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 14 73614734 73614734 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 g.chr14:73614734G>A c.7G>A c.(7-9)Gag>Aag p.E3K BLCA 14 73637508 73637508 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 g.chr14:73637508G>A c.91G>A c.(91-93)Gac>Aac p.D31N BLCA 14 73637515 73637515 + Missense_Mutation SNP G G C TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr14:73637515G>C c.98G>C c.(97-99)aGa>aCa p.R33T BLCA 14 73640330 73640330 + Nonsense_Mutation SNP C C G TCGA-G2-AA3D-01A-11D-A391-08 TCGA-G2-AA3D-10A-01D-A394-08 g.chr14:73640330C>G c.395C>G c.(394-396)tCa>tGa p.S132* BLCA 14 73659343 73659369 + Splice_Site DEL TTTTTTCAGGGAAGTGTTTAAAACCTA TTTTTTCAGGGAAGTGTTTAAAACCTA - TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 g.chr14:73659343_73659369delTTTTTTCAGGGAAGTGTTTAAAACCTA c.548_566delTTTTTTCAGGGAAGTGTTTAAAACCTA c.(547-567)gttttttcagggaagtgttta>ga p.VFSGKCL183del BLCA 14 73664744 73664744 + Missense_Mutation SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 g.chr14:73664744G>A c.775G>A c.(775-777)Gtg>Atg p.V259M BLCA 14 73673092 73673092 + Splice_Site SNP A A C TCGA-E7-A5KE-01A-11D-A289-08 TCGA-E7-A5KE-10A-01D-A289-08 g.chr14:73673092A>C c.e9-1 BLCA 14 73683862 73683862 + Missense_Mutation SNP C C A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 g.chr14:73683862C>A c.1158C>A c.(1156-1158)ttC>ttA p.F386L BRCA 14 73637554 73637554 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr14:73637554A>C c.137A>C c.(136-138)cAc>cCc p.H46P BRCA 14 73637628 73637628 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 g.chr14:73637628G>A c.211G>A c.(211-213)Gag>Aag p.E71K CESC 14 73637568 73637568 + Missense_Mutation SNP T T C TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 g.chr14:73637568T>C c.151T>C c.(151-153)Tct>Cct p.S51P CESC 14 73659433 73659433 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr14:73659433G>T c.630G>T c.(628-630)atG>atT p.M210I CESC 14 73678482 73678482 + Missense_Mutation SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 g.chr14:73678482G>A c.961G>A c.(961-963)Gaa>Aaa p.E321K CESC 14 73685914 73685914 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr14:73685914T>G c.1321T>G c.(1321-1323)Ttt>Gtt p.F441V COAD 14 73640342 73640342 + Missense_Mutation SNP C C T TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr14:73640342C>T c.407C>T c.(406-408)gCt>gTt p.A136V COAD 14 73659540 73659540 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr14:73659540C>T c.737C>T c.(736-738)gCg>gTg p.A246V COAD 14 73664774 73664774 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr14:73664774C>T c.805C>T c.(805-807)Cgt>Tgt p.R269C COADREAD 14 73637706 73637706 + Missense_Mutation SNP G G A TCGA-DY-A1DD-01A-21D-A152-10 TCGA-DY-A1DD-10A-01D-A152-10 g.chr14:73637706G>A c.289G>A c.(289-291)Gtg>Atg p.V97M COADREAD 14 73640342 73640342 + Missense_Mutation SNP C C T TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr14:73640342C>T c.407C>T c.(406-408)gCt>gTt p.A136V COADREAD 14 73659540 73659540 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr14:73659540C>T c.737C>T c.(736-738)gCg>gTg p.A246V COADREAD 14 73664774 73664774 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr14:73664774C>T c.805C>T c.(805-807)Cgt>Tgt p.R269C DLBC 14 73640277 73640277 + Silent SNP C C T TCGA-FA-A7Q1-01A-11D-A382-10 TCGA-FA-A7Q1-10A-01D-A385-10 g.chr14:73640277C>T c.342C>T c.(340-342)atC>atT p.I114I ESCA 14 73664779 73664779 + Missense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 g.chr14:73664779G>T c.810G>T c.(808-810)atG>atT p.M270I ESCA 14 73673101 73673101 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 g.chr14:73673101G>C c.876G>C c.(874-876)atG>atC p.M292I GBM 14 73678621 73678621 + Missense_Mutation SNP G G C TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 g.chr14:73678621G>C c.1100G>C c.(1099-1101)aGt>aCt p.S367T GBMLGG 14 73678621 73678621 + Missense_Mutation SNP G G C TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 g.chr14:73678621G>C c.1100G>C c.(1099-1101)aGt>aCt p.S367T KIPAN 14 73678584 73678584 + Missense_Mutation SNP C C G TCGA-IA-A83V-01A-11D-A34Z-10 TCGA-IA-A83V-11A-11D-A34Z-10 g.chr14:73678584C>G c.1063C>G c.(1063-1065)Cct>Gct p.P355A KIPAN 14 73685985 73685985 + Silent SNP A A G TCGA-B8-5163-01A-01D-1421-08 TCGA-B8-5163-10A-01D-1421-08 g.chr14:73685985A>G c.1392A>G c.(1390-1392)caA>caG p.Q464Q KIRC 14 73685985 73685985 + Silent SNP A A G TCGA-B8-5163-01A-01D-1421-08 TCGA-B8-5163-10A-01D-1421-08 g.chr14:73685985A>G c.1392A>G c.(1390-1392)caA>caG p.Q464Q KIRP 14 73678584 73678584 + Missense_Mutation SNP C C G TCGA-IA-A83V-01A-11D-A34Z-10 TCGA-IA-A83V-11A-11D-A34Z-10 g.chr14:73678584C>G c.1063C>G c.(1063-1065)Cct>Gct p.P355A LIHC 14 73637640 73637640 + Silent SNP T T C TCGA-YA-A8S7-01A-11D-A36X-10 TCGA-YA-A8S7-10A-01D-A370-10 g.chr14:73637640T>C c.223T>C c.(223-225)Ttg>Ctg p.L75L LIHC 14 73653618 73653618 + Missense_Mutation SNP A A G TCGA-MI-A75E-01A-11D-A32G-10 TCGA-MI-A75E-10A-01D-A32G-10 g.chr14:73653618A>G c.538A>G c.(538-540)Att>Gtt p.I180V LIHC 14 73678608 73678608 + Missense_Mutation SNP G G C TCGA-DD-AACJ-01A-11D-A40R-10 TCGA-DD-AACJ-10A-01D-A40U-10 g.chr14:73678608G>C c.1087G>C c.(1087-1089)Gaa>Caa p.E363Q LUAD 14 73637658 73637658 + Missense_Mutation SNP C C T TCGA-44-7660-01A-11D-2063-08 TCGA-44-7660-10A-01D-2063-08 g.chr14:73637658C>T c.241C>T c.(241-243)Cat>Tat p.H81Y LUAD 14 73640327 73640327 + Missense_Mutation SNP A A G TCGA-55-8619-01A-11D-2393-08 TCGA-55-8619-10A-01D-2393-08 g.chr14:73640327A>G c.392A>G c.(391-393)cAc>cGc p.H131R LUAD 14 73653563 73653563 + Silent SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 g.chr14:73653563C>T c.483C>T c.(481-483)gtC>gtT p.V161V LUAD 14 73659504 73659504 + Missense_Mutation SNP C C A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 g.chr14:73659504C>A c.701C>A c.(700-702)gCc>gAc p.A234D LUAD 14 73659570 73659570 + Missense_Mutation SNP A A G TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr14:73659570A>G c.767A>G c.(766-768)tAt>tGt p.Y256C LUAD 14 73664737 73664737 + Splice_Site SNP A A G TCGA-55-8507-01A-11D-2393-08 TCGA-55-8507-10A-01D-2393-08 g.chr14:73664737A>G c.e8-1 LUAD 14 73683908 73683908 + Frame_Shift_Del DEL G G - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chr14:73683908delG c.1204delG c.(1204-1206)ggafs p.G402fs LUSC 14 73653560 73653560 + Splice_Site SNP G G C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 g.chr14:73653560G>C c.e6-1 LUSC 14 73659524 73659524 + Missense_Mutation SNP C C T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 g.chr14:73659524C>T c.721C>T c.(721-723)Ctc>Ttc p.L241F LUSC 14 73659572 73659572 + Splice_Site SNP G G A TCGA-66-2754-01A-01D-0983-08 TCGA-66-2754-11A-01D-0983-08 g.chr14:73659572G>A c.769G>A c.(769-771)Gat>Aat p.D257N LUSC 14 73685865 73685865 + Silent SNP C C T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 g.chr14:73685865C>T c.1272C>T c.(1270-1272)ctC>ctT p.L424L PAAD 14 73673163 73673163 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr14:73673163C>T c.938C>T c.(937-939)tCc>tTc p.S313F READ 14 73637706 73637706 + Missense_Mutation SNP G G A TCGA-DY-A1DD-01A-21D-A152-10 TCGA-DY-A1DD-10A-01D-A152-10 g.chr14:73637706G>A c.289G>A c.(289-291)Gtg>Atg p.V97M SKCM 14 73637678 73637678 + Silent SNP C C T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 g.chr14:73637678C>T c.261C>T c.(259-261)gtC>gtT p.V87V SKCM 14 73640349 73640349 + Silent SNP C C T TCGA-D3-A3C8-06A-12D-A19A-08 TCGA-D3-A3C8-10A-01D-A19A-08 g.chr14:73640349C>T c.414C>T c.(412-414)atC>atT p.I138I SKCM 14 73640349 73640349 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 g.chr14:73640349C>T c.414C>T c.(412-414)atC>atT p.I138I SKCM 14 73640357 73640357 + Missense_Mutation SNP G G T TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr14:73640357G>T c.422G>T c.(421-423)aGt>aTt p.S141I SKCM 14 73653628 73653628 + Splice_Site SNP G G T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 g.chr14:73653628G>T c.548G>T c.(547-549)gGg>gTg p.G183V SKCM 14 73685906 73685906 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 g.chr14:73685906C>T c.1313C>T c.(1312-1314)tCc>tTc p.S438F

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 14 73614734 73614734 single base substitution G A exon_variant BLCA-US 14 73614734 73614734 single base substitution G A missense_variant E3K 7G>A BLCA-US 14 73637508 73637508 single base substitution G A 3_prime_UTR_variant BLCA-US 14 73637508 73637508 single base substitution G A 5_prime_UTR_variant BLCA-US 14 73637508 73637508 single base substitution G A exon_variant BLCA-US 14 73637508 73637508 single base substitution G A missense_variant D27N 79G>A BLCA-US 14 73637508 73637508 single base substitution G A missense_variant D31N 91G>A BLCA-US 14 73659343 73659369 deletion of <=200bp TTTTTTCAGGGAAGTGTTTAAAACCTA - splice_acceptor_variant BLCA-US 14 73664744 73664744 single base substitution G A exon_variant BLCA-US 14 73664744 73664744 single base substitution G A missense_variant V167M 499G>A BLCA-US 14 73664744 73664744 single base substitution G A missense_variant V255M 763G>A BLCA-US 14 73664744 73664744 single base substitution G A missense_variant V259M 775G>A BLCA-US 14 73683862 73683862 single base substitution C A 3_prime_UTR_variant BLCA-US 14 73683862 73683862 single base substitution C A exon_variant BLCA-US 14 73683862 73683862 single base substitution C A missense_variant F294L 882C>A BLCA-US 14 73683862 73683862 single base substitution C A missense_variant F328L 984C>A BLCA-US 14 73683862 73683862 single base substitution C A missense_variant F382L 1146C>A BLCA-US 14 73683862 73683862 single base substitution C A missense_variant F386L 1158C>A BRCA-EU 14 73600833 73600833 single base substitution T C upstream_gene_variant BRCA-EU 14 73605547 73605547 single base substitution C T intron_variant BRCA-EU 14 73606304 73606304 insertion of <=200bp - G intron_variant BRCA-EU 14 73606418 73606418 single base substitution C T intron_variant BRCA-EU 14 73607339 73607339 single base substitution C G intron_variant BRCA-EU 14 73608607 73608607 single base substitution C G intron_variant BRCA-EU 14 73614231 73614231 single base substitution G C 5_prime_UTR_variant BRCA-EU 14 73614231 73614231 single base substitution G C intron_variant BRCA-EU 14 73614231 73614231 single base substitution G C upstream_gene_variant BRCA-EU 14 73616429 73616429 single base substitution A G intron_variant BRCA-EU 14 73617308 73617308 insertion of <=200bp - A intron_variant BRCA-EU 14 73617612 73617612 deletion of <=200bp A - intron_variant BRCA-EU 14 73621915 73621915 insertion of <=200bp - TT intron_variant BRCA-EU 14 73624847 73624847 single base substitution G A intron_variant BRCA-EU 14 73625939 73625939 single base substitution G C intron_variant BRCA-EU 14 73626860 73626873 deletion of <=200bp TACATTATTTCTCT - downstream_gene_variant BRCA-EU 14 73626860 73626873 deletion of <=200bp TACATTATTTCTCT - intron_variant BRCA-EU 14 73627948 73627948 single base substitution G A downstream_gene_variant BRCA-EU 14 73627948 73627948 single base substitution G A intron_variant BRCA-EU 14 73629073 73629073 single base substitution G A downstream_gene_variant BRCA-EU 14 73629073 73629073 single base substitution G A intron_variant BRCA-EU 14 73635262 73635262 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 14 73635262 73635262 single base substitution G A intron_variant BRCA-EU 14 73635688 73635688 single base substitution C T 5_prime_UTR_variant BRCA-EU 14 73635688 73635688 single base substitution C T intron_variant BRCA-EU 14 73639192 73639192 single base substitution T C downstream_gene_variant BRCA-EU 14 73639192 73639192 single base substitution T C intron_variant BRCA-EU 14 73642133 73642133 single base substitution C T downstream_gene_variant BRCA-EU 14 73642133 73642133 single base substitution C T intron_variant BRCA-EU 14 73643248 73643248 single base substitution C T downstream_gene_variant BRCA-EU 14 73643248 73643248 single base substitution C T intron_variant BRCA-EU 14 73644241 73644241 single base substitution C G downstream_gene_variant BRCA-EU 14 73644241 73644241 single base substitution C G intron_variant BRCA-EU 14 73645417 73645417 single base substitution T A downstream_gene_variant BRCA-EU 14 73645417 73645417 single base substitution T A intron_variant BRCA-EU 14 73646468 73646468 single base substitution A G intron_variant BRCA-EU 14 73647168 73647168 single base substitution G A intron_variant BRCA-EU 14 73648233 73648233 single base substitution G C intron_variant BRCA-EU 14 73648672 73648672 single base substitution G T intron_variant BRCA-EU 14 73648743 73648743 single base substitution A G intron_variant BRCA-EU 14 73649385 73649385 single base substitution C T intron_variant BRCA-EU 14 73649918 73649918 single base substitution C G intron_variant BRCA-EU 14 73650817 73650817 single base substitution C T intron_variant BRCA-EU 14 73652840 73652840 single base substitution C A intron_variant BRCA-EU 14 73654312 73654312 single base substitution C G intron_variant BRCA-EU 14 73657046 73657046 single base substitution A G intron_variant BRCA-EU 14 73657983 73657983 single base substitution T A intron_variant BRCA-EU 14 73658828 73658828 single base substitution G A intron_variant BRCA-EU 14 73659050 73659050 single base substitution G T intron_variant BRCA-EU 14 73660245 73660245 single base substitution G A intron_variant BRCA-EU 14 73660245 73660245 single base substitution G A upstream_gene_variant BRCA-EU 14 73661478 73661478 single base substitution A G intron_variant BRCA-EU 14 73661478 73661478 single base substitution A G upstream_gene_variant BRCA-EU 14 73661891 73661891 insertion of <=200bp - T intron_variant BRCA-EU 14 73661891 73661891 insertion of <=200bp - T upstream_gene_variant BRCA-EU 14 73661904 73661904 single base substitution A T intron_variant BRCA-EU 14 73661904 73661904 single base substitution A T upstream_gene_variant BRCA-EU 14 73665020 73665020 single base substitution G C intron_variant BRCA-EU 14 73665533 73665533 single base substitution G A intron_variant BRCA-EU 14 73666479 73666479 single base substitution A C intron_variant BRCA-EU 14 73667074 73667074 single base substitution T A intron_variant BRCA-EU 14 73667378 73667378 single base substitution A G intron_variant BRCA-EU 14 73667405 73667405 single base substitution G C intron_variant BRCA-EU 14 73667420 73667420 deletion of <=200bp T - intron_variant BRCA-EU 14 73667471 73667471 single base substitution G T intron_variant BRCA-EU 14 73667597 73667597 single base substitution A G intron_variant BRCA-EU 14 73667836 73667836 single base substitution G A intron_variant BRCA-EU 14 73668536 73668536 single base substitution C A intron_variant BRCA-EU 14 73668536 73668536 single base substitution C A upstream_gene_variant BRCA-EU 14 73673858 73673858 insertion of <=200bp - AAT intron_variant BRCA-EU 14 73675016 73675016 single base substitution A G intron_variant BRCA-EU 14 73675749 73675749 single base substitution G T intron_variant BRCA-EU 14 73676106 73676106 single base substitution C G intron_variant BRCA-EU 14 73676669 73676669 single base substitution T A intron_variant BRCA-EU 14 73676765 73676765 single base substitution T A intron_variant BRCA-EU 14 73676940 73676940 deletion of <=200bp A - intron_variant BRCA-EU 14 73678523 73678523 single base substitution C T exon_variant BRCA-EU 14 73678523 73678523 single base substitution C T intron_variant BRCA-EU 14 73678523 73678523 single base substitution C T missense_variant A365V 1094C>T BRCA-EU 14 73678523 73678523 single base substitution C T synonymous_variant G242G 726C>T BRCA-EU 14 73678523 73678523 single base substitution C T synonymous_variant G330G 990C>T BRCA-EU 14 73678523 73678523 single base substitution C T synonymous_variant G334G 1002C>T BRCA-EU 14 73679346 73679346 single base substitution T C downstream_gene_variant BRCA-EU 14 73679346 73679346 single base substitution T C intron_variant BRCA-EU 14 73680120 73680120 single base substitution A T downstream_gene_variant BRCA-EU 14 73680120 73680120 single base substitution A T intron_variant BRCA-EU 14 73681375 73681375 single base substitution C G downstream_gene_variant BRCA-EU 14 73681375 73681375 single base substitution C G intron_variant BRCA-EU 14 73683044 73683044 single base substitution G T downstream_gene_variant BRCA-EU 14 73683044 73683044 single base substitution G T intron_variant BRCA-EU 14 73683653 73683653 single base substitution C G intron_variant BRCA-EU 14 73687431 73687431 single base substitution C A 3_prime_UTR_variant BRCA-EU 14 73687431 73687431 single base substitution C A downstream_gene_variant BRCA-EU 14 73688559 73688559 single base substitution G C 3_prime_UTR_variant BRCA-EU 14 73688559 73688559 single base substitution G C downstream_gene_variant BRCA-EU 14 73693912 73693912 single base substitution C T downstream_gene_variant BRCA-EU 14 73694391 73694391 single base substitution A C downstream_gene_variant BRCA-EU 14 73694595 73694595 single base substitution C G downstream_gene_variant BRCA-EU 14 73694660 73694660 single base substitution C A downstream_gene_variant BRCA-EU 14 73694931 73694931 single base substitution C T downstream_gene_variant BRCA-EU 14 73694991 73694991 single base substitution A C downstream_gene_variant BRCA-FR 14 73608607 73608607 single base substitution C G intron_variant BRCA-FR 14 73622479 73622479 single base substitution G A intron_variant BRCA-FR 14 73639860 73639860 single base substitution A T downstream_gene_variant BRCA-FR 14 73639860 73639860 single base substitution A T intron_variant BRCA-FR 14 73649385 73649385 single base substitution C T intron_variant BRCA-FR 14 73658828 73658828 single base substitution G A intron_variant BRCA-FR 14 73660245 73660245 single base substitution G A intron_variant BRCA-FR 14 73660245 73660245 single base substitution G A upstream_gene_variant BRCA-FR 14 73661904 73661904 single base substitution A T intron_variant BRCA-FR 14 73661904 73661904 single base substitution A T upstream_gene_variant BRCA-FR 14 73665020 73665020 single base substitution G C intron_variant BRCA-FR 14 73667471 73667471 single base substitution G T intron_variant BRCA-FR 14 73671404 73671404 single base substitution G C intron_variant BRCA-FR 14 73671404 73671404 single base substitution G C upstream_gene_variant BRCA-FR 14 73681765 73681765 single base substitution T G downstream_gene_variant BRCA-FR 14 73681765 73681765 single base substitution T G intron_variant BRCA-UK 14 73619353 73619353 single base substitution G A intron_variant BRCA-UK 14 73639023 73639023 single base substitution G A downstream_gene_variant BRCA-UK 14 73639023 73639023 single base substitution G A intron_variant BRCA-UK 14 73651093 73651093 single base substitution G A intron_variant BRCA-UK 14 73651095 73651095 single base substitution G A intron_variant BRCA-US 14 73614682 73614682 single base substitution A G 5_prime_UTR_variant BRCA-US 14 73614682 73614682 single base substitution A G exon_variant BRCA-US 14 73614682 73614682 single base substitution A G splice_region_variant BRCA-US 14 73614682 73614682 single base substitution A G upstream_gene_variant BRCA-US 14 73637554 73637554 single base substitution A C 3_prime_UTR_variant BRCA-US 14 73637554 73637554 single base substitution A C 5_prime_UTR_variant BRCA-US 14 73637554 73637554 single base substitution A C exon_variant BRCA-US 14 73637554 73637554 single base substitution A C missense_variant H42P 125A>C BRCA-US 14 73637554 73637554 single base substitution A C missense_variant H46P 137A>C BRCA-US 14 73637628 73637628 single base substitution G A 3_prime_UTR_variant BRCA-US 14 73637628 73637628 single base substitution G A 5_prime_UTR_variant BRCA-US 14 73637628 73637628 single base substitution G A downstream_gene_variant BRCA-US 14 73637628 73637628 single base substitution G A exon_variant BRCA-US 14 73637628 73637628 single base substitution G A missense_variant E67K 199G>A BRCA-US 14 73637628 73637628 single base substitution G A missense_variant E71K 211G>A BRCA-US 14 73664751 73664751 single base substitution T G exon_variant BRCA-US 14 73664751 73664751 single base substitution T G missense_variant V169G 506T>G BRCA-US 14 73664751 73664751 single base substitution T G missense_variant V257G 770T>G BRCA-US 14 73664751 73664751 single base substitution T G missense_variant V261G 782T>G BTCA-JP 14 73672947 73672947 deletion of <=200bp T - exon_variant BTCA-JP 14 73672947 73672947 deletion of <=200bp T - intron_variant BTCA-JP 14 73672947 73672948 deletion of <=200bp TT - exon_variant BTCA-JP 14 73672947 73672948 deletion of <=200bp TT - intron_variant BTCA-JP 14 73673000 73673000 single base substitution G A exon_variant BTCA-JP 14 73673000 73673000 single base substitution G A intron_variant BTCA-JP 14 73675528 73675528 single base substitution C G intron_variant BTCA-JP 14 73675528 73675528 single base substitution C G splice_region_variant CESC-US 14 73637568 73637568 single base substitution T C 3_prime_UTR_variant CESC-US 14 73637568 73637568 single base substitution T C 5_prime_UTR_variant CESC-US 14 73637568 73637568 single base substitution T C exon_variant CESC-US 14 73637568 73637568 single base substitution T C missense_variant S47P 139T>C CESC-US 14 73637568 73637568 single base substitution T C missense_variant S51P 151T>C CESC-US 14 73659433 73659433 single base substitution G T exon_variant CESC-US 14 73659433 73659433 single base substitution G T missense_variant M118I 354G>T CESC-US 14 73659433 73659433 single base substitution G T missense_variant M206I 618G>T CESC-US 14 73659433 73659433 single base substitution G T missense_variant M210I 630G>T CESC-US 14 73659433 73659433 single base substitution G T upstream_gene_variant CESC-US 14 73678482 73678482 single base substitution G A exon_variant CESC-US 14 73678482 73678482 single base substitution G A intron_variant CESC-US 14 73678482 73678482 single base substitution G A missense_variant E229K 685G>A CESC-US 14 73678482 73678482 single base substitution G A missense_variant E317K 949G>A CESC-US 14 73678482 73678482 single base substitution G A missense_variant E321K 961G>A CESC-US 14 73678482 73678482 single base substitution G A synonymous_variant Q351Q 1053G>A CESC-US 14 73685914 73685914 single base substitution T G 3_prime_UTR_variant CESC-US 14 73685914 73685914 single base substitution T G downstream_gene_variant CESC-US 14 73685914 73685914 single base substitution T G exon_variant CESC-US 14 73685914 73685914 single base substitution T G missense_variant F349V 1045T>G CESC-US 14 73685914 73685914 single base substitution T G missense_variant F383V 1147T>G CESC-US 14 73685914 73685914 single base substitution T G missense_variant F437V 1309T>G CESC-US 14 73685914 73685914 single base substitution T G missense_variant F441V 1321T>G CLLE-ES 14 73608367 73608367 single base substitution T C intron_variant CLLE-ES 14 73676727 73676727 single base substitution C T intron_variant CLLE-ES 14 73681686 73681686 single base substitution T A downstream_gene_variant CLLE-ES 14 73681686 73681686 single base substitution T A intron_variant COAD-US 14 73678523 73678523 single base substitution C T exon_variant COAD-US 14 73678523 73678523 single base substitution C T intron_variant COAD-US 14 73678523 73678523 single base substitution C T missense_variant A365V 1094C>T COAD-US 14 73678523 73678523 single base substitution C T synonymous_variant G242G 726C>T COAD-US 14 73678523 73678523 single base substitution C T synonymous_variant G330G 990C>T COAD-US 14 73678523 73678523 single base substitution C T synonymous_variant G334G 1002C>T COCA-CN 14 73651441 73651441 single base substitution T G intron_variant COCA-CN 14 73651449 73651449 single base substitution G T intron_variant COCA-CN 14 73659461 73659461 single base substitution C T exon_variant COCA-CN 14 73659461 73659461 single base substitution C T stop_gained R128* 382C>T COCA-CN 14 73659461 73659461 single base substitution C T stop_gained R216* 646C>T COCA-CN 14 73659461 73659461 single base substitution C T stop_gained R220* 658C>T COCA-CN 14 73659461 73659461 single base substitution C T upstream_gene_variant COCA-CN 14 73678436 73678436 single base substitution T G intron_variant EOPC-DE 14 73659959 73659959 single base substitution A G intron_variant EOPC-DE 14 73659959 73659959 single base substitution A G upstream_gene_variant EOPC-DE 14 73682159 73682159 single base substitution C T downstream_gene_variant EOPC-DE 14 73682159 73682159 single base substitution C T intron_variant EOPC-DE 14 73695182 73695182 single base substitution G A downstream_gene_variant ESAD-UK 14 73599778 73599778 single base substitution A C upstream_gene_variant ESAD-UK 14 73601301 73601301 single base substitution T A upstream_gene_variant ESAD-UK 14 73601482 73601482 single base substitution C A upstream_gene_variant ESAD-UK 14 73602179 73602179 single base substitution G T upstream_gene_variant ESAD-UK 14 73602245 73602245 insertion of <=200bp - G upstream_gene_variant ESAD-UK 14 73602486 73602486 single base substitution G A upstream_gene_variant ESAD-UK 14 73603808 73603808 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 14 73603808 73603808 single base substitution G T intron_variant ESAD-UK 14 73604949 73604949 single base substitution C A intron_variant ESAD-UK 14 73605994 73605994 single base substitution T A intron_variant ESAD-UK 14 73605997 73605997 single base substitution A T intron_variant ESAD-UK 14 73605997 73605997 single base substitution A T splice_region_variant ESAD-UK 14 73606085 73606085 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 14 73606085 73606085 single base substitution C T intron_variant ESAD-UK 14 73612159 73612159 single base substitution C T intron_variant ESAD-UK 14 73612159 73612159 single base substitution C T upstream_gene_variant ESAD-UK 14 73613570 73613572 deletion of <=200bp CTT - intron_variant ESAD-UK 14 73613570 73613572 deletion of <=200bp CTT - upstream_gene_variant ESAD-UK 14 73613827 73613827 single base substitution G A intron_variant ESAD-UK 14 73613827 73613827 single base substitution G A upstream_gene_variant ESAD-UK 14 73618129 73618129 insertion of <=200bp - TA intron_variant ESAD-UK 14 73625731 73625731 single base substitution T G intron_variant ESAD-UK 14 73625992 73625992 single base substitution G C intron_variant ESAD-UK 14 73626206 73626206 single base substitution G C intron_variant ESAD-UK 14 73627626 73627626 single base substitution G T downstream_gene_variant ESAD-UK 14 73627626 73627626 single base substitution G T intron_variant ESAD-UK 14 73629216 73629216 single base substitution G A downstream_gene_variant ESAD-UK 14 73629216 73629216 single base substitution G A intron_variant ESAD-UK 14 73632310 73632310 single base substitution G T intron_variant ESAD-UK 14 73632310 73632310 single base substitution G T upstream_gene_variant ESAD-UK 14 73632764 73632764 insertion of <=200bp - AAC intron_variant ESAD-UK 14 73632764 73632764 insertion of <=200bp - AAC upstream_gene_variant ESAD-UK 14 73633476 73633476 single base substitution C A intron_variant ESAD-UK 14 73633476 73633476 single base substitution C A upstream_gene_variant ESAD-UK 14 73639021 73639021 single base substitution C T downstream_gene_variant ESAD-UK 14 73639021 73639021 single base substitution C T intron_variant ESAD-UK 14 73640024 73640024 single base substitution G A downstream_gene_variant ESAD-UK 14 73640024 73640024 single base substitution G A intron_variant ESAD-UK 14 73640874 73640874 deletion of <=200bp A - 3_prime_UTR_variant ESAD-UK 14 73640874 73640874 deletion of <=200bp A - downstream_gene_variant ESAD-UK 14 73640874 73640874 deletion of <=200bp A - intron_variant ESAD-UK 14 73643278 73643278 single base substitution T A downstream_gene_variant ESAD-UK 14 73643278 73643278 single base substitution T A intron_variant ESAD-UK 14 73645178 73645178 single base substitution G A downstream_gene_variant ESAD-UK 14 73645178 73645178 single base substitution G A intron_variant ESAD-UK 14 73646326 73646326 insertion of <=200bp - A intron_variant ESAD-UK 14 73646704 73646704 single base substitution T A intron_variant ESAD-UK 14 73653606 73653606 insertion of <=200bp - T exon_variant ESAD-UK 14 73653606 73653606 insertion of <=200bp - T frameshift_variant F172F? ESAD-UK 14 73653606 73653606 insertion of <=200bp - T frameshift_variant F176F? ESAD-UK 14 73653606 73653606 insertion of <=200bp - T frameshift_variant F84F? ESAD-UK 14 73657848 73657848 single base substitution T G intron_variant ESAD-UK 14 73658434 73658434 single base substitution T G intron_variant ESAD-UK 14 73660806 73660806 single base substitution T G intron_variant ESAD-UK 14 73660806 73660806 single base substitution T G upstream_gene_variant ESAD-UK 14 73661142 73661142 single base substitution A T intron_variant ESAD-UK 14 73661142 73661142 single base substitution A T upstream_gene_variant ESAD-UK 14 73661796 73661796 single base substitution A G intron_variant ESAD-UK 14 73661796 73661796 single base substitution A G upstream_gene_variant ESAD-UK 14 73664744 73664744 single base substitution G C exon_variant ESAD-UK 14 73664744 73664744 single base substitution G C missense_variant V167L 499G>C ESAD-UK 14 73664744 73664744 single base substitution G C missense_variant V255L 763G>C ESAD-UK 14 73664744 73664744 single base substitution G C missense_variant V259L 775G>C ESAD-UK 14 73667498 73667498 single base substitution C A intron_variant ESAD-UK 14 73676464 73676464 single base substitution G C intron_variant ESAD-UK 14 73679187 73679187 single base substitution T A downstream_gene_variant ESAD-UK 14 73679187 73679187 single base substitution T A intron_variant ESAD-UK 14 73680058 73680058 single base substitution T C downstream_gene_variant ESAD-UK 14 73680058 73680058 single base substitution T C intron_variant ESAD-UK 14 73680351 73680351 single base substitution A G downstream_gene_variant ESAD-UK 14 73680351 73680351 single base substitution A G intron_variant ESAD-UK 14 73681097 73681097 single base substitution T C downstream_gene_variant ESAD-UK 14 73681097 73681097 single base substitution T C intron_variant ESAD-UK 14 73681983 73681983 single base substitution T A downstream_gene_variant ESAD-UK 14 73681983 73681983 single base substitution T A intron_variant ESAD-UK 14 73682262 73682262 single base substitution G T downstream_gene_variant ESAD-UK 14 73682262 73682262 single base substitution G T intron_variant ESAD-UK 14 73683771 73683771 single base substitution T C intron_variant ESAD-UK 14 73685573 73685573 single base substitution G A downstream_gene_variant ESAD-UK 14 73685573 73685573 single base substitution G A intron_variant ESAD-UK 14 73685629 73685629 single base substitution C A downstream_gene_variant ESAD-UK 14 73685629 73685629 single base substitution C A intron_variant ESAD-UK 14 73688487 73688487 single base substitution A C 3_prime_UTR_variant ESAD-UK 14 73688487 73688487 single base substitution A C downstream_gene_variant ESAD-UK 14 73690896 73690896 deletion of <=200bp T - downstream_gene_variant ESCA-CN 14 73683937 73683937 single base substitution C T 3_prime_UTR_variant ESCA-CN 14 73683937 73683937 single base substitution C T downstream_gene_variant ESCA-CN 14 73683937 73683937 single base substitution C T exon_variant ESCA-CN 14 73683937 73683937 single base substitution C T synonymous_variant F319F 957C>T ESCA-CN 14 73683937 73683937 single base substitution C T synonymous_variant F353F 1059C>T ESCA-CN 14 73683937 73683937 single base substitution C T synonymous_variant F407F 1221C>T ESCA-CN 14 73683937 73683937 single base substitution C T synonymous_variant F411F 1233C>T GBM-US 14 73678621 73678621 single base substitution G C 3_prime_UTR_variant GBM-US 14 73678621 73678621 single base substitution G C downstream_gene_variant GBM-US 14 73678621 73678621 single base substitution G C exon_variant GBM-US 14 73678621 73678621 single base substitution G C intron_variant GBM-US 14 73678621 73678621 single base substitution G C missense_variant S275T 824G>C GBM-US 14 73678621 73678621 single base substitution G C missense_variant S363T 1088G>C GBM-US 14 73678621 73678621 single base substitution G C missense_variant S367T 1100G>C KIRC-US 14 73685985 73685985 single base substitution A G 3_prime_UTR_variant KIRC-US 14 73685985 73685985 single base substitution A G downstream_gene_variant KIRC-US 14 73685985 73685985 single base substitution A G exon_variant KIRC-US 14 73685985 73685985 single base substitution A G synonymous_variant Q372Q 1116A>G KIRC-US 14 73685985 73685985 single base substitution A G synonymous_variant Q406Q 1218A>G KIRC-US 14 73685985 73685985 single base substitution A G synonymous_variant Q460Q 1380A>G KIRC-US 14 73685985 73685985 single base substitution A G synonymous_variant Q464Q 1392A>G LAML-KR 14 73605585 73605585 single base substitution G C intron_variant LAML-KR 14 73605623 73605623 single base substitution G C intron_variant LAML-KR 14 73650456 73650456 single base substitution T C intron_variant LAML-KR 14 73650461 73650461 single base substitution G T intron_variant LAML-KR 14 73650500 73650500 single base substitution C T intron_variant LAML-KR 14 73650999 73650999 single base substitution G T intron_variant LAML-KR 14 73651010 73651010 single base substitution T C intron_variant LAML-KR 14 73651517 73651517 single base substitution C T intron_variant LAML-KR 14 73651641 73651641 single base substitution G A intron_variant LAML-KR 14 73651656 73651656 single base substitution T C intron_variant LAML-KR 14 73664853 73664853 single base substitution G T intron_variant LAML-KR 14 73671255 73671255 single base substitution C A intron_variant LAML-KR 14 73671255 73671255 single base substitution C A upstream_gene_variant LICA-FR 14 73615224 73615224 single base substitution T A intron_variant LICA-FR 14 73615828 73615828 insertion of <=200bp - A intron_variant LICA-FR 14 73629594 73629594 single base substitution A G downstream_gene_variant LICA-FR 14 73629594 73629594 single base substitution A G intron_variant LICA-FR 14 73629594 73629594 single base substitution A G upstream_gene_variant LICA-FR 14 73695325 73695325 single base substitution G A downstream_gene_variant LIHC-US 14 73653618 73653618 single base substitution A G exon_variant LIHC-US 14 73653618 73653618 single base substitution A G missense_variant I176V 526A>G LIHC-US 14 73653618 73653618 single base substitution A G missense_variant I180V 538A>G LIHC-US 14 73653618 73653618 single base substitution A G missense_variant I88V 262A>G LINC-JP 14 73607902 73607902 single base substitution A G intron_variant LINC-JP 14 73608025 73608025 deletion of <=200bp A - intron_variant LINC-JP 14 73610901 73610901 single base substitution A G intron_variant LINC-JP 14 73610901 73610901 single base substitution A G upstream_gene_variant LINC-JP 14 73614862 73614862 single base substitution A G intron_variant LINC-JP 14 73616030 73616030 deletion of <=200bp T - intron_variant LINC-JP 14 73629623 73629623 single base substitution C A downstream_gene_variant LINC-JP 14 73629623 73629623 single base substitution C A intron_variant LINC-JP 14 73629623 73629623 single base substitution C A upstream_gene_variant LINC-JP 14 73643651 73643651 insertion of <=200bp - A downstream_gene_variant LINC-JP 14 73643651 73643651 insertion of <=200bp - A intron_variant LINC-JP 14 73645945 73645945 single base substitution C T intron_variant LINC-JP 14 73649174 73649174 single base substitution C T intron_variant LINC-JP 14 73653697 73653697 single base substitution A G intron_variant LINC-JP 14 73657901 73657901 single base substitution C T intron_variant LINC-JP 14 73667708 73667708 single base substitution A T intron_variant LINC-JP 14 73668112 73668112 single base substitution A G intron_variant LINC-JP 14 73668112 73668112 single base substitution A G upstream_gene_variant LINC-JP 14 73669873 73669873 single base substitution G T intron_variant LINC-JP 14 73669873 73669873 single base substitution G T upstream_gene_variant LINC-JP 14 73669874 73669874 single base substitution C T intron_variant LINC-JP 14 73669874 73669874 single base substitution C T upstream_gene_variant LINC-JP 14 73673147 73673147 single base substitution A G exon_variant LINC-JP 14 73673147 73673147 single base substitution A G missense_variant R216G 646A>G LINC-JP 14 73673147 73673147 single base substitution A G missense_variant R304G 910A>G LINC-JP 14 73673147 73673147 single base substitution A G missense_variant R308G 922A>G LINC-JP 14 73683810 73683810 single base substitution A G intron_variant LIRI-JP 14 73599767 73599767 single base substitution G A upstream_gene_variant LIRI-JP 14 73602138 73602138 single base substitution G C upstream_gene_variant LIRI-JP 14 73602888 73602888 single base substitution A G upstream_gene_variant LIRI-JP 14 73603028 73603028 single base substitution C T upstream_gene_variant LIRI-JP 14 73604316 73604316 single base substitution G C intron_variant LIRI-JP 14 73608548 73608548 single base substitution G A intron_variant LIRI-JP 14 73608549 73608549 single base substitution G T intron_variant LIRI-JP 14 73609077 73609077 single base substitution A C intron_variant LIRI-JP 14 73609280 73609280 single base substitution G A intron_variant LIRI-JP 14 73609280 73609280 single base substitution G A upstream_gene_variant LIRI-JP 14 73614162 73614162 single base substitution G T intron_variant LIRI-JP 14 73614162 73614162 single base substitution G T upstream_gene_variant LIRI-JP 14 73614636 73614636 single base substitution T G intron_variant LIRI-JP 14 73614636 73614636 single base substitution T G upstream_gene_variant LIRI-JP 14 73616330 73616330 single base substitution C T intron_variant LIRI-JP 14 73622137 73622137 single base substitution C G intron_variant LIRI-JP 14 73624242 73624242 single base substitution G T intron_variant LIRI-JP 14 73626050 73626050 single base substitution C G intron_variant LIRI-JP 14 73626259 73626259 single base substitution A G intron_variant LIRI-JP 14 73626466 73626466 single base substitution C T intron_variant LIRI-JP 14 73630004 73630004 single base substitution G A downstream_gene_variant LIRI-JP 14 73630004 73630004 single base substitution G A intron_variant LIRI-JP 14 73630004 73630004 single base substitution G A upstream_gene_variant LIRI-JP 14 73632708 73632708 single base substitution G T intron_variant LIRI-JP 14 73632708 73632708 single base substitution G T upstream_gene_variant LIRI-JP 14 73632750 73632750 single base substitution G A intron_variant LIRI-JP 14 73632750 73632750 single base substitution G A upstream_gene_variant LIRI-JP 14 73635661 73635661 single base substitution T G 5_prime_UTR_variant LIRI-JP 14 73635661 73635661 single base substitution T G intron_variant LIRI-JP 14 73639450 73639450 single base substitution T G downstream_gene_variant LIRI-JP 14 73639450 73639450 single base substitution T G intron_variant LIRI-JP 14 73643693 73643693 single base substitution C T downstream_gene_variant LIRI-JP 14 73643693 73643693 single base substitution C T intron_variant LIRI-JP 14 73647231 73647231 single base substitution T C intron_variant LIRI-JP 14 73648574 73648574 single base substitution T C intron_variant LIRI-JP 14 73652218 73652218 single base substitution A T intron_variant LIRI-JP 14 73653818 73653818 single base substitution T A intron_variant LIRI-JP 14 73656370 73656370 single base substitution G T intron_variant LIRI-JP 14 73657429 73657429 single base substitution A T intron_variant LIRI-JP 14 73657669 73657669 single base substitution A G intron_variant LIRI-JP 14 73659575 73659575 single base substitution A G splice_region_variant LIRI-JP 14 73659575 73659575 single base substitution A G upstream_gene_variant LIRI-JP 14 73661374 73661374 single base substitution T G intron_variant LIRI-JP 14 73661374 73661374 single base substitution T G upstream_gene_variant LIRI-JP 14 73662292 73662292 insertion of <=200bp - T intron_variant LIRI-JP 14 73662292 73662292 insertion of <=200bp - T upstream_gene_variant LIRI-JP 14 73662472 73662472 single base substitution A G intron_variant LIRI-JP 14 73662472 73662472 single base substitution A G upstream_gene_variant LIRI-JP 14 73662904 73662904 single base substitution A T intron_variant LIRI-JP 14 73662904 73662904 single base substitution A T upstream_gene_variant LIRI-JP 14 73663524 73663524 single base substitution A T intron_variant LIRI-JP 14 73663524 73663524 single base substitution A T upstream_gene_variant LIRI-JP 14 73664933 73664933 single base substitution T G intron_variant LIRI-JP 14 73665219 73665219 single base substitution C T intron_variant LIRI-JP 14 73667302 73667302 single base substitution C A intron_variant LIRI-JP 14 73667487 73667487 single base substitution G T intron_variant LIRI-JP 14 73668442 73668442 single base substitution T C intron_variant LIRI-JP 14 73668442 73668442 single base substitution T C upstream_gene_variant LIRI-JP 14 73668651 73668651 single base substitution C T intron_variant LIRI-JP 14 73668651 73668651 single base substitution C T upstream_gene_variant LIRI-JP 14 73668963 73668964 deletion of <=200bp GG - intron_variant LIRI-JP 14 73668963 73668964 deletion of <=200bp GG - upstream_gene_variant LIRI-JP 14 73671707 73671707 single base substitution C T intron_variant LIRI-JP 14 73671707 73671707 single base substitution C T upstream_gene_variant LIRI-JP 14 73674048 73674048 single base substitution G T intron_variant LIRI-JP 14 73676336 73676336 single base substitution A C intron_variant LIRI-JP 14 73676895 73676895 single base substitution T G intron_variant LIRI-JP 14 73681266 73681266 single base substitution C T downstream_gene_variant LIRI-JP 14 73681266 73681266 single base substitution C T intron_variant LIRI-JP 14 73682609 73682609 single base substitution A C downstream_gene_variant LIRI-JP 14 73682609 73682609 single base substitution A C intron_variant LIRI-JP 14 73683213 73683213 single base substitution A T downstream_gene_variant LIRI-JP 14 73683213 73683213 single base substitution A T intron_variant LIRI-JP 14 73684707 73684707 single base substitution G A downstream_gene_variant LIRI-JP 14 73684707 73684707 single base substitution G A intron_variant LIRI-JP 14 73684893 73684893 single base substitution C T downstream_gene_variant LIRI-JP 14 73684893 73684893 single base substitution C T intron_variant LIRI-JP 14 73687189 73687189 insertion of <=200bp - TGA 3_prime_UTR_variant LIRI-JP 14 73687189 73687189 insertion of <=200bp - TGA downstream_gene_variant LIRI-JP 14 73691402 73691402 single base substitution C T downstream_gene_variant LIRI-JP 14 73692647 73692647 single base substitution C G downstream_gene_variant LIRI-JP 14 73693329 73693329 insertion of <=200bp - T downstream_gene_variant LUSC-KR 14 73600577 73600577 single base substitution C T upstream_gene_variant LUSC-KR 14 73600862 73600862 single base substitution G A upstream_gene_variant LUSC-KR 14 73601580 73601580 single base substitution C A upstream_gene_variant LUSC-KR 14 73604637 73604637 single base substitution G T intron_variant LUSC-KR 14 73619230 73619230 single base substitution G T intron_variant LUSC-KR 14 73625905 73625905 single base substitution A T intron_variant LUSC-KR 14 73634326 73634326 single base substitution C A intron_variant LUSC-KR 14 73634326 73634326 single base substitution C A upstream_gene_variant LUSC-KR 14 73634782 73634782 single base substitution G T 5_prime_UTR_variant LUSC-KR 14 73634782 73634782 single base substitution G T intron_variant LUSC-KR 14 73635923 73635923 single base substitution T A 5_prime_UTR_variant LUSC-KR 14 73635923 73635923 single base substitution T A intron_variant LUSC-KR 14 73639724 73639724 single base substitution G A downstream_gene_variant LUSC-KR 14 73639724 73639724 single base substitution G A intron_variant LUSC-KR 14 73641659 73641659 single base substitution C T downstream_gene_variant LUSC-KR 14 73641659 73641659 single base substitution C T intron_variant LUSC-KR 14 73641951 73641951 single base substitution C G downstream_gene_variant LUSC-KR 14 73641951 73641951 single base substitution C G intron_variant LUSC-KR 14 73650382 73650382 single base substitution T C intron_variant LUSC-KR 14 73650456 73650456 single base substitution T C intron_variant LUSC-KR 14 73650460 73650460 single base substitution C T intron_variant LUSC-KR 14 73650483 73650483 single base substitution C T intron_variant LUSC-KR 14 73650500 73650500 single base substitution C T intron_variant LUSC-KR 14 73650516 73650516 single base substitution T C intron_variant LUSC-KR 14 73650610 73650610 single base substitution G A intron_variant LUSC-KR 14 73650634 73650634 single base substitution G A intron_variant LUSC-KR 14 73650645 73650645 single base substitution C A intron_variant LUSC-KR 14 73650901 73650901 single base substitution G T intron_variant LUSC-KR 14 73650985 73650985 single base substitution C T intron_variant LUSC-KR 14 73651018 73651018 single base substitution C G intron_variant LUSC-KR 14 73651031 73651031 single base substitution G A intron_variant LUSC-KR 14 73651375 73651375 single base substitution G A intron_variant LUSC-KR 14 73651441 73651441 single base substitution T G intron_variant LUSC-KR 14 73651517 73651517 single base substitution C G intron_variant LUSC-KR 14 73651759 73651759 single base substitution A G intron_variant LUSC-KR 14 73652988 73652988 single base substitution G A intron_variant LUSC-KR 14 73658471 73658471 single base substitution G A intron_variant LUSC-KR 14 73659002 73659002 single base substitution A T intron_variant LUSC-KR 14 73659807 73659807 single base substitution C T intron_variant LUSC-KR 14 73659807 73659807 single base substitution C T upstream_gene_variant LUSC-KR 14 73660471 73660471 single base substitution C T intron_variant LUSC-KR 14 73660471 73660471 single base substitution C T upstream_gene_variant LUSC-KR 14 73663659 73663659 single base substitution G T intron_variant LUSC-KR 14 73663659 73663659 single base substitution G T upstream_gene_variant LUSC-KR 14 73668046 73668046 single base substitution G A intron_variant LUSC-KR 14 73668046 73668046 single base substitution G A upstream_gene_variant LUSC-KR 14 73668482 73668482 single base substitution T G intron_variant LUSC-KR 14 73668482 73668482 single base substitution T G upstream_gene_variant LUSC-KR 14 73675254 73675254 single base substitution C T intron_variant LUSC-KR 14 73688861 73688861 single base substitution A C 3_prime_UTR_variant LUSC-KR 14 73688861 73688861 single base substitution A C downstream_gene_variant LUSC-KR 14 73689166 73689166 single base substitution C A 3_prime_UTR_variant LUSC-KR 14 73689166 73689166 single base substitution C A downstream_gene_variant LUSC-US 14 73653560 73653560 single base substitution G C splice_acceptor_variant LUSC-US 14 73659524 73659524 single base substitution C T exon_variant LUSC-US 14 73659524 73659524 single base substitution C T missense_variant L149F 445C>T LUSC-US 14 73659524 73659524 single base substitution C T missense_variant L237F 709C>T LUSC-US 14 73659524 73659524 single base substitution C T missense_variant L241F 721C>T LUSC-US 14 73659524 73659524 single base substitution C T upstream_gene_variant LUSC-US 14 73659572 73659572 single base substitution G A missense_variant D165N 493G>A LUSC-US 14 73659572 73659572 single base substitution G A missense_variant D253N 757G>A LUSC-US 14 73659572 73659572 single base substitution G A missense_variant D257N 769G>A LUSC-US 14 73659572 73659572 single base substitution G A splice_region_variant LUSC-US 14 73659572 73659572 single base substitution G A upstream_gene_variant LUSC-US 14 73685865 73685865 single base substitution C T 3_prime_UTR_variant LUSC-US 14 73685865 73685865 single base substitution C T downstream_gene_variant LUSC-US 14 73685865 73685865 single base substitution C T exon_variant LUSC-US 14 73685865 73685865 single base substitution C T synonymous_variant L332L 996C>T LUSC-US 14 73685865 73685865 single base substitution C T synonymous_variant L366L 1098C>T LUSC-US 14 73685865 73685865 single base substitution C T synonymous_variant L420L 1260C>T LUSC-US 14 73685865 73685865 single base substitution C T synonymous_variant L424L 1272C>T MALY-DE 14 73609297 73609297 single base substitution G T intron_variant MALY-DE 14 73609297 73609297 single base substitution G T upstream_gene_variant MALY-DE 14 73611063 73611063 single base substitution A T intron_variant MALY-DE 14 73611063 73611063 single base substitution A T upstream_gene_variant MALY-DE 14 73612449 73612449 single base substitution T C intron_variant MALY-DE 14 73612449 73612449 single base substitution T C upstream_gene_variant MALY-DE 14 73614187 73614189 deletion of <=200bp ATA - intron_variant MALY-DE 14 73614187 73614189 deletion of <=200bp ATA - upstream_gene_variant MALY-DE 14 73624457 73624457 single base substitution A T intron_variant MALY-DE 14 73629182 73629183 deletion of <=200bp GA - downstream_gene_variant MALY-DE 14 73629182 73629183 deletion of <=200bp GA - intron_variant MALY-DE 14 73633565 73633568 deletion of <=200bp TGTT - intron_variant MALY-DE 14 73633565 73633568 deletion of <=200bp TGTT - upstream_gene_variant MALY-DE 14 73635791 73635791 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MALY-DE 14 73635791 73635791 single base substitution C T intron_variant MALY-DE 14 73638252 73638252 single base substitution C T downstream_gene_variant MALY-DE 14 73638252 73638252 single base substitution C T intron_variant MALY-DE 14 73648304 73648304 deletion of <=200bp A - intron_variant MALY-DE 14 73662961 73662961 single base substitution T A intron_variant MALY-DE 14 73662961 73662961 single base substitution T A upstream_gene_variant MALY-DE 14 73666773 73666773 single base substitution G A intron_variant MALY-DE 14 73675316 73675316 single base substitution C T intron_variant MALY-DE 14 73678004 73678004 single base substitution A T intron_variant MALY-DE 14 73683113 73683113 single base substitution A G downstream_gene_variant MALY-DE 14 73683113 73683113 single base substitution A G intron_variant MALY-DE 14 73684721 73684721 single base substitution C G downstream_gene_variant MALY-DE 14 73684721 73684721 single base substitution C G intron_variant MALY-DE 14 73684937 73684937 single base substitution T C downstream_gene_variant MALY-DE 14 73684937 73684937 single base substitution T C intron_variant MALY-DE 14 73690800 73690800 single base substitution A G downstream_gene_variant MELA-AU 14 73598984 73598985 multiple base substitution (>=2bp and <=200bp) CC TA upstream_gene_variant MELA-AU 14 73599415 73599415 single base substitution C T upstream_gene_variant MELA-AU 14 73599751 73599751 single base substitution A G upstream_gene_variant MELA-AU 14 73599992 73599992 single base substitution C T upstream_gene_variant MELA-AU 14 73600066 73600066 single base substitution A G upstream_gene_variant MELA-AU 14 73600070 73600070 single base substitution C T upstream_gene_variant MELA-AU 14 73600509 73600509 single base substitution G A upstream_gene_variant MELA-AU 14 73600615 73600615 single base substitution G A upstream_gene_variant MELA-AU 14 73601173 73601173 single base substitution T G upstream_gene_variant MELA-AU 14 73601265 73601265 single base substitution C T upstream_gene_variant MELA-AU 14 73603085 73603086 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 14 73603089 73603089 single base substitution C T upstream_gene_variant MELA-AU 14 73603092 73603092 single base substitution C T upstream_gene_variant MELA-AU 14 73603093 73603093 single base substitution C T upstream_gene_variant MELA-AU 14 73603110 73603110 single base substitution C T upstream_gene_variant MELA-AU 14 73603110 73603111 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 14 73603696 73603696 single base substitution C T 5_prime_UTR_variant MELA-AU 14 73603696 73603696 single base substitution C T intron_variant MELA-AU 14 73603976 73603976 single base substitution A C intron_variant MELA-AU 14 73604075 73604075 single base substitution C T intron_variant MELA-AU 14 73604147 73604147 single base substitution C T intron_variant MELA-AU 14 73604540 73604540 single base substitution C T intron_variant MELA-AU 14 73604557 73604557 single base substitution C T intron_variant MELA-AU 14 73605281 73605281 single base substitution G A intron_variant MELA-AU 14 73605945 73605945 single base substitution C T intron_variant MELA-AU 14 73606816 73606816 single base substitution A T intron_variant MELA-AU 14 73606883 73606883 single base substitution C T intron_variant MELA-AU 14 73607009 73607009 single base substitution C T intron_variant MELA-AU 14 73607241 73607241 single base substitution A G intron_variant MELA-AU 14 73607262 73607262 single base substitution C T intron_variant MELA-AU 14 73608157 73608157 single base substitution G A intron_variant MELA-AU 14 73608194 73608194 single base substitution A T intron_variant MELA-AU 14 73608367 73608367 single base substitution T C intron_variant MELA-AU 14 73608600 73608600 single base substitution C T intron_variant MELA-AU 14 73609542 73609542 single base substitution C T intron_variant MELA-AU 14 73609542 73609542 single base substitution C T upstream_gene_variant MELA-AU 14 73609990 73609990 single base substitution G A intron_variant MELA-AU 14 73609990 73609990 single base substitution G A upstream_gene_variant MELA-AU 14 73611454 73611454 single base substitution T C intron_variant MELA-AU 14 73611454 73611454 single base substitution T C upstream_gene_variant MELA-AU 14 73612602 73612602 single base substitution G A intron_variant MELA-AU 14 73612602 73612602 single base substitution G A upstream_gene_variant MELA-AU 14 73612755 73612755 single base substitution C T intron_variant MELA-AU 14 73612755 73612755 single base substitution C T upstream_gene_variant MELA-AU 14 73613784 73613784 single base substitution C T intron_variant MELA-AU 14 73613784 73613784 single base substitution C T upstream_gene_variant MELA-AU 14 73614102 73614102 single base substitution C T intron_variant MELA-AU 14 73614102 73614102 single base substitution C T upstream_gene_variant MELA-AU 14 73614201 73614201 single base substitution G A 5_prime_UTR_variant MELA-AU 14 73614201 73614201 single base substitution G A intron_variant MELA-AU 14 73614201 73614201 single base substitution G A upstream_gene_variant MELA-AU 14 73614350 73614350 single base substitution C T 5_prime_UTR_variant MELA-AU 14 73614350 73614350 single base substitution C T intron_variant MELA-AU 14 73614350 73614350 single base substitution C T upstream_gene_variant MELA-AU 14 73615709 73615709 deletion of <=200bp T - intron_variant MELA-AU 14 73615812 73615812 single base substitution G A intron_variant MELA-AU 14 73617147 73617147 single base substitution C T intron_variant MELA-AU 14 73617357 73617357 single base substitution C T intron_variant MELA-AU 14 73617822 73617822 single base substitution G A intron_variant MELA-AU 14 73618313 73618313 single base substitution G A intron_variant MELA-AU 14 73618711 73618711 single base substitution C T intron_variant MELA-AU 14 73618801 73618801 single base substitution C T intron_variant MELA-AU 14 73618865 73618865 single base substitution C T intron_variant MELA-AU 14 73619486 73619486 single base substitution C T intron_variant MELA-AU 14 73620130 73620130 single base substitution T G intron_variant MELA-AU 14 73620259 73620259 single base substitution C T intron_variant MELA-AU 14 73620618 73620618 single base substitution C T intron_variant MELA-AU 14 73621762 73621762 single base substitution C T intron_variant MELA-AU 14 73622430 73622430 single base substitution T C intron_variant MELA-AU 14 73622691 73622691 single base substitution G A intron_variant MELA-AU 14 73623249 73623249 single base substitution G A intron_variant MELA-AU 14 73625620 73625620 single base substitution G A intron_variant MELA-AU 14 73626059 73626059 single base substitution C T intron_variant MELA-AU 14 73626474 73626474 single base substitution C T intron_variant MELA-AU 14 73627193 73627193 single base substitution C T downstream_gene_variant MELA-AU 14 73627193 73627193 single base substitution C T intron_variant MELA-AU 14 73627300 73627300 single base substitution C T downstream_gene_variant MELA-AU 14 73627300 73627300 single base substitution C T intron_variant MELA-AU 14 73627767 73627767 single base substitution C T downstream_gene_variant MELA-AU 14 73627767 73627767 single base substitution C T intron_variant MELA-AU 14 73628737 73628737 single base substitution C T downstream_gene_variant MELA-AU 14 73628737 73628737 single base substitution C T intron_variant MELA-AU 14 73628871 73628871 single base substitution G A downstream_gene_variant MELA-AU 14 73628871 73628871 single base substitution G A intron_variant MELA-AU 14 73629103 73629103 single base substitution C T downstream_gene_variant MELA-AU 14 73629103 73629103 single base substitution C T intron_variant MELA-AU 14 73629173 73629173 single base substitution C T downstream_gene_variant MELA-AU 14 73629173 73629173 single base substitution C T intron_variant MELA-AU 14 73629918 73629918 single base substitution C T downstream_gene_variant MELA-AU 14 73629918 73629918 single base substitution C T intron_variant MELA-AU 14 73629918 73629918 single base substitution C T upstream_gene_variant MELA-AU 14 73630354 73630354 single base substitution C T downstream_gene_variant MELA-AU 14 73630354 73630354 single base substitution C T intron_variant MELA-AU 14 73630354 73630354 single base substitution C T upstream_gene_variant MELA-AU 14 73630884 73630884 single base substitution C T downstream_gene_variant MELA-AU 14 73630884 73630884 single base substitution C T intron_variant MELA-AU 14 73630884 73630884 single base substitution C T upstream_gene_variant MELA-AU 14 73632410 73632410 single base substitution C T intron_variant MELA-AU 14 73632410 73632410 single base substitution C T upstream_gene_variant MELA-AU 14 73632589 73632589 single base substitution C T intron_variant MELA-AU 14 73632589 73632589 single base substitution C T upstream_gene_variant MELA-AU 14 73632622 73632622 single base substitution G A intron_variant MELA-AU 14 73632622 73632622 single base substitution G A upstream_gene_variant MELA-AU 14 73636223 73636223 single base substitution C T intron_variant MELA-AU 14 73636283 73636283 single base substitution T C intron_variant MELA-AU 14 73637480 73637480 single base substitution G A intron_variant MELA-AU 14 73637992 73637992 single base substitution T C downstream_gene_variant MELA-AU 14 73637992 73637992 single base substitution T C intron_variant MELA-AU 14 73638124 73638124 single base substitution T C downstream_gene_variant MELA-AU 14 73638124 73638124 single base substitution T C intron_variant MELA-AU 14 73639021 73639021 single base substitution C T downstream_gene_variant MELA-AU 14 73639021 73639021 single base substitution C T intron_variant MELA-AU 14 73639268 73639268 single base substitution C T downstream_gene_variant MELA-AU 14 73639268 73639268 single base substitution C T intron_variant MELA-AU 14 73639564 73639564 single base substitution C T downstream_gene_variant MELA-AU 14 73639564 73639564 single base substitution C T intron_variant MELA-AU 14 73640266 73640266 single base substitution T A downstream_gene_variant MELA-AU 14 73640266 73640266 single base substitution T A intron_variant MELA-AU 14 73640266 73640266 single base substitution T A splice_region_variant MELA-AU 14 73640844 73640844 single base substitution C T 3_prime_UTR_variant MELA-AU 14 73640844 73640844 single base substitution C T downstream_gene_variant MELA-AU 14 73640844 73640844 single base substitution C T intron_variant MELA-AU 14 73641191 73641191 single base substitution C T downstream_gene_variant MELA-AU 14 73641191 73641191 single base substitution C T intron_variant MELA-AU 14 73641505 73641505 single base substitution C T downstream_gene_variant MELA-AU 14 73641505 73641505 single base substitution C T intron_variant MELA-AU 14 73643183 73643183 single base substitution C T downstream_gene_variant MELA-AU 14 73643183 73643183 single base substitution C T intron_variant MELA-AU 14 73643192 73643192 single base substitution C T downstream_gene_variant MELA-AU 14 73643192 73643192 single base substitution C T intron_variant MELA-AU 14 73643324 73643324 single base substitution C T downstream_gene_variant MELA-AU 14 73643324 73643324 single base substitution C T intron_variant MELA-AU 14 73643455 73643455 single base substitution C T downstream_gene_variant MELA-AU 14 73643455 73643455 single base substitution C T intron_variant MELA-AU 14 73643985 73643986 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 14 73643985 73643986 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 73645094 73645094 single base substitution C T downstream_gene_variant MELA-AU 14 73645094 73645094 single base substitution C T intron_variant MELA-AU 14 73645799 73645799 single base substitution G C downstream_gene_variant MELA-AU 14 73645799 73645799 single base substitution G C intron_variant MELA-AU 14 73645907 73645907 single base substitution C T downstream_gene_variant MELA-AU 14 73645907 73645907 single base substitution C T intron_variant MELA-AU 14 73646158 73646158 single base substitution C T intron_variant MELA-AU 14 73646353 73646353 single base substitution T C intron_variant MELA-AU 14 73646519 73646519 single base substitution C T intron_variant MELA-AU 14 73646998 73646998 single base substitution C T intron_variant MELA-AU 14 73647138 73647138 single base substitution C A intron_variant MELA-AU 14 73647246 73647246 single base substitution C T intron_variant MELA-AU 14 73647975 73647975 single base substitution C T intron_variant MELA-AU 14 73648369 73648369 single base substitution A G intron_variant MELA-AU 14 73648553 73648553 single base substitution C T intron_variant MELA-AU 14 73650830 73650830 single base substitution C T intron_variant MELA-AU 14 73651417 73651418 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 73651626 73651626 single base substitution C T intron_variant MELA-AU 14 73652760 73652760 single base substitution C T intron_variant MELA-AU 14 73653260 73653260 single base substitution G A intron_variant MELA-AU 14 73653503 73653503 single base substitution C T intron_variant MELA-AU 14 73654590 73654590 single base substitution T C intron_variant MELA-AU 14 73654870 73654870 single base substitution C T intron_variant MELA-AU 14 73655506 73655506 single base substitution G T intron_variant MELA-AU 14 73655587 73655587 single base substitution C T intron_variant MELA-AU 14 73656035 73656035 single base substitution C T intron_variant MELA-AU 14 73656314 73656315 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 73657310 73657311 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 73657635 73657635 single base substitution C T intron_variant MELA-AU 14 73657971 73657971 single base substitution C T intron_variant MELA-AU 14 73658677 73658677 single base substitution C T intron_variant MELA-AU 14 73659412 73659412 single base substitution G A exon_variant MELA-AU 14 73659412 73659412 single base substitution G A stop_gained W111* 333G>A MELA-AU 14 73659412 73659412 single base substitution G A stop_gained W199* 597G>A MELA-AU 14 73659412 73659412 single base substitution G A stop_gained W203* 609G>A MELA-AU 14 73661175 73661175 single base substitution C T intron_variant MELA-AU 14 73661175 73661175 single base substitution C T upstream_gene_variant MELA-AU 14 73661715 73661715 single base substitution C T intron_variant MELA-AU 14 73661715 73661715 single base substitution C T upstream_gene_variant MELA-AU 14 73661971 73661971 single base substitution C T intron_variant MELA-AU 14 73661971 73661971 single base substitution C T upstream_gene_variant MELA-AU 14 73662107 73662107 single base substitution C T intron_variant MELA-AU 14 73662107 73662107 single base substitution C T upstream_gene_variant MELA-AU 14 73663733 73663733 single base substitution C T intron_variant MELA-AU 14 73663733 73663733 single base substitution C T upstream_gene_variant MELA-AU 14 73664655 73664655 single base substitution C T exon_variant MELA-AU 14 73664655 73664655 single base substitution C T intron_variant MELA-AU 14 73664794 73664794 single base substitution T C exon_variant MELA-AU 14 73664794 73664794 single base substitution T C synonymous_variant A183A 549T>C MELA-AU 14 73664794 73664794 single base substitution T C synonymous_variant A271A 813T>C MELA-AU 14 73664794 73664794 single base substitution T C synonymous_variant A275A 825T>C MELA-AU 14 73664886 73664886 single base substitution C T intron_variant MELA-AU 14 73664974 73664974 single base substitution C T intron_variant MELA-AU 14 73665079 73665079 single base substitution C T intron_variant MELA-AU 14 73665129 73665130 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 73665606 73665606 single base substitution C T intron_variant MELA-AU 14 73666696 73666696 single base substitution C T intron_variant MELA-AU 14 73666870 73666870 single base substitution C T intron_variant MELA-AU 14 73667081 73667081 single base substitution A G intron_variant MELA-AU 14 73668497 73668497 single base substitution C T intron_variant MELA-AU 14 73668497 73668497 single base substitution C T upstream_gene_variant MELA-AU 14 73668843 73668843 single base substitution C T intron_variant MELA-AU 14 73668843 73668843 single base substitution C T upstream_gene_variant MELA-AU 14 73668901 73668901 single base substitution C G intron_variant MELA-AU 14 73668901 73668901 single base substitution C G upstream_gene_variant MELA-AU 14 73669244 73669244 single base substitution G A intron_variant MELA-AU 14 73669244 73669244 single base substitution G A upstream_gene_variant MELA-AU 14 73669754 73669754 single base substitution G A intron_variant MELA-AU 14 73669754 73669754 single base substitution G A upstream_gene_variant MELA-AU 14 73670499 73670499 single base substitution C T intron_variant MELA-AU 14 73670499 73670499 single base substitution C T upstream_gene_variant MELA-AU 14 73670659 73670659 single base substitution C T intron_variant MELA-AU 14 73670659 73670659 single base substitution C T upstream_gene_variant MELA-AU 14 73670830 73670830 single base substitution C T intron_variant MELA-AU 14 73670830 73670830 single base substitution C T upstream_gene_variant MELA-AU 14 73671713 73671713 single base substitution G A intron_variant MELA-AU 14 73671713 73671713 single base substitution G A upstream_gene_variant MELA-AU 14 73671765 73671765 single base substitution C T intron_variant MELA-AU 14 73671765 73671765 single base substitution C T upstream_gene_variant MELA-AU 14 73672398 73672398 single base substitution C T intron_variant MELA-AU 14 73672398 73672398 single base substitution C T upstream_gene_variant MELA-AU 14 73672410 73672410 single base substitution G A intron_variant MELA-AU 14 73672410 73672410 single base substitution G A upstream_gene_variant MELA-AU 14 73673258 73673258 single base substitution C T intron_variant MELA-AU 14 73673438 73673438 single base substitution G A intron_variant MELA-AU 14 73675087 73675087 single base substitution C G intron_variant MELA-AU 14 73675230 73675230 single base substitution C T intron_variant MELA-AU 14 73675370 73675370 single base substitution G A intron_variant MELA-AU 14 73675390 73675390 single base substitution C T intron_variant MELA-AU 14 73675483 73675483 single base substitution C T intron_variant MELA-AU 14 73675654 73675654 single base substitution C T intron_variant MELA-AU 14 73675774 73675774 single base substitution C T intron_variant MELA-AU 14 73676200 73676200 single base substitution C T intron_variant MELA-AU 14 73676727 73676727 single base substitution C T intron_variant MELA-AU 14 73676747 73676747 single base substitution C T intron_variant MELA-AU 14 73678268 73678268 single base substitution G A intron_variant MELA-AU 14 73679108 73679108 single base substitution T C downstream_gene_variant MELA-AU 14 73679108 73679108 single base substitution T C intron_variant MELA-AU 14 73679118 73679118 single base substitution C T downstream_gene_variant MELA-AU 14 73679118 73679118 single base substitution C T intron_variant MELA-AU 14 73679409 73679409 single base substitution G A downstream_gene_variant MELA-AU 14 73679409 73679409 single base substitution G A intron_variant MELA-AU 14 73680190 73680191 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 14 73680190 73680191 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 73681064 73681064 single base substitution C T downstream_gene_variant MELA-AU 14 73681064 73681064 single base substitution C T intron_variant MELA-AU 14 73681684 73681684 single base substitution A T downstream_gene_variant MELA-AU 14 73681684 73681684 single base substitution A T intron_variant MELA-AU 14 73681697 73681697 single base substitution A T downstream_gene_variant MELA-AU 14 73681697 73681697 single base substitution A T intron_variant MELA-AU 14 73681984 73681984 single base substitution A T downstream_gene_variant MELA-AU 14 73681984 73681984 single base substitution A T intron_variant MELA-AU 14 73682649 73682649 single base substitution C T downstream_gene_variant MELA-AU 14 73682649 73682649 single base substitution C T intron_variant MELA-AU 14 73682650 73682650 single base substitution C T downstream_gene_variant MELA-AU 14 73682650 73682650 single base substitution C T intron_variant MELA-AU 14 73683287 73683287 single base substitution T C downstream_gene_variant MELA-AU 14 73683287 73683287 single base substitution T C intron_variant MELA-AU 14 73683421 73683421 single base substitution C T downstream_gene_variant MELA-AU 14 73683421 73683421 single base substitution C T intron_variant MELA-AU 14 73684210 73684210 single base substitution C T downstream_gene_variant MELA-AU 14 73684210 73684210 single base substitution C T intron_variant MELA-AU 14 73685349 73685349 single base substitution C T downstream_gene_variant MELA-AU 14 73685349 73685349 single base substitution C T intron_variant MELA-AU 14 73685692 73685692 single base substitution C T downstream_gene_variant MELA-AU 14 73685692 73685692 single base substitution C T intron_variant MELA-AU 14 73685728 73685728 single base substitution C T downstream_gene_variant MELA-AU 14 73685728 73685728 single base substitution C T intron_variant MELA-AU 14 73685913 73685913 single base substitution C T 3_prime_UTR_variant MELA-AU 14 73685913 73685913 single base substitution C T downstream_gene_variant MELA-AU 14 73685913 73685913 single base substitution C T exon_variant MELA-AU 14 73685913 73685913 single base substitution C T synonymous_variant T348T 1044C>T MELA-AU 14 73685913 73685913 single base substitution C T synonymous_variant T382T 1146C>T MELA-AU 14 73685913 73685913 single base substitution C T synonymous_variant T436T 1308C>T MELA-AU 14 73685913 73685913 single base substitution C T synonymous_variant T440T 1320C>T MELA-AU 14 73686086 73686086 single base substitution C T 3_prime_UTR_variant MELA-AU 14 73686086 73686086 single base substitution C T downstream_gene_variant MELA-AU 14 73686086 73686086 single base substitution C T exon_variant MELA-AU 14 73686207 73686207 single base substitution C T 3_prime_UTR_variant MELA-AU 14 73686207 73686207 single base substitution C T downstream_gene_variant MELA-AU 14 73686331 73686331 single base substitution C T 3_prime_UTR_variant MELA-AU 14 73686331 73686331 single base substitution C T downstream_gene_variant MELA-AU 14 73686571 73686571 single base substitution C T 3_prime_UTR_variant MELA-AU 14 73686571 73686571 single base substitution C T downstream_gene_variant MELA-AU 14 73686600 73686600 single base substitution C T 3_prime_UTR_variant MELA-AU 14 73686600 73686600 single base substitution C T downstream_gene_variant MELA-AU 14 73686910 73686911 multiple base substitution (>=2bp and <=200bp) AG GA 3_prime_UTR_variant MELA-AU 14 73686910 73686911 multiple base substitution (>=2bp and <=200bp) AG GA downstream_gene_variant MELA-AU 14 73686939 73686939 single base substitution C T 3_prime_UTR_variant MELA-AU 14 73686939 73686939 single base substitution C T downstream_gene_variant MELA-AU 14 73686960 73686960 single base substitution C T 3_prime_UTR_variant MELA-AU 14 73686960 73686960 single base substitution C T downstream_gene_variant MELA-AU 14 73687623 73687623 single base substitution C T 3_prime_UTR_variant MELA-AU 14 73687623 73687623 single base substitution C T downstream_gene_variant MELA-AU 14 73687803 73687803 single base substitution C T 3_prime_UTR_variant MELA-AU 14 73687803 73687803 single base substitution C T downstream_gene_variant MELA-AU 14 73688471 73688471 single base substitution G A 3_prime_UTR_variant MELA-AU 14 73688471 73688471 single base substitution G A downstream_gene_variant MELA-AU 14 73688805 73688805 single base substitution A C 3_prime_UTR_variant MELA-AU 14 73688805 73688805 single base substitution A C downstream_gene_variant MELA-AU 14 73690528 73690528 single base substitution C T downstream_gene_variant MELA-AU 14 73690681 73690681 single base substitution C T downstream_gene_variant MELA-AU 14 73690812 73690812 single base substitution A G downstream_gene_variant MELA-AU 14 73690982 73690982 single base substitution C T downstream_gene_variant MELA-AU 14 73691029 73691029 single base substitution C T downstream_gene_variant MELA-AU 14 73691265 73691265 single base substitution G A downstream_gene_variant MELA-AU 14 73691645 73691645 single base substitution C T downstream_gene_variant MELA-AU 14 73692106 73692106 single base substitution C T downstream_gene_variant MELA-AU 14 73692818 73692818 single base substitution C T downstream_gene_variant MELA-AU 14 73692974 73692974 single base substitution C T downstream_gene_variant MELA-AU 14 73692998 73692998 single base substitution C T downstream_gene_variant MELA-AU 14 73693478 73693478 single base substitution C T downstream_gene_variant MELA-AU 14 73693553 73693553 single base substitution C T downstream_gene_variant MELA-AU 14 73693894 73693894 single base substitution C T downstream_gene_variant MELA-AU 14 73694251 73694251 single base substitution C T downstream_gene_variant MELA-AU 14 73694869 73694869 single base substitution C T downstream_gene_variant MELA-AU 14 73695037 73695037 single base substitution G A downstream_gene_variant ORCA-IN 14 73608840 73608840 single base substitution T G intron_variant ORCA-IN 14 73609976 73609976 single base substitution G A intron_variant ORCA-IN 14 73609976 73609976 single base substitution G A upstream_gene_variant ORCA-IN 14 73657722 73657722 single base substitution C T intron_variant ORCA-IN 14 73682907 73682907 single base substitution A G downstream_gene_variant ORCA-IN 14 73682907 73682907 single base substitution A G intron_variant ORCA-IN 14 73693841 73693841 single base substitution G A downstream_gene_variant OV-AU 14 73599302 73599302 single base substitution G C upstream_gene_variant OV-AU 14 73609513 73609513 single base substitution A G intron_variant OV-AU 14 73609513 73609513 single base substitution A G upstream_gene_variant OV-AU 14 73613840 73613840 single base substitution C T intron_variant OV-AU 14 73613840 73613840 single base substitution C T upstream_gene_variant OV-AU 14 73636488 73636488 single base substitution G C intron_variant OV-AU 14 73638190 73638190 single base substitution C T downstream_gene_variant OV-AU 14 73638190 73638190 single base substitution C T intron_variant OV-AU 14 73639175 73639175 single base substitution A C downstream_gene_variant OV-AU 14 73639175 73639175 single base substitution A C intron_variant OV-AU 14 73658785 73658785 single base substitution G C intron_variant OV-AU 14 73662803 73662803 single base substitution T C intron_variant OV-AU 14 73662803 73662803 single base substitution T C upstream_gene_variant OV-AU 14 73686452 73686452 single base substitution C T 3_prime_UTR_variant OV-AU 14 73686452 73686452 single base substitution C T downstream_gene_variant PACA-AU 14 73603188 73603188 single base substitution C T 5_prime_UTR_variant PACA-AU 14 73603188 73603188 single base substitution C T exon_variant PACA-AU 14 73603188 73603188 single base substitution C T intron_variant PACA-AU 14 73603188 73603188 single base substitution C T upstream_gene_variant PACA-AU 14 73605764 73605764 single base substitution G A intron_variant PACA-AU 14 73609505 73609505 single base substitution T A intron_variant PACA-AU 14 73609505 73609505 single base substitution T A upstream_gene_variant PACA-AU 14 73609794 73609795 deletion of <=200bp TT - intron_variant PACA-AU 14 73609794 73609795 deletion of <=200bp TT - upstream_gene_variant PACA-AU 14 73611652 73611652 single base substitution G A intron_variant PACA-AU 14 73611652 73611652 single base substitution G A upstream_gene_variant PACA-AU 14 73620555 73620555 single base substitution G A intron_variant PACA-AU 14 73629533 73629533 single base substitution G T downstream_gene_variant PACA-AU 14 73629533 73629533 single base substitution G T intron_variant PACA-AU 14 73633099 73633099 single base substitution G A intron_variant PACA-AU 14 73633099 73633099 single base substitution G A upstream_gene_variant PACA-AU 14 73638091 73638091 single base substitution G A downstream_gene_variant PACA-AU 14 73638091 73638091 single base substitution G A intron_variant PACA-AU 14 73638296 73638296 single base substitution C T downstream_gene_variant PACA-AU 14 73638296 73638296 single base substitution C T intron_variant PACA-AU 14 73641995 73641995 single base substitution C T downstream_gene_variant PACA-AU 14 73641995 73641995 single base substitution C T intron_variant PACA-AU 14 73650819 73650819 single base substitution C T intron_variant PACA-AU 14 73653890 73653890 single base substitution C T intron_variant PACA-AU 14 73654196 73654196 single base substitution G T intron_variant PACA-AU 14 73660762 73660762 single base substitution G A intron_variant PACA-AU 14 73660762 73660762 single base substitution G A upstream_gene_variant PACA-AU 14 73661143 73661143 single base substitution T A intron_variant PACA-AU 14 73661143 73661143 single base substitution T A upstream_gene_variant PACA-AU 14 73676270 73676270 single base substitution A T intron_variant PACA-AU 14 73677613 73677619 deletion of <=200bp GTTTTTT - intron_variant PACA-AU 14 73678781 73678781 single base substitution A G downstream_gene_variant PACA-AU 14 73678781 73678781 single base substitution A G intron_variant PACA-AU 14 73683065 73683065 single base substitution G T downstream_gene_variant PACA-AU 14 73683065 73683065 single base substitution G T intron_variant PACA-AU 14 73684785 73684785 single base substitution C T downstream_gene_variant PACA-AU 14 73684785 73684785 single base substitution C T intron_variant PACA-AU 14 73685841 73685841 single base substitution G A downstream_gene_variant PACA-AU 14 73685841 73685841 single base substitution G A splice_acceptor_variant PACA-AU 14 73691967 73691967 single base substitution G A downstream_gene_variant PACA-CA 14 73602230 73602230 single base substitution C T upstream_gene_variant PACA-CA 14 73612482 73612482 single base substitution C T intron_variant PACA-CA 14 73612482 73612482 single base substitution C T upstream_gene_variant PACA-CA 14 73619450 73619450 single base substitution A G intron_variant PACA-CA 14 73620523 73620523 single base substitution C T intron_variant PACA-CA 14 73621181 73621181 single base substitution C T intron_variant PACA-CA 14 73629303 73629303 single base substitution G A downstream_gene_variant PACA-CA 14 73629303 73629303 single base substitution G A intron_variant PACA-CA 14 73634707 73634707 deletion of <=200bp T - 5_prime_UTR_variant PACA-CA 14 73634707 73634707 deletion of <=200bp T - intron_variant PACA-CA 14 73636542 73636542 single base substitution C T intron_variant PACA-CA 14 73636543 73636543 single base substitution G A intron_variant PACA-CA 14 73637711 73637711 single base substitution T C 3_prime_UTR_variant PACA-CA 14 73637711 73637711 single base substitution T C downstream_gene_variant PACA-CA 14 73637711 73637711 single base substitution T C exon_variant PACA-CA 14 73637711 73637711 single base substitution T C synonymous_variant A6A 18T>C PACA-CA 14 73637711 73637711 single base substitution T C synonymous_variant A94A 282T>C PACA-CA 14 73637711 73637711 single base substitution T C synonymous_variant A98A 294T>C PACA-CA 14 73647873 73647873 single base substitution C T intron_variant PACA-CA 14 73658106 73658106 insertion of <=200bp - GT intron_variant PACA-CA 14 73659540 73659540 single base substitution C T exon_variant PACA-CA 14 73659540 73659540 single base substitution C T missense_variant A154V 461C>T PACA-CA 14 73659540 73659540 single base substitution C T missense_variant A242V 725C>T PACA-CA 14 73659540 73659540 single base substitution C T missense_variant A246V 737C>T PACA-CA 14 73659540 73659540 single base substitution C T upstream_gene_variant PACA-CA 14 73661704 73661704 single base substitution A T intron_variant PACA-CA 14 73661704 73661704 single base substitution A T upstream_gene_variant PACA-CA 14 73665889 73665889 single base substitution G A intron_variant PACA-CA 14 73668464 73668464 insertion of <=200bp - T intron_variant PACA-CA 14 73668464 73668464 insertion of <=200bp - T upstream_gene_variant PACA-CA 14 73668996 73668996 single base substitution G A intron_variant PACA-CA 14 73668996 73668996 single base substitution G A upstream_gene_variant PACA-CA 14 73669998 73669998 single base substitution G A intron_variant PACA-CA 14 73669998 73669998 single base substitution G A upstream_gene_variant PACA-CA 14 73671980 73671980 single base substitution C G intron_variant PACA-CA 14 73671980 73671980 single base substitution C G upstream_gene_variant PACA-CA 14 73678733 73678733 single base substitution G T downstream_gene_variant PACA-CA 14 73678733 73678733 single base substitution G T intron_variant PACA-CA 14 73690327 73690327 single base substitution G A 3_prime_UTR_variant PACA-CA 14 73690327 73690327 single base substitution G A downstream_gene_variant PACA-CA 14 73693714 73693714 single base substitution G A downstream_gene_variant PAEN-AU 14 73623678 73623678 single base substitution A T intron_variant PAEN-IT 14 73676904 73676904 single base substitution A G intron_variant PBCA-DE 14 73629156 73629157 deletion of <=200bp CT - downstream_gene_variant PBCA-DE 14 73629156 73629157 deletion of <=200bp CT - intron_variant PBCA-DE 14 73658251 73658251 insertion of <=200bp - T intron_variant PBCA-DE 14 73658817 73658817 insertion of <=200bp - A intron_variant PBCA-DE 14 73659978 73659978 single base substitution A G intron_variant PBCA-DE 14 73659978 73659978 single base substitution A G upstream_gene_variant PBCA-DE 14 73661134 73661134 single base substitution A T intron_variant PBCA-DE 14 73661134 73661134 single base substitution A T upstream_gene_variant PBCA-DE 14 73680081 73680081 single base substitution G A downstream_gene_variant PBCA-DE 14 73680081 73680081 single base substitution G A intron_variant PBCA-DE 14 73689101 73689101 single base substitution G A 3_prime_UTR_variant PBCA-DE 14 73689101 73689101 single base substitution G A downstream_gene_variant PBCA-DE 14 73694413 73694413 single base substitution C T downstream_gene_variant PBCA-DE 14 73694907 73694907 single base substitution C T downstream_gene_variant PRAD-CA 14 73635644 73635644 single base substitution C T 5_prime_UTR_variant PRAD-CA 14 73635644 73635644 single base substitution C T intron_variant PRAD-CA 14 73641015 73641015 single base substitution C T downstream_gene_variant PRAD-CA 14 73641015 73641015 single base substitution C T intron_variant PRAD-CA 14 73651125 73651125 single base substitution G A intron_variant PRAD-CA 14 73678997 73678997 single base substitution T G downstream_gene_variant PRAD-CA 14 73678997 73678997 single base substitution T G intron_variant PRAD-UK 14 73599453 73599453 deletion of <=200bp T - upstream_gene_variant PRAD-UK 14 73608155 73608155 single base substitution T C intron_variant PRAD-UK 14 73621493 73621493 single base substitution G C intron_variant PRAD-UK 14 73645759 73645759 single base substitution A T downstream_gene_variant PRAD-UK 14 73645759 73645759 single base substitution A T intron_variant PRAD-UK 14 73652278 73652302 deletion of <=200bp GAGAGGGAGACCGTGGAAAGAGAGG - intron_variant PRAD-UK 14 73658983 73658983 insertion of <=200bp - A intron_variant PRAD-UK 14 73658991 73658991 insertion of <=200bp - A intron_variant PRAD-UK 14 73664811 73664811 single base substitution C T exon_variant PRAD-UK 14 73664811 73664811 single base substitution C T missense_variant T189M 566C>T PRAD-UK 14 73664811 73664811 single base substitution C T missense_variant T277M 830C>T PRAD-UK 14 73664811 73664811 single base substitution C T missense_variant T281M 842C>T PRAD-UK 14 73667668 73667668 single base substitution A G intron_variant PRAD-UK 14 73669382 73669382 single base substitution G A intron_variant PRAD-UK 14 73669382 73669382 single base substitution G A upstream_gene_variant PRAD-UK 14 73680044 73680044 single base substitution A T downstream_gene_variant PRAD-UK 14 73680044 73680044 single base substitution A T intron_variant PRAD-UK 14 73683592 73683592 single base substitution T C intron_variant READ-US 14 73637706 73637706 single base substitution G A 3_prime_UTR_variant READ-US 14 73637706 73637706 single base substitution G A downstream_gene_variant READ-US 14 73637706 73637706 single base substitution G A exon_variant READ-US 14 73637706 73637706 single base substitution G A missense_variant V5M 13G>A READ-US 14 73637706 73637706 single base substitution G A missense_variant V93M 277G>A READ-US 14 73637706 73637706 single base substitution G A missense_variant V97M 289G>A READ-US 14 73637706 73637706 single base substitution G A synonymous_variant ?93 READ-US 14 73673134 73673134 single base substitution G A exon_variant READ-US 14 73673134 73673134 single base substitution G A synonymous_variant P211P 633G>A READ-US 14 73673134 73673134 single base substitution G A synonymous_variant P299P 897G>A READ-US 14 73673134 73673134 single base substitution G A synonymous_variant P303P 909G>A RECA-EU 14 73621358 73621358 single base substitution A C intron_variant RECA-EU 14 73621362 73621362 single base substitution A T intron_variant RECA-EU 14 73621363 73621363 single base substitution C A intron_variant RECA-EU 14 73639826 73639826 single base substitution T G downstream_gene_variant RECA-EU 14 73639826 73639826 single base substitution T G intron_variant RECA-EU 14 73645107 73645107 single base substitution G A downstream_gene_variant RECA-EU 14 73645107 73645107 single base substitution G A intron_variant RECA-EU 14 73645108 73645108 single base substitution C T downstream_gene_variant RECA-EU 14 73645108 73645108 single base substitution C T intron_variant RECA-EU 14 73659874 73659874 single base substitution C T intron_variant RECA-EU 14 73659874 73659874 single base substitution C T upstream_gene_variant RECA-EU 14 73667359 73667359 single base substitution T C intron_variant RECA-EU 14 73679868 73679868 single base substitution G A downstream_gene_variant RECA-EU 14 73679868 73679868 single base substitution G A intron_variant RECA-EU 14 73688147 73688147 single base substitution G C 3_prime_UTR_variant RECA-EU 14 73688147 73688147 single base substitution G C downstream_gene_variant RECA-EU 14 73688915 73688915 single base substitution T C 3_prime_UTR_variant RECA-EU 14 73688915 73688915 single base substitution T C downstream_gene_variant SKCA-BR 14 73599689 73599689 single base substitution C T upstream_gene_variant SKCA-BR 14 73600574 73600574 single base substitution T G upstream_gene_variant SKCA-BR 14 73600718 73600718 single base substitution T G upstream_gene_variant SKCA-BR 14 73601265 73601265 single base substitution C T upstream_gene_variant SKCA-BR 14 73604899 73604903 deletion of <=200bp ATTAT - intron_variant SKCA-BR 14 73605016 73605016 single base substitution T C intron_variant SKCA-BR 14 73605124 73605124 single base substitution T C intron_variant SKCA-BR 14 73605341 73605341 single base substitution C A intron_variant SKCA-BR 14 73606173 73606173 single base substitution C T intron_variant SKCA-BR 14 73607160 73607160 single base substitution A C intron_variant SKCA-BR 14 73609630 73609630 single base substitution G A intron_variant SKCA-BR 14 73609630 73609630 single base substitution G A upstream_gene_variant SKCA-BR 14 73610737 73610737 single base substitution G A intron_variant SKCA-BR 14 73610737 73610737 single base substitution G A upstream_gene_variant SKCA-BR 14 73612876 73612876 single base substitution T A intron_variant SKCA-BR 14 73612876 73612876 single base substitution T A upstream_gene_variant SKCA-BR 14 73617141 73617141 single base substitution A T intron_variant SKCA-BR 14 73618586 73618586 insertion of <=200bp - TTATA intron_variant SKCA-BR 14 73618586 73618586 insertion of <=200bp - TTATATA intron_variant SKCA-BR 14 73623063 73623063 single base substitution C A intron_variant SKCA-BR 14 73623747 73623747 single base substitution C T intron_variant SKCA-BR 14 73624990 73624990 insertion of <=200bp - TTCTA intron_variant SKCA-BR 14 73624990 73624990 insertion of <=200bp - TTCTATCTA intron_variant SKCA-BR 14 73627511 73627511 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 14 73627511 73627511 insertion of <=200bp - CT intron_variant SKCA-BR 14 73627677 73627677 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 14 73627677 73627677 insertion of <=200bp - CT intron_variant SKCA-BR 14 73629748 73629748 single base substitution C T downstream_gene_variant SKCA-BR 14 73629748 73629748 single base substitution C T intron_variant SKCA-BR 14 73629748 73629748 single base substitution C T upstream_gene_variant SKCA-BR 14 73638069 73638069 single base substitution C A downstream_gene_variant SKCA-BR 14 73638069 73638069 single base substitution C A intron_variant SKCA-BR 14 73646881 73646881 single base substitution T G intron_variant SKCA-BR 14 73647821 73647821 single base substitution C T intron_variant SKCA-BR 14 73649870 73649870 single base substitution G A intron_variant SKCA-BR 14 73649906 73649906 single base substitution A C intron_variant SKCA-BR 14 73650873 73650873 single base substitution A C intron_variant SKCA-BR 14 73650953 73650953 single base substitution C T intron_variant SKCA-BR 14 73651239 73651239 single base substitution C T intron_variant SKCA-BR 14 73651364 73651364 single base substitution A C intron_variant SKCA-BR 14 73651879 73651879 single base substitution A G intron_variant SKCA-BR 14 73654928 73654928 single base substitution A C intron_variant SKCA-BR 14 73655644 73655644 single base substitution A C intron_variant SKCA-BR 14 73657194 73657194 single base substitution A T intron_variant SKCA-BR 14 73660292 73660292 single base substitution A G intron_variant SKCA-BR 14 73660292 73660292 single base substitution A G upstream_gene_variant SKCA-BR 14 73664751 73664751 single base substitution T G exon_variant SKCA-BR 14 73664751 73664751 single base substitution T G missense_variant V169G 506T>G SKCA-BR 14 73664751 73664751 single base substitution T G missense_variant V257G 770T>G SKCA-BR 14 73664751 73664751 single base substitution T G missense_variant V261G 782T>G SKCA-BR 14 73669154 73669174 deletion of <=200bp ATATATATATATATATATTTT - intron_variant SKCA-BR 14 73669154 73669174 deletion of <=200bp ATATATATATATATATATTTT - upstream_gene_variant SKCA-BR 14 73669163 73669170 deletion of <=200bp TATATATA - intron_variant SKCA-BR 14 73669163 73669170 deletion of <=200bp TATATATA - upstream_gene_variant SKCA-BR 14 73669206 73669206 single base substitution A C intron_variant SKCA-BR 14 73669206 73669206 single base substitution A C upstream_gene_variant SKCA-BR 14 73671236 73671237 deletion of <=200bp TA - intron_variant SKCA-BR 14 73671236 73671237 deletion of <=200bp TA - upstream_gene_variant SKCA-BR 14 73671681 73671681 single base substitution C T intron_variant SKCA-BR 14 73671681 73671681 single base substitution C T upstream_gene_variant SKCA-BR 14 73680286 73680286 single base substitution G A downstream_gene_variant SKCA-BR 14 73680286 73680286 single base substitution G A intron_variant SKCA-BR 14 73684014 73684014 single base substitution C T downstream_gene_variant SKCA-BR 14 73684014 73684014 single base substitution C T intron_variant SKCA-BR 14 73685692 73685692 single base substitution C T downstream_gene_variant SKCA-BR 14 73685692 73685692 single base substitution C T intron_variant SKCA-BR 14 73687952 73687952 single base substitution C T 3_prime_UTR_variant SKCA-BR 14 73687952 73687952 single base substitution C T downstream_gene_variant SKCA-BR 14 73688150 73688150 single base substitution G A 3_prime_UTR_variant SKCA-BR 14 73688150 73688150 single base substitution G A downstream_gene_variant SKCA-BR 14 73688610 73688610 single base substitution C A 3_prime_UTR_variant SKCA-BR 14 73688610 73688610 single base substitution C A downstream_gene_variant SKCM-US 14 73637678 73637678 single base substitution C T 3_prime_UTR_variant SKCM-US 14 73637678 73637678 single base substitution C T 5_prime_UTR_variant SKCM-US 14 73637678 73637678 single base substitution C T downstream_gene_variant SKCM-US 14 73637678 73637678 single base substitution C T exon_variant SKCM-US 14 73637678 73637678 single base substitution C T synonymous_variant V83V 249C>T SKCM-US 14 73637678 73637678 single base substitution C T synonymous_variant V87V 261C>T SKCM-US 14 73640349 73640349 single base substitution C T 3_prime_UTR_variant SKCM-US 14 73640349 73640349 single base substitution C T downstream_gene_variant SKCM-US 14 73640349 73640349 single base substitution C T exon_variant SKCM-US 14 73640349 73640349 single base substitution C T synonymous_variant I134I 402C>T SKCM-US 14 73640349 73640349 single base substitution C T synonymous_variant I138I 414C>T SKCM-US 14 73640349 73640349 single base substitution C T synonymous_variant I46I 138C>T SKCM-US 14 73685906 73685906 single base substitution C T 3_prime_UTR_variant SKCM-US 14 73685906 73685906 single base substitution C T downstream_gene_variant SKCM-US 14 73685906 73685906 single base substitution C T exon_variant SKCM-US 14 73685906 73685906 single base substitution C T missense_variant S346F 1037C>T SKCM-US 14 73685906 73685906 single base substitution C T missense_variant S380F 1139C>T SKCM-US 14 73685906 73685906 single base substitution C T missense_variant S434F 1301C>T SKCM-US 14 73685906 73685906 single base substitution C T missense_variant S438F 1313C>T STAD-US 14 73637541 73637541 single base substitution C T 3_prime_UTR_variant STAD-US 14 73637541 73637541 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant STAD-US 14 73637541 73637541 single base substitution C T exon_variant STAD-US 14 73637541 73637541 single base substitution C T missense_variant R38W 112C>T STAD-US 14 73637541 73637541 single base substitution C T missense_variant R42W 124C>T STAD-US 14 73637650 73637650 single base substitution G A 3_prime_UTR_variant STAD-US 14 73637650 73637650 single base substitution G A 5_prime_UTR_variant STAD-US 14 73637650 73637650 single base substitution G A downstream_gene_variant STAD-US 14 73637650 73637650 single base substitution G A exon_variant STAD-US 14 73637650 73637650 single base substitution G A missense_variant G74D 221G>A STAD-US 14 73637650 73637650 single base substitution G A missense_variant G78D 233G>A STAD-US 14 73685857 73685857 single base substitution T G 3_prime_UTR_variant STAD-US 14 73685857 73685857 single base substitution T G downstream_gene_variant STAD-US 14 73685857 73685857 single base substitution T G exon_variant STAD-US 14 73685857 73685857 single base substitution T G missense_variant L330V 988T>G STAD-US 14 73685857 73685857 single base substitution T G missense_variant L364V 1090T>G STAD-US 14 73685857 73685857 single base substitution T G missense_variant L418V 1252T>G STAD-US 14 73685857 73685857 single base substitution T G missense_variant L422V 1264T>G THCA-SA 14 73686944 73686944 single base substitution G A 3_prime_UTR_variant THCA-SA 14 73686944 73686944 single base substitution G A downstream_gene_variant UCEC-US 14 73653578 73653578 single base substitution T G exon_variant UCEC-US 14 73653578 73653578 single base substitution T G synonymous_variant L162L 486T>G UCEC-US 14 73653578 73653578 single base substitution T G synonymous_variant L166L 498T>G UCEC-US 14 73653578 73653578 single base substitution T G synonymous_variant L74L 222T>G UCEC-US 14 73653605 73653605 single base substitution C A exon_variant UCEC-US 14 73653605 73653605 single base substitution C A missense_variant F171L 513C>A UCEC-US 14 73653605 73653605 single base substitution C A missense_variant F175L 525C>A UCEC-US 14 73653605 73653605 single base substitution C A missense_variant F83L 249C>A UCEC-US 14 73659449 73659449 single base substitution A G exon_variant UCEC-US 14 73659449 73659449 single base substitution A G missense_variant K124E 370A>G UCEC-US 14 73659449 73659449 single base substitution A G missense_variant K212E 634A>G UCEC-US 14 73659449 73659449 single base substitution A G missense_variant K216E 646A>G UCEC-US 14 73659449 73659449 single base substitution A G upstream_gene_variant UCEC-US 14 73659520 73659520 single base substitution G A exon_variant UCEC-US 14 73659520 73659520 single base substitution G A synonymous_variant K147K 441G>A UCEC-US 14 73659520 73659520 single base substitution G A synonymous_variant K235K 705G>A UCEC-US 14 73659520 73659520 single base substitution G A synonymous_variant K239K 717G>A UCEC-US 14 73659520 73659520 single base substitution G A upstream_gene_variant UCEC-US 14 73673122 73673124 deletion of <=200bp AGA - exon_variant UCEC-US 14 73673122 73673124 deletion of <=200bp AGA - inframe_deletion AE207A UCEC-US 14 73673122 73673124 deletion of <=200bp AGA - inframe_deletion AE295A UCEC-US 14 73673122 73673124 deletion of <=200bp AGA - inframe_deletion AE299A UCEC-US 14 73673138 73673138 single base substitution G A exon_variant UCEC-US 14 73673138 73673138 single base substitution G A missense_variant A213T 637G>A UCEC-US 14 73673138 73673138 single base substitution G A missense_variant A301T 901G>A UCEC-US 14 73673138 73673138 single base substitution G A missense_variant A305T 913G>A UCEC-US 14 73683937 73683937 single base substitution C T 3_prime_UTR_variant UCEC-US 14 73683937 73683937 single base substitution C T downstream_gene_variant UCEC-US 14 73683937 73683937 single base substitution C T exon_variant UCEC-US 14 73683937 73683937 single base substitution C T synonymous_variant F319F 957C>T UCEC-US 14 73683937 73683937 single base substitution C T synonymous_variant F353F 1059C>T UCEC-US 14 73683937 73683937 single base substitution C T synonymous_variant F407F 1221C>T UCEC-US 14 73683937 73683937 single base substitution C T synonymous_variant F411F 1233C>T UCEC-US 14 73685880 73685880 single base substitution G T 3_prime_UTR_variant UCEC-US 14 73685880 73685880 single base substitution G T downstream_gene_variant UCEC-US 14 73685880 73685880 single base substitution G T exon_variant UCEC-US 14 73685880 73685880 single base substitution G T missense_variant K337N 1011G>T UCEC-US 14 73685880 73685880 single base substitution G T missense_variant K371N 1113G>T UCEC-US 14 73685880 73685880 single base substitution G T missense_variant K425N 1275G>T UCEC-US 14 73685880 73685880 single base substitution G T missense_variant K429N 1287G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CSCC-42-T COSM4454238 c.442A>G p.I148V Substitution - Missense 14:73173669-73173669 + TCGA-22-5489-01 COSM698731 c.481-1G>C p.? Unknown 14:73186852-73186852 + TCGA-D3-A3C8-06 COSM2136906 c.414C>T p.I138I Substitution - coding silent 14:73173641-73173641 + TCGA-D1-A17H-01 COSM957596 c.897_899delAGA p.E300delE Deletion - In frame 14:73206414-73206416 + TCGA-FU-A3HZ-01 COSM4839338 c.630G>T p.M210I Substitution - Missense 14:73192725-73192725 + 1N36-VS-1T36 COSM276929 c.737C>T p.A246V Substitution - Missense 14:73192832-73192832 + TCGA-ER-A19O-06 COSM3497746 c.261C>T p.V87V Substitution - coding silent 14:73170970-73170970 + TCGA-AD-5900-01 COSM3690178 c.1002C>T p.G334G Substitution - coding silent 14:73211815-73211815 + TCGA-FU-A3HZ-01 COSM4840702 c.1321T>G p.F441V Substitution - Missense 14:73219206-73219206 + TCGA-BH-A18P-01 COSM433334 c.211G>A p.E71K Substitution - Missense 14:73170920-73170920 + PD3295a COSM51945 c.944A>G p.Y315C Substitution - Missense 14:73206461-73206461 + TCGA-AA-A010-01 COSM284319 c.805C>T p.R269C Substitution - Missense 14:73198066-73198066 + HCC24T COSM1607929 c.922A>G p.R308G Substitution - Missense 14:73206439-73206439 + pfg025T COSM1640148 c.87+9T>C p.? Unknown 14:73148115-73148115 + RK261_C01 COSM4778353 c.769+3A>G p.? Unknown 14:73192867-73192867 + TCGA-AX-A05S-01 COSM957594 c.697A>G p.M233V Substitution - Missense 14:73192792-73192792 + TCGA-DK-A2HX-01 COSM1300806 c.775G>A p.V259M Substitution - Missense 14:73198036-73198036 + TCGA-C5-A1M9-01 COSM4830917 c.151T>C p.S51P Substitution - Missense 14:73170860-73170860 + HX28T COSM1607929 c.922A>G p.R308G Substitution - Missense 14:73206439-73206439 + CSCC-10-T COSM4513464 c.939C>T p.S313S Substitution - coding silent 14:73206456-73206456 + T578 COSM4718355 c.1214A>G p.N405S Substitution - Missense 14:73217210-73217210 + ESCC_BICR_060T COSM957598 c.1233C>T p.F411F Substitution - coding silent 14:73217229-73217229 + TCGA-B5-A0JY-01 COSM957592 c.525C>A p.F175L Substitution - Missense 14:73186897-73186897 + 6115122 COSM470213 c.1392A>G p.Q464Q Substitution - coding silent 14:73219277-73219277 + TCGA-66-2754-01 COSM698729 c.769G>A p.D257N Substitution - Missense 14:73192864-73192864 + TCGA-51-4081-01 COSM698730 c.721C>T p.L241F Substitution - Missense 14:73192816-73192816 + RKO COSM2136903 c.202_204delGAA p.E69delE Deletion - In frame 14:73170911-73170913 + PCSI_0083_Pa_X COSM3377453 c.294T>C p.A98A Substitution - coding silent 14:73171003-73171003 + TCGA-AA-A00N-01 COSM276929 c.737C>T p.A246V Substitution - Missense 14:73192832-73192832 + PCSI_0083_Pa_P_526 COSM276929 c.737C>T p.A246V Substitution - Missense 14:73192832-73192832 + TCGA-EJ-5525-01 COSM1128208 c.806G>T p.R269L Substitution - Missense 14:73198067-73198067 + Pat_76_A COSM5848486 c.1319C>T p.T440I Substitution - Missense 14:73219204-73219204 + TCGA-AX-A05Z-01 COSM957598 c.1233C>T p.F411F Substitution - coding silent 14:73217229-73217229 + TCGA-DA-A1I7-06 COSM3497749 c.1313C>T p.S438F Substitution - Missense 14:73219198-73219198 + TCGA-CG-4305-01 COSM1222302 c.124C>T p.R42W Substitution - Missense 14:73170833-73170833 + TCGA-E7-A3X6-01 COSM3793832 c.1158C>A p.F386L Substitution - Missense 14:73217154-73217154 + TCGA-AX-A060-01 COSM957595 c.717G>A p.K239K Substitution - coding silent 14:73192812-73192812 + TK10 COSM1683480 c.781_782insG p.V261fs*13 Insertion - Frameshift 14:73198042-73198043 + TCGA-76-4935-01 COSM3401452 c.1100G>C p.S367T Substitution - Missense 14:73211913-73211913 + T3021 COSM4718354 c.526delT p.S178fs*24 Deletion - Frameshift 14:73186898-73186898 + PCSI_0083_Pa_X COSM276929 c.737C>T p.A246V Substitution - Missense 14:73192832-73192832 + TCGA-BR-8680-01 COSM4052236 c.1264T>G p.L422V Substitution - Missense 14:73219149-73219149 + LU-1991 COSM5616792 c.400C>T p.L134L Substitution - coding silent 14:73173627-73173627 + ESO-143 COSM1263230 c.573T>C p.V191V Substitution - coding silent 14:73192668-73192668 + TCGA-B5-A11E-01 COSM957597 c.913G>A p.A305T Substitution - Missense 14:73206430-73206430 + TCGA-DY-A1DD-01 COSM1562548 c.289G>A p.V97M Substitution - Missense 14:73170998-73170998 + TCGA-AZ-6601-01 COSM276929 c.737C>T p.A246V Substitution - Missense 14:73192832-73192832 + 61 COSM5740161 c.974A>G p.Q325R Substitution - Missense 14:73211787-73211787 + Au4 COSM5604611 c.609G>A p.W203* Substitution - Nonsense 14:73192704-73192704 + TCGA-CM-6171-01 COSM5160031 c.80G>A p.R27H Substitution - Missense 14:73148099-73148099 + TCGA-B5-A11E-01 COSM957599 c.1287G>T p.K429N Substitution - Missense 14:73219172-73219172 + 107129 COSM95648 c.961G>T p.E321* Substitution - Nonsense 14:73211774-73211774 + PDA_085 COSM5002781 c.386C>A p.A129D Substitution - Missense 14:73173613-73173613 + TCGA-D8-A27G-01 COSM3815253 c.782T>G p.V261G Substitution - Missense 14:73198043-73198043 + TCGA-AA-3821-01 COSM294727 c.407C>T p.A136V Substitution - Missense 14:73173634-73173634 + SC_9047 COSM5554903 c.625G>T p.G209* Substitution - Nonsense 14:73192720-73192720 + 855_CLM COSM5754622 c.545T>C p.L182S Substitution - Missense 14:73186917-73186917 + TCGA-39-5028-01 COSM698728 c.1272C>T p.L424L Substitution - coding silent 14:73219157-73219157 + TCGA-EE-A2MI-06 COSM2136906 c.414C>T p.I138I Substitution - coding silent 14:73173641-73173641 + TCGA-FU-A23L-01 COSM459114 c.961G>A p.E321K Substitution - Missense 14:73211774-73211774 + CSCC-55-T COSM4567861 c.901_902GG>AA p.G301K Substitution - Missense 14:73206418-73206419 + PCSI_0083_Pa_P COSM276929 c.737C>T p.A246V Substitution - Missense 14:73192832-73192832 + 8035749 COSM4781582 c.1249-1G>A p.? Unknown 14:73219133-73219133 + 5853_CLM COSM5754622 c.545T>C p.L182S Substitution - Missense 14:73186917-73186917 + 011T COSM1727660 c.994G>T p.D332Y Substitution - Missense 14:73211807-73211807 + TCGA-BT-A0YX-01 COSM416620 c.7G>A p.E3K Substitution - Missense 14:73148026-73148026 + ESO-1060 COSM1263229 c.48G>A p.M16I Substitution - Missense 14:73148067-73148067 + CSCC-31-T COSM4458919 c.1104C>T p.I368I Substitution - coding silent 14:73211917-73211917 + TCGA-MI-A75E-01 COSM4939869 c.538A>G p.I180V Substitution - Missense 14:73186910-73186910 + TCGA-D1-A16X-01 COSM957591 c.498T>G p.L166L Substitution - coding silent 14:73186870-73186870 + 16461 COSM2136909 c.658C>T p.R220* Substitution - Nonsense 14:73192753-73192753 + 587228 COSM1222302 c.124C>T p.R42W Substitution - Missense 14:73170833-73170833 + CSCC-27-T COSM4564528 c.1249-1_1249GG>AA p.? Unknown 14:73219133-73219134 + S02237 COSM5676454 c.277A>G p.M93V Substitution - Missense 14:73170986-73170986 + PCSI_0083_Pa_P_526 COSM3377453 c.294T>C p.A98A Substitution - coding silent 14:73171003-73171003 + T3724 COSM4718353 c.525_526insT p.S178fs*10 Insertion - Frameshift 14:73186897-73186898 + PAPNNX COSM5005092 c.1055G>A p.R352H Substitution - Missense 14:73211868-73211868 + 631092 COSM326257 c.3G>A p.M1I Substitution - Missense 14:73148022-73148022 + TCGA-GV-A3JX-01 COSM1300805 c.91G>A p.D31N Substitution - Missense 14:73170800-73170800 + TCGA-A8-A0A6-01 COSM3815251 c.137A>C p.H46P Substitution - Missense 14:73170846-73170846 + TCGA-F5-6814-01 COSM3420010 c.909G>A p.P303P Substitution - coding silent 14:73206426-73206426 + CSCC-37-T COSM4559123 c.792G>A p.P264P Substitution - coding silent 14:73198053-73198053 + LUAD_E00565 COSM389139 c.410C>T p.A137V Substitution - Missense 14:73173637-73173637 + TCGA-B8-5163-01 COSM470213 c.1392A>G p.Q464Q Substitution - coding silent 14:73219277-73219277 + TCGA-HU-A4H8-01 COSM4052234 c.233G>A p.G78D Substitution - Missense 14:73170942-73170942 + Pat_76_B COSM5848486 c.1319C>T p.T440I Substitution - Missense 14:73219204-73219204 + TCGA-AP-A053-01 COSM957593 c.646A>G p.K216E Substitution - Missense 14:73192741-73192741 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.3260 14q24.3 104311 2428676|CGAP|BC011729|A/G|non-coding||2603|Validated; 1510450|dbSNP|BC011729|G/T|coding|Phe201Leu|867|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.548+2016A>C 14 73655644 CLL AGA - InFrameDeletion p.E300delE c.899_901delAAG 14 73673122 UCEC A G Missense p.K216E c.646A>G 14 73659449 UCEC A G Synonymous p.Q464Q c.1392A>G 14 73685985 RCCC C A Missense p.A234D c.701C>A 14 73659504 LUAD C T Missense p.L241F c.721C>T 14 73659524 LUSC C T Missense p.R42W c.124C>T 14 73637541 STAD C T Missense p.S438F c.1313C>T 14 73685906 CM C T Nonsense p.R220* c.658C>T 14 73659461 NSCLC C T Synonymous p.I138I c.414C>T 14 73640349 CM C T Synonymous p.L134L c.400C>T 14 73640335 NSCLC C T Synonymous p.L424L c.1272C>T 14 73685865 LUSC C T Synonymous p.V161V c.483C>T 14 73653563 LUAD C T Synonymous p.V87V c.261C>T 14 73637678 CM G A Missense p.D257N c.769G>A 14 73659572 LUSC G A Missense p.D31N c.91G>A 14 73637508 BLCA G A Missense p.E3K c.7G>A 14 73614734 BLCA G A Missense p.M16I c.48G>A 14 73614775 ESCA G A Missense p.M1I c.3G>A 14 73614730 SCLC G A Missense p.V259M c.775G>A 14 73664744 BLCA G A Synonymous p.K239K c.717G>A 14 73659520 UCEC G C Missense p.S367T c.1100G>C 14 73678621 GBM G C SpliceAcceptorSNV . c.481-1G>C 14 73653560 LUSC G T Missense p.E72D c.216G>T 14 73637633 CM G T Missense p.R269L c.806G>T 14 73664775 PRAD T A IntronicSNV . c.1130-2148T>A 14 73681686 CLL T C IntronicSNV . c.87+9T>C 14 73614823 STAD T C Synonymous p.V191V c.573T>C 14 73659376 ESCA TTTTTTCAGGGAAGTGTTTAAAACCTA - SpliceAcceptorDeletion . c.549-8_567delTTTTTCAGGGAAGTGTTTAAAACCTAT 14 73659343 BLCA