Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 19 47673134 47673134 + Silent SNP A A G TCGA-OR-A5K9-01A-11D-A29I-10 TCGA-OR-A5K9-11A-11D-A29L-10 g.chr19:47673134A>G c.687A>G c.(685-687)gcA>gcG p.A229A BLCA 19 47646764 47646764 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 g.chr19:47646764C>T c.112C>T c.(112-114)Cgg>Tgg p.R38W BLCA 19 47646784 47646784 + Silent SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 g.chr19:47646784G>A c.132G>A c.(130-132)ttG>ttA p.L44L BLCA 19 47646815 47646815 + Missense_Mutation SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 g.chr19:47646815C>T c.163C>T c.(163-165)Ctc>Ttc p.L55F BLCA 19 47653554 47653554 + Silent SNP C C G TCGA-4Z-AA7R-01A-11D-A391-08 TCGA-4Z-AA7R-10A-01D-A394-08 g.chr19:47653554C>G c.306C>G c.(304-306)ctC>ctG p.L102L BLCA 19 47658465 47658465 + Missense_Mutation SNP A A G TCGA-FD-A6TG-01A-11D-A32B-08 TCGA-FD-A6TG-10A-01D-A329-08 g.chr19:47658465A>G c.622A>G c.(622-624)Aaa>Gaa p.K208E BLCA 19 47673086 47673086 + Silent SNP C C T TCGA-E7-A6MF-01A-12D-A32B-08 TCGA-E7-A6MF-10B-01D-A329-08 g.chr19:47673086C>T c.639C>T c.(637-639)ttC>ttT p.F213F BLCA 19 47700520 47700520 + Missense_Mutation SNP G G T TCGA-GD-A6C6-01A-21D-A31L-08 TCGA-GD-A6C6-10A-01D-A31J-08 g.chr19:47700520G>T c.764G>T c.(763-765)aGa>aTa p.R255I BLCA 19 47706939 47706939 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 g.chr19:47706939C>T c.890C>T c.(889-891)tCc>tTc p.S297F BRCA 19 47634224 47634224 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr19:47634224G>C c.37G>C c.(37-39)Gag>Cag p.E13Q BRCA 19 47653513 47653513 + Nonsense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 g.chr19:47653513C>T c.265C>T c.(265-267)Cga>Tga p.R89* BRCA 19 47706960 47706960 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr19:47706960C>T c.911C>T c.(910-912)gCg>gTg p.A304V CESC 19 47658464 47658464 + Silent SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 g.chr19:47658464C>G c.621C>G c.(619-621)gtC>gtG p.V207V CHOL 19 47712448 47712450 + In_Frame_Del DEL CTT CTT - TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr19:47712448_47712450delCTT c.981_983delCTT c.(979-984)aacttc>aac p.F331del COAD 19 47646784 47646784 + Missense_Mutation SNP G G T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr19:47646784G>T c.132G>T c.(130-132)ttG>ttT p.L44F COAD 19 47653606 47653606 + Missense_Mutation SNP G G A TCGA-AA-3869-01A-01W-0995-10 TCGA-AA-3869-10A-01W-0995-10 g.chr19:47653606G>A c.358G>A c.(358-360)Gag>Aag p.E120K COAD 19 47656215 47656215 + Missense_Mutation SNP A A T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr19:47656215A>T c.445A>T c.(445-447)Aat>Tat p.N149Y COAD 19 47656229 47656229 + Missense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr19:47656229C>A c.459C>A c.(457-459)ttC>ttA p.F153L COAD 19 47658419 47658419 + Silent SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr19:47658419C>T c.576C>T c.(574-576)ccC>ccT p.P192P COAD 19 47673136 47673136 + Missense_Mutation SNP A A T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr19:47673136A>T c.689A>T c.(688-690)aAg>aTg p.K230M COAD 19 47673150 47673150 + Missense_Mutation SNP C C A TCGA-CM-5860-01A-01D-1650-10 TCGA-CM-5860-10A-01D-1650-10 g.chr19:47673150C>A c.703C>A c.(703-705)Cgc>Agc p.R235S COAD 19 47700525 47700525 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr19:47700525C>T c.769C>T c.(769-771)Ccc>Tcc p.P257S COAD 19 47712419 47712419 + Silent SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr19:47712419C>T c.952C>T c.(952-954)Ctg>Ttg p.L318L COADREAD 19 47646784 47646784 + Missense_Mutation SNP G G T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr19:47646784G>T c.132G>T c.(130-132)ttG>ttT p.L44F COADREAD 19 47653606 47653606 + Missense_Mutation SNP G G A TCGA-AA-3869-01A-01W-0995-10 TCGA-AA-3869-10A-01W-0995-10 g.chr19:47653606G>A c.358G>A c.(358-360)Gag>Aag p.E120K COADREAD 19 47656157 47656157 + Silent SNP G G T TCGA-AG-3887-01A-01W-1073-09 TCGA-AG-3887-10A-01W-1073-09 g.chr19:47656157G>T c.387G>T c.(385-387)gtG>gtT p.V129V COADREAD 19 47656215 47656215 + Missense_Mutation SNP A A T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr19:47656215A>T c.445A>T c.(445-447)Aat>Tat p.N149Y COADREAD 19 47656229 47656229 + Missense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr19:47656229C>A c.459C>A c.(457-459)ttC>ttA p.F153L COADREAD 19 47658419 47658419 + Silent SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr19:47658419C>T c.576C>T c.(574-576)ccC>ccT p.P192P COADREAD 19 47673136 47673136 + Missense_Mutation SNP A A T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr19:47673136A>T c.689A>T c.(688-690)aAg>aTg p.K230M COADREAD 19 47673150 47673150 + Missense_Mutation SNP C C A TCGA-CM-5860-01A-01D-1650-10 TCGA-CM-5860-10A-01D-1650-10 g.chr19:47673150C>A c.703C>A c.(703-705)Cgc>Agc p.R235S COADREAD 19 47700525 47700525 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr19:47700525C>T c.769C>T c.(769-771)Ccc>Tcc p.P257S COADREAD 19 47712419 47712419 + Silent SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr19:47712419C>T c.952C>T c.(952-954)Ctg>Ttg p.L318L DLBC 19 47700542 47700542 + Silent SNP T T C TCGA-GR-7353-01A-11D-2210-10 TCGA-GR-7353-10A-01D-2210-10 g.chr19:47700542T>C c.786T>C c.(784-786)taT>taC p.Y262Y ESCA 19 47634198 47634200 + In_Frame_Del DEL AGG AGG - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr19:47634198_47634200delAGG c.11_13delAGG c.(10-15)aaggag>aag p.E6del ESCA 19 47653535 47653535 + Nonsense_Mutation SNP T T A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 g.chr19:47653535T>A c.287T>A c.(286-288)tTg>tAg p.L96* GBM 19 47700626 47700626 + Missense_Mutation SNP C C A TCGA-14-4157-01A-01D-1353-08 TCGA-14-4157-10A-01D-1353-08 g.chr19:47700626C>A c.870C>A c.(868-870)gaC>gaA p.D290E GBMLGG 19 47700626 47700626 + Missense_Mutation SNP C C A TCGA-14-4157-01A-01D-1353-08 TCGA-14-4157-10A-01D-1353-08 g.chr19:47700626C>A c.870C>A c.(868-870)gaC>gaA p.D290E HNSC 19 47653537 47653537 + Missense_Mutation SNP G G C TCGA-CV-A6K1-01A-11D-A31L-08 TCGA-CV-A6K1-10A-01D-A31J-08 g.chr19:47653537G>C c.289G>C c.(289-291)Gag>Cag p.E97Q HNSC 19 47656163 47656163 + Silent SNP G G C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 g.chr19:47656163G>C c.393G>C c.(391-393)ctG>ctC p.L131L HNSC 19 47673077 47673077 + Missense_Mutation SNP G G C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 g.chr19:47673077G>C c.630G>C c.(628-630)aaG>aaC p.K210N HNSC 19 47712512 47712512 + 3'UTR SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr19:47712512C>G KIPAN 19 47646781 47646782 + Frame_Shift_Ins INS - - T TCGA-B0-5695-01A-11D-1534-10 TCGA-B0-5695-11A-01D-1534-10 g.chr19:47646781_47646782insT c.129_130insT c.(130-132)ttgfs p.L44fs KIRC 19 47646781 47646782 + Frame_Shift_Ins INS - - T TCGA-B0-5695-01A-11D-1534-10 TCGA-B0-5695-11A-01D-1534-10 g.chr19:47646781_47646782insT c.129_130insT c.(130-132)ttgfs p.L44fs LUAD 19 47656282 47656282 + Missense_Mutation SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr19:47656282A>G c.512A>G c.(511-513)gAg>gGg p.E171G LUAD 19 47700569 47700569 + Missense_Mutation SNP G G C TCGA-80-5607-01A-31D-1945-08 TCGA-80-5607-10A-01D-1946-08 g.chr19:47700569G>C c.813G>C c.(811-813)caG>caC p.Q271H LUAD 19 47706943 47706943 + Missense_Mutation SNP G G T TCGA-75-5126-01A-01D-1753-08 TCGA-75-5126-10A-01D-1753-08 g.chr19:47706943G>T c.894G>T c.(892-894)gaG>gaT p.E298D LUSC 19 47700589 47700589 + Missense_Mutation SNP A A G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 g.chr19:47700589A>G c.833A>G c.(832-834)gAc>gGc p.D278G OV 19 47673151 47673151 + Missense_Mutation SNP G G A TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 g.chr19:47673151G>A c.704G>A c.(703-705)cGc>cAc p.R235H PAAD 19 47646755 47646755 + Missense_Mutation SNP C C T TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 g.chr19:47646755C>T c.103C>T c.(103-105)Cgg>Tgg p.R35W READ 19 47656157 47656157 + Silent SNP G G T TCGA-AG-3887-01A-01W-1073-09 TCGA-AG-3887-10A-01W-1073-09 g.chr19:47656157G>T c.387G>T c.(385-387)gtG>gtT p.V129V SKCM 19 47646800 47646800 + Missense_Mutation SNP G G A TCGA-D3-A3MU-06A-11D-A21A-08 TCGA-D3-A3MU-10A-01D-A21A-08 g.chr19:47646800G>A c.148G>A c.(148-150)Gaa>Aaa p.E50K SKCM 19 47653513 47653513 + Nonsense_Mutation SNP C C T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 g.chr19:47653513C>T c.265C>T c.(265-267)Cga>Tga p.R89* SKCM 19 47656285 47656285 + Missense_Mutation SNP A A G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr19:47656285A>G c.515A>G c.(514-516)cAt>cGt p.H172R SKCM 19 47673089 47673089 + Silent SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr19:47673089C>T c.642C>T c.(640-642)tgC>tgT p.C214C SKCM 19 47706966 47706966 + Missense_Mutation SNP T T C TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 g.chr19:47706966T>C c.917T>C c.(916-918)gTt>gCt p.V306A

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 19 47646784 47646784 single base substitution G A 3_prime_UTR_variant BLCA-US 19 47646784 47646784 single base substitution G A 5_prime_UTR_variant BLCA-US 19 47646784 47646784 single base substitution G A exon_variant BLCA-US 19 47646784 47646784 single base substitution G A intron_variant BLCA-US 19 47646784 47646784 single base substitution G A synonymous_variant L12L 36G>A BLCA-US 19 47646784 47646784 single base substitution G A synonymous_variant L44L 132G>A BLCA-US 19 47646815 47646815 single base substitution C T 3_prime_UTR_variant BLCA-US 19 47646815 47646815 single base substitution C T 5_prime_UTR_variant BLCA-US 19 47646815 47646815 single base substitution C T exon_variant BLCA-US 19 47646815 47646815 single base substitution C T intron_variant BLCA-US 19 47646815 47646815 single base substitution C T missense_variant L23F 67C>T BLCA-US 19 47646815 47646815 single base substitution C T missense_variant L55F 163C>T BLCA-US 19 47706939 47706939 single base substitution C T 3_prime_UTR_variant BLCA-US 19 47706939 47706939 single base substitution C T intron_variant BLCA-US 19 47706939 47706939 single base substitution C T missense_variant P249S 745C>T BLCA-US 19 47706939 47706939 single base substitution C T missense_variant S123F 368C>T BLCA-US 19 47706939 47706939 single base substitution C T missense_variant S216F 647C>T BLCA-US 19 47706939 47706939 single base substitution C T missense_variant S297F 890C>T BOCA-FR 19 47614805 47614805 single base substitution G T upstream_gene_variant BRCA-EU 19 47612236 47612236 insertion of <=200bp - A upstream_gene_variant BRCA-EU 19 47612353 47612353 deletion of <=200bp T - upstream_gene_variant BRCA-EU 19 47612913 47612913 single base substitution G C upstream_gene_variant BRCA-EU 19 47613383 47613383 single base substitution G C upstream_gene_variant BRCA-EU 19 47615851 47615851 deletion of <=200bp G - upstream_gene_variant BRCA-EU 19 47616807 47616807 single base substitution G T intron_variant BRCA-EU 19 47617216 47617216 single base substitution C T intron_variant BRCA-EU 19 47617554 47617554 single base substitution G C intron_variant BRCA-EU 19 47617594 47617594 single base substitution C G intron_variant BRCA-EU 19 47617703 47617703 insertion of <=200bp - T intron_variant BRCA-EU 19 47617924 47617924 single base substitution G A intron_variant BRCA-EU 19 47622342 47622342 deletion of <=200bp T - intron_variant BRCA-EU 19 47622351 47622351 insertion of <=200bp - T intron_variant BRCA-EU 19 47622386 47622386 single base substitution C T intron_variant BRCA-EU 19 47622546 47622546 deletion of <=200bp T - intron_variant BRCA-EU 19 47626409 47626409 single base substitution C G intron_variant BRCA-EU 19 47626456 47626456 deletion of <=200bp A - intron_variant BRCA-EU 19 47626760 47626760 single base substitution G A intron_variant BRCA-EU 19 47627574 47627574 single base substitution C G intron_variant BRCA-EU 19 47627968 47627968 single base substitution C G intron_variant BRCA-EU 19 47629217 47629217 single base substitution G C intron_variant BRCA-EU 19 47629217 47629217 single base substitution G C upstream_gene_variant BRCA-EU 19 47630352 47630352 single base substitution C T intron_variant BRCA-EU 19 47630352 47630352 single base substitution C T upstream_gene_variant BRCA-EU 19 47631705 47631705 single base substitution G C intron_variant BRCA-EU 19 47631705 47631705 single base substitution G C upstream_gene_variant BRCA-EU 19 47632084 47632084 deletion of <=200bp A - intron_variant BRCA-EU 19 47632084 47632084 deletion of <=200bp A - upstream_gene_variant BRCA-EU 19 47632318 47632318 single base substitution G A intron_variant BRCA-EU 19 47632318 47632318 single base substitution G A upstream_gene_variant BRCA-EU 19 47633065 47633065 single base substitution T C intron_variant BRCA-EU 19 47633065 47633065 single base substitution T C upstream_gene_variant BRCA-EU 19 47633145 47633145 single base substitution C G intron_variant BRCA-EU 19 47633145 47633145 single base substitution C G upstream_gene_variant BRCA-EU 19 47634450 47634450 single base substitution G A intron_variant BRCA-EU 19 47635209 47635209 single base substitution C G intron_variant BRCA-EU 19 47636569 47636569 single base substitution G T intron_variant BRCA-EU 19 47636570 47636570 single base substitution C T intron_variant BRCA-EU 19 47636969 47636969 single base substitution G C intron_variant BRCA-EU 19 47640774 47640774 single base substitution C T intron_variant BRCA-EU 19 47641552 47641552 single base substitution C T intron_variant BRCA-EU 19 47642365 47642365 single base substitution C T intron_variant BRCA-EU 19 47642434 47642434 single base substitution C G intron_variant BRCA-EU 19 47644195 47644195 single base substitution T G intron_variant BRCA-EU 19 47646590 47646590 single base substitution G C intron_variant BRCA-EU 19 47649739 47649739 single base substitution G T intron_variant BRCA-EU 19 47650943 47650943 single base substitution C T intron_variant BRCA-EU 19 47651527 47651527 single base substitution G T intron_variant BRCA-EU 19 47651584 47651584 single base substitution G C intron_variant BRCA-EU 19 47652112 47652112 single base substitution C T intron_variant BRCA-EU 19 47653980 47653980 single base substitution C T intron_variant BRCA-EU 19 47654150 47654150 deletion of <=200bp A - intron_variant BRCA-EU 19 47655359 47655359 single base substitution C G intron_variant BRCA-EU 19 47656190 47656191 deletion of <=200bp TA - 3_prime_UTR_variant BRCA-EU 19 47656190 47656191 deletion of <=200bp TA - exon_variant BRCA-EU 19 47656190 47656191 deletion of <=200bp TA - frameshift_variant VK108 BRCA-EU 19 47656190 47656191 deletion of <=200bp TA - frameshift_variant VK140 BRCA-EU 19 47656190 47656191 deletion of <=200bp TA - frameshift_variant VK36 BRCA-EU 19 47656190 47656191 deletion of <=200bp TA - frameshift_variant VK76 BRCA-EU 19 47656190 47656191 deletion of <=200bp TA - intron_variant BRCA-EU 19 47656358 47656358 single base substitution T A downstream_gene_variant BRCA-EU 19 47656358 47656358 single base substitution T A intron_variant BRCA-EU 19 47657172 47657172 single base substitution C T downstream_gene_variant BRCA-EU 19 47657172 47657172 single base substitution C T intron_variant BRCA-EU 19 47658305 47658305 insertion of <=200bp - T downstream_gene_variant BRCA-EU 19 47658305 47658305 insertion of <=200bp - T intron_variant BRCA-EU 19 47658852 47658852 single base substitution C T downstream_gene_variant BRCA-EU 19 47658852 47658852 single base substitution C T intron_variant BRCA-EU 19 47658895 47658895 single base substitution C T downstream_gene_variant BRCA-EU 19 47658895 47658895 single base substitution C T intron_variant BRCA-EU 19 47660257 47660257 single base substitution G T downstream_gene_variant BRCA-EU 19 47660257 47660257 single base substitution G T intron_variant BRCA-EU 19 47660275 47660275 single base substitution C G downstream_gene_variant BRCA-EU 19 47660275 47660275 single base substitution C G intron_variant BRCA-EU 19 47661880 47661880 single base substitution G A downstream_gene_variant BRCA-EU 19 47661880 47661880 single base substitution G A intron_variant BRCA-EU 19 47663726 47663726 single base substitution A G intron_variant BRCA-EU 19 47664964 47664964 single base substitution G T intron_variant BRCA-EU 19 47665308 47665308 single base substitution C T intron_variant BRCA-EU 19 47666273 47666273 single base substitution A G intron_variant BRCA-EU 19 47667675 47667675 single base substitution T C intron_variant BRCA-EU 19 47670283 47670283 single base substitution G A intron_variant BRCA-EU 19 47670520 47670520 single base substitution A T intron_variant BRCA-EU 19 47670688 47670688 single base substitution G A intron_variant BRCA-EU 19 47671358 47671358 single base substitution G A intron_variant BRCA-EU 19 47671749 47671749 single base substitution C T intron_variant BRCA-EU 19 47672061 47672061 single base substitution A T intron_variant BRCA-EU 19 47672856 47672856 single base substitution C A intron_variant BRCA-EU 19 47674590 47674590 single base substitution G A downstream_gene_variant BRCA-EU 19 47674590 47674590 single base substitution G A intron_variant BRCA-EU 19 47674722 47674722 insertion of <=200bp - T downstream_gene_variant BRCA-EU 19 47674722 47674722 insertion of <=200bp - T intron_variant BRCA-EU 19 47677288 47677288 single base substitution G A downstream_gene_variant BRCA-EU 19 47677288 47677288 single base substitution G A intron_variant BRCA-EU 19 47678095 47678095 single base substitution G A downstream_gene_variant BRCA-EU 19 47678095 47678095 single base substitution G A intron_variant BRCA-EU 19 47678218 47678218 single base substitution G A intron_variant BRCA-EU 19 47681003 47681003 single base substitution G A intron_variant BRCA-EU 19 47681543 47681543 single base substitution G A intron_variant BRCA-EU 19 47683972 47683972 single base substitution C G intron_variant BRCA-EU 19 47685344 47685344 single base substitution G A intron_variant BRCA-EU 19 47686530 47686530 single base substitution G A intron_variant BRCA-EU 19 47687277 47687277 deletion of <=200bp T - intron_variant BRCA-EU 19 47688774 47688774 single base substitution G C intron_variant BRCA-EU 19 47691216 47691216 insertion of <=200bp - AG intron_variant BRCA-EU 19 47692581 47692581 single base substitution G C intron_variant BRCA-EU 19 47692670 47692670 single base substitution G A intron_variant BRCA-EU 19 47693577 47693577 single base substitution C T intron_variant BRCA-EU 19 47694046 47694046 single base substitution G A intron_variant BRCA-EU 19 47694154 47694154 single base substitution C G intron_variant BRCA-EU 19 47694248 47694248 insertion of <=200bp - T intron_variant BRCA-EU 19 47694577 47694577 deletion of <=200bp A - intron_variant BRCA-EU 19 47694887 47694887 single base substitution T C intron_variant BRCA-EU 19 47694996 47694996 single base substitution T A intron_variant BRCA-EU 19 47695448 47695448 single base substitution G A intron_variant BRCA-EU 19 47696060 47696060 single base substitution G C intron_variant BRCA-EU 19 47696434 47696434 single base substitution C A intron_variant BRCA-EU 19 47700943 47700943 single base substitution C G intron_variant BRCA-EU 19 47701955 47701955 single base substitution A G intron_variant BRCA-EU 19 47702227 47702227 single base substitution C G intron_variant BRCA-EU 19 47702566 47702566 single base substitution C T intron_variant BRCA-EU 19 47703000 47703000 single base substitution C A intron_variant BRCA-EU 19 47703831 47703831 single base substitution C G intron_variant BRCA-EU 19 47704215 47704215 single base substitution A T intron_variant BRCA-EU 19 47704308 47704308 insertion of <=200bp - T intron_variant BRCA-EU 19 47704764 47704764 single base substitution G A intron_variant BRCA-EU 19 47704985 47704985 single base substitution G A intron_variant BRCA-EU 19 47705032 47705032 single base substitution A G intron_variant BRCA-EU 19 47705302 47705302 single base substitution G A intron_variant BRCA-EU 19 47707974 47707974 single base substitution C T intron_variant BRCA-EU 19 47708674 47708674 single base substitution G A intron_variant BRCA-EU 19 47710175 47710175 single base substitution C G intron_variant BRCA-EU 19 47712818 47712818 single base substitution G C 3_prime_UTR_variant BRCA-EU 19 47712818 47712818 single base substitution G C downstream_gene_variant BRCA-EU 19 47713302 47713302 single base substitution G T 3_prime_UTR_variant BRCA-EU 19 47713302 47713302 single base substitution G T downstream_gene_variant BRCA-EU 19 47713329 47713329 single base substitution T A 3_prime_UTR_variant BRCA-EU 19 47713329 47713329 single base substitution T A downstream_gene_variant BRCA-EU 19 47714084 47714084 single base substitution T C downstream_gene_variant BRCA-EU 19 47714596 47714596 single base substitution G C downstream_gene_variant BRCA-EU 19 47715443 47715443 single base substitution G A downstream_gene_variant BRCA-EU 19 47717248 47717248 single base substitution G A downstream_gene_variant BRCA-EU 19 47718060 47718060 single base substitution G A downstream_gene_variant BRCA-FR 19 47617924 47617924 single base substitution G A intron_variant BRCA-FR 19 47619194 47619194 single base substitution G C intron_variant BRCA-FR 19 47625739 47625739 single base substitution C A intron_variant BRCA-FR 19 47626409 47626409 single base substitution C G intron_variant BRCA-FR 19 47630352 47630352 single base substitution C T intron_variant BRCA-FR 19 47630352 47630352 single base substitution C T upstream_gene_variant BRCA-FR 19 47636569 47636569 single base substitution G T intron_variant BRCA-FR 19 47636570 47636570 single base substitution C T intron_variant BRCA-FR 19 47660275 47660275 single base substitution C G downstream_gene_variant BRCA-FR 19 47660275 47660275 single base substitution C G intron_variant BRCA-FR 19 47662811 47662811 single base substitution T C downstream_gene_variant BRCA-FR 19 47662811 47662811 single base substitution T C intron_variant BRCA-FR 19 47665308 47665308 single base substitution C T intron_variant BRCA-FR 19 47676735 47676735 single base substitution G A downstream_gene_variant BRCA-FR 19 47676735 47676735 single base substitution G A intron_variant BRCA-FR 19 47680625 47680625 single base substitution T C intron_variant BRCA-FR 19 47681543 47681543 single base substitution G A intron_variant BRCA-FR 19 47692581 47692581 single base substitution G C intron_variant BRCA-FR 19 47693577 47693577 single base substitution C T intron_variant BRCA-FR 19 47697519 47697519 single base substitution A T intron_variant BRCA-FR 19 47704215 47704215 single base substitution A T intron_variant BRCA-FR 19 47707974 47707974 single base substitution C T intron_variant BRCA-FR 19 47710175 47710175 single base substitution C G intron_variant BRCA-UK 19 47631668 47631668 single base substitution C T intron_variant BRCA-UK 19 47631668 47631668 single base substitution C T upstream_gene_variant BRCA-UK 19 47651584 47651584 single base substitution G C intron_variant BRCA-UK 19 47671968 47671968 single base substitution C T intron_variant BRCA-UK 19 47701955 47701955 single base substitution A G intron_variant BRCA-UK 19 47708544 47708544 single base substitution C G intron_variant BRCA-US 19 47634224 47634224 single base substitution G C 5_prime_UTR_variant BRCA-US 19 47634224 47634224 single base substitution G C exon_variant BRCA-US 19 47634224 47634224 single base substitution G C intron_variant BRCA-US 19 47634224 47634224 single base substitution G C missense_variant E13Q 37G>C BRCA-US 19 47653513 47653513 single base substitution C T 3_prime_UTR_variant BRCA-US 19 47653513 47653513 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 19 47653513 47653513 single base substitution C T exon_variant BRCA-US 19 47653513 47653513 single base substitution C T stop_gained R25* 73C>T BRCA-US 19 47653513 47653513 single base substitution C T stop_gained R57* 169C>T BRCA-US 19 47653513 47653513 single base substitution C T stop_gained R89* 265C>T BRCA-US 19 47706960 47706960 single base substitution C T 3_prime_UTR_variant BRCA-US 19 47706960 47706960 single base substitution C T intron_variant BRCA-US 19 47706960 47706960 single base substitution C T missense_variant A130V 389C>T BRCA-US 19 47706960 47706960 single base substitution C T missense_variant A223V 668C>T BRCA-US 19 47706960 47706960 single base substitution C T missense_variant A304V 911C>T BRCA-US 19 47706960 47706960 single base substitution C T missense_variant R256W 766C>T BTCA-JP 19 47683463 47683463 single base substitution G A exon_variant BTCA-JP 19 47683463 47683463 single base substitution G A intron_variant BTCA-JP 19 47706897 47706897 single base substitution G C intron_variant BTCA-JP 19 47712428 47712428 single base substitution C T 3_prime_UTR_variant BTCA-JP 19 47712428 47712428 single base substitution C T missense_variant A249V 746C>T BTCA-JP 19 47712428 47712428 single base substitution C T missense_variant R147W 439C>T BTCA-JP 19 47712428 47712428 single base substitution C T missense_variant R240W 718C>T BTCA-JP 19 47712428 47712428 single base substitution C T missense_variant R321W 961C>T CESC-US 19 47658464 47658464 single base substitution C G 3_prime_UTR_variant CESC-US 19 47658464 47658464 single base substitution C G downstream_gene_variant CESC-US 19 47658464 47658464 single base substitution C G exon_variant CESC-US 19 47658464 47658464 single base substitution C G intron_variant CESC-US 19 47658464 47658464 single base substitution C G synonymous_variant V143V 429C>G CESC-US 19 47658464 47658464 single base substitution C G synonymous_variant V175V 525C>G CESC-US 19 47658464 47658464 single base substitution C G synonymous_variant V207V 621C>G CESC-US 19 47658464 47658464 single base substitution C G synonymous_variant V33V 99C>G CLLE-ES 19 47622337 47622337 single base substitution A G intron_variant CLLE-ES 19 47628502 47628502 single base substitution C A 5_prime_UTR_variant CLLE-ES 19 47628502 47628502 single base substitution C A intron_variant CLLE-ES 19 47680121 47680121 single base substitution A G intron_variant CLLE-ES 19 47680307 47680307 single base substitution A G intron_variant CLLE-ES 19 47695157 47695157 single base substitution A G intron_variant CLLE-ES 19 47714782 47714782 single base substitution G T downstream_gene_variant CLLE-ES 19 47717778 47717778 single base substitution A G downstream_gene_variant COAD-US 19 47656215 47656215 single base substitution A T 3_prime_UTR_variant COAD-US 19 47656215 47656215 single base substitution A T exon_variant COAD-US 19 47656215 47656215 single base substitution A T intron_variant COAD-US 19 47656215 47656215 single base substitution A T missense_variant N117Y 349A>T COAD-US 19 47656215 47656215 single base substitution A T missense_variant N149Y 445A>T COAD-US 19 47656215 47656215 single base substitution A T missense_variant N45Y 133A>T COAD-US 19 47656215 47656215 single base substitution A T missense_variant N85Y 253A>T COAD-US 19 47658419 47658419 single base substitution C T 3_prime_UTR_variant COAD-US 19 47658419 47658419 single base substitution C T downstream_gene_variant COAD-US 19 47658419 47658419 single base substitution C T exon_variant COAD-US 19 47658419 47658419 single base substitution C T intron_variant COAD-US 19 47658419 47658419 single base substitution C T synonymous_variant P128P 384C>T COAD-US 19 47658419 47658419 single base substitution C T synonymous_variant P160P 480C>T COAD-US 19 47658419 47658419 single base substitution C T synonymous_variant P18P 54C>T COAD-US 19 47658419 47658419 single base substitution C T synonymous_variant P192P 576C>T COAD-US 19 47673136 47673136 single base substitution A T 3_prime_UTR_variant COAD-US 19 47673136 47673136 single base substitution A T downstream_gene_variant COAD-US 19 47673136 47673136 single base substitution A T exon_variant COAD-US 19 47673136 47673136 single base substitution A T missense_variant K149M 446A>T COAD-US 19 47673136 47673136 single base substitution A T missense_variant K198M 593A>T COAD-US 19 47673136 47673136 single base substitution A T missense_variant K230M 689A>T COAD-US 19 47673136 47673136 single base substitution A T missense_variant K56M 167A>T COAD-US 19 47700525 47700525 single base substitution C T 3_prime_UTR_variant COAD-US 19 47700525 47700525 single base substitution C T intron_variant COAD-US 19 47700525 47700525 single base substitution C T missense_variant P176S 526C>T COAD-US 19 47700525 47700525 single base substitution C T missense_variant P257S 769C>T COAD-US 19 47700525 47700525 single base substitution C T missense_variant P83S 247C>T COAD-US 19 47700542 47700542 single base substitution T C 3_prime_UTR_variant COAD-US 19 47700542 47700542 single base substitution T C intron_variant COAD-US 19 47700542 47700542 single base substitution T C synonymous_variant Y181Y 543T>C COAD-US 19 47700542 47700542 single base substitution T C synonymous_variant Y262Y 786T>C COAD-US 19 47700542 47700542 single base substitution T C synonymous_variant Y88Y 264T>C COCA-CN 19 47624383 47624383 single base substitution G A intron_variant COCA-CN 19 47653599 47653599 single base substitution G T 3_prime_UTR_variant COCA-CN 19 47653599 47653599 single base substitution G T 5_prime_UTR_variant COCA-CN 19 47653599 47653599 single base substitution G T exon_variant COCA-CN 19 47653599 47653599 single base substitution G T missense_variant K117N 351G>T COCA-CN 19 47653599 47653599 single base substitution G T missense_variant K13N 39G>T COCA-CN 19 47653599 47653599 single base substitution G T missense_variant K53N 159G>T COCA-CN 19 47653599 47653599 single base substitution G T missense_variant K85N 255G>T COCA-CN 19 47683380 47683380 single base substitution T G intron_variant COCA-CN 19 47712359 47712359 single base substitution T C intron_variant COCA-CN 19 47712509 47712509 single base substitution A C 3_prime_UTR_variant COCA-CN 19 47712509 47712509 single base substitution A C missense_variant N276T 827A>C EOPC-DE 19 47624210 47624210 single base substitution C T intron_variant EOPC-DE 19 47630991 47630991 single base substitution C A intron_variant EOPC-DE 19 47630991 47630991 single base substitution C A upstream_gene_variant EOPC-DE 19 47649779 47649779 single base substitution C T intron_variant EOPC-DE 19 47650791 47650791 single base substitution C G intron_variant EOPC-DE 19 47655832 47655832 single base substitution G C intron_variant EOPC-DE 19 47657104 47657104 single base substitution A C downstream_gene_variant EOPC-DE 19 47657104 47657104 single base substitution A C intron_variant EOPC-DE 19 47667164 47667164 single base substitution T C intron_variant EOPC-DE 19 47674987 47674987 single base substitution T C downstream_gene_variant EOPC-DE 19 47674987 47674987 single base substitution T C intron_variant ESAD-UK 19 47612038 47612038 single base substitution A C upstream_gene_variant ESAD-UK 19 47614496 47614496 single base substitution G A upstream_gene_variant ESAD-UK 19 47614618 47614618 single base substitution C G upstream_gene_variant ESAD-UK 19 47615898 47615898 single base substitution C A upstream_gene_variant ESAD-UK 19 47616698 47616698 single base substitution G T 5_prime_UTR_variant ESAD-UK 19 47616698 47616698 single base substitution G T intron_variant ESAD-UK 19 47619557 47619557 single base substitution C T intron_variant ESAD-UK 19 47620770 47620770 single base substitution T A intron_variant ESAD-UK 19 47622382 47622382 single base substitution G A intron_variant ESAD-UK 19 47623118 47623118 single base substitution G A intron_variant ESAD-UK 19 47625064 47625065 deletion of <=200bp GT - intron_variant ESAD-UK 19 47628654 47628654 single base substitution T G intron_variant ESAD-UK 19 47628673 47628673 single base substitution T G intron_variant ESAD-UK 19 47628851 47628851 single base substitution A T intron_variant ESAD-UK 19 47628852 47628852 single base substitution T C intron_variant ESAD-UK 19 47629027 47629027 single base substitution C T intron_variant ESAD-UK 19 47629753 47629753 single base substitution G A intron_variant ESAD-UK 19 47629753 47629753 single base substitution G A upstream_gene_variant ESAD-UK 19 47630262 47630262 single base substitution T C intron_variant ESAD-UK 19 47630262 47630262 single base substitution T C upstream_gene_variant ESAD-UK 19 47630846 47630846 single base substitution C A intron_variant ESAD-UK 19 47630846 47630846 single base substitution C A upstream_gene_variant ESAD-UK 19 47630892 47630892 single base substitution G T intron_variant ESAD-UK 19 47630892 47630892 single base substitution G T upstream_gene_variant ESAD-UK 19 47630910 47630910 single base substitution C A intron_variant ESAD-UK 19 47630910 47630910 single base substitution C A upstream_gene_variant ESAD-UK 19 47631671 47631671 single base substitution C T intron_variant ESAD-UK 19 47631671 47631671 single base substitution C T upstream_gene_variant ESAD-UK 19 47631896 47631896 single base substitution C T intron_variant ESAD-UK 19 47631896 47631896 single base substitution C T upstream_gene_variant ESAD-UK 19 47632096 47632096 single base substitution G C intron_variant ESAD-UK 19 47632096 47632096 single base substitution G C upstream_gene_variant ESAD-UK 19 47633872 47633872 single base substitution C T intron_variant ESAD-UK 19 47633872 47633872 single base substitution C T upstream_gene_variant ESAD-UK 19 47638361 47638361 single base substitution A C intron_variant ESAD-UK 19 47638368 47638377 deletion of <=200bp GTAATAATCA - intron_variant ESAD-UK 19 47640524 47640524 single base substitution A C intron_variant ESAD-UK 19 47640871 47640871 single base substitution C T intron_variant ESAD-UK 19 47641281 47641281 single base substitution C T intron_variant ESAD-UK 19 47641297 47641297 single base substitution A G intron_variant ESAD-UK 19 47641668 47641668 single base substitution G T intron_variant ESAD-UK 19 47642370 47642370 single base substitution G A intron_variant ESAD-UK 19 47643554 47643554 single base substitution A G intron_variant ESAD-UK 19 47646440 47646440 single base substitution G A intron_variant ESAD-UK 19 47646726 47646726 single base substitution C G intron_variant ESAD-UK 19 47650377 47650377 single base substitution G T intron_variant ESAD-UK 19 47656010 47656010 single base substitution A G intron_variant ESAD-UK 19 47656358 47656358 single base substitution T A downstream_gene_variant ESAD-UK 19 47656358 47656358 single base substitution T A intron_variant ESAD-UK 19 47658133 47658133 single base substitution C T downstream_gene_variant ESAD-UK 19 47658133 47658133 single base substitution C T intron_variant ESAD-UK 19 47658575 47658575 single base substitution C T downstream_gene_variant ESAD-UK 19 47658575 47658575 single base substitution C T intron_variant ESAD-UK 19 47658726 47658726 single base substitution T G downstream_gene_variant ESAD-UK 19 47658726 47658726 single base substitution T G intron_variant ESAD-UK 19 47659331 47659331 single base substitution C T downstream_gene_variant ESAD-UK 19 47659331 47659331 single base substitution C T intron_variant ESAD-UK 19 47661064 47661065 deletion of <=200bp CT - downstream_gene_variant ESAD-UK 19 47661064 47661065 deletion of <=200bp CT - intron_variant ESAD-UK 19 47662046 47662046 single base substitution G A downstream_gene_variant ESAD-UK 19 47662046 47662046 single base substitution G A intron_variant ESAD-UK 19 47671077 47671077 deletion of <=200bp T - intron_variant ESAD-UK 19 47671641 47671641 single base substitution G T intron_variant ESAD-UK 19 47672515 47672515 deletion of <=200bp T - intron_variant ESAD-UK 19 47673568 47673568 single base substitution T A downstream_gene_variant ESAD-UK 19 47673568 47673568 single base substitution T A intron_variant ESAD-UK 19 47675161 47675161 insertion of <=200bp - T downstream_gene_variant ESAD-UK 19 47675161 47675161 insertion of <=200bp - T intron_variant ESAD-UK 19 47675958 47675958 deletion of <=200bp A - downstream_gene_variant ESAD-UK 19 47675958 47675958 deletion of <=200bp A - intron_variant ESAD-UK 19 47677115 47677115 single base substitution C T downstream_gene_variant ESAD-UK 19 47677115 47677115 single base substitution C T intron_variant ESAD-UK 19 47677579 47677579 single base substitution T C downstream_gene_variant ESAD-UK 19 47677579 47677579 single base substitution T C intron_variant ESAD-UK 19 47678611 47678611 single base substitution C A intron_variant ESAD-UK 19 47679502 47679502 single base substitution C T intron_variant ESAD-UK 19 47680619 47680620 deletion of <=200bp TT - intron_variant ESAD-UK 19 47680627 47680627 insertion of <=200bp - C intron_variant ESAD-UK 19 47681991 47681991 single base substitution G C intron_variant ESAD-UK 19 47681992 47681992 single base substitution G A intron_variant ESAD-UK 19 47684563 47684563 single base substitution A G intron_variant ESAD-UK 19 47685217 47685217 single base substitution T A intron_variant ESAD-UK 19 47685322 47685322 single base substitution C T intron_variant ESAD-UK 19 47685713 47685713 single base substitution A G intron_variant ESAD-UK 19 47687465 47687465 single base substitution C T intron_variant ESAD-UK 19 47688338 47688338 single base substitution A C intron_variant ESAD-UK 19 47688603 47688603 single base substitution C T intron_variant ESAD-UK 19 47691189 47691189 single base substitution G A intron_variant ESAD-UK 19 47692831 47692831 insertion of <=200bp - A intron_variant ESAD-UK 19 47693268 47693268 single base substitution T A intron_variant ESAD-UK 19 47696784 47696784 single base substitution T A intron_variant ESAD-UK 19 47697292 47697292 single base substitution G A intron_variant ESAD-UK 19 47702881 47702881 single base substitution G A intron_variant ESAD-UK 19 47705324 47705324 single base substitution C T intron_variant ESAD-UK 19 47705648 47705648 single base substitution G A intron_variant ESAD-UK 19 47706086 47706086 single base substitution G T intron_variant ESAD-UK 19 47712027 47712027 single base substitution T C intron_variant ESAD-UK 19 47712855 47712855 single base substitution A T 3_prime_UTR_variant ESAD-UK 19 47712855 47712855 single base substitution A T downstream_gene_variant ESAD-UK 19 47712881 47712881 single base substitution G T 3_prime_UTR_variant ESAD-UK 19 47712881 47712881 single base substitution G T downstream_gene_variant ESAD-UK 19 47712989 47712989 single base substitution A G 3_prime_UTR_variant ESAD-UK 19 47712989 47712989 single base substitution A G downstream_gene_variant ESAD-UK 19 47713466 47713466 single base substitution C T 3_prime_UTR_variant ESAD-UK 19 47713466 47713466 single base substitution C T downstream_gene_variant ESAD-UK 19 47717980 47717980 single base substitution G A downstream_gene_variant ESAD-UK 19 47718331 47718331 single base substitution C T downstream_gene_variant ESCA-CN 19 47656275 47656275 single base substitution C G 3_prime_UTR_variant ESCA-CN 19 47656275 47656275 single base substitution C G downstream_gene_variant ESCA-CN 19 47656275 47656275 single base substitution C G exon_variant ESCA-CN 19 47656275 47656275 single base substitution C G intron_variant ESCA-CN 19 47656275 47656275 single base substitution C G missense_variant L105V 313C>G ESCA-CN 19 47656275 47656275 single base substitution C G missense_variant L137V 409C>G ESCA-CN 19 47656275 47656275 single base substitution C G missense_variant L169V 505C>G ESCA-CN 19 47656275 47656275 single base substitution C G missense_variant L65V 193C>G GBM-US 19 47700626 47700626 single base substitution C A 3_prime_UTR_variant GBM-US 19 47700626 47700626 single base substitution C A intron_variant GBM-US 19 47700626 47700626 single base substitution C A missense_variant D116E 348C>A GBM-US 19 47700626 47700626 single base substitution C A missense_variant D209E 627C>A GBM-US 19 47700626 47700626 single base substitution C A missense_variant D290E 870C>A KIRC-US 19 47646781 47646781 insertion of <=200bp - T 3_prime_UTR_variant KIRC-US 19 47646781 47646781 insertion of <=200bp - T 5_prime_UTR_variant KIRC-US 19 47646781 47646781 insertion of <=200bp - T exon_variant KIRC-US 19 47646781 47646781 insertion of <=200bp - T frameshift_variant G11G? KIRC-US 19 47646781 47646781 insertion of <=200bp - T frameshift_variant G43G? KIRC-US 19 47646781 47646781 insertion of <=200bp - T intron_variant LAML-KR 19 47621090 47621090 single base substitution C G intron_variant LAML-KR 19 47624601 47624601 single base substitution T C intron_variant LAML-KR 19 47627553 47627553 single base substitution T C intron_variant LAML-KR 19 47627573 47627573 single base substitution T G intron_variant LAML-KR 19 47630220 47630220 single base substitution G A intron_variant LAML-KR 19 47630220 47630220 single base substitution G A upstream_gene_variant LAML-KR 19 47658320 47658320 single base substitution T C downstream_gene_variant LAML-KR 19 47658320 47658320 single base substitution T C intron_variant LAML-KR 19 47658482 47658482 single base substitution G A downstream_gene_variant LAML-KR 19 47658482 47658482 single base substitution G A intron_variant LAML-KR 19 47675092 47675092 single base substitution C T downstream_gene_variant LAML-KR 19 47675092 47675092 single base substitution C T intron_variant LAML-KR 19 47700372 47700372 single base substitution A G intron_variant LAML-KR 19 47707767 47707767 single base substitution T C intron_variant LAML-KR 19 47718595 47718595 single base substitution G T downstream_gene_variant LICA-FR 19 47619638 47619638 single base substitution A C intron_variant LICA-FR 19 47623935 47623935 single base substitution C T intron_variant LICA-FR 19 47633062 47633062 insertion of <=200bp - CTTT intron_variant LICA-FR 19 47633062 47633062 insertion of <=200bp - CTTT upstream_gene_variant LICA-FR 19 47659726 47659727 deletion of <=200bp CT - downstream_gene_variant LICA-FR 19 47659726 47659727 deletion of <=200bp CT - intron_variant LICA-FR 19 47662729 47662729 single base substitution A G downstream_gene_variant LICA-FR 19 47662729 47662729 single base substitution A G intron_variant LICA-FR 19 47708578 47708578 deletion of <=200bp T - intron_variant LINC-JP 19 47616097 47616097 insertion of <=200bp - C upstream_gene_variant LINC-JP 19 47632406 47632406 single base substitution C T intron_variant LINC-JP 19 47632406 47632406 single base substitution C T upstream_gene_variant LINC-JP 19 47633001 47633001 deletion of <=200bp T - intron_variant LINC-JP 19 47633001 47633001 deletion of <=200bp T - upstream_gene_variant LINC-JP 19 47633082 47633082 single base substitution T C intron_variant LINC-JP 19 47633082 47633082 single base substitution T C upstream_gene_variant LINC-JP 19 47646217 47646217 single base substitution C T intron_variant LINC-JP 19 47673291 47673291 single base substitution C T downstream_gene_variant LINC-JP 19 47673291 47673291 single base substitution C T intron_variant LINC-JP 19 47685038 47685038 deletion of <=200bp T - intron_variant LINC-JP 19 47699915 47699915 single base substitution G T intron_variant LINC-JP 19 47703750 47703750 single base substitution G T intron_variant LINC-JP 19 47706521 47706521 single base substitution G A intron_variant LIRI-JP 19 47611986 47611986 single base substitution T C upstream_gene_variant LIRI-JP 19 47612907 47612907 single base substitution C A upstream_gene_variant LIRI-JP 19 47613547 47613547 single base substitution G T upstream_gene_variant LIRI-JP 19 47613832 47613832 single base substitution G T upstream_gene_variant LIRI-JP 19 47615110 47615110 single base substitution T C upstream_gene_variant LIRI-JP 19 47616451 47616451 single base substitution C A upstream_gene_variant LIRI-JP 19 47620139 47620139 single base substitution C T intron_variant LIRI-JP 19 47620252 47620252 single base substitution G T intron_variant LIRI-JP 19 47622672 47622672 single base substitution C T intron_variant LIRI-JP 19 47626436 47626436 single base substitution C T intron_variant LIRI-JP 19 47628389 47628389 single base substitution T C 5_prime_UTR_variant LIRI-JP 19 47628389 47628389 single base substitution T C intron_variant LIRI-JP 19 47628673 47628673 single base substitution T G intron_variant LIRI-JP 19 47629260 47629260 single base substitution C A intron_variant LIRI-JP 19 47629260 47629260 single base substitution C A upstream_gene_variant LIRI-JP 19 47633274 47633274 single base substitution A G intron_variant LIRI-JP 19 47633274 47633274 single base substitution A G upstream_gene_variant LIRI-JP 19 47635322 47635322 single base substitution A G intron_variant LIRI-JP 19 47637508 47637508 single base substitution A T intron_variant LIRI-JP 19 47638201 47638201 single base substitution T C intron_variant LIRI-JP 19 47639711 47639711 single base substitution G C intron_variant LIRI-JP 19 47639999 47639999 single base substitution G A intron_variant LIRI-JP 19 47646388 47646388 single base substitution G A intron_variant LIRI-JP 19 47650271 47650271 single base substitution C T intron_variant LIRI-JP 19 47650670 47650670 single base substitution G A intron_variant LIRI-JP 19 47655027 47655027 single base substitution A T intron_variant LIRI-JP 19 47657288 47657288 single base substitution T A downstream_gene_variant LIRI-JP 19 47657288 47657288 single base substitution T A intron_variant LIRI-JP 19 47662718 47662718 single base substitution A T downstream_gene_variant LIRI-JP 19 47662718 47662718 single base substitution A T intron_variant LIRI-JP 19 47666714 47666714 single base substitution G T intron_variant LIRI-JP 19 47667533 47667533 single base substitution C G intron_variant LIRI-JP 19 47667852 47667852 single base substitution C A intron_variant LIRI-JP 19 47671042 47671042 single base substitution G T intron_variant LIRI-JP 19 47673526 47673526 single base substitution G A downstream_gene_variant LIRI-JP 19 47673526 47673526 single base substitution G A intron_variant LIRI-JP 19 47675590 47675590 single base substitution G A downstream_gene_variant LIRI-JP 19 47675590 47675590 single base substitution G A intron_variant LIRI-JP 19 47675705 47675705 single base substitution T G downstream_gene_variant LIRI-JP 19 47675705 47675705 single base substitution T G intron_variant LIRI-JP 19 47676218 47676218 single base substitution T C downstream_gene_variant LIRI-JP 19 47676218 47676218 single base substitution T C intron_variant LIRI-JP 19 47677315 47677315 single base substitution A G downstream_gene_variant LIRI-JP 19 47677315 47677315 single base substitution A G intron_variant LIRI-JP 19 47685411 47685411 single base substitution C A intron_variant LIRI-JP 19 47688959 47688959 single base substitution A G intron_variant LIRI-JP 19 47689328 47689328 single base substitution C A intron_variant LIRI-JP 19 47689488 47689488 single base substitution C T intron_variant LIRI-JP 19 47690395 47690395 single base substitution G T intron_variant LIRI-JP 19 47690676 47690676 single base substitution G A intron_variant LIRI-JP 19 47691781 47691781 single base substitution A T intron_variant LIRI-JP 19 47695208 47695208 single base substitution G A intron_variant LIRI-JP 19 47697714 47697714 single base substitution C T intron_variant LIRI-JP 19 47701876 47701876 single base substitution C G intron_variant LIRI-JP 19 47705601 47705601 single base substitution G T intron_variant LIRI-JP 19 47706136 47706136 single base substitution C G intron_variant LIRI-JP 19 47708306 47708306 single base substitution A G intron_variant LIRI-JP 19 47709029 47709029 single base substitution A G intron_variant LIRI-JP 19 47709508 47709508 single base substitution A G intron_variant LIRI-JP 19 47710911 47710911 insertion of <=200bp - CT intron_variant LIRI-JP 19 47710917 47710917 single base substitution C T intron_variant LIRI-JP 19 47712044 47712044 single base substitution G A intron_variant LIRI-JP 19 47713135 47713135 single base substitution G A 3_prime_UTR_variant LIRI-JP 19 47713135 47713135 single base substitution G A downstream_gene_variant LIRI-JP 19 47715795 47715795 single base substitution A T downstream_gene_variant LIRI-JP 19 47716118 47716118 single base substitution G A downstream_gene_variant LIRI-JP 19 47717144 47717144 single base substitution G A downstream_gene_variant LUSC-KR 19 47615987 47615987 single base substitution G T upstream_gene_variant LUSC-KR 19 47616230 47616230 single base substitution G A upstream_gene_variant LUSC-KR 19 47624596 47624596 single base substitution C T intron_variant LUSC-KR 19 47633036 47633036 single base substitution T C intron_variant LUSC-KR 19 47633036 47633036 single base substitution T C upstream_gene_variant LUSC-KR 19 47636747 47636747 single base substitution G T intron_variant LUSC-KR 19 47646581 47646581 single base substitution C T intron_variant LUSC-KR 19 47652843 47652843 single base substitution C T intron_variant LUSC-KR 19 47653030 47653030 single base substitution A G intron_variant LUSC-KR 19 47653359 47653359 single base substitution T G intron_variant LUSC-KR 19 47656516 47656516 single base substitution A T downstream_gene_variant LUSC-KR 19 47656516 47656516 single base substitution A T intron_variant LUSC-KR 19 47656783 47656783 single base substitution T A downstream_gene_variant LUSC-KR 19 47656783 47656783 single base substitution T A intron_variant LUSC-KR 19 47666876 47666876 single base substitution C G intron_variant LUSC-KR 19 47666977 47666977 single base substitution C T intron_variant LUSC-KR 19 47666983 47666983 single base substitution C G intron_variant LUSC-KR 19 47667329 47667329 single base substitution A T intron_variant LUSC-KR 19 47677060 47677060 single base substitution G T downstream_gene_variant LUSC-KR 19 47677060 47677060 single base substitution G T intron_variant LUSC-KR 19 47681457 47681457 single base substitution G A intron_variant LUSC-KR 19 47691829 47691829 single base substitution G A intron_variant LUSC-KR 19 47707768 47707768 single base substitution T C intron_variant LUSC-KR 19 47711487 47711487 single base substitution C G intron_variant LUSC-US 19 47700589 47700589 single base substitution A G 3_prime_UTR_variant LUSC-US 19 47700589 47700589 single base substitution A G intron_variant LUSC-US 19 47700589 47700589 single base substitution A G missense_variant D104G 311A>G LUSC-US 19 47700589 47700589 single base substitution A G missense_variant D197G 590A>G LUSC-US 19 47700589 47700589 single base substitution A G missense_variant D278G 833A>G MALY-DE 19 47613014 47613014 single base substitution A C upstream_gene_variant MALY-DE 19 47614267 47614267 single base substitution G C upstream_gene_variant MALY-DE 19 47614306 47614306 single base substitution G A upstream_gene_variant MALY-DE 19 47614625 47614625 single base substitution C T upstream_gene_variant MALY-DE 19 47622061 47622061 deletion of <=200bp T - intron_variant MALY-DE 19 47627245 47627245 single base substitution T A intron_variant MALY-DE 19 47631429 47631429 single base substitution C T intron_variant MALY-DE 19 47631429 47631429 single base substitution C T upstream_gene_variant MALY-DE 19 47631914 47631914 single base substitution T A intron_variant MALY-DE 19 47631914 47631914 single base substitution T A upstream_gene_variant MALY-DE 19 47634816 47634816 single base substitution T C intron_variant MALY-DE 19 47638504 47638504 single base substitution T C intron_variant MALY-DE 19 47661157 47661157 single base substitution C T downstream_gene_variant MALY-DE 19 47661157 47661157 single base substitution C T intron_variant MALY-DE 19 47680110 47680110 single base substitution T C intron_variant MALY-DE 19 47686045 47686045 single base substitution G A intron_variant MALY-DE 19 47697992 47697992 single base substitution A G intron_variant MALY-DE 19 47700733 47700733 single base substitution A C intron_variant MALY-DE 19 47701360 47701363 deletion of <=200bp TCTC - intron_variant MALY-DE 19 47701924 47701924 single base substitution T A intron_variant MALY-DE 19 47704507 47704507 single base substitution T A intron_variant MALY-DE 19 47704714 47704714 single base substitution T A intron_variant MALY-DE 19 47710871 47710871 single base substitution C T intron_variant MALY-DE 19 47713615 47713615 single base substitution C A 3_prime_UTR_variant MALY-DE 19 47713615 47713615 single base substitution C A downstream_gene_variant MELA-AU 19 47614029 47614029 single base substitution G A upstream_gene_variant MELA-AU 19 47614282 47614282 single base substitution G A upstream_gene_variant MELA-AU 19 47614327 47614327 single base substitution G A upstream_gene_variant MELA-AU 19 47614530 47614530 single base substitution G A upstream_gene_variant MELA-AU 19 47614615 47614615 single base substitution G A upstream_gene_variant MELA-AU 19 47614746 47614746 single base substitution G A upstream_gene_variant MELA-AU 19 47614930 47614930 single base substitution G A upstream_gene_variant MELA-AU 19 47614975 47614975 single base substitution G T upstream_gene_variant MELA-AU 19 47616101 47616101 single base substitution C T upstream_gene_variant MELA-AU 19 47616875 47616875 single base substitution C T intron_variant MELA-AU 19 47617392 47617392 single base substitution C T intron_variant MELA-AU 19 47618000 47618000 single base substitution C T intron_variant MELA-AU 19 47619100 47619100 single base substitution C T intron_variant MELA-AU 19 47619158 47619158 single base substitution C T intron_variant MELA-AU 19 47619331 47619331 single base substitution A T intron_variant MELA-AU 19 47619640 47619640 single base substitution G A intron_variant MELA-AU 19 47619844 47619844 single base substitution G A intron_variant MELA-AU 19 47619923 47619923 single base substitution C T intron_variant MELA-AU 19 47620119 47620119 single base substitution C T intron_variant MELA-AU 19 47620650 47620650 single base substitution G A intron_variant MELA-AU 19 47620652 47620652 single base substitution G A intron_variant MELA-AU 19 47620865 47620865 single base substitution C T intron_variant MELA-AU 19 47621462 47621462 single base substitution C T intron_variant MELA-AU 19 47621932 47621932 single base substitution C T intron_variant MELA-AU 19 47621984 47621984 single base substitution C T intron_variant MELA-AU 19 47622071 47622071 single base substitution T A intron_variant MELA-AU 19 47622278 47622278 single base substitution C T intron_variant MELA-AU 19 47622303 47622303 single base substitution C T intron_variant MELA-AU 19 47622311 47622311 single base substitution C A intron_variant MELA-AU 19 47622447 47622447 single base substitution C T intron_variant MELA-AU 19 47622705 47622705 single base substitution T A intron_variant MELA-AU 19 47622927 47622927 single base substitution C T intron_variant MELA-AU 19 47623062 47623062 single base substitution C T intron_variant MELA-AU 19 47623170 47623170 single base substitution C T intron_variant MELA-AU 19 47624168 47624168 single base substitution G A intron_variant MELA-AU 19 47624292 47624292 single base substitution C T intron_variant MELA-AU 19 47624788 47624788 single base substitution C T intron_variant MELA-AU 19 47625567 47625567 single base substitution C T intron_variant MELA-AU 19 47625669 47625669 single base substitution C T intron_variant MELA-AU 19 47626337 47626337 single base substitution G A intron_variant MELA-AU 19 47626655 47626655 single base substitution C T intron_variant MELA-AU 19 47626750 47626750 single base substitution G A intron_variant MELA-AU 19 47626750 47626750 single base substitution G T intron_variant MELA-AU 19 47626982 47626982 single base substitution A T intron_variant MELA-AU 19 47627853 47627853 single base substitution C T intron_variant MELA-AU 19 47628196 47628197 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 19 47628212 47628212 single base substitution C T intron_variant MELA-AU 19 47628647 47628647 single base substitution G A intron_variant MELA-AU 19 47628657 47628657 single base substitution C T intron_variant MELA-AU 19 47628674 47628674 single base substitution T G intron_variant MELA-AU 19 47628687 47628688 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 47629326 47629326 single base substitution C A intron_variant MELA-AU 19 47629326 47629326 single base substitution C A upstream_gene_variant MELA-AU 19 47629516 47629516 single base substitution G A intron_variant MELA-AU 19 47629516 47629516 single base substitution G A upstream_gene_variant MELA-AU 19 47629574 47629574 single base substitution G A intron_variant MELA-AU 19 47629574 47629574 single base substitution G A upstream_gene_variant MELA-AU 19 47630364 47630365 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 47630364 47630365 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 19 47630472 47630472 single base substitution G A intron_variant MELA-AU 19 47630472 47630472 single base substitution G A upstream_gene_variant MELA-AU 19 47630488 47630488 single base substitution C T intron_variant MELA-AU 19 47630488 47630488 single base substitution C T upstream_gene_variant MELA-AU 19 47630526 47630526 single base substitution C T intron_variant MELA-AU 19 47630526 47630526 single base substitution C T upstream_gene_variant MELA-AU 19 47630991 47630991 single base substitution C T intron_variant MELA-AU 19 47630991 47630991 single base substitution C T upstream_gene_variant MELA-AU 19 47632072 47632072 single base substitution A G intron_variant MELA-AU 19 47632072 47632072 single base substitution A G upstream_gene_variant MELA-AU 19 47632995 47632995 single base substitution C T intron_variant MELA-AU 19 47632995 47632995 single base substitution C T upstream_gene_variant MELA-AU 19 47632997 47632997 single base substitution C T intron_variant MELA-AU 19 47632997 47632997 single base substitution C T upstream_gene_variant MELA-AU 19 47633015 47633015 single base substitution C T intron_variant MELA-AU 19 47633015 47633015 single base substitution C T upstream_gene_variant MELA-AU 19 47633082 47633082 single base substitution T C intron_variant MELA-AU 19 47633082 47633082 single base substitution T C upstream_gene_variant MELA-AU 19 47633168 47633168 single base substitution G A intron_variant MELA-AU 19 47633168 47633168 single base substitution G A upstream_gene_variant MELA-AU 19 47633391 47633391 single base substitution C A intron_variant MELA-AU 19 47633391 47633391 single base substitution C A upstream_gene_variant MELA-AU 19 47634686 47634686 single base substitution C T intron_variant MELA-AU 19 47635816 47635816 single base substitution G A intron_variant MELA-AU 19 47636444 47636444 single base substitution G A intron_variant MELA-AU 19 47636786 47636786 single base substitution T G intron_variant MELA-AU 19 47637617 47637617 single base substitution G A intron_variant MELA-AU 19 47637867 47637867 single base substitution C T intron_variant MELA-AU 19 47638418 47638418 single base substitution C T intron_variant MELA-AU 19 47639151 47639151 single base substitution C T intron_variant MELA-AU 19 47639183 47639183 single base substitution C T intron_variant MELA-AU 19 47639745 47639745 single base substitution C T intron_variant MELA-AU 19 47640569 47640569 single base substitution C T intron_variant MELA-AU 19 47641232 47641232 single base substitution C T intron_variant MELA-AU 19 47641980 47641980 single base substitution C T intron_variant MELA-AU 19 47642442 47642442 single base substitution C T intron_variant MELA-AU 19 47643237 47643237 single base substitution C T intron_variant MELA-AU 19 47643897 47643897 single base substitution C T intron_variant MELA-AU 19 47644254 47644254 single base substitution C T intron_variant MELA-AU 19 47644350 47644350 single base substitution C T intron_variant MELA-AU 19 47646278 47646278 single base substitution G A intron_variant MELA-AU 19 47647069 47647069 single base substitution C T intron_variant MELA-AU 19 47647224 47647224 single base substitution C T intron_variant MELA-AU 19 47647711 47647711 single base substitution C T intron_variant MELA-AU 19 47647744 47647744 single base substitution C T intron_variant MELA-AU 19 47648484 47648484 single base substitution C T intron_variant MELA-AU 19 47648553 47648553 single base substitution C T intron_variant MELA-AU 19 47648802 47648802 single base substitution C T intron_variant MELA-AU 19 47649233 47649233 single base substitution C T intron_variant MELA-AU 19 47649876 47649876 single base substitution C T intron_variant MELA-AU 19 47649973 47649974 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 47650794 47650794 single base substitution C T intron_variant MELA-AU 19 47651050 47651050 single base substitution C G intron_variant MELA-AU 19 47651218 47651218 single base substitution C T intron_variant MELA-AU 19 47652070 47652070 single base substitution C T intron_variant MELA-AU 19 47652270 47652270 single base substitution T C intron_variant MELA-AU 19 47653159 47653159 single base substitution C T intron_variant MELA-AU 19 47653416 47653416 single base substitution C T intron_variant MELA-AU 19 47653471 47653471 single base substitution G A 3_prime_UTR_variant MELA-AU 19 47653471 47653471 single base substitution G A 5_prime_UTR_variant MELA-AU 19 47653471 47653471 single base substitution G A exon_variant MELA-AU 19 47653471 47653471 single base substitution G A missense_variant D11N 31G>A MELA-AU 19 47653471 47653471 single base substitution G A missense_variant D43N 127G>A MELA-AU 19 47653471 47653471 single base substitution G A missense_variant D75N 223G>A MELA-AU 19 47653559 47653559 single base substitution C T 3_prime_UTR_variant MELA-AU 19 47653559 47653559 single base substitution C T 5_prime_UTR_variant MELA-AU 19 47653559 47653559 single base substitution C T exon_variant MELA-AU 19 47653559 47653559 single base substitution C T missense_variant P104L 311C>T MELA-AU 19 47653559 47653559 single base substitution C T missense_variant P40L 119C>T MELA-AU 19 47653559 47653559 single base substitution C T missense_variant P72L 215C>T MELA-AU 19 47653751 47653751 single base substitution C T intron_variant MELA-AU 19 47653905 47653905 single base substitution C G intron_variant MELA-AU 19 47653955 47653955 single base substitution C T intron_variant MELA-AU 19 47654943 47654943 single base substitution C T intron_variant MELA-AU 19 47656285 47656285 single base substitution A G 3_prime_UTR_variant MELA-AU 19 47656285 47656285 single base substitution A G downstream_gene_variant MELA-AU 19 47656285 47656285 single base substitution A G exon_variant MELA-AU 19 47656285 47656285 single base substitution A G intron_variant MELA-AU 19 47656285 47656285 single base substitution A G missense_variant H108R 323A>G MELA-AU 19 47656285 47656285 single base substitution A G missense_variant H140R 419A>G MELA-AU 19 47656285 47656285 single base substitution A G missense_variant H172R 515A>G MELA-AU 19 47656285 47656285 single base substitution A G missense_variant H68R 203A>G MELA-AU 19 47657627 47657627 single base substitution C T downstream_gene_variant MELA-AU 19 47657627 47657627 single base substitution C T intron_variant MELA-AU 19 47659767 47659767 single base substitution C T downstream_gene_variant MELA-AU 19 47659767 47659767 single base substitution C T intron_variant MELA-AU 19 47660599 47660599 single base substitution G A downstream_gene_variant MELA-AU 19 47660599 47660599 single base substitution G A intron_variant MELA-AU 19 47662374 47662374 single base substitution C T downstream_gene_variant MELA-AU 19 47662374 47662374 single base substitution C T intron_variant MELA-AU 19 47663170 47663170 single base substitution C T downstream_gene_variant MELA-AU 19 47663170 47663170 single base substitution C T intron_variant MELA-AU 19 47663509 47663509 single base substitution C T intron_variant MELA-AU 19 47664028 47664028 single base substitution C T intron_variant MELA-AU 19 47664751 47664751 single base substitution C T intron_variant MELA-AU 19 47664964 47664964 single base substitution G T intron_variant MELA-AU 19 47665277 47665277 single base substitution C T intron_variant MELA-AU 19 47665512 47665512 single base substitution G T intron_variant MELA-AU 19 47665664 47665664 single base substitution C T intron_variant MELA-AU 19 47666764 47666764 single base substitution C T intron_variant MELA-AU 19 47667186 47667186 single base substitution C T intron_variant MELA-AU 19 47668085 47668085 single base substitution A G intron_variant MELA-AU 19 47668382 47668382 single base substitution C T intron_variant MELA-AU 19 47668791 47668791 single base substitution C T intron_variant MELA-AU 19 47668811 47668811 single base substitution C T intron_variant MELA-AU 19 47669034 47669034 single base substitution G A intron_variant MELA-AU 19 47669325 47669325 single base substitution C T intron_variant MELA-AU 19 47669443 47669443 single base substitution T C intron_variant MELA-AU 19 47669560 47669561 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 47670299 47670299 single base substitution C T intron_variant MELA-AU 19 47671062 47671062 single base substitution C T intron_variant MELA-AU 19 47671504 47671504 single base substitution G A intron_variant MELA-AU 19 47671777 47671777 single base substitution C T intron_variant MELA-AU 19 47672311 47672311 single base substitution C T intron_variant MELA-AU 19 47672446 47672446 single base substitution T C intron_variant MELA-AU 19 47672608 47672608 single base substitution T C intron_variant MELA-AU 19 47673854 47673854 single base substitution C T downstream_gene_variant MELA-AU 19 47673854 47673854 single base substitution C T intron_variant MELA-AU 19 47674008 47674008 single base substitution C T downstream_gene_variant MELA-AU 19 47674008 47674008 single base substitution C T intron_variant MELA-AU 19 47674791 47674791 single base substitution C T downstream_gene_variant MELA-AU 19 47674791 47674791 single base substitution C T intron_variant MELA-AU 19 47674825 47674825 single base substitution C G downstream_gene_variant MELA-AU 19 47674825 47674825 single base substitution C G intron_variant MELA-AU 19 47674940 47674940 single base substitution C T downstream_gene_variant MELA-AU 19 47674940 47674940 single base substitution C T intron_variant MELA-AU 19 47675057 47675057 single base substitution A G downstream_gene_variant MELA-AU 19 47675057 47675057 single base substitution A G intron_variant MELA-AU 19 47675201 47675201 single base substitution G A downstream_gene_variant MELA-AU 19 47675201 47675201 single base substitution G A intron_variant MELA-AU 19 47675402 47675402 single base substitution C T downstream_gene_variant MELA-AU 19 47675402 47675402 single base substitution C T intron_variant MELA-AU 19 47676566 47676566 single base substitution C T downstream_gene_variant MELA-AU 19 47676566 47676566 single base substitution C T intron_variant MELA-AU 19 47676712 47676712 single base substitution C T downstream_gene_variant MELA-AU 19 47676712 47676712 single base substitution C T intron_variant MELA-AU 19 47677165 47677165 single base substitution C T downstream_gene_variant MELA-AU 19 47677165 47677165 single base substitution C T intron_variant MELA-AU 19 47677356 47677356 single base substitution C T downstream_gene_variant MELA-AU 19 47677356 47677356 single base substitution C T intron_variant MELA-AU 19 47677860 47677860 single base substitution C T downstream_gene_variant MELA-AU 19 47677860 47677860 single base substitution C T intron_variant MELA-AU 19 47678044 47678044 single base substitution A T downstream_gene_variant MELA-AU 19 47678044 47678044 single base substitution A T intron_variant MELA-AU 19 47678624 47678624 single base substitution C T intron_variant MELA-AU 19 47678707 47678707 single base substitution C T intron_variant MELA-AU 19 47678821 47678821 single base substitution C T intron_variant MELA-AU 19 47679502 47679502 single base substitution C T intron_variant MELA-AU 19 47679521 47679521 single base substitution C T intron_variant MELA-AU 19 47680627 47680627 single base substitution C T intron_variant MELA-AU 19 47680967 47680967 single base substitution C T intron_variant MELA-AU 19 47681248 47681248 single base substitution C T intron_variant MELA-AU 19 47681325 47681325 single base substitution C T intron_variant MELA-AU 19 47681596 47681596 single base substitution C G intron_variant MELA-AU 19 47681985 47681985 single base substitution C T intron_variant MELA-AU 19 47682280 47682280 single base substitution C T intron_variant MELA-AU 19 47682777 47682777 single base substitution A G intron_variant MELA-AU 19 47684247 47684247 single base substitution T C intron_variant MELA-AU 19 47684823 47684823 single base substitution C T intron_variant MELA-AU 19 47684858 47684858 single base substitution C T intron_variant MELA-AU 19 47684859 47684859 single base substitution C T intron_variant MELA-AU 19 47685776 47685776 single base substitution A G intron_variant MELA-AU 19 47686259 47686259 single base substitution G T intron_variant MELA-AU 19 47686890 47686891 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 47686891 47686891 single base substitution C T intron_variant MELA-AU 19 47687453 47687454 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 47687464 47687464 single base substitution C T intron_variant MELA-AU 19 47688435 47688435 single base substitution C T intron_variant MELA-AU 19 47688437 47688437 single base substitution C G intron_variant MELA-AU 19 47688592 47688592 single base substitution T C intron_variant MELA-AU 19 47688605 47688605 single base substitution C T intron_variant MELA-AU 19 47688684 47688684 single base substitution C T intron_variant MELA-AU 19 47688686 47688686 single base substitution C T intron_variant MELA-AU 19 47688863 47688863 single base substitution A T intron_variant MELA-AU 19 47688947 47688947 single base substitution C T intron_variant MELA-AU 19 47689680 47689680 single base substitution G A intron_variant MELA-AU 19 47689726 47689726 single base substitution T C intron_variant MELA-AU 19 47690289 47690289 single base substitution C T intron_variant MELA-AU 19 47690727 47690727 single base substitution T C intron_variant MELA-AU 19 47691121 47691121 single base substitution C A intron_variant MELA-AU 19 47691519 47691519 single base substitution G A intron_variant MELA-AU 19 47693510 47693510 single base substitution C T intron_variant MELA-AU 19 47694062 47694062 single base substitution C T intron_variant MELA-AU 19 47695490 47695490 single base substitution G C intron_variant MELA-AU 19 47695590 47695590 single base substitution C T intron_variant MELA-AU 19 47695891 47695891 single base substitution C T intron_variant MELA-AU 19 47696424 47696424 single base substitution C T intron_variant MELA-AU 19 47696465 47696465 single base substitution C T intron_variant MELA-AU 19 47696911 47696911 single base substitution C T intron_variant MELA-AU 19 47697855 47697855 single base substitution G C intron_variant MELA-AU 19 47698781 47698781 single base substitution G A intron_variant MELA-AU 19 47699080 47699080 single base substitution C T intron_variant MELA-AU 19 47699961 47699961 single base substitution C T intron_variant MELA-AU 19 47700265 47700265 single base substitution C T intron_variant MELA-AU 19 47700407 47700407 single base substitution C T intron_variant MELA-AU 19 47700756 47700756 single base substitution C T intron_variant MELA-AU 19 47700930 47700930 single base substitution C T intron_variant MELA-AU 19 47701253 47701253 single base substitution C T intron_variant MELA-AU 19 47702374 47702374 single base substitution T C intron_variant MELA-AU 19 47702803 47702803 single base substitution C T intron_variant MELA-AU 19 47703218 47703218 single base substitution C T intron_variant MELA-AU 19 47704302 47704302 single base substitution T A intron_variant MELA-AU 19 47704310 47704310 single base substitution T G intron_variant MELA-AU 19 47704317 47704317 single base substitution G T intron_variant MELA-AU 19 47704333 47704333 single base substitution C T intron_variant MELA-AU 19 47705481 47705481 single base substitution C T intron_variant MELA-AU 19 47705869 47705869 single base substitution T C intron_variant MELA-AU 19 47706495 47706495 single base substitution C T intron_variant MELA-AU 19 47707341 47707341 single base substitution C T intron_variant MELA-AU 19 47707424 47707424 single base substitution C T intron_variant MELA-AU 19 47707994 47707994 single base substitution C T intron_variant MELA-AU 19 47708285 47708285 single base substitution C T intron_variant MELA-AU 19 47708450 47708450 single base substitution C T intron_variant MELA-AU 19 47708503 47708503 single base substitution C G intron_variant MELA-AU 19 47709576 47709576 single base substitution C T intron_variant MELA-AU 19 47709927 47709927 single base substitution C T intron_variant MELA-AU 19 47710527 47710527 single base substitution C T intron_variant MELA-AU 19 47711285 47711285 single base substitution C T intron_variant MELA-AU 19 47711378 47711378 single base substitution C T intron_variant MELA-AU 19 47711395 47711395 single base substitution C T intron_variant MELA-AU 19 47711821 47711821 single base substitution C T intron_variant MELA-AU 19 47712017 47712017 single base substitution T C intron_variant MELA-AU 19 47712360 47712360 single base substitution C T intron_variant MELA-AU 19 47712882 47712882 single base substitution T C 3_prime_UTR_variant MELA-AU 19 47712882 47712882 single base substitution T C downstream_gene_variant MELA-AU 19 47713037 47713037 single base substitution C T 3_prime_UTR_variant MELA-AU 19 47713037 47713037 single base substitution C T downstream_gene_variant MELA-AU 19 47714318 47714318 single base substitution C T downstream_gene_variant MELA-AU 19 47714459 47714460 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 19 47717072 47717072 single base substitution C T downstream_gene_variant MELA-AU 19 47717445 47717445 single base substitution C T downstream_gene_variant MELA-AU 19 47717573 47717573 single base substitution G A downstream_gene_variant MELA-AU 19 47718885 47718885 single base substitution G A downstream_gene_variant ORCA-IN 19 47621180 47621180 single base substitution G A intron_variant ORCA-IN 19 47626934 47626934 single base substitution G A intron_variant OV-AU 19 47621607 47621607 single base substitution C G intron_variant OV-AU 19 47621655 47621655 single base substitution G A intron_variant OV-AU 19 47622283 47622283 single base substitution C A intron_variant OV-AU 19 47627970 47627970 single base substitution A G intron_variant OV-AU 19 47642200 47642200 single base substitution A G intron_variant OV-AU 19 47652039 47652039 single base substitution T A intron_variant OV-AU 19 47655662 47655662 single base substitution C G intron_variant OV-AU 19 47657017 47657017 single base substitution G C downstream_gene_variant OV-AU 19 47657017 47657017 single base substitution G C intron_variant OV-AU 19 47662505 47662505 single base substitution G C downstream_gene_variant OV-AU 19 47662505 47662505 single base substitution G C intron_variant OV-AU 19 47663043 47663043 single base substitution T A downstream_gene_variant OV-AU 19 47663043 47663043 single base substitution T A intron_variant OV-AU 19 47665260 47665260 single base substitution A C intron_variant OV-AU 19 47676497 47676497 single base substitution G A downstream_gene_variant OV-AU 19 47676497 47676497 single base substitution G A intron_variant OV-AU 19 47683909 47683909 single base substitution A G intron_variant OV-AU 19 47699513 47699513 single base substitution C G intron_variant OV-AU 19 47701429 47701429 single base substitution C G intron_variant OV-AU 19 47710785 47710785 single base substitution G C intron_variant OV-AU 19 47717957 47717957 single base substitution C T downstream_gene_variant OV-US 19 47673151 47673151 single base substitution G A 3_prime_UTR_variant OV-US 19 47673151 47673151 single base substitution G A downstream_gene_variant OV-US 19 47673151 47673151 single base substitution G A exon_variant OV-US 19 47673151 47673151 single base substitution G A missense_variant R154H 461G>A OV-US 19 47673151 47673151 single base substitution G A missense_variant R203H 608G>A OV-US 19 47673151 47673151 single base substitution G A missense_variant R235H 704G>A OV-US 19 47673151 47673151 single base substitution G A missense_variant R61H 182G>A PACA-AU 19 47611653 47611653 single base substitution G C upstream_gene_variant PACA-AU 19 47613142 47613142 single base substitution C A upstream_gene_variant PACA-AU 19 47616230 47616230 single base substitution G C upstream_gene_variant PACA-AU 19 47618323 47618323 single base substitution C T intron_variant PACA-AU 19 47620982 47620982 single base substitution C T intron_variant PACA-AU 19 47621136 47621136 single base substitution A T intron_variant PACA-AU 19 47624937 47624937 single base substitution G A intron_variant PACA-AU 19 47626662 47626662 single base substitution A G intron_variant PACA-AU 19 47629340 47629340 deletion of <=200bp T - intron_variant PACA-AU 19 47629340 47629340 deletion of <=200bp T - upstream_gene_variant PACA-AU 19 47630647 47630647 single base substitution G A intron_variant PACA-AU 19 47630647 47630647 single base substitution G A upstream_gene_variant PACA-AU 19 47633081 47633081 insertion of <=200bp - TC intron_variant PACA-AU 19 47633081 47633081 insertion of <=200bp - TC upstream_gene_variant PACA-AU 19 47636514 47636514 single base substitution G A intron_variant PACA-AU 19 47638649 47638649 deletion of <=200bp T - intron_variant PACA-AU 19 47640985 47640985 single base substitution T G intron_variant PACA-AU 19 47641961 47641961 single base substitution T A intron_variant PACA-AU 19 47649304 47649304 insertion of <=200bp - G intron_variant PACA-AU 19 47650085 47650085 single base substitution G T intron_variant PACA-AU 19 47651172 47651172 single base substitution C T intron_variant PACA-AU 19 47671479 47671479 deletion of <=200bp T - intron_variant PACA-AU 19 47673384 47673384 deletion of <=200bp T - downstream_gene_variant PACA-AU 19 47673384 47673384 deletion of <=200bp T - intron_variant PACA-AU 19 47673474 47673474 insertion of <=200bp - T downstream_gene_variant PACA-AU 19 47673474 47673474 insertion of <=200bp - T intron_variant PACA-AU 19 47674811 47674811 single base substitution C T downstream_gene_variant PACA-AU 19 47674811 47674811 single base substitution C T intron_variant PACA-AU 19 47683012 47683012 single base substitution G A intron_variant PACA-AU 19 47688415 47688415 insertion of <=200bp - A intron_variant PACA-AU 19 47690986 47690986 single base substitution C T intron_variant PACA-AU 19 47695204 47695204 single base substitution G A intron_variant PACA-AU 19 47697869 47697869 single base substitution G C intron_variant PACA-AU 19 47701462 47701462 single base substitution G T intron_variant PACA-AU 19 47706799 47706799 single base substitution G C intron_variant PACA-AU 19 47708157 47708157 single base substitution C T intron_variant PACA-AU 19 47711615 47711615 single base substitution C G intron_variant PACA-AU 19 47711878 47711878 single base substitution C T intron_variant PACA-AU 19 47713826 47713826 single base substitution C G 3_prime_UTR_variant PACA-AU 19 47713826 47713826 single base substitution C G downstream_gene_variant PACA-AU 19 47714308 47714308 single base substitution C G downstream_gene_variant PACA-AU 19 47718436 47718436 single base substitution C T downstream_gene_variant PACA-CA 19 47612261 47612261 single base substitution A C upstream_gene_variant PACA-CA 19 47612594 47612594 single base substitution G A upstream_gene_variant PACA-CA 19 47612910 47612910 single base substitution T C upstream_gene_variant PACA-CA 19 47617111 47617111 single base substitution A G intron_variant PACA-CA 19 47618182 47618182 single base substitution C T intron_variant PACA-CA 19 47620002 47620002 single base substitution A C intron_variant PACA-CA 19 47624747 47624747 single base substitution G C intron_variant PACA-CA 19 47627168 47627168 single base substitution T C intron_variant PACA-CA 19 47628214 47628214 single base substitution G A intron_variant PACA-CA 19 47629339 47629339 insertion of <=200bp - T intron_variant PACA-CA 19 47629339 47629339 insertion of <=200bp - T upstream_gene_variant PACA-CA 19 47629482 47629482 insertion of <=200bp - T intron_variant PACA-CA 19 47629482 47629482 insertion of <=200bp - T upstream_gene_variant PACA-CA 19 47632190 47632190 single base substitution C T intron_variant PACA-CA 19 47632190 47632190 single base substitution C T upstream_gene_variant PACA-CA 19 47634617 47634617 single base substitution G C intron_variant PACA-CA 19 47639400 47639400 insertion of <=200bp - T intron_variant PACA-CA 19 47641410 47641410 single base substitution C T intron_variant PACA-CA 19 47647708 47647708 single base substitution G A intron_variant PACA-CA 19 47651804 47651804 single base substitution G A intron_variant PACA-CA 19 47655712 47655712 single base substitution G T intron_variant PACA-CA 19 47655835 47655835 insertion of <=200bp - T intron_variant PACA-CA 19 47658656 47658656 single base substitution A G downstream_gene_variant PACA-CA 19 47658656 47658656 single base substitution A G intron_variant PACA-CA 19 47660435 47660435 single base substitution T C downstream_gene_variant PACA-CA 19 47660435 47660435 single base substitution T C intron_variant PACA-CA 19 47664837 47664837 single base substitution G A intron_variant PACA-CA 19 47665841 47665841 single base substitution C T intron_variant PACA-CA 19 47675161 47675161 deletion of <=200bp T - downstream_gene_variant PACA-CA 19 47675161 47675161 deletion of <=200bp T - intron_variant PACA-CA 19 47679900 47679900 single base substitution A C intron_variant PACA-CA 19 47683586 47683586 single base substitution C T intron_variant PACA-CA 19 47685768 47685768 single base substitution G A intron_variant PACA-CA 19 47687614 47687614 single base substitution A G intron_variant PACA-CA 19 47689567 47689567 single base substitution G A intron_variant PACA-CA 19 47692358 47692358 single base substitution G A intron_variant PACA-CA 19 47692830 47692830 insertion of <=200bp - A intron_variant PACA-CA 19 47695128 47695128 single base substitution C T intron_variant PACA-CA 19 47696785 47696785 single base substitution A T intron_variant PACA-CA 19 47696928 47696928 insertion of <=200bp - A intron_variant PACA-CA 19 47697553 47697553 single base substitution T A intron_variant PACA-CA 19 47698797 47698797 single base substitution A G intron_variant PACA-CA 19 47701523 47701523 single base substitution C T intron_variant PACA-CA 19 47701981 47701981 single base substitution C A intron_variant PACA-CA 19 47703635 47703635 single base substitution G A intron_variant PACA-CA 19 47707967 47707967 single base substitution C G intron_variant PACA-CA 19 47716209 47716209 single base substitution C T downstream_gene_variant PACA-CA 19 47717980 47717980 single base substitution G A downstream_gene_variant PAEN-AU 19 47630506 47630506 single base substitution G C intron_variant PAEN-AU 19 47630506 47630506 single base substitution G C upstream_gene_variant PAEN-AU 19 47647560 47647560 single base substitution C T intron_variant PAEN-AU 19 47665203 47665203 single base substitution G C intron_variant PAEN-AU 19 47683254 47683254 single base substitution A T intron_variant PAEN-AU 19 47688059 47688059 single base substitution T G intron_variant PAEN-IT 19 47654881 47654881 single base substitution C T intron_variant PAEN-IT 19 47658049 47658049 single base substitution A C downstream_gene_variant PAEN-IT 19 47658049 47658049 single base substitution A C intron_variant PAEN-IT 19 47663573 47663573 single base substitution G C intron_variant PAEN-IT 19 47665845 47665845 single base substitution C A intron_variant PAEN-IT 19 47703132 47703132 single base substitution C T intron_variant PBCA-DE 19 47615560 47615562 deletion of <=200bp TCC - upstream_gene_variant PBCA-DE 19 47622039 47622039 single base substitution G A intron_variant PBCA-DE 19 47631056 47631056 single base substitution G A intron_variant PBCA-DE 19 47631056 47631056 single base substitution G A upstream_gene_variant PBCA-DE 19 47636954 47636954 single base substitution G C intron_variant PBCA-DE 19 47643189 47643189 deletion of <=200bp A - intron_variant PBCA-DE 19 47650709 47650709 insertion of <=200bp - T intron_variant PBCA-DE 19 47664175 47664175 single base substitution G T intron_variant PBCA-DE 19 47669489 47669489 single base substitution C T intron_variant PBCA-DE 19 47688035 47688035 deletion of <=200bp T - intron_variant PBCA-DE 19 47696238 47696238 single base substitution C T intron_variant PBCA-DE 19 47708060 47708060 single base substitution C T intron_variant PBCA-DE 19 47714404 47714404 single base substitution T G downstream_gene_variant PBCA-DE 19 47714584 47714584 single base substitution T C downstream_gene_variant PRAD-CA 19 47619811 47619811 single base substitution A G intron_variant PRAD-CA 19 47643489 47643489 single base substitution G A intron_variant PRAD-CA 19 47647628 47647628 single base substitution T C intron_variant PRAD-CA 19 47647772 47647772 single base substitution C T intron_variant PRAD-CA 19 47680317 47680317 single base substitution G T intron_variant PRAD-CA 19 47682758 47682758 single base substitution G A intron_variant PRAD-CA 19 47693647 47693647 single base substitution A G intron_variant PRAD-UK 19 47613693 47613693 single base substitution G T upstream_gene_variant PRAD-UK 19 47619443 47619443 single base substitution A T intron_variant PRAD-UK 19 47621048 47621048 single base substitution G A intron_variant PRAD-UK 19 47653982 47653982 single base substitution A T intron_variant PRAD-UK 19 47675169 47675169 single base substitution A T downstream_gene_variant PRAD-UK 19 47675169 47675169 single base substitution A T intron_variant PRAD-UK 19 47690450 47690463 deletion of <=200bp GCCAGAATCAGAGT - intron_variant PRAD-UK 19 47700966 47700966 single base substitution T G intron_variant PRAD-UK 19 47701679 47701679 single base substitution C T intron_variant PRAD-UK 19 47703599 47703599 single base substitution C G intron_variant PRAD-UK 19 47707257 47707257 single base substitution C G intron_variant PRAD-UK 19 47710120 47710120 single base substitution A G intron_variant READ-US 19 47615835 47615835 single base substitution C T upstream_gene_variant RECA-EU 19 47650732 47650732 single base substitution A G intron_variant RECA-EU 19 47669940 47669940 single base substitution C T intron_variant RECA-EU 19 47679691 47679691 single base substitution G T intron_variant RECA-EU 19 47685789 47685789 single base substitution A G intron_variant RECA-EU 19 47687720 47687720 single base substitution T A intron_variant RECA-EU 19 47693518 47693518 single base substitution C T intron_variant RECA-EU 19 47693913 47693913 single base substitution G A intron_variant RECA-EU 19 47694941 47694941 single base substitution C A intron_variant RECA-EU 19 47700047 47700047 single base substitution G C intron_variant SKCA-BR 19 47615944 47615944 single base substitution T G upstream_gene_variant SKCA-BR 19 47616096 47616096 insertion of <=200bp - GC upstream_gene_variant SKCA-BR 19 47617581 47617581 single base substitution T G intron_variant SKCA-BR 19 47618590 47618590 single base substitution G A intron_variant SKCA-BR 19 47621942 47621942 single base substitution C T intron_variant SKCA-BR 19 47623080 47623080 insertion of <=200bp - CT intron_variant SKCA-BR 19 47623269 47623269 single base substitution G A intron_variant SKCA-BR 19 47625085 47625085 insertion of <=200bp - TACAC intron_variant SKCA-BR 19 47625604 47625604 single base substitution C T intron_variant SKCA-BR 19 47626308 47626308 single base substitution G A intron_variant SKCA-BR 19 47626957 47626957 single base substitution C T intron_variant SKCA-BR 19 47629506 47629506 single base substitution C T intron_variant SKCA-BR 19 47629506 47629506 single base substitution C T upstream_gene_variant SKCA-BR 19 47631165 47631165 single base substitution T G intron_variant SKCA-BR 19 47631165 47631165 single base substitution T G upstream_gene_variant SKCA-BR 19 47631349 47631349 single base substitution G A intron_variant SKCA-BR 19 47631349 47631349 single base substitution G A upstream_gene_variant SKCA-BR 19 47631737 47631738 deletion of <=200bp CT - intron_variant SKCA-BR 19 47631737 47631738 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 19 47631913 47631913 single base substitution T A intron_variant SKCA-BR 19 47631913 47631913 single base substitution T A upstream_gene_variant SKCA-BR 19 47633061 47633061 insertion of <=200bp - CCTTT intron_variant SKCA-BR 19 47633061 47633061 insertion of <=200bp - CCTTT upstream_gene_variant SKCA-BR 19 47633082 47633082 single base substitution T C intron_variant SKCA-BR 19 47633082 47633082 single base substitution T C upstream_gene_variant SKCA-BR 19 47634015 47634015 single base substitution C A intron_variant SKCA-BR 19 47634015 47634015 single base substitution C A upstream_gene_variant SKCA-BR 19 47642134 47642134 single base substitution C T intron_variant SKCA-BR 19 47645641 47645642 deletion of <=200bp TA - intron_variant SKCA-BR 19 47649266 47649266 single base substitution T C intron_variant SKCA-BR 19 47649638 47649638 single base substitution C T intron_variant SKCA-BR 19 47649639 47649639 single base substitution C T intron_variant SKCA-BR 19 47654041 47654041 single base substitution C T intron_variant SKCA-BR 19 47661026 47661026 single base substitution C A downstream_gene_variant SKCA-BR 19 47661026 47661026 single base substitution C A intron_variant SKCA-BR 19 47661855 47661855 single base substitution G T downstream_gene_variant SKCA-BR 19 47661855 47661855 single base substitution G T intron_variant SKCA-BR 19 47665006 47665006 single base substitution T C intron_variant SKCA-BR 19 47665540 47665540 single base substitution G A intron_variant SKCA-BR 19 47665541 47665541 single base substitution T A intron_variant SKCA-BR 19 47666772 47666772 single base substitution G A intron_variant SKCA-BR 19 47667753 47667753 single base substitution A T intron_variant SKCA-BR 19 47667770 47667770 single base substitution C T intron_variant SKCA-BR 19 47668896 47668896 single base substitution T G intron_variant SKCA-BR 19 47677550 47677550 single base substitution C T downstream_gene_variant SKCA-BR 19 47677550 47677550 single base substitution C T intron_variant SKCA-BR 19 47678364 47678364 insertion of <=200bp - AT intron_variant SKCA-BR 19 47679665 47679665 single base substitution A G intron_variant SKCA-BR 19 47680109 47680109 single base substitution A T intron_variant SKCA-BR 19 47684269 47684269 single base substitution A T intron_variant SKCA-BR 19 47685721 47685721 insertion of <=200bp - AGTGT intron_variant SKCA-BR 19 47687552 47687552 single base substitution G T intron_variant SKCA-BR 19 47697881 47697881 single base substitution G A intron_variant SKCA-BR 19 47698957 47698957 single base substitution C T intron_variant SKCA-BR 19 47702736 47702736 single base substitution G A intron_variant SKCA-BR 19 47706161 47706161 single base substitution C T intron_variant SKCA-BR 19 47706443 47706443 single base substitution G A intron_variant SKCA-BR 19 47707767 47707767 single base substitution T C intron_variant SKCA-BR 19 47708567 47708567 single base substitution C T intron_variant SKCA-BR 19 47709833 47709833 single base substitution C T intron_variant SKCA-BR 19 47709848 47709849 deletion of <=200bp AG - intron_variant SKCA-BR 19 47712410 47712410 single base substitution C T intron_variant SKCA-BR 19 47715022 47715022 single base substitution T A downstream_gene_variant SKCA-BR 19 47715838 47715838 single base substitution C T downstream_gene_variant SKCM-US 19 47646800 47646800 single base substitution G A 3_prime_UTR_variant SKCM-US 19 47646800 47646800 single base substitution G A 5_prime_UTR_variant SKCM-US 19 47646800 47646800 single base substitution G A exon_variant SKCM-US 19 47646800 47646800 single base substitution G A intron_variant SKCM-US 19 47646800 47646800 single base substitution G A missense_variant E18K 52G>A SKCM-US 19 47646800 47646800 single base substitution G A missense_variant E50K 148G>A SKCM-US 19 47656285 47656285 single base substitution A G 3_prime_UTR_variant SKCM-US 19 47656285 47656285 single base substitution A G downstream_gene_variant SKCM-US 19 47656285 47656285 single base substitution A G exon_variant SKCM-US 19 47656285 47656285 single base substitution A G intron_variant SKCM-US 19 47656285 47656285 single base substitution A G missense_variant H108R 323A>G SKCM-US 19 47656285 47656285 single base substitution A G missense_variant H140R 419A>G SKCM-US 19 47656285 47656285 single base substitution A G missense_variant H172R 515A>G SKCM-US 19 47656285 47656285 single base substitution A G missense_variant H68R 203A>G SKCM-US 19 47673089 47673089 single base substitution C T 3_prime_UTR_variant SKCM-US 19 47673089 47673089 single base substitution C T exon_variant SKCM-US 19 47673089 47673089 single base substitution C T synonymous_variant C133C 399C>T SKCM-US 19 47673089 47673089 single base substitution C T synonymous_variant C150C 450C>T SKCM-US 19 47673089 47673089 single base substitution C T synonymous_variant C182C 546C>T SKCM-US 19 47673089 47673089 single base substitution C T synonymous_variant C214C 642C>T SKCM-US 19 47673089 47673089 single base substitution C T synonymous_variant C40C 120C>T SKCM-US 19 47706966 47706966 single base substitution T C 3_prime_UTR_variant SKCM-US 19 47706966 47706966 single base substitution T C intron_variant SKCM-US 19 47706966 47706966 single base substitution T C missense_variant V132A 395T>C SKCM-US 19 47706966 47706966 single base substitution T C missense_variant V225A 674T>C SKCM-US 19 47706966 47706966 single base substitution T C missense_variant V306A 917T>C SKCM-US 19 47706966 47706966 single base substitution T C synonymous_variant L258L 772T>C STAD-US 19 47700504 47700504 single base substitution C T 3_prime_UTR_variant STAD-US 19 47700504 47700504 single base substitution C T intron_variant STAD-US 19 47700504 47700504 single base substitution C T missense_variant R169C 505C>T STAD-US 19 47700504 47700504 single base substitution C T missense_variant R250C 748C>T STAD-US 19 47700504 47700504 single base substitution C T missense_variant R76C 226C>T STAD-US 19 47700550 47700550 single base substitution A T 3_prime_UTR_variant STAD-US 19 47700550 47700550 single base substitution A T intron_variant STAD-US 19 47700550 47700550 single base substitution A T missense_variant D184V 551A>T STAD-US 19 47700550 47700550 single base substitution A T missense_variant D265V 794A>T STAD-US 19 47700550 47700550 single base substitution A T missense_variant D91V 272A>T STAD-US 19 47712448 47712450 deletion of <=200bp CTT - 3_prime_UTR_variant STAD-US 19 47712448 47712450 deletion of <=200bp CTT - inframe_deletion L256 STAD-US 19 47712448 47712450 deletion of <=200bp CTT - inframe_deletion NF153N STAD-US 19 47712448 47712450 deletion of <=200bp CTT - inframe_deletion NF246N STAD-US 19 47712448 47712450 deletion of <=200bp CTT - inframe_deletion NF327N STAD-US 19 47712468 47712468 single base substitution T C 3_prime_UTR_variant STAD-US 19 47712468 47712468 single base substitution T C missense_variant M160T 479T>C STAD-US 19 47712468 47712468 single base substitution T C missense_variant M253T 758T>C STAD-US 19 47712468 47712468 single base substitution T C missense_variant M334T 1001T>C STAD-US 19 47712468 47712468 single base substitution T C synonymous_variant H262H 786T>C UCEC-US 19 47634241 47634241 single base substitution G A 5_prime_UTR_variant UCEC-US 19 47634241 47634241 single base substitution G A exon_variant UCEC-US 19 47634241 47634241 single base substitution G A intron_variant UCEC-US 19 47634241 47634241 single base substitution G A synonymous_variant Q18Q 54G>A UCEC-US 19 47634280 47634280 single base substitution G T 5_prime_UTR_variant UCEC-US 19 47634280 47634280 single base substitution G T exon_variant UCEC-US 19 47634280 47634280 single base substitution G T intron_variant UCEC-US 19 47634280 47634280 single base substitution G T missense_variant Q31H 93G>T UCEC-US 19 47656226 47656226 single base substitution G T 3_prime_UTR_variant UCEC-US 19 47656226 47656226 single base substitution G T exon_variant UCEC-US 19 47656226 47656226 single base substitution G T intron_variant UCEC-US 19 47656226 47656226 single base substitution G T missense_variant K120N 360G>T UCEC-US 19 47656226 47656226 single base substitution G T missense_variant K152N 456G>T UCEC-US 19 47656226 47656226 single base substitution G T missense_variant K48N 144G>T UCEC-US 19 47656226 47656226 single base substitution G T missense_variant K88N 264G>T UCEC-US 19 47658419 47658419 single base substitution C T 3_prime_UTR_variant UCEC-US 19 47658419 47658419 single base substitution C T downstream_gene_variant UCEC-US 19 47658419 47658419 single base substitution C T exon_variant UCEC-US 19 47658419 47658419 single base substitution C T intron_variant UCEC-US 19 47658419 47658419 single base substitution C T synonymous_variant P128P 384C>T UCEC-US 19 47658419 47658419 single base substitution C T synonymous_variant P160P 480C>T UCEC-US 19 47658419 47658419 single base substitution C T synonymous_variant P18P 54C>T UCEC-US 19 47658419 47658419 single base substitution C T synonymous_variant P192P 576C>T UCEC-US 19 47700573 47700573 single base substitution C T 3_prime_UTR_variant UCEC-US 19 47700573 47700573 single base substitution C T intron_variant UCEC-US 19 47700573 47700573 single base substitution C T stop_gained R192* 574C>T UCEC-US 19 47700573 47700573 single base substitution C T stop_gained R273* 817C>T UCEC-US 19 47700573 47700573 single base substitution C T stop_gained R99* 295C>T UCEC-US 19 47706933 47706933 single base substitution G A 3_prime_UTR_variant UCEC-US 19 47706933 47706933 single base substitution G A intron_variant UCEC-US 19 47706933 47706933 single base substitution G A missense_variant A247T 739G>A UCEC-US 19 47706933 47706933 single base substitution G A missense_variant C121Y 362G>A UCEC-US 19 47706933 47706933 single base substitution G A missense_variant C214Y 641G>A UCEC-US 19 47706933 47706933 single base substitution G A missense_variant C295Y 884G>A UCEC-US 19 47712515 47712515 single base substitution G T 3_prime_UTR_variant UCEC-US 19 47712515 47712515 single base substitution G T missense_variant R278I 833G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AG-3887-01 COSM288572 c.387G>T p.V129V Substitution - coding silent 19:47152900-47152900 + TCGA-DA-A1HY-06 COSM3536283 c.917T>C p.V306A Substitution - Missense 19:47203709-47203709 + TCGA-D1-A17L-01 COSM998683 c.915G>T p.V305V Substitution - coding silent 19:47203707-47203707 + CRC-1 COSM304242 c.172G>A p.A58T Substitution - Missense 19:47143567-47143567 + TCGA-AA-3869-01 COSM296256 c.358G>A p.E120K Substitution - Missense 19:47150349-47150349 + TCGA-EK-A2PM-01 COSM4831434 c.621C>G p.V207V Substitution - coding silent 19:47155207-47155207 + TCGA-D1-A103-01 COSM998676 c.54G>A p.Q18Q Substitution - coding silent 19:47130984-47130984 + TCGA-EE-A3AB-06 COSM3536279 c.515A>G p.H172R Substitution - Missense 19:47153028-47153028 + 587376 COSM1224585 c.455A>C p.K152T Substitution - Missense 19:47152968-47152968 + TCGA-10-0933-01 COSM76329 c.704G>A p.R235H Substitution - Missense 19:47169894-47169894 + TCGA-14-4157-01 COSM3404415 c.870C>A p.D290E Substitution - Missense 19:47197369-47197369 + H358 COSM1194019 c.719A>T p.Y240F Substitution - Missense 19:47169909-47169909 + ESO-859 COSM1240121 c.292C>T p.R98* Substitution - Nonsense 19:47150283-47150283 + TCGA-CA-6717-01 COSM1394875 c.769C>T p.P257S Substitution - Missense 19:47197268-47197268 + ESCC-209T COSM3938195 c.505C>G p.L169V Substitution - Missense 19:47153018-47153018 + TCGA-AC-A23H-01 COSM3823486 c.37G>C p.E13Q Substitution - Missense 19:47130967-47130967 + YURAY COSM1712531 c.727C>T p.L243F Substitution - Missense 19:47169917-47169917 + TCGA-AM-5820-01 COSM3756981 c.786T>C p.Y262Y Substitution - coding silent 19:47197285-47197285 + TCGA-D5-6928-01 COSM998680 c.576C>T p.P192P Substitution - coding silent 19:47155162-47155162 + BD236T COSM5519685 c.961C>T p.R321W Substitution - Missense 19:47209171-47209171 + 259091 COSM3725285 c.175G>A p.G59R Substitution - Missense 19:47143570-47143570 + TCGA-AP-A051-01 COSM998679 c.456G>T p.K152N Substitution - Missense 19:47152969-47152969 + SNUH_G76_S1 COSM4416905 c.875T>C p.V292A Substitution - Missense 19:47197374-47197374 + YULAN COSM1712529 c.163C>T p.L55F Substitution - Missense 19:47143558-47143558 + SC_9027 COSM4723443 c.981_983delCTT p.F331delF Deletion - In frame 19:47209191-47209193 + LS174T COSM4614320 c.473delT p.F159fs*11 Deletion - Frameshift 19:47152986-47152986 + Pat_59_B COSM5856263 c.948+1G>A p.? Unknown 19:47203741-47203741 + TCGA-CA-6717-01 COSM1394868 c.445A>T p.N149Y Substitution - Missense 19:47152958-47152958 + LS180 COSM4614320 c.473delT p.F159fs*11 Deletion - Frameshift 19:47152986-47152986 + TCGA-EW-A1IZ-01 COSM1481268 c.265C>T p.R89* Substitution - Nonsense 19:47150256-47150256 + 4-74-T1 COSM4745744 c.285T>C p.S95S Substitution - coding silent 19:47150276-47150276 + TCGA-HU-A4GN-01 COSM4079693 c.1001T>C p.M334T Substitution - Missense 19:47209211-47209211 + PT41 COSM3797319 c.890C>T p.S297F Substitution - Missense 19:47203682-47203682 + T3094 COSM4723443 c.981_983delCTT p.F331delF Deletion - In frame 19:47209191-47209193 + TCGA-EE-A2MR-06 COSM3536281 c.642C>T p.C214C Substitution - coding silent 19:47169832-47169832 + TCGA-GV-A40G-01 COSM3797317 c.132G>A p.L44L Substitution - coding silent 19:47143527-47143527 + PTC-14C COSM4132186 c.322G>T p.V108L Substitution - Missense 19:47150313-47150313 + TCGA-A6-5661-01 COSM1394871 c.689A>T p.K230M Substitution - Missense 19:47169879-47169879 + TCGA-D3-A3MU-06 COSM3536277 c.148G>A p.E50K Substitution - Missense 19:47143543-47143543 + TCGA-B5-A0JY-01 COSM998677 c.93G>T p.Q31H Substitution - Missense 19:47131023-47131023 + TCGA-AP-A051-01 COSM998680 c.576C>T p.P192P Substitution - coding silent 19:47155162-47155162 + TCGA-GC-A3RD-01 COSM1712529 c.163C>T p.L55F Substitution - Missense 19:47143558-47143558 + PD11369a COSM5802013 c.420_421delTA p.K141fs*2 Deletion - Frameshift 19:47152933-47152934 + YUDUTY COSM1712531 c.727C>T p.L243F Substitution - Missense 19:47169917-47169917 + TCGA-AP-A0LM-01 COSM998681 c.817C>T p.R273* Substitution - Nonsense 19:47197316-47197316 + TCGA-GC-A3YS-01 COSM3797319 c.890C>T p.S297F Substitution - Missense 19:47203682-47203682 + C10 COSM4616518 c.293G>A p.R98Q Substitution - Missense 19:47150284-47150284 + TCGA-D7-8575-01 COSM4079692 c.794A>T p.D265V Substitution - Missense 19:47197293-47197293 + TCGA-37-3783-01 COSM712185 c.833A>G p.D278G Substitution - Missense 19:47197332-47197332 + TCGA-BH-A18G-01 COSM3823488 c.911C>T p.A304V Substitution - Missense 19:47203703-47203703 + CSB34 COSM5028590 c.903A>G p.P301P Substitution - coding silent 19:47203695-47203695 + 587342 COSM1224583 c.949-1G>T p.? Unknown 19:47209158-47209158 + Pat_06_A COSM4723443 c.981_983delCTT p.F331delF Deletion - In frame 19:47209191-47209193 + TCGA-BS-A0UL-01 COSM998682 c.884G>A p.C295Y Substitution - Missense 19:47203676-47203676 + TCGA-HU-A4GN-01 COSM4079691 c.748C>T p.R250C Substitution - Missense 19:47197247-47197247 + TCGA-AX-A06H-01 COSM998678 c.103C>T p.R35W Substitution - Missense 19:47143498-47143498 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.515500 19q13.32 613294 1512236|dbSNP|BC000344|A/C|non-coding||1437|Validated; 1512236|dbSNP|BC003611|A/C|non-coding||1405|Validated; 1512236|dbSNP|BC018271|A/C|non-coding||1444|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AACTGTGGAGGGCCTGGTCACT - IntronicDeletion . c.734-8345_734-8324delAACTGTGGAGGGCCTGGTCACT 19 47692145 CLL A G Missense p.D278G c.833A>G 19 47700589 LUSC A G Missense p.H172R c.515A>G 19 47656285 CM A G Synonymous p.P301P c.903A>G 19 47706952 BRCA C A Missense p.D290E c.870C>A 19 47700626 GBM C T 3-UTRSNV . c.1038+7C>T 19 47712512 CM C T Missense p.A219V c.656C>T 19 47673103 BRCA C T Nonsense p.R98* c.292C>T 19 47653540 ESCA G A Missense p.C295Y c.884G>A 19 47706933 UCEC G A Missense p.E120K c.358G>A 19 47653606 COREAD G A Missense p.E50K c.148G>A 19 47646800 CM G A Missense p.E74K c.220G>A 19 47653468 ALL G A Missense p.E93K c.277G>A 19 47653525 ALL G A Missense p.R235H c.704G>A 19 47673151 OV G A Synonymous p.A304A c.912G>A 19 47706961 STAD G C Missense p.K210N c.630G>C 19 47673077 HNSC G T Missense p.E298D c.894G>T 19 47706943 LUAD G T Nonsense p.E116* c.346G>T 19 47653594 ALL G T Synonymous p.V129V c.387G>T 19 47656157 COREAD T C 3-UTRSNV . c.1038+1T>C 19 47712506 CM T C Missense p.V306A c.917T>C 19 47706966 CM - T Frameshift p.L44Ffs*7 c.131dupT 19 47646782 RCCC