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 17 73235514 73235514 + Silent SNP C C T TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr17:73235514C>T c.1722G>A c.(1720-1722)ccG>ccA p.P574P BLCA 17 73235616 73235616 + Silent SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 g.chr17:73235616G>A c.1620C>T c.(1618-1620)ctC>ctT p.L540L BLCA 17 73235955 73235955 + Missense_Mutation SNP C C A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 g.chr17:73235955C>A c.1498G>T c.(1498-1500)Gtc>Ttc p.V500F BLCA 17 73237565 73237565 + Missense_Mutation SNP G G A TCGA-BT-A2LA-01A-11D-A18F-08 TCGA-BT-A2LA-11A-11D-A18F-08 g.chr17:73237565G>A c.862C>T c.(862-864)Cgg>Tgg p.R288W BLCA 17 73238531 73238531 + Silent SNP C C T TCGA-E5-A4TZ-01A-11D-A31L-08 TCGA-E5-A4TZ-10B-01D-A31J-08 g.chr17:73238531C>T c.633G>A c.(631-633)gtG>gtA p.V211V BLCA 17 73239148 73239148 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 g.chr17:73239148G>C c.524C>G c.(523-525)tCc>tGc p.S175C BLCA 17 73239175 73239175 + Frame_Shift_Del DEL T T - TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 g.chr17:73239175delT c.497delA c.(496-498)aacfs p.N166fs BLCA 17 73239236 73239236 + Missense_Mutation SNP A A T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 g.chr17:73239236A>T c.436T>A c.(436-438)Tct>Act p.S146T BLCA 17 73240753 73240753 + Nonsense_Mutation SNP C C A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr17:73240753C>A c.247G>T c.(247-249)Gaa>Taa p.E83* BLCA 17 73242646 73242646 + Missense_Mutation SNP G G T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 g.chr17:73242646G>T c.145C>A c.(145-147)Ctg>Atg p.L49M BRCA 17 73239562 73239562 + Silent SNP C C T TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 g.chr17:73239562C>T c.390G>A c.(388-390)aaG>aaA p.K130K BRCA 17 73242652 73242652 + Missense_Mutation SNP C C A TCGA-A8-A06X-01A-21W-A019-09 TCGA-A8-A06X-10A-01W-A021-09 g.chr17:73242652C>A c.139G>T c.(139-141)Gtc>Ttc p.V47F CESC 17 73236104 73236104 + Nonsense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr17:73236104G>T c.1349C>A c.(1348-1350)tCa>tAa p.S450* CESC 17 73236973 73236973 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr17:73236973G>C c.1112C>G c.(1111-1113)tCt>tGt p.S371C CESC 17 73237521 73237521 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr17:73237521G>C c.906C>G c.(904-906)atC>atG p.I302M CESC 17 73239158 73239158 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 g.chr17:73239158C>T c.514G>A c.(514-516)Gag>Aag p.E172K COAD 17 73234368 73234368 + Missense_Mutation SNP T T C TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr17:73234368T>C c.2164A>G c.(2164-2166)Aac>Gac p.N722D COAD 17 73235525 73235525 + Missense_Mutation SNP C C A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr17:73235525C>A c.1711G>T c.(1711-1713)Ggc>Tgc p.G571C COAD 17 73236436 73236436 + Nonsense_Mutation SNP C C T TCGA-D5-6538-01A-11D-1719-10 TCGA-D5-6538-10A-01D-1719-10 g.chr17:73236436C>T c.1250G>A c.(1249-1251)tGg>tAg p.W417* COAD 17 73236437 73236437 + Missense_Mutation SNP A A G TCGA-CA-6716-01A-11D-1835-10 TCGA-CA-6716-10A-01D-1835-10 g.chr17:73236437A>G c.1249T>C c.(1249-1251)Tgg>Cgg p.W417R COAD 17 73237073 73237073 + Missense_Mutation SNP A A C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr17:73237073A>C c.1012T>G c.(1012-1014)Ttg>Gtg p.L338V COAD 17 73237110 73237110 + Silent SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr17:73237110C>T c.975G>A c.(973-975)acG>acA p.T325T COAD 17 73239612 73239612 + Missense_Mutation SNP C C T TCGA-D5-6539-01A-11D-1719-10 TCGA-D5-6539-10A-01D-1719-10 g.chr17:73239612C>T c.340G>A c.(340-342)Gtt>Att p.V114I COADREAD 17 73234368 73234368 + Missense_Mutation SNP T T C TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr17:73234368T>C c.2164A>G c.(2164-2166)Aac>Gac p.N722D COADREAD 17 73235525 73235525 + Missense_Mutation SNP C C A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr17:73235525C>A c.1711G>T c.(1711-1713)Ggc>Tgc p.G571C COADREAD 17 73236436 73236436 + Nonsense_Mutation SNP C C T TCGA-D5-6538-01A-11D-1719-10 TCGA-D5-6538-10A-01D-1719-10 g.chr17:73236436C>T c.1250G>A c.(1249-1251)tGg>tAg p.W417* COADREAD 17 73236437 73236437 + Missense_Mutation SNP A A G TCGA-CA-6716-01A-11D-1835-10 TCGA-CA-6716-10A-01D-1835-10 g.chr17:73236437A>G c.1249T>C c.(1249-1251)Tgg>Cgg p.W417R COADREAD 17 73237073 73237073 + Missense_Mutation SNP A A C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr17:73237073A>C c.1012T>G c.(1012-1014)Ttg>Gtg p.L338V COADREAD 17 73237110 73237110 + Silent SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr17:73237110C>T c.975G>A c.(973-975)acG>acA p.T325T COADREAD 17 73238487 73238487 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:73238487C>A c.677G>T c.(676-678)aGa>aTa p.R226I COADREAD 17 73239612 73239612 + Missense_Mutation SNP C C T TCGA-D5-6539-01A-11D-1719-10 TCGA-D5-6539-10A-01D-1719-10 g.chr17:73239612C>T c.340G>A c.(340-342)Gtt>Att p.V114I DLBC 17 73234805 73234806 + Frame_Shift_Ins INS - - TCTG TCGA-GR-7353-01A-11D-2210-10 TCGA-GR-7353-10A-01D-2210-10 g.chr17:73234805_73234806insTCTG c.1988_1989insCAGA c.(1987-1989)gaafs p.E663fs ESCA 17 73234468 73234470 + Splice_Site DEL CTC CTC - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr17:73234468_73234470delCTC c.2062_2064delGAG c.(2062-2064)gagdel p.E688del ESCA 17 73235928 73235928 + Missense_Mutation SNP C C A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 g.chr17:73235928C>A c.1525G>T c.(1525-1527)Ggc>Tgc p.G509C ESCA 17 73240711 73240711 + Missense_Mutation SNP C C T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 g.chr17:73240711C>T c.289G>A c.(289-291)Gtc>Atc p.V97I HNSC 17 73235980 73235980 + Silent SNP G G A TCGA-CR-7390-01A-11D-2012-08 TCGA-CR-7390-10A-01D-2013-08 g.chr17:73235980G>A c.1473C>T c.(1471-1473)gcC>gcT p.A491A HNSC 17 73237033 73237033 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 g.chr17:73237033G>A c.1052C>T c.(1051-1053)tCa>tTa p.S351L HNSC 17 73239164 73239164 + Missense_Mutation SNP C C A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 g.chr17:73239164C>A c.508G>T c.(508-510)Gat>Tat p.D170Y KIPAN 17 73235514 73235514 + Silent SNP C C G TCGA-CJ-4893-01A-01D-1373-10 TCGA-CJ-4893-11A-01D-1373-10 g.chr17:73235514C>G c.1722G>C c.(1720-1722)ccG>ccC p.P574P KIPAN 17 73239164 73239164 + Missense_Mutation SNP C C G TCGA-P4-A5EA-01A-11D-A28G-10 TCGA-P4-A5EA-11A-11D-A28G-10 g.chr17:73239164C>G c.508G>C c.(508-510)Gat>Cat p.D170H KIRC 17 73235514 73235514 + Silent SNP C C G TCGA-CJ-4893-01A-01D-1373-10 TCGA-CJ-4893-11A-01D-1373-10 g.chr17:73235514C>G c.1722G>C c.(1720-1722)ccG>ccC p.P574P KIRP 17 73239164 73239164 + Missense_Mutation SNP C C G TCGA-P4-A5EA-01A-11D-A28G-10 TCGA-P4-A5EA-11A-11D-A28G-10 g.chr17:73239164C>G c.508G>C c.(508-510)Gat>Cat p.D170H LUAD 17 73235600 73235601 + In_Frame_Ins INS - - GGT TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 g.chr17:73235600_73235601insGGT c.1635_1636insACC c.(1633-1638)acccca>accACCcca p.545_546insT LUAD 17 73235895 73235895 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 g.chr17:73235895C>A c.1558G>T c.(1558-1560)Gat>Tat p.D520Y LUAD 17 73237030 73237030 + Missense_Mutation SNP C C A TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr17:73237030C>A c.1055G>T c.(1054-1056)gGc>gTc p.G352V LUAD 17 73238543 73238543 + Silent SNP C C T TCGA-05-4424-01A-22D-1855-08 TCGA-05-4424-10A-01D-1855-08 g.chr17:73238543C>T c.621G>A c.(619-621)cgG>cgA p.R207R LUAD 17 73238914 73238914 + Nonsense_Mutation SNP C C A TCGA-MP-A4TK-01A-11D-A24P-08 TCGA-MP-A4TK-10A-01D-A24P-08 g.chr17:73238914C>A c.607G>T c.(607-609)Gaa>Taa p.E203* LUAD 17 73240717 73240717 + Missense_Mutation SNP T T G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 g.chr17:73240717T>G c.283A>C c.(283-285)Aaa>Caa p.K95Q LUAD 17 73240738 73240738 + Missense_Mutation SNP G G A TCGA-55-8620-01A-11D-2393-08 TCGA-55-8620-10A-01D-2393-08 g.chr17:73240738G>A c.262C>T c.(262-264)Cgc>Tgc p.R88C LUAD 17 73242605 73242605 + Silent SNP C C G TCGA-44-8120-01A-11D-2238-08 TCGA-44-8120-10A-01D-2238-08 g.chr17:73242605C>G c.186G>C c.(184-186)gcG>gcC p.A62A LUSC 17 73237582 73237582 + Missense_Mutation SNP G G A TCGA-22-4591-01A-01D-1267-08 TCGA-22-4591-11A-01D-1267-08 g.chr17:73237582G>A c.845C>T c.(844-846)gCc>gTc p.A282V OV 17 73235513 73235513 + Nonsense_Mutation SNP T T A TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 g.chr17:73235513T>A c.1723A>T c.(1723-1725)Aag>Tag p.K575* OV 17 73236436 73236436 + Nonsense_Mutation SNP C C T TCGA-57-1584-01A-01W-0615-10 TCGA-57-1584-11A-01W-0615-10 g.chr17:73236436C>T c.1250G>A c.(1249-1251)tGg>tAg p.W417* OV 17 73239646 73239646 + Silent SNP C C A TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 g.chr17:73239646C>A c.306G>T c.(304-306)ctG>ctT p.L102L PAAD 17 73234437 73234437 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:73234437C>T c.2095G>A c.(2095-2097)Gcc>Acc p.A699T PAAD 17 73239206 73239206 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:73239206G>T c.466C>A c.(466-468)Ctg>Atg p.L156M PRAD 17 73235138 73235138 + Missense_Mutation SNP C C T TCGA-EJ-5514-01A-01D-1576-08 TCGA-EJ-5514-10A-01D-1577-08 g.chr17:73235138C>T c.1807G>A c.(1807-1809)Gat>Aat p.D603N READ 17 73238487 73238487 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:73238487C>A c.677G>T c.(676-678)aGa>aTa p.R226I SARC 17 73234804 73234804 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr17:73234804G>A c.1990C>T c.(1990-1992)Ctc>Ttc p.L664F SKCM 17 73237075 73237075 + Missense_Mutation SNP C C G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 g.chr17:73237075C>G c.1010G>C c.(1009-1011)aGt>aCt p.S337T SKCM 17 73237732 73237749 + In_Frame_Del DEL GTTTAAATAAAGTCCGCC GTTTAAATAAAGTCCGCC - TCGA-FS-A1Z7-06A-11D-A197-08 TCGA-FS-A1Z7-10A-01D-A199-08 g.chr17:73237732_73237749delGTTTAAATAAAGTCCGCC c.776_793delGGCGGACTTTATTTAAAC c.(775-795)aggcggactttatttaaactc>atc p.259_265RRTLFKL>I SKCM 17 73238436 73238436 + Missense_Mutation SNP C C T TCGA-EE-A185-06A-11D-A196-08 TCGA-EE-A185-10A-01D-A198-08 g.chr17:73238436C>T c.728G>A c.(727-729)gGg>gAg p.G243E SKCM 17 73238437 73238437 + Missense_Mutation SNP C C T TCGA-EE-A185-06A-11D-A196-08 TCGA-EE-A185-10A-01D-A198-08 g.chr17:73238437C>T c.727G>A c.(727-729)Ggg>Agg p.G243R SKCM 17 73238472 73238472 + Missense_Mutation SNP A A G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr17:73238472A>G c.692T>C c.(691-693)aTg>aCg p.M231T SKCM 17 73239173 73239173 + Missense_Mutation SNP G G A TCGA-EB-A5UN-06A-11D-A30X-08 TCGA-EB-A5UN-10A-01D-A30X-08 g.chr17:73239173G>A c.499C>T c.(499-501)Cct>Tct p.P167S SKCM 17 73257652 73257652 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr17:73257652C>T c.17G>A c.(16-18)gGg>gAg p.G6E SKCM 17 73257653 73257653 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr17:73257653C>T c.16G>A c.(16-18)Ggg>Agg p.G6R

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 17 73231253 73231253 single base substitution C G downstream_gene_variant BLCA-US 17 73231679 73231679 single base substitution G A downstream_gene_variant BLCA-US 17 73231773 73231773 single base substitution G A downstream_gene_variant BLCA-US 17 73235616 73235616 single base substitution G A 3_prime_UTR_variant BLCA-US 17 73235616 73235616 single base substitution G A downstream_gene_variant BLCA-US 17 73235616 73235616 single base substitution G A exon_variant BLCA-US 17 73235616 73235616 single base substitution G A intron_variant BLCA-US 17 73235616 73235616 single base substitution G A synonymous_variant L418L 1254C>T BLCA-US 17 73235616 73235616 single base substitution G A synonymous_variant L468L 1404C>T BLCA-US 17 73235616 73235616 single base substitution G A synonymous_variant L507L 1521C>T BLCA-US 17 73235616 73235616 single base substitution G A synonymous_variant L540L 1620C>T BLCA-US 17 73235616 73235616 single base substitution G A upstream_gene_variant BLCA-US 17 73235955 73235955 single base substitution C A 3_prime_UTR_variant BLCA-US 17 73235955 73235955 single base substitution C A downstream_gene_variant BLCA-US 17 73235955 73235955 single base substitution C A exon_variant BLCA-US 17 73235955 73235955 single base substitution C A missense_variant V378F 1132G>T BLCA-US 17 73235955 73235955 single base substitution C A missense_variant V428F 1282G>T BLCA-US 17 73235955 73235955 single base substitution C A missense_variant V467F 1399G>T BLCA-US 17 73235955 73235955 single base substitution C A missense_variant V500F 1498G>T BLCA-US 17 73235955 73235955 single base substitution C A upstream_gene_variant BLCA-US 17 73239175 73239175 deletion of <=200bp T - 3_prime_UTR_variant BLCA-US 17 73239175 73239175 deletion of <=200bp T - downstream_gene_variant BLCA-US 17 73239175 73239175 deletion of <=200bp T - exon_variant BLCA-US 17 73239175 73239175 deletion of <=200bp T - frameshift_variant N133 BLCA-US 17 73239175 73239175 deletion of <=200bp T - frameshift_variant N166 BLCA-US 17 73239175 73239175 deletion of <=200bp T - frameshift_variant N44 BLCA-US 17 73239175 73239175 deletion of <=200bp T - frameshift_variant N94 BLCA-US 17 73239175 73239175 deletion of <=200bp T - intron_variant BLCA-US 17 73239175 73239175 deletion of <=200bp T - upstream_gene_variant BLCA-US 17 73239236 73239236 single base substitution A T 3_prime_UTR_variant BLCA-US 17 73239236 73239236 single base substitution A T downstream_gene_variant BLCA-US 17 73239236 73239236 single base substitution A T exon_variant BLCA-US 17 73239236 73239236 single base substitution A T intron_variant BLCA-US 17 73239236 73239236 single base substitution A T missense_variant S113T 337T>A BLCA-US 17 73239236 73239236 single base substitution A T missense_variant S146T 436T>A BLCA-US 17 73239236 73239236 single base substitution A T missense_variant S24T 70T>A BLCA-US 17 73239236 73239236 single base substitution A T missense_variant S74T 220T>A BLCA-US 17 73239236 73239236 single base substitution A T upstream_gene_variant BLCA-US 17 73242646 73242646 single base substitution G T 3_prime_UTR_variant BLCA-US 17 73242646 73242646 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant BLCA-US 17 73242646 73242646 single base substitution G T exon_variant BLCA-US 17 73242646 73242646 single base substitution G T intron_variant BLCA-US 17 73242646 73242646 single base substitution G T missense_variant L49M 145C>A BLCA-US 17 73242646 73242646 single base substitution G T upstream_gene_variant BLCA-US 17 73258675 73258675 single base substitution G A upstream_gene_variant BLCA-US 17 73262901 73262901 single base substitution C G upstream_gene_variant BOCA-FR 17 73242637 73242637 single base substitution G A 3_prime_UTR_variant BOCA-FR 17 73242637 73242637 single base substitution G A 5_prime_UTR_variant BOCA-FR 17 73242637 73242637 single base substitution G A exon_variant BOCA-FR 17 73242637 73242637 single base substitution G A intron_variant BOCA-FR 17 73242637 73242637 single base substitution G A missense_variant H52Y 154C>T BOCA-FR 17 73242637 73242637 single base substitution G A upstream_gene_variant BRCA-EU 17 73227865 73227865 single base substitution G A downstream_gene_variant BRCA-EU 17 73228020 73228020 single base substitution C G downstream_gene_variant BRCA-EU 17 73229179 73229179 single base substitution G A downstream_gene_variant BRCA-EU 17 73229281 73229281 single base substitution C T downstream_gene_variant BRCA-EU 17 73230461 73230461 single base substitution C G downstream_gene_variant BRCA-EU 17 73231120 73231120 single base substitution C T downstream_gene_variant BRCA-EU 17 73232284 73232284 single base substitution C T downstream_gene_variant BRCA-EU 17 73233448 73233448 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 73233448 73233448 single base substitution G A downstream_gene_variant BRCA-EU 17 73233448 73233448 single base substitution G A exon_variant BRCA-EU 17 73233924 73233924 single base substitution G C 3_prime_UTR_variant BRCA-EU 17 73233924 73233924 single base substitution G C downstream_gene_variant BRCA-EU 17 73233924 73233924 single base substitution G C exon_variant BRCA-EU 17 73233924 73233924 single base substitution G C intron_variant BRCA-EU 17 73235575 73235575 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 73235575 73235575 single base substitution G A downstream_gene_variant BRCA-EU 17 73235575 73235575 single base substitution G A exon_variant BRCA-EU 17 73235575 73235575 single base substitution G A intron_variant BRCA-EU 17 73235575 73235575 single base substitution G A missense_variant S432F 1295C>T BRCA-EU 17 73235575 73235575 single base substitution G A missense_variant S482F 1445C>T BRCA-EU 17 73235575 73235575 single base substitution G A missense_variant S521F 1562C>T BRCA-EU 17 73235575 73235575 single base substitution G A missense_variant S554F 1661C>T BRCA-EU 17 73235575 73235575 single base substitution G A upstream_gene_variant BRCA-EU 17 73235623 73235623 single base substitution G C 3_prime_UTR_variant BRCA-EU 17 73235623 73235623 single base substitution G C downstream_gene_variant BRCA-EU 17 73235623 73235623 single base substitution G C exon_variant BRCA-EU 17 73235623 73235623 single base substitution G C intron_variant BRCA-EU 17 73235623 73235623 single base substitution G C missense_variant S416C 1247C>G BRCA-EU 17 73235623 73235623 single base substitution G C missense_variant S466C 1397C>G BRCA-EU 17 73235623 73235623 single base substitution G C missense_variant S505C 1514C>G BRCA-EU 17 73235623 73235623 single base substitution G C missense_variant S538C 1613C>G BRCA-EU 17 73235623 73235623 single base substitution G C upstream_gene_variant BRCA-EU 17 73237924 73237924 single base substitution C G downstream_gene_variant BRCA-EU 17 73237924 73237924 single base substitution C G exon_variant BRCA-EU 17 73237924 73237924 single base substitution C G intron_variant BRCA-EU 17 73237924 73237924 single base substitution C G upstream_gene_variant BRCA-EU 17 73239306 73239306 single base substitution C T downstream_gene_variant BRCA-EU 17 73239306 73239306 single base substitution C T exon_variant BRCA-EU 17 73239306 73239306 single base substitution C T intron_variant BRCA-EU 17 73239306 73239306 single base substitution C T upstream_gene_variant BRCA-EU 17 73239700 73239700 single base substitution G C intron_variant BRCA-EU 17 73239700 73239700 single base substitution G C upstream_gene_variant BRCA-EU 17 73240533 73240533 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 73240533 73240533 single base substitution G A intron_variant BRCA-EU 17 73240533 73240533 single base substitution G A upstream_gene_variant BRCA-EU 17 73240840 73240840 single base substitution C T intron_variant BRCA-EU 17 73240840 73240840 single base substitution C T upstream_gene_variant BRCA-EU 17 73241262 73241262 single base substitution C G intron_variant BRCA-EU 17 73241262 73241262 single base substitution C G upstream_gene_variant BRCA-EU 17 73241279 73241279 single base substitution C T intron_variant BRCA-EU 17 73241279 73241279 single base substitution C T upstream_gene_variant BRCA-EU 17 73241869 73241869 single base substitution C T intron_variant BRCA-EU 17 73241869 73241869 single base substitution C T upstream_gene_variant BRCA-EU 17 73244047 73244047 single base substitution G C intron_variant BRCA-EU 17 73248590 73248590 single base substitution C T intron_variant BRCA-EU 17 73249675 73249675 single base substitution C G intron_variant BRCA-EU 17 73252200 73252200 single base substitution T C intron_variant BRCA-EU 17 73253793 73253793 single base substitution C T intron_variant BRCA-EU 17 73253824 73253824 single base substitution C G intron_variant BRCA-EU 17 73256086 73256086 single base substitution C G intron_variant BRCA-EU 17 73257006 73257006 single base substitution G T intron_variant BRCA-EU 17 73257608 73257608 single base substitution G C intron_variant BRCA-EU 17 73260846 73260846 single base substitution C T upstream_gene_variant BRCA-EU 17 73261143 73261152 deletion of <=200bp GACGAAGTCT - upstream_gene_variant BRCA-EU 17 73261881 73261881 single base substitution G A upstream_gene_variant BRCA-FR 17 73233924 73233924 single base substitution G C 3_prime_UTR_variant BRCA-FR 17 73233924 73233924 single base substitution G C downstream_gene_variant BRCA-FR 17 73233924 73233924 single base substitution G C exon_variant BRCA-FR 17 73233924 73233924 single base substitution G C intron_variant BRCA-FR 17 73237924 73237924 single base substitution C G downstream_gene_variant BRCA-FR 17 73237924 73237924 single base substitution C G exon_variant BRCA-FR 17 73237924 73237924 single base substitution C G intron_variant BRCA-FR 17 73237924 73237924 single base substitution C G upstream_gene_variant BRCA-FR 17 73239306 73239306 single base substitution C T downstream_gene_variant BRCA-FR 17 73239306 73239306 single base substitution C T exon_variant BRCA-FR 17 73239306 73239306 single base substitution C T intron_variant BRCA-FR 17 73239306 73239306 single base substitution C T upstream_gene_variant BRCA-FR 17 73241262 73241262 single base substitution C G intron_variant BRCA-FR 17 73241262 73241262 single base substitution C G upstream_gene_variant BRCA-FR 17 73241279 73241279 single base substitution C T intron_variant BRCA-FR 17 73241279 73241279 single base substitution C T upstream_gene_variant BRCA-FR 17 73257006 73257006 single base substitution G T intron_variant BRCA-FR 17 73261881 73261881 single base substitution G A upstream_gene_variant BRCA-FR 17 73262748 73262748 single base substitution G A upstream_gene_variant BRCA-FR 17 73262782 73262782 single base substitution G C upstream_gene_variant BRCA-UK 17 73233913 73233913 single base substitution G C 3_prime_UTR_variant BRCA-UK 17 73233913 73233913 single base substitution G C downstream_gene_variant BRCA-UK 17 73233913 73233913 single base substitution G C exon_variant BRCA-UK 17 73233913 73233913 single base substitution G C intron_variant BRCA-UK 17 73244047 73244047 single base substitution G C intron_variant BRCA-UK 17 73253793 73253793 single base substitution C T intron_variant BRCA-UK 17 73253824 73253824 single base substitution C G intron_variant BRCA-US 17 73230808 73230810 deletion of <=200bp GAC - downstream_gene_variant BRCA-US 17 73239562 73239562 single base substitution C T 3_prime_UTR_variant BRCA-US 17 73239562 73239562 single base substitution C T downstream_gene_variant BRCA-US 17 73239562 73239562 single base substitution C T exon_variant BRCA-US 17 73239562 73239562 single base substitution C T synonymous_variant K130K 390G>A BRCA-US 17 73239562 73239562 single base substitution C T synonymous_variant K58K 174G>A BRCA-US 17 73239562 73239562 single base substitution C T synonymous_variant K8K 24G>A BRCA-US 17 73239562 73239562 single base substitution C T synonymous_variant K97K 291G>A BRCA-US 17 73239562 73239562 single base substitution C T upstream_gene_variant BRCA-US 17 73242652 73242652 single base substitution C A 3_prime_UTR_variant BRCA-US 17 73242652 73242652 single base substitution C A 5_prime_UTR_variant BRCA-US 17 73242652 73242652 single base substitution C A exon_variant BRCA-US 17 73242652 73242652 single base substitution C A intron_variant BRCA-US 17 73242652 73242652 single base substitution C A missense_variant V47F 139G>T BRCA-US 17 73242652 73242652 single base substitution C A upstream_gene_variant BRCA-US 17 73259535 73259536 deletion of <=200bp TG - upstream_gene_variant BRCA-US 17 73261843 73261843 single base substitution G C upstream_gene_variant BRCA-US 17 73261941 73261941 single base substitution G A upstream_gene_variant BRCA-US 17 73262964 73262964 single base substitution G A upstream_gene_variant BTCA-JP 17 73238502 73238502 single base substitution A T 3_prime_UTR_variant BTCA-JP 17 73238502 73238502 single base substitution A T downstream_gene_variant BTCA-JP 17 73238502 73238502 single base substitution A T exon_variant BTCA-JP 17 73238502 73238502 single base substitution A T missense_variant V149D 446T>A BTCA-JP 17 73238502 73238502 single base substitution A T missense_variant V188D 563T>A BTCA-JP 17 73238502 73238502 single base substitution A T missense_variant V221D 662T>A BTCA-JP 17 73238502 73238502 single base substitution A T missense_variant V99D 296T>A BTCA-JP 17 73238502 73238502 single base substitution A T upstream_gene_variant BTCA-JP 17 73257563 73257563 single base substitution C T intron_variant BTCA-JP 17 73258691 73258691 single base substitution G A upstream_gene_variant CESC-US 17 73236104 73236104 single base substitution G T 3_prime_UTR_variant CESC-US 17 73236104 73236104 single base substitution G T downstream_gene_variant CESC-US 17 73236104 73236104 single base substitution G T exon_variant CESC-US 17 73236104 73236104 single base substitution G T stop_gained S328* 983C>A CESC-US 17 73236104 73236104 single base substitution G T stop_gained S378* 1133C>A CESC-US 17 73236104 73236104 single base substitution G T stop_gained S417* 1250C>A CESC-US 17 73236104 73236104 single base substitution G T stop_gained S450* 1349C>A CESC-US 17 73236104 73236104 single base substitution G T upstream_gene_variant CESC-US 17 73236973 73236973 single base substitution G C 3_prime_UTR_variant CESC-US 17 73236973 73236973 single base substitution G C downstream_gene_variant CESC-US 17 73236973 73236973 single base substitution G C exon_variant CESC-US 17 73236973 73236973 single base substitution G C missense_variant S249C 746C>G CESC-US 17 73236973 73236973 single base substitution G C missense_variant S299C 896C>G CESC-US 17 73236973 73236973 single base substitution G C missense_variant S338C 1013C>G CESC-US 17 73236973 73236973 single base substitution G C missense_variant S371C 1112C>G CESC-US 17 73236973 73236973 single base substitution G C upstream_gene_variant CESC-US 17 73237521 73237521 single base substitution G C 3_prime_UTR_variant CESC-US 17 73237521 73237521 single base substitution G C downstream_gene_variant CESC-US 17 73237521 73237521 single base substitution G C exon_variant CESC-US 17 73237521 73237521 single base substitution G C missense_variant I180M 540C>G CESC-US 17 73237521 73237521 single base substitution G C missense_variant I230M 690C>G CESC-US 17 73237521 73237521 single base substitution G C missense_variant I269M 807C>G CESC-US 17 73237521 73237521 single base substitution G C missense_variant I302M 906C>G CESC-US 17 73237521 73237521 single base substitution G C upstream_gene_variant CESC-US 17 73239158 73239158 single base substitution C T 3_prime_UTR_variant CESC-US 17 73239158 73239158 single base substitution C T downstream_gene_variant CESC-US 17 73239158 73239158 single base substitution C T exon_variant CESC-US 17 73239158 73239158 single base substitution C T intron_variant CESC-US 17 73239158 73239158 single base substitution C T missense_variant E100K 298G>A CESC-US 17 73239158 73239158 single base substitution C T missense_variant E139K 415G>A CESC-US 17 73239158 73239158 single base substitution C T missense_variant E172K 514G>A CESC-US 17 73239158 73239158 single base substitution C T missense_variant E50K 148G>A CESC-US 17 73239158 73239158 single base substitution C T upstream_gene_variant CLLE-ES 17 73236415 73236415 single base substitution G A downstream_gene_variant CLLE-ES 17 73236415 73236415 single base substitution G A exon_variant CLLE-ES 17 73236415 73236415 single base substitution G A intron_variant CLLE-ES 17 73236415 73236415 single base substitution G A splice_region_variant CLLE-ES 17 73236415 73236415 single base substitution G A upstream_gene_variant CLLE-ES 17 73242734 73242734 single base substitution T C intron_variant CLLE-ES 17 73242734 73242734 single base substitution T C upstream_gene_variant CLLE-ES 17 73259078 73259078 single base substitution G A upstream_gene_variant COAD-US 17 73228994 73228994 single base substitution G A downstream_gene_variant COAD-US 17 73237512 73237512 single base substitution C A 3_prime_UTR_variant COAD-US 17 73237512 73237512 single base substitution C A downstream_gene_variant COAD-US 17 73237512 73237512 single base substitution C A exon_variant COAD-US 17 73237512 73237512 single base substitution C A missense_variant E183D 549G>T COAD-US 17 73237512 73237512 single base substitution C A missense_variant E233D 699G>T COAD-US 17 73237512 73237512 single base substitution C A missense_variant E272D 816G>T COAD-US 17 73237512 73237512 single base substitution C A missense_variant E305D 915G>T COAD-US 17 73237512 73237512 single base substitution C A upstream_gene_variant COAD-US 17 73239612 73239612 single base substitution C T 3_prime_UTR_variant COAD-US 17 73239612 73239612 single base substitution C T 5_prime_UTR_variant COAD-US 17 73239612 73239612 single base substitution C T exon_variant COAD-US 17 73239612 73239612 single base substitution C T missense_variant V114I 340G>A COAD-US 17 73239612 73239612 single base substitution C T missense_variant V42I 124G>A COAD-US 17 73239612 73239612 single base substitution C T missense_variant V81I 241G>A COAD-US 17 73239612 73239612 single base substitution C T upstream_gene_variant COAD-US 17 73257986 73257986 single base substitution C T intron_variant COAD-US 17 73257986 73257986 single base substitution C T upstream_gene_variant COAD-US 17 73258685 73258685 single base substitution A G upstream_gene_variant COAD-US 17 73258737 73258737 single base substitution A C upstream_gene_variant COAD-US 17 73259484 73259484 single base substitution G A upstream_gene_variant COCA-CN 17 73227760 73227760 single base substitution T C downstream_gene_variant COCA-CN 17 73227999 73227999 single base substitution C T downstream_gene_variant COCA-CN 17 73231495 73231495 single base substitution C A downstream_gene_variant COCA-CN 17 73231697 73231697 single base substitution G A downstream_gene_variant COCA-CN 17 73234461 73234461 single base substitution G A 3_prime_UTR_variant COCA-CN 17 73234461 73234461 single base substitution G A downstream_gene_variant COCA-CN 17 73234461 73234461 single base substitution G A exon_variant COCA-CN 17 73234461 73234461 single base substitution G A intron_variant COCA-CN 17 73234461 73234461 single base substitution G A missense_variant R569W 1705C>T COCA-CN 17 73234461 73234461 single base substitution G A missense_variant R619W 1855C>T COCA-CN 17 73234461 73234461 single base substitution G A missense_variant R658W 1972C>T COCA-CN 17 73234461 73234461 single base substitution G A missense_variant R691W 2071C>T COCA-CN 17 73235099 73235099 single base substitution C T 3_prime_UTR_variant COCA-CN 17 73235099 73235099 single base substitution C T downstream_gene_variant COCA-CN 17 73235099 73235099 single base substitution C T exon_variant COCA-CN 17 73235099 73235099 single base substitution C T intron_variant COCA-CN 17 73235099 73235099 single base substitution C T missense_variant E22K 64G>A COCA-CN 17 73235099 73235099 single base substitution C T missense_variant E494K 1480G>A COCA-CN 17 73235099 73235099 single base substitution C T missense_variant E544K 1630G>A COCA-CN 17 73235099 73235099 single base substitution C T missense_variant E583K 1747G>A COCA-CN 17 73235099 73235099 single base substitution C T missense_variant E616K 1846G>A COCA-CN 17 73235099 73235099 single base substitution C T splice_region_variant COCA-CN 17 73235099 73235099 single base substitution C T upstream_gene_variant COCA-CN 17 73235647 73235647 single base substitution G A 3_prime_UTR_variant COCA-CN 17 73235647 73235647 single base substitution G A downstream_gene_variant COCA-CN 17 73235647 73235647 single base substitution G A exon_variant COCA-CN 17 73235647 73235647 single base substitution G A intron_variant COCA-CN 17 73235647 73235647 single base substitution G A missense_variant S408L 1223C>T COCA-CN 17 73235647 73235647 single base substitution G A missense_variant S458L 1373C>T COCA-CN 17 73235647 73235647 single base substitution G A missense_variant S497L 1490C>T COCA-CN 17 73235647 73235647 single base substitution G A missense_variant S530L 1589C>T COCA-CN 17 73235647 73235647 single base substitution G A upstream_gene_variant COCA-CN 17 73236553 73236553 single base substitution G A 3_prime_UTR_variant COCA-CN 17 73236553 73236553 single base substitution G A downstream_gene_variant COCA-CN 17 73236553 73236553 single base substitution G A exon_variant COCA-CN 17 73236553 73236553 single base substitution G A intron_variant COCA-CN 17 73236553 73236553 single base substitution G A upstream_gene_variant COCA-CN 17 73240822 73240822 single base substitution G A intron_variant COCA-CN 17 73240822 73240822 single base substitution G A upstream_gene_variant COCA-CN 17 73249797 73249797 single base substitution T C intron_variant COCA-CN 17 73251657 73251657 single base substitution T C intron_variant COCA-CN 17 73251886 73251886 single base substitution T C intron_variant COCA-CN 17 73257909 73257909 single base substitution T G intron_variant COCA-CN 17 73257909 73257909 single base substitution T G upstream_gene_variant COCA-CN 17 73259083 73259083 single base substitution C T upstream_gene_variant COCA-CN 17 73261687 73261687 single base substitution G T upstream_gene_variant ESAD-UK 17 73228465 73228465 single base substitution T C downstream_gene_variant ESAD-UK 17 73230333 73230333 single base substitution A C downstream_gene_variant ESAD-UK 17 73230496 73230496 single base substitution C G downstream_gene_variant ESAD-UK 17 73232623 73232626 deletion of <=200bp TATC - downstream_gene_variant ESAD-UK 17 73232867 73232868 deletion of <=200bp AC - 3_prime_UTR_variant ESAD-UK 17 73232867 73232868 deletion of <=200bp AC - downstream_gene_variant ESAD-UK 17 73232867 73232868 deletion of <=200bp AC - exon_variant ESAD-UK 17 73233326 73233326 single base substitution C T 3_prime_UTR_variant ESAD-UK 17 73233326 73233326 single base substitution C T downstream_gene_variant ESAD-UK 17 73233326 73233326 single base substitution C T exon_variant ESAD-UK 17 73237961 73237961 single base substitution G C downstream_gene_variant ESAD-UK 17 73237961 73237961 single base substitution G C exon_variant ESAD-UK 17 73237961 73237961 single base substitution G C intron_variant ESAD-UK 17 73237961 73237961 single base substitution G C upstream_gene_variant ESAD-UK 17 73238531 73238531 single base substitution C T 3_prime_UTR_variant ESAD-UK 17 73238531 73238531 single base substitution C T downstream_gene_variant ESAD-UK 17 73238531 73238531 single base substitution C T exon_variant ESAD-UK 17 73238531 73238531 single base substitution C T synonymous_variant V139V 417G>A ESAD-UK 17 73238531 73238531 single base substitution C T synonymous_variant V178V 534G>A ESAD-UK 17 73238531 73238531 single base substitution C T synonymous_variant V211V 633G>A ESAD-UK 17 73238531 73238531 single base substitution C T synonymous_variant V89V 267G>A ESAD-UK 17 73238531 73238531 single base substitution C T upstream_gene_variant ESAD-UK 17 73238588 73238588 single base substitution C T downstream_gene_variant ESAD-UK 17 73238588 73238588 single base substitution C T intron_variant ESAD-UK 17 73238588 73238588 single base substitution C T upstream_gene_variant ESAD-UK 17 73239115 73239115 single base substitution G T downstream_gene_variant ESAD-UK 17 73239115 73239115 single base substitution G T intron_variant ESAD-UK 17 73239115 73239115 single base substitution G T upstream_gene_variant ESAD-UK 17 73240742 73240742 single base substitution C A 3_prime_UTR_variant ESAD-UK 17 73240742 73240742 single base substitution C A exon_variant ESAD-UK 17 73240742 73240742 single base substitution C A intron_variant ESAD-UK 17 73240742 73240742 single base substitution C A missense_variant K14N 42G>T ESAD-UK 17 73240742 73240742 single base substitution C A missense_variant K86N 258G>T ESAD-UK 17 73240742 73240742 single base substitution C A upstream_gene_variant ESAD-UK 17 73240838 73240838 single base substitution C T intron_variant ESAD-UK 17 73240838 73240838 single base substitution C T upstream_gene_variant ESAD-UK 17 73241437 73241437 single base substitution C T intron_variant ESAD-UK 17 73241437 73241437 single base substitution C T upstream_gene_variant ESAD-UK 17 73253925 73253925 single base substitution G A intron_variant ESAD-UK 17 73255423 73255423 single base substitution T C intron_variant ESAD-UK 17 73255603 73255603 single base substitution C T intron_variant ESAD-UK 17 73255861 73255861 single base substitution C T intron_variant ESAD-UK 17 73255889 73255889 single base substitution C A intron_variant ESAD-UK 17 73257931 73257931 single base substitution C T intron_variant ESAD-UK 17 73257931 73257931 single base substitution C T upstream_gene_variant ESAD-UK 17 73259463 73259463 single base substitution G A upstream_gene_variant ESAD-UK 17 73261442 73261442 single base substitution G A upstream_gene_variant GBM-US 17 73258761 73258761 single base substitution A T upstream_gene_variant GBM-US 17 73258939 73258939 single base substitution C T upstream_gene_variant KIRC-US 17 73235514 73235514 single base substitution C G 3_prime_UTR_variant KIRC-US 17 73235514 73235514 single base substitution C G downstream_gene_variant KIRC-US 17 73235514 73235514 single base substitution C G exon_variant KIRC-US 17 73235514 73235514 single base substitution C G intron_variant KIRC-US 17 73235514 73235514 single base substitution C G synonymous_variant P452P 1356G>C KIRC-US 17 73235514 73235514 single base substitution C G synonymous_variant P502P 1506G>C KIRC-US 17 73235514 73235514 single base substitution C G synonymous_variant P541P 1623G>C KIRC-US 17 73235514 73235514 single base substitution C G synonymous_variant P574P 1722G>C KIRC-US 17 73235514 73235514 single base substitution C G upstream_gene_variant KIRC-US 17 73258639 73258639 single base substitution G C upstream_gene_variant KIRP-US 17 73235600 73235600 insertion of <=200bp - GGT 3_prime_UTR_variant KIRP-US 17 73235600 73235600 insertion of <=200bp - GGT downstream_gene_variant KIRP-US 17 73235600 73235600 insertion of <=200bp - GGT exon_variant KIRP-US 17 73235600 73235600 insertion of <=200bp - GGT inframe_insertion P424HP KIRP-US 17 73235600 73235600 insertion of <=200bp - GGT inframe_insertion P474HP KIRP-US 17 73235600 73235600 insertion of <=200bp - GGT inframe_insertion P513HP KIRP-US 17 73235600 73235600 insertion of <=200bp - GGT inframe_insertion P546HP KIRP-US 17 73235600 73235600 insertion of <=200bp - GGT intron_variant KIRP-US 17 73235600 73235600 insertion of <=200bp - GGT upstream_gene_variant KIRP-US 17 73237524 73237524 single base substitution G T 3_prime_UTR_variant KIRP-US 17 73237524 73237524 single base substitution G T downstream_gene_variant KIRP-US 17 73237524 73237524 single base substitution G T exon_variant KIRP-US 17 73237524 73237524 single base substitution G T synonymous_variant V179V 537C>A KIRP-US 17 73237524 73237524 single base substitution G T synonymous_variant V229V 687C>A KIRP-US 17 73237524 73237524 single base substitution G T synonymous_variant V268V 804C>A KIRP-US 17 73237524 73237524 single base substitution G T synonymous_variant V301V 903C>A KIRP-US 17 73237524 73237524 single base substitution G T upstream_gene_variant KIRP-US 17 73239164 73239164 single base substitution C G 3_prime_UTR_variant KIRP-US 17 73239164 73239164 single base substitution C G downstream_gene_variant KIRP-US 17 73239164 73239164 single base substitution C G exon_variant KIRP-US 17 73239164 73239164 single base substitution C G intron_variant KIRP-US 17 73239164 73239164 single base substitution C G missense_variant D137H 409G>C KIRP-US 17 73239164 73239164 single base substitution C G missense_variant D170H 508G>C KIRP-US 17 73239164 73239164 single base substitution C G missense_variant D48H 142G>C KIRP-US 17 73239164 73239164 single base substitution C G missense_variant D98H 292G>C KIRP-US 17 73239164 73239164 single base substitution C G upstream_gene_variant LAML-KR 17 73251831 73251831 single base substitution A G intron_variant LICA-CN 17 73238448 73238448 single base substitution T C 3_prime_UTR_variant LICA-CN 17 73238448 73238448 single base substitution T C downstream_gene_variant LICA-CN 17 73238448 73238448 single base substitution T C exon_variant LICA-CN 17 73238448 73238448 single base substitution T C missense_variant D117G 350A>G LICA-CN 17 73238448 73238448 single base substitution T C missense_variant D167G 500A>G LICA-CN 17 73238448 73238448 single base substitution T C missense_variant D206G 617A>G LICA-CN 17 73238448 73238448 single base substitution T C missense_variant D239G 716A>G LICA-CN 17 73238448 73238448 single base substitution T C upstream_gene_variant LICA-FR 17 73235516 73235516 single base substitution G C 3_prime_UTR_variant LICA-FR 17 73235516 73235516 single base substitution G C downstream_gene_variant LICA-FR 17 73235516 73235516 single base substitution G C exon_variant LICA-FR 17 73235516 73235516 single base substitution G C intron_variant LICA-FR 17 73235516 73235516 single base substitution G C missense_variant P452A 1354C>G LICA-FR 17 73235516 73235516 single base substitution G C missense_variant P502A 1504C>G LICA-FR 17 73235516 73235516 single base substitution G C missense_variant P541A 1621C>G LICA-FR 17 73235516 73235516 single base substitution G C missense_variant P574A 1720C>G LICA-FR 17 73235516 73235516 single base substitution G C upstream_gene_variant LICA-FR 17 73238979 73238979 single base substitution A G 3_prime_UTR_variant LICA-FR 17 73238979 73238979 single base substitution A G downstream_gene_variant LICA-FR 17 73238979 73238979 single base substitution A G exon_variant LICA-FR 17 73238979 73238979 single base substitution A G missense_variant L109P 326T>C LICA-FR 17 73238979 73238979 single base substitution A G missense_variant L148P 443T>C LICA-FR 17 73238979 73238979 single base substitution A G missense_variant L181P 542T>C LICA-FR 17 73238979 73238979 single base substitution A G missense_variant L59P 176T>C LICA-FR 17 73238979 73238979 single base substitution A G synonymous_variant A146A 438T>C LICA-FR 17 73238979 73238979 single base substitution A G upstream_gene_variant LICA-FR 17 73251582 73251582 single base substitution G A intron_variant LICA-FR 17 73257647 73257647 single base substitution T C 5_prime_UTR_variant LICA-FR 17 73257647 73257647 single base substitution T C exon_variant LICA-FR 17 73257647 73257647 single base substitution T C intron_variant LICA-FR 17 73257647 73257647 single base substitution T C missense_variant S8G 22A>G LICA-FR 17 73262916 73262916 single base substitution G A upstream_gene_variant LIHC-US 17 73236489 73236489 single base substitution G C 3_prime_UTR_variant LIHC-US 17 73236489 73236489 single base substitution G C downstream_gene_variant LIHC-US 17 73236489 73236489 single base substitution G C exon_variant LIHC-US 17 73236489 73236489 single base substitution G C synonymous_variant L277L 831C>G LIHC-US 17 73236489 73236489 single base substitution G C synonymous_variant L327L 981C>G LIHC-US 17 73236489 73236489 single base substitution G C synonymous_variant L366L 1098C>G LIHC-US 17 73236489 73236489 single base substitution G C synonymous_variant L399L 1197C>G LIHC-US 17 73236489 73236489 single base substitution G C upstream_gene_variant LINC-JP 17 73228927 73228927 single base substitution T G downstream_gene_variant LINC-JP 17 73231102 73231102 single base substitution T C downstream_gene_variant LINC-JP 17 73231122 73231122 single base substitution A G downstream_gene_variant LINC-JP 17 73231355 73231355 single base substitution C G downstream_gene_variant LINC-JP 17 73231708 73231708 single base substitution G C downstream_gene_variant LINC-JP 17 73231715 73231715 single base substitution T C downstream_gene_variant LINC-JP 17 73231731 73231731 single base substitution T A downstream_gene_variant LINC-JP 17 73234022 73234022 single base substitution G C 3_prime_UTR_variant LINC-JP 17 73234022 73234022 single base substitution G C downstream_gene_variant LINC-JP 17 73234022 73234022 single base substitution G C exon_variant LINC-JP 17 73234022 73234022 single base substitution G C intron_variant LINC-JP 17 73238670 73238670 single base substitution T A downstream_gene_variant LINC-JP 17 73238670 73238670 single base substitution T A intron_variant LINC-JP 17 73238670 73238670 single base substitution T A upstream_gene_variant LINC-JP 17 73242927 73242927 single base substitution T C intron_variant LINC-JP 17 73242927 73242927 single base substitution T C upstream_gene_variant LINC-JP 17 73244593 73244593 single base substitution T C intron_variant LINC-JP 17 73261676 73261676 single base substitution G A upstream_gene_variant LINC-JP 17 73262604 73262604 single base substitution T A upstream_gene_variant LIRI-JP 17 73231646 73231646 single base substitution C G downstream_gene_variant LIRI-JP 17 73232742 73232742 single base substitution A G 3_prime_UTR_variant LIRI-JP 17 73232742 73232742 single base substitution A G downstream_gene_variant LIRI-JP 17 73232742 73232742 single base substitution A G exon_variant LIRI-JP 17 73234643 73234644 deletion of <=200bp AC - downstream_gene_variant LIRI-JP 17 73234643 73234644 deletion of <=200bp AC - frameshift_variant C91 LIRI-JP 17 73234643 73234644 deletion of <=200bp AC - intron_variant LIRI-JP 17 73234805 73234805 single base substitution T C 3_prime_UTR_variant LIRI-JP 17 73234805 73234805 single base substitution T C downstream_gene_variant LIRI-JP 17 73234805 73234805 single base substitution T C exon_variant LIRI-JP 17 73234805 73234805 single base substitution T C synonymous_variant E37E 111A>G LIRI-JP 17 73234805 73234805 single base substitution T C synonymous_variant E541E 1623A>G LIRI-JP 17 73234805 73234805 single base substitution T C synonymous_variant E591E 1773A>G LIRI-JP 17 73234805 73234805 single base substitution T C synonymous_variant E630E 1890A>G LIRI-JP 17 73234805 73234805 single base substitution T C synonymous_variant E663E 1989A>G LIRI-JP 17 73234805 73234805 single base substitution T C synonymous_variant E69E 207A>G LIRI-JP 17 73239355 73239355 single base substitution G C downstream_gene_variant LIRI-JP 17 73239355 73239355 single base substitution G C intron_variant LIRI-JP 17 73239355 73239355 single base substitution G C upstream_gene_variant LIRI-JP 17 73240305 73240305 single base substitution C A intron_variant LIRI-JP 17 73240305 73240305 single base substitution C A upstream_gene_variant LIRI-JP 17 73240590 73240590 single base substitution T C intron_variant LIRI-JP 17 73240590 73240590 single base substitution T C upstream_gene_variant LIRI-JP 17 73240662 73240662 single base substitution A C intron_variant LIRI-JP 17 73240662 73240662 single base substitution A C upstream_gene_variant LIRI-JP 17 73250091 73250091 single base substitution T C intron_variant LIRI-JP 17 73250124 73250124 single base substitution C A intron_variant LIRI-JP 17 73251086 73251086 single base substitution C A intron_variant LIRI-JP 17 73256758 73256758 single base substitution T C intron_variant LIRI-JP 17 73262105 73262105 single base substitution G T upstream_gene_variant LIRI-JP 17 73262117 73262117 single base substitution C G upstream_gene_variant LUSC-KR 17 73244595 73244595 single base substitution C T intron_variant LUSC-KR 17 73251161 73251161 single base substitution C G intron_variant LUSC-KR 17 73251831 73251831 single base substitution A G intron_variant LUSC-KR 17 73254548 73254548 single base substitution T A intron_variant LUSC-KR 17 73255052 73255052 single base substitution G T intron_variant LUSC-KR 17 73262560 73262560 single base substitution C T upstream_gene_variant LUSC-KR 17 73262590 73262590 single base substitution G C upstream_gene_variant LUSC-US 17 73230817 73230817 single base substitution G A downstream_gene_variant LUSC-US 17 73230872 73230872 single base substitution G A downstream_gene_variant LUSC-US 17 73237582 73237582 single base substitution G A 3_prime_UTR_variant LUSC-US 17 73237582 73237582 single base substitution G A downstream_gene_variant LUSC-US 17 73237582 73237582 single base substitution G A exon_variant LUSC-US 17 73237582 73237582 single base substitution G A missense_variant A160V 479C>T LUSC-US 17 73237582 73237582 single base substitution G A missense_variant A210V 629C>T LUSC-US 17 73237582 73237582 single base substitution G A missense_variant A249V 746C>T LUSC-US 17 73237582 73237582 single base substitution G A missense_variant A282V 845C>T LUSC-US 17 73237582 73237582 single base substitution G A upstream_gene_variant MALY-DE 17 73231074 73231074 single base substitution C T downstream_gene_variant MALY-DE 17 73233969 73233969 single base substitution G A 3_prime_UTR_variant MALY-DE 17 73233969 73233969 single base substitution G A downstream_gene_variant MALY-DE 17 73233969 73233969 single base substitution G A exon_variant MALY-DE 17 73233969 73233969 single base substitution G A intron_variant MALY-DE 17 73235424 73235424 single base substitution C T downstream_gene_variant MALY-DE 17 73235424 73235424 single base substitution C T exon_variant MALY-DE 17 73235424 73235424 single base substitution C T intron_variant MALY-DE 17 73235424 73235424 single base substitution C T upstream_gene_variant MALY-DE 17 73238935 73238935 single base substitution G C 3_prime_UTR_variant MALY-DE 17 73238935 73238935 single base substitution G C downstream_gene_variant MALY-DE 17 73238935 73238935 single base substitution G C exon_variant MALY-DE 17 73238935 73238935 single base substitution G C missense_variant L124V 370C>G MALY-DE 17 73238935 73238935 single base substitution G C missense_variant L163V 487C>G MALY-DE 17 73238935 73238935 single base substitution G C missense_variant L196V 586C>G MALY-DE 17 73238935 73238935 single base substitution G C missense_variant L74V 220C>G MALY-DE 17 73238935 73238935 single base substitution G C upstream_gene_variant MALY-DE 17 73257006 73257006 single base substitution G T intron_variant MALY-DE 17 73257013 73257013 single base substitution A G intron_variant MALY-DE 17 73257931 73257931 single base substitution C G intron_variant MALY-DE 17 73257931 73257931 single base substitution C G upstream_gene_variant MELA-AU 17 73227808 73227808 single base substitution C T downstream_gene_variant MELA-AU 17 73228635 73228648 deletion of <=200bp ACACGTAGGGAGAA - downstream_gene_variant MELA-AU 17 73229030 73229030 single base substitution A G downstream_gene_variant MELA-AU 17 73229640 73229640 single base substitution C T downstream_gene_variant MELA-AU 17 73230361 73230361 single base substitution G A downstream_gene_variant MELA-AU 17 73230624 73230625 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 73230998 73230998 single base substitution T C downstream_gene_variant MELA-AU 17 73231336 73231337 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 73231625 73231625 single base substitution A G downstream_gene_variant MELA-AU 17 73232701 73232701 single base substitution A G 3_prime_UTR_variant MELA-AU 17 73232701 73232701 single base substitution A G downstream_gene_variant MELA-AU 17 73232701 73232701 single base substitution A G exon_variant MELA-AU 17 73232843 73232843 single base substitution C T 3_prime_UTR_variant MELA-AU 17 73232843 73232843 single base substitution C T downstream_gene_variant MELA-AU 17 73232843 73232843 single base substitution C T exon_variant MELA-AU 17 73232890 73232890 single base substitution A C 3_prime_UTR_variant MELA-AU 17 73232890 73232890 single base substitution A C downstream_gene_variant MELA-AU 17 73232890 73232890 single base substitution A C exon_variant MELA-AU 17 73233421 73233421 single base substitution C T 3_prime_UTR_variant MELA-AU 17 73233421 73233421 single base substitution C T downstream_gene_variant MELA-AU 17 73233421 73233421 single base substitution C T exon_variant MELA-AU 17 73233636 73233636 single base substitution G A 3_prime_UTR_variant MELA-AU 17 73233636 73233636 single base substitution G A downstream_gene_variant MELA-AU 17 73233636 73233636 single base substitution G A exon_variant MELA-AU 17 73233636 73233636 single base substitution G A intron_variant MELA-AU 17 73234552 73234552 single base substitution T C 3_prime_UTR_variant MELA-AU 17 73234552 73234552 single base substitution T C downstream_gene_variant MELA-AU 17 73234552 73234552 single base substitution T C intron_variant MELA-AU 17 73235376 73235376 single base substitution G A downstream_gene_variant MELA-AU 17 73235376 73235376 single base substitution G A exon_variant MELA-AU 17 73235376 73235376 single base substitution G A intron_variant MELA-AU 17 73235376 73235376 single base substitution G A upstream_gene_variant MELA-AU 17 73235481 73235482 multiple base substitution (>=2bp and <=200bp) GT AG 3_prime_UTR_variant MELA-AU 17 73235481 73235482 multiple base substitution (>=2bp and <=200bp) GT AG downstream_gene_variant MELA-AU 17 73235481 73235482 multiple base substitution (>=2bp and <=200bp) GT AG exon_variant MELA-AU 17 73235481 73235482 multiple base substitution (>=2bp and <=200bp) GT AG intron_variant MELA-AU 17 73235481 73235482 multiple base substitution (>=2bp and <=200bp) GT AG missense_variant H463P 1388AC>CT MELA-AU 17 73235481 73235482 multiple base substitution (>=2bp and <=200bp) GT AG missense_variant H513P 1538AC>CT MELA-AU 17 73235481 73235482 multiple base substitution (>=2bp and <=200bp) GT AG missense_variant H552P 1655AC>CT MELA-AU 17 73235481 73235482 multiple base substitution (>=2bp and <=200bp) GT AG missense_variant H585P 1754AC>CT MELA-AU 17 73235481 73235482 multiple base substitution (>=2bp and <=200bp) GT AG upstream_gene_variant MELA-AU 17 73237485 73237485 single base substitution C A 3_prime_UTR_variant MELA-AU 17 73237485 73237485 single base substitution C A downstream_gene_variant MELA-AU 17 73237485 73237485 single base substitution C A exon_variant MELA-AU 17 73237485 73237485 single base substitution C A synonymous_variant S192S 576G>T MELA-AU 17 73237485 73237485 single base substitution C A synonymous_variant S242S 726G>T MELA-AU 17 73237485 73237485 single base substitution C A synonymous_variant S281S 843G>T MELA-AU 17 73237485 73237485 single base substitution C A synonymous_variant S314S 942G>T MELA-AU 17 73237485 73237485 single base substitution C A upstream_gene_variant MELA-AU 17 73237565 73237566 deletion of <=200bp GG - 3_prime_UTR_variant MELA-AU 17 73237565 73237566 deletion of <=200bp GG - downstream_gene_variant MELA-AU 17 73237565 73237566 deletion of <=200bp GG - exon_variant MELA-AU 17 73237565 73237566 deletion of <=200bp GG - frameshift_variant SR165 MELA-AU 17 73237565 73237566 deletion of <=200bp GG - frameshift_variant SR215 MELA-AU 17 73237565 73237566 deletion of <=200bp GG - frameshift_variant SR254 MELA-AU 17 73237565 73237566 deletion of <=200bp GG - frameshift_variant SR287 MELA-AU 17 73237565 73237566 deletion of <=200bp GG - upstream_gene_variant MELA-AU 17 73238436 73238437 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 17 73238436 73238437 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 73238436 73238437 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 17 73238436 73238437 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant G121K 361GG>AA MELA-AU 17 73238436 73238437 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant G171K 511GG>AA MELA-AU 17 73238436 73238437 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant G210K 628GG>AA MELA-AU 17 73238436 73238437 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant G243K 727GG>AA MELA-AU 17 73238436 73238437 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 73238555 73238555 single base substitution C T downstream_gene_variant MELA-AU 17 73238555 73238555 single base substitution C T splice_acceptor_variant MELA-AU 17 73238555 73238555 single base substitution C T upstream_gene_variant MELA-AU 17 73238559 73238559 single base substitution C T downstream_gene_variant MELA-AU 17 73238559 73238559 single base substitution C T intron_variant MELA-AU 17 73238559 73238559 single base substitution C T splice_region_variant MELA-AU 17 73238559 73238559 single base substitution C T upstream_gene_variant MELA-AU 17 73239221 73239221 single base substitution G A 3_prime_UTR_variant MELA-AU 17 73239221 73239221 single base substitution G A downstream_gene_variant MELA-AU 17 73239221 73239221 single base substitution G A exon_variant MELA-AU 17 73239221 73239221 single base substitution G A intron_variant MELA-AU 17 73239221 73239221 single base substitution G A missense_variant P118S 352C>T MELA-AU 17 73239221 73239221 single base substitution G A missense_variant P151S 451C>T MELA-AU 17 73239221 73239221 single base substitution G A missense_variant P29S 85C>T MELA-AU 17 73239221 73239221 single base substitution G A missense_variant P79S 235C>T MELA-AU 17 73239221 73239221 single base substitution G A upstream_gene_variant MELA-AU 17 73240284 73240284 single base substitution C T intron_variant MELA-AU 17 73240284 73240284 single base substitution C T upstream_gene_variant MELA-AU 17 73240561 73240562 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 17 73240561 73240562 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 73240561 73240562 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 73240978 73240978 single base substitution G A intron_variant MELA-AU 17 73240978 73240978 single base substitution G A upstream_gene_variant MELA-AU 17 73241052 73241052 single base substitution G A intron_variant MELA-AU 17 73241052 73241052 single base substitution G A upstream_gene_variant MELA-AU 17 73241071 73241071 single base substitution T G intron_variant MELA-AU 17 73241071 73241071 single base substitution T G upstream_gene_variant MELA-AU 17 73241127 73241127 single base substitution G A intron_variant MELA-AU 17 73241127 73241127 single base substitution G A upstream_gene_variant MELA-AU 17 73241245 73241245 single base substitution G A intron_variant MELA-AU 17 73241245 73241245 single base substitution G A upstream_gene_variant MELA-AU 17 73241655 73241655 single base substitution G A intron_variant MELA-AU 17 73241655 73241655 single base substitution G A upstream_gene_variant MELA-AU 17 73241806 73241806 single base substitution A C intron_variant MELA-AU 17 73241806 73241806 single base substitution A C upstream_gene_variant MELA-AU 17 73241840 73241840 single base substitution G A intron_variant MELA-AU 17 73241840 73241840 single base substitution G A upstream_gene_variant MELA-AU 17 73242478 73242478 single base substitution G A intron_variant MELA-AU 17 73242478 73242478 single base substitution G A upstream_gene_variant MELA-AU 17 73242529 73242529 single base substitution G A intron_variant MELA-AU 17 73242529 73242529 single base substitution G A upstream_gene_variant MELA-AU 17 73242565 73242565 single base substitution C A intron_variant MELA-AU 17 73242565 73242565 single base substitution C A upstream_gene_variant MELA-AU 17 73242899 73242899 single base substitution G A intron_variant MELA-AU 17 73242899 73242899 single base substitution G A upstream_gene_variant MELA-AU 17 73243025 73243025 single base substitution G A intron_variant MELA-AU 17 73243025 73243025 single base substitution G A upstream_gene_variant MELA-AU 17 73243149 73243149 single base substitution G A intron_variant MELA-AU 17 73243149 73243149 single base substitution G A upstream_gene_variant MELA-AU 17 73243223 73243224 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 73243223 73243224 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 73243291 73243291 single base substitution G A intron_variant MELA-AU 17 73243291 73243291 single base substitution G A upstream_gene_variant MELA-AU 17 73243397 73243397 single base substitution A G intron_variant MELA-AU 17 73243397 73243397 single base substitution A G upstream_gene_variant MELA-AU 17 73243400 73243400 single base substitution G A intron_variant MELA-AU 17 73243400 73243400 single base substitution G A upstream_gene_variant MELA-AU 17 73243478 73243478 single base substitution G A intron_variant MELA-AU 17 73243889 73243890 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 73244137 73244137 single base substitution C G intron_variant MELA-AU 17 73244161 73244162 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 73244186 73244187 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 73244644 73244644 single base substitution G A intron_variant MELA-AU 17 73244792 73244793 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 73245115 73245115 single base substitution T C intron_variant MELA-AU 17 73246691 73246691 single base substitution A G intron_variant MELA-AU 17 73247227 73247228 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 73247228 73247228 single base substitution G A intron_variant MELA-AU 17 73247237 73247237 single base substitution G A intron_variant MELA-AU 17 73247558 73247558 single base substitution G A intron_variant MELA-AU 17 73247714 73247714 single base substitution G A intron_variant MELA-AU 17 73248279 73248279 single base substitution C T intron_variant MELA-AU 17 73249225 73249225 single base substitution G A intron_variant MELA-AU 17 73249329 73249329 single base substitution C T intron_variant MELA-AU 17 73249546 73249546 single base substitution G A intron_variant MELA-AU 17 73249740 73249740 single base substitution C T intron_variant MELA-AU 17 73249816 73249816 single base substitution C T intron_variant MELA-AU 17 73251009 73251009 single base substitution G A intron_variant MELA-AU 17 73251141 73251141 single base substitution C T intron_variant MELA-AU 17 73251983 73251983 single base substitution T A intron_variant MELA-AU 17 73252152 73252152 single base substitution A G intron_variant MELA-AU 17 73252758 73252758 single base substitution A T intron_variant MELA-AU 17 73254067 73254067 single base substitution G A intron_variant MELA-AU 17 73254857 73254857 single base substitution G C intron_variant MELA-AU 17 73255058 73255059 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 73255876 73255876 single base substitution G A intron_variant MELA-AU 17 73256127 73256127 single base substitution G A intron_variant MELA-AU 17 73256411 73256411 single base substitution T A intron_variant MELA-AU 17 73257523 73257523 single base substitution G A intron_variant MELA-AU 17 73257535 73257535 single base substitution G A intron_variant MELA-AU 17 73257547 73257547 single base substitution G A intron_variant MELA-AU 17 73257560 73257560 single base substitution G A intron_variant MELA-AU 17 73257652 73257653 multiple base substitution (>=2bp and <=200bp) CC TT 5_prime_UTR_variant MELA-AU 17 73257652 73257653 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 17 73257652 73257653 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 73257652 73257653 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant G6K 16GG>AA MELA-AU 17 73257728 73257728 single base substitution G A 5_prime_UTR_variant MELA-AU 17 73257728 73257728 single base substitution G A intron_variant MELA-AU 17 73257728 73257728 single base substitution G A upstream_gene_variant MELA-AU 17 73257903 73257903 single base substitution G A intron_variant MELA-AU 17 73257903 73257903 single base substitution G A upstream_gene_variant MELA-AU 17 73257954 73257954 single base substitution C T intron_variant MELA-AU 17 73257954 73257954 single base substitution C T upstream_gene_variant MELA-AU 17 73258480 73258480 single base substitution C T upstream_gene_variant MELA-AU 17 73258565 73258565 single base substitution C T upstream_gene_variant MELA-AU 17 73260580 73260580 single base substitution C T upstream_gene_variant MELA-AU 17 73261134 73261134 single base substitution T C upstream_gene_variant MELA-AU 17 73261137 73261157 deletion of <=200bp TTTTGAGACGAAGTCTCGCTC - upstream_gene_variant MELA-AU 17 73263054 73263054 single base substitution G A upstream_gene_variant ORCA-IN 17 73255287 73255287 single base substitution G T intron_variant ORCA-IN 17 73263052 73263052 single base substitution C T upstream_gene_variant OV-AU 17 73231403 73231403 single base substitution T C downstream_gene_variant OV-AU 17 73237097 73237097 single base substitution C T 3_prime_UTR_variant OV-AU 17 73237097 73237097 single base substitution C T downstream_gene_variant OV-AU 17 73237097 73237097 single base substitution C T exon_variant OV-AU 17 73237097 73237097 single base substitution C T missense_variant A208T 622G>A OV-AU 17 73237097 73237097 single base substitution C T missense_variant A258T 772G>A OV-AU 17 73237097 73237097 single base substitution C T missense_variant A297T 889G>A OV-AU 17 73237097 73237097 single base substitution C T missense_variant A330T 988G>A OV-AU 17 73237097 73237097 single base substitution C T upstream_gene_variant OV-AU 17 73237836 73237836 single base substitution C A downstream_gene_variant OV-AU 17 73237836 73237836 single base substitution C A exon_variant OV-AU 17 73237836 73237836 single base substitution C A intron_variant OV-AU 17 73237836 73237836 single base substitution C A upstream_gene_variant OV-AU 17 73239914 73239914 single base substitution C G intron_variant OV-AU 17 73239914 73239914 single base substitution C G upstream_gene_variant OV-AU 17 73241312 73241312 single base substitution T C intron_variant OV-AU 17 73241312 73241312 single base substitution T C upstream_gene_variant OV-AU 17 73248152 73248152 single base substitution C T intron_variant OV-AU 17 73249856 73249856 single base substitution C G intron_variant OV-AU 17 73254851 73254851 single base substitution A C intron_variant OV-AU 17 73255159 73255159 single base substitution C T intron_variant OV-AU 17 73257576 73257576 single base substitution A G intron_variant OV-AU 17 73258566 73258566 single base substitution C T upstream_gene_variant PACA-AU 17 73235637 73235637 single base substitution C T 3_prime_UTR_variant PACA-AU 17 73235637 73235637 single base substitution C T downstream_gene_variant PACA-AU 17 73235637 73235637 single base substitution C T exon_variant PACA-AU 17 73235637 73235637 single base substitution C T intron_variant PACA-AU 17 73235637 73235637 single base substitution C T synonymous_variant V411V 1233G>A PACA-AU 17 73235637 73235637 single base substitution C T synonymous_variant V461V 1383G>A PACA-AU 17 73235637 73235637 single base substitution C T synonymous_variant V500V 1500G>A PACA-AU 17 73235637 73235637 single base substitution C T synonymous_variant V533V 1599G>A PACA-AU 17 73235637 73235637 single base substitution C T upstream_gene_variant PACA-AU 17 73257940 73257940 single base substitution G T intron_variant PACA-AU 17 73257940 73257940 single base substitution G T upstream_gene_variant PACA-AU 17 73263391 73263391 single base substitution G C upstream_gene_variant PACA-CA 17 73231581 73231581 single base substitution G A downstream_gene_variant PACA-CA 17 73236263 73236263 single base substitution C G downstream_gene_variant PACA-CA 17 73236263 73236263 single base substitution C G exon_variant PACA-CA 17 73236263 73236263 single base substitution C G intron_variant PACA-CA 17 73236263 73236263 single base substitution C G upstream_gene_variant PACA-CA 17 73241686 73241686 single base substitution G A intron_variant PACA-CA 17 73241686 73241686 single base substitution G A upstream_gene_variant PACA-CA 17 73244642 73244642 insertion of <=200bp - GGAT intron_variant PACA-CA 17 73246180 73246180 single base substitution A G intron_variant PACA-CA 17 73248717 73248717 insertion of <=200bp - CCAAG intron_variant PACA-CA 17 73250485 73250485 single base substitution G A intron_variant PACA-CA 17 73252132 73252132 single base substitution C T intron_variant PACA-CA 17 73261146 73261146 single base substitution G A upstream_gene_variant PACA-CA 17 73262003 73262004 deletion of <=200bp AG - upstream_gene_variant PACA-CA 17 73262973 73262973 single base substitution G A upstream_gene_variant PAEN-AU 17 73229755 73229755 single base substitution G A downstream_gene_variant PAEN-AU 17 73251527 73251527 single base substitution T C intron_variant PAEN-AU 17 73257125 73257125 single base substitution G A intron_variant PAEN-IT 17 73251103 73251103 single base substitution C A intron_variant PBCA-DE 17 73234018 73234018 single base substitution C T 3_prime_UTR_variant PBCA-DE 17 73234018 73234018 single base substitution C T downstream_gene_variant PBCA-DE 17 73234018 73234018 single base substitution C T exon_variant PBCA-DE 17 73234018 73234018 single base substitution C T intron_variant PBCA-DE 17 73243186 73243186 deletion of <=200bp A - intron_variant PBCA-DE 17 73243186 73243186 deletion of <=200bp A - upstream_gene_variant PBCA-DE 17 73245456 73245456 single base substitution T C intron_variant PBCA-DE 17 73257986 73257986 single base substitution C T intron_variant PBCA-DE 17 73257986 73257986 single base substitution C T upstream_gene_variant PBCA-DE 17 73259993 73259993 single base substitution G A upstream_gene_variant PBCA-DE 17 73261548 73261548 single base substitution G A upstream_gene_variant PBCA-DE 17 73263283 73263283 single base substitution C A upstream_gene_variant PRAD-CA 17 73230732 73230732 single base substitution G T downstream_gene_variant PRAD-CA 17 73236513 73236513 single base substitution C A 3_prime_UTR_variant PRAD-CA 17 73236513 73236513 single base substitution C A downstream_gene_variant PRAD-CA 17 73236513 73236513 single base substitution C A exon_variant PRAD-CA 17 73236513 73236513 single base substitution C A intron_variant PRAD-CA 17 73236513 73236513 single base substitution C A upstream_gene_variant PRAD-CA 17 73247135 73247135 single base substitution C G intron_variant PRAD-CA 17 73249749 73249749 single base substitution G A intron_variant PRAD-CA 17 73257695 73257695 single base substitution C G 5_prime_UTR_variant PRAD-CA 17 73257695 73257695 single base substitution C G exon_variant PRAD-CA 17 73257695 73257695 single base substitution C G intron_variant PRAD-CA 17 73257695 73257695 single base substitution C G upstream_gene_variant PRAD-UK 17 73245454 73245454 single base substitution T A intron_variant PRAD-UK 17 73253853 73253853 single base substitution T C intron_variant PRAD-UK 17 73258229 73258229 single base substitution A G intron_variant PRAD-UK 17 73258229 73258229 single base substitution A G upstream_gene_variant PRAD-UK 17 73259206 73259206 single base substitution C T upstream_gene_variant PRAD-US 17 73235138 73235138 single base substitution C T 3_prime_UTR_variant PRAD-US 17 73235138 73235138 single base substitution C T downstream_gene_variant PRAD-US 17 73235138 73235138 single base substitution C T exon_variant PRAD-US 17 73235138 73235138 single base substitution C T intron_variant PRAD-US 17 73235138 73235138 single base substitution C T missense_variant D481N 1441G>A PRAD-US 17 73235138 73235138 single base substitution C T missense_variant D531N 1591G>A PRAD-US 17 73235138 73235138 single base substitution C T missense_variant D570N 1708G>A PRAD-US 17 73235138 73235138 single base substitution C T missense_variant D603N 1807G>A PRAD-US 17 73235138 73235138 single base substitution C T missense_variant D9N 25G>A PRAD-US 17 73235138 73235138 single base substitution C T upstream_gene_variant READ-US 17 73257639 73257639 single base substitution C T 5_prime_UTR_variant READ-US 17 73257639 73257639 single base substitution C T exon_variant READ-US 17 73257639 73257639 single base substitution C T intron_variant READ-US 17 73257639 73257639 single base substitution C T synonymous_variant E10E 30G>A RECA-EU 17 73232918 73232918 single base substitution C T 3_prime_UTR_variant RECA-EU 17 73232918 73232918 single base substitution C T downstream_gene_variant RECA-EU 17 73232918 73232918 single base substitution C T exon_variant RECA-EU 17 73259336 73259336 single base substitution T C upstream_gene_variant SKCA-BR 17 73229462 73229466 deletion of <=200bp TTTTC - downstream_gene_variant SKCA-BR 17 73234012 73234012 single base substitution C T 3_prime_UTR_variant SKCA-BR 17 73234012 73234012 single base substitution C T downstream_gene_variant SKCA-BR 17 73234012 73234012 single base substitution C T exon_variant SKCA-BR 17 73234012 73234012 single base substitution C T intron_variant SKCA-BR 17 73242532 73242532 single base substitution G A intron_variant SKCA-BR 17 73242532 73242532 single base substitution G A upstream_gene_variant SKCA-BR 17 73243307 73243307 single base substitution C T intron_variant SKCA-BR 17 73243307 73243307 single base substitution C T upstream_gene_variant SKCA-BR 17 73243835 73243835 single base substitution G A intron_variant SKCA-BR 17 73243901 73243901 single base substitution C T intron_variant SKCA-BR 17 73244339 73244339 single base substitution T G intron_variant SKCA-BR 17 73246843 73246844 deletion of <=200bp CA - intron_variant SKCA-BR 17 73250704 73250705 deletion of <=200bp TA - intron_variant SKCA-BR 17 73252693 73252693 single base substitution C A intron_variant SKCA-BR 17 73252746 73252746 single base substitution A G intron_variant SKCA-BR 17 73253369 73253369 insertion of <=200bp - CCCA intron_variant SKCA-BR 17 73254251 73254251 single base substitution A C intron_variant SKCA-BR 17 73255033 73255035 deletion of <=200bp CTT - intron_variant SKCA-BR 17 73255313 73255313 single base substitution G A intron_variant SKCA-BR 17 73257655 73257655 single base substitution T C 5_prime_UTR_variant SKCA-BR 17 73257655 73257655 single base substitution T C exon_variant SKCA-BR 17 73257655 73257655 single base substitution T C intron_variant SKCA-BR 17 73257655 73257655 single base substitution T C missense_variant E5G 14A>G SKCA-BR 17 73257755 73257755 single base substitution G A 5_prime_UTR_variant SKCA-BR 17 73257755 73257755 single base substitution G A intron_variant SKCA-BR 17 73257755 73257755 single base substitution G A upstream_gene_variant SKCA-BR 17 73259118 73259118 single base substitution G A upstream_gene_variant SKCA-BR 17 73259177 73259177 single base substitution A G upstream_gene_variant SKCA-BR 17 73260298 73260298 single base substitution A G upstream_gene_variant SKCM-US 17 73229030 73229030 single base substitution A G downstream_gene_variant SKCM-US 17 73234405 73234405 single base substitution G A 3_prime_UTR_variant SKCM-US 17 73234405 73234405 single base substitution G A downstream_gene_variant SKCM-US 17 73234405 73234405 single base substitution G A exon_variant SKCM-US 17 73234405 73234405 single base substitution G A intron_variant SKCM-US 17 73234405 73234405 single base substitution G A synonymous_variant G587G 1761C>T SKCM-US 17 73234405 73234405 single base substitution G A synonymous_variant G637G 1911C>T SKCM-US 17 73234405 73234405 single base substitution G A synonymous_variant G676G 2028C>T SKCM-US 17 73234405 73234405 single base substitution G A synonymous_variant G709G 2127C>T SKCM-US 17 73237075 73237075 single base substitution C G 3_prime_UTR_variant SKCM-US 17 73237075 73237075 single base substitution C G downstream_gene_variant SKCM-US 17 73237075 73237075 single base substitution C G exon_variant SKCM-US 17 73237075 73237075 single base substitution C G missense_variant S215T 644G>C SKCM-US 17 73237075 73237075 single base substitution C G missense_variant S265T 794G>C SKCM-US 17 73237075 73237075 single base substitution C G missense_variant S304T 911G>C SKCM-US 17 73237075 73237075 single base substitution C G missense_variant S337T 1010G>C SKCM-US 17 73237075 73237075 single base substitution C G upstream_gene_variant SKCM-US 17 73237732 73237749 deletion of <=200bp GTTTAAATAAAGTCCGCC - 3_prime_UTR_variant SKCM-US 17 73237732 73237749 deletion of <=200bp GTTTAAATAAAGTCCGCC - disruptive_inframe_deletion RRTLFKL137I SKCM-US 17 73237732 73237749 deletion of <=200bp GTTTAAATAAAGTCCGCC - disruptive_inframe_deletion RRTLFKL187I SKCM-US 17 73237732 73237749 deletion of <=200bp GTTTAAATAAAGTCCGCC - disruptive_inframe_deletion RRTLFKL226I SKCM-US 17 73237732 73237749 deletion of <=200bp GTTTAAATAAAGTCCGCC - disruptive_inframe_deletion RRTLFKL259I SKCM-US 17 73237732 73237749 deletion of <=200bp GTTTAAATAAAGTCCGCC - downstream_gene_variant SKCM-US 17 73237732 73237749 deletion of <=200bp GTTTAAATAAAGTCCGCC - exon_variant SKCM-US 17 73237732 73237749 deletion of <=200bp GTTTAAATAAAGTCCGCC - upstream_gene_variant SKCM-US 17 73237751 73237751 single base substitution C T 3_prime_UTR_variant SKCM-US 17 73237751 73237751 single base substitution C T downstream_gene_variant SKCM-US 17 73237751 73237751 single base substitution C T exon_variant SKCM-US 17 73237751 73237751 single base substitution C T synonymous_variant K136K 408G>A SKCM-US 17 73237751 73237751 single base substitution C T synonymous_variant K186K 558G>A SKCM-US 17 73237751 73237751 single base substitution C T synonymous_variant K225K 675G>A SKCM-US 17 73237751 73237751 single base substitution C T synonymous_variant K258K 774G>A SKCM-US 17 73237751 73237751 single base substitution C T upstream_gene_variant SKCM-US 17 73238472 73238472 single base substitution A G 3_prime_UTR_variant SKCM-US 17 73238472 73238472 single base substitution A G downstream_gene_variant SKCM-US 17 73238472 73238472 single base substitution A G exon_variant SKCM-US 17 73238472 73238472 single base substitution A G missense_variant M109T 326T>C SKCM-US 17 73238472 73238472 single base substitution A G missense_variant M159T 476T>C SKCM-US 17 73238472 73238472 single base substitution A G missense_variant M198T 593T>C SKCM-US 17 73238472 73238472 single base substitution A G missense_variant M231T 692T>C SKCM-US 17 73238472 73238472 single base substitution A G upstream_gene_variant SKCM-US 17 73239173 73239173 single base substitution G A 3_prime_UTR_variant SKCM-US 17 73239173 73239173 single base substitution G A downstream_gene_variant SKCM-US 17 73239173 73239173 single base substitution G A exon_variant SKCM-US 17 73239173 73239173 single base substitution G A intron_variant SKCM-US 17 73239173 73239173 single base substitution G A missense_variant P134S 400C>T SKCM-US 17 73239173 73239173 single base substitution G A missense_variant P167S 499C>T SKCM-US 17 73239173 73239173 single base substitution G A missense_variant P45S 133C>T SKCM-US 17 73239173 73239173 single base substitution G A missense_variant P95S 283C>T SKCM-US 17 73239173 73239173 single base substitution G A upstream_gene_variant SKCM-US 17 73259493 73259493 single base substitution G T upstream_gene_variant SKCM-US 17 73259559 73259559 single base substitution C T upstream_gene_variant STAD-US 17 73227720 73227720 single base substitution T C downstream_gene_variant STAD-US 17 73229063 73229063 single base substitution G A downstream_gene_variant STAD-US 17 73230741 73230741 single base substitution G A downstream_gene_variant STAD-US 17 73230754 73230754 single base substitution T C downstream_gene_variant STAD-US 17 73231232 73231232 single base substitution G A downstream_gene_variant STAD-US 17 73231771 73231771 single base substitution C T downstream_gene_variant STAD-US 17 73235069 73235069 single base substitution C G 3_prime_UTR_variant STAD-US 17 73235069 73235069 single base substitution C G downstream_gene_variant STAD-US 17 73235069 73235069 single base substitution C G exon_variant STAD-US 17 73235069 73235069 single base substitution C G intron_variant STAD-US 17 73235069 73235069 single base substitution C G missense_variant V32L 94G>C STAD-US 17 73235069 73235069 single base substitution C G missense_variant V504L 1510G>C STAD-US 17 73235069 73235069 single base substitution C G missense_variant V554L 1660G>C STAD-US 17 73235069 73235069 single base substitution C G missense_variant V593L 1777G>C STAD-US 17 73235069 73235069 single base substitution C G missense_variant V626L 1876G>C STAD-US 17 73235069 73235069 single base substitution C G upstream_gene_variant STAD-US 17 73235131 73235131 single base substitution T G 3_prime_UTR_variant STAD-US 17 73235131 73235131 single base substitution T G downstream_gene_variant STAD-US 17 73235131 73235131 single base substitution T G exon_variant STAD-US 17 73235131 73235131 single base substitution T G intron_variant STAD-US 17 73235131 73235131 single base substitution T G missense_variant N11T 32A>C STAD-US 17 73235131 73235131 single base substitution T G missense_variant N483T 1448A>C STAD-US 17 73235131 73235131 single base substitution T G missense_variant N533T 1598A>C STAD-US 17 73235131 73235131 single base substitution T G missense_variant N572T 1715A>C STAD-US 17 73235131 73235131 single base substitution T G missense_variant N605T 1814A>C STAD-US 17 73235131 73235131 single base substitution T G upstream_gene_variant STAD-US 17 73235918 73235918 single base substitution G A 3_prime_UTR_variant STAD-US 17 73235918 73235918 single base substitution G A downstream_gene_variant STAD-US 17 73235918 73235918 single base substitution G A exon_variant STAD-US 17 73235918 73235918 single base substitution G A missense_variant A390V 1169C>T STAD-US 17 73235918 73235918 single base substitution G A missense_variant A440V 1319C>T STAD-US 17 73235918 73235918 single base substitution G A missense_variant A479V 1436C>T STAD-US 17 73235918 73235918 single base substitution G A missense_variant A512V 1535C>T STAD-US 17 73235918 73235918 single base substitution G A upstream_gene_variant STAD-US 17 73235959 73235959 single base substitution G A 3_prime_UTR_variant STAD-US 17 73235959 73235959 single base substitution G A downstream_gene_variant STAD-US 17 73235959 73235959 single base substitution G A exon_variant STAD-US 17 73235959 73235959 single base substitution G A synonymous_variant P376P 1128C>T STAD-US 17 73235959 73235959 single base substitution G A synonymous_variant P426P 1278C>T STAD-US 17 73235959 73235959 single base substitution G A synonymous_variant P465P 1395C>T STAD-US 17 73235959 73235959 single base substitution G A synonymous_variant P498P 1494C>T STAD-US 17 73235959 73235959 single base substitution G A upstream_gene_variant STAD-US 17 73236020 73236020 single base substitution C T 3_prime_UTR_variant STAD-US 17 73236020 73236020 single base substitution C T downstream_gene_variant STAD-US 17 73236020 73236020 single base substitution C T exon_variant STAD-US 17 73236020 73236020 single base substitution C T missense_variant S356N 1067G>A STAD-US 17 73236020 73236020 single base substitution C T missense_variant S406N 1217G>A STAD-US 17 73236020 73236020 single base substitution C T missense_variant S445N 1334G>A STAD-US 17 73236020 73236020 single base substitution C T missense_variant S478N 1433G>A STAD-US 17 73236020 73236020 single base substitution C T upstream_gene_variant STAD-US 17 73236985 73236985 single base substitution C T 3_prime_UTR_variant STAD-US 17 73236985 73236985 single base substitution C T downstream_gene_variant STAD-US 17 73236985 73236985 single base substitution C T exon_variant STAD-US 17 73236985 73236985 single base substitution C T missense_variant R245Q 734G>A STAD-US 17 73236985 73236985 single base substitution C T missense_variant R295Q 884G>A STAD-US 17 73236985 73236985 single base substitution C T missense_variant R334Q 1001G>A STAD-US 17 73236985 73236985 single base substitution C T missense_variant R367Q 1100G>A STAD-US 17 73236985 73236985 single base substitution C T upstream_gene_variant STAD-US 17 73237030 73237030 single base substitution C T 3_prime_UTR_variant STAD-US 17 73237030 73237030 single base substitution C T downstream_gene_variant STAD-US 17 73237030 73237030 single base substitution C T exon_variant STAD-US 17 73237030 73237030 single base substitution C T missense_variant G230D 689G>A STAD-US 17 73237030 73237030 single base substitution C T missense_variant G280D 839G>A STAD-US 17 73237030 73237030 single base substitution C T missense_variant G319D 956G>A STAD-US 17 73237030 73237030 single base substitution C T missense_variant G352D 1055G>A STAD-US 17 73237030 73237030 single base substitution C T upstream_gene_variant STAD-US 17 73237561 73237561 single base substitution A G 3_prime_UTR_variant STAD-US 17 73237561 73237561 single base substitution A G downstream_gene_variant STAD-US 17 73237561 73237561 single base substitution A G exon_variant STAD-US 17 73237561 73237561 single base substitution A G missense_variant V167A 500T>C STAD-US 17 73237561 73237561 single base substitution A G missense_variant V217A 650T>C STAD-US 17 73237561 73237561 single base substitution A G missense_variant V256A 767T>C STAD-US 17 73237561 73237561 single base substitution A G missense_variant V289A 866T>C STAD-US 17 73237561 73237561 single base substitution A G upstream_gene_variant STAD-US 17 73238457 73238457 single base substitution C T 3_prime_UTR_variant STAD-US 17 73238457 73238457 single base substitution C T downstream_gene_variant STAD-US 17 73238457 73238457 single base substitution C T exon_variant STAD-US 17 73238457 73238457 single base substitution C T missense_variant S114N 341G>A STAD-US 17 73238457 73238457 single base substitution C T missense_variant S164N 491G>A STAD-US 17 73238457 73238457 single base substitution C T missense_variant S203N 608G>A STAD-US 17 73238457 73238457 single base substitution C T missense_variant S236N 707G>A STAD-US 17 73238457 73238457 single base substitution C T upstream_gene_variant STAD-US 17 73239146 73239146 single base substitution T C downstream_gene_variant STAD-US 17 73239146 73239146 single base substitution T C intron_variant STAD-US 17 73239146 73239146 single base substitution T C missense_variant K104E 310A>G STAD-US 17 73239146 73239146 single base substitution T C missense_variant K143E 427A>G STAD-US 17 73239146 73239146 single base substitution T C missense_variant K176E 526A>G STAD-US 17 73239146 73239146 single base substitution T C missense_variant K54E 160A>G STAD-US 17 73239146 73239146 single base substitution T C splice_region_variant STAD-US 17 73239146 73239146 single base substitution T C upstream_gene_variant STAD-US 17 73239175 73239175 deletion of <=200bp T - 3_prime_UTR_variant STAD-US 17 73239175 73239175 deletion of <=200bp T - downstream_gene_variant STAD-US 17 73239175 73239175 deletion of <=200bp T - exon_variant STAD-US 17 73239175 73239175 deletion of <=200bp T - frameshift_variant N133 STAD-US 17 73239175 73239175 deletion of <=200bp T - frameshift_variant N166 STAD-US 17 73239175 73239175 deletion of <=200bp T - frameshift_variant N44 STAD-US 17 73239175 73239175 deletion of <=200bp T - frameshift_variant N94 STAD-US 17 73239175 73239175 deletion of <=200bp T - intron_variant STAD-US 17 73239175 73239175 deletion of <=200bp T - upstream_gene_variant STAD-US 17 73239539 73239539 single base substitution A G 3_prime_UTR_variant STAD-US 17 73239539 73239539 single base substitution A G downstream_gene_variant STAD-US 17 73239539 73239539 single base substitution A G exon_variant STAD-US 17 73239539 73239539 single base substitution A G missense_variant L105P 314T>C STAD-US 17 73239539 73239539 single base substitution A G missense_variant L138P 413T>C STAD-US 17 73239539 73239539 single base substitution A G missense_variant L16P 47T>C STAD-US 17 73239539 73239539 single base substitution A G missense_variant L66P 197T>C STAD-US 17 73239539 73239539 single base substitution A G upstream_gene_variant STAD-US 17 73240709 73240709 single base substitution G A 3_prime_UTR_variant STAD-US 17 73240709 73240709 single base substitution G A exon_variant STAD-US 17 73240709 73240709 single base substitution G A intron_variant STAD-US 17 73240709 73240709 single base substitution G A synonymous_variant V25V 75C>T STAD-US 17 73240709 73240709 single base substitution G A synonymous_variant V97V 291C>T STAD-US 17 73240709 73240709 single base substitution G A upstream_gene_variant STAD-US 17 73259534 73259534 single base substitution C A upstream_gene_variant UCEC-US 17 73228951 73228951 single base substitution A G downstream_gene_variant UCEC-US 17 73228981 73228981 single base substitution G A downstream_gene_variant UCEC-US 17 73229176 73229176 single base substitution G A downstream_gene_variant UCEC-US 17 73230992 73230992 single base substitution C T downstream_gene_variant UCEC-US 17 73231285 73231285 single base substitution G A downstream_gene_variant UCEC-US 17 73231291 73231291 single base substitution C T downstream_gene_variant UCEC-US 17 73234436 73234436 single base substitution G A 3_prime_UTR_variant UCEC-US 17 73234436 73234436 single base substitution G A downstream_gene_variant UCEC-US 17 73234436 73234436 single base substitution G A exon_variant UCEC-US 17 73234436 73234436 single base substitution G A intron_variant UCEC-US 17 73234436 73234436 single base substitution G A missense_variant A577V 1730C>T UCEC-US 17 73234436 73234436 single base substitution G A missense_variant A627V 1880C>T UCEC-US 17 73234436 73234436 single base substitution G A missense_variant A666V 1997C>T UCEC-US 17 73234436 73234436 single base substitution G A missense_variant A699V 2096C>T UCEC-US 17 73234827 73234827 single base substitution A G 3_prime_UTR_variant UCEC-US 17 73234827 73234827 single base substitution A G downstream_gene_variant UCEC-US 17 73234827 73234827 single base substitution A G exon_variant UCEC-US 17 73234827 73234827 single base substitution A G missense_variant L30S 89T>C UCEC-US 17 73234827 73234827 single base substitution A G missense_variant L534S 1601T>C UCEC-US 17 73234827 73234827 single base substitution A G missense_variant L584S 1751T>C UCEC-US 17 73234827 73234827 single base substitution A G missense_variant L623S 1868T>C UCEC-US 17 73234827 73234827 single base substitution A G missense_variant L62S 185T>C UCEC-US 17 73234827 73234827 single base substitution A G missense_variant L656S 1967T>C UCEC-US 17 73235896 73235896 single base substitution G A 3_prime_UTR_variant UCEC-US 17 73235896 73235896 single base substitution G A downstream_gene_variant UCEC-US 17 73235896 73235896 single base substitution G A exon_variant UCEC-US 17 73235896 73235896 single base substitution G A synonymous_variant L397L 1191C>T UCEC-US 17 73235896 73235896 single base substitution G A synonymous_variant L447L 1341C>T UCEC-US 17 73235896 73235896 single base substitution G A synonymous_variant L486L 1458C>T UCEC-US 17 73235896 73235896 single base substitution G A synonymous_variant L519L 1557C>T UCEC-US 17 73235896 73235896 single base substitution G A upstream_gene_variant UCEC-US 17 73235932 73235932 single base substitution C T 3_prime_UTR_variant UCEC-US 17 73235932 73235932 single base substitution C T downstream_gene_variant UCEC-US 17 73235932 73235932 single base substitution C T exon_variant UCEC-US 17 73235932 73235932 single base substitution C T synonymous_variant A385A 1155G>A UCEC-US 17 73235932 73235932 single base substitution C T synonymous_variant A435A 1305G>A UCEC-US 17 73235932 73235932 single base substitution C T synonymous_variant A474A 1422G>A UCEC-US 17 73235932 73235932 single base substitution C T synonymous_variant A507A 1521G>A UCEC-US 17 73235932 73235932 single base substitution C T upstream_gene_variant UCEC-US 17 73237110 73237110 single base substitution C T 3_prime_UTR_variant UCEC-US 17 73237110 73237110 single base substitution C T downstream_gene_variant UCEC-US 17 73237110 73237110 single base substitution C T exon_variant UCEC-US 17 73237110 73237110 single base substitution C T synonymous_variant T203T 609G>A UCEC-US 17 73237110 73237110 single base substitution C T synonymous_variant T253T 759G>A UCEC-US 17 73237110 73237110 single base substitution C T synonymous_variant T292T 876G>A UCEC-US 17 73237110 73237110 single base substitution C T synonymous_variant T325T 975G>A UCEC-US 17 73237110 73237110 single base substitution C T upstream_gene_variant UCEC-US 17 73238450 73238450 single base substitution C A 3_prime_UTR_variant UCEC-US 17 73238450 73238450 single base substitution C A downstream_gene_variant UCEC-US 17 73238450 73238450 single base substitution C A exon_variant UCEC-US 17 73238450 73238450 single base substitution C A missense_variant E116D 348G>T UCEC-US 17 73238450 73238450 single base substitution C A missense_variant E166D 498G>T UCEC-US 17 73238450 73238450 single base substitution C A missense_variant E205D 615G>T UCEC-US 17 73238450 73238450 single base substitution C A missense_variant E238D 714G>T UCEC-US 17 73238450 73238450 single base substitution C A upstream_gene_variant UCEC-US 17 73238523 73238523 single base substitution C T 3_prime_UTR_variant UCEC-US 17 73238523 73238523 single base substitution C T downstream_gene_variant UCEC-US 17 73238523 73238523 single base substitution C T exon_variant UCEC-US 17 73238523 73238523 single base substitution C T missense_variant R142H 425G>A UCEC-US 17 73238523 73238523 single base substitution C T missense_variant R181H 542G>A UCEC-US 17 73238523 73238523 single base substitution C T missense_variant R214H 641G>A UCEC-US 17 73238523 73238523 single base substitution C T missense_variant R92H 275G>A UCEC-US 17 73238523 73238523 single base substitution C T upstream_gene_variant UCEC-US 17 73238545 73238545 single base substitution G A 3_prime_UTR_variant UCEC-US 17 73238545 73238545 single base substitution G A downstream_gene_variant UCEC-US 17 73238545 73238545 single base substitution G A exon_variant UCEC-US 17 73238545 73238545 single base substitution G A missense_variant R135W 403C>T UCEC-US 17 73238545 73238545 single base substitution G A missense_variant R174W 520C>T UCEC-US 17 73238545 73238545 single base substitution G A missense_variant R207W 619C>T UCEC-US 17 73238545 73238545 single base substitution G A missense_variant R85W 253C>T UCEC-US 17 73238545 73238545 single base substitution G A upstream_gene_variant UCEC-US 17 73238920 73238920 single base substitution C T 3_prime_UTR_variant UCEC-US 17 73238920 73238920 single base substitution C T downstream_gene_variant UCEC-US 17 73238920 73238920 single base substitution C T exon_variant UCEC-US 17 73238920 73238920 single base substitution C T missense_variant V129M 385G>A UCEC-US 17 73238920 73238920 single base substitution C T missense_variant V168M 502G>A UCEC-US 17 73238920 73238920 single base substitution C T missense_variant V201M 601G>A UCEC-US 17 73238920 73238920 single base substitution C T missense_variant V79M 235G>A UCEC-US 17 73238920 73238920 single base substitution C T upstream_gene_variant UCEC-US 17 73239628 73239628 single base substitution C A 3_prime_UTR_variant UCEC-US 17 73239628 73239628 single base substitution C A 5_prime_UTR_variant UCEC-US 17 73239628 73239628 single base substitution C A exon_variant UCEC-US 17 73239628 73239628 single base substitution C A missense_variant E108D 324G>T UCEC-US 17 73239628 73239628 single base substitution C A missense_variant E36D 108G>T UCEC-US 17 73239628 73239628 single base substitution C A missense_variant E75D 225G>T UCEC-US 17 73239628 73239628 single base substitution C A upstream_gene_variant UCEC-US 17 73240784 73240784 single base substitution G A 3_prime_UTR_variant UCEC-US 17 73240784 73240784 single base substitution G A 5_prime_UTR_variant UCEC-US 17 73240784 73240784 single base substitution G A exon_variant UCEC-US 17 73240784 73240784 single base substitution G A intron_variant UCEC-US 17 73240784 73240784 single base substitution G A synonymous_variant C72C 216C>T UCEC-US 17 73240784 73240784 single base substitution G A upstream_gene_variant UCEC-US 17 73258680 73258680 single base substitution G T upstream_gene_variant UCEC-US 17 73258940 73258940 single base substitution A G upstream_gene_variant UCEC-US 17 73261847 73261847 single base substitution G A upstream_gene_variant UCEC-US 17 73262836 73262836 single base substitution G A upstream_gene_variant UCEC-US 17 73262994 73262994 single base substitution T C upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-CJ-4893-01 COSM3773830 c.1722G>C p.P574P Substitution - coding silent 17:75239433-75239433 - PT35 COSM5913884 c.947-1G>A p.? Unknown 17:75241058-75241058 - PR-09-3687 COSM244691 c.45A>T p.K15N Substitution - Missense 17:75246792-75246792 - TCGA-G3-A7M7-01 COSM4929913 c.1197C>G p.L399L Substitution - coding silent 17:75240408-75240408 - TCGA-C5-A1BQ-01 COSM4842276 c.1349C>A p.S450* Substitution - Nonsense 17:75240023-75240023 - SF539 COSM1680082 c.734G>A p.R245K Substitution - Missense 17:75242349-75242349 - TCGA-G4-6302-01 COSM3691793 c.915G>T p.E305D Substitution - Missense 17:75241431-75241431 - CHC1035T COSM3668052 c.1720C>G p.P574A Substitution - Missense 17:75239435-75239435 - CHC433T COSM250963 c.542T>C p.L181P Substitution - Missense 17:75242898-75242898 - H1155 COSM1195688 c.1033G>A p.A345T Substitution - Missense 17:75240971-75240971 - Pat_41_B COSM5853464 c.121G>A p.E41K Substitution - Missense 17:75246716-75246716 - TCGA-DI-A0WH-01 COSM984317 c.616G>C p.A206P Substitution - Missense 17:75242467-75242467 - 2_PRE-TREATMENT COSM1721984 c.497delA p.N166fs*13 Deletion - Frameshift 17:75243094-75243094 - 36 COSM5733553 c.1769C>T p.S590L Substitution - Missense 17:75239386-75239386 - TCGA-13-0906-01 COSM118037 c.1723A>T p.K575* Substitution - Nonsense 17:75239432-75239432 - CHC1035T COSM3668052 c.1720C>G p.P574A Substitution - Missense 17:75239435-75239435 - SJHGG052_A COSM4969710 c.194C>T p.A65V Substitution - Missense 17:75246516-75246516 - STC297 COSM5055758 c.255_256insG p.K86fs*7 Insertion - Frameshift 17:75244663-75244664 - LU-1991 COSM5614507 c.71A>G p.E24G Substitution - Missense 17:75246766-75246766 - ESO-682 COSM1253203 c.1689G>A p.Q563Q Substitution - coding silent 17:75239466-75239466 - 3N64-VS-3T64 COSM4069522 c.1433G>A p.S478N Substitution - Missense 17:75239939-75239939 - TCGA-AP-A059-01 COSM984318 c.601G>A p.V201M Substitution - Missense 17:75242839-75242839 - 8013946 COSM3773273 c.1599G>A p.V533V Substitution - coding silent 17:75239556-75239556 - TCGA-B5-A0JY-01 COSM984319 c.324G>T p.E108D Substitution - Missense 17:75243547-75243547 - TCGA-ER-A2NG-06 COSM3522068 c.1010G>C p.S337T Substitution - Missense 17:75240994-75240994 - SC_9038 COSM5549861 c.1309G>A p.A437T Substitution - Missense 17:75240063-75240063 - SNUH_G16_S1 COSM4000297 c.1846G>A p.E616K Substitution - Missense 17:75239018-75239018 - TCGA-H4-A2HQ-01 COSM1303332 c.145C>A p.L49M Substitution - Missense 17:75246565-75246565 - SA065 COSM213151 c.399C>A p.D133E Substitution - Missense 17:75243472-75243472 - TCGA-EJ-5514-01 COSM1130167 c.1807G>A p.D603N Substitution - Missense 17:75239057-75239057 - TCGA-C5-A1BQ-01 COSM4842526 c.906C>G p.I302M Substitution - Missense 17:75241440-75241440 - TCGA-AP-A056-01 COSM984307 c.1967T>C p.L656S Substitution - Missense 17:75238746-75238746 - 880-01-8TD COSM5416050 c.1263+8C>T p.? Unknown 17:75240334-75240334 - 587256 COSM1208137 c.1439G>A p.G480D Substitution - Missense 17:75239933-75239933 - TCGA-D1-A0ZO-01 COSM984310 c.844G>A p.A282T Substitution - Missense 17:75241502-75241502 - TCGA-BR-4184-01 COSM4069522 c.1433G>A p.S478N Substitution - Missense 17:75239939-75239939 - YURISA COSM5387285 c.16_17GG>AA p.G6K Substitution - Missense 17:75261571-75261572 - TCGA-EB-A5UN-06 COSM3522072 c.499C>T p.P167S Substitution - Missense 17:75243092-75243092 - I2L-P7-Tumor-Organoid COSM5364381 c.256A>G p.K86E Substitution - Missense 17:75244663-75244663 - 4436_CLM COSM5755130 c.827T>C p.L276S Substitution - Missense 17:75241617-75241617 - TCGA-BR-8081-01 COSM4069519 c.1814A>C p.N605T Substitution - Missense 17:75239050-75239050 - LUAD_E00522 COSM352680 c.2119G>C p.E707Q Substitution - Missense 17:75238332-75238332 - TCGA-BT-A2LA-01 COSM1303331 c.862C>T p.R288W Substitution - Missense 17:75241484-75241484 - TCGA-DK-A1AE-01 COSM1303330 c.1620C>T p.L540L Substitution - coding silent 17:75239535-75239535 - 262LT COSM4381977 c.2152G>C p.E718Q Substitution - Missense 17:75238299-75238299 - CSB1 COSM5028369 c.487C>T p.R163C Substitution - Missense 17:75243104-75243104 - TCGA-D5-6539-01 COSM1385941 c.340G>A p.V114I Substitution - Missense 17:75243531-75243531 - TCGA-57-1584-01 COSM79365 c.1250G>A p.W417* Substitution - Nonsense 17:75240355-75240355 - TCGA-AP-A054-01 COSM984306 c.2096C>T p.A699V Substitution - Missense 17:75238355-75238355 - 4132_T COSM3958736 c.651G>C p.T217T Substitution - coding silent 17:75242432-75242432 - Pat_70_B COSM1721984 c.497delA p.N166fs*13 Deletion - Frameshift 17:75243094-75243094 - TCGA-Q1-A73O-01 COSM4834130 c.1112C>G p.S371C Substitution - Missense 17:75240892-75240892 - SC_9103 COSM5573605 c.747+9G>A p.? Unknown 17:75242327-75242327 - TCGA-D9-A4Z2-01 COSM311435 c.2127C>T p.G709G Substitution - coding silent 17:75238324-75238324 - TCGA-29-1698-01 COSM1324858 c.306G>T p.L102L Substitution - coding silent 17:75243565-75243565 - TCGA-HF-7132-01 COSM4069526 c.707G>A p.S236N Substitution - Missense 17:75242376-75242376 - TCGA-EE-A3AB-06 COSM3522071 c.692T>C p.M231T Substitution - Missense 17:75242391-75242391 - TCGA-BT-A20T-01 COSM417992 c.1498G>T p.V500F Substitution - Missense 17:75239874-75239874 - TCGA-BR-4292-01 COSM4069528 c.413T>C p.L138P Substitution - Missense 17:75243458-75243458 - TCGA-BR-8361-01 COSM4069524 c.1055G>A p.G352D Substitution - Missense 17:75240949-75240949 - HCT-116 COSM1680081 c.1894C>G p.L632V Substitution - Missense 17:75238970-75238970 - AOCS-155-3-5 COSM4139814 c.988G>A p.A330T Substitution - Missense 17:75241016-75241016 - 451 COSM1742492 c.677G>A p.R226K Substitution - Missense 17:75242406-75242406 - TCGA-D1-A17Q-01 COSM984308 c.1557C>T p.L519L Substitution - coding silent 17:75239815-75239815 - TCGA-AP-A059-01 COSM984320 c.216C>T p.C72C Substitution - coding silent 17:75244703-75244703 - CHC433T COSM250963 c.542T>C p.L181P Substitution - Missense 17:75242898-75242898 - TCGA-BR-8078-01 COSM4069518 c.1876G>C p.V626L Substitution - Missense 17:75238988-75238988 - pfg068T COSM4757402 c.142C>T p.R48* Substitution - Nonsense 17:75246568-75246568 - TCGA-BR-8078-01 COSM4069523 c.1100G>A p.R367Q Substitution - Missense 17:75240904-75240904 - Pat_58_B COSM5853465 c.79G>A p.E27K Substitution - Missense 17:75246758-75246758 - TCGA-FU-A40J-01 COSM4844075 c.514G>A p.E172K Substitution - Missense 17:75243077-75243077 - TCGA-A8-A06X-01 COSM437368 c.139G>T p.V47F Substitution - Missense 17:75246571-75246571 - TCGA-EB-A3Y7-01 COSM3522070 c.774G>A p.K258K Substitution - coding silent 17:75241670-75241670 - sysucc-882T COSM5447245 c.2071C>T p.R691W Substitution - Missense 17:75238380-75238380 - TCGA-AX-A0J1-01 COSM195315 c.975G>A p.T325T Substitution - coding silent 17:75241029-75241029 - CSCC-29-T COSM4456778 c.1020C>T p.S340S Substitution - coding silent 17:75240984-75240984 - HCC111T COSM5818562 c.716A>G p.D239G Substitution - Missense 17:75242367-75242367 - LUAD-RT-S01866 COSM385142 c.778C>T p.R260W Substitution - Missense 17:75241666-75241666 - TCGA-D1-A17H-01 COSM984315 c.641G>A p.R214H Substitution - Missense 17:75242442-75242442 - TCGA-CG-5730-01 COSM4069521 c.1494C>T p.P498P Substitution - coding silent 17:75239878-75239878 - YUGURT COSM5387284 c.19G>A p.E7K Substitution - Missense 17:75261569-75261569 - 61 COSM5741130 c.1001C>T p.T334M Substitution - Missense 17:75241003-75241003 - TCGA-BS-A0UV-01 COSM984316 c.619C>T p.R207W Substitution - Missense 17:75242464-75242464 - TCGA-BR-4184-01 COSM4069520 c.1535C>T p.A512V Substitution - Missense 17:75239837-75239837 - TCGA-BQ-5892-01 COSM2978723 c.903C>A p.V301V Substitution - coding silent 17:75241443-75241443 - TCGA-BT-A3PK-01 COSM3796077 c.436T>A p.S146T Substitution - Missense 17:75243155-75243155 - PT42 COSM2978740 c.126-7C>T p.? Unknown 17:75246591-75246591 - RK089_C01 COSM1630388 c.1989A>G p.E663E Substitution - coding silent 17:75238724-75238724 - TCGA-BR-A4QL-01 COSM4069527 c.526A>G p.K176E Substitution - Missense 17:75243065-75243065 - TCGA-F5-6864-01 COSM3421901 c.30G>A p.E10E Substitution - coding silent 17:75261558-75261558 - HCC1143 COSM33524 c.1721C>T p.P574L Substitution - Missense 17:75239434-75239434 - sysucc-1116T COSM5483047 c.1589C>T p.S530L Substitution - Missense 17:75239566-75239566 - S00936 COSM311435 c.2127C>T p.G709G Substitution - coding silent 17:75238324-75238324 - 587342 COSM1208136 c.65G>A p.R22H Substitution - Missense 17:75246772-75246772 - TCGA-BR-8081-01 COSM4069525 c.866T>C p.V289A Substitution - Missense 17:75241480-75241480 - YUSCA COSM5387281 c.341T>G p.V114G Substitution - Missense 17:75243530-75243530 - CHC1743T COSM4805780 c.22A>G p.S8G Substitution - Missense 17:75261566-75261566 - TCGA-BR-6452-01 COSM4069529 c.291C>T p.V97V Substitution - coding silent 17:75244628-75244628 - TCGA-P4-A5EA-01 COSM3989323 c.508G>C p.D170H Substitution - Missense 17:75243083-75243083 - TCGA-D1-A17Q-01 COSM984315 c.641G>A p.R214H Substitution - Missense 17:75242442-75242442 - LAU108 COSM232398 c.451C>T p.P151S Substitution - Missense 17:75243140-75243140 - SNU-175 COSM2978704 c.1823G>A p.R608H Substitution - Missense 17:75239041-75239041 - ESCC_72 COSM5634309 c.1441T>A p.S481T Substitution - Missense 17:75239931-75239931 - T1240 COSM4686851 c.262C>T p.R88C Substitution - Missense 17:75244657-75244657 - TCGA-D9-A4Z6-01 COSM3522069 c.855C>T p.N285N Substitution - coding silent 17:75241491-75241491 - CRC-17T COSM4000297 c.1846G>A p.E616K Substitution - Missense 17:75239018-75239018 - CHC1743T COSM4805780 c.22A>G p.S8G Substitution - Missense 17:75261566-75261566 - YUROC COSM5387280 c.1836C>T p.H612H Substitution - coding silent 17:75239028-75239028 - TCGA-D1-A103-01 COSM984309 c.1521G>A p.A507A Substitution - coding silent 17:75239851-75239851 - TCGA-A8-A07I-01 COSM437367 c.390G>A p.K130K Substitution - coding silent 17:75243481-75243481 - LP2000108-DNA_A01 COSM4408407 c.258G>T p.K86N Substitution - Missense 17:75244661-75244661 - Pat_58_A COSM5853465 c.79G>A p.E27K Substitution - Missense 17:75246758-75246758 - TCGA-AP-A059-01 COSM984313 c.714G>T p.E238D Substitution - Missense 17:75242369-75242369 - 19M COSM5578628 c.2101G>A p.G701R Substitution - Missense 17:75238350-75238350 - 2250255 COSM5030390 c.154C>T p.H52Y Substitution - Missense 17:75246556-75246556 - TC71 COSM2978702 c.1995T>C p.S665S Substitution - coding silent 17:75238718-75238718 - TCGA-22-4591-01 COSM707263 c.845C>T p.A282V Substitution - Missense 17:75241501-75241501 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.87726 17q25.1 606006

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G 3-UTRSNV . c.2169+1621T>C 17 73232742 HC A G Missense p.L138P c.413T>C 17 73239539 STAD A G Missense p.M231T c.692T>C 17 73238472 CM A T Missense p.S146T c.436T>A 17 73239236 BLCA C A Missense p.G352V c.1055G>T 17 73237030 LUAD C A Missense p.R367L c.1100G>T 17 73236985 STAD C A Missense p.V47F c.139G>T 17 73242652 BRCA C A Missense p.V500F c.1498G>T 17 73235955 BLCA CC TT Missense p.G243K c.727_728delinsAA 17 73238436 CM CC TT Missense p.G6K c.16_17delinsAA 17 73257652 CM CC TT SpliceDonorBlockSubstitution . c.300_300+1delinsAA 17 73240699 CM C G Missense p.S337T c.1010G>C 17 73237075 CM C G Synonymous p.P574P c.1722G>C 17 73235514 RCCC C T Missense p.D603N c.1807G>A 17 73235138 PRAD C T Missense p.G571S c.1711G>A 17 73235525 CM C T Missense p.P574L c.1721C>T 17 73235515 BRCA C T Missense p.R214H c.641G>A 17 73238523 UCEC C T Nonsense p.W417* c.1250G>A 17 73236436 OV C T Synonymous p.K130K c.390G>A 17 73239562 BRCA C T Synonymous p.Q563Q c.1689G>A 17 73235547 ESCA C T Synonymous p.R207R c.621G>A 17 73238543 LUAD G A Missense p.A282V c.845C>T 17 73237582 LUSC G A Missense p.A699V c.2096C>T 17 73234436 UCEC G A Missense p.L196F c.586C>T 17 73238935 CM G A Missense p.R163C c.487C>T 17 73239185 BRCA G A Missense p.R288W c.862C>T 17 73237565 BLCA G A Missense p.S351L c.1052C>T 17 73237033 HNSC G A Synonymous p.A491A c.1473C>T 17 73235980 HNSC G A Synonymous p.F714F c.2142C>T 17 73234390 CM G A Synonymous p.G709G c.2127C>T 17 73234405 SCLC G A Synonymous p.L540L c.1620C>T 17 73235616 BLCA G A Synonymous p.P498P c.1494C>T 17 73235959 STAD G A Synonymous p.P636P c.1908C>T 17 73235037 CM G T Missense p.D133E c.399C>A 17 73239553 BRCA G T Missense p.L49M c.145C>A 17 73242646 BLCA T A Nonsense p.K575* c.1723A>T 17 73235513 OV T C Missense p.E24G c.71A>G 17 73242847 NSCLC T C Synonymous p.E663E c.1989A>G 17 73234805 HC T - Frameshift p.N166Tfs*13 c.497delA 17 73239175 BLCA