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 13 100037588 100037588 + Silent SNP G G A TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr13:100037588G>A c.1034G>A c.(1033-1035)tGa>tAa p.*345* BLCA 13 99853702 99853702 + Intron SNP G G A TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr13:99853702G>A BLCA 13 99853753 99853753 + Intron SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 g.chr13:99853753C>T BLCA 13 99992667 99992667 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 g.chr13:99992667G>C c.655G>C c.(655-657)Gaa>Caa p.E219Q BRCA 13 99890758 99890758 + Missense_Mutation SNP T T C TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 g.chr13:99890758T>C c.109T>C c.(109-111)Tgc>Cgc p.C37R COAD 13 100020087 100020087 + Missense_Mutation SNP G G A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr13:100020087G>A c.854G>A c.(853-855)cGa>cAa p.R285Q COAD 13 100020095 100020095 + Missense_Mutation SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr13:100020095G>A c.862G>A c.(862-864)Gta>Ata p.V288I COAD 13 100037484 100037484 + Silent SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr13:100037484C>T c.930C>T c.(928-930)gtC>gtT p.V310V COADREAD 13 100020087 100020087 + Missense_Mutation SNP G G A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr13:100020087G>A c.854G>A c.(853-855)cGa>cAa p.R285Q COADREAD 13 100020095 100020095 + Missense_Mutation SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr13:100020095G>A c.862G>A c.(862-864)Gta>Ata p.V288I COADREAD 13 100037484 100037484 + Silent SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr13:100037484C>T c.930C>T c.(928-930)gtC>gtT p.V310V ESCA 13 99853785 99853785 + Intron SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 g.chr13:99853785G>T ESCA 13 99890703 99890703 + Frame_Shift_Del DEL C C - TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 g.chr13:99890703delC c.54delC c.(52-54)agcfs p.S18fs ESCA 13 99970286 99970286 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 g.chr13:99970286C>G c.524C>G c.(523-525)tCt>tGt p.S175C GBMLGG 13 99853778 99853778 + Intron SNP G G T TCGA-E1-5311-01A-01D-1468-08 TCGA-E1-5311-10A-01D-1468-08 g.chr13:99853778G>T HNSC 13 100020049 100020049 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 g.chr13:100020049G>C c.816G>C c.(814-816)atG>atC p.M272I HNSC 13 100037518 100037518 + Missense_Mutation SNP G G A TCGA-T2-A6WZ-01A-21D-A34J-08 TCGA-T2-A6WZ-10B-01D-A34M-08 g.chr13:100037518G>A c.964G>A c.(964-966)Gat>Aat p.D322N HNSC 13 100037588 100037588 + Silent SNP G G A TCGA-CV-A6JM-01A-11D-A31L-08 TCGA-CV-A6JM-10A-01D-A31J-08 g.chr13:100037588G>A c.1034G>A c.(1033-1035)tGa>tAa p.*345* KIPAN 13 99890774 99890774 + Missense_Mutation SNP T T C TCGA-G7-7502-01A-11D-2201-08 TCGA-G7-7502-10A-01D-2201-08 g.chr13:99890774T>C c.125T>C c.(124-126)gTg>gCg p.V42A KIRP 13 99890774 99890774 + Missense_Mutation SNP T T C TCGA-G7-7502-01A-11D-2201-08 TCGA-G7-7502-10A-01D-2201-08 g.chr13:99890774T>C c.125T>C c.(124-126)gTg>gCg p.V42A LGG 13 99853778 99853778 + Intron SNP G G T TCGA-E1-5311-01A-01D-1468-08 TCGA-E1-5311-10A-01D-1468-08 g.chr13:99853778G>T LIHC 13 100020041 100020041 + Splice_Site SNP G G A TCGA-FV-A4ZP-01A-12D-A25V-10 TCGA-FV-A4ZP-11A-12D-A25V-10 g.chr13:100020041G>A c.808G>A c.(808-810)Gga>Aga p.G270R LIHC 13 99853763 99853763 + Intron SNP G G A TCGA-G3-A3CK-01A-11D-A20W-10 TCGA-G3-A3CK-10A-01D-A20W-10 g.chr13:99853763G>A LIHC 13 99896772 99896772 + Frame_Shift_Del DEL T T - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr13:99896772delT c.283delT c.(283-285)tttfs p.F95fs LUAD 13 99896102 99896102 + Missense_Mutation SNP G G T TCGA-17-Z018-01A-01W-0746-08 TCGA-17-Z018-11A-01W-0746-08 g.chr13:99896102G>T c.176G>T c.(175-177)tGt>tTt p.C59F LUAD 13 99992718 99992718 + Nonsense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 g.chr13:99992718G>T c.706G>T c.(706-708)Gga>Tga p.G236* LUSC 13 100020152 100020152 + Missense_Mutation SNP G G A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 g.chr13:100020152G>A c.919G>A c.(919-921)Gag>Aag p.E307K OV 13 100020095 100020095 + Missense_Mutation SNP G G A TCGA-29-1710-01A-02W-0633-09 TCGA-29-1710-10A-01W-0633-09 g.chr13:100020095G>A c.862G>A c.(862-864)Gta>Ata p.V288I OV 13 99966370 99966370 + Missense_Mutation SNP C C G TCGA-25-1313-01A-01W-0492-08 TCGA-25-1313-10A-01W-0492-08 g.chr13:99966370C>G c.409C>G c.(409-411)Ctg>Gtg p.L137V SKCM 13 100020071 100020071 + Missense_Mutation SNP C C T TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr13:100020071C>T c.838C>T c.(838-840)Cct>Tct p.P280S SKCM 13 99853796 99853796 + Intron SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr13:99853796C>T SKCM 13 99890808 99890808 + Splice_Site SNP G G A TCGA-EE-A29H-06A-12D-A197-08 TCGA-EE-A29H-10A-01D-A199-08 g.chr13:99890808G>A c.159G>A c.(157-159)caG>caA p.Q53Q SKCM 13 99896180 99896180 + Missense_Mutation SNP G G T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 g.chr13:99896180G>T c.254G>T c.(253-255)aGa>aTa p.R85I SKCM 13 99966405 99966405 + Silent SNP C C T TCGA-EE-A2GH-06A-11D-A196-08 TCGA-EE-A2GH-10A-01D-A198-08 g.chr13:99966405C>T c.444C>T c.(442-444)gtC>gtT p.V148V SKCM 13 99992680 99992680 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr13:99992680C>T c.668C>T c.(667-669)tCt>tTt p.S223F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 13 99908146 99908146 single base substitution C G intron_variant BLCA-US 13 99908094 99908094 single base substitution G C intron_variant BLCA-US 13 99992667 99992667 single base substitution G C exon_variant BLCA-US 13 99992667 99992667 single base substitution G C missense_variant E184Q 550G>C BLCA-US 13 99992667 99992667 single base substitution G C missense_variant E219Q 655G>C BLCA-US 13 99992667 99992667 single base substitution G C missense_variant E85Q 253G>C BOCA-FR 13 99949443 99949443 single base substitution C A intron_variant BOCA-UK 13 100037489 100037489 single base substitution G A exon_variant BOCA-UK 13 100037489 100037489 single base substitution G A missense_variant R178Q 533G>A BOCA-UK 13 100037489 100037489 single base substitution G A missense_variant R277Q 830G>A BOCA-UK 13 100037489 100037489 single base substitution G A missense_variant R312Q 935G>A BRCA-EU 13 100000035 100000035 single base substitution C G intron_variant BRCA-EU 13 100001330 100001330 single base substitution C G intron_variant BRCA-EU 13 100001931 100001931 single base substitution C T intron_variant BRCA-EU 13 100002256 100002256 single base substitution C G intron_variant BRCA-EU 13 100002668 100002668 single base substitution C T intron_variant BRCA-EU 13 100002697 100002697 single base substitution C T intron_variant BRCA-EU 13 100002772 100002772 single base substitution G C intron_variant BRCA-EU 13 100002790 100002790 single base substitution G A intron_variant BRCA-EU 13 100003401 100003401 deletion of <=200bp A - intron_variant BRCA-EU 13 100006319 100006319 single base substitution G A intron_variant BRCA-EU 13 100008337 100008337 single base substitution G C intron_variant BRCA-EU 13 100008655 100008655 single base substitution T C intron_variant BRCA-EU 13 100008824 100008824 single base substitution G A intron_variant BRCA-EU 13 100009593 100009593 single base substitution G A intron_variant BRCA-EU 13 100010630 100010630 single base substitution G A intron_variant BRCA-EU 13 100011706 100011706 single base substitution C G intron_variant BRCA-EU 13 100012103 100012103 single base substitution C T intron_variant BRCA-EU 13 100012150 100012150 single base substitution G C intron_variant BRCA-EU 13 100013124 100013124 single base substitution C T intron_variant BRCA-EU 13 100013217 100013217 single base substitution C T intron_variant BRCA-EU 13 100014143 100014143 single base substitution C G intron_variant BRCA-EU 13 100016276 100016276 single base substitution T G intron_variant BRCA-EU 13 100016276 100016276 single base substitution T G upstream_gene_variant BRCA-EU 13 100017766 100017766 single base substitution A G intron_variant BRCA-EU 13 100017766 100017766 single base substitution A G upstream_gene_variant BRCA-EU 13 100020309 100020309 deletion of <=200bp T - intron_variant BRCA-EU 13 100022607 100022607 single base substitution G T intron_variant BRCA-EU 13 100023348 100023348 deletion of <=200bp A - intron_variant BRCA-EU 13 100024709 100024709 single base substitution G C intron_variant BRCA-EU 13 100025044 100025044 single base substitution C T intron_variant BRCA-EU 13 100026056 100026056 single base substitution G C intron_variant BRCA-EU 13 100026097 100026097 single base substitution G A intron_variant BRCA-EU 13 100026275 100026275 single base substitution T A intron_variant BRCA-EU 13 100026550 100026550 single base substitution G A intron_variant BRCA-EU 13 100027478 100027478 single base substitution G C intron_variant BRCA-EU 13 100027771 100027771 single base substitution G A intron_variant BRCA-EU 13 100030022 100030022 single base substitution G A downstream_gene_variant BRCA-EU 13 100030022 100030022 single base substitution G A intron_variant BRCA-EU 13 100030990 100030990 single base substitution A T downstream_gene_variant BRCA-EU 13 100030990 100030990 single base substitution A T intron_variant BRCA-EU 13 100032282 100032282 single base substitution G A downstream_gene_variant BRCA-EU 13 100032282 100032282 single base substitution G A intron_variant BRCA-EU 13 100032479 100032479 single base substitution A T downstream_gene_variant BRCA-EU 13 100032479 100032479 single base substitution A T intron_variant BRCA-EU 13 100032480 100032480 single base substitution A T downstream_gene_variant BRCA-EU 13 100032480 100032480 single base substitution A T intron_variant BRCA-EU 13 100032987 100032987 single base substitution T C downstream_gene_variant BRCA-EU 13 100032987 100032987 single base substitution T C intron_variant BRCA-EU 13 100033522 100033522 single base substitution A T downstream_gene_variant BRCA-EU 13 100033522 100033522 single base substitution A T intron_variant BRCA-EU 13 100034851 100034851 single base substitution G T intron_variant BRCA-EU 13 100035673 100035673 single base substitution C G intron_variant BRCA-EU 13 100035895 100035895 single base substitution C T intron_variant BRCA-EU 13 100036139 100036139 single base substitution C T intron_variant BRCA-EU 13 100038504 100038504 single base substitution G C 3_prime_UTR_variant BRCA-EU 13 100038504 100038504 single base substitution G C downstream_gene_variant BRCA-EU 13 100038504 100038504 single base substitution G C exon_variant BRCA-EU 13 100040350 100040350 single base substitution G C downstream_gene_variant BRCA-EU 13 100043427 100043427 single base substitution G C downstream_gene_variant BRCA-EU 13 99848083 99848083 single base substitution C T upstream_gene_variant BRCA-EU 13 99848144 99848144 single base substitution A G upstream_gene_variant BRCA-EU 13 99849905 99849905 single base substitution C T upstream_gene_variant BRCA-EU 13 99851177 99851177 single base substitution T A upstream_gene_variant BRCA-EU 13 99852166 99852166 single base substitution T G upstream_gene_variant BRCA-EU 13 99853377 99853377 single base substitution C T 5_prime_UTR_variant BRCA-EU 13 99853377 99853377 single base substitution C T intron_variant BRCA-EU 13 99853574 99853574 single base substitution C T 5_prime_UTR_variant BRCA-EU 13 99853574 99853574 single base substitution C T intron_variant BRCA-EU 13 99855403 99855403 single base substitution G T intron_variant BRCA-EU 13 99857861 99857864 deletion of <=200bp ACAA - intron_variant BRCA-EU 13 99858065 99858065 single base substitution G A intron_variant BRCA-EU 13 99858429 99858429 single base substitution G A intron_variant BRCA-EU 13 99858578 99858578 single base substitution A G intron_variant BRCA-EU 13 99859247 99859247 single base substitution C T intron_variant BRCA-EU 13 99859293 99859293 deletion of <=200bp T - intron_variant BRCA-EU 13 99859338 99859338 single base substitution C T intron_variant BRCA-EU 13 99861473 99861473 single base substitution G T intron_variant BRCA-EU 13 99864921 99864921 deletion of <=200bp A - intron_variant BRCA-EU 13 99865865 99865865 single base substitution C G intron_variant BRCA-EU 13 99867740 99867740 single base substitution T C intron_variant BRCA-EU 13 99868040 99868040 single base substitution G A intron_variant BRCA-EU 13 99869540 99869540 single base substitution A G intron_variant BRCA-EU 13 99871705 99871705 single base substitution G A intron_variant BRCA-EU 13 99873019 99873019 single base substitution C G intron_variant BRCA-EU 13 99873130 99873130 deletion of <=200bp T - intron_variant BRCA-EU 13 99875936 99875936 single base substitution T G intron_variant BRCA-EU 13 99876077 99876077 single base substitution G C intron_variant BRCA-EU 13 99877159 99877159 single base substitution T C intron_variant BRCA-EU 13 99878522 99878522 single base substitution C T intron_variant BRCA-EU 13 99878999 99878999 single base substitution C G intron_variant BRCA-EU 13 99879816 99879816 single base substitution G C intron_variant BRCA-EU 13 99881815 99881815 single base substitution A G intron_variant BRCA-EU 13 99881997 99881997 single base substitution A G intron_variant BRCA-EU 13 99883074 99883074 single base substitution G A intron_variant BRCA-EU 13 99884849 99884849 single base substitution G C intron_variant BRCA-EU 13 99885037 99885037 deletion of <=200bp A - intron_variant BRCA-EU 13 99885869 99885869 single base substitution G A intron_variant BRCA-EU 13 99886862 99886862 single base substitution C T intron_variant BRCA-EU 13 99888932 99888932 single base substitution C T intron_variant BRCA-EU 13 99889413 99889413 single base substitution T A intron_variant BRCA-EU 13 99890276 99890276 single base substitution A G intron_variant BRCA-EU 13 99891388 99891388 single base substitution C G intron_variant BRCA-EU 13 99891534 99891534 single base substitution T C intron_variant BRCA-EU 13 99891546 99891546 single base substitution G T intron_variant BRCA-EU 13 99892482 99892482 insertion of <=200bp - GGTA intron_variant BRCA-EU 13 99892482 99892482 insertion of <=200bp - GGTA upstream_gene_variant BRCA-EU 13 99893758 99893758 single base substitution T G intron_variant BRCA-EU 13 99893758 99893758 single base substitution T G upstream_gene_variant BRCA-EU 13 99896912 99896912 single base substitution A G downstream_gene_variant BRCA-EU 13 99896912 99896912 single base substitution A G intron_variant BRCA-EU 13 99898088 99898088 single base substitution C G downstream_gene_variant BRCA-EU 13 99898088 99898088 single base substitution C G intron_variant BRCA-EU 13 99900226 99900226 single base substitution C T downstream_gene_variant BRCA-EU 13 99900226 99900226 single base substitution C T intron_variant BRCA-EU 13 99900802 99900802 insertion of <=200bp - T downstream_gene_variant BRCA-EU 13 99900802 99900802 insertion of <=200bp - T intron_variant BRCA-EU 13 99902226 99902226 single base substitution A G intron_variant BRCA-EU 13 99902476 99902476 single base substitution T C intron_variant BRCA-EU 13 99902798 99902821 deletion of <=200bp CTATTTGGGGCTCTTTTTTTGGTT - intron_variant BRCA-EU 13 99903146 99903146 single base substitution G A intron_variant BRCA-EU 13 99903487 99903487 single base substitution C T intron_variant BRCA-EU 13 99903653 99903653 single base substitution G A intron_variant BRCA-EU 13 99906605 99906605 single base substitution C A intron_variant BRCA-EU 13 99907041 99907041 single base substitution G C intron_variant BRCA-EU 13 99912991 99912991 single base substitution G C intron_variant BRCA-EU 13 99913202 99913202 single base substitution C T intron_variant BRCA-EU 13 99915255 99915255 single base substitution G C intron_variant BRCA-EU 13 99916700 99916700 single base substitution T G intron_variant BRCA-EU 13 99917339 99917339 insertion of <=200bp - T intron_variant BRCA-EU 13 99917955 99917955 single base substitution C G intron_variant BRCA-EU 13 99918117 99918117 single base substitution G A intron_variant BRCA-EU 13 99918395 99918395 single base substitution A T intron_variant BRCA-EU 13 99918730 99918730 single base substitution C G intron_variant BRCA-EU 13 99918787 99918787 single base substitution C T intron_variant BRCA-EU 13 99918939 99918940 deletion of <=200bp AT - intron_variant BRCA-EU 13 99919500 99919500 single base substitution C T intron_variant BRCA-EU 13 99921523 99921523 single base substitution G A intron_variant BRCA-EU 13 99922512 99922512 single base substitution C G intron_variant BRCA-EU 13 99922864 99922864 single base substitution C T intron_variant BRCA-EU 13 99923900 99923900 single base substitution G C intron_variant BRCA-EU 13 99924613 99924613 single base substitution C T intron_variant BRCA-EU 13 99926047 99926047 single base substitution A G intron_variant BRCA-EU 13 99927454 99927454 single base substitution C T intron_variant BRCA-EU 13 99928271 99928271 single base substitution G C intron_variant BRCA-EU 13 99928659 99928659 single base substitution G T intron_variant BRCA-EU 13 99928881 99928881 single base substitution C A intron_variant BRCA-EU 13 99930085 99930085 single base substitution C G intron_variant BRCA-EU 13 99930255 99930255 single base substitution G A intron_variant BRCA-EU 13 99930446 99930446 single base substitution A G intron_variant BRCA-EU 13 99935257 99935257 single base substitution T G intron_variant BRCA-EU 13 99935845 99935845 single base substitution G A intron_variant BRCA-EU 13 99935856 99935896 deletion of <=200bp GGGTCTGAGGATTGAGTCACTAAGTGACGGCTACTTAAGTG - intron_variant BRCA-EU 13 99936844 99936844 single base substitution T C intron_variant BRCA-EU 13 99938151 99938151 single base substitution A T intron_variant BRCA-EU 13 99939618 99939618 single base substitution C G intron_variant BRCA-EU 13 99941370 99941370 single base substitution G T intron_variant BRCA-EU 13 99941671 99941671 single base substitution T A intron_variant BRCA-EU 13 99941674 99941674 single base substitution G T intron_variant BRCA-EU 13 99941786 99941786 single base substitution A G intron_variant BRCA-EU 13 99942759 99942759 single base substitution C T intron_variant BRCA-EU 13 99943765 99943765 deletion of <=200bp T - intron_variant BRCA-EU 13 99944631 99944631 single base substitution C T intron_variant BRCA-EU 13 99948524 99948524 single base substitution G C intron_variant BRCA-EU 13 99949892 99949892 single base substitution A T intron_variant BRCA-EU 13 99952309 99952309 single base substitution C T intron_variant BRCA-EU 13 99954021 99954021 single base substitution C G intron_variant BRCA-EU 13 99955292 99955292 single base substitution T G intron_variant BRCA-EU 13 99955292 99955292 single base substitution T G upstream_gene_variant BRCA-EU 13 99955984 99955984 single base substitution G T intron_variant BRCA-EU 13 99955984 99955984 single base substitution G T upstream_gene_variant BRCA-EU 13 99956438 99956438 single base substitution G C intron_variant BRCA-EU 13 99956438 99956438 single base substitution G C upstream_gene_variant BRCA-EU 13 99959791 99959791 deletion of <=200bp T - intron_variant BRCA-EU 13 99959791 99959791 deletion of <=200bp T - upstream_gene_variant BRCA-EU 13 99959811 99959811 single base substitution G T intron_variant BRCA-EU 13 99959811 99959811 single base substitution G T upstream_gene_variant BRCA-EU 13 99960654 99960654 single base substitution T A intron_variant BRCA-EU 13 99960654 99960654 single base substitution T A upstream_gene_variant BRCA-EU 13 99962037 99962037 single base substitution G T intron_variant BRCA-EU 13 99962037 99962037 single base substitution G T upstream_gene_variant BRCA-EU 13 99962991 99962991 single base substitution A G intron_variant BRCA-EU 13 99962991 99962991 single base substitution A G upstream_gene_variant BRCA-EU 13 99963655 99963655 single base substitution T A intron_variant BRCA-EU 13 99963655 99963655 single base substitution T A upstream_gene_variant BRCA-EU 13 99964565 99964565 single base substitution G A intron_variant BRCA-EU 13 99964565 99964565 single base substitution G A upstream_gene_variant BRCA-EU 13 99965200 99965200 insertion of <=200bp - T exon_variant BRCA-EU 13 99965200 99965200 insertion of <=200bp - T intron_variant BRCA-EU 13 99965200 99965200 insertion of <=200bp - T upstream_gene_variant BRCA-EU 13 99966328 99966328 deletion of <=200bp T - intron_variant BRCA-EU 13 99966328 99966328 deletion of <=200bp T - upstream_gene_variant BRCA-EU 13 99969607 99969607 deletion of <=200bp T - downstream_gene_variant BRCA-EU 13 99969607 99969607 deletion of <=200bp T - intron_variant BRCA-EU 13 99972534 99972534 single base substitution C T intron_variant BRCA-EU 13 99973721 99973721 single base substitution C T intron_variant BRCA-EU 13 99974082 99974082 single base substitution G T intron_variant BRCA-EU 13 99974808 99974808 single base substitution C G intron_variant BRCA-EU 13 99974852 99974852 single base substitution C A intron_variant BRCA-EU 13 99976402 99976402 single base substitution G A intron_variant BRCA-EU 13 99977096 99977096 single base substitution G A intron_variant BRCA-EU 13 99977347 99977347 single base substitution A G intron_variant BRCA-EU 13 99977779 99977779 single base substitution C A intron_variant BRCA-EU 13 99979058 99979058 single base substitution G A intron_variant BRCA-EU 13 99979740 99979740 single base substitution G C intron_variant BRCA-EU 13 99980010 99980010 single base substitution C G intron_variant BRCA-EU 13 99982639 99982639 single base substitution G A intron_variant BRCA-EU 13 99984790 99984790 single base substitution G C intron_variant BRCA-EU 13 99984947 99984947 single base substitution C G intron_variant BRCA-EU 13 99985369 99985369 single base substitution G A intron_variant BRCA-EU 13 99986907 99986907 single base substitution A G intron_variant BRCA-EU 13 99987465 99987465 single base substitution C G intron_variant BRCA-EU 13 99987761 99987761 single base substitution G A intron_variant BRCA-EU 13 99989294 99989294 single base substitution C G intron_variant BRCA-EU 13 99990782 99990782 single base substitution C T intron_variant BRCA-EU 13 99994365 99994365 single base substitution G A downstream_gene_variant BRCA-EU 13 99994365 99994365 single base substitution G A intron_variant BRCA-EU 13 99997082 99997082 single base substitution A T downstream_gene_variant BRCA-EU 13 99997082 99997082 single base substitution A T intron_variant BRCA-EU 13 99997128 99997128 single base substitution T C downstream_gene_variant BRCA-EU 13 99997128 99997128 single base substitution T C intron_variant BRCA-EU 13 99997508 99997508 single base substitution G T downstream_gene_variant BRCA-EU 13 99997508 99997508 single base substitution G T intron_variant BRCA-EU 13 99997515 99997515 single base substitution G C downstream_gene_variant BRCA-EU 13 99997515 99997515 single base substitution G C intron_variant BRCA-EU 13 99999077 99999077 single base substitution G A intron_variant BRCA-EU 13 99999804 99999804 single base substitution C T intron_variant BRCA-FR 13 100002016 100002016 single base substitution C T intron_variant BRCA-FR 13 100002256 100002256 single base substitution C G intron_variant BRCA-FR 13 100010630 100010630 single base substitution G A intron_variant BRCA-FR 13 100012150 100012150 single base substitution G C intron_variant BRCA-FR 13 100017766 100017766 single base substitution A G intron_variant BRCA-FR 13 100017766 100017766 single base substitution A G upstream_gene_variant BRCA-FR 13 99852910 99852910 single base substitution C T upstream_gene_variant BRCA-FR 13 99859619 99859619 single base substitution G T intron_variant BRCA-FR 13 99888932 99888932 single base substitution C T intron_variant BRCA-FR 13 99898088 99898088 single base substitution C G downstream_gene_variant BRCA-FR 13 99898088 99898088 single base substitution C G intron_variant BRCA-FR 13 99906605 99906605 single base substitution C A intron_variant BRCA-FR 13 99921165 99921165 single base substitution G C intron_variant BRCA-FR 13 99924613 99924613 single base substitution C T intron_variant BRCA-FR 13 99964565 99964565 single base substitution G A intron_variant BRCA-FR 13 99964565 99964565 single base substitution G A upstream_gene_variant BRCA-FR 13 99985369 99985369 single base substitution G A intron_variant BRCA-FR 13 99987465 99987465 single base substitution C G intron_variant BRCA-UK 13 100004240 100004240 single base substitution C T intron_variant BRCA-UK 13 100015927 100015927 single base substitution G A intron_variant BRCA-UK 13 100015927 100015927 single base substitution G A upstream_gene_variant BRCA-UK 13 100020052 100020052 single base substitution C G exon_variant BRCA-UK 13 100020052 100020052 single base substitution C G missense_variant I139M 417C>G BRCA-UK 13 100020052 100020052 single base substitution C G missense_variant I238M 714C>G BRCA-UK 13 100020052 100020052 single base substitution C G missense_variant I273M 819C>G BRCA-UK 13 100032987 100032987 single base substitution T C downstream_gene_variant BRCA-UK 13 100032987 100032987 single base substitution T C intron_variant BRCA-UK 13 99867811 99867811 single base substitution C T intron_variant BRCA-UK 13 99881997 99881997 single base substitution A G intron_variant BRCA-UK 13 99886553 99886553 single base substitution C T intron_variant BRCA-UK 13 99890276 99890276 single base substitution A G intron_variant BRCA-UK 13 99891546 99891546 single base substitution G T intron_variant BRCA-UK 13 99894782 99894782 single base substitution G C intron_variant BRCA-UK 13 99894782 99894782 single base substitution G C upstream_gene_variant BRCA-UK 13 99898888 99898888 single base substitution C T downstream_gene_variant BRCA-UK 13 99898888 99898888 single base substitution C T intron_variant BRCA-UK 13 99906019 99906019 single base substitution C G intron_variant BRCA-UK 13 99916700 99916700 single base substitution T G intron_variant BRCA-UK 13 99926047 99926047 single base substitution A G intron_variant BRCA-UK 13 99964457 99964457 single base substitution G A intron_variant BRCA-UK 13 99964457 99964457 single base substitution G A upstream_gene_variant BRCA-UK 13 99977096 99977096 single base substitution G A intron_variant BRCA-UK 13 99993880 99993880 single base substitution C T downstream_gene_variant BRCA-UK 13 99993880 99993880 single base substitution C T intron_variant BRCA-US 13 100008475 100008475 single base substitution A C intron_variant BRCA-US 13 99890758 99890758 single base substitution T C exon_variant BRCA-US 13 99890758 99890758 single base substitution T C missense_variant C37R 109T>C BRCA-US 13 99890758 99890758 single base substitution T C missense_variant C43R 127T>C BRCA-US 13 99890758 99890758 single base substitution T C synonymous_variant T78T 234T>C BRCA-US 13 99947551 99947551 single base substitution T C intron_variant BRCA-US 13 99947890 99947890 single base substitution A T intron_variant BRCA-US 13 99947891 99947891 single base substitution G A intron_variant BTCA-JP 13 100037563 100037563 single base substitution G A exon_variant BTCA-JP 13 100037563 100037563 single base substitution G A missense_variant A203T 607G>A BTCA-JP 13 100037563 100037563 single base substitution G A missense_variant A302T 904G>A BTCA-JP 13 100037563 100037563 single base substitution G A missense_variant A337T 1009G>A BTCA-JP 13 99890862 99890862 single base substitution C T intron_variant BTCA-JP 13 99896625 99896625 single base substitution A G intron_variant BTCA-JP 13 99896625 99896625 single base substitution A G upstream_gene_variant BTCA-JP 13 99907540 99907540 deletion of <=200bp A - intron_variant BTCA-JP 13 99966328 99966328 deletion of <=200bp T - intron_variant BTCA-JP 13 99966328 99966328 deletion of <=200bp T - upstream_gene_variant CESC-US 13 99907834 99907834 single base substitution C G intron_variant CESC-US 13 99948184 99948184 single base substitution A C intron_variant CLLE-ES 13 100005634 100005634 single base substitution A G intron_variant CLLE-ES 13 100020391 100020391 single base substitution G C intron_variant CLLE-ES 13 100027950 100027950 single base substitution C T intron_variant CLLE-ES 13 100035733 100035733 single base substitution T C intron_variant CLLE-ES 13 100040453 100040453 single base substitution A G downstream_gene_variant CLLE-ES 13 99867493 99867493 single base substitution C G intron_variant CLLE-ES 13 99900637 99900637 single base substitution A C downstream_gene_variant CLLE-ES 13 99900637 99900637 single base substitution A C intron_variant CLLE-ES 13 99901662 99901662 single base substitution G T downstream_gene_variant CLLE-ES 13 99901662 99901662 single base substitution G T intron_variant CLLE-ES 13 99928777 99928777 single base substitution G A intron_variant CLLE-ES 13 99949020 99949020 single base substitution A C intron_variant CLLE-ES 13 99956495 99956495 single base substitution C T intron_variant CLLE-ES 13 99956495 99956495 single base substitution C T upstream_gene_variant CLLE-ES 13 99972231 99972231 single base substitution T A intron_variant CLLE-ES 13 99977146 99977146 single base substitution A T intron_variant COAD-US 13 100020087 100020087 single base substitution G A exon_variant COAD-US 13 100020087 100020087 single base substitution G A missense_variant R151Q 452G>A COAD-US 13 100020087 100020087 single base substitution G A missense_variant R250Q 749G>A COAD-US 13 100020087 100020087 single base substitution G A missense_variant R285Q 854G>A COAD-US 13 99890687 99890687 single base substitution C T exon_variant COAD-US 13 99890687 99890687 single base substitution C T missense_variant A13V 38C>T COAD-US 13 99890687 99890687 single base substitution C T missense_variant A19V 56C>T COAD-US 13 99890687 99890687 single base substitution C T missense_variant R55C 163C>T COAD-US 13 99907555 99907555 single base substitution C T intron_variant COAD-US 13 99907874 99907874 single base substitution C A intron_variant COAD-US 13 99948097 99948097 single base substitution A G intron_variant COAD-US 13 99948212 99948212 single base substitution A T intron_variant COCA-CN 13 100020212 100020212 single base substitution G A intron_variant COCA-CN 13 99848187 99848187 single base substitution C T upstream_gene_variant COCA-CN 13 99895024 99895024 single base substitution C T intron_variant COCA-CN 13 99895024 99895024 single base substitution C T upstream_gene_variant COCA-CN 13 99896655 99896655 insertion of <=200bp - AC intron_variant COCA-CN 13 99896655 99896655 insertion of <=200bp - AC upstream_gene_variant COCA-CN 13 99896840 99896840 single base substitution C A exon_variant COCA-CN 13 99896840 99896840 single base substitution C A intron_variant COCA-CN 13 99896840 99896840 single base substitution C A missense_variant F117L 351C>A COCA-CN 13 99896840 99896840 single base substitution C A missense_variant F123L 369C>A COCA-CN 13 99907351 99907351 single base substitution G A intron_variant COCA-CN 13 99907445 99907445 single base substitution C T intron_variant COCA-CN 13 99947286 99947286 single base substitution G A intron_variant COCA-CN 13 99947767 99947767 single base substitution G T intron_variant COCA-CN 13 99947873 99947873 single base substitution G A intron_variant COCA-CN 13 99947950 99947950 single base substitution G A intron_variant COCA-CN 13 99948262 99948262 single base substitution G A intron_variant COCA-CN 13 99949331 99949331 single base substitution C T intron_variant COCA-CN 13 99966504 99966504 single base substitution C T downstream_gene_variant COCA-CN 13 99966504 99966504 single base substitution C T intron_variant COCA-CN 13 99966504 99966504 single base substitution C T upstream_gene_variant COCA-CN 13 99970257 99970257 single base substitution T C downstream_gene_variant COCA-CN 13 99970257 99970257 single base substitution T C intron_variant COCA-CN 13 99970353 99970354 deletion of <=200bp TC - downstream_gene_variant COCA-CN 13 99970353 99970354 deletion of <=200bp TC - intron_variant COCA-CN 13 99992487 99992487 single base substitution T C intron_variant COCA-CN 13 99992700 99992700 single base substitution G A exon_variant COCA-CN 13 99992700 99992700 single base substitution G A missense_variant E195K 583G>A COCA-CN 13 99992700 99992700 single base substitution G A missense_variant E230K 688G>A COCA-CN 13 99992700 99992700 single base substitution G A missense_variant E96K 286G>A EOPC-DE 13 100027570 100027570 single base substitution T G intron_variant EOPC-DE 13 99868016 99868016 single base substitution G A intron_variant EOPC-DE 13 99869740 99869740 single base substitution C T intron_variant EOPC-DE 13 99887557 99887557 single base substitution T C intron_variant EOPC-DE 13 99931780 99931780 single base substitution A T intron_variant ESAD-UK 13 100000332 100000332 single base substitution G A intron_variant ESAD-UK 13 100000655 100000655 single base substitution T C intron_variant ESAD-UK 13 100002607 100002607 single base substitution G T intron_variant ESAD-UK 13 100003401 100003401 deletion of <=200bp A - intron_variant ESAD-UK 13 100004009 100004009 single base substitution G A intron_variant ESAD-UK 13 100006925 100006925 single base substitution A T intron_variant ESAD-UK 13 100009665 100009665 single base substitution C T intron_variant ESAD-UK 13 100013689 100013689 single base substitution G T intron_variant ESAD-UK 13 100013778 100013778 single base substitution C G intron_variant ESAD-UK 13 100015267 100015267 single base substitution G C intron_variant ESAD-UK 13 100015267 100015267 single base substitution G C upstream_gene_variant ESAD-UK 13 100018857 100018857 single base substitution G A intron_variant ESAD-UK 13 100018857 100018857 single base substitution G A upstream_gene_variant ESAD-UK 13 100019051 100019051 single base substitution G A intron_variant ESAD-UK 13 100019051 100019051 single base substitution G A upstream_gene_variant ESAD-UK 13 100020937 100020937 single base substitution G A intron_variant ESAD-UK 13 100022338 100022338 single base substitution G C intron_variant ESAD-UK 13 100022859 100022859 single base substitution G A intron_variant ESAD-UK 13 100027683 100027683 single base substitution G A intron_variant ESAD-UK 13 100028580 100028580 single base substitution C T intron_variant ESAD-UK 13 100029802 100029802 single base substitution G A exon_variant ESAD-UK 13 100029802 100029802 single base substitution G A intron_variant ESAD-UK 13 100031925 100031925 single base substitution C G downstream_gene_variant ESAD-UK 13 100031925 100031925 single base substitution C G intron_variant ESAD-UK 13 100035796 100035796 single base substitution G A intron_variant ESAD-UK 13 100036032 100036032 single base substitution C T intron_variant ESAD-UK 13 100038055 100038055 single base substitution G A 3_prime_UTR_variant ESAD-UK 13 100038055 100038055 single base substitution G A downstream_gene_variant ESAD-UK 13 100038055 100038055 single base substitution G A exon_variant ESAD-UK 13 100040739 100040739 single base substitution A C downstream_gene_variant ESAD-UK 13 100042675 100042675 single base substitution C T downstream_gene_variant ESAD-UK 13 99849776 99849776 single base substitution C T upstream_gene_variant ESAD-UK 13 99850338 99850338 single base substitution G A upstream_gene_variant ESAD-UK 13 99851217 99851217 single base substitution A C upstream_gene_variant ESAD-UK 13 99851826 99851826 single base substitution G C upstream_gene_variant ESAD-UK 13 99852899 99852899 single base substitution G T upstream_gene_variant ESAD-UK 13 99852916 99852916 single base substitution T C upstream_gene_variant ESAD-UK 13 99853143 99853143 single base substitution G A 5_prime_UTR_variant ESAD-UK 13 99853143 99853143 single base substitution G A exon_variant ESAD-UK 13 99853143 99853143 single base substitution G A upstream_gene_variant ESAD-UK 13 99853225 99853225 single base substitution C T 5_prime_UTR_variant ESAD-UK 13 99853225 99853225 single base substitution C T intron_variant ESAD-UK 13 99853592 99853592 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 13 99853592 99853592 single base substitution C T intron_variant ESAD-UK 13 99854415 99854415 single base substitution A T intron_variant ESAD-UK 13 99854771 99854774 deletion of <=200bp AAAT - intron_variant ESAD-UK 13 99854913 99854913 single base substitution G T intron_variant ESAD-UK 13 99855128 99855128 single base substitution C G intron_variant ESAD-UK 13 99856951 99856951 deletion of <=200bp C - intron_variant ESAD-UK 13 99857860 99857860 single base substitution G T intron_variant ESAD-UK 13 99858882 99858882 single base substitution G A intron_variant ESAD-UK 13 99861195 99861195 single base substitution C A intron_variant ESAD-UK 13 99863844 99863844 single base substitution C T intron_variant ESAD-UK 13 99864345 99864345 single base substitution C T intron_variant ESAD-UK 13 99864958 99864958 single base substitution A G intron_variant ESAD-UK 13 99865944 99865944 insertion of <=200bp - T intron_variant ESAD-UK 13 99867218 99867218 single base substitution C T intron_variant ESAD-UK 13 99868647 99868647 single base substitution C T intron_variant ESAD-UK 13 99869914 99869914 single base substitution C A intron_variant ESAD-UK 13 99871112 99871112 single base substitution T A intron_variant ESAD-UK 13 99871564 99871564 single base substitution G A intron_variant ESAD-UK 13 99873210 99873210 single base substitution A T intron_variant ESAD-UK 13 99874434 99874434 single base substitution C T intron_variant ESAD-UK 13 99876410 99876410 single base substitution G A intron_variant ESAD-UK 13 99883281 99883281 single base substitution G A intron_variant ESAD-UK 13 99883864 99883864 single base substitution C T intron_variant ESAD-UK 13 99884653 99884653 single base substitution G T intron_variant ESAD-UK 13 99890207 99890207 single base substitution T A intron_variant ESAD-UK 13 99891958 99891958 single base substitution C T intron_variant ESAD-UK 13 99891958 99891958 single base substitution C T upstream_gene_variant ESAD-UK 13 99896034 99896034 single base substitution A G intron_variant ESAD-UK 13 99896034 99896034 single base substitution A G upstream_gene_variant ESAD-UK 13 99896809 99896809 single base substitution A G exon_variant ESAD-UK 13 99896809 99896809 single base substitution A G intron_variant ESAD-UK 13 99896809 99896809 single base substitution A G missense_variant D107G 320A>G ESAD-UK 13 99896809 99896809 single base substitution A G missense_variant D113G 338A>G ESAD-UK 13 99897082 99897086 deletion of <=200bp TTTAT - downstream_gene_variant ESAD-UK 13 99897082 99897086 deletion of <=200bp TTTAT - intron_variant ESAD-UK 13 99900986 99900986 single base substitution G T downstream_gene_variant ESAD-UK 13 99900986 99900986 single base substitution G T intron_variant ESAD-UK 13 99901349 99901349 single base substitution G C downstream_gene_variant ESAD-UK 13 99901349 99901349 single base substitution G C intron_variant ESAD-UK 13 99907594 99907594 single base substitution A G intron_variant ESAD-UK 13 99907671 99907671 single base substitution C T intron_variant ESAD-UK 13 99908193 99908193 single base substitution A G intron_variant ESAD-UK 13 99908521 99908521 single base substitution G A intron_variant ESAD-UK 13 99908755 99908755 single base substitution G A intron_variant ESAD-UK 13 99911190 99911190 single base substitution C T intron_variant ESAD-UK 13 99918394 99918394 single base substitution T A intron_variant ESAD-UK 13 99918510 99918510 single base substitution T C intron_variant ESAD-UK 13 99919577 99919577 single base substitution T C intron_variant ESAD-UK 13 99922400 99922400 single base substitution A G intron_variant ESAD-UK 13 99922604 99922604 single base substitution A G intron_variant ESAD-UK 13 99922932 99922932 single base substitution T A intron_variant ESAD-UK 13 99923684 99923684 single base substitution G T intron_variant ESAD-UK 13 99923690 99923690 single base substitution T G intron_variant ESAD-UK 13 99923789 99923789 single base substitution C T intron_variant ESAD-UK 13 99923868 99923868 single base substitution A T intron_variant ESAD-UK 13 99924621 99924621 single base substitution G A intron_variant ESAD-UK 13 99925129 99925129 single base substitution C T intron_variant ESAD-UK 13 99925411 99925411 deletion of <=200bp T - intron_variant ESAD-UK 13 99925867 99925867 single base substitution A G intron_variant ESAD-UK 13 99929399 99929399 single base substitution A T intron_variant ESAD-UK 13 99930509 99930509 single base substitution G T intron_variant ESAD-UK 13 99930864 99930864 single base substitution C G intron_variant ESAD-UK 13 99939422 99939422 single base substitution T G intron_variant ESAD-UK 13 99941934 99941934 single base substitution A G intron_variant ESAD-UK 13 99948135 99948135 single base substitution C G intron_variant ESAD-UK 13 99948364 99948364 single base substitution G T intron_variant ESAD-UK 13 99949501 99949501 single base substitution G A intron_variant ESAD-UK 13 99951204 99951204 single base substitution C T intron_variant ESAD-UK 13 99951704 99951715 deletion of <=200bp ACACACACACAC - intron_variant ESAD-UK 13 99953447 99953447 single base substitution G C intron_variant ESAD-UK 13 99953493 99953493 single base substitution G T intron_variant ESAD-UK 13 99957145 99957145 single base substitution G A intron_variant ESAD-UK 13 99957145 99957145 single base substitution G A upstream_gene_variant ESAD-UK 13 99958693 99958693 single base substitution C G intron_variant ESAD-UK 13 99958693 99958693 single base substitution C G upstream_gene_variant ESAD-UK 13 99959964 99959964 deletion of <=200bp A - intron_variant ESAD-UK 13 99959964 99959964 deletion of <=200bp A - upstream_gene_variant ESAD-UK 13 99960346 99960346 single base substitution T G intron_variant ESAD-UK 13 99960346 99960346 single base substitution T G upstream_gene_variant ESAD-UK 13 99961665 99961665 deletion of <=200bp T - intron_variant ESAD-UK 13 99961665 99961665 deletion of <=200bp T - upstream_gene_variant ESAD-UK 13 99962036 99962036 insertion of <=200bp - TG intron_variant ESAD-UK 13 99962036 99962036 insertion of <=200bp - TG upstream_gene_variant ESAD-UK 13 99962858 99962858 single base substitution C T intron_variant ESAD-UK 13 99962858 99962858 single base substitution C T upstream_gene_variant ESAD-UK 13 99964202 99964202 single base substitution C T intron_variant ESAD-UK 13 99964202 99964202 single base substitution C T upstream_gene_variant ESAD-UK 13 99964456 99964456 single base substitution T C intron_variant ESAD-UK 13 99964456 99964456 single base substitution T C upstream_gene_variant ESAD-UK 13 99966571 99966571 deletion of <=200bp T - downstream_gene_variant ESAD-UK 13 99966571 99966571 deletion of <=200bp T - intron_variant ESAD-UK 13 99966571 99966571 deletion of <=200bp T - upstream_gene_variant ESAD-UK 13 99967819 99967819 single base substitution C T downstream_gene_variant ESAD-UK 13 99967819 99967819 single base substitution C T intron_variant ESAD-UK 13 99970935 99970935 single base substitution C T downstream_gene_variant ESAD-UK 13 99970935 99970935 single base substitution C T intron_variant ESAD-UK 13 99972174 99972174 single base substitution C T intron_variant ESAD-UK 13 99973441 99973441 single base substitution A G intron_variant ESAD-UK 13 99975347 99975347 single base substitution G A intron_variant ESAD-UK 13 99979675 99979675 single base substitution C T intron_variant ESAD-UK 13 99980859 99980859 insertion of <=200bp - T intron_variant ESAD-UK 13 99982422 99982422 single base substitution T C intron_variant ESAD-UK 13 99982626 99982626 single base substitution T C intron_variant ESAD-UK 13 99984694 99984694 single base substitution A T intron_variant ESAD-UK 13 99984922 99984922 single base substitution G C intron_variant ESAD-UK 13 99985384 99985384 single base substitution A T intron_variant ESAD-UK 13 99986060 99986060 single base substitution A C intron_variant ESAD-UK 13 99989259 99989261 deletion of <=200bp TCA - intron_variant ESAD-UK 13 99990990 99990990 single base substitution A C intron_variant ESAD-UK 13 99992142 99992142 single base substitution T A intron_variant ESAD-UK 13 99992202 99992202 single base substitution C T intron_variant ESAD-UK 13 99994160 99994160 single base substitution A C downstream_gene_variant ESAD-UK 13 99994160 99994160 single base substitution A C intron_variant ESAD-UK 13 99996115 99996115 single base substitution G A downstream_gene_variant ESAD-UK 13 99996115 99996115 single base substitution G A intron_variant ESAD-UK 13 99996840 99996840 insertion of <=200bp - T downstream_gene_variant ESAD-UK 13 99996840 99996840 insertion of <=200bp - T intron_variant ESAD-UK 13 99997010 99997010 deletion of <=200bp C - downstream_gene_variant ESAD-UK 13 99997010 99997010 deletion of <=200bp C - intron_variant ESAD-UK 13 99997362 99997362 single base substitution A G downstream_gene_variant ESAD-UK 13 99997362 99997362 single base substitution A G intron_variant ESAD-UK 13 99998625 99998625 single base substitution T G intron_variant ESAD-UK 13 99999450 99999450 insertion of <=200bp - A intron_variant ESCA-CN 13 99947440 99947440 single base substitution C T intron_variant ESCA-CN 13 99947578 99947578 single base substitution G A intron_variant ESCA-CN 13 99966516 99966516 single base substitution C T downstream_gene_variant ESCA-CN 13 99966516 99966516 single base substitution C T intron_variant ESCA-CN 13 99966516 99966516 single base substitution C T upstream_gene_variant KIRC-US 13 99947650 99947652 deletion of <=200bp AAT - intron_variant KIRP-US 13 99890774 99890774 single base substitution T C exon_variant KIRP-US 13 99890774 99890774 single base substitution T C missense_variant C84R 250T>C KIRP-US 13 99890774 99890774 single base substitution T C missense_variant V42A 125T>C KIRP-US 13 99890774 99890774 single base substitution T C missense_variant V48A 143T>C KIRP-US 13 99907879 99907879 single base substitution G A intron_variant KIRP-US 13 99908051 99908051 single base substitution G C intron_variant LAML-KR 13 99848355 99848355 single base substitution T A upstream_gene_variant LAML-KR 13 99867946 99867946 single base substitution T G intron_variant LAML-KR 13 99867948 99867948 single base substitution T A intron_variant LAML-KR 13 99867950 99867950 single base substitution C A intron_variant LAML-KR 13 99885383 99885383 single base substitution C T intron_variant LAML-KR 13 99894684 99894684 single base substitution A G intron_variant LAML-KR 13 99894684 99894684 single base substitution A G upstream_gene_variant LAML-KR 13 99959800 99959800 single base substitution G T intron_variant LAML-KR 13 99959800 99959800 single base substitution G T upstream_gene_variant LAML-KR 13 99990325 99990325 single base substitution T A intron_variant LICA-CN 13 99947560 99947560 single base substitution A G intron_variant LICA-CN 13 99948362 99948362 single base substitution G T intron_variant LICA-FR 13 100012284 100012284 single base substitution T A intron_variant LICA-FR 13 100016071 100016071 single base substitution G T intron_variant LICA-FR 13 100016071 100016071 single base substitution G T upstream_gene_variant LICA-FR 13 100016410 100016410 deletion of <=200bp G - intron_variant LICA-FR 13 100016410 100016410 deletion of <=200bp G - upstream_gene_variant LICA-FR 13 100030648 100030648 single base substitution G C downstream_gene_variant LICA-FR 13 100030648 100030648 single base substitution G C intron_variant LICA-FR 13 99888390 99888390 single base substitution T C intron_variant LICA-FR 13 99889509 99889509 insertion of <=200bp - TA intron_variant LICA-FR 13 99897859 99897859 single base substitution G A downstream_gene_variant LICA-FR 13 99897859 99897859 single base substitution G A intron_variant LICA-FR 13 99907540 99907540 deletion of <=200bp A - intron_variant LICA-FR 13 99935965 99935965 single base substitution A C intron_variant LICA-FR 13 99939898 99939898 deletion of <=200bp T - intron_variant LICA-FR 13 99956386 99956386 single base substitution C T intron_variant LICA-FR 13 99956386 99956386 single base substitution C T upstream_gene_variant LICA-FR 13 99974611 99974612 deletion of <=200bp AC - intron_variant LIHC-US 13 100020041 100020041 single base substitution G A exon_variant LIHC-US 13 100020041 100020041 single base substitution G A missense_variant G136R 406G>A LIHC-US 13 100020041 100020041 single base substitution G A missense_variant G235R 703G>A LIHC-US 13 100020041 100020041 single base substitution G A missense_variant G270R 808G>A LIHC-US 13 100020041 100020041 single base substitution G A splice_region_variant LIHC-US 13 99853763 99853763 single base substitution G A exon_variant LIHC-US 13 99853763 99853763 single base substitution G A intron_variant LIHC-US 13 99853763 99853763 single base substitution G A missense_variant G33E 98G>A LINC-JP 13 100001982 100001982 single base substitution A G intron_variant LINC-JP 13 100004923 100004923 single base substitution G T intron_variant LINC-JP 13 100012256 100012256 single base substitution G C intron_variant LINC-JP 13 100025164 100025164 single base substitution C T intron_variant LINC-JP 13 100028250 100028250 single base substitution A G intron_variant LINC-JP 13 100032345 100032345 single base substitution C T downstream_gene_variant LINC-JP 13 100032345 100032345 single base substitution C T intron_variant LINC-JP 13 99852855 99852855 single base substitution G T upstream_gene_variant LINC-JP 13 99853408 99853408 single base substitution C A 5_prime_UTR_variant LINC-JP 13 99853408 99853408 single base substitution C A intron_variant LINC-JP 13 99853408 99853408 single base substitution C A missense_variant R7S 19C>A LINC-JP 13 99869273 99869273 single base substitution C G intron_variant LINC-JP 13 99886753 99886753 single base substitution C T intron_variant LINC-JP 13 99895107 99895107 single base substitution C T intron_variant LINC-JP 13 99895107 99895107 single base substitution C T upstream_gene_variant LINC-JP 13 99896969 99896969 single base substitution A G downstream_gene_variant LINC-JP 13 99896969 99896969 single base substitution A G intron_variant LINC-JP 13 99901477 99901477 single base substitution G T downstream_gene_variant LINC-JP 13 99901477 99901477 single base substitution G T intron_variant LINC-JP 13 99904778 99904778 single base substitution T C intron_variant LINC-JP 13 99904837 99904837 single base substitution T G intron_variant LINC-JP 13 99907706 99907706 single base substitution C T intron_variant LINC-JP 13 99908768 99908768 single base substitution C A intron_variant LINC-JP 13 99920619 99920619 single base substitution C T intron_variant LINC-JP 13 99929169 99929169 single base substitution G T intron_variant LINC-JP 13 99930436 99930436 single base substitution A G intron_variant LINC-JP 13 99947810 99947810 single base substitution A T intron_variant LINC-JP 13 99948012 99948012 single base substitution A G intron_variant LINC-JP 13 99948383 99948383 single base substitution G T intron_variant LINC-JP 13 99948506 99948506 single base substitution A G intron_variant LINC-JP 13 99958163 99958163 single base substitution C T intron_variant LINC-JP 13 99958163 99958163 single base substitution C T upstream_gene_variant LINC-JP 13 99964985 99964985 single base substitution A G intron_variant LINC-JP 13 99964985 99964985 single base substitution A G upstream_gene_variant LINC-JP 13 99967308 99967308 single base substitution C G downstream_gene_variant LINC-JP 13 99967308 99967308 single base substitution C G intron_variant LINC-JP 13 99982735 99982735 single base substitution T A intron_variant LINC-JP 13 99987529 99987529 single base substitution A G intron_variant LIRI-JP 13 100000267 100000267 single base substitution C T intron_variant LIRI-JP 13 100003480 100003480 single base substitution T G intron_variant LIRI-JP 13 100004651 100004651 single base substitution A G intron_variant LIRI-JP 13 100006759 100006759 single base substitution A C intron_variant LIRI-JP 13 100012020 100012020 single base substitution G T intron_variant LIRI-JP 13 100012161 100012161 insertion of <=200bp - C intron_variant LIRI-JP 13 100012867 100012867 single base substitution C T intron_variant LIRI-JP 13 100014440 100014440 single base substitution A G intron_variant LIRI-JP 13 100015106 100015106 single base substitution T G intron_variant LIRI-JP 13 100015106 100015106 single base substitution T G upstream_gene_variant LIRI-JP 13 100016818 100016818 single base substitution A G intron_variant LIRI-JP 13 100016818 100016818 single base substitution A G upstream_gene_variant LIRI-JP 13 100017783 100017783 single base substitution A G intron_variant LIRI-JP 13 100017783 100017783 single base substitution A G upstream_gene_variant LIRI-JP 13 100020040 100020040 single base substitution G T splice_acceptor_variant LIRI-JP 13 100020040 100020040 single base substitution G T upstream_gene_variant LIRI-JP 13 100020807 100020807 single base substitution T C intron_variant LIRI-JP 13 100022633 100022633 single base substitution A G intron_variant LIRI-JP 13 100022645 100022645 single base substitution A G intron_variant LIRI-JP 13 100023073 100023073 single base substitution T C intron_variant LIRI-JP 13 100023804 100023804 single base substitution C G intron_variant LIRI-JP 13 100024684 100024684 single base substitution C T intron_variant LIRI-JP 13 100025254 100025254 single base substitution G T intron_variant LIRI-JP 13 100025340 100025340 single base substitution A G intron_variant LIRI-JP 13 100031432 100031432 single base substitution T G downstream_gene_variant LIRI-JP 13 100031432 100031432 single base substitution T G intron_variant LIRI-JP 13 100031863 100031863 single base substitution A C downstream_gene_variant LIRI-JP 13 100031863 100031863 single base substitution A C intron_variant LIRI-JP 13 100032154 100032154 single base substitution A G downstream_gene_variant LIRI-JP 13 100032154 100032154 single base substitution A G intron_variant LIRI-JP 13 100032489 100032489 single base substitution G A downstream_gene_variant LIRI-JP 13 100032489 100032489 single base substitution G A intron_variant LIRI-JP 13 100033348 100033348 single base substitution A G downstream_gene_variant LIRI-JP 13 100033348 100033348 single base substitution A G intron_variant LIRI-JP 13 100033652 100033652 single base substitution A G downstream_gene_variant LIRI-JP 13 100033652 100033652 single base substitution A G intron_variant LIRI-JP 13 100034346 100034346 single base substitution A G downstream_gene_variant LIRI-JP 13 100034346 100034346 single base substitution A G intron_variant LIRI-JP 13 100034511 100034511 single base substitution G A downstream_gene_variant LIRI-JP 13 100034511 100034511 single base substitution G A intron_variant LIRI-JP 13 100034566 100034566 single base substitution C T downstream_gene_variant LIRI-JP 13 100034566 100034566 single base substitution C T intron_variant LIRI-JP 13 100034761 100034761 single base substitution A T downstream_gene_variant LIRI-JP 13 100034761 100034761 single base substitution A T intron_variant LIRI-JP 13 100037244 100037244 single base substitution T C intron_variant LIRI-JP 13 100041464 100041464 single base substitution A G downstream_gene_variant LIRI-JP 13 100041511 100041511 single base substitution C A downstream_gene_variant LIRI-JP 13 99849178 99849178 single base substitution T C upstream_gene_variant LIRI-JP 13 99849392 99849392 single base substitution G C upstream_gene_variant LIRI-JP 13 99849753 99849753 single base substitution C G upstream_gene_variant LIRI-JP 13 99850427 99850427 single base substitution T G upstream_gene_variant LIRI-JP 13 99854225 99854225 single base substitution G T intron_variant LIRI-JP 13 99856905 99856905 single base substitution G T intron_variant LIRI-JP 13 99856993 99856993 single base substitution G T intron_variant LIRI-JP 13 99857078 99857078 single base substitution C T intron_variant LIRI-JP 13 99857433 99857433 single base substitution G A intron_variant LIRI-JP 13 99857622 99857622 single base substitution A G intron_variant LIRI-JP 13 99859990 99859990 insertion of <=200bp - T intron_variant LIRI-JP 13 99860916 99860916 single base substitution T G intron_variant LIRI-JP 13 99864498 99864498 single base substitution T G intron_variant LIRI-JP 13 99865639 99865639 single base substitution A T intron_variant LIRI-JP 13 99865857 99865857 single base substitution G T intron_variant LIRI-JP 13 99867074 99867074 single base substitution C T intron_variant LIRI-JP 13 99868687 99868687 single base substitution T A intron_variant LIRI-JP 13 99871144 99871144 single base substitution A G intron_variant LIRI-JP 13 99871376 99871376 single base substitution A T intron_variant LIRI-JP 13 99882536 99882536 single base substitution G C intron_variant LIRI-JP 13 99882735 99882735 single base substitution A G intron_variant LIRI-JP 13 99882933 99882933 single base substitution G A intron_variant LIRI-JP 13 99886025 99886025 single base substitution A C intron_variant LIRI-JP 13 99887091 99887091 single base substitution A G intron_variant LIRI-JP 13 99888935 99888935 single base substitution C T intron_variant LIRI-JP 13 99890886 99890886 single base substitution T A intron_variant LIRI-JP 13 99892854 99892854 single base substitution T C intron_variant LIRI-JP 13 99892854 99892854 single base substitution T C upstream_gene_variant LIRI-JP 13 99896590 99896590 single base substitution A G intron_variant LIRI-JP 13 99896590 99896590 single base substitution A G upstream_gene_variant LIRI-JP 13 99897057 99897068 deletion of <=200bp TCAATTTTATAT - downstream_gene_variant LIRI-JP 13 99897057 99897068 deletion of <=200bp TCAATTTTATAT - intron_variant LIRI-JP 13 99900207 99900207 single base substitution G C downstream_gene_variant LIRI-JP 13 99900207 99900207 single base substitution G C intron_variant LIRI-JP 13 99901556 99901556 single base substitution T A downstream_gene_variant LIRI-JP 13 99901556 99901556 single base substitution T A intron_variant LIRI-JP 13 99902151 99902151 single base substitution G T intron_variant LIRI-JP 13 99905422 99905422 single base substitution T A intron_variant LIRI-JP 13 99907126 99907126 single base substitution A T intron_variant LIRI-JP 13 99907918 99907918 single base substitution A G intron_variant LIRI-JP 13 99908793 99908793 single base substitution G T intron_variant LIRI-JP 13 99908851 99908851 single base substitution T C intron_variant LIRI-JP 13 99909224 99909224 single base substitution A G intron_variant LIRI-JP 13 99915027 99915027 single base substitution G T intron_variant LIRI-JP 13 99916056 99916056 single base substitution A G intron_variant LIRI-JP 13 99916636 99916636 single base substitution G A intron_variant LIRI-JP 13 99916785 99916785 single base substitution C T intron_variant LIRI-JP 13 99916868 99916868 single base substitution C A intron_variant LIRI-JP 13 99918217 99918217 single base substitution A G intron_variant LIRI-JP 13 99921544 99921544 single base substitution T A intron_variant LIRI-JP 13 99921694 99921694 single base substitution T A intron_variant LIRI-JP 13 99922875 99922875 single base substitution A T intron_variant LIRI-JP 13 99924558 99924558 single base substitution G A intron_variant LIRI-JP 13 99925009 99925009 single base substitution C T intron_variant LIRI-JP 13 99925658 99925658 single base substitution T C intron_variant LIRI-JP 13 99930108 99930108 single base substitution T A intron_variant LIRI-JP 13 99932249 99932249 single base substitution T C intron_variant LIRI-JP 13 99935704 99935704 single base substitution C G intron_variant LIRI-JP 13 99936611 99936611 single base substitution C T intron_variant LIRI-JP 13 99937542 99937542 single base substitution T G intron_variant LIRI-JP 13 99938761 99938761 single base substitution T A intron_variant LIRI-JP 13 99946586 99946586 single base substitution C T intron_variant LIRI-JP 13 99947116 99947116 single base substitution C A intron_variant LIRI-JP 13 99947917 99947917 single base substitution A G intron_variant LIRI-JP 13 99948635 99948635 single base substitution T G intron_variant LIRI-JP 13 99949646 99949646 single base substitution A G intron_variant LIRI-JP 13 99951122 99951122 single base substitution G A intron_variant LIRI-JP 13 99952511 99952511 single base substitution G A intron_variant LIRI-JP 13 99952667 99952667 single base substitution A G intron_variant LIRI-JP 13 99952809 99952809 single base substitution A G intron_variant LIRI-JP 13 99960842 99960842 single base substitution G A intron_variant LIRI-JP 13 99960842 99960842 single base substitution G A upstream_gene_variant LIRI-JP 13 99962686 99962702 deletion of <=200bp AGTTCTTCACAGTATGA - intron_variant LIRI-JP 13 99962686 99962702 deletion of <=200bp AGTTCTTCACAGTATGA - upstream_gene_variant LIRI-JP 13 99964589 99964589 single base substitution C T intron_variant LIRI-JP 13 99964589 99964589 single base substitution C T upstream_gene_variant LIRI-JP 13 99965256 99965256 single base substitution G A exon_variant LIRI-JP 13 99965256 99965256 single base substitution G A intron_variant LIRI-JP 13 99965256 99965256 single base substitution G A upstream_gene_variant LIRI-JP 13 99966727 99966727 single base substitution A G downstream_gene_variant LIRI-JP 13 99966727 99966727 single base substitution A G intron_variant LIRI-JP 13 99966727 99966727 single base substitution A G upstream_gene_variant LIRI-JP 13 99966826 99966826 single base substitution A G downstream_gene_variant LIRI-JP 13 99966826 99966826 single base substitution A G intron_variant LIRI-JP 13 99966826 99966826 single base substitution A G upstream_gene_variant LIRI-JP 13 99969381 99969381 single base substitution T G downstream_gene_variant LIRI-JP 13 99969381 99969381 single base substitution T G intron_variant LIRI-JP 13 99971600 99971600 single base substitution A G intron_variant LIRI-JP 13 99971830 99971830 single base substitution G A intron_variant LIRI-JP 13 99973159 99973159 single base substitution A G intron_variant LIRI-JP 13 99975344 99975344 single base substitution G A intron_variant LIRI-JP 13 99975572 99975572 single base substitution T A intron_variant LIRI-JP 13 99976836 99976836 single base substitution A G intron_variant LIRI-JP 13 99978355 99978355 single base substitution A G intron_variant LIRI-JP 13 99978796 99978796 single base substitution A G intron_variant LIRI-JP 13 99979212 99979212 single base substitution A T intron_variant LIRI-JP 13 99981972 99981972 single base substitution T A intron_variant LIRI-JP 13 99983833 99983833 single base substitution A G intron_variant LIRI-JP 13 99983844 99983844 single base substitution A G intron_variant LIRI-JP 13 99985364 99985365 deletion of <=200bp AG - intron_variant LIRI-JP 13 99985830 99985830 single base substitution C G intron_variant LIRI-JP 13 99986581 99986581 single base substitution A G intron_variant LIRI-JP 13 99988726 99988726 single base substitution T G intron_variant LIRI-JP 13 99989325 99989325 single base substitution A G intron_variant LIRI-JP 13 99989509 99989509 single base substitution T C intron_variant LIRI-JP 13 99991475 99991475 single base substitution C G intron_variant LIRI-JP 13 99996308 99996308 single base substitution A T downstream_gene_variant LIRI-JP 13 99996308 99996308 single base substitution A T intron_variant LIRI-JP 13 99997723 99997723 single base substitution G A downstream_gene_variant LIRI-JP 13 99997723 99997723 single base substitution G A intron_variant LIRI-JP 13 99997919 99997919 single base substitution A G intron_variant LUSC-KR 13 100006043 100006043 single base substitution G C intron_variant LUSC-KR 13 100011133 100011133 single base substitution C T intron_variant LUSC-KR 13 100021140 100021140 single base substitution C T intron_variant LUSC-KR 13 100025724 100025724 single base substitution G T intron_variant LUSC-KR 13 100031667 100031667 single base substitution A G downstream_gene_variant LUSC-KR 13 100031667 100031667 single base substitution A G intron_variant LUSC-KR 13 100035689 100035689 single base substitution G T intron_variant LUSC-KR 13 100037785 100037785 single base substitution A T 3_prime_UTR_variant LUSC-KR 13 100037785 100037785 single base substitution A T downstream_gene_variant LUSC-KR 13 100037785 100037785 single base substitution A T exon_variant LUSC-KR 13 100038233 100038233 single base substitution A G 3_prime_UTR_variant LUSC-KR 13 100038233 100038233 single base substitution A G downstream_gene_variant LUSC-KR 13 100038233 100038233 single base substitution A G exon_variant LUSC-KR 13 100038271 100038271 single base substitution A T 3_prime_UTR_variant LUSC-KR 13 100038271 100038271 single base substitution A T downstream_gene_variant LUSC-KR 13 100038271 100038271 single base substitution A T exon_variant LUSC-KR 13 100038336 100038336 single base substitution T C 3_prime_UTR_variant LUSC-KR 13 100038336 100038336 single base substitution T C downstream_gene_variant LUSC-KR 13 100038336 100038336 single base substitution T C exon_variant LUSC-KR 13 99852753 99852753 single base substitution A G upstream_gene_variant LUSC-KR 13 99852952 99852952 single base substitution C T upstream_gene_variant LUSC-KR 13 99855577 99855577 single base substitution A G intron_variant LUSC-KR 13 99867329 99867329 single base substitution C A intron_variant LUSC-KR 13 99868850 99868850 single base substitution G A intron_variant LUSC-KR 13 99879487 99879487 single base substitution C T intron_variant LUSC-KR 13 99888171 99888171 single base substitution G T intron_variant LUSC-KR 13 99890353 99890353 single base substitution G A intron_variant LUSC-KR 13 99894388 99894388 single base substitution C T intron_variant LUSC-KR 13 99894388 99894388 single base substitution C T upstream_gene_variant LUSC-KR 13 99894610 99894610 single base substitution G A intron_variant LUSC-KR 13 99894610 99894610 single base substitution G A upstream_gene_variant LUSC-KR 13 99894655 99894655 single base substitution C T intron_variant LUSC-KR 13 99894655 99894655 single base substitution C T upstream_gene_variant LUSC-KR 13 99894670 99894670 single base substitution G A intron_variant LUSC-KR 13 99894670 99894670 single base substitution G A upstream_gene_variant LUSC-KR 13 99900692 99900692 single base substitution C T downstream_gene_variant LUSC-KR 13 99900692 99900692 single base substitution C T intron_variant LUSC-KR 13 99903231 99903231 single base substitution C T intron_variant LUSC-KR 13 99905817 99905817 single base substitution G C intron_variant LUSC-KR 13 99910487 99910487 single base substitution G T intron_variant LUSC-KR 13 99917462 99917462 single base substitution G C intron_variant LUSC-KR 13 99922698 99922698 single base substitution C T intron_variant LUSC-KR 13 99926095 99926095 single base substitution C A intron_variant LUSC-KR 13 99929373 99929373 single base substitution C G intron_variant LUSC-KR 13 99935201 99935201 single base substitution G A intron_variant LUSC-KR 13 99941794 99941794 single base substitution G A intron_variant LUSC-KR 13 99945258 99945258 single base substitution G C intron_variant LUSC-KR 13 99947209 99947209 single base substitution A T intron_variant LUSC-KR 13 99966605 99966605 single base substitution A G downstream_gene_variant LUSC-KR 13 99966605 99966605 single base substitution A G intron_variant LUSC-KR 13 99966605 99966605 single base substitution A G upstream_gene_variant LUSC-KR 13 99978957 99978957 single base substitution G T intron_variant LUSC-KR 13 99992487 99992487 single base substitution T C intron_variant LUSC-US 13 100008450 100008450 single base substitution C A intron_variant LUSC-US 13 100020152 100020152 single base substitution G A exon_variant LUSC-US 13 100020152 100020152 single base substitution G A missense_variant E173K 517G>A LUSC-US 13 100020152 100020152 single base substitution G A missense_variant E272K 814G>A LUSC-US 13 100020152 100020152 single base substitution G A missense_variant E307K 919G>A LUSC-US 13 99907182 99907182 single base substitution G C intron_variant LUSC-US 13 99907653 99907653 single base substitution C G intron_variant LUSC-US 13 99908124 99908124 single base substitution C G intron_variant LUSC-US 13 99948125 99948125 single base substitution G T intron_variant LUSC-US 13 99948126 99948126 single base substitution C T intron_variant LUSC-US 13 99948238 99948238 single base substitution G A intron_variant MALY-DE 13 100001402 100001402 single base substitution T C intron_variant MALY-DE 13 100003401 100003401 insertion of <=200bp - A intron_variant MALY-DE 13 100006303 100006303 single base substitution G A intron_variant MALY-DE 13 100007535 100007535 single base substitution G A intron_variant MALY-DE 13 100012978 100012978 single base substitution C T intron_variant MALY-DE 13 100034458 100034458 single base substitution A G downstream_gene_variant MALY-DE 13 100034458 100034458 single base substitution A G intron_variant MALY-DE 13 100035407 100035408 deletion of <=200bp TG - intron_variant MALY-DE 13 100040424 100040424 single base substitution G T downstream_gene_variant MALY-DE 13 99851865 99851865 single base substitution A G upstream_gene_variant MALY-DE 13 99852619 99852619 single base substitution C G upstream_gene_variant MALY-DE 13 99861143 99861143 single base substitution T G intron_variant MALY-DE 13 99868802 99868802 single base substitution G A intron_variant MALY-DE 13 99876413 99876413 single base substitution T G intron_variant MALY-DE 13 99878331 99878331 single base substitution A G intron_variant MALY-DE 13 99887763 99887763 single base substitution T C intron_variant MALY-DE 13 99896460 99896460 single base substitution C A intron_variant MALY-DE 13 99896460 99896460 single base substitution C A upstream_gene_variant MALY-DE 13 99903877 99903877 single base substitution A C intron_variant MALY-DE 13 99908544 99908544 single base substitution T G intron_variant MALY-DE 13 99917291 99917291 single base substitution T A intron_variant MALY-DE 13 99919296 99919296 single base substitution T C intron_variant MALY-DE 13 99924306 99924306 single base substitution A T intron_variant MALY-DE 13 99928792 99928792 single base substitution C T intron_variant MALY-DE 13 99933504 99933504 single base substitution T G intron_variant MALY-DE 13 99933905 99933905 single base substitution G A intron_variant MALY-DE 13 99958556 99958556 single base substitution T C intron_variant MALY-DE 13 99958556 99958556 single base substitution T C upstream_gene_variant MALY-DE 13 99960016 99960016 single base substitution A G intron_variant MALY-DE 13 99960016 99960016 single base substitution A G upstream_gene_variant MALY-DE 13 99961607 99961607 single base substitution C G intron_variant MALY-DE 13 99961607 99961607 single base substitution C G upstream_gene_variant MALY-DE 13 99962277 99962277 single base substitution T G intron_variant MALY-DE 13 99962277 99962277 single base substitution T G upstream_gene_variant MALY-DE 13 99965941 99965941 single base substitution C T intron_variant MALY-DE 13 99965941 99965941 single base substitution C T upstream_gene_variant MALY-DE 13 99979354 99979355 deletion of <=200bp CT - intron_variant MALY-DE 13 99985109 99985109 single base substitution T C intron_variant MALY-DE 13 99985174 99985174 single base substitution A G intron_variant MELA-AU 13 100001246 100001246 single base substitution C T intron_variant MELA-AU 13 100001283 100001283 single base substitution C T intron_variant MELA-AU 13 100001434 100001434 single base substitution T C intron_variant MELA-AU 13 100002040 100002040 single base substitution G C intron_variant MELA-AU 13 100002447 100002447 single base substitution A G intron_variant MELA-AU 13 100002506 100002506 single base substitution C T intron_variant MELA-AU 13 100002518 100002518 single base substitution C T intron_variant MELA-AU 13 100002871 100002871 single base substitution C T intron_variant MELA-AU 13 100003686 100003686 single base substitution C T intron_variant MELA-AU 13 100003717 100003717 single base substitution T A intron_variant MELA-AU 13 100004541 100004541 single base substitution G A intron_variant MELA-AU 13 100004757 100004757 single base substitution G A intron_variant MELA-AU 13 100005697 100005697 single base substitution C T intron_variant MELA-AU 13 100006905 100006905 single base substitution G A intron_variant MELA-AU 13 100007502 100007502 single base substitution A T intron_variant MELA-AU 13 100008177 100008177 single base substitution C T intron_variant MELA-AU 13 100008207 100008207 single base substitution T C intron_variant MELA-AU 13 100008220 100008221 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 13 100008227 100008227 single base substitution C T intron_variant MELA-AU 13 100009202 100009202 single base substitution C T intron_variant MELA-AU 13 100010034 100010034 single base substitution T C intron_variant MELA-AU 13 100010142 100010142 single base substitution C T intron_variant MELA-AU 13 100010143 100010143 single base substitution A T intron_variant MELA-AU 13 100010149 100010149 single base substitution T C intron_variant MELA-AU 13 100010244 100010244 single base substitution C T intron_variant MELA-AU 13 100010538 100010538 single base substitution C T intron_variant MELA-AU 13 100011207 100011207 single base substitution G A intron_variant MELA-AU 13 100011323 100011323 single base substitution G A intron_variant MELA-AU 13 100011586 100011586 single base substitution G A intron_variant MELA-AU 13 100012457 100012457 single base substitution C T intron_variant MELA-AU 13 100012542 100012542 single base substitution C T intron_variant MELA-AU 13 100012659 100012659 single base substitution T C intron_variant MELA-AU 13 100012846 100012846 single base substitution C T intron_variant MELA-AU 13 100012962 100012962 single base substitution C T intron_variant MELA-AU 13 100013568 100013568 single base substitution C T intron_variant MELA-AU 13 100013636 100013636 single base substitution G A intron_variant MELA-AU 13 100013786 100013786 single base substitution G A intron_variant MELA-AU 13 100014116 100014116 single base substitution T C intron_variant MELA-AU 13 100014290 100014290 single base substitution C T intron_variant MELA-AU 13 100014822 100014822 single base substitution A T intron_variant MELA-AU 13 100015065 100015065 single base substitution T C intron_variant MELA-AU 13 100015065 100015065 single base substitution T C upstream_gene_variant MELA-AU 13 100016010 100016010 single base substitution C T intron_variant MELA-AU 13 100016010 100016010 single base substitution C T upstream_gene_variant MELA-AU 13 100016539 100016539 single base substitution C A intron_variant MELA-AU 13 100016539 100016539 single base substitution C A upstream_gene_variant MELA-AU 13 100016676 100016676 single base substitution G A intron_variant MELA-AU 13 100016676 100016676 single base substitution G A upstream_gene_variant MELA-AU 13 100016790 100016790 single base substitution G A intron_variant MELA-AU 13 100016790 100016790 single base substitution G A upstream_gene_variant MELA-AU 13 100016933 100016933 single base substitution C T intron_variant MELA-AU 13 100016933 100016933 single base substitution C T upstream_gene_variant MELA-AU 13 100016988 100016988 single base substitution T A intron_variant MELA-AU 13 100016988 100016988 single base substitution T A upstream_gene_variant MELA-AU 13 100017128 100017128 single base substitution C T intron_variant MELA-AU 13 100017128 100017128 single base substitution C T upstream_gene_variant MELA-AU 13 100017174 100017174 single base substitution C T intron_variant MELA-AU 13 100017174 100017174 single base substitution C T upstream_gene_variant MELA-AU 13 100017524 100017524 single base substitution T C intron_variant MELA-AU 13 100017524 100017524 single base substitution T C upstream_gene_variant MELA-AU 13 100018817 100018817 single base substitution T C intron_variant MELA-AU 13 100018817 100018817 single base substitution T C upstream_gene_variant MELA-AU 13 100019050 100019050 single base substitution C T intron_variant MELA-AU 13 100019050 100019050 single base substitution C T upstream_gene_variant MELA-AU 13 100019262 100019262 single base substitution T G intron_variant MELA-AU 13 100019262 100019262 single base substitution T G upstream_gene_variant MELA-AU 13 100019319 100019319 single base substitution T G intron_variant MELA-AU 13 100019319 100019319 single base substitution T G upstream_gene_variant MELA-AU 13 100019647 100019647 single base substitution C T intron_variant MELA-AU 13 100019647 100019647 single base substitution C T upstream_gene_variant MELA-AU 13 100020003 100020003 single base substitution C T intron_variant MELA-AU 13 100020003 100020003 single base substitution C T upstream_gene_variant MELA-AU 13 100020075 100020075 single base substitution C T exon_variant MELA-AU 13 100020075 100020075 single base substitution C T missense_variant P147L 440C>T MELA-AU 13 100020075 100020075 single base substitution C T missense_variant P246L 737C>T MELA-AU 13 100020075 100020075 single base substitution C T missense_variant P281L 842C>T MELA-AU 13 100020197 100020197 single base substitution C T intron_variant MELA-AU 13 100020246 100020246 single base substitution C T intron_variant MELA-AU 13 100021121 100021121 single base substitution C T intron_variant MELA-AU 13 100021612 100021612 single base substitution C T intron_variant MELA-AU 13 100022925 100022925 single base substitution C T intron_variant MELA-AU 13 100023547 100023547 single base substitution G A intron_variant MELA-AU 13 100023886 100023886 single base substitution T C intron_variant MELA-AU 13 100025193 100025193 single base substitution C T intron_variant MELA-AU 13 100025678 100025678 single base substitution C T intron_variant MELA-AU 13 100026077 100026077 single base substitution G A intron_variant MELA-AU 13 100026232 100026232 single base substitution T G intron_variant MELA-AU 13 100026381 100026381 single base substitution C T intron_variant MELA-AU 13 100026507 100026507 single base substitution C T intron_variant MELA-AU 13 100027557 100027557 single base substitution C T intron_variant MELA-AU 13 100027695 100027695 single base substitution C T intron_variant MELA-AU 13 100027987 100027987 single base substitution G A intron_variant MELA-AU 13 100028054 100028054 single base substitution C T intron_variant MELA-AU 13 100028152 100028152 single base substitution G A intron_variant MELA-AU 13 100028158 100028158 single base substitution A G intron_variant MELA-AU 13 100028341 100028341 single base substitution A G intron_variant MELA-AU 13 100028377 100028377 single base substitution C T intron_variant MELA-AU 13 100028582 100028582 single base substitution C T intron_variant MELA-AU 13 100028674 100028674 single base substitution C T intron_variant MELA-AU 13 100028675 100028675 single base substitution C T intron_variant MELA-AU 13 100028724 100028724 single base substitution C T intron_variant MELA-AU 13 100028728 100028728 single base substitution C T intron_variant MELA-AU 13 100028996 100028997 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 100030178 100030178 single base substitution C T downstream_gene_variant MELA-AU 13 100030178 100030178 single base substitution C T intron_variant MELA-AU 13 100030439 100030439 single base substitution C T downstream_gene_variant MELA-AU 13 100030439 100030439 single base substitution C T intron_variant MELA-AU 13 100030469 100030469 single base substitution C T downstream_gene_variant MELA-AU 13 100030469 100030469 single base substitution C T intron_variant MELA-AU 13 100030476 100030476 single base substitution C T downstream_gene_variant MELA-AU 13 100030476 100030476 single base substitution C T intron_variant MELA-AU 13 100030529 100030529 single base substitution C T downstream_gene_variant MELA-AU 13 100030529 100030529 single base substitution C T intron_variant MELA-AU 13 100030691 100030691 single base substitution G A downstream_gene_variant MELA-AU 13 100030691 100030691 single base substitution G A intron_variant MELA-AU 13 100030749 100030749 single base substitution C T downstream_gene_variant MELA-AU 13 100030749 100030749 single base substitution C T intron_variant MELA-AU 13 100030927 100030927 single base substitution C T downstream_gene_variant MELA-AU 13 100030927 100030927 single base substitution C T intron_variant MELA-AU 13 100032192 100032192 single base substitution G A downstream_gene_variant MELA-AU 13 100032192 100032192 single base substitution G A intron_variant MELA-AU 13 100032534 100032534 single base substitution C T downstream_gene_variant MELA-AU 13 100032534 100032534 single base substitution C T intron_variant MELA-AU 13 100032601 100032601 single base substitution C T downstream_gene_variant MELA-AU 13 100032601 100032601 single base substitution C T intron_variant MELA-AU 13 100033434 100033434 single base substitution C T downstream_gene_variant MELA-AU 13 100033434 100033434 single base substitution C T intron_variant MELA-AU 13 100034341 100034341 single base substitution C T downstream_gene_variant MELA-AU 13 100034341 100034341 single base substitution C T intron_variant MELA-AU 13 100034415 100034415 single base substitution T C downstream_gene_variant MELA-AU 13 100034415 100034415 single base substitution T C intron_variant MELA-AU 13 100035014 100035014 single base substitution C T intron_variant MELA-AU 13 100035019 100035019 single base substitution G A intron_variant MELA-AU 13 100035207 100035208 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 100035275 100035275 single base substitution G A intron_variant MELA-AU 13 100035616 100035616 single base substitution T A intron_variant MELA-AU 13 100035695 100035695 single base substitution A G intron_variant MELA-AU 13 100035714 100035714 single base substitution C T intron_variant MELA-AU 13 100036016 100036016 single base substitution C T intron_variant MELA-AU 13 100036211 100036211 single base substitution C T intron_variant MELA-AU 13 100037704 100037704 single base substitution G A 3_prime_UTR_variant MELA-AU 13 100037704 100037704 single base substitution G A downstream_gene_variant MELA-AU 13 100037704 100037704 single base substitution G A exon_variant MELA-AU 13 100038343 100038343 single base substitution A G 3_prime_UTR_variant MELA-AU 13 100038343 100038343 single base substitution A G downstream_gene_variant MELA-AU 13 100038343 100038343 single base substitution A G exon_variant MELA-AU 13 100038807 100038807 single base substitution G A downstream_gene_variant MELA-AU 13 100039481 100039481 single base substitution T C downstream_gene_variant MELA-AU 13 100039483 100039483 single base substitution G T downstream_gene_variant MELA-AU 13 100040021 100040021 single base substitution C T downstream_gene_variant MELA-AU 13 100040550 100040550 single base substitution G A downstream_gene_variant MELA-AU 13 100041915 100041915 single base substitution G A downstream_gene_variant MELA-AU 13 100042075 100042075 single base substitution C T downstream_gene_variant MELA-AU 13 100042289 100042289 single base substitution C T downstream_gene_variant MELA-AU 13 100042374 100042374 single base substitution C T downstream_gene_variant MELA-AU 13 100042472 100042472 single base substitution T G downstream_gene_variant MELA-AU 13 100042517 100042517 single base substitution G A downstream_gene_variant MELA-AU 13 100042925 100042925 single base substitution C T downstream_gene_variant MELA-AU 13 100042933 100042933 single base substitution C T downstream_gene_variant MELA-AU 13 100043112 100043112 single base substitution G A downstream_gene_variant MELA-AU 13 100043386 100043386 single base substitution C T downstream_gene_variant MELA-AU 13 99848602 99848602 single base substitution C T upstream_gene_variant MELA-AU 13 99848656 99848656 single base substitution G A upstream_gene_variant MELA-AU 13 99848910 99848910 single base substitution G A upstream_gene_variant MELA-AU 13 99849284 99849284 single base substitution G A upstream_gene_variant MELA-AU 13 99850766 99850766 single base substitution A T upstream_gene_variant MELA-AU 13 99850945 99850945 single base substitution G A upstream_gene_variant MELA-AU 13 99851551 99851551 single base substitution G A upstream_gene_variant MELA-AU 13 99851661 99851661 single base substitution G A upstream_gene_variant MELA-AU 13 99851938 99851938 single base substitution T A upstream_gene_variant MELA-AU 13 99852590 99852590 single base substitution G A upstream_gene_variant MELA-AU 13 99852590 99852591 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 13 99852974 99852974 single base substitution G A upstream_gene_variant MELA-AU 13 99852975 99852975 single base substitution G A upstream_gene_variant MELA-AU 13 99853786 99853786 single base substitution T C exon_variant MELA-AU 13 99853786 99853786 single base substitution T C intron_variant MELA-AU 13 99853786 99853786 single base substitution T C synonymous_variant L41L 121T>C MELA-AU 13 99854930 99854930 single base substitution C T intron_variant MELA-AU 13 99855414 99855414 single base substitution C T intron_variant MELA-AU 13 99857778 99857778 single base substitution T G intron_variant MELA-AU 13 99857843 99857843 single base substitution C T intron_variant MELA-AU 13 99858442 99858442 single base substitution C T intron_variant MELA-AU 13 99858668 99858668 single base substitution C T intron_variant MELA-AU 13 99859137 99859137 single base substitution C T intron_variant MELA-AU 13 99859174 99859174 single base substitution T A intron_variant MELA-AU 13 99859359 99859359 single base substitution C T intron_variant MELA-AU 13 99859879 99859879 single base substitution A T intron_variant MELA-AU 13 99860158 99860158 single base substitution C T intron_variant MELA-AU 13 99862922 99862922 single base substitution G A intron_variant MELA-AU 13 99863291 99863291 single base substitution G A intron_variant MELA-AU 13 99863745 99863758 deletion of <=200bp TAAGTGTGAGTTAT - intron_variant MELA-AU 13 99864646 99864646 single base substitution C T intron_variant MELA-AU 13 99865101 99865101 single base substitution A G intron_variant MELA-AU 13 99865505 99865505 single base substitution C T intron_variant MELA-AU 13 99865683 99865683 single base substitution C T intron_variant MELA-AU 13 99865855 99865856 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 99865872 99865872 single base substitution C T intron_variant MELA-AU 13 99866788 99866788 single base substitution C T intron_variant MELA-AU 13 99867058 99867058 single base substitution G A intron_variant MELA-AU 13 99867218 99867218 single base substitution C T intron_variant MELA-AU 13 99867457 99867457 insertion of <=200bp - AA intron_variant MELA-AU 13 99867744 99867744 single base substitution A G intron_variant MELA-AU 13 99867756 99867756 single base substitution A C intron_variant MELA-AU 13 99867829 99867829 single base substitution G A intron_variant MELA-AU 13 99868015 99868015 single base substitution C T intron_variant MELA-AU 13 99868538 99868538 single base substitution T C intron_variant MELA-AU 13 99868715 99868715 single base substitution C T intron_variant MELA-AU 13 99869007 99869007 single base substitution C T intron_variant MELA-AU 13 99869393 99869393 single base substitution C T intron_variant MELA-AU 13 99869582 99869582 single base substitution C T intron_variant MELA-AU 13 99869594 99869594 single base substitution C T intron_variant MELA-AU 13 99869813 99869813 single base substitution C T intron_variant MELA-AU 13 99870221 99870221 single base substitution C T intron_variant MELA-AU 13 99870446 99870446 single base substitution T C intron_variant MELA-AU 13 99871296 99871296 single base substitution C T intron_variant MELA-AU 13 99871603 99871603 single base substitution C T intron_variant MELA-AU 13 99871657 99871657 single base substitution T G intron_variant MELA-AU 13 99871847 99871847 single base substitution T C intron_variant MELA-AU 13 99872440 99872440 single base substitution C T intron_variant MELA-AU 13 99872772 99872772 single base substitution C T intron_variant MELA-AU 13 99873428 99873428 single base substitution G A intron_variant MELA-AU 13 99873489 99873489 single base substitution C T intron_variant MELA-AU 13 99874413 99874413 single base substitution T C intron_variant MELA-AU 13 99874638 99874638 single base substitution A T intron_variant MELA-AU 13 99875281 99875281 single base substitution G A intron_variant MELA-AU 13 99875334 99875334 single base substitution C T intron_variant MELA-AU 13 99875837 99875837 single base substitution C T intron_variant MELA-AU 13 99876026 99876026 single base substitution T C intron_variant MELA-AU 13 99876170 99876171 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 99876785 99876785 single base substitution C T intron_variant MELA-AU 13 99878212 99878212 single base substitution C T intron_variant MELA-AU 13 99878717 99878717 single base substitution C T intron_variant MELA-AU 13 99878945 99878945 single base substitution C T intron_variant MELA-AU 13 99879056 99879056 single base substitution C T intron_variant MELA-AU 13 99880029 99880029 single base substitution C T intron_variant MELA-AU 13 99882785 99882785 single base substitution C T intron_variant MELA-AU 13 99883089 99883089 single base substitution G A intron_variant MELA-AU 13 99883172 99883172 single base substitution A T intron_variant MELA-AU 13 99884481 99884481 single base substitution G A intron_variant MELA-AU 13 99884875 99884875 single base substitution C T intron_variant MELA-AU 13 99885622 99885622 single base substitution C T intron_variant MELA-AU 13 99887438 99887438 single base substitution T C intron_variant MELA-AU 13 99887572 99887572 single base substitution G A intron_variant MELA-AU 13 99887871 99887871 single base substitution C T intron_variant MELA-AU 13 99887981 99887981 single base substitution C T intron_variant MELA-AU 13 99888390 99888390 single base substitution T G intron_variant MELA-AU 13 99889472 99889472 single base substitution G A intron_variant MELA-AU 13 99890697 99890697 single base substitution G A exon_variant MELA-AU 13 99890697 99890697 single base substitution G A missense_variant R58Q 173G>A MELA-AU 13 99890697 99890697 single base substitution G A synonymous_variant S16S 48G>A MELA-AU 13 99890697 99890697 single base substitution G A synonymous_variant S22S 66G>A MELA-AU 13 99890831 99890831 single base substitution C T intron_variant MELA-AU 13 99890926 99890926 single base substitution T A intron_variant MELA-AU 13 99892755 99892755 single base substitution C T intron_variant MELA-AU 13 99892755 99892755 single base substitution C T upstream_gene_variant MELA-AU 13 99893219 99893219 single base substitution C T intron_variant MELA-AU 13 99893219 99893219 single base substitution C T upstream_gene_variant MELA-AU 13 99894682 99894682 single base substitution C T intron_variant MELA-AU 13 99894682 99894682 single base substitution C T upstream_gene_variant MELA-AU 13 99894777 99894777 single base substitution C T intron_variant MELA-AU 13 99894777 99894777 single base substitution C T upstream_gene_variant MELA-AU 13 99894822 99894822 single base substitution C T intron_variant MELA-AU 13 99894822 99894822 single base substitution C T upstream_gene_variant MELA-AU 13 99895935 99895935 single base substitution G C intron_variant MELA-AU 13 99895935 99895935 single base substitution G C upstream_gene_variant MELA-AU 13 99897070 99897071 multiple base substitution (>=2bp and <=200bp) CT AA downstream_gene_variant MELA-AU 13 99897070 99897071 multiple base substitution (>=2bp and <=200bp) CT AA intron_variant MELA-AU 13 99897345 99897345 single base substitution C T downstream_gene_variant MELA-AU 13 99897345 99897345 single base substitution C T intron_variant MELA-AU 13 99897346 99897346 single base substitution C A downstream_gene_variant MELA-AU 13 99897346 99897346 single base substitution C A intron_variant MELA-AU 13 99898381 99898381 single base substitution T C downstream_gene_variant MELA-AU 13 99898381 99898381 single base substitution T C intron_variant MELA-AU 13 99898396 99898396 single base substitution C T downstream_gene_variant MELA-AU 13 99898396 99898396 single base substitution C T intron_variant MELA-AU 13 99898438 99898438 single base substitution G A downstream_gene_variant MELA-AU 13 99898438 99898438 single base substitution G A intron_variant MELA-AU 13 99900464 99900464 single base substitution T A downstream_gene_variant MELA-AU 13 99900464 99900464 single base substitution T A intron_variant MELA-AU 13 99900638 99900638 single base substitution C T downstream_gene_variant MELA-AU 13 99900638 99900638 single base substitution C T intron_variant MELA-AU 13 99901015 99901015 single base substitution C T downstream_gene_variant MELA-AU 13 99901015 99901015 single base substitution C T intron_variant MELA-AU 13 99901026 99901026 single base substitution C T downstream_gene_variant MELA-AU 13 99901026 99901026 single base substitution C T intron_variant MELA-AU 13 99901141 99901141 single base substitution C T downstream_gene_variant MELA-AU 13 99901141 99901141 single base substitution C T intron_variant MELA-AU 13 99902518 99902518 single base substitution C T intron_variant MELA-AU 13 99902951 99902951 single base substitution C T intron_variant MELA-AU 13 99903140 99903140 single base substitution A G intron_variant MELA-AU 13 99903155 99903155 single base substitution C T intron_variant MELA-AU 13 99903378 99903378 single base substitution C T intron_variant MELA-AU 13 99903549 99903549 single base substitution C T intron_variant MELA-AU 13 99903706 99903706 single base substitution C T intron_variant MELA-AU 13 99904140 99904140 single base substitution C T intron_variant MELA-AU 13 99904555 99904555 single base substitution C T intron_variant MELA-AU 13 99904819 99904819 single base substitution C T intron_variant MELA-AU 13 99905377 99905377 single base substitution T C intron_variant MELA-AU 13 99905911 99905911 single base substitution G A intron_variant MELA-AU 13 99906571 99906595 deletion of <=200bp GAATGACTATTCTCTGTTTTTAAAA - intron_variant MELA-AU 13 99906768 99906768 single base substitution C T intron_variant MELA-AU 13 99907327 99907327 single base substitution C T intron_variant MELA-AU 13 99907461 99907461 single base substitution C T intron_variant MELA-AU 13 99907699 99907700 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 13 99907766 99907766 single base substitution T G intron_variant MELA-AU 13 99908195 99908195 single base substitution C T intron_variant MELA-AU 13 99908709 99908713 deletion of <=200bp AAGCC - intron_variant MELA-AU 13 99909343 99909343 single base substitution C T intron_variant MELA-AU 13 99909363 99909363 single base substitution C T intron_variant MELA-AU 13 99909432 99909432 deletion of <=200bp T - intron_variant MELA-AU 13 99909644 99909644 single base substitution T C intron_variant MELA-AU 13 99910260 99910260 single base substitution C T intron_variant MELA-AU 13 99912341 99912341 single base substitution C T intron_variant MELA-AU 13 99912421 99912421 single base substitution G T intron_variant MELA-AU 13 99914202 99914202 single base substitution C T intron_variant MELA-AU 13 99914601 99914601 single base substitution C T intron_variant MELA-AU 13 99915004 99915004 single base substitution G C intron_variant MELA-AU 13 99915700 99915700 single base substitution C T intron_variant MELA-AU 13 99916319 99916319 single base substitution C T intron_variant MELA-AU 13 99916718 99916718 single base substitution C T intron_variant MELA-AU 13 99916784 99916784 single base substitution C T intron_variant MELA-AU 13 99916988 99916988 single base substitution G A intron_variant MELA-AU 13 99917685 99917685 single base substitution C T intron_variant MELA-AU 13 99917853 99917853 single base substitution T C intron_variant MELA-AU 13 99918155 99918155 single base substitution C T intron_variant MELA-AU 13 99918248 99918248 single base substitution C T intron_variant MELA-AU 13 99918313 99918313 single base substitution C T intron_variant MELA-AU 13 99918530 99918530 single base substitution G A intron_variant MELA-AU 13 99918995 99918995 single base substitution T C intron_variant MELA-AU 13 99919197 99919197 single base substitution C T intron_variant MELA-AU 13 99919553 99919553 single base substitution C T intron_variant MELA-AU 13 99920323 99920323 single base substitution T G intron_variant MELA-AU 13 99921472 99921472 single base substitution C T intron_variant MELA-AU 13 99921478 99921478 single base substitution A G intron_variant MELA-AU 13 99921850 99921850 single base substitution C T intron_variant MELA-AU 13 99921946 99921946 single base substitution C T intron_variant MELA-AU 13 99921966 99921967 multiple base substitution (>=2bp and <=200bp) TT CC intron_variant MELA-AU 13 99922766 99922766 single base substitution T C intron_variant MELA-AU 13 99923358 99923358 single base substitution G A intron_variant MELA-AU 13 99923949 99923949 single base substitution C T intron_variant MELA-AU 13 99924152 99924152 single base substitution C T intron_variant MELA-AU 13 99924397 99924397 single base substitution C T intron_variant MELA-AU 13 99925502 99925502 single base substitution C T intron_variant MELA-AU 13 99925687 99925687 single base substitution G T intron_variant MELA-AU 13 99925739 99925739 single base substitution C T intron_variant MELA-AU 13 99925933 99925933 single base substitution C T intron_variant MELA-AU 13 99925934 99925934 single base substitution C T intron_variant MELA-AU 13 99926478 99926478 single base substitution C T intron_variant MELA-AU 13 99926580 99926580 single base substitution C T intron_variant MELA-AU 13 99927033 99927033 single base substitution G A intron_variant MELA-AU 13 99927167 99927167 single base substitution T G intron_variant MELA-AU 13 99928144 99928144 single base substitution C T intron_variant MELA-AU 13 99928952 99928952 single base substitution T A intron_variant MELA-AU 13 99929613 99929613 single base substitution C T intron_variant MELA-AU 13 99930700 99930700 single base substitution T A intron_variant MELA-AU 13 99931033 99931033 single base substitution T C intron_variant MELA-AU 13 99931198 99931198 single base substitution A T intron_variant MELA-AU 13 99931393 99931393 single base substitution C T intron_variant MELA-AU 13 99931760 99931760 single base substitution A G intron_variant MELA-AU 13 99932153 99932153 single base substitution A G intron_variant MELA-AU 13 99932708 99932708 single base substitution C T intron_variant MELA-AU 13 99933892 99933892 single base substitution C T intron_variant MELA-AU 13 99934793 99934793 single base substitution C T intron_variant MELA-AU 13 99934870 99934870 single base substitution T C intron_variant MELA-AU 13 99935920 99935920 single base substitution C T intron_variant MELA-AU 13 99936778 99936778 single base substitution T A intron_variant MELA-AU 13 99937649 99937649 single base substitution T A intron_variant MELA-AU 13 99937954 99937954 single base substitution C T intron_variant MELA-AU 13 99938344 99938344 single base substitution G A intron_variant MELA-AU 13 99938578 99938578 single base substitution C T intron_variant MELA-AU 13 99938668 99938668 single base substitution C T intron_variant MELA-AU 13 99938778 99938778 single base substitution C T intron_variant MELA-AU 13 99938957 99938957 single base substitution C T intron_variant MELA-AU 13 99939084 99939084 single base substitution T A intron_variant MELA-AU 13 99939198 99939198 single base substitution T G intron_variant MELA-AU 13 99939288 99939288 single base substitution A G intron_variant MELA-AU 13 99939426 99939426 single base substitution C T intron_variant MELA-AU 13 99939482 99939482 single base substitution C T intron_variant MELA-AU 13 99939590 99939591 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 99940883 99940883 single base substitution C T intron_variant MELA-AU 13 99941025 99941025 single base substitution A G intron_variant MELA-AU 13 99941330 99941330 single base substitution G A intron_variant MELA-AU 13 99941666 99941666 single base substitution C T intron_variant MELA-AU 13 99942916 99942916 single base substitution T C intron_variant MELA-AU 13 99943615 99943615 single base substitution T C intron_variant MELA-AU 13 99943953 99943953 single base substitution C T intron_variant MELA-AU 13 99944206 99944206 single base substitution C A intron_variant MELA-AU 13 99945529 99945529 single base substitution T C intron_variant MELA-AU 13 99945587 99945587 single base substitution G A intron_variant MELA-AU 13 99945697 99945697 single base substitution C T intron_variant MELA-AU 13 99945711 99945711 single base substitution C T intron_variant MELA-AU 13 99946011 99946011 single base substitution C T intron_variant MELA-AU 13 99946180 99946180 single base substitution A T intron_variant MELA-AU 13 99946351 99946351 single base substitution G A intron_variant MELA-AU 13 99946499 99946499 single base substitution C T intron_variant MELA-AU 13 99946591 99946591 single base substitution C T intron_variant MELA-AU 13 99946737 99946737 single base substitution T A intron_variant MELA-AU 13 99947867 99947867 single base substitution C T intron_variant MELA-AU 13 99947949 99947949 single base substitution C T intron_variant MELA-AU 13 99948274 99948274 single base substitution G T intron_variant MELA-AU 13 99948288 99948288 single base substitution A C intron_variant MELA-AU 13 99949178 99949178 single base substitution C T intron_variant MELA-AU 13 99949749 99949749 single base substitution C T intron_variant MELA-AU 13 99950729 99950730 deletion of <=200bp TG - intron_variant MELA-AU 13 99951819 99951819 single base substitution C T intron_variant MELA-AU 13 99952061 99952061 single base substitution C T intron_variant MELA-AU 13 99952799 99952799 single base substitution C T intron_variant MELA-AU 13 99953020 99953020 single base substitution C T intron_variant MELA-AU 13 99953455 99953455 single base substitution C T intron_variant MELA-AU 13 99955140 99955140 single base substitution C T intron_variant MELA-AU 13 99955271 99955271 single base substitution C T intron_variant MELA-AU 13 99955271 99955271 single base substitution C T upstream_gene_variant MELA-AU 13 99956380 99956380 single base substitution C T intron_variant MELA-AU 13 99956380 99956380 single base substitution C T upstream_gene_variant MELA-AU 13 99957675 99957675 single base substitution C T intron_variant MELA-AU 13 99957675 99957675 single base substitution C T upstream_gene_variant MELA-AU 13 99959139 99959139 single base substitution C T intron_variant MELA-AU 13 99959139 99959139 single base substitution C T upstream_gene_variant MELA-AU 13 99959253 99959253 single base substitution T C intron_variant MELA-AU 13 99959253 99959253 single base substitution T C upstream_gene_variant MELA-AU 13 99959834 99959834 single base substitution T A intron_variant MELA-AU 13 99959834 99959834 single base substitution T A upstream_gene_variant MELA-AU 13 99959869 99959869 single base substitution G A intron_variant MELA-AU 13 99959869 99959869 single base substitution G A upstream_gene_variant MELA-AU 13 99960300 99960300 single base substitution C T intron_variant MELA-AU 13 99960300 99960300 single base substitution C T upstream_gene_variant MELA-AU 13 99961608 99961608 single base substitution C T intron_variant MELA-AU 13 99961608 99961608 single base substitution C T upstream_gene_variant MELA-AU 13 99962035 99962035 single base substitution T G intron_variant MELA-AU 13 99962035 99962035 single base substitution T G upstream_gene_variant MELA-AU 13 99962060 99962060 single base substitution C T intron_variant MELA-AU 13 99962060 99962060 single base substitution C T upstream_gene_variant MELA-AU 13 99962384 99962384 single base substitution C T intron_variant MELA-AU 13 99962384 99962384 single base substitution C T upstream_gene_variant MELA-AU 13 99963446 99963446 single base substitution C T intron_variant MELA-AU 13 99963446 99963446 single base substitution C T upstream_gene_variant MELA-AU 13 99963834 99963834 single base substitution C T intron_variant MELA-AU 13 99963834 99963834 single base substitution C T upstream_gene_variant MELA-AU 13 99964071 99964071 single base substitution C T intron_variant MELA-AU 13 99964071 99964071 single base substitution C T upstream_gene_variant MELA-AU 13 99965314 99965333 deletion of <=200bp CAAGCTCTGCCTCCTGGATT - exon_variant MELA-AU 13 99965314 99965333 deletion of <=200bp CAAGCTCTGCCTCCTGGATT - intron_variant MELA-AU 13 99965314 99965333 deletion of <=200bp CAAGCTCTGCCTCCTGGATT - upstream_gene_variant MELA-AU 13 99966577 99966577 single base substitution T C downstream_gene_variant MELA-AU 13 99966577 99966577 single base substitution T C intron_variant MELA-AU 13 99966577 99966577 single base substitution T C upstream_gene_variant MELA-AU 13 99966828 99966828 single base substitution C T downstream_gene_variant MELA-AU 13 99966828 99966828 single base substitution C T intron_variant MELA-AU 13 99966828 99966828 single base substitution C T upstream_gene_variant MELA-AU 13 99966886 99966886 single base substitution C T downstream_gene_variant MELA-AU 13 99966886 99966886 single base substitution C T intron_variant MELA-AU 13 99966886 99966886 single base substitution C T upstream_gene_variant MELA-AU 13 99967328 99967328 single base substitution C T downstream_gene_variant MELA-AU 13 99967328 99967328 single base substitution C T intron_variant MELA-AU 13 99968465 99968465 single base substitution C T downstream_gene_variant MELA-AU 13 99968465 99968465 single base substitution C T intron_variant MELA-AU 13 99968749 99968749 single base substitution C T downstream_gene_variant MELA-AU 13 99968749 99968749 single base substitution C T intron_variant MELA-AU 13 99968877 99968877 single base substitution C T downstream_gene_variant MELA-AU 13 99968877 99968877 single base substitution C T intron_variant MELA-AU 13 99969066 99969066 single base substitution C T downstream_gene_variant MELA-AU 13 99969066 99969066 single base substitution C T intron_variant MELA-AU 13 99969088 99969088 single base substitution T A downstream_gene_variant MELA-AU 13 99969088 99969088 single base substitution T A intron_variant MELA-AU 13 99969113 99969113 single base substitution A G downstream_gene_variant MELA-AU 13 99969113 99969113 single base substitution A G intron_variant MELA-AU 13 99969118 99969118 single base substitution G A downstream_gene_variant MELA-AU 13 99969118 99969118 single base substitution G A intron_variant MELA-AU 13 99969241 99969241 single base substitution A G downstream_gene_variant MELA-AU 13 99969241 99969241 single base substitution A G intron_variant MELA-AU 13 99969257 99969257 single base substitution C T downstream_gene_variant MELA-AU 13 99969257 99969257 single base substitution C T intron_variant MELA-AU 13 99969258 99969258 single base substitution C T downstream_gene_variant MELA-AU 13 99969258 99969258 single base substitution C T intron_variant MELA-AU 13 99970424 99970424 single base substitution C T downstream_gene_variant MELA-AU 13 99970424 99970424 single base substitution C T intron_variant MELA-AU 13 99971703 99971703 single base substitution G A intron_variant MELA-AU 13 99971933 99971933 single base substitution C T intron_variant MELA-AU 13 99971978 99971978 single base substitution C T intron_variant MELA-AU 13 99972372 99972372 single base substitution C T intron_variant MELA-AU 13 99972626 99972626 single base substitution C T intron_variant MELA-AU 13 99972675 99972675 single base substitution C T intron_variant MELA-AU 13 99974380 99974380 single base substitution A G intron_variant MELA-AU 13 99974675 99974675 single base substitution A T intron_variant MELA-AU 13 99975326 99975326 single base substitution A G intron_variant MELA-AU 13 99975378 99975379 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 99975412 99975412 single base substitution C T intron_variant MELA-AU 13 99975590 99975590 single base substitution C T intron_variant MELA-AU 13 99976576 99976576 single base substitution A T intron_variant MELA-AU 13 99977389 99977389 single base substitution C T intron_variant MELA-AU 13 99977592 99977592 single base substitution C T intron_variant MELA-AU 13 99977615 99977615 single base substitution C T intron_variant MELA-AU 13 99977719 99977719 single base substitution C T intron_variant MELA-AU 13 99977821 99977821 single base substitution C T intron_variant MELA-AU 13 99977949 99977949 single base substitution C T intron_variant MELA-AU 13 99978376 99978376 single base substitution C T intron_variant MELA-AU 13 99978571 99978571 single base substitution C T intron_variant MELA-AU 13 99979040 99979040 single base substitution C T intron_variant MELA-AU 13 99979196 99979196 single base substitution G T intron_variant MELA-AU 13 99979421 99979421 single base substitution C T intron_variant MELA-AU 13 99980067 99980067 single base substitution C T intron_variant MELA-AU 13 99980501 99980501 single base substitution C T intron_variant MELA-AU 13 99981926 99981926 single base substitution C T intron_variant MELA-AU 13 99982782 99982782 single base substitution A G intron_variant MELA-AU 13 99983209 99983209 single base substitution G A intron_variant MELA-AU 13 99983259 99983259 single base substitution C T intron_variant MELA-AU 13 99984115 99984115 single base substitution C T intron_variant MELA-AU 13 99984140 99984140 insertion of <=200bp - C intron_variant MELA-AU 13 99984536 99984536 single base substitution A T intron_variant MELA-AU 13 99984934 99984934 single base substitution C T intron_variant MELA-AU 13 99985223 99985223 single base substitution C T intron_variant MELA-AU 13 99986636 99986636 single base substitution T C intron_variant MELA-AU 13 99987201 99987201 single base substitution A T intron_variant MELA-AU 13 99987970 99987970 single base substitution C T intron_variant MELA-AU 13 99989255 99989255 single base substitution A G intron_variant MELA-AU 13 99989284 99989284 single base substitution C T intron_variant MELA-AU 13 99990215 99990215 single base substitution C T intron_variant MELA-AU 13 99991302 99991302 single base substitution C T intron_variant MELA-AU 13 99991361 99991361 single base substitution T C intron_variant MELA-AU 13 99991680 99991680 single base substitution C T intron_variant MELA-AU 13 99991934 99991934 single base substitution A C intron_variant MELA-AU 13 99992189 99992189 single base substitution C T intron_variant MELA-AU 13 99992295 99992295 single base substitution T C intron_variant MELA-AU 13 99993175 99993175 single base substitution C T downstream_gene_variant MELA-AU 13 99993175 99993175 single base substitution C T intron_variant MELA-AU 13 99993479 99993479 single base substitution C T downstream_gene_variant MELA-AU 13 99993479 99993479 single base substitution C T intron_variant MELA-AU 13 99993488 99993488 single base substitution C T downstream_gene_variant MELA-AU 13 99993488 99993488 single base substitution C T intron_variant MELA-AU 13 99993822 99993822 single base substitution G A downstream_gene_variant MELA-AU 13 99993822 99993822 single base substitution G A intron_variant MELA-AU 13 99993913 99993913 single base substitution G A downstream_gene_variant MELA-AU 13 99993913 99993913 single base substitution G A intron_variant MELA-AU 13 99994017 99994017 single base substitution A C downstream_gene_variant MELA-AU 13 99994017 99994017 single base substitution A C intron_variant MELA-AU 13 99994255 99994255 single base substitution C T downstream_gene_variant MELA-AU 13 99994255 99994255 single base substitution C T intron_variant MELA-AU 13 99994597 99994597 single base substitution C T downstream_gene_variant MELA-AU 13 99994597 99994597 single base substitution C T intron_variant MELA-AU 13 99994602 99994602 single base substitution G A downstream_gene_variant MELA-AU 13 99994602 99994602 single base substitution G A intron_variant MELA-AU 13 99995686 99995686 single base substitution A G downstream_gene_variant MELA-AU 13 99995686 99995686 single base substitution A G intron_variant MELA-AU 13 99995934 99995934 single base substitution C T downstream_gene_variant MELA-AU 13 99995934 99995934 single base substitution C T intron_variant MELA-AU 13 99996150 99996150 single base substitution G A downstream_gene_variant MELA-AU 13 99996150 99996150 single base substitution G A intron_variant MELA-AU 13 99996318 99996318 single base substitution C T downstream_gene_variant MELA-AU 13 99996318 99996318 single base substitution C T intron_variant MELA-AU 13 99996543 99996543 single base substitution C T downstream_gene_variant MELA-AU 13 99996543 99996543 single base substitution C T intron_variant MELA-AU 13 99996592 99996592 single base substitution C T downstream_gene_variant MELA-AU 13 99996592 99996592 single base substitution C T intron_variant MELA-AU 13 99996908 99996908 single base substitution C T downstream_gene_variant MELA-AU 13 99996908 99996908 single base substitution C T intron_variant MELA-AU 13 99996940 99996940 single base substitution T A downstream_gene_variant MELA-AU 13 99996940 99996940 single base substitution T A intron_variant MELA-AU 13 99997010 99997010 deletion of <=200bp C - downstream_gene_variant MELA-AU 13 99997010 99997010 deletion of <=200bp C - intron_variant MELA-AU 13 99997868 99997868 single base substitution C T intron_variant MELA-AU 13 99997896 99997896 single base substitution C T intron_variant MELA-AU 13 99998393 99998394 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 13 99998439 99998439 single base substitution C T intron_variant MELA-AU 13 99998557 99998557 single base substitution C T intron_variant MELA-AU 13 99998824 99998824 single base substitution C T intron_variant MELA-AU 13 99999496 99999496 single base substitution C T intron_variant MELA-AU 13 99999583 99999583 single base substitution C T intron_variant MELA-AU 13 99999584 99999584 single base substitution C T intron_variant MELA-AU 13 99999787 99999787 single base substitution C G intron_variant MELA-AU 13 99999870 99999870 single base substitution C T intron_variant ORCA-IN 13 100004099 100004099 single base substitution G T intron_variant ORCA-IN 13 100018500 100018500 single base substitution A G intron_variant ORCA-IN 13 100018500 100018500 single base substitution A G upstream_gene_variant ORCA-IN 13 100019874 100019874 single base substitution G T intron_variant ORCA-IN 13 100019874 100019874 single base substitution G T upstream_gene_variant ORCA-IN 13 100020942 100020942 single base substitution A T intron_variant ORCA-IN 13 100024253 100024253 single base substitution A G intron_variant ORCA-IN 13 99933094 99933094 insertion of <=200bp - A intron_variant ORCA-IN 13 99949796 99949796 single base substitution G A intron_variant OV-AU 13 100004703 100004703 single base substitution G C intron_variant OV-AU 13 100007136 100007136 single base substitution C A intron_variant OV-AU 13 100014489 100014489 single base substitution A C intron_variant OV-AU 13 100014843 100014843 single base substitution C T intron_variant OV-AU 13 100020814 100020814 single base substitution G C intron_variant OV-AU 13 100030499 100030499 single base substitution G T downstream_gene_variant OV-AU 13 100030499 100030499 single base substitution G T intron_variant OV-AU 13 100033338 100033338 single base substitution G T downstream_gene_variant OV-AU 13 100033338 100033338 single base substitution G T intron_variant OV-AU 13 100038077 100038077 single base substitution A G 3_prime_UTR_variant OV-AU 13 100038077 100038077 single base substitution A G downstream_gene_variant OV-AU 13 100038077 100038077 single base substitution A G exon_variant OV-AU 13 99852195 99852195 single base substitution C A upstream_gene_variant OV-AU 13 99855452 99855452 single base substitution G C intron_variant OV-AU 13 99857890 99857890 single base substitution C T intron_variant OV-AU 13 99862510 99862510 single base substitution G T intron_variant OV-AU 13 99869293 99869293 single base substitution C G intron_variant OV-AU 13 99879915 99879915 single base substitution C G intron_variant OV-AU 13 99882071 99882071 single base substitution T C intron_variant OV-AU 13 99905569 99905569 single base substitution G C intron_variant OV-AU 13 99906973 99906973 single base substitution A G intron_variant OV-AU 13 99909142 99909142 single base substitution G T intron_variant OV-AU 13 99915082 99915082 single base substitution T C intron_variant OV-AU 13 99918819 99918819 single base substitution G T intron_variant OV-AU 13 99920746 99920746 single base substitution C G intron_variant OV-AU 13 99934962 99934962 single base substitution C G intron_variant OV-AU 13 99937650 99937650 single base substitution T C intron_variant OV-AU 13 99938124 99938124 single base substitution A T intron_variant OV-AU 13 99939493 99939493 single base substitution T C intron_variant OV-AU 13 99940665 99940665 single base substitution G C intron_variant OV-AU 13 99942306 99942306 single base substitution C T intron_variant OV-AU 13 99944178 99944178 single base substitution A G intron_variant OV-AU 13 99950797 99950797 single base substitution G C intron_variant OV-AU 13 99970678 99970678 single base substitution C G downstream_gene_variant OV-AU 13 99970678 99970678 single base substitution C G intron_variant OV-AU 13 99975202 99975202 single base substitution A G intron_variant OV-AU 13 99983995 99983995 single base substitution C T intron_variant OV-AU 13 99986210 99986210 single base substitution A T intron_variant OV-AU 13 99999280 99999280 single base substitution C A intron_variant PACA-AU 13 100009847 100009847 single base substitution G T intron_variant PACA-AU 13 100014228 100014228 single base substitution T C intron_variant PACA-AU 13 100019024 100019024 single base substitution C T intron_variant PACA-AU 13 100019024 100019024 single base substitution C T upstream_gene_variant PACA-AU 13 100020250 100020250 single base substitution C T intron_variant PACA-AU 13 100031460 100031460 single base substitution C A downstream_gene_variant PACA-AU 13 100031460 100031460 single base substitution C A intron_variant PACA-AU 13 100032958 100032958 single base substitution A T downstream_gene_variant PACA-AU 13 100032958 100032958 single base substitution A T intron_variant PACA-AU 13 100034344 100034345 deletion of <=200bp AG - downstream_gene_variant PACA-AU 13 100034344 100034345 deletion of <=200bp AG - intron_variant PACA-AU 13 100037174 100037174 single base substitution G A intron_variant PACA-AU 13 100040569 100040569 single base substitution C T downstream_gene_variant PACA-AU 13 100043003 100043025 deletion of <=200bp GGGCCCTGGGAGGTGGTGGCAAC - downstream_gene_variant PACA-AU 13 99850843 99850843 single base substitution A C upstream_gene_variant PACA-AU 13 99851459 99851459 single base substitution C T upstream_gene_variant PACA-AU 13 99851732 99851732 single base substitution C T upstream_gene_variant PACA-AU 13 99855278 99855278 insertion of <=200bp - TTTATTTA intron_variant PACA-AU 13 99860803 99860803 single base substitution A G intron_variant PACA-AU 13 99863425 99863425 single base substitution A G intron_variant PACA-AU 13 99870709 99870709 deletion of <=200bp T - intron_variant PACA-AU 13 99873026 99873026 single base substitution T A intron_variant PACA-AU 13 99880540 99880540 single base substitution C T intron_variant PACA-AU 13 99881385 99881385 single base substitution C T intron_variant PACA-AU 13 99884374 99884374 single base substitution A G intron_variant PACA-AU 13 99906177 99906177 single base substitution A T intron_variant PACA-AU 13 99910918 99910918 single base substitution T C intron_variant PACA-AU 13 99912979 99912979 single base substitution T C intron_variant PACA-AU 13 99913853 99913853 single base substitution C A intron_variant PACA-AU 13 99918939 99918939 insertion of <=200bp - AT intron_variant PACA-AU 13 99926038 99926038 single base substitution T G intron_variant PACA-AU 13 99931449 99931449 single base substitution C T intron_variant PACA-AU 13 99933175 99933175 single base substitution C T intron_variant PACA-AU 13 99933471 99933471 single base substitution A C intron_variant PACA-AU 13 99936763 99936763 single base substitution T C intron_variant PACA-AU 13 99937344 99937344 single base substitution G A intron_variant PACA-AU 13 99947726 99947726 single base substitution C T intron_variant PACA-AU 13 99960072 99960072 single base substitution T G intron_variant PACA-AU 13 99960072 99960072 single base substitution T G upstream_gene_variant PACA-AU 13 99965517 99965517 single base substitution C T exon_variant PACA-AU 13 99965517 99965517 single base substitution C T intron_variant PACA-AU 13 99965517 99965517 single base substitution C T upstream_gene_variant PACA-AU 13 99967120 99967120 single base substitution T G downstream_gene_variant PACA-AU 13 99967120 99967120 single base substitution T G intron_variant PACA-AU 13 99967258 99967258 single base substitution C T downstream_gene_variant PACA-AU 13 99967258 99967258 single base substitution C T intron_variant PACA-AU 13 99970845 99970845 single base substitution C T downstream_gene_variant PACA-AU 13 99970845 99970845 single base substitution C T intron_variant PACA-AU 13 99971738 99971738 single base substitution C A intron_variant PACA-AU 13 99979727 99979728 deletion of <=200bp TC - intron_variant PACA-AU 13 99980514 99980514 single base substitution G A intron_variant PACA-AU 13 99987013 99987013 single base substitution T C intron_variant PACA-AU 13 99988805 99988805 single base substitution G A intron_variant PACA-CA 13 100002050 100002050 single base substitution C T intron_variant PACA-CA 13 100002136 100002136 single base substitution G C intron_variant PACA-CA 13 100002876 100002876 single base substitution G A intron_variant PACA-CA 13 100005449 100005449 single base substitution A G intron_variant PACA-CA 13 100007197 100007197 single base substitution A G intron_variant PACA-CA 13 100008887 100008887 insertion of <=200bp - T intron_variant PACA-CA 13 100010209 100010209 single base substitution G T intron_variant PACA-CA 13 100014920 100014920 single base substitution A G intron_variant PACA-CA 13 100019012 100019012 single base substitution A G intron_variant PACA-CA 13 100019012 100019012 single base substitution A G upstream_gene_variant PACA-CA 13 100019064 100019064 single base substitution C A intron_variant PACA-CA 13 100019064 100019064 single base substitution C A upstream_gene_variant PACA-CA 13 100020309 100020309 deletion of <=200bp T - intron_variant PACA-CA 13 100024714 100024725 deletion of <=200bp TTCTGTTCAGGA - intron_variant PACA-CA 13 100027799 100027799 single base substitution G A intron_variant PACA-CA 13 100027837 100027837 deletion of <=200bp A - intron_variant PACA-CA 13 100029826 100029826 single base substitution T C downstream_gene_variant PACA-CA 13 100029826 100029826 single base substitution T C intron_variant PACA-CA 13 100032195 100032195 single base substitution C T downstream_gene_variant PACA-CA 13 100032195 100032195 single base substitution C T intron_variant PACA-CA 13 100036956 100036956 single base substitution C T intron_variant PACA-CA 13 100037037 100037037 single base substitution G A intron_variant PACA-CA 13 100037070 100037070 single base substitution C T intron_variant PACA-CA 13 99848286 99848286 single base substitution C T upstream_gene_variant PACA-CA 13 99863507 99863507 single base substitution C A intron_variant PACA-CA 13 99872558 99872558 single base substitution C T intron_variant PACA-CA 13 99872562 99872562 single base substitution A T intron_variant PACA-CA 13 99880295 99880295 single base substitution T C intron_variant PACA-CA 13 99881627 99881627 single base substitution A T intron_variant PACA-CA 13 99882663 99882663 single base substitution C A intron_variant PACA-CA 13 99883916 99883916 single base substitution C G intron_variant PACA-CA 13 99886041 99886041 single base substitution G T intron_variant PACA-CA 13 99886899 99886899 single base substitution C A intron_variant PACA-CA 13 99890727 99890727 single base substitution C A exon_variant PACA-CA 13 99890727 99890727 single base substitution C A missense_variant S68Y 203C>A PACA-CA 13 99890727 99890727 single base substitution C A synonymous_variant L26L 78C>A PACA-CA 13 99890727 99890727 single base substitution C A synonymous_variant L32L 96C>A PACA-CA 13 99896625 99896625 insertion of <=200bp - TATATACACACATATGCATGTGTG intron_variant PACA-CA 13 99896625 99896625 insertion of <=200bp - TATATACACACATATGCATGTGTG upstream_gene_variant PACA-CA 13 99897259 99897259 single base substitution G A downstream_gene_variant PACA-CA 13 99897259 99897259 single base substitution G A intron_variant PACA-CA 13 99897713 99897713 single base substitution G A downstream_gene_variant PACA-CA 13 99897713 99897713 single base substitution G A intron_variant PACA-CA 13 99906442 99906442 single base substitution C T intron_variant PACA-CA 13 99909044 99909044 single base substitution C G intron_variant PACA-CA 13 99909135 99909135 single base substitution G T intron_variant PACA-CA 13 99910252 99910252 single base substitution C A intron_variant PACA-CA 13 99918938 99918938 insertion of <=200bp - AT intron_variant PACA-CA 13 99919700 99919700 insertion of <=200bp - G intron_variant PACA-CA 13 99921979 99921979 single base substitution A G intron_variant PACA-CA 13 99927399 99927399 single base substitution T C intron_variant PACA-CA 13 99931429 99931429 single base substitution C T intron_variant PACA-CA 13 99947354 99947354 single base substitution G A intron_variant PACA-CA 13 99948437 99948437 single base substitution G T intron_variant PACA-CA 13 99949345 99949345 single base substitution C T intron_variant PACA-CA 13 99960196 99960196 single base substitution G A intron_variant PACA-CA 13 99960196 99960196 single base substitution G A upstream_gene_variant PACA-CA 13 99961881 99961881 single base substitution G T intron_variant PACA-CA 13 99961881 99961881 single base substitution G T upstream_gene_variant PACA-CA 13 99962971 99962971 single base substitution A C intron_variant PACA-CA 13 99962971 99962971 single base substitution A C upstream_gene_variant PACA-CA 13 99965485 99965485 single base substitution G A exon_variant PACA-CA 13 99965485 99965485 single base substitution G A intron_variant PACA-CA 13 99965485 99965485 single base substitution G A upstream_gene_variant PACA-CA 13 99967561 99967561 single base substitution T C downstream_gene_variant PACA-CA 13 99967561 99967561 single base substitution T C intron_variant PACA-CA 13 99974333 99974333 single base substitution G T intron_variant PACA-CA 13 99977169 99977169 single base substitution A G intron_variant PACA-CA 13 99977899 99977899 single base substitution G A intron_variant PACA-CA 13 99984695 99984695 single base substitution C A intron_variant PACA-CA 13 99985048 99985052 deletion of <=200bp CTTTG - intron_variant PACA-CA 13 99985059 99985059 insertion of <=200bp - AAG intron_variant PACA-CA 13 99985065 99985065 insertion of <=200bp - T intron_variant PACA-CA 13 99988685 99988685 single base substitution G C intron_variant PACA-CA 13 99991183 99991183 single base substitution G A intron_variant PACA-CA 13 99991386 99991386 single base substitution C T intron_variant PAEN-AU 13 100002073 100002073 single base substitution A T intron_variant PAEN-AU 13 100037037 100037037 single base substitution G A intron_variant PAEN-AU 13 100037067 100037067 single base substitution G A intron_variant PAEN-AU 13 99851035 99851035 single base substitution A T upstream_gene_variant PAEN-AU 13 99871522 99871522 single base substitution C T intron_variant PAEN-AU 13 99894707 99894707 single base substitution G T intron_variant PAEN-AU 13 99894707 99894707 single base substitution G T upstream_gene_variant PAEN-AU 13 99918048 99918048 single base substitution C A intron_variant PAEN-AU 13 99972454 99972454 single base substitution C G intron_variant PAEN-AU 13 99982494 99982494 single base substitution C T intron_variant PAEN-IT 13 99983480 99983480 single base substitution C T intron_variant PAEN-IT 13 99988966 99988966 single base substitution G T intron_variant PBCA-DE 13 100012926 100012926 single base substitution G A intron_variant PBCA-DE 13 100013431 100013431 single base substitution A G intron_variant PBCA-DE 13 100014175 100014175 single base substitution G A intron_variant PBCA-DE 13 100030928 100030928 single base substitution G A downstream_gene_variant PBCA-DE 13 100030928 100030928 single base substitution G A intron_variant PBCA-DE 13 100035407 100035408 deletion of <=200bp TG - intron_variant PBCA-DE 13 100038533 100038533 single base substitution C T 3_prime_UTR_variant PBCA-DE 13 100038533 100038533 single base substitution C T downstream_gene_variant PBCA-DE 13 100038533 100038533 single base substitution C T exon_variant PBCA-DE 13 99856022 99856022 single base substitution C T intron_variant PBCA-DE 13 99868394 99868394 single base substitution C T intron_variant PBCA-DE 13 99871115 99871115 single base substitution G C intron_variant PBCA-DE 13 99876845 99876845 single base substitution G T intron_variant PBCA-DE 13 99879017 99879017 single base substitution A G intron_variant PBCA-DE 13 99879319 99879320 deletion of <=200bp GT - intron_variant PBCA-DE 13 99883302 99883302 deletion of <=200bp A - intron_variant PBCA-DE 13 99884655 99884655 single base substitution T G intron_variant PBCA-DE 13 99887733 99887733 single base substitution C A intron_variant PBCA-DE 13 99892659 99892659 single base substitution C T intron_variant PBCA-DE 13 99892659 99892659 single base substitution C T upstream_gene_variant PBCA-DE 13 99896656 99896656 single base substitution C T intron_variant PBCA-DE 13 99896656 99896656 single base substitution C T upstream_gene_variant PBCA-DE 13 99901578 99901578 single base substitution G T downstream_gene_variant PBCA-DE 13 99901578 99901578 single base substitution G T intron_variant PBCA-DE 13 99905875 99905875 single base substitution C A intron_variant PBCA-DE 13 99910587 99910587 single base substitution C T intron_variant PBCA-DE 13 99912969 99912969 deletion of <=200bp T - intron_variant PBCA-DE 13 99915715 99915715 single base substitution T G intron_variant PBCA-DE 13 99940555 99940555 single base substitution C T intron_variant PBCA-DE 13 99952957 99952957 single base substitution G A intron_variant PBCA-DE 13 99958747 99958747 insertion of <=200bp - A intron_variant PBCA-DE 13 99958747 99958747 insertion of <=200bp - A upstream_gene_variant PBCA-DE 13 99959791 99959791 insertion of <=200bp - T intron_variant PBCA-DE 13 99959791 99959791 insertion of <=200bp - T upstream_gene_variant PBCA-DE 13 99966830 99966830 single base substitution G T downstream_gene_variant PBCA-DE 13 99966830 99966830 single base substitution G T intron_variant PBCA-DE 13 99966830 99966830 single base substitution G T upstream_gene_variant PRAD-CA 13 100037070 100037070 single base substitution C T intron_variant PRAD-CA 13 100040780 100040780 single base substitution G A downstream_gene_variant PRAD-CA 13 99855184 99855184 single base substitution C T intron_variant PRAD-CA 13 99871601 99871601 single base substitution G A intron_variant PRAD-CA 13 99889531 99889531 single base substitution C T intron_variant PRAD-CA 13 99945701 99945701 single base substitution T A intron_variant PRAD-CA 13 99954972 99954972 single base substitution A G intron_variant PRAD-CA 13 99965575 99965575 single base substitution A G exon_variant PRAD-CA 13 99965575 99965575 single base substitution A G intron_variant PRAD-CA 13 99965575 99965575 single base substitution A G upstream_gene_variant PRAD-CA 13 99968275 99968275 single base substitution A G downstream_gene_variant PRAD-CA 13 99968275 99968275 single base substitution A G intron_variant PRAD-UK 13 100002256 100002256 single base substitution C G intron_variant PRAD-UK 13 100004352 100004352 deletion of <=200bp T - intron_variant PRAD-UK 13 100017497 100017519 deletion of <=200bp TTTGTAACAGCCAGCAGTAGGTT - intron_variant PRAD-UK 13 100017497 100017519 deletion of <=200bp TTTGTAACAGCCAGCAGTAGGTT - upstream_gene_variant PRAD-UK 13 100021181 100021181 single base substitution G A intron_variant PRAD-UK 13 100027837 100027837 insertion of <=200bp - A intron_variant PRAD-UK 13 100041835 100041835 single base substitution T C downstream_gene_variant PRAD-UK 13 99849138 99849138 single base substitution C G upstream_gene_variant PRAD-UK 13 99857460 99857460 single base substitution G T intron_variant PRAD-UK 13 99857461 99857461 single base substitution A T intron_variant PRAD-UK 13 99861324 99861324 single base substitution G A intron_variant PRAD-UK 13 99887920 99887920 single base substitution A C intron_variant PRAD-UK 13 99911375 99911375 single base substitution A T intron_variant PRAD-UK 13 99924489 99924489 deletion of <=200bp A - intron_variant PRAD-UK 13 99937670 99937670 single base substitution A G intron_variant PRAD-UK 13 99943151 99943151 single base substitution A C intron_variant PRAD-UK 13 99950864 99950864 single base substitution G T intron_variant PRAD-UK 13 99955346 99955346 single base substitution C G intron_variant PRAD-UK 13 99955346 99955346 single base substitution C G upstream_gene_variant PRAD-UK 13 99973837 99973837 single base substitution G A intron_variant PRAD-UK 13 99991256 99991256 single base substitution C G intron_variant PRAD-UK 13 99996840 99996840 insertion of <=200bp - T downstream_gene_variant PRAD-UK 13 99996840 99996840 insertion of <=200bp - T intron_variant PRAD-US 13 99907262 99907262 single base substitution C T intron_variant PRAD-US 13 99948335 99948335 single base substitution T G intron_variant READ-US 13 99896108 99896108 single base substitution G T exon_variant READ-US 13 99896108 99896108 single base substitution G T intron_variant READ-US 13 99896108 99896108 single base substitution G T missense_variant R61I 182G>T READ-US 13 99896108 99896108 single base substitution G T missense_variant R67I 200G>T READ-US 13 99896108 99896108 single base substitution G T upstream_gene_variant RECA-EU 13 100004310 100004310 single base substitution A T intron_variant RECA-EU 13 100022367 100022367 single base substitution C A intron_variant RECA-EU 13 100029075 100029075 single base substitution C T intron_variant RECA-EU 13 100032014 100032014 single base substitution C T downstream_gene_variant RECA-EU 13 100032014 100032014 single base substitution C T intron_variant RECA-EU 13 100039304 100039304 single base substitution T A downstream_gene_variant RECA-EU 13 100039306 100039306 single base substitution C T downstream_gene_variant RECA-EU 13 100042561 100042561 single base substitution A G downstream_gene_variant RECA-EU 13 100043507 100043507 single base substitution T A downstream_gene_variant RECA-EU 13 99850471 99850471 single base substitution G C upstream_gene_variant RECA-EU 13 99854721 99854721 single base substitution T A intron_variant RECA-EU 13 99854728 99854728 single base substitution T G intron_variant RECA-EU 13 99860249 99860249 single base substitution T C intron_variant RECA-EU 13 99880520 99880520 single base substitution G T intron_variant RECA-EU 13 99888510 99888510 single base substitution C T intron_variant RECA-EU 13 99889953 99889953 single base substitution A T intron_variant RECA-EU 13 99920884 99920884 single base substitution A G intron_variant RECA-EU 13 99935264 99935264 single base substitution T G intron_variant RECA-EU 13 99948772 99948772 single base substitution C A intron_variant RECA-EU 13 99952565 99952565 single base substitution A T intron_variant RECA-EU 13 99971717 99971717 single base substitution A C intron_variant RECA-EU 13 99978818 99978818 single base substitution A T intron_variant RECA-EU 13 99982115 99982115 single base substitution A T intron_variant RECA-EU 13 99993234 99993234 single base substitution T C downstream_gene_variant RECA-EU 13 99993234 99993234 single base substitution T C intron_variant RECA-EU 13 99997999 99997999 single base substitution T C intron_variant SKCA-BR 13 100014843 100014843 single base substitution C T intron_variant SKCA-BR 13 100015655 100015655 single base substitution G A intron_variant SKCA-BR 13 100015655 100015655 single base substitution G A upstream_gene_variant SKCA-BR 13 100016720 100016720 single base substitution A G intron_variant SKCA-BR 13 100016720 100016720 single base substitution A G upstream_gene_variant SKCA-BR 13 100017105 100017105 single base substitution A G intron_variant SKCA-BR 13 100017105 100017105 single base substitution A G upstream_gene_variant SKCA-BR 13 100017450 100017450 single base substitution C T intron_variant SKCA-BR 13 100017450 100017450 single base substitution C T upstream_gene_variant SKCA-BR 13 100022824 100022824 single base substitution T C intron_variant SKCA-BR 13 100022825 100022825 single base substitution C T intron_variant SKCA-BR 13 100023239 100023239 single base substitution C T intron_variant SKCA-BR 13 100028055 100028055 insertion of <=200bp - CT intron_variant SKCA-BR 13 100030820 100030820 single base substitution T G downstream_gene_variant SKCA-BR 13 100030820 100030820 single base substitution T G intron_variant SKCA-BR 13 100036955 100036955 single base substitution C T intron_variant SKCA-BR 13 100036956 100036956 single base substitution C T intron_variant SKCA-BR 13 100037070 100037070 single base substitution C T intron_variant SKCA-BR 13 100038048 100038048 single base substitution T G 3_prime_UTR_variant SKCA-BR 13 100038048 100038048 single base substitution T G downstream_gene_variant SKCA-BR 13 100038048 100038048 single base substitution T G exon_variant SKCA-BR 13 100038534 100038534 single base substitution A G 3_prime_UTR_variant SKCA-BR 13 100038534 100038534 single base substitution A G downstream_gene_variant SKCA-BR 13 100038534 100038534 single base substitution A G exon_variant SKCA-BR 13 100038996 100038996 single base substitution G A downstream_gene_variant SKCA-BR 13 100039622 100039622 insertion of <=200bp - GACACACAC downstream_gene_variant SKCA-BR 13 100041565 100041565 single base substitution C T downstream_gene_variant SKCA-BR 13 100041653 100041653 single base substitution A T downstream_gene_variant SKCA-BR 13 100042676 100042676 insertion of <=200bp - CGTGACATGCTAAAGTGGGCTG downstream_gene_variant SKCA-BR 13 99848170 99848170 single base substitution G A upstream_gene_variant SKCA-BR 13 99852444 99852444 single base substitution A C upstream_gene_variant SKCA-BR 13 99852590 99852590 single base substitution G A upstream_gene_variant SKCA-BR 13 99853601 99853601 single base substitution T C 5_prime_UTR_variant SKCA-BR 13 99853601 99853601 single base substitution T C intron_variant SKCA-BR 13 99855269 99855269 single base substitution T C intron_variant SKCA-BR 13 99858765 99858765 single base substitution C T intron_variant SKCA-BR 13 99859083 99859083 single base substitution C T intron_variant SKCA-BR 13 99861230 99861230 single base substitution C T intron_variant SKCA-BR 13 99862732 99862733 deletion of <=200bp CT - intron_variant SKCA-BR 13 99864646 99864646 single base substitution C T intron_variant SKCA-BR 13 99865476 99865476 insertion of <=200bp - AT intron_variant SKCA-BR 13 99867091 99867091 insertion of <=200bp - GTT intron_variant SKCA-BR 13 99871355 99871355 single base substitution G C intron_variant SKCA-BR 13 99875796 99875800 deletion of <=200bp GTTTT - intron_variant SKCA-BR 13 99878428 99878428 single base substitution G C intron_variant SKCA-BR 13 99880661 99880661 single base substitution C T intron_variant SKCA-BR 13 99880662 99880662 single base substitution C T intron_variant SKCA-BR 13 99883660 99883661 deletion of <=200bp AT - intron_variant SKCA-BR 13 99884651 99884651 insertion of <=200bp - GATATATATATATATATATATATAT intron_variant SKCA-BR 13 99884653 99884653 insertion of <=200bp - GAGATAGATATATATATATATAT intron_variant SKCA-BR 13 99884655 99884655 single base substitution T G intron_variant SKCA-BR 13 99889229 99889230 deletion of <=200bp TA - intron_variant SKCA-BR 13 99889519 99889519 insertion of <=200bp - TAC intron_variant SKCA-BR 13 99889525 99889525 insertion of <=200bp - TACACACACAC intron_variant SKCA-BR 13 99889527 99889527 single base substitution C T intron_variant SKCA-BR 13 99894437 99894437 single base substitution C T intron_variant SKCA-BR 13 99894437 99894437 single base substitution C T upstream_gene_variant SKCA-BR 13 99894722 99894722 single base substitution A C intron_variant SKCA-BR 13 99894722 99894722 single base substitution A C upstream_gene_variant SKCA-BR 13 99894999 99894999 single base substitution T C intron_variant SKCA-BR 13 99894999 99894999 single base substitution T C upstream_gene_variant SKCA-BR 13 99895043 99895043 single base substitution C G intron_variant SKCA-BR 13 99895043 99895043 single base substitution C G upstream_gene_variant SKCA-BR 13 99895118 99895118 single base substitution T G intron_variant SKCA-BR 13 99895118 99895118 single base substitution T G upstream_gene_variant SKCA-BR 13 99899331 99899331 single base substitution C A downstream_gene_variant SKCA-BR 13 99899331 99899331 single base substitution C A intron_variant SKCA-BR 13 99900127 99900127 insertion of <=200bp - CTTTT downstream_gene_variant SKCA-BR 13 99900127 99900127 insertion of <=200bp - CTTTT intron_variant SKCA-BR 13 99906399 99906399 single base substitution C T intron_variant SKCA-BR 13 99907022 99907023 deletion of <=200bp AT - intron_variant SKCA-BR 13 99907027 99907027 single base substitution T A intron_variant SKCA-BR 13 99914432 99914432 single base substitution C T intron_variant SKCA-BR 13 99914433 99914433 single base substitution C T intron_variant SKCA-BR 13 99916784 99916784 single base substitution C T intron_variant SKCA-BR 13 99920510 99920510 single base substitution A T intron_variant SKCA-BR 13 99926680 99926680 single base substitution G A intron_variant SKCA-BR 13 99927525 99927525 single base substitution T C intron_variant SKCA-BR 13 99928916 99928916 single base substitution G T intron_variant SKCA-BR 13 99933093 99933093 single base substitution C T intron_variant SKCA-BR 13 99937882 99937882 single base substitution G A intron_variant SKCA-BR 13 99944556 99944556 insertion of <=200bp - AT intron_variant SKCA-BR 13 99944595 99944595 single base substitution A C intron_variant SKCA-BR 13 99955621 99955621 single base substitution T C intron_variant SKCA-BR 13 99955621 99955621 single base substitution T C upstream_gene_variant SKCA-BR 13 99959071 99959071 single base substitution T G intron_variant SKCA-BR 13 99959071 99959071 single base substitution T G upstream_gene_variant SKCA-BR 13 99959075 99959075 single base substitution T A intron_variant SKCA-BR 13 99959075 99959075 single base substitution T A upstream_gene_variant SKCA-BR 13 99959790 99959790 insertion of <=200bp - GT intron_variant SKCA-BR 13 99959790 99959790 insertion of <=200bp - GT upstream_gene_variant SKCA-BR 13 99966921 99966921 single base substitution C T downstream_gene_variant SKCA-BR 13 99966921 99966921 single base substitution C T intron_variant SKCA-BR 13 99966921 99966921 single base substitution C T upstream_gene_variant SKCA-BR 13 99970544 99970544 single base substitution C T downstream_gene_variant SKCA-BR 13 99970544 99970544 single base substitution C T intron_variant SKCA-BR 13 99971075 99971076 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 13 99971075 99971076 deletion of <=200bp CA - intron_variant SKCA-BR 13 99975303 99975303 single base substitution C T intron_variant SKCA-BR 13 99979736 99979736 insertion of <=200bp - CTG intron_variant SKCA-BR 13 99980860 99980860 single base substitution T C intron_variant SKCA-BR 13 99981087 99981087 single base substitution G A intron_variant SKCA-BR 13 99981412 99981412 single base substitution C T intron_variant SKCA-BR 13 99981523 99981523 single base substitution T A intron_variant SKCA-BR 13 99985922 99985922 single base substitution C T intron_variant SKCA-BR 13 99987632 99987633 deletion of <=200bp GT - intron_variant SKCA-BR 13 99988252 99988252 insertion of <=200bp - GA intron_variant SKCA-BR 13 99990205 99990205 single base substitution T A intron_variant SKCA-BR 13 99990284 99990292 deletion of <=200bp ACTTTTTTT - intron_variant SKCA-BR 13 99995788 99995788 single base substitution C T downstream_gene_variant SKCA-BR 13 99995788 99995788 single base substitution C T intron_variant SKCA-BR 13 99995789 99995789 single base substitution C T downstream_gene_variant SKCA-BR 13 99995789 99995789 single base substitution C T intron_variant SKCA-BR 13 99995847 99995847 single base substitution C T downstream_gene_variant SKCA-BR 13 99995847 99995847 single base substitution C T intron_variant SKCA-BR 13 99995848 99995848 single base substitution C T downstream_gene_variant SKCA-BR 13 99995848 99995848 single base substitution C T intron_variant SKCA-BR 13 99996879 99996879 single base substitution C A downstream_gene_variant SKCA-BR 13 99996879 99996879 single base substitution C A intron_variant SKCM-US 13 100020071 100020071 single base substitution C T exon_variant SKCM-US 13 100020071 100020071 single base substitution C T missense_variant P146S 436C>T SKCM-US 13 100020071 100020071 single base substitution C T missense_variant P245S 733C>T SKCM-US 13 100020071 100020071 single base substitution C T missense_variant P280S 838C>T SKCM-US 13 99890718 99890718 single base substitution C A exon_variant SKCM-US 13 99890718 99890718 single base substitution C A missense_variant P65Q 194C>A SKCM-US 13 99890718 99890718 single base substitution C A synonymous_variant P23P 69C>A SKCM-US 13 99890718 99890718 single base substitution C A synonymous_variant P29P 87C>A SKCM-US 13 99890808 99890808 single base substitution G A missense_variant S95N 284G>A SKCM-US 13 99890808 99890808 single base substitution G A splice_region_variant SKCM-US 13 99896180 99896180 single base substitution G T exon_variant SKCM-US 13 99896180 99896180 single base substitution G T intron_variant SKCM-US 13 99896180 99896180 single base substitution G T missense_variant R85I 254G>T SKCM-US 13 99896180 99896180 single base substitution G T missense_variant R91I 272G>T SKCM-US 13 99896180 99896180 single base substitution G T upstream_gene_variant SKCM-US 13 99896856 99896856 single base substitution G C exon_variant SKCM-US 13 99896856 99896856 single base substitution G C intron_variant SKCM-US 13 99896856 99896856 single base substitution G C missense_variant A123P 367G>C SKCM-US 13 99896856 99896856 single base substitution G C missense_variant A129P 385G>C SKCM-US 13 99907258 99907258 single base substitution G A intron_variant SKCM-US 13 99907337 99907337 single base substitution A G intron_variant SKCM-US 13 99907627 99907627 single base substitution G A intron_variant SKCM-US 13 99907671 99907671 single base substitution C T intron_variant SKCM-US 13 99907871 99907871 single base substitution C T intron_variant SKCM-US 13 99907947 99907947 single base substitution A T intron_variant SKCM-US 13 99947367 99947367 single base substitution C T intron_variant SKCM-US 13 99947438 99947438 single base substitution C T intron_variant SKCM-US 13 99947440 99947440 single base substitution C T intron_variant SKCM-US 13 99948140 99948140 single base substitution C T intron_variant SKCM-US 13 99948259 99948259 single base substitution C T intron_variant SKCM-US 13 99966405 99966405 single base substitution C T exon_variant SKCM-US 13 99966405 99966405 single base substitution C T intron_variant SKCM-US 13 99966405 99966405 single base substitution C T synonymous_variant V113V 339C>T SKCM-US 13 99966405 99966405 single base substitution C T synonymous_variant V148V 444C>T SKCM-US 13 99966405 99966405 single base substitution C T upstream_gene_variant SKCM-US 13 99992680 99992680 single base substitution C T exon_variant SKCM-US 13 99992680 99992680 single base substitution C T missense_variant S188F 563C>T SKCM-US 13 99992680 99992680 single base substitution C T missense_variant S223F 668C>T SKCM-US 13 99992680 99992680 single base substitution C T missense_variant S89F 266C>T STAD-US 13 99907196 99907196 single base substitution G A intron_variant STAD-US 13 99908125 99908125 insertion of <=200bp - T intron_variant STAD-US 13 99908126 99908126 insertion of <=200bp - T intron_variant STAD-US 13 99947711 99947711 single base substitution T C intron_variant STAD-US 13 99948218 99948218 single base substitution T A intron_variant STAD-US 13 99966382 99966382 deletion of <=200bp T - exon_variant STAD-US 13 99966382 99966382 deletion of <=200bp T - frameshift_variant F106 STAD-US 13 99966382 99966382 deletion of <=200bp T - frameshift_variant F141 STAD-US 13 99966382 99966382 deletion of <=200bp T - intron_variant STAD-US 13 99966382 99966382 deletion of <=200bp T - upstream_gene_variant STAD-US 13 99966475 99966475 single base substitution G A downstream_gene_variant STAD-US 13 99966475 99966475 single base substitution G A intron_variant STAD-US 13 99966475 99966475 single base substitution G A splice_donor_variant STAD-US 13 99966475 99966475 single base substitution G A upstream_gene_variant STAD-US 13 99992580 99992580 single base substitution G A exon_variant STAD-US 13 99992580 99992580 single base substitution G A missense_variant G155S 463G>A STAD-US 13 99992580 99992580 single base substitution G A missense_variant G190S 568G>A STAD-US 13 99992580 99992580 single base substitution G A missense_variant G56S 166G>A THCA-SA 13 99852952 99852952 single base substitution C T upstream_gene_variant THCA-SA 13 99853225 99853225 single base substitution C G 5_prime_UTR_variant THCA-SA 13 99853225 99853225 single base substitution C G intron_variant THCA-SA 13 99907341 99907341 single base substitution G A intron_variant THCA-SA 13 99946853 99946853 single base substitution C T intron_variant UCEC-US 13 100020080 100020080 single base substitution C T exon_variant UCEC-US 13 100020080 100020080 single base substitution C T missense_variant R149C 445C>T UCEC-US 13 100020080 100020080 single base substitution C T missense_variant R248C 742C>T UCEC-US 13 100020080 100020080 single base substitution C T missense_variant R283C 847C>T UCEC-US 13 100037562 100037562 single base substitution C T exon_variant UCEC-US 13 100037562 100037562 single base substitution C T synonymous_variant V202V 606C>T UCEC-US 13 100037562 100037562 single base substitution C T synonymous_variant V301V 903C>T UCEC-US 13 100037562 100037562 single base substitution C T synonymous_variant V336V 1008C>T UCEC-US 13 99907377 99907377 single base substitution G T intron_variant UCEC-US 13 99907488 99907488 single base substitution A T intron_variant UCEC-US 13 99907531 99907531 single base substitution G T intron_variant UCEC-US 13 99907672 99907672 single base substitution G A intron_variant UCEC-US 13 99947371 99947371 single base substitution T C intron_variant UCEC-US 13 99947399 99947399 single base substitution G T intron_variant UCEC-US 13 99947410 99947410 single base substitution C T intron_variant UCEC-US 13 99947473 99947473 single base substitution G T intron_variant UCEC-US 13 99947534 99947534 single base substitution G T intron_variant UCEC-US 13 99947583 99947583 single base substitution G A intron_variant UCEC-US 13 99947820 99947820 single base substitution G A intron_variant UCEC-US 13 99948103 99948103 single base substitution G A intron_variant UCEC-US 13 99992656 99992656 single base substitution C A exon_variant UCEC-US 13 99992656 99992656 single base substitution C A missense_variant S180Y 539C>A UCEC-US 13 99992656 99992656 single base substitution C A missense_variant S215Y 644C>A UCEC-US 13 99992656 99992656 single base substitution C A missense_variant S81Y 242C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-FW-A3R5-06 COSM3885601 c.563C>T p.S188F Substitution - Missense 13:99340426-99340426 + Pat_06_A COSM5842847 c.339delC p.Q114fs*16 Deletion - Frameshift 13:99314151-99314151 + PD4937a COSM165361 c.714C>G p.I238M Substitution - Missense 13:99367798-99367798 + S02194 COSM5674795 c.822G>A p.Q274Q Substitution - coding silent 13:99367906-99367906 + TCGA-25-1313-01 COSM73176 c.304C>G p.L102V Substitution - Missense 13:99314116-99314116 + CSCC-49-T COSM4505032 c.576C>T p.P192P Substitution - coding silent 13:99340439-99340439 + P04-1421 COSM248173 c.170G>T p.C57F Substitution - Missense 13:99238440-99238440 + 2492721 COSM5722144 c.417C>T p.T139T Substitution - coding silent 13:99318030-99318030 + PD6346a COSM1636909 c.830G>A p.R277Q Substitution - Missense 13:99385235-99385235 + TCGA-AP-A059-01 COSM944955 c.903C>T p.V301V Substitution - coding silent 13:99385308-99385308 + TCGA-29-1710-01 COSM199213 c.757G>A p.V253I Substitution - Missense 13:99367841-99367841 + RK189_C01 COSM1628963 c.703-1G>T p.? Unknown 13:99367786-99367786 + TCGA-EE-A2GH-06 COSM3470243 c.339C>T p.V113V Substitution - coding silent 13:99314151-99314151 + YUGATOR COSM3885601 c.563C>T p.S188F Substitution - Missense 13:99340426-99340426 + YULAN COSM1706948 c.782C>T p.S261F Substitution - Missense 13:99367866-99367866 + TCGA-ER-A195-06 COSM3470233 c.194C>A p.P65Q Substitution - Missense 13:99238464-99238464 + TCGA-DA-A1HV-06 COSM3466847 c.733C>T p.P245S Substitution - Missense 13:99367817-99367817 + SH-0622 COSM5018884 c.223delT p.S75fs*11 Deletion - Frameshift 13:99238493-99238493 + SNUH_G17_S1 COSM3676640 c.262A>C p.T88P Substitution - Missense 13:99238532-99238532 + STC291 COSM5052314 c.628C>T p.Q210* Substitution - Nonsense 13:99340491-99340491 + ESO-1133 COSM1269609 c.583G>A p.E195K Substitution - Missense 13:99340446-99340446 + CSCC-27-T COSM4504371 c.558C>T p.I186I Substitution - coding silent 13:99340421-99340421 + CHEWS018 COSM4576052 c.582C>T p.S194S Substitution - coding silent 13:99340445-99340445 + TCGA-CG-5726-01 COSM1952830 c.463G>A p.G155S Substitution - Missense 13:99340326-99340326 + PT31 COSM5906949 c.205C>T p.P69S Substitution - Missense 13:99238475-99238475 + S02139 COSM5674152 c.678A>T p.Q226H Substitution - Missense 13:99340541-99340541 + TCGA-G7-7502-01 COSM3987498 c.250T>C p.C84R Substitution - Missense 13:99238520-99238520 + 2492723 COSM5722144 c.417C>T p.T139T Substitution - coding silent 13:99318030-99318030 + SNUH_G76_S1 COSM4416486 c.201C>T p.P67P Substitution - coding silent 13:99238471-99238471 + TCGA-EE-A29H-06 COSM3470234 c.284G>A p.S95N Substitution - Missense 13:99238554-99238554 + T3535 COSM4738606 c.369C>A p.S123S Substitution - coding silent 13:99314181-99314181 + 2492720 COSM5722144 c.417C>T p.T139T Substitution - coding silent 13:99318030-99318030 + NCI-H522 COSM1197010 c.23A>G p.Q8R Substitution - Missense 13:99201434-99201434 + STC232 COSM5052313 c.462C>T p.S154S Substitution - coding silent 13:99340325-99340325 + SNU-175 COSM1952832 c.639G>A p.E213E Substitution - coding silent 13:99340502-99340502 + TCGA-B6-A1KN-01 COSM1477359 c.234T>C p.T78T Substitution - coding silent 13:99238504-99238504 + HCT116 COSM2047554 c.704G>A p.G235E Substitution - Missense 13:99367788-99367788 + TCGA-DM-A0XD-01 COSM3688806 c.163C>T p.R55C Substitution - Missense 13:99238433-99238433 + CSCC-31-T COSM4513976 c.852C>T p.S284S Substitution - coding silent 13:99385257-99385257 + WA48 COSM238393 c.622A>C p.R208R Substitution - coding silent 13:99340485-99340485 + T3225 COSM4738607 c.673G>A p.A225T Substitution - Missense 13:99340536-99340536 + LUAD-CHTN-MAD06-00668 COSM358802 c.679G>T p.G227W Substitution - Missense 13:99340542-99340542 + TCGA-BR-4280-01 COSM4049031 c.408+1G>A p.? Unknown 13:99314221-99314221 + STC243 COSM1269609 c.583G>A p.E195K Substitution - Missense 13:99340446-99340446 + TCGA-GD-A3OP-01 COSM1300374 c.550G>C p.E184Q Substitution - Missense 13:99340413-99340413 + U2940 COSM5622095 c.192C>T p.S64S Substitution - coding silent 13:99238462-99238462 + TCGA-66-2756-01 COSM696177 c.814G>A p.E272K Substitution - Missense 13:99367898-99367898 + TCGA-AP-A0LM-01 COSM944954 c.742C>T p.R248C Substitution - Missense 13:99367826-99367826 + TCGA-A6-6780-01 COSM1368212 c.749G>A p.R250Q Substitution - Missense 13:99367833-99367833 + 2492722 COSM5722144 c.417C>T p.T139T Substitution - coding silent 13:99318030-99318030 + TCGA-G3-A3CK-01 COSM4922316 c.98G>A p.G33E Substitution - Missense 13:99201509-99201509 + BD124T COSM5493113 c.904G>A p.A302T Substitution - Missense 13:99385309-99385309 + H522 COSM1197010 c.23A>G p.Q8R Substitution - Missense 13:99201434-99201434 + CSCC-52-T COSM4456786 c.916C>T p.L306L Substitution - coding silent 13:99385321-99385321 + Gp2D COSM4627157 c.759A>G p.V253V Substitution - coding silent 13:99367843-99367843 + TCGA-FV-A4ZP-01 COSM4929414 c.703G>A p.G235R Substitution - Missense 13:99367787-99367787 + TCGA-BS-A0UV-01 COSM949236 c.539C>A p.S180Y Substitution - Missense 13:99340402-99340402 + H_0010B_GD COSM3720626 c.672T>G p.F224L Substitution - Missense 13:99340535-99340535 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.508545 13q32.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A IntronicSNV . c.808-11591C>A 13 100008450 CM C A Missense p.L341M c.1021C>A 13 100037575 CM C G IntronicSNV . c.31+4946C>G 13 99858139 BRCA C G Missense p.I273M c.819C>G 13 100020052 BRCA C G Missense p.L137V c.409C>G 13 99966370 OV C T Missense p.P280S c.838C>T 13 100020071 CM C T Synonymous p.F198F c.594C>T 13 99992606 CM C T Synonymous p.F340F c.1020C>T 13 100037574 CM C T Synonymous p.V148V c.444C>T 13 99966405 CM C T Synonymous p.V310V c.930C>T 13 100037484 CM G A Missense p.E230K c.688G>A 13 99992700 ESCA G A Missense p.E307K c.919G>A 13 100020152 LUSC G A Missense p.E325K c.973G>A 13 100037527 CM G A Missense p.G190S c.568G>A 13 99992580 STAD G A Missense p.G293S c.877G>A 13 100020110 BRCA G A SpliceDonorSNV . c.513+1G>A 13 99966475 STAD G A Synonymous p.Q53Q c.159G>A 13 99890808 CM G C Missense p.E219Q c.655G>C 13 99992667 BLCA G C Missense p.V101L c.301G>C 13 99896790 BRCA GG AA SpliceAcceptorBlockSubstitution . c.808-1_808delinsAA 13 100020040 CM G T IntronicSNV . c.808-11590G>T 13 100008451 LUAD G T Missense p.C59F c.176G>T 13 99896102 LUAD G T Missense p.R85I c.254G>T 13 99896180 CM T A IntronicSNV . c.561+1908T>A 13 99972231 CLL T C Missense p.C37R c.109T>C 13 99890758 BRCA