R283R 847A>C COCA-CN 4 25270121 25270121 single base substitution A C synonymous_variant R379R 1135A>C EOPC-DE 4 25257360 25257360 single base substitution C T intron_variant EOPC-DE 4 25257525 25257525 single base substitution C T intron_variant EOPC-DE 4 25263357 25263357 single base substitution A G intron_variant EOPC-DE 4 25263358 25263358 single base substitution T A intron_variant EOPC-DE 4 25273119 25273119 single base substitution C T intron_variant ESAD-UK 4 25158112 25158112 single base substitution G A upstream_gene_variant ESAD-UK 4 25159420 25159420 single base substitution G T upstream_gene_variant ESAD-UK 4 25160900 25160900 single base substitution T C upstream_gene_variant ESAD-UK 4 25161289 25161289 single base substitution G A upstream_gene_variant ESAD-UK 4 25167205 25167205 single base substitution A C downstream_gene_variant ESAD-UK 4 25167205 25167205 single base substitution A C intron_variant ESAD-UK 4 25167715 25167715 single base substitution G C downstream_gene_variant ESAD-UK 4 25167715 25167715 single base substitution G C intron_variant ESAD-UK 4 25169364 25169364 single base substitution G A intron_variant ESAD-UK 4 25177434 25177434 single base substitution T C intron_variant ESAD-UK 4 25182606 25182606 single base substitution T C intron_variant ESAD-UK 4 25187313 25187313 single base substitution T C intron_variant ESAD-UK 4 25188195 25188195 single base substitution G A intron_variant ESAD-UK 4 25189506 25189506 single base substitution G A intron_variant ESAD-UK 4 25190488 25190488 single base substitution G A intron_variant ESAD-UK 4 25193334 25193334 single base substitution G T intron_variant ESAD-UK 4 25193724 25193724 single base substitution A C intron_variant ESAD-UK 4 25194800 25194800 single base substitution T A intron_variant ESAD-UK 4 25194954 25194954 single base substitution T G intron_variant ESAD-UK 4 25195993 25195993 single base substitution C T intron_variant ESAD-UK 4 25196269 25196269 single base substitution G A intron_variant ESAD-UK 4 25197852 25197852 single base substitution G A intron_variant ESAD-UK 4 25198139 25198139 single base substitution T C intron_variant ESAD-UK 4 25198911 25198911 single base substitution C A intron_variant ESAD-UK 4 25201742 25201742 single base substitution C G exon_variant ESAD-UK 4 25201742 25201742 single base substitution C G intron_variant ESAD-UK 4 25203540 25203540 single base substitution G A downstream_gene_variant ESAD-UK 4 25203540 25203540 single base substitution G A intron_variant ESAD-UK 4 25203554 25203554 insertion of <=200bp - A downstream_gene_variant ESAD-UK 4 25203554 25203554 insertion of <=200bp - A intron_variant ESAD-UK 4 25209493 25209494 deletion of <=200bp AC - intron_variant ESAD-UK 4 25211808 25211808 single base substitution G A intron_variant ESAD-UK 4 25213776 25213776 single base substitution C T intron_variant ESAD-UK 4 25213987 25213987 single base substitution C G intron_variant ESAD-UK 4 25216858 25216858 single base substitution C G intron_variant ESAD-UK 4 25216927 25216927 single base substitution A G intron_variant ESAD-UK 4 25220637 25220637 single base substitution G A intron_variant ESAD-UK 4 25221059 25221059 single base substitution A T intron_variant ESAD-UK 4 25221333 25221333 single base substitution A G intron_variant ESAD-UK 4 25221909 25221909 single base substitution T C intron_variant ESAD-UK 4 25222400 25222400 single base substitution T C intron_variant ESAD-UK 4 25224325 25224325 single base substitution T A intron_variant ESAD-UK 4 25225673 25225673 single base substitution C G intron_variant ESAD-UK 4 25227126 25227126 single base substitution T C intron_variant ESAD-UK 4 25231031 25231031 single base substitution G T intron_variant ESAD-UK 4 25231031 25231031 single base substitution G T upstream_gene_variant ESAD-UK 4 25236380 25236380 single base substitution A C intron_variant ESAD-UK 4 25236996 25236996 deletion of <=200bp T - intron_variant ESAD-UK 4 25237872 25237872 deletion of <=200bp T - intron_variant ESAD-UK 4 25237874 25237876 deletion of <=200bp AAT - intron_variant ESAD-UK 4 25238174 25238174 single base substitution C G intron_variant ESAD-UK 4 25238205 25238205 single base substitution A G intron_variant ESAD-UK 4 25240871 25240871 single base substitution C T intron_variant ESAD-UK 4 25241772 25241772 single base substitution A G intron_variant ESAD-UK 4 25243172 25243172 single base substitution C A intron_variant ESAD-UK 4 25246919 25246919 single base substitution C T intron_variant ESAD-UK 4 25246961 25246961 single base substitution G C intron_variant ESAD-UK 4 25248932 25248932 single base substitution T C intron_variant ESAD-UK 4 25253446 25253446 insertion of <=200bp - TTA intron_variant ESAD-UK 4 25253744 25253744 single base substitution C T intron_variant ESAD-UK 4 25253746 25253746 single base substitution C T intron_variant ESAD-UK 4 25253914 25253914 single base substitution C A intron_variant ESAD-UK 4 25255708 25255708 insertion of <=200bp - A intron_variant ESAD-UK 4 25256595 25256595 single base substitution A G intron_variant ESAD-UK 4 25256780 25256780 single base substitution T A missense_variant C173S 517T>A ESAD-UK 4 25256780 25256780 single base substitution T A missense_variant C77S 229T>A ESAD-UK 4 25259786 25259786 single base substitution T C intron_variant ESAD-UK 4 25259922 25259922 single base substitution C T intron_variant ESAD-UK 4 25263060 25263060 single base substitution T A intron_variant ESAD-UK 4 25268296 25268296 single base substitution C T intron_variant ESAD-UK 4 25271331 25271331 deletion of <=200bp T - intron_variant ESAD-UK 4 25271331 25271331 insertion of <=200bp - T intron_variant ESAD-UK 4 25271698 25271698 single base substitution A G intron_variant ESAD-UK 4 25275176 25275176 single base substitution G A intron_variant ESAD-UK 4 25279079 25279079 single base substitution A C 3_prime_UTR_variant ESAD-UK 4 25279079 25279079 single base substitution A C downstream_gene_variant ESAD-UK 4 25279121 25279121 single base substitution A G 3_prime_UTR_variant ESAD-UK 4 25279121 25279121 single base substitution A G downstream_gene_variant ESAD-UK 4 25279456 25279456 single base substitution T A 3_prime_UTR_variant ESAD-UK 4 25279456 25279456 single base substitution T A downstream_gene_variant ESAD-UK 4 25281568 25281568 insertion of <=200bp - CAAA downstream_gene_variant ESAD-UK 4 25282876 25282876 single base substitution A T downstream_gene_variant ESAD-UK 4 25283049 25283049 single base substitution A G downstream_gene_variant ESAD-UK 4 25284728 25284728 single base substitution G A downstream_gene_variant ESAD-UK 4 25285297 25285297 single base substitution T G downstream_gene_variant ESCA-CN 4 25262263 25262263 single base substitution T C intron_variant ESCA-CN 4 25270170 25270170 single base substitution T G stop_gained L299* 896T>G ESCA-CN 4 25270170 25270170 single base substitution T G stop_gained L395* 1184T>G KIRC-US 4 25160704 25160704 single base substitution T C upstream_gene_variant LAML-KR 4 25206747 25206747 single base substitution C T downstream_gene_variant LAML-KR 4 25206747 25206747 single base substitution C T intron_variant LAML-KR 4 25210788 25210788 single base substitution G A intron_variant LAML-KR 4 25240585 25240585 single base substitution C T intron_variant LICA-FR 4 25206745 25206745 single base substitution C T downstream_gene_variant LICA-FR 4 25206745 25206745 single base substitution C T intron_variant LICA-FR 4 25216914 25216914 single base substitution G A intron_variant LICA-FR 4 25254089 25254089 single base substitution C G missense_variant P139A 415C>G LICA-FR 4 25254089 25254089 single base substitution C G missense_variant P43A 127C>G LICA-FR 4 25270634 25270634 single base substitution A G intron_variant LIHC-US 4 25160667 25160667 single base substitution T G upstream_gene_variant LINC-JP 4 25158036 25158036 single base substitution A G upstream_gene_variant LINC-JP 4 25160597 25160597 single base substitution G C upstream_gene_variant LINC-JP 4 25194516 25194516 single base substitution T G intron_variant LINC-JP 4 25201614 25201614 single base substitution T C exon_variant LINC-JP 4 25201614 25201614 single base substitution T C intron_variant LINC-JP 4 25220594 25220594 single base substitution T G intron_variant LINC-JP 4 25235692 25235692 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant LINC-JP 4 25235692 25235692 single base substitution A G intron_variant LINC-JP 4 25246579 25246579 single base substitution T C intron_variant LINC-JP 4 25251123 25251123 single base substitution C T intron_variant LINC-JP 4 25257889 25257889 single base substitution G A intron_variant LINC-JP 4 25258388 25258388 single base substitution A G intron_variant LINC-JP 4 25262518 25262518 single base substitution T G intron_variant LINC-JP 4 25268143 25268143 single base substitution A T intron_variant LINC-JP 4 25268685 25268685 single base substitution C A intron_variant LINC-JP 4 25271973 25271973 single base substitution C T intron_variant LINC-JP 4 25278574 25278574 single base substitution A G intron_variant LIRI-JP 4 25158713 25158713 single base substitution C A upstream_gene_variant LIRI-JP 4 25159761 25159761 single base substitution C G upstream_gene_variant LIRI-JP 4 25161539 25161539 single base substitution G A upstream_gene_variant LIRI-JP 4 25164086 25164086 single base substitution T A downstream_gene_variant LIRI-JP 4 25164086 25164086 single base substitution T A intron_variant LIRI-JP 4 25168628 25168628 single base substitution G T intron_variant LIRI-JP 4 25169835 25169835 single base substitution A G intron_variant LIRI-JP 4 25171434 25171434 single base substitution A G intron_variant LIRI-JP 4 25173675 25173675 single base substitution G A intron_variant LIRI-JP 4 25174635 25174635 single base substitution T G intron_variant LIRI-JP 4 25176358 25176358 single base substitution G A intron_variant LIRI-JP 4 25178182 25178182 single base substitution T C intron_variant LIRI-JP 4 25179467 25179467 single base substitution T C intron_variant LIRI-JP 4 25180877 25180877 single base substitution A G intron_variant LIRI-JP 4 25185368 25185368 single base substitution C T intron_variant LIRI-JP 4 25195314 25195314 single base substitution G A intron_variant LIRI-JP 4 25200354 25200354 single base substitution A C exon_variant LIRI-JP 4 25200354 25200354 single base substitution A C intron_variant LIRI-JP 4 25202625 25202625 single base substitution T A downstream_gene_variant LIRI-JP 4 25202625 25202625 single base substitution T A intron_variant LIRI-JP 4 25203511 25203511 single base substitution C A downstream_gene_variant LIRI-JP 4 25203511 25203511 single base substitution C A intron_variant LIRI-JP 4 25205211 25205211 single base substitution A G downstream_gene_variant LIRI-JP 4 25205211 25205211 single base substitution A G intron_variant LIRI-JP 4 25205864 25205864 single base substitution C T downstream_gene_variant LIRI-JP 4 25205864 25205864 single base substitution C T intron_variant LIRI-JP 4 25208824 25208824 single base substitution A G intron_variant LIRI-JP 4 25209943 25209943 single base substitution A C intron_variant LIRI-JP 4 25212592 25212592 single base substitution A C intron_variant LIRI-JP 4 25214960 25214960 single base substitution C T intron_variant LIRI-JP 4 25215730 25215730 single base substitution T A intron_variant LIRI-JP 4 25217813 25217813 single base substitution A G intron_variant LIRI-JP 4 25217948 25217948 single base substitution A G intron_variant LIRI-JP 4 25222100 25222100 single base substitution T G intron_variant LIRI-JP 4 25225314 25225314 single base substitution A C intron_variant LIRI-JP 4 25225988 25225988 single base substitution G A intron_variant LIRI-JP 4 25228455 25228455 single base substitution G T intron_variant LIRI-JP 4 25228723 25228723 single base substitution A T intron_variant LIRI-JP 4 25236224 25236224 single base substitution C A intron_variant LIRI-JP 4 25238644 25238644 single base substitution A G intron_variant LIRI-JP 4 25239674 25239680 deletion of <=200bp ATTTAAT - intron_variant LIRI-JP 4 25239774 25239774 single base substitution A G intron_variant LIRI-JP 4 25244590 25244590 single base substitution A G intron_variant LIRI-JP 4 25250498 25250498 single base substitution G T intron_variant LIRI-JP 4 25250499 25250499 single base substitution G T intron_variant LIRI-JP 4 25252441 25252441 single base substitution G T intron_variant LIRI-JP 4 25252549 25252549 single base substitution A G intron_variant LIRI-JP 4 25252649 25252649 single base substitution A G intron_variant LIRI-JP 4 25252906 25252906 single base substitution A G intron_variant LIRI-JP 4 25253463 25253463 single base substitution T A intron_variant LIRI-JP 4 25253723 25253723 single base substitution A G intron_variant LIRI-JP 4 25254277 25254277 single base substitution C T intron_variant LIRI-JP 4 25254864 25254864 single base substitution A G intron_variant LIRI-JP 4 25256103 25256103 single base substitution T G intron_variant LIRI-JP 4 25258196 25258196 single base substitution A G missense_variant Y123C 368A>G LIRI-JP 4 25258196 25258196 single base substitution A G missense_variant Y219C 656A>G LIRI-JP 4 25259360 25259360 single base substitution A T intron_variant LIRI-JP 4 25260233 25260233 single base substitution T G intron_variant LIRI-JP 4 25266063 25266063 single base substitution G T intron_variant LIRI-JP 4 25267195 25267195 single base substitution T G intron_variant LIRI-JP 4 25269072 25269072 single base substitution G A intron_variant LIRI-JP 4 25270246 25270246 single base substitution T A intron_variant LIRI-JP 4 25270254 25270254 single base substitution A G intron_variant LIRI-JP 4 25271315 25271315 single base substitution T A intron_variant LIRI-JP 4 25272524 25272524 single base substitution T A intron_variant LIRI-JP 4 25273113 25273113 single base substitution A G intron_variant LIRI-JP 4 25273853 25273853 single base substitution T G intron_variant LIRI-JP 4 25274127 25274127 single base substitution A G intron_variant LIRI-JP 4 25276567 25276567 single base substitution G T intron_variant LIRI-JP 4 25276984 25276984 single base substitution T C intron_variant LIRI-JP 4 25283229 25283229 single base substitution T C downstream_gene_variant LIRI-JP 4 25283715 25283715 single base substitution G A downstream_gene_variant LUSC-KR 4 25160420 25160420 single base substitution C A upstream_gene_variant LUSC-KR 4 25163523 25163523 single base substitution G A downstream_gene_variant LUSC-KR 4 25163523 25163523 single base substitution G A intron_variant LUSC-KR 4 25166079 25166079 single base substitution A G downstream_gene_variant LUSC-KR 4 25166079 25166079 single base substitution A G intron_variant LUSC-KR 4 25166598 25166598 single base substitution G C downstream_gene_variant LUSC-KR 4 25166598 25166598 single base substitution G C intron_variant LUSC-KR 4 25168868 25168868 single base substitution C G intron_variant LUSC-KR 4 25169495 25169495 single base substitution G A intron_variant LUSC-KR 4 25173691 25173691 single base substitution G A intron_variant LUSC-KR 4 25173814 25173814 single base substitution A T intron_variant LUSC-KR 4 25176746 25176746 single base substitution G C intron_variant LUSC-KR 4 25177342 25177342 single base substitution A T intron_variant LUSC-KR 4 25186235 25186235 single base substitution C T intron_variant LUSC-KR 4 25196663 25196663 single base substitution G T intron_variant LUSC-KR 4 25206709 25206709 single base substitution C T downstream_gene_variant LUSC-KR 4 25206709 25206709 single base substitution C T intron_variant LUSC-KR 4 25210568 25210568 single base substitution C T intron_variant LUSC-KR 4 25218360 25218360 single base substitution C T intron_variant LUSC-KR 4 25218444 25218444 single base substitution C T intron_variant LUSC-KR 4 25228513 25228513 single base substitution G C intron_variant LUSC-KR 4 25235581 25235581 single base substitution G T intron_variant LUSC-KR 4 25235581 25235581 single base substitution G T upstream_gene_variant LUSC-KR 4 25235582 25235582 single base substitution G T intron_variant LUSC-KR 4 25235582 25235582 single base substitution G T upstream_gene_variant LUSC-KR 4 25236352 25236352 single base substitution G T intron_variant LUSC-KR 4 25240372 25240372 single base substitution A T intron_variant LUSC-KR 4 25240611 25240611 single base substitution G A intron_variant LUSC-KR 4 25245087 25245087 single base substitution C T intron_variant LUSC-KR 4 25246730 25246730 single base substitution G A intron_variant LUSC-KR 4 25252691 25252691 single base substitution C T intron_variant LUSC-KR 4 25266568 25266568 single base substitution A T intron_variant LUSC-KR 4 25267328 25267328 single base substitution A G intron_variant LUSC-KR 4 25279320 25279320 single base substitution G A 3_prime_UTR_variant LUSC-KR 4 25279320 25279320 single base substitution G A downstream_gene_variant LUSC-US 4 25160666 25160666 single base substitution T A upstream_gene_variant LUSC-US 4 25260783 25260783 single base substitution T A missense_variant V198D 593T>A LUSC-US 4 25260783 25260783 single base substitution T A missense_variant V294D 881T>A MALY-DE 4 25173474 25173474 single base substitution C A intron_variant MALY-DE 4 25173652 25173652 single base substitution C T intron_variant MALY-DE 4 25175008 25175008 single base substitution A C intron_variant MALY-DE 4 25179344 25179345 deletion of <=200bp CA - intron_variant MALY-DE 4 25180817 25180817 single base substitution G C intron_variant MALY-DE 4 25185467 25185467 single base substitution G C intron_variant MALY-DE 4 25192943 25192943 single base substitution C A intron_variant MALY-DE 4 25197693 25197693 single base substitution A C intron_variant MALY-DE 4 25197840 25197840 single base substitution G A intron_variant MALY-DE 4 25201607 25201607 insertion of <=200bp - T exon_variant MALY-DE 4 25201607 25201607 insertion of <=200bp - T intron_variant MALY-DE 4 25208236 25208236 single base substitution C G intron_variant MALY-DE 4 25211837 25211837 single base substitution C T intron_variant MALY-DE 4 25213099 25213099 single base substitution G A intron_variant MALY-DE 4 25216140 25216140 single base substitution A G intron_variant MALY-DE 4 25235341 25235341 single base substitution C G intron_variant MALY-DE 4 25235341 25235341 single base substitution C G upstream_gene_variant MALY-DE 4 25241352 25241352 single base substitution C T intron_variant MALY-DE 4 25263222 25263222 single base substitution A C intron_variant MALY-DE 4 25269562 25269562 single base substitution C T intron_variant MALY-DE 4 25273113 25273113 single base substitution A C intron_variant MALY-DE 4 25278422 25278423 deletion of <=200bp TG - intron_variant MALY-DE 4 25278630 25278630 single base substitution C T intron_variant MALY-DE 4 25283083 25283083 single base substitution G T downstream_gene_variant MELA-AU 4 25157744 25157744 single base substitution T G upstream_gene_variant MELA-AU 4 25158332 25158332 single base substitution A T upstream_gene_variant MELA-AU 4 25158500 25158500 single base substitution G A upstream_gene_variant MELA-AU 4 25158608 25158608 single base substitution A C upstream_gene_variant MELA-AU 4 25159447 25159447 single base substitution G A upstream_gene_variant MELA-AU 4 25160492 25160492 single base substitution C T upstream_gene_variant MELA-AU 4 25161800 25161800 single base substitution G A upstream_gene_variant MELA-AU 4 25162482 25162482 single base substitution G A intron_variant MELA-AU 4 25162843 25162843 deletion of <=200bp A - intron_variant MELA-AU 4 25162935 25162935 single base substitution G A intron_variant MELA-AU 4 25163756 25163756 single base substitution G T downstream_gene_variant MELA-AU 4 25163756 25163756 single base substitution G T intron_variant MELA-AU 4 25163947 25163947 single base substitution C T downstream_gene_variant MELA-AU 4 25163947 25163947 single base substitution C T intron_variant MELA-AU 4 25165090 25165090 single base substitution G A downstream_gene_variant MELA-AU 4 25165090 25165090 single base substitution G A intron_variant MELA-AU 4 25165200 25165200 single base substitution C T downstream_gene_variant MELA-AU 4 25165200 25165200 single base substitution C T intron_variant MELA-AU 4 25165441 25165441 single base substitution G T downstream_gene_variant MELA-AU 4 25165441 25165441 single base substitution G T intron_variant MELA-AU 4 25165612 25165612 single base substitution G A downstream_gene_variant MELA-AU 4 25165612 25165612 single base substitution G A intron_variant MELA-AU 4 25167432 25167432 single base substitution G A downstream_gene_variant MELA-AU 4 25167432 25167432 single base substitution G A intron_variant MELA-AU 4 25167511 25167511 single base substitution A T downstream_gene_variant MELA-AU 4 25167511 25167511 single base substitution A T intron_variant MELA-AU 4 25167919 25167919 single base substitution C T downstream_gene_variant MELA-AU 4 25167919 25167919 single base substitution C T intron_variant MELA-AU 4 25167986 25167986 single base substitution C T downstream_gene_variant MELA-AU 4 25167986 25167986 single base substitution C T intron_variant MELA-AU 4 25168021 25168021 single base substitution C T downstream_gene_variant MELA-AU 4 25168021 25168021 single base substitution C T intron_variant MELA-AU 4 25168396 25168396 single base substitution C T intron_variant MELA-AU 4 25168531 25168531 single base substitution C T intron_variant MELA-AU 4 25168872 25168872 single base substitution C T intron_variant MELA-AU 4 25169219 25169219 single base substitution C T intron_variant MELA-AU 4 25170192 25170192 single base substitution C T intron_variant MELA-AU 4 25170259 25170259 single base substitution G A intron_variant MELA-AU 4 25170342 25170342 single base substitution C T intron_variant MELA-AU 4 25171691 25171691 single base substitution C T intron_variant MELA-AU 4 25171748 25171748 single base substitution C T intron_variant MELA-AU 4 25171810 25171810 single base substitution C T intron_variant MELA-AU 4 25171974 25171974 single base substitution C T intron_variant MELA-AU 4 25172209 25172209 single base substitution A G intron_variant MELA-AU 4 25172232 25172232 single base substitution A T intron_variant MELA-AU 4 25172330 25172330 single base substitution C T intron_variant MELA-AU 4 25172335 25172335 single base substitution G A intron_variant MELA-AU 4 25172482 25172482 single base substitution C T intron_variant MELA-AU 4 25173808 25173808 single base substitution C T intron_variant MELA-AU 4 25174020 25174020 single base substitution C T intron_variant MELA-AU 4 25174844 25174844 single base substitution C T intron_variant MELA-AU 4 25175666 25175666 single base substitution C T intron_variant MELA-AU 4 25176865 25176865 single base substitution C T intron_variant MELA-AU 4 25177011 25177011 single base substitution C T intron_variant MELA-AU 4 25177210 25177210 single base substitution T G intron_variant MELA-AU 4 25177455 25177455 single base substitution C T intron_variant MELA-AU 4 25181069 25181069 single base substitution C T intron_variant MELA-AU 4 25181336 25181336 single base substitution C T intron_variant MELA-AU 4 25181830 25181830 single base substitution G C intron_variant MELA-AU 4 25183747 25183747 single base substitution C T intron_variant MELA-AU 4 25183787 25183787 single base substitution C T intron_variant MELA-AU 4 25184454 25184454 single base substitution T C intron_variant MELA-AU 4 25185346 25185346 single base substitution T G intron_variant MELA-AU 4 25185432 25185432 single base substitution C A intron_variant MELA-AU 4 25185749 25185749 single base substitution C T intron_variant MELA-AU 4 25186887 25186887 single base substitution G A intron_variant MELA-AU 4 25187224 25187224 single base substitution C T intron_variant MELA-AU 4 25187457 25187457 single base substitution C T intron_variant MELA-AU 4 25187894 25187895 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 25188266 25188266 single base substitution C T intron_variant MELA-AU 4 25188869 25188869 single base substitution C T intron_variant MELA-AU 4 25189037 25189037 single base substitution C T intron_variant MELA-AU 4 25189252 25189252 single base substitution A G intron_variant MELA-AU 4 25189887 25189887 single base substitution T G intron_variant MELA-AU 4 25190671 25190671 single base substitution C T intron_variant MELA-AU 4 25191140 25191140 single base substitution T G intron_variant MELA-AU 4 25192184 25192184 single base substitution G A intron_variant MELA-AU 4 25192732 25192732 single base substitution C T intron_variant MELA-AU 4 25193021 25193021 single base substitution C T intron_variant MELA-AU 4 25193818 25193818 single base substitution G A intron_variant MELA-AU 4 25194119 25194119 single base substitution T C intron_variant MELA-AU 4 25194177 25194177 single base substitution C T intron_variant MELA-AU 4 25194835 25194835 single base substitution G A intron_variant MELA-AU 4 25194874 25194874 single base substitution C T intron_variant MELA-AU 4 25196507 25196507 single base substitution G T intron_variant MELA-AU 4 25196548 25196548 single base substitution C T intron_variant MELA-AU 4 25197180 25197180 single base substitution C T intron_variant MELA-AU 4 25197642 25197642 single base substitution C T intron_variant MELA-AU 4 25199047 25199047 single base substitution C T intron_variant MELA-AU 4 25199250 25199250 single base substitution T C exon_variant MELA-AU 4 25199250 25199250 single base substitution T C intron_variant MELA-AU 4 25199273 25199274 multiple base substitution (>=2bp and <=200bp) CT TA exon_variant MELA-AU 4 25199273 25199274 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 4 25199315 25199315 single base substitution C T exon_variant MELA-AU 4 25199315 25199315 single base substitution C T intron_variant MELA-AU 4 25199961 25199961 single base substitution G A exon_variant MELA-AU 4 25199961 25199961 single base substitution G A intron_variant MELA-AU 4 25200597 25200597 single base substitution T A exon_variant MELA-AU 4 25200597 25200597 single base substitution T A intron_variant MELA-AU 4 25200598 25200598 single base substitution T A exon_variant MELA-AU 4 25200598 25200598 single base substitution T A intron_variant MELA-AU 4 25200711 25200711 single base substitution C T exon_variant MELA-AU 4 25200711 25200711 single base substitution C T intron_variant MELA-AU 4 25201021 25201021 single base substitution C T exon_variant MELA-AU 4 25201021 25201021 single base substitution C T intron_variant MELA-AU 4 25201080 25201081 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 4 25201080 25201081 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 25201181 25201181 single base substitution A C exon_variant MELA-AU 4 25201181 25201181 single base substitution A C intron_variant MELA-AU 4 25201452 25201452 single base substitution C T exon_variant MELA-AU 4 25201452 25201452 single base substitution C T intron_variant MELA-AU 4 25201875 25201875 single base substitution C T exon_variant MELA-AU 4 25201875 25201875 single base substitution C T intron_variant MELA-AU 4 25201880 25201880 single base substitution C T exon_variant MELA-AU 4 25201880 25201880 single base substitution C T intron_variant MELA-AU 4 25201889 25201889 single base substitution C T exon_variant MELA-AU 4 25201889 25201889 single base substitution C T intron_variant MELA-AU 4 25201933 25201933 single base substitution T A exon_variant MELA-AU 4 25201933 25201933 single base substitution T A intron_variant MELA-AU 4 25202039 25202039 single base substitution C T exon_variant MELA-AU 4 25202039 25202039 single base substitution C T intron_variant MELA-AU 4 25202448 25202449 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 4 25202448 25202449 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 25202479 25202479 single base substitution C T exon_variant MELA-AU 4 25202479 25202479 single base substitution C T intron_variant MELA-AU 4 25202833 25202833 single base substitution T A downstream_gene_variant MELA-AU 4 25202833 25202833 single base substitution T A intron_variant MELA-AU 4 25202995 25202995 single base substitution C T downstream_gene_variant MELA-AU 4 25202995 25202995 single base substitution C T intron_variant MELA-AU 4 25203074 25203074 single base substitution A G downstream_gene_variant MELA-AU 4 25203074 25203074 single base substitution A G intron_variant MELA-AU 4 25203098 25203098 single base substitution C T downstream_gene_variant MELA-AU 4 25203098 25203098 single base substitution C T intron_variant MELA-AU 4 25203561 25203561 single base substitution C T downstream_gene_variant MELA-AU 4 25203561 25203561 single base substitution C T intron_variant MELA-AU 4 25203697 25203697 single base substitution C T downstream_gene_variant MELA-AU 4 25203697 25203697 single base substitution C T intron_variant MELA-AU 4 25204238 25204238 single base substitution T C downstream_gene_variant MELA-AU 4 25204238 25204238 single base substitution T C intron_variant MELA-AU 4 25204439 25204439 single base substitution C A downstream_gene_variant MELA-AU 4 25204439 25204439 single base substitution C A intron_variant MELA-AU 4 25204686 25204686 single base substitution C T downstream_gene_variant MELA-AU 4 25204686 25204686 single base substitution C T intron_variant MELA-AU 4 25204821 25204821 single base substitution C T downstream_gene_variant MELA-AU 4 25204821 25204821 single base substitution C T intron_variant MELA-AU 4 25205107 25205107 single base substitution C T downstream_gene_variant MELA-AU 4 25205107 25205107 single base substitution C T intron_variant MELA-AU 4 25205134 25205134 single base substitution A G downstream_gene_variant MELA-AU 4 25205134 25205134 single base substitution A G intron_variant MELA-AU 4 25205234 25205234 single base substitution G A downstream_gene_variant MELA-AU 4 25205234 25205234 single base substitution G A intron_variant MELA-AU 4 25205538 25205538 single base substitution C T downstream_gene_variant MELA-AU 4 25205538 25205538 single base substitution C T intron_variant MELA-AU 4 25207568 25207568 single base substitution C T intron_variant MELA-AU 4 25207571 25207571 single base substitution C T intron_variant MELA-AU 4 25207829 25207829 single base substitution C T intron_variant MELA-AU 4 25208002 25208002 single base substitution C T intron_variant MELA-AU 4 25208213 25208213 single base substitution G A intron_variant MELA-AU 4 25208652 25208652 single base substitution C T intron_variant MELA-AU 4 25208697 25208697 single base substitution T G intron_variant MELA-AU 4 25208770 25208770 single base substitution C T intron_variant MELA-AU 4 25208908 25208908 single base substitution C T intron_variant MELA-AU 4 25209333 25209333 single base substitution C T intron_variant MELA-AU 4 25209400 25209400 single base substitution A G intron_variant MELA-AU 4 25209592 25209592 single base substitution G A intron_variant MELA-AU 4 25209679 25209679 single base substitution G A intron_variant MELA-AU 4 25210012 25210012 single base substitution G A intron_variant MELA-AU 4 25210197 25210197 single base substitution T A intron_variant MELA-AU 4 25210594 25210594 single base substitution G A intron_variant MELA-AU 4 25211954 25211954 single base substitution T A intron_variant MELA-AU 4 25212232 25212232 single base substitution G A intron_variant MELA-AU 4 25212394 25212394 single base substitution C T intron_variant MELA-AU 4 25213101 25213101 single base substitution G A intron_variant MELA-AU 4 25213517 25213517 single base substitution C T intron_variant MELA-AU 4 25213536 25213536 single base substitution C T intron_variant MELA-AU 4 25213815 25213815 single base substitution G A intron_variant MELA-AU 4 25214194 25214194 single base substitution C T intron_variant MELA-AU 4 25215243 25215243 single base substitution C T intron_variant MELA-AU 4 25215281 25215281 single base substitution T C intron_variant MELA-AU 4 25215619 25215619 single base substitution G A intron_variant MELA-AU 4 25215624 25215624 single base substitution G A intron_variant MELA-AU 4 25215755 25215755 single base substitution C T intron_variant MELA-AU 4 25215928 25215928 single base substitution C T intron_variant MELA-AU 4 25215979 25215979 single base substitution G A intron_variant MELA-AU 4 25216074 25216074 single base substitution G A intron_variant MELA-AU 4 25216091 25216091 single base substitution C T intron_variant MELA-AU 4 25216312 25216312 single base substitution C T intron_variant MELA-AU 4 25216341 25216341 single base substitution C T intron_variant MELA-AU 4 25216347 25216347 single base substitution C T intron_variant MELA-AU 4 25216584 25216584 single base substitution C T intron_variant MELA-AU 4 25216591 25216591 single base substitution C T intron_variant MELA-AU 4 25216639 25216639 single base substitution G A intron_variant MELA-AU 4 25217011 25217011 single base substitution G A intron_variant MELA-AU 4 25217750 25217750 single base substitution G A intron_variant MELA-AU 4 25217935 25217935 single base substitution G A intron_variant MELA-AU 4 25218014 25218014 single base substitution C T intron_variant MELA-AU 4 25218208 25218208 single base substitution C T intron_variant MELA-AU 4 25218279 25218279 single base substitution C T intron_variant MELA-AU 4 25218543 25218543 single base substitution G A intron_variant MELA-AU 4 25218918 25218918 single base substitution C T intron_variant MELA-AU 4 25219022 25219022 single base substitution T A intron_variant MELA-AU 4 25219024 25219024 single base substitution C T intron_variant MELA-AU 4 25219358 25219358 single base substitution G A intron_variant MELA-AU 4 25219400 25219400 single base substitution C T intron_variant MELA-AU 4 25219452 25219452 single base substitution G C intron_variant MELA-AU 4 25219946 25219946 single base substitution G A intron_variant MELA-AU 4 25220175 25220175 single base substitution C T intron_variant MELA-AU 4 25220636 25220636 single base substitution C T intron_variant MELA-AU 4 25220641 25220641 single base substitution G A intron_variant MELA-AU 4 25220659 25220659 single base substitution T C intron_variant MELA-AU 4 25220693 25220693 single base substitution G A intron_variant MELA-AU 4 25220716 25220716 single base substitution C T intron_variant MELA-AU 4 25220881 25220881 single base substitution A T intron_variant MELA-AU 4 25221637 25221637 single base substitution A T intron_variant MELA-AU 4 25221823 25221823 single base substitution C T intron_variant MELA-AU 4 25222212 25222212 single base substitution C T intron_variant MELA-AU 4 25222239 25222240 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 25222387 25222387 single base substitution C T intron_variant MELA-AU 4 25222411 25222411 single base substitution C T intron_variant MELA-AU 4 25222536 25222536 single base substitution C T intron_variant MELA-AU 4 25222616 25222616 single base substitution G A intron_variant MELA-AU 4 25223182 25223182 single base substitution C T intron_variant MELA-AU 4 25223482 25223482 single base substitution C T intron_variant MELA-AU 4 25223504 25223504 single base substitution C T intron_variant MELA-AU 4 25223596 25223596 single base substitution G A intron_variant MELA-AU 4 25223673 25223674 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 25223961 25223961 single base substitution G A intron_variant MELA-AU 4 25224125 25224127 multiple base substitution (>=2bp and <=200bp) TCC CTT intron_variant MELA-AU 4 25224132 25224132 single base substitution T C intron_variant MELA-AU 4 25224936 25224936 single base substitution C T intron_variant MELA-AU 4 25225030 25225030 single base substitution C T intron_variant MELA-AU 4 25225129 25225129 single base substitution C T intron_variant MELA-AU 4 25225497 25225497 single base substitution C T intron_variant MELA-AU 4 25225854 25225854 single base substitution A G intron_variant MELA-AU 4 25226017 25226017 single base substitution C T intron_variant MELA-AU 4 25226593 25226593 single base substitution G A intron_variant MELA-AU 4 25226962 25226962 single base substitution C T intron_variant MELA-AU 4 25227483 25227483 single base substitution C T intron_variant MELA-AU 4 25227810 25227811 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 25228134 25228134 single base substitution C T intron_variant MELA-AU 4 25228296 25228296 single base substitution G A intron_variant MELA-AU 4 25228445 25228445 single base substitution G A intron_variant MELA-AU 4 25229172 25229173 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 25229276 25229276 single base substitution C T intron_variant MELA-AU 4 25229341 25229341 single base substitution G A intron_variant MELA-AU 4 25229724 25229724 single base substitution G A intron_variant MELA-AU 4 25229975 25229975 single base substitution G A intron_variant MELA-AU 4 25230123 25230123 single base substitution G A intron_variant MELA-AU 4 25230204 25230204 single base substitution C T intron_variant MELA-AU 4 25230293 25230293 single base substitution G A intron_variant MELA-AU 4 25230363 25230363 single base substitution C T intron_variant MELA-AU 4 25230822 25230822 single base substitution G A intron_variant MELA-AU 4 25230822 25230822 single base substitution G A upstream_gene_variant MELA-AU 4 25230896 25230896 single base substitution G A intron_variant MELA-AU 4 25230896 25230896 single base substitution G A upstream_gene_variant MELA-AU 4 25230912 25230912 single base substitution A T intron_variant MELA-AU 4 25230912 25230912 single base substitution A T upstream_gene_variant MELA-AU 4 25231407 25231407 single base substitution G A intron_variant MELA-AU 4 25231407 25231407 single base substitution G A upstream_gene_variant MELA-AU 4 25232186 25232186 single base substitution G A intron_variant MELA-AU 4 25232186 25232186 single base substitution G A upstream_gene_variant MELA-AU 4 25232487 25232487 single base substitution C T intron_variant MELA-AU 4 25232487 25232487 single base substitution C T upstream_gene_variant MELA-AU 4 25232521 25232521 single base substitution G A intron_variant MELA-AU 4 25232521 25232521 single base substitution G A upstream_gene_variant MELA-AU 4 25232643 25232643 single base substitution C T intron_variant MELA-AU 4 25232643 25232643 single base substitution C T upstream_gene_variant MELA-AU 4 25232850 25232850 single base substitution C T intron_variant MELA-AU 4 25232850 25232850 single base substitution C T upstream_gene_variant MELA-AU 4 25233845 25233845 single base substitution C T intron_variant MELA-AU 4 25233845 25233845 single base substitution C T upstream_gene_variant MELA-AU 4 25234276 25234276 single base substitution T A intron_variant MELA-AU 4 25234276 25234276 single base substitution T A upstream_gene_variant MELA-AU 4 25234581 25234581 single base substitution C T intron_variant MELA-AU 4 25234581 25234581 single base substitution C T upstream_gene_variant MELA-AU 4 25236882 25236882 single base substitution C T intron_variant MELA-AU 4 25239221 25239221 single base substitution C T intron_variant MELA-AU 4 25240231 25240231 single base substitution T G intron_variant MELA-AU 4 25240481 25240481 single base substitution C T intron_variant MELA-AU 4 25240854 25240854 single base substitution C T intron_variant MELA-AU 4 25240936 25240936 single base substitution C T intron_variant MELA-AU 4 25242534 25242534 single base substitution C T intron_variant MELA-AU 4 25242574 25242574 single base substitution C T intron_variant MELA-AU 4 25242621 25242621 single base substitution C G intron_variant MELA-AU 4 25242631 25242631 single base substitution C T intron_variant MELA-AU 4 25242632 25242632 single base substitution C T intron_variant MELA-AU 4 25242670 25242670 single base substitution C T intron_variant MELA-AU 4 25242892 25242892 single base substitution C T intron_variant MELA-AU 4 25243213 25243213 single base substitution C T intron_variant MELA-AU 4 25244037 25244037 single base substitution A G intron_variant MELA-AU 4 25244730 25244730 single base substitution G A intron_variant MELA-AU 4 25245367 25245367 single base substitution C T intron_variant MELA-AU 4 25245822 25245822 single base substitution C T intron_variant MELA-AU 4 25245894 25245894 single base substitution C T intron_variant MELA-AU 4 25246168 25246168 single base substitution T C intron_variant MELA-AU 4 25246217 25246217 single base substitution G A intron_variant MELA-AU 4 25246345 25246345 single base substitution C T intron_variant MELA-AU 4 25246421 25246421 single base substitution C T intron_variant MELA-AU 4 25247066 25247066 single base substitution C T intron_variant MELA-AU 4 25247157 25247157 single base substitution T C intron_variant MELA-AU 4 25247674 25247674 single base substitution C T intron_variant MELA-AU 4 25247894 25247894 single base substitution C T intron_variant MELA-AU 4 25249528 25249528 single base substitution T C intron_variant MELA-AU 4 25249551 25249551 single base substitution C T intron_variant MELA-AU 4 25249815 25249828 deletion of <=200bp TAAATAAAAAAGGT - intron_variant MELA-AU 4 25250876 25250876 single base substitution C T intron_variant MELA-AU 4 25251538 25251538 single base substitution C T intron_variant MELA-AU 4 25251577 25251577 single base substitution C T intron_variant MELA-AU 4 25251588 25251588 single base substitution C T intron_variant MELA-AU 4 25251908 25251908 single base substitution C T intron_variant MELA-AU 4 25252461 25252461 single base substitution G T intron_variant MELA-AU 4 25252989 25252989 single base substitution C T intron_variant MELA-AU 4 25253261 25253261 single base substitution G T intron_variant MELA-AU 4 25253865 25253865 single base substitution C T intron_variant MELA-AU 4 25255102 25255102 single base substitution C T intron_variant MELA-AU 4 25255418 25255418 single base substitution G A intron_variant MELA-AU 4 25255604 25255604 single base substitution G A intron_variant MELA-AU 4 25255871 25255871 single base substitution G A intron_variant MELA-AU 4 25256230 25256230 single base substitution T C intron_variant MELA-AU 4 25256801 25256801 single base substitution C T synonymous_variant L180L 538C>T MELA-AU 4 25256801 25256801 single base substitution C T synonymous_variant L84L 250C>T MELA-AU 4 25256901 25256901 single base substitution T A intron_variant MELA-AU 4 25257407 25257407 single base substitution C T intron_variant MELA-AU 4 25258722 25258722 single base substitution C T intron_variant MELA-AU 4 25259657 25259657 single base substitution C T intron_variant MELA-AU 4 25259760 25259760 single base substitution C T intron_variant MELA-AU 4 25260393 25260393 single base substitution C T intron_variant MELA-AU 4 25260428 25260428 single base substitution C T intron_variant MELA-AU 4 25260689 25260689 single base substitution T G missense_variant Y167D 499T>G MELA-AU 4 25260689 25260689 single base substitution T G missense_variant Y263D 787T>G MELA-AU 4 25261249 25261249 single base substitution C T intron_variant MELA-AU 4 25261344 25261344 single base substitution A G intron_variant MELA-AU 4 25261370 25261370 single base substitution T C intron_variant MELA-AU 4 25261614 25261614 single base substitution C T intron_variant MELA-AU 4 25261691 25261691 single base substitution C T intron_variant MELA-AU 4 25261709 25261709 single base substitution C T intron_variant MELA-AU 4 25262263 25262263 single base substitution T C intron_variant MELA-AU 4 25262634 25262634 single base substitution C T intron_variant MELA-AU 4 25262743 25262743 single base substitution C T intron_variant MELA-AU 4 25264056 25264056 single base substitution C T intron_variant MELA-AU 4 25264448 25264448 single base substitution C T intron_variant MELA-AU 4 25264540 25264540 single base substitution G A intron_variant MELA-AU 4 25264929 25264929 single base substitution C T intron_variant MELA-AU 4 25265441 25265441 single base substitution C T missense_variant P254S 760C>T MELA-AU 4 25265441 25265441 single base substitution C T missense_variant P350S 1048C>T MELA-AU 4 25265791 25265791 single base substitution C T intron_variant MELA-AU 4 25266023 25266023 single base substitution C T intron_variant MELA-AU 4 25266024 25266024 single base substitution C T intron_variant MELA-AU 4 25266320 25266320 single base substitution C T intron_variant MELA-AU 4 25266621 25266621 single base substitution C T intron_variant MELA-AU 4 25266976 25266976 single base substitution C T intron_variant MELA-AU 4 25267639 25267639 single base substitution C T intron_variant MELA-AU 4 25267749 25267749 single base substitution C T intron_variant MELA-AU 4 25268124 25268124 single base substitution C T intron_variant MELA-AU 4 25268150 25268150 single base substitution C T intron_variant MELA-AU 4 25270159 25270159 single base substitution T C synonymous_variant F295F 885T>C MELA-AU 4 25270159 25270159 single base substitution T C synonymous_variant F391F 1173T>C MELA-AU 4 25270594 25270594 single base substitution C T intron_variant MELA-AU 4 25271961 25271961 single base substitution T A intron_variant MELA-AU 4 25272084 25272084 single base substitution C T intron_variant MELA-AU 4 25272378 25272378 single base substitution C T intron_variant MELA-AU 4 25272777 25272777 single base substitution G A intron_variant MELA-AU 4 25273817 25273817 single base substitution G A intron_variant MELA-AU 4 25275328 25275328 single base substitution C T intron_variant MELA-AU 4 25275368 25275368 single base substitution C T intron_variant MELA-AU 4 25276516 25276516 single base substitution C T intron_variant MELA-AU 4 25276960 25276960 single base substitution T A intron_variant MELA-AU 4 25277707 25277707 single base substitution T G intron_variant MELA-AU 4 25277790 25277790 single base substitution C T intron_variant MELA-AU 4 25277949 25277949 single base substitution C T intron_variant MELA-AU 4 25278113 25278113 single base substitution T C intron_variant MELA-AU 4 25278115 25278115 single base substitution C T intron_variant MELA-AU 4 25278799 25278799 single base substitution C T missense_variant S383F 1148C>T MELA-AU 4 25278799 25278799 single base substitution C T missense_variant S479F 1436C>T MELA-AU 4 25279193 25279193 single base substitution C T 3_prime_UTR_variant MELA-AU 4 25279193 25279193 single base substitution C T downstream_gene_variant MELA-AU 4 25279881 25279881 single base substitution C T 3_prime_UTR_variant MELA-AU 4 25279881 25279881 single base substitution C T downstream_gene_variant MELA-AU 4 25279960 25279960 single base substitution T C 3_prime_UTR_variant MELA-AU 4 25279960 25279960 single base substitution T C downstream_gene_variant MELA-AU 4 25280161 25280161 single base substitution C T 3_prime_UTR_variant MELA-AU 4 25280161 25280161 single base substitution C T downstream_gene_variant MELA-AU 4 25280162 25280162 single base substitution C T 3_prime_UTR_variant MELA-AU 4 25280162 25280162 single base substitution C T downstream_gene_variant MELA-AU 4 25280457 25280457 single base substitution G A 3_prime_UTR_variant MELA-AU 4 25280457 25280457 single base substitution G A downstream_gene_variant MELA-AU 4 25282277 25282277 single base substitution C T downstream_gene_variant MELA-AU 4 25282456 25282456 single base substitution G A downstream_gene_variant MELA-AU 4 25282665 25282665 single base substitution C T downstream_gene_variant MELA-AU 4 25283267 25283267 single base substitution C T downstream_gene_variant MELA-AU 4 25283374 25283374 single base substitution C T downstream_gene_variant MELA-AU 4 25283458 25283458 single base substitution C T downstream_gene_variant MELA-AU 4 25283556 25283556 single base substitution C T downstream_gene_variant MELA-AU 4 25284902 25284902 single base substitution G A downstream_gene_variant MELA-AU 4 25285525 25285525 single base substitution C T downstream_gene_variant ORCA-IN 4 25159661 25159661 single base substitution G A upstream_gene_variant ORCA-IN 4 25160585 25160585 single base substitution G A upstream_gene_variant ORCA-IN 4 25165915 25165915 single base substitution A T downstream_gene_variant ORCA-IN 4 25165915 25165915 single base substitution A T intron_variant ORCA-IN 4 25181209 25181209 single base substitution G A intron_variant ORCA-IN 4 25209611 25209611 single base substitution G C intron_variant ORCA-IN 4 25213921 25213921 single base substitution G T intron_variant ORCA-IN 4 25243339 25243339 single base substitution C G intron_variant ORCA-IN 4 25270980 25270980 single base substitution C T intron_variant ORCA-IN 4 25279196 25279196 single base substitution C T 3_prime_UTR_variant ORCA-IN 4 25279196 25279196 single base substitution C T downstream_gene_variant ORCA-IN 4 25279944 25279944 single base substitution G A 3_prime_UTR_variant ORCA-IN 4 25279944 25279944 single base substitution G A downstream_gene_variant OV-AU 4 25164416 25164416 single base substitution A G downstream_gene_variant OV-AU 4 25164416 25164416 single base substitution A G intron_variant OV-AU 4 25166269 25166269 single base substitution G T downstream_gene_variant OV-AU 4 25166269 25166269 single base substitution G T intron_variant OV-AU 4 25168398 25168398 single base substitution T G intron_variant OV-AU 4 25171716 25171716 single base substitution A C intron_variant OV-AU 4 25182643 25182643 single base substitution T G intron_variant OV-AU 4 25186680 25186680 single base substitution T G intron_variant OV-AU 4 25191351 25191351 single base substitution G C intron_variant OV-AU 4 25192484 25192484 single base substitution G C intron_variant OV-AU 4 25194587 25194587 single base substitution A T intron_variant OV-AU 4 25194948 25194948 single base substitution C A intron_variant OV-AU 4 25214328 25214328 single base substitution C G intron_variant OV-AU 4 25220725 25220725 single base substitution A G intron_variant OV-AU 4 25221383 25221383 single base substitution A C intron_variant OV-AU 4 25240550 25240550 single base substitution A G intron_variant OV-AU 4 25240552 25240552 single base substitution T C intron_variant OV-AU 4 25240586 25240586 single base substitution A G intron_variant OV-AU 4 25247228 25247228 single base substitution A T intron_variant OV-AU 4 25253510 25253510 single base substitution A G intron_variant OV-AU 4 25256670 25256670 single base substitution T G intron_variant OV-AU 4 25263843 25263843 single base substitution G A intron_variant OV-US 4 25270129 25270129 single base substitution G C missense_variant L285F 855G>C OV-US 4 25270129 25270129 single base substitution G C missense_variant L381F 1143G>C PACA-AU 4 25167678 25167678 single base substitution C T downstream_gene_variant PACA-AU 4 25167678 25167678 single base substitution C T intron_variant PACA-AU 4 25170551 25170551 single base substitution G A intron_variant PACA-AU 4 25171822 25171822 single base substitution T C intron_variant PACA-AU 4 25187007 25187007 single base substitution T G intron_variant PACA-AU 4 25192172 25192172 single base substitution T C intron_variant PACA-AU 4 25192827 25192827 single base substitution C T intron_variant PACA-AU 4 25193244 25193244 single base substitution A T intron_variant PACA-AU 4 25198384 25198386 deletion of <=200bp TTC - intron_variant PACA-AU 4 25204834 25204834 single base substitution A G downstream_gene_variant PACA-AU 4 25204834 25204834 single base substitution A G intron_variant PACA-AU 4 25204841 25204841 single base substitution A G downstream_gene_variant PACA-AU 4 25204841 25204841 single base substitution A G intron_variant PACA-AU 4 25206707 25206707 single base substitution T C downstream_gene_variant PACA-AU 4 25206707 25206707 single base substitution T C intron_variant PACA-AU 4 25209060 25209060 single base substitution C T intron_variant PACA-AU 4 25209512 25209512 single base substitution C T intron_variant PACA-AU 4 25215624 25215624 single base substitution G C intron_variant PACA-AU 4 25218522 25218522 single base substitution G A intron_variant PACA-AU 4 25224466 25224466 deletion of <=200bp T - intron_variant PACA-AU 4 25225100 25225100 single base substitution G A intron_variant PACA-AU 4 25230972 25230972 single base substitution T A intron_variant PACA-AU 4 25230972 25230972 single base substitution T A upstream_gene_variant PACA-AU 4 25234294 25234294 single base substitution T A intron_variant PACA-AU 4 25234294 25234294 single base substitution T A upstream_gene_variant PACA-AU 4 25248476 25248476 single base substitution C T intron_variant PACA-AU 4 25252924 25252924 single base substitution G A intron_variant PACA-AU 4 25253553 25253553 single base substitution C G intron_variant PACA-AU 4 25255543 25255543 single base substitution G A intron_variant PACA-AU 4 25262453 25262453 insertion of <=200bp - T intron_variant PACA-AU 4 25266072 25266072 single base substitution A G intron_variant PACA-AU 4 25267007 25267007 single base substitution C G intron_variant PACA-AU 4 25272448 25272448 single base substitution A G intron_variant PACA-AU 4 25272509 25272509 single base substitution G A intron_variant PACA-AU 4 25275787 25275787 single base substitution C T intron_variant PACA-AU 4 25275946 25275946 single base substitution G A intron_variant PACA-AU 4 25281090 25281090 single base substitution A C downstream_gene_variant PACA-AU 4 25282676 25282676 single base substitution A G downstream_gene_variant PACA-AU 4 25285651 25285651 single base substitution T C downstream_gene_variant PACA-CA 4 25161319 25161319 single base substitution G A upstream_gene_variant PACA-CA 4 25165245 25165245 single base substitution G A downstream_gene_variant PACA-CA 4 25165245 25165245 single base substitution G A intron_variant PACA-CA 4 25166019 25166019 single base substitution C A downstream_gene_variant PACA-CA 4 25166019 25166019 single base substitution C A intron_variant PACA-CA 4 25166103 25166103 single base substitution G A downstream_gene_variant PACA-CA 4 25166103 25166103 single base substitution G A intron_variant PACA-CA 4 25174081 25174081 single base substitution G A intron_variant PACA-CA 4 25176542 25176542 single base substitution T C intron_variant PACA-CA 4 25178673 25178673 single base substitution A T intron_variant PACA-CA 4 25179691 25179691 single base substitution T A intron_variant PACA-CA 4 25179701 25179701 single base substitution T A intron_variant PACA-CA 4 25179787 25179787 single base substitution G A intron_variant PACA-CA 4 25184877 25184877 single base substitution G T intron_variant PACA-CA 4 25185068 25185068 single base substitution A G intron_variant PACA-CA 4 25188450 25188450 single base substitution C T intron_variant PACA-CA 4 25197291 25197291 single base substitution C A intron_variant PACA-CA 4 25200479 25200479 single base substitution A G exon_variant PACA-CA 4 25200479 25200479 single base substitution A G intron_variant PACA-CA 4 25202323 25202323 single base substitution C T exon_variant PACA-CA 4 25202323 25202323 single base substitution C T intron_variant PACA-CA 4 25203547 25203547 single base substitution A G downstream_gene_variant PACA-CA 4 25203547 25203547 single base substitution A G intron_variant PACA-CA 4 25204600 25204600 single base substitution T C downstream_gene_variant PACA-CA 4 25204600 25204600 single base substitution T C intron_variant PACA-CA 4 25205172 25205172 single base substitution T C downstream_gene_variant PACA-CA 4 25205172 25205172 single base substitution T C intron_variant PACA-CA 4 25207558 25207558 single base substitution G T intron_variant PACA-CA 4 25212995 25212995 single base substitution G A intron_variant PACA-CA 4 25215144 25215144 single base substitution A T intron_variant PACA-CA 4 25216665 25216665 single base substitution G A intron_variant PACA-CA 4 25216736 25216736 single base substitution C A intron_variant PACA-CA 4 25218970 25218970 single base substitution G A intron_variant PACA-CA 4 25219660 25219660 single base substitution C T intron_variant PACA-CA 4 25225451 25225451 single base substitution A G intron_variant PACA-CA 4 25233130 25233130 single base substitution G A intron_variant PACA-CA 4 25233130 25233130 single base substitution G A upstream_gene_variant PACA-CA 4 25234127 25234127 single base substitution A G intron_variant PACA-CA 4 25234127 25234127 single base substitution A G upstream_gene_variant PACA-CA 4 25235691 25235691 single base substitution T A 5_prime_UTR_variant PACA-CA 4 25235691 25235691 single base substitution T A intron_variant PACA-CA 4 25237120 25237120 single base substitution A G intron_variant PACA-CA 4 25243137 25243137 single base substitution G C intron_variant PACA-CA 4 25248194 25248194 single base substitution C G intron_variant PACA-CA 4 25252227 25252227 single base substitution C A intron_variant PACA-CA 4 25262265 25262265 single base substitution C T intron_variant PACA-CA 4 25265393 25265395 deletion of <=200bp GAA - inframe_deletion E238 PACA-CA 4 25265393 25265395 deletion of <=200bp GAA - inframe_deletion E334 PACA-CA 4 25269037 25269037 single base substitution C T intron_variant PACA-CA 4 25272730 25272730 single base substitution C T intron_variant PACA-CA 4 25273898 25273898 single base substitution G A intron_variant PACA-CA 4 25274776 25274776 single base substitution G A intron_variant PACA-CA 4 25275758 25275758 single base substitution A G intron_variant PACA-CA 4 25277232 25277232 single base substitution T C intron_variant PACA-CA 4 25281806 25281806 single base substitution A G downstream_gene_variant PACA-CA 4 25283608 25283608 single base substitution C G downstream_gene_variant PACA-CA 4 25284505 25284505 single base substitution G C downstream_gene_variant PAEN-AU 4 25165701 25165701 single base substitution G T downstream_gene_variant PAEN-AU 4 25165701 25165701 single base substitution G T intron_variant PAEN-AU 4 25184686 25184686 single base substitution T C intron_variant PAEN-AU 4 25221015 25221015 single base substitution A G intron_variant PAEN-AU 4 25235609 25235609 single base substitution T G 5_prime_UTR_variant PAEN-AU 4 25235609 25235609 single base substitution T G intron_variant PAEN-AU 4 25278444 25278444 single base substitution T C intron_variant PAEN-IT 4 25162645 25162645 single base substitution C A intron_variant PBCA-DE 4 25159334 25159334 insertion of <=200bp - TT upstream_gene_variant PBCA-DE 4 25160200 25160200 insertion of <=200bp - A upstream_gene_variant PBCA-DE 4 25179344 25179345 deletion of <=200bp CA - intron_variant PBCA-DE 4 25180030 25180030 single base substitution A T intron_variant PBCA-DE 4 25192932 25192932 single base substitution A G intron_variant PBCA-DE 4 25195818 25195818 insertion of <=200bp - A intron_variant PBCA-DE 4 25198064 25198064 single base substitution C T intron_variant PBCA-DE 4 25200788 25200788 insertion of <=200bp - C exon_variant PBCA-DE 4 25200788 25200788 insertion of <=200bp - C intron_variant PBCA-DE 4 25208547 25208547 single base substitution A G intron_variant PBCA-DE 4 25209493 25209493 insertion of <=200bp - AC intron_variant PBCA-DE 4 25219736 25219736 single base substitution T C intron_variant PBCA-DE 4 25222027 25222027 single base substitution G A intron_variant PBCA-DE 4 25227251 25227254 deletion of <=200bp TAAC - intron_variant PBCA-DE 4 25232812 25232812 insertion of <=200bp - A intron_variant PBCA-DE 4 25232812 25232812 insertion of <=200bp - A upstream_gene_variant PBCA-DE 4 25236996 25236996 deletion of <=200bp T - intron_variant PBCA-DE 4 25246970 25246970 single base substitution T C intron_variant PBCA-DE 4 25249334 25249334 insertion of <=200bp - T intron_variant PBCA-DE 4 25266996 25266996 single base substitution A T intron_variant PBCA-DE 4 25273240 25273240 single base substitution A T intron_variant PBCA-DE 4 25275972 25275972 single base substitution G A intron_variant PBCA-DE 4 25277572 25277572 insertion of <=200bp - TCAA intron_variant PBCA-DE 4 25278422 25278423 deletion of <=200bp TG - intron_variant PBCA-DE 4 25283326 25283326 insertion of <=200bp - A downstream_gene_variant PRAD-CA 4 25161501 25161501 single base substitution C A upstream_gene_variant PRAD-CA 4 25191579 25191579 single base substitution A T intron_variant PRAD-CA 4 25206725 25206725 single base substitution C T downstream_gene_variant PRAD-CA 4 25206725 25206725 single base substitution C T intron_variant PRAD-CA 4 25206747 25206747 single base substitution C T downstream_gene_variant PRAD-CA 4 25206747 25206747 single base substitution C T intron_variant PRAD-CA 4 25222745 25222745 single base substitution G A intron_variant PRAD-CA 4 25251040 25251040 single base substitution A G intron_variant PRAD-CA 4 25251209 25251209 single base substitution G A intron_variant PRAD-CA 4 25262265 25262265 single base substitution C T intron_variant PRAD-CA 4 25262267 25262267 single base substitution C T intron_variant PRAD-CA 4 25274501 25274501 single base substitution T A intron_variant PRAD-UK 4 25160007 25160007 single base substitution C G upstream_gene_variant PRAD-UK 4 25168952 25168952 single base substitution T C intron_variant PRAD-UK 4 25178438 25178438 single base substitution A T intron_variant PRAD-UK 4 25188449 25188449 single base substitution T C intron_variant PRAD-UK 4 25189092 25189092 single base substitution A C intron_variant PRAD-UK 4 25190653 25190665 deletion of <=200bp GTATTGCTGAATA - intron_variant PRAD-UK 4 25190665 25190665 single base substitution A T intron_variant PRAD-UK 4 25209296 25209296 single base substitution C A intron_variant PRAD-UK 4 25210426 25210426 single base substitution T C intron_variant PRAD-UK 4 25216174 25216174 single base substitution C G intron_variant PRAD-UK 4 25235807 25235807 single base substitution G A intron_variant PRAD-UK 4 25235807 25235807 single base substitution G A missense_variant D8N 22G>A PRAD-UK 4 25236323 25236323 single base substitution C G intron_variant PRAD-UK 4 25278109 25278109 single base substitution C T intron_variant PRAD-US 4 25160704 25160704 single base substitution T C upstream_gene_variant READ-US 4 25160601 25160601 single base substitution G A upstream_gene_variant READ-US 4 25262159 25262159 single base substitution T G missense_variant D212E 636T>G READ-US 4 25262159 25262159 single base substitution T G missense_variant D308E 924T>G RECA-EU 4 25201076 25201076 single base substitution C A exon_variant RECA-EU 4 25201076 25201076 single base substitution C A intron_variant RECA-EU 4 25202728 25202728 single base substitution G T downstream_gene_variant RECA-EU 4 25202728 25202728 single base substitution G T intron_variant RECA-EU 4 25210015 25210015 single base substitution G A intron_variant RECA-EU 4 25215143 25215143 single base substitution C G intron_variant RECA-EU 4 25217448 25217448 single base substitution A C intron_variant RECA-EU 4 25220136 25220136 single base substitution C T intron_variant RECA-EU 4 25220625 25220625 single base substitution G C intron_variant RECA-EU 4 25228941 25228941 single base substitution G A intron_variant RECA-EU 4 25231007 25231007 single base substitution C T intron_variant RECA-EU 4 25231007 25231007 single base substitution C T upstream_gene_variant RECA-EU 4 25232774 25232774 single base substitution C T intron_variant RECA-EU 4 25232774 25232774 single base substitution C T upstream_gene_variant RECA-EU 4 25234919 25234919 single base substitution G A intron_variant RECA-EU 4 25234919 25234919 single base substitution G A upstream_gene_variant RECA-EU 4 25246008 25246008 single base substitution C T intron_variant SKCA-BR 4 25159316 25159316 single base substitution G A upstream_gene_variant SKCA-BR 4 25160001 25160012 deletion of <=200bp TATTAACTACCA - upstream_gene_variant SKCA-BR 4 25161965 25161965 single base substitution T C upstream_gene_variant SKCA-BR 4 25176860 25176860 single base substitution T G intron_variant SKCA-BR 4 25180882 25180882 single base substitution G A intron_variant SKCA-BR 4 25181817 25181817 single base substitution T A intron_variant SKCA-BR 4 25186509 25186509 single base substitution C T intron_variant SKCA-BR 4 25188837 25188837 single base substitution A G intron_variant SKCA-BR 4 25189559 25189559 single base substitution A C intron_variant SKCA-BR 4 25192616 25192616 single base substitution T G intron_variant SKCA-BR 4 25193572 25193583 deletion of <=200bp TCAGCCCAGTAA - intron_variant SKCA-BR 4 25197827 25197827 single base substitution T A intron_variant SKCA-BR 4 25200939 25200939 single base substitution T A exon_variant SKCA-BR 4 25200939 25200939 single base substitution T A intron_variant SKCA-BR 4 25201855 25201855 single base substitution C T exon_variant SKCA-BR 4 25201855 25201855 single base substitution C T intron_variant SKCA-BR 4 25202218 25202218 single base substitution T A exon_variant SKCA-BR 4 25202218 25202218 single base substitution T A intron_variant SKCA-BR 4 25202224 25202224 single base substitution C T exon_variant SKCA-BR 4 25202224 25202224 single base substitution C T intron_variant SKCA-BR 4 25204141 25204141 single base substitution G A downstream_gene_variant SKCA-BR 4 25204141 25204141 single base substitution G A intron_variant SKCA-BR 4 25206981 25206981 single base substitution G T downstream_gene_variant SKCA-BR 4 25206981 25206981 single base substitution G T intron_variant SKCA-BR 4 25207496 25207496 single base substitution C A downstream_gene_variant SKCA-BR 4 25207496 25207496 single base substitution C A intron_variant SKCA-BR 4 25217551 25217551 insertion of <=200bp - TAG intron_variant SKCA-BR 4 25217771 25217771 single base substitution C T intron_variant SKCA-BR 4 25218769 25218769 single base substitution A G intron_variant SKCA-BR 4 25219024 25219024 single base substitution C T intron_variant SKCA-BR 4 25219485 25219485 insertion of <=200bp - TC intron_variant SKCA-BR 4 25221351 25221351 single base substitution A T intron_variant SKCA-BR 4 25222239 25222239 single base substitution G A intron_variant SKCA-BR 4 25222462 25222462 single base substitution C G intron_variant SKCA-BR 4 25227619 25227619 single base substitution C T intron_variant SKCA-BR 4 25227842 25227842 single base substitution C T intron_variant SKCA-BR 4 25228986 25228986 single base substitution A T intron_variant SKCA-BR 4 25234923 25234923 single base substitution C T intron_variant SKCA-BR 4 25234923 25234923 single base substitution C T upstream_gene_variant SKCA-BR 4 25237828 25237836 deletion of <=200bp AAAATAAAT - intron_variant SKCA-BR 4 25240537 25240537 single base substitution C T intron_variant SKCA-BR 4 25241447 25241447 single base substitution T A intron_variant SKCA-BR 4 25244402 25244402 single base substitution T C intron_variant SKCA-BR 4 25245912 25245912 single base substitution T C intron_variant SKCA-BR 4 25246080 25246080 single base substitution C T intron_variant SKCA-BR 4 25246984 25246984 single base substitution T G intron_variant SKCA-BR 4 25247310 25247310 single base substitution G A intron_variant SKCA-BR 4 25248530 25248530 single base substitution A C intron_variant SKCA-BR 4 25250218 25250219 deletion of <=200bp TG - intron_variant SKCA-BR 4 25250220 25250221 deletion of <=200bp GT - intron_variant SKCA-BR 4 25251098 25251098 single base substitution C G intron_variant SKCA-BR 4 25251215 25251215 single base substitution T C intron_variant SKCA-BR 4 25253427 25253427 single base substitution C T intron_variant SKCA-BR 4 25254190 25254190 single base substitution C G intron_variant SKCA-BR 4 25257465 25257465 single base substitution C T intron_variant SKCA-BR 4 25266023 25266023 single base substitution C T intron_variant SKCA-BR 4 25272195 25272195 single base substitution C T intron_variant SKCA-BR 4 25272336 25272336 single base substitution G T intron_variant SKCA-BR 4 25276561 25276561 single base substitution G A intron_variant SKCA-BR 4 25276964 25276964 single base substitution T G intron_variant SKCA-BR 4 25279369 25279369 single base substitution G A 3_prime_UTR_variant SKCA-BR 4 25279369 25279369 single base substitution G A downstream_gene_variant SKCA-BR 4 25280823 25280824 deletion of <=200bp TC - downstream_gene_variant SKCA-BR 4 25280824 25280824 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 4 25284846 25284846 single base substitution C T downstream_gene_variant SKCM-US 4 25256861 25256861 single base substitution C T missense_variant H104Y 310C>T SKCM-US 4 25256861 25256861 single base substitution C T missense_variant H200Y 598C>T SKCM-US 4 25260689 25260689 single base substitution T G missense_variant Y167D 499T>G SKCM-US 4 25260689 25260689 single base substitution T G missense_variant Y263D 787T>G SKCM-US 4 25265404 25265404 single base substitution T C synonymous_variant L241L 723T>C SKCM-US 4 25265404 25265404 single base substitution T C synonymous_variant L337L 1011T>C SKCM-US 4 25270077 25270077 single base substitution G A stop_gained W268* 803G>A SKCM-US 4 25270077 25270077 single base substitution G A stop_gained W364* 1091G>A SKCM-US 4 25270159 25270159 single base substitution T C synonymous_variant F295F 885T>C SKCM-US 4 25270159 25270159 single base substitution T C synonymous_variant F391F 1173T>C SKCM-US 4 25278737 25278737 single base substitution T C synonymous_variant G362G 1086T>C SKCM-US 4 25278737 25278737 single base substitution T C synonymous_variant G458G 1374T>C STAD-US 4 25256828 25256828 single base substitution G A missense_variant E189K 565G>A STAD-US 4 25256828 25256828 single base substitution G A missense_variant E93K 277G>A STAD-US 4 25270149 25270149 single base substitution A G missense_variant D292G 875A>G STAD-US 4 25270149 25270149 single base substitution A G missense_variant D388G 1163A>G STAD-US 4 25270822 25270822 single base substitution T C synonymous_variant G327G 981T>C STAD-US 4 25270822 25270822 single base substitution T C synonymous_variant G423G 1269T>C STAD-US 4 25278792 25278792 deletion of <=200bp T - frameshift_variant F381 STAD-US 4 25278792 25278792 deletion of <=200bp T - frameshift_variant F477 THCA-SA 4 25279320 25279320 single base substitution G A 3_prime_UTR_variant THCA-SA 4 25279320 25279320 single base substitution G A downstream_gene_variant THCA-US 4 25265420 25265420 single base substitution A G missense_variant I247V 739A>G THCA-US 4 25265420 25265420 single base substitution A G missense_variant I343V 1027A>G UCEC-US 4 25157662 25157662 single base substitution C T upstream_gene_variant UCEC-US 4 25157669 25157669 single base substitution C A upstream_gene_variant UCEC-US 4 25157685 25157685 single base substitution G A upstream_gene_variant UCEC-US 4 25158481 25158481 single base substitution C T upstream_gene_variant UCEC-US 4 25158576 25158576 single base substitution C T upstream_gene_variant UCEC-US 4 25256832 25256832 single base substitution C T missense_variant A190V 569C>T UCEC-US 4 25256832 25256832 single base substitution C T missense_variant A94V 281C>T UCEC-US 4 25258202 25258202 single base substitution C T missense_variant A125V 374C>T UCEC-US 4 25258202 25258202 single base substitution C T missense_variant A221V 662C>T UCEC-US 4 25258264 25258264 single base substitution A C synonymous_variant R146R 436A>C UCEC-US 4 25258264 25258264 single base substitution A C synonymous_variant R242R 724A>C UCEC-US 4 25270094 25270094 single base substitution G A missense_variant A274T 820G>A UCEC-US 4 25270094 25270094 single base substitution G A missense_variant A370T 1108G>A UCEC-US 4 25270155 25270155 single base substitution A G missense_variant N294S 881A>G UCEC-US 4 25270155 25270155 single base substitution A G missense_variant N390S 1169A>G UCEC-US 4 25270809 25270809 single base substitution C A missense_variant S323Y 968C>A UCEC-US 4 25270809 25270809 single base substitution C A missense_variant S419Y 1256C>A UCEC-US 4 25278649 25278649 single base substitution C T missense_variant T333I 998C>T UCEC-US 4 25278649 25278649 single base substitution C T missense_variant T429I 1286C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand cSCCP4 COSM138428 c.368C>T p.P123L Substitution - Missense 4:25252420-25252420 + TCGA-BR-8077-01 COSM4124178 c.565G>A p.E189K Substitution - Missense 4:25255206-25255206 + CSCC-27-T COSM4495090 c.445C>T p.P149S Substitution - Missense 4:25255086-25255086 + TCGA-EE-A2MJ-06 COSM3917652 c.598C>T p.H200Y Substitution - Missense 4:25255239-25255239 + TCGA-61-2092-01 COSM80337 c.693G>A p.K231K Substitution - coding silent 4:25256611-25256611 + PTC-10C COSM4159010 c.232T>C p.S78P Substitution - Missense 4:25234395-25234395 + TCGA-CA-6717-01 COSM1429247 c.693G>T p.K231N Substitution - Missense 4:25256611-25256611 + YUJUBE COSM5401045 c.1312C>T p.P438S Substitution - Missense 4:25277053-25277053 + 1N30-VS-1T30 COSM4124178 c.565G>A p.E189K Substitution - Missense 4:25255206-25255206 + TCGA-EM-A3AI-01 COSM3373474 c.1027A>G p.I343V Substitution - Missense 4:25263798-25263798 + CSCC-49-T COSM4507518 c.748C>T p.P250S Substitution - Missense 4:25256666-25256666 + TCGA-G4-6588-01 COSM1429250 c.996T>C p.D332D Substitution - coding silent 4:25263767-25263767 + TCGA-BH-A0DK-01 COSM447746 c.729G>C p.K243N Substitution - Missense 4:25256647-25256647 + TCGA-CG-4442-01 COSM4124179 c.1163A>G p.D388G Substitution - Missense 4:25268527-25268527 + TCGA-A8-A06O-01 COSM447745 c.556T>C p.Y186H Substitution - Missense 4:25255197-25255197 + TCGA-G4-6321-01 COSM3760558 c.16G>A p.E6K Substitution - Missense 4:25234179-25234179 + TCGA-B5-A0JZ-01 COSM1054646 c.950A>G p.Q317R Substitution - Missense 4:25260563-25260563 + PTC-28C COSM3760558 c.16G>A p.E6K Substitution - Missense 4:25234179-25234179 + TCGA-B5-A11E-01 COSM1054652 c.1256C>A p.S419Y Substitution - Missense 4:25269187-25269187 + 046T COSM1729781 c.875G>A p.R292K Substitution - Missense 4:25259155-25259155 + COLO-829 COSM36759 c.747C>G p.L249L Substitution - coding silent 4:25256665-25256665 + COLO-829 COSM36759 c.747C>G p.L249L Substitution - coding silent 4:25256665-25256665 + Au4 COSM5604485 c.1048C>T p.P350S Substitution - Missense 4:25263819-25263819 + TCGA-EW-A3E8-01 COSM3825713 c.1288C>T p.Q430* Substitution - Nonsense 4:25277029-25277029 + XHDG35 COSM4769515 c.1078+3G>A p.? Unknown 4:25263852-25263852 + TCGA-EE-A3J5-06 COSM3917652 c.598C>T p.H200Y Substitution - Missense 4:25255239-25255239 + TCGA-EE-A2MM-06 COSM3133236 c.1173T>C p.F391F Substitution - coding silent 4:25268537-25268537 + MedB-1 COSM5621508 c.1371G>T p.Q457H Substitution - Missense 4:25277112-25277112 + PT45 COSM5927346 c.589A>C p.N197H Substitution - Missense 4:25255230-25255230 + CHC432T COSM4953984 c.415C>G p.P139A Substitution - Missense 4:25252467-25252467 + TCGA-AG-3892-01 COSM257725 c.291G>T p.M97I Substitution - Missense 4:25252343-25252343 + SW48 COSM3133241 c.1429delT p.S479fs*>3 Deletion - Frameshift 4:25277170-25277170 + TCGA-39-5030-01 COSM733656 c.881T>A p.V294D Substitution - Missense 4:25259161-25259161 + 2521244 COSM5887273 c.514C>T p.P172S Substitution - Missense 4:25255155-25255155 + TCGA-D8-A27G-01 COSM3825712 c.725G>A p.R242K Substitution - Missense 4:25256643-25256643 + TCGA-CA-6717-01 COSM1429251 c.1009C>T p.L337F Substitution - Missense 4:25263780-25263780 + TCGA-EB-A3Y7-01 COSM3603071 c.1091G>A p.W364* Substitution - Nonsense 4:25268455-25268455 + PTC-7C COSM4159011 c.321C>T p.A107A Substitution - coding silent 4:25252373-25252373 + TCGA-A6-5656-01 COSM1429252 c.1109C>G p.A370G Substitution - Missense 4:25268473-25268473 + LIM2405 COSM4613622 c.688delA p.K231fs*4 Deletion - Frameshift 4:25256606-25256606 + TCGA-AX-A0J1-01 COSM1054640 c.569C>T p.A190V Substitution - Missense 4:25255210-25255210 + TCGA-59-2352-01 COSM72174 c.914G>C p.R305T Substitution - Missense 4:25260527-25260527 + TCGA-BR-4184-01 COSM4124180 c.1269T>C p.G423G Substitution - coding silent 4:25269200-25269200 + TCGA-09-1672-01 COSM1328551 c.809delT p.R271fs*23 Deletion - Frameshift 4:25259089-25259089 + TCGA-AX-A0J0-01 COSM1054644 c.724A>C p.R242R Substitution - coding silent 4:25256642-25256642 + TCGA-CM-4750-01 COSM3696609 c.973C>T p.H325Y Substitution - Missense 4:25260586-25260586 + Pat_58_A COSM5866227 c.322G>A p.D108N Substitution - Missense 4:25252374-25252374 + TCGA-D3-A3C3-06 COSM3603070 c.1011T>C p.L337L Substitution - coding silent 4:25263782-25263782 + TCGA-A3-3387-01 COSM481182 c.473T>C p.L158P Substitution - Missense 4:25255114-25255114 + TCGA-EI-6513-01 COSM3428445 c.924T>G p.D308E Substitution - Missense 4:25260537-25260537 + TCGA-EE-A2MH-06 COSM3603069 c.787T>G p.Y263D Substitution - Missense 4:25259067-25259067 + TCGA-24-1435-01 COSM117835 c.1143G>C p.L381F Substitution - Missense 4:25268507-25268507 + YUSMI COSM5401044 c.367C>T p.P123S Substitution - Missense 4:25252419-25252419 + S00050 COSM5657193 c.106G>A p.A36T Substitution - Missense 4:25234269-25234269 + TCGA-FD-A3SN-01 COSM3775772 c.284C>A p.S95* Substitution - Nonsense 4:25252336-25252336 + PT36 COSM5915328 c.1117C>T p.P373S Substitution - Missense 4:25268481-25268481 + PT33 COSM5908426 c.1436C>T p.S479F Substitution - Missense 4:25277177-25277177 + BD114T COSM5502845 c.1273A>T p.I425F Substitution - Missense 4:25277014-25277014 + Pat_05_A COSM3133238 c.1303G>A p.G435R Substitution - Missense 4:25277044-25277044 + CCRF-CEM COSM1670925 c.530G>A p.R177Q Substitution - Missense 4:25255171-25255171 + TCGA-D1-A0ZS-01 COSM1054648 c.1108G>A p.A370T Substitution - Missense 4:25268472-25268472 + 039T COSM1728816 c.428T>G p.I143S Substitution - Missense 4:25255069-25255069 + TCGA-AP-A051-01 COSM1054654 c.1286C>T p.T429I Substitution - Missense 4:25277027-25277027 + 044-05-01TD COSM5419161 c.663G>A p.A221A Substitution - coding silent 4:25256581-25256581 + TCGA-AP-A051-01 COSM1054642 c.662C>T p.A221V Substitution - Missense 4:25256580-25256580 + TCGA-EE-A180-06 COSM3603072 c.1374T>C p.G458G Substitution - coding silent 4:25277115-25277115 + TCGA-D1-A16Y-01 COSM1054650 c.1169A>G p.N390S Substitution - Missense 4:25268533-25268533 + YUNEXUS COSM3133230 c.943G>A p.E315K Substitution - Missense 4:25260556-25260556 + ESCC-059T COSM3940855 c.1184T>G p.L395* Substitution - Nonsense 4:25268548-25268548 + CHC432T COSM4953984 c.415C>G p.P139A Substitution - Missense 4:25252467-25252467 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.741409;Hs.741410;Hs.741411 4p15.2 612101 2457700|CGAP|BC051749|C/T|non-coding||1680|Candidate; 2457701|CGAP|BC051749|C/T|non-coding||1712|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.I343V c.1027A>G 4 25265420 THCA A G Missense p.N390S c.1169A>G 4 25270155 UCEC A G Synonymous p.K226K c.678A>G 4 25258218 HNSC C T Missense p.A225V c.674C>T 4 25258214 RCCC C T Missense p.H200Y c.598C>T 4 25256861 CM C T Synonymous p.F336F c.1008C>T 4 25265401 CM G A Missense p.A370T c.1108G>A 4 25270094 UCEC G A Missense p.R224H c.671G>A 4 25258211 LGG G A SpliceDonorSNV . c.624+1G>A 4 25256888 HNSC G A Synonymous p.K231K c.693G>A 4 25258233 HNSC G A Synonymous p.K231K c.693G>A 4 25258233 OV G C Missense p.K243N c.729G>C 4 25258269 BRCA G C Missense p.L381F c.1143G>C 4 25270129 OV G C Missense p.R305T c.914G>C 4 25262149 OV G T Missense p.G145C c.433G>T 4 25256696 LUAD T A Missense p.V294D c.881T>A 4 25260783 LUSC T C Missense p.Y186H c.556T>C 4 25256819 BRCA T C Synonymous p.F391F c.1173T>C 4 25270159 CM T C Synonymous p.G458G c.1374T>C 4 25278737 CM T C Synonymous p.L337L c.1011T>C 4 25265404 CM T G Missense p.Y263D c.787T>G 4 25260689 CM