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 4361787 4361787 + Missense_Mutation SNP A A C TCGA-OR-A5LO-01A-11D-A29I-10 TCGA-OR-A5LO-10A-01D-A29L-10 g.chr19:4361787A>C c.917T>G c.(916-918)cTg>cGg p.L306R BLCA 19 4361642 4361642 + Silent SNP G G A TCGA-XF-AAN0-01A-11D-A42E-08 TCGA-XF-AAN0-10A-01D-A42H-08 g.chr19:4361642G>A c.1062C>T c.(1060-1062)ttC>ttT p.F354F BLCA 19 4361657 4361657 + Missense_Mutation SNP G G C TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 g.chr19:4361657G>C c.1047C>G c.(1045-1047)gaC>gaG p.D349E BLCA 19 4361711 4361711 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 g.chr19:4361711G>A c.993C>T c.(991-993)gaC>gaT p.D331D BLCA 19 4362347 4362347 + Missense_Mutation SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 g.chr19:4362347G>A c.889C>T c.(889-891)Cgg>Tgg p.R297W BLCA 19 4362650 4362650 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 g.chr19:4362650G>A c.812C>T c.(811-813)tCc>tTc p.S271F BLCA 19 4363777 4363777 + Missense_Mutation SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 g.chr19:4363777C>G c.564G>C c.(562-564)gaG>gaC p.E188D BLCA 19 4363777 4363777 + Silent SNP C C T TCGA-FD-A62P-01A-32D-A30E-08 TCGA-FD-A62P-10A-01D-A30H-08 g.chr19:4363777C>T c.564G>A c.(562-564)gaG>gaA p.E188E BLCA 19 4363857 4363857 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 g.chr19:4363857C>T c.484G>A c.(484-486)Gag>Aag p.E162K BLCA 19 4364106 4364106 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 g.chr19:4364106C>T c.444G>A c.(442-444)gaG>gaA p.E148E BLCA 19 4364174 4364174 + Missense_Mutation SNP C C T TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr19:4364174C>T c.376G>A c.(376-378)Gag>Aag p.E126K BLCA 19 4365533 4365533 + Silent SNP G G A TCGA-XF-AAN0-01A-11D-A42E-08 TCGA-XF-AAN0-10A-01D-A42H-08 g.chr19:4365533G>A c.277C>T c.(277-279)Ctg>Ttg p.L93L BLCA 19 4366967 4366967 + Missense_Mutation SNP C C A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 g.chr19:4366967C>A c.70G>T c.(70-72)Gcc>Tcc p.A24S BRCA 19 4363740 4363741 + Frame_Shift_Ins INS - - G TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 g.chr19:4363740_4363741insG c.600_601insC c.(598-603)agcatgfs p.M201fs BRCA 19 4364180 4364181 + Frame_Shift_Del DEL GG GG - TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 g.chr19:4364180_4364181delGG c.369_370delCC c.(367-372)cgcctgfs p.L124fs BRCA 19 4364183 4364183 + Frame_Shift_Del DEL G G - TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 g.chr19:4364183delG c.367delC c.(367-369)cgcfs p.R123fs BRCA 19 4365582 4365582 + Missense_Mutation SNP C C A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr19:4365582C>A c.228G>T c.(226-228)aaG>aaT p.K76N CESC 19 4361723 4361723 + Silent SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 g.chr19:4361723G>A c.981C>T c.(979-981)ttC>ttT p.F327F CESC 19 4362348 4362348 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr19:4362348G>C c.888C>G c.(886-888)atC>atG p.I296M CESC 19 4362616 4362616 + Missense_Mutation SNP C C G TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 g.chr19:4362616C>G c.846G>C c.(844-846)aaG>aaC p.K282N CESC 19 4364097 4364097 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 g.chr19:4364097C>T c.453G>A c.(451-453)ctG>ctA p.L151L CHOL 19 4362634 4362634 + Silent SNP G G C TCGA-3X-AAVC-01A-21D-A417-09 TCGA-3X-AAVC-10A-01D-A41A-09 g.chr19:4362634G>C c.828C>G c.(826-828)ccC>ccG p.P276P COAD 19 4362335 4362335 + Missense_Mutation SNP G G A TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr19:4362335G>A c.901C>T c.(901-903)Cgg>Tgg p.R301W COAD 19 4363771 4363771 + Silent SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr19:4363771G>A c.570C>T c.(568-570)ttC>ttT p.F190F COAD 19 4365528 4365528 + Silent SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr19:4365528G>A c.282C>T c.(280-282)ggC>ggT p.G94G COAD 19 4365618 4365618 + Silent SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr19:4365618C>T c.192G>A c.(190-192)tcG>tcA p.S64S COAD 19 4366524 4366524 + Missense_Mutation SNP G G A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr19:4366524G>A c.161C>T c.(160-162)aCc>aTc p.T54I COAD 19 4366964 4366964 + Missense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr19:4366964C>T c.73G>A c.(73-75)Gag>Aag p.E25K COADREAD 19 4362335 4362335 + Missense_Mutation SNP G G A TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr19:4362335G>A c.901C>T c.(901-903)Cgg>Tgg p.R301W COADREAD 19 4362366 4362366 + Silent SNP T T C TCGA-DY-A1DG-01A-11D-A152-10 TCGA-DY-A1DG-10A-01D-A152-10 g.chr19:4362366T>C c.870A>G c.(868-870)cgA>cgG p.R290R COADREAD 19 4363771 4363771 + Silent SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr19:4363771G>A c.570C>T c.(568-570)ttC>ttT p.F190F COADREAD 19 4365528 4365528 + Silent SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr19:4365528G>A c.282C>T c.(280-282)ggC>ggT p.G94G COADREAD 19 4365618 4365618 + Silent SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr19:4365618C>T c.192G>A c.(190-192)tcG>tcA p.S64S COADREAD 19 4366524 4366524 + Missense_Mutation SNP G G A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr19:4366524G>A c.161C>T c.(160-162)aCc>aTc p.T54I COADREAD 19 4366964 4366964 + Missense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr19:4366964C>T c.73G>A c.(73-75)Gag>Aag p.E25K ESCA 19 4361666 4361666 + Silent SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 g.chr19:4361666G>A c.1038C>T c.(1036-1038)ggC>ggT p.G346G ESCA 19 4361753 4361753 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr19:4361753G>A c.951C>T c.(949-951)ttC>ttT p.F317F ESCA 19 4363467 4363467 + Nonsense_Mutation SNP C C A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 g.chr19:4363467C>A c.628G>T c.(628-630)Gag>Tag p.E210* HNSC 19 4363716 4363716 + Splice_Site SNP C C A TCGA-KU-A66T-01A-11D-A30E-08 TCGA-KU-A66T-10A-01D-A30H-08 g.chr19:4363716C>A c.e6+1 HNSC 19 4365608 4365608 + Silent SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 g.chr19:4365608G>A c.202C>T c.(202-204)Ctg>Ttg p.L68L HNSC 19 4366921 4366921 + Splice_Site SNP A A G TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 g.chr19:4366921A>G c.e2+1 KIPAN 19 4363420 4363420 + Silent SNP G G A TCGA-AK-3461-01A-02D-1361-10 TCGA-AK-3461-10A-01D-1361-10 g.chr19:4363420G>A c.675C>T c.(673-675)taC>taT p.Y225Y KIPAN 19 4363421 4363421 + Missense_Mutation SNP T T C TCGA-AK-3428-01A-02D-1361-10 TCGA-AK-3428-10A-01D-1361-10 g.chr19:4363421T>C c.674A>G c.(673-675)tAc>tGc p.Y225C KIRC 19 4363420 4363420 + Silent SNP G G A TCGA-AK-3461-01A-02D-1361-10 TCGA-AK-3461-10A-01D-1361-10 g.chr19:4363420G>A c.675C>T c.(673-675)taC>taT p.Y225Y KIRC 19 4363421 4363421 + Missense_Mutation SNP T T C TCGA-AK-3428-01A-02D-1361-10 TCGA-AK-3428-10A-01D-1361-10 g.chr19:4363421T>C c.674A>G c.(673-675)tAc>tGc p.Y225C LIHC 19 4361758 4361758 + Missense_Mutation SNP C C G TCGA-DD-A113-01A-11D-A12Z-10 TCGA-DD-A113-10A-01D-A12Z-10 g.chr19:4361758C>G c.946G>C c.(946-948)Gac>Cac p.D316H LIHC 19 4364123 4364123 + Frame_Shift_Del DEL G G - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr19:4364123delG c.427delC c.(427-429)ctcfs p.L143fs LIHC 19 4366971 4366971 + Silent SNP T T A TCGA-CC-A7IE-01A-21D-A382-10 TCGA-CC-A7IE-10A-01D-A385-10 g.chr19:4366971T>A c.66A>T c.(64-66)ggA>ggT p.G22G LUSC 19 4361705 4361705 + Missense_Mutation SNP G G C TCGA-66-2773-01A-01D-1267-08 TCGA-66-2773-11A-01D-1267-08 g.chr19:4361705G>C c.999C>G c.(997-999)atC>atG p.I333M LUSC 19 4366964 4366964 + Nonsense_Mutation SNP C C A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 g.chr19:4366964C>A c.73G>T c.(73-75)Gag>Tag p.E25* OV 19 4362368 4362368 + Nonsense_Mutation SNP G G A TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 g.chr19:4362368G>A c.868C>T c.(868-870)Cga>Tga p.R290* PAAD 19 4400336 4400336 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:4400336G>A c.30C>T c.(28-30)ttC>ttT p.F10F PRAD 19 4366548 4366548 + Missense_Mutation SNP G G A TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 g.chr19:4366548G>A c.137C>T c.(136-138)gCg>gTg p.A46V READ 19 4362366 4362366 + Silent SNP T T C TCGA-DY-A1DG-01A-11D-A152-10 TCGA-DY-A1DG-10A-01D-A152-10 g.chr19:4362366T>C c.870A>G c.(868-870)cgA>cgG p.R290R SKCM 19 4361744 4361744 + Silent SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr19:4361744C>T c.960G>A c.(958-960)gaG>gaA p.E320E SKCM 19 4363385 4363385 + Missense_Mutation SNP G G A TCGA-D9-A6E9-06A-12D-A30X-08 TCGA-D9-A6E9-10A-01D-A30X-08 g.chr19:4363385G>A c.710C>T c.(709-711)gCg>gTg p.A237V SKCM 19 4363408 4363408 + Silent SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr19:4363408G>A c.687C>T c.(685-687)gcC>gcT p.A229A SKCM 19 4363800 4363800 + Missense_Mutation SNP C C T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 g.chr19:4363800C>T c.541G>A c.(541-543)Gag>Aag p.E181K SKCM 19 4363869 4363869 + Silent SNP G G A TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr19:4363869G>A c.472C>T c.(472-474)Ctg>Ttg p.L158L SKCM 19 4363870 4363870 + Silent SNP G G A TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr19:4363870G>A c.471C>T c.(469-471)caC>caT p.H157H SKCM 19 4364151 4364151 + Silent SNP G G A TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr19:4364151G>A c.399C>T c.(397-399)atC>atT p.I133I SKCM 19 4365544 4365544 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr19:4365544G>A c.266C>T c.(265-267)tCg>tTg p.S89L SKCM 19 4365621 4365621 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr19:4365621G>A c.189C>T c.(187-189)gcC>gcT p.A63A

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 19 4362691 4362691 single base substitution G C downstream_gene_variant BLCA-CN 19 4362691 4362691 single base substitution G C synonymous_variant P193P 579C>G BLCA-CN 19 4362691 4362691 single base substitution G C synonymous_variant P209P 627C>G BLCA-CN 19 4362691 4362691 single base substitution G C synonymous_variant P257P 771C>G BLCA-US 19 4357557 4357557 single base substitution C G downstream_gene_variant BLCA-US 19 4359177 4359177 single base substitution C T downstream_gene_variant BLCA-US 19 4361711 4361711 single base substitution G A downstream_gene_variant BLCA-US 19 4361711 4361711 single base substitution G A synonymous_variant D267D 801C>T BLCA-US 19 4361711 4361711 single base substitution G A synonymous_variant D283D 849C>T BLCA-US 19 4361711 4361711 single base substitution G A synonymous_variant D331D 993C>T BLCA-US 19 4362650 4362650 single base substitution G A downstream_gene_variant BLCA-US 19 4362650 4362650 single base substitution G A missense_variant S207F 620C>T BLCA-US 19 4362650 4362650 single base substitution G A missense_variant S223F 668C>T BLCA-US 19 4362650 4362650 single base substitution G A missense_variant S271F 812C>T BLCA-US 19 4363777 4363777 single base substitution C G downstream_gene_variant BLCA-US 19 4363777 4363777 single base substitution C G missense_variant E124D 372G>C BLCA-US 19 4363777 4363777 single base substitution C G missense_variant E140D 420G>C BLCA-US 19 4363777 4363777 single base substitution C G missense_variant E188D 564G>C BLCA-US 19 4363857 4363857 single base substitution C T downstream_gene_variant BLCA-US 19 4363857 4363857 single base substitution C T missense_variant E114K 340G>A BLCA-US 19 4363857 4363857 single base substitution C T missense_variant E127K 379G>A BLCA-US 19 4363857 4363857 single base substitution C T missense_variant E162K 484G>A BLCA-US 19 4363857 4363857 single base substitution C T missense_variant E98K 292G>A BLCA-US 19 4364106 4364106 single base substitution C T downstream_gene_variant BLCA-US 19 4364106 4364106 single base substitution C T synonymous_variant E100E 300G>A BLCA-US 19 4364106 4364106 single base substitution C T synonymous_variant E113E 339G>A BLCA-US 19 4364106 4364106 single base substitution C T synonymous_variant E148E 444G>A BLCA-US 19 4364106 4364106 single base substitution C T synonymous_variant E84E 252G>A BLCA-US 19 4366967 4366967 single base substitution C A 5_prime_UTR_variant BLCA-US 19 4366967 4366967 single base substitution C A missense_variant A24S 70G>T BRCA-EU 19 4355453 4355453 single base substitution C A downstream_gene_variant BRCA-EU 19 4355723 4355723 single base substitution C T downstream_gene_variant BRCA-EU 19 4355724 4355724 single base substitution C T downstream_gene_variant BRCA-EU 19 4355741 4355741 single base substitution C T downstream_gene_variant BRCA-EU 19 4355810 4355810 single base substitution C T downstream_gene_variant BRCA-EU 19 4356210 4356210 single base substitution C T downstream_gene_variant BRCA-EU 19 4356264 4356264 single base substitution C T downstream_gene_variant BRCA-EU 19 4356331 4356331 single base substitution C T downstream_gene_variant BRCA-EU 19 4356339 4356339 single base substitution C T downstream_gene_variant BRCA-EU 19 4356528 4356528 single base substitution C T downstream_gene_variant BRCA-EU 19 4356608 4356608 single base substitution C T downstream_gene_variant BRCA-EU 19 4357282 4357282 single base substitution C G downstream_gene_variant BRCA-EU 19 4358127 4358127 single base substitution C G downstream_gene_variant BRCA-EU 19 4358225 4358225 single base substitution G A downstream_gene_variant BRCA-EU 19 4358655 4358655 single base substitution G A downstream_gene_variant BRCA-EU 19 4360561 4360561 single base substitution G C 3_prime_UTR_variant BRCA-EU 19 4360561 4360561 single base substitution G C downstream_gene_variant BRCA-EU 19 4364100 4364100 single base substitution G C downstream_gene_variant BRCA-EU 19 4364100 4364100 single base substitution G C missense_variant D102E 306C>G BRCA-EU 19 4364100 4364100 single base substitution G C missense_variant D115E 345C>G BRCA-EU 19 4364100 4364100 single base substitution G C missense_variant D150E 450C>G BRCA-EU 19 4364100 4364100 single base substitution G C missense_variant D86E 258C>G BRCA-EU 19 4364161 4364161 single base substitution G T downstream_gene_variant BRCA-EU 19 4364161 4364161 single base substitution G T intron_variant BRCA-EU 19 4364161 4364161 single base substitution G T missense_variant S130Y 389C>A BRCA-EU 19 4364161 4364161 single base substitution G T missense_variant S82Y 245C>A BRCA-EU 19 4364161 4364161 single base substitution G T missense_variant S95Y 284C>A BRCA-EU 19 4364283 4364283 single base substitution C T downstream_gene_variant BRCA-EU 19 4364283 4364283 single base substitution C T intron_variant BRCA-EU 19 4367024 4367024 single base substitution C T intron_variant BRCA-EU 19 4369068 4369068 single base substitution C G intron_variant BRCA-EU 19 4369650 4369650 single base substitution C G intron_variant BRCA-EU 19 4370089 4370089 single base substitution G T intron_variant BRCA-EU 19 4370963 4370963 single base substitution A G intron_variant BRCA-EU 19 4371044 4371044 single base substitution C T intron_variant BRCA-EU 19 4371452 4371452 single base substitution C T intron_variant BRCA-EU 19 4372898 4372898 single base substitution G A intron_variant BRCA-EU 19 4374059 4374059 single base substitution C T intron_variant BRCA-EU 19 4374971 4374971 single base substitution G A intron_variant BRCA-EU 19 4375600 4375600 single base substitution G A intron_variant BRCA-EU 19 4376115 4376115 single base substitution C A intron_variant BRCA-EU 19 4376335 4376335 single base substitution C G intron_variant BRCA-EU 19 4376769 4376769 single base substitution C T intron_variant BRCA-EU 19 4379065 4379065 single base substitution C G intron_variant BRCA-EU 19 4382922 4382922 insertion of <=200bp - T intron_variant BRCA-EU 19 4382922 4382922 insertion of <=200bp - T upstream_gene_variant BRCA-EU 19 4385562 4385562 single base substitution C T intron_variant BRCA-EU 19 4386912 4386912 single base substitution G A intron_variant BRCA-EU 19 4388622 4388622 single base substitution G T intron_variant BRCA-EU 19 4388970 4388970 single base substitution G C intron_variant BRCA-EU 19 4389256 4389256 single base substitution G A intron_variant BRCA-EU 19 4389281 4389281 single base substitution G A intron_variant BRCA-EU 19 4389635 4389635 single base substitution T C intron_variant BRCA-EU 19 4391575 4391577 deletion of <=200bp TTG - intron_variant BRCA-EU 19 4391575 4391577 deletion of <=200bp TTG - upstream_gene_variant BRCA-EU 19 4393465 4393465 single base substitution G T intron_variant BRCA-EU 19 4393465 4393465 single base substitution G T upstream_gene_variant BRCA-EU 19 4395351 4395351 single base substitution G A intron_variant BRCA-EU 19 4395351 4395351 single base substitution G A upstream_gene_variant BRCA-EU 19 4397718 4397718 single base substitution G C intron_variant BRCA-EU 19 4397718 4397718 single base substitution G C upstream_gene_variant BRCA-EU 19 4398421 4398421 single base substitution C T intron_variant BRCA-EU 19 4398421 4398421 single base substitution C T upstream_gene_variant BRCA-EU 19 4398788 4398788 deletion of <=200bp A - intron_variant BRCA-EU 19 4398788 4398788 deletion of <=200bp A - upstream_gene_variant BRCA-EU 19 4399528 4399528 single base substitution G A intron_variant BRCA-EU 19 4399528 4399528 single base substitution G A upstream_gene_variant BRCA-EU 19 4399702 4399702 single base substitution A C intron_variant BRCA-EU 19 4399702 4399702 single base substitution A C upstream_gene_variant BRCA-EU 19 4399875 4399875 single base substitution T G intron_variant BRCA-EU 19 4399875 4399875 single base substitution T G upstream_gene_variant BRCA-EU 19 4401005 4401005 single base substitution C T upstream_gene_variant BRCA-EU 19 4401059 4401059 single base substitution G A upstream_gene_variant BRCA-EU 19 4401368 4401368 single base substitution G T upstream_gene_variant BRCA-EU 19 4401463 4401463 single base substitution G C upstream_gene_variant BRCA-EU 19 4402222 4402222 single base substitution C G upstream_gene_variant BRCA-EU 19 4404393 4404393 single base substitution A G upstream_gene_variant BRCA-EU 19 4404626 4404626 single base substitution G A upstream_gene_variant BRCA-EU 19 4405263 4405263 single base substitution G A upstream_gene_variant BRCA-FR 19 4358655 4358655 single base substitution G A downstream_gene_variant BRCA-FR 19 4361059 4361059 single base substitution G C 3_prime_UTR_variant BRCA-FR 19 4361059 4361059 single base substitution G C downstream_gene_variant BRCA-FR 19 4361405 4361405 single base substitution C T 3_prime_UTR_variant BRCA-FR 19 4361405 4361405 single base substitution C T downstream_gene_variant BRCA-FR 19 4364161 4364161 single base substitution G T downstream_gene_variant BRCA-FR 19 4364161 4364161 single base substitution G T intron_variant BRCA-FR 19 4364161 4364161 single base substitution G T missense_variant S130Y 389C>A BRCA-FR 19 4364161 4364161 single base substitution G T missense_variant S82Y 245C>A BRCA-FR 19 4364161 4364161 single base substitution G T missense_variant S95Y 284C>A BRCA-FR 19 4366708 4366708 single base substitution C T intron_variant BRCA-FR 19 4374059 4374059 single base substitution C T intron_variant BRCA-FR 19 4389635 4389635 single base substitution T C intron_variant BRCA-FR 19 4405263 4405263 single base substitution G A upstream_gene_variant BRCA-KR 19 4365587 4365587 single base substitution A G downstream_gene_variant BRCA-KR 19 4365587 4365587 single base substitution A G intron_variant BRCA-KR 19 4365587 4365587 single base substitution A G missense_variant S40P 118T>C BRCA-KR 19 4365587 4365587 single base substitution A G missense_variant S75P 223T>C BRCA-UK 19 4356212 4356212 single base substitution C G downstream_gene_variant BRCA-UK 19 4356264 4356264 single base substitution C T downstream_gene_variant BRCA-UK 19 4356704 4356704 single base substitution C T downstream_gene_variant BRCA-UK 19 4356736 4356736 single base substitution C G downstream_gene_variant BRCA-UK 19 4376946 4376946 single base substitution C T intron_variant BRCA-UK 19 4379065 4379065 single base substitution C G intron_variant BRCA-UK 19 4386912 4386912 single base substitution G A intron_variant BRCA-UK 19 4390057 4390057 single base substitution G A 5_prime_UTR_variant BRCA-UK 19 4390057 4390057 single base substitution G A intron_variant BRCA-UK 19 4390258 4390258 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BRCA-UK 19 4390258 4390258 single base substitution G C intron_variant BRCA-US 19 4363740 4363740 insertion of <=200bp - G downstream_gene_variant BRCA-US 19 4363740 4363740 insertion of <=200bp - G frameshift_variant M137T? BRCA-US 19 4363740 4363740 insertion of <=200bp - G frameshift_variant M153T? BRCA-US 19 4363740 4363740 insertion of <=200bp - G frameshift_variant M201T? BRCA-US 19 4364180 4364181 deletion of <=200bp GG - downstream_gene_variant BRCA-US 19 4364180 4364181 deletion of <=200bp GG - frameshift_variant RL123 BRCA-US 19 4364180 4364181 deletion of <=200bp GG - frameshift_variant RL75 BRCA-US 19 4364180 4364181 deletion of <=200bp GG - frameshift_variant RL88 BRCA-US 19 4364180 4364181 deletion of <=200bp GG - intron_variant BRCA-US 19 4364183 4364183 deletion of <=200bp G - downstream_gene_variant BRCA-US 19 4364183 4364183 deletion of <=200bp G - frameshift_variant R123 BRCA-US 19 4364183 4364183 deletion of <=200bp G - frameshift_variant R75 BRCA-US 19 4364183 4364183 deletion of <=200bp G - frameshift_variant R88 BRCA-US 19 4364183 4364183 deletion of <=200bp G - intron_variant BRCA-US 19 4365582 4365582 single base substitution C A downstream_gene_variant BRCA-US 19 4365582 4365582 single base substitution C A intron_variant BRCA-US 19 4365582 4365582 single base substitution C A missense_variant K41N 123G>T BRCA-US 19 4365582 4365582 single base substitution C A missense_variant K76N 228G>T BTCA-JP 19 4359269 4359269 single base substitution C T downstream_gene_variant BTCA-JP 19 4361710 4361710 single base substitution C T downstream_gene_variant BTCA-JP 19 4361710 4361710 single base substitution C T missense_variant V268I 802G>A BTCA-JP 19 4361710 4361710 single base substitution C T missense_variant V284I 850G>A BTCA-JP 19 4361710 4361710 single base substitution C T missense_variant V332I 994G>A CESC-US 19 4361723 4361723 single base substitution G A downstream_gene_variant CESC-US 19 4361723 4361723 single base substitution G A synonymous_variant F263F 789C>T CESC-US 19 4361723 4361723 single base substitution G A synonymous_variant F279F 837C>T CESC-US 19 4361723 4361723 single base substitution G A synonymous_variant F327F 981C>T CESC-US 19 4362348 4362348 single base substitution G C downstream_gene_variant CESC-US 19 4362348 4362348 single base substitution G C missense_variant I232M 696C>G CESC-US 19 4362348 4362348 single base substitution G C missense_variant I248M 744C>G CESC-US 19 4362348 4362348 single base substitution G C missense_variant I296M 888C>G CESC-US 19 4362616 4362616 single base substitution C G downstream_gene_variant CESC-US 19 4362616 4362616 single base substitution C G missense_variant K218N 654G>C CESC-US 19 4362616 4362616 single base substitution C G missense_variant K234N 702G>C CESC-US 19 4362616 4362616 single base substitution C G missense_variant K282N 846G>C CESC-US 19 4363916 4363916 single base substitution G A downstream_gene_variant CESC-US 19 4363916 4363916 single base substitution G A intron_variant CESC-US 19 4364097 4364097 single base substitution C T downstream_gene_variant CESC-US 19 4364097 4364097 single base substitution C T synonymous_variant L103L 309G>A CESC-US 19 4364097 4364097 single base substitution C T synonymous_variant L116L 348G>A CESC-US 19 4364097 4364097 single base substitution C T synonymous_variant L151L 453G>A CESC-US 19 4364097 4364097 single base substitution C T synonymous_variant L87L 261G>A CLLE-ES 19 4357667 4357667 single base substitution G C downstream_gene_variant CLLE-ES 19 4382725 4382725 single base substitution T G intron_variant CLLE-ES 19 4382725 4382725 single base substitution T G upstream_gene_variant COAD-US 19 4357272 4357272 single base substitution G A downstream_gene_variant COAD-US 19 4359976 4359976 single base substitution G A downstream_gene_variant COAD-US 19 4362335 4362335 single base substitution G A downstream_gene_variant COAD-US 19 4362335 4362335 single base substitution G A missense_variant R237W 709C>T COAD-US 19 4362335 4362335 single base substitution G A missense_variant R253W 757C>T COAD-US 19 4362335 4362335 single base substitution G A missense_variant R301W 901C>T COAD-US 19 4365528 4365528 single base substitution G A downstream_gene_variant COAD-US 19 4365528 4365528 single base substitution G A intron_variant COAD-US 19 4365528 4365528 single base substitution G A synonymous_variant G59G 177C>T COAD-US 19 4365528 4365528 single base substitution G A synonymous_variant G94G 282C>T COAD-US 19 4366524 4366524 single base substitution G A missense_variant T19I 56C>T COAD-US 19 4366524 4366524 single base substitution G A missense_variant T54I 161C>T COCA-CN 19 4361636 4361636 single base substitution C T downstream_gene_variant COCA-CN 19 4361636 4361636 single base substitution C T synonymous_variant P292P 876G>A COCA-CN 19 4361636 4361636 single base substitution C T synonymous_variant P308P 924G>A COCA-CN 19 4361636 4361636 single base substitution C T synonymous_variant P356P 1068G>A COCA-CN 19 4362749 4362749 single base substitution C T downstream_gene_variant COCA-CN 19 4362749 4362749 single base substitution C T intron_variant EOPC-DE 19 4355734 4355734 single base substitution G C downstream_gene_variant EOPC-DE 19 4369394 4369394 single base substitution G A intron_variant ESAD-UK 19 4359025 4359025 single base substitution C T downstream_gene_variant ESAD-UK 19 4360306 4360306 single base substitution C T downstream_gene_variant ESAD-UK 19 4360855 4360855 single base substitution G A 3_prime_UTR_variant ESAD-UK 19 4360855 4360855 single base substitution G A downstream_gene_variant ESAD-UK 19 4361201 4361201 single base substitution G A 3_prime_UTR_variant ESAD-UK 19 4361201 4361201 single base substitution G A downstream_gene_variant ESAD-UK 19 4363993 4363993 single base substitution A T downstream_gene_variant ESAD-UK 19 4363993 4363993 single base substitution A T intron_variant ESAD-UK 19 4364254 4364254 single base substitution G C downstream_gene_variant ESAD-UK 19 4364254 4364254 single base substitution G C intron_variant ESAD-UK 19 4369298 4369298 single base substitution G C intron_variant ESAD-UK 19 4369378 4369378 single base substitution G C intron_variant ESAD-UK 19 4371859 4371859 single base substitution C T intron_variant ESAD-UK 19 4375227 4375227 single base substitution A T intron_variant ESAD-UK 19 4378482 4378482 single base substitution C T intron_variant ESAD-UK 19 4383076 4383076 single base substitution T A intron_variant ESAD-UK 19 4383076 4383076 single base substitution T A upstream_gene_variant ESAD-UK 19 4393429 4393429 single base substitution T C intron_variant ESAD-UK 19 4393429 4393429 single base substitution T C upstream_gene_variant ESAD-UK 19 4395339 4395339 single base substitution G A intron_variant ESAD-UK 19 4395339 4395339 single base substitution G A upstream_gene_variant ESAD-UK 19 4395911 4395911 insertion of <=200bp - AT 5_prime_UTR_variant ESAD-UK 19 4395911 4395911 insertion of <=200bp - AT intron_variant ESAD-UK 19 4398350 4398350 single base substitution A G intron_variant ESAD-UK 19 4398350 4398350 single base substitution A G upstream_gene_variant ESAD-UK 19 4400744 4400744 deletion of <=200bp T - upstream_gene_variant ESAD-UK 19 4400773 4400773 single base substitution G A upstream_gene_variant ESAD-UK 19 4400808 4400808 single base substitution T C upstream_gene_variant ESAD-UK 19 4402591 4402591 single base substitution C T upstream_gene_variant ESCA-CN 19 4365619 4365619 single base substitution G A downstream_gene_variant ESCA-CN 19 4365619 4365619 single base substitution G A intron_variant ESCA-CN 19 4365619 4365619 single base substitution G A missense_variant S29L 86C>T ESCA-CN 19 4365619 4365619 single base substitution G A missense_variant S64L 191C>T ESCA-CN 19 4366654 4366654 single base substitution C T intron_variant ESCA-CN 19 4366664 4366664 single base substitution C G intron_variant KIRC-US 19 4363420 4363420 single base substitution G A downstream_gene_variant KIRC-US 19 4363420 4363420 single base substitution G A synonymous_variant Y161Y 483C>T KIRC-US 19 4363420 4363420 single base substitution G A synonymous_variant Y177Y 531C>T KIRC-US 19 4363420 4363420 single base substitution G A synonymous_variant Y225Y 675C>T KIRC-US 19 4363421 4363421 single base substitution T C downstream_gene_variant KIRC-US 19 4363421 4363421 single base substitution T C missense_variant Y161C 482A>G KIRC-US 19 4363421 4363421 single base substitution T C missense_variant Y177C 530A>G KIRC-US 19 4363421 4363421 single base substitution T C missense_variant Y225C 674A>G LAML-KR 19 4364346 4364346 single base substitution G T downstream_gene_variant LAML-KR 19 4364346 4364346 single base substitution G T intron_variant LGG-US 19 4357346 4357346 single base substitution G A downstream_gene_variant LICA-CN 19 4361791 4361791 single base substitution G A downstream_gene_variant LICA-CN 19 4361791 4361791 single base substitution G A missense_variant P241S 721C>T LICA-CN 19 4361791 4361791 single base substitution G A missense_variant P257S 769C>T LICA-CN 19 4361791 4361791 single base substitution G A missense_variant P305S 913C>T LICA-FR 19 4355578 4355578 single base substitution C T downstream_gene_variant LICA-FR 19 4362711 4362711 single base substitution G A downstream_gene_variant LICA-FR 19 4362711 4362711 single base substitution G A missense_variant P187S 559C>T LICA-FR 19 4362711 4362711 single base substitution G A missense_variant P203S 607C>T LICA-FR 19 4362711 4362711 single base substitution G A missense_variant P251S 751C>T LICA-FR 19 4365539 4365539 single base substitution C T downstream_gene_variant LICA-FR 19 4365539 4365539 single base substitution C T intron_variant LICA-FR 19 4365539 4365539 single base substitution C T missense_variant G56R 166G>A LICA-FR 19 4365539 4365539 single base substitution C T missense_variant G91R 271G>A LICA-FR 19 4379423 4379423 deletion of <=200bp A - intron_variant LICA-FR 19 4381402 4381402 single base substitution A C intron_variant LICA-FR 19 4381402 4381402 single base substitution A C upstream_gene_variant LICA-FR 19 4394124 4394126 deletion of <=200bp AAA - intron_variant LICA-FR 19 4394124 4394126 deletion of <=200bp AAA - upstream_gene_variant LIHC-US 19 4361758 4361758 single base substitution C G downstream_gene_variant LIHC-US 19 4361758 4361758 single base substitution C G missense_variant D252H 754G>C LIHC-US 19 4361758 4361758 single base substitution C G missense_variant D268H 802G>C LIHC-US 19 4361758 4361758 single base substitution C G missense_variant D316H 946G>C LINC-JP 19 4357385 4357385 single base substitution A G downstream_gene_variant LINC-JP 19 4359038 4359038 single base substitution T A downstream_gene_variant LINC-JP 19 4362675 4362675 single base substitution A C downstream_gene_variant LINC-JP 19 4362675 4362675 single base substitution A C missense_variant F199V 595T>G LINC-JP 19 4362675 4362675 single base substitution A C missense_variant F215V 643T>G LINC-JP 19 4362675 4362675 single base substitution A C missense_variant F263V 787T>G LINC-JP 19 4365742 4365742 single base substitution C T downstream_gene_variant LINC-JP 19 4365742 4365742 single base substitution C T intron_variant LINC-JP 19 4375896 4375896 single base substitution G A intron_variant LINC-JP 19 4395169 4395169 single base substitution T G intron_variant LINC-JP 19 4395169 4395169 single base substitution T G upstream_gene_variant LINC-JP 19 4400816 4400816 single base substitution T C upstream_gene_variant LIRI-JP 19 4357806 4357806 single base substitution T C downstream_gene_variant LIRI-JP 19 4358128 4358128 single base substitution G A downstream_gene_variant LIRI-JP 19 4359483 4359483 insertion of <=200bp - T downstream_gene_variant LIRI-JP 19 4362943 4362943 single base substitution G C downstream_gene_variant LIRI-JP 19 4362943 4362943 single base substitution G C intron_variant LIRI-JP 19 4365502 4365502 single base substitution T C downstream_gene_variant LIRI-JP 19 4365502 4365502 single base substitution T C intron_variant LIRI-JP 19 4365502 4365502 single base substitution T C missense_variant E103G 308A>G LIRI-JP 19 4365502 4365502 single base substitution T C missense_variant E68G 203A>G LIRI-JP 19 4366375 4366375 single base substitution G A downstream_gene_variant LIRI-JP 19 4366375 4366375 single base substitution G A intron_variant LIRI-JP 19 4367910 4367910 single base substitution T C intron_variant LIRI-JP 19 4367928 4367928 single base substitution T C intron_variant LIRI-JP 19 4369097 4369097 single base substitution A G intron_variant LIRI-JP 19 4380219 4380219 single base substitution G A 5_prime_UTR_variant LIRI-JP 19 4380219 4380219 single base substitution G A intron_variant LIRI-JP 19 4383574 4383574 single base substitution A G intron_variant LIRI-JP 19 4383574 4383574 single base substitution A G upstream_gene_variant LIRI-JP 19 4385120 4385120 single base substitution G C intron_variant LIRI-JP 19 4385120 4385120 single base substitution G C upstream_gene_variant LIRI-JP 19 4389525 4389525 single base substitution G C intron_variant LIRI-JP 19 4391082 4391082 single base substitution G C intron_variant LIRI-JP 19 4391082 4391082 single base substitution G C upstream_gene_variant LIRI-JP 19 4391509 4391509 single base substitution C T intron_variant LIRI-JP 19 4391509 4391509 single base substitution C T upstream_gene_variant LIRI-JP 19 4398785 4398785 single base substitution T C intron_variant LIRI-JP 19 4398785 4398785 single base substitution T C upstream_gene_variant LIRI-JP 19 4398807 4398807 single base substitution T C intron_variant LIRI-JP 19 4398807 4398807 single base substitution T C upstream_gene_variant LIRI-JP 19 4398922 4398922 single base substitution T C intron_variant LIRI-JP 19 4398922 4398922 single base substitution T C upstream_gene_variant LIRI-JP 19 4401100 4401100 single base substitution G C upstream_gene_variant LIRI-JP 19 4403380 4403380 single base substitution C T upstream_gene_variant LIRI-JP 19 4404512 4404512 single base substitution A G upstream_gene_variant LUSC-KR 19 4372613 4372613 single base substitution G A intron_variant LUSC-KR 19 4381196 4381196 single base substitution A C intron_variant LUSC-KR 19 4381196 4381196 single base substitution A C upstream_gene_variant LUSC-KR 19 4381265 4381265 single base substitution A C intron_variant LUSC-KR 19 4381265 4381265 single base substitution A C upstream_gene_variant LUSC-KR 19 4381508 4381508 single base substitution C A intron_variant LUSC-KR 19 4381508 4381508 single base substitution C A upstream_gene_variant LUSC-KR 19 4386459 4386459 single base substitution G A intron_variant LUSC-KR 19 4387981 4387981 single base substitution T A intron_variant LUSC-KR 19 4397818 4397818 single base substitution C T intron_variant LUSC-KR 19 4397818 4397818 single base substitution C T upstream_gene_variant LUSC-KR 19 4398343 4398343 single base substitution T C intron_variant LUSC-KR 19 4398343 4398343 single base substitution T C upstream_gene_variant LUSC-KR 19 4402303 4402303 single base substitution C T upstream_gene_variant LUSC-US 19 4361705 4361705 single base substitution G C downstream_gene_variant LUSC-US 19 4361705 4361705 single base substitution G C missense_variant I269M 807C>G LUSC-US 19 4361705 4361705 single base substitution G C missense_variant I285M 855C>G LUSC-US 19 4361705 4361705 single base substitution G C missense_variant I333M 999C>G LUSC-US 19 4366964 4366964 single base substitution C A 5_prime_UTR_variant LUSC-US 19 4366964 4366964 single base substitution C A stop_gained E25* 73G>T MALY-DE 19 4363821 4363821 single base substitution G A downstream_gene_variant MALY-DE 19 4363821 4363821 single base substitution G A missense_variant R110W 328C>T MALY-DE 19 4363821 4363821 single base substitution G A missense_variant R126W 376C>T MALY-DE 19 4363821 4363821 single base substitution G A missense_variant R139W 415C>T MALY-DE 19 4363821 4363821 single base substitution G A missense_variant R174W 520C>T MALY-DE 19 4364072 4364072 single base substitution G A downstream_gene_variant MALY-DE 19 4364072 4364072 single base substitution G A intron_variant MALY-DE 19 4376632 4376634 deletion of <=200bp CCC - intron_variant MALY-DE 19 4385798 4385798 single base substitution C T intron_variant MALY-DE 19 4388083 4388083 single base substitution C T intron_variant MALY-DE 19 4395911 4395912 deletion of <=200bp AT - 5_prime_UTR_variant MALY-DE 19 4395911 4395912 deletion of <=200bp AT - intron_variant MALY-DE 19 4395934 4395934 single base substitution T A 5_prime_UTR_variant MALY-DE 19 4395934 4395934 single base substitution T A intron_variant MALY-DE 19 4399824 4399824 single base substitution T A intron_variant MALY-DE 19 4399824 4399824 single base substitution T A upstream_gene_variant MALY-DE 19 4401645 4401645 single base substitution A G upstream_gene_variant MALY-DE 19 4401915 4401915 single base substitution T C upstream_gene_variant MALY-DE 19 4403231 4403231 single base substitution C T upstream_gene_variant MALY-DE 19 4403319 4403319 single base substitution C T upstream_gene_variant MALY-DE 19 4404983 4404983 single base substitution T C upstream_gene_variant MELA-AU 19 4357479 4357479 single base substitution C T downstream_gene_variant MELA-AU 19 4358142 4358142 single base substitution C T downstream_gene_variant MELA-AU 19 4359234 4359234 single base substitution C T downstream_gene_variant MELA-AU 19 4361116 4361117 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 19 4361116 4361117 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 19 4361159 4361159 single base substitution G A 3_prime_UTR_variant MELA-AU 19 4361159 4361159 single base substitution G A downstream_gene_variant MELA-AU 19 4361561 4361561 single base substitution G A 3_prime_UTR_variant MELA-AU 19 4361561 4361561 single base substitution G A downstream_gene_variant MELA-AU 19 4362454 4362455 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 19 4362454 4362455 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 4362583 4362583 single base substitution C T downstream_gene_variant MELA-AU 19 4362583 4362583 single base substitution C T intron_variant MELA-AU 19 4362727 4362727 single base substitution C T downstream_gene_variant MELA-AU 19 4362727 4362727 single base substitution C T synonymous_variant R181R 543G>A MELA-AU 19 4362727 4362727 single base substitution C T synonymous_variant R197R 591G>A MELA-AU 19 4362727 4362727 single base substitution C T synonymous_variant R245R 735G>A MELA-AU 19 4364042 4364042 single base substitution G A downstream_gene_variant MELA-AU 19 4364042 4364042 single base substitution G A intron_variant MELA-AU 19 4364714 4364714 single base substitution C T downstream_gene_variant MELA-AU 19 4364714 4364714 single base substitution C T intron_variant MELA-AU 19 4364823 4364823 single base substitution G A downstream_gene_variant MELA-AU 19 4364823 4364823 single base substitution G A intron_variant MELA-AU 19 4365318 4365318 single base substitution G A downstream_gene_variant MELA-AU 19 4365318 4365318 single base substitution G A intron_variant MELA-AU 19 4366136 4366136 single base substitution C G downstream_gene_variant MELA-AU 19 4366136 4366136 single base substitution C G intron_variant MELA-AU 19 4366672 4366672 single base substitution G A intron_variant MELA-AU 19 4366715 4366715 single base substitution C T intron_variant MELA-AU 19 4366791 4366791 single base substitution C A intron_variant MELA-AU 19 4367087 4367087 single base substitution C G intron_variant MELA-AU 19 4367188 4367188 single base substitution G A intron_variant MELA-AU 19 4367871 4367872 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 4368095 4368095 single base substitution G A intron_variant MELA-AU 19 4368309 4368309 single base substitution G A intron_variant MELA-AU 19 4368491 4368492 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 19 4369216 4369216 single base substitution G A intron_variant MELA-AU 19 4369529 4369529 single base substitution G A intron_variant MELA-AU 19 4369611 4369611 single base substitution G A intron_variant MELA-AU 19 4370405 4370405 single base substitution G A intron_variant MELA-AU 19 4370550 4370550 single base substitution G A intron_variant MELA-AU 19 4371414 4371414 single base substitution G A intron_variant MELA-AU 19 4371481 4371481 single base substitution G A intron_variant MELA-AU 19 4372214 4372214 single base substitution G A intron_variant MELA-AU 19 4372235 4372235 single base substitution G A intron_variant MELA-AU 19 4372562 4372562 single base substitution G A intron_variant MELA-AU 19 4372881 4372881 single base substitution G A intron_variant MELA-AU 19 4373030 4373030 single base substitution G A intron_variant MELA-AU 19 4373245 4373245 single base substitution G A intron_variant MELA-AU 19 4374107 4374107 single base substitution G A intron_variant MELA-AU 19 4374394 4374394 single base substitution G A intron_variant MELA-AU 19 4374615 4374615 single base substitution C T intron_variant MELA-AU 19 4374838 4374838 single base substitution G A intron_variant MELA-AU 19 4375195 4375195 single base substitution G A intron_variant MELA-AU 19 4375690 4375690 single base substitution A G intron_variant MELA-AU 19 4375943 4375943 single base substitution G A intron_variant MELA-AU 19 4376106 4376107 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 4376412 4376412 single base substitution G A intron_variant MELA-AU 19 4376849 4376849 single base substitution G A intron_variant MELA-AU 19 4376885 4376885 single base substitution G A intron_variant MELA-AU 19 4377116 4377116 single base substitution G A intron_variant MELA-AU 19 4377324 4377324 single base substitution G A intron_variant MELA-AU 19 4377919 4377919 single base substitution G A intron_variant MELA-AU 19 4378160 4378160 single base substitution G A intron_variant MELA-AU 19 4380363 4380363 single base substitution G A intron_variant MELA-AU 19 4380363 4380363 single base substitution G A upstream_gene_variant MELA-AU 19 4380389 4380389 single base substitution G A intron_variant MELA-AU 19 4380389 4380389 single base substitution G A upstream_gene_variant MELA-AU 19 4381785 4381785 single base substitution G A intron_variant MELA-AU 19 4381785 4381785 single base substitution G A upstream_gene_variant MELA-AU 19 4382232 4382232 single base substitution G A intron_variant MELA-AU 19 4382232 4382232 single base substitution G A upstream_gene_variant MELA-AU 19 4382238 4382238 single base substitution G A intron_variant MELA-AU 19 4382238 4382238 single base substitution G A upstream_gene_variant MELA-AU 19 4382550 4382551 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 4382550 4382551 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 19 4382587 4382587 single base substitution G A intron_variant MELA-AU 19 4382587 4382587 single base substitution G A upstream_gene_variant MELA-AU 19 4382602 4382602 single base substitution G A intron_variant MELA-AU 19 4382602 4382602 single base substitution G A upstream_gene_variant MELA-AU 19 4384113 4384113 single base substitution G A intron_variant MELA-AU 19 4384113 4384113 single base substitution G A upstream_gene_variant MELA-AU 19 4385349 4385349 single base substitution G A intron_variant MELA-AU 19 4385379 4385379 single base substitution A T intron_variant MELA-AU 19 4385529 4385529 single base substitution C T intron_variant MELA-AU 19 4386247 4386247 single base substitution G A intron_variant MELA-AU 19 4387757 4387757 single base substitution G A intron_variant MELA-AU 19 4388039 4388039 single base substitution G A intron_variant MELA-AU 19 4388435 4388435 single base substitution G A intron_variant MELA-AU 19 4388450 4388450 single base substitution G A intron_variant MELA-AU 19 4388551 4388551 single base substitution G A intron_variant MELA-AU 19 4388852 4388852 single base substitution G A intron_variant MELA-AU 19 4388896 4388896 single base substitution C T intron_variant MELA-AU 19 4389236 4389237 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 19 4390031 4390031 single base substitution G A intron_variant MELA-AU 19 4390301 4390301 single base substitution A G 5_prime_UTR_variant MELA-AU 19 4390301 4390301 single base substitution A G intron_variant MELA-AU 19 4390733 4390733 single base substitution C T intron_variant MELA-AU 19 4390733 4390733 single base substitution C T upstream_gene_variant MELA-AU 19 4391422 4391422 single base substitution C T intron_variant MELA-AU 19 4391422 4391422 single base substitution C T upstream_gene_variant MELA-AU 19 4392040 4392040 single base substitution G A intron_variant MELA-AU 19 4392040 4392040 single base substitution G A upstream_gene_variant MELA-AU 19 4392498 4392498 single base substitution G T intron_variant MELA-AU 19 4392498 4392498 single base substitution G T upstream_gene_variant MELA-AU 19 4392502 4392502 single base substitution G A intron_variant MELA-AU 19 4392502 4392502 single base substitution G A upstream_gene_variant MELA-AU 19 4393153 4393153 single base substitution G A intron_variant MELA-AU 19 4393153 4393153 single base substitution G A upstream_gene_variant MELA-AU 19 4393616 4393616 single base substitution G A intron_variant MELA-AU 19 4393616 4393616 single base substitution G A upstream_gene_variant MELA-AU 19 4393738 4393738 single base substitution G A intron_variant MELA-AU 19 4393738 4393738 single base substitution G A upstream_gene_variant MELA-AU 19 4393996 4393996 single base substitution A G intron_variant MELA-AU 19 4393996 4393996 single base substitution A G upstream_gene_variant MELA-AU 19 4396192 4396192 single base substitution G A intron_variant MELA-AU 19 4396192 4396192 single base substitution G A upstream_gene_variant MELA-AU 19 4396414 4396414 single base substitution C G intron_variant MELA-AU 19 4396414 4396414 single base substitution C G upstream_gene_variant MELA-AU 19 4397412 4397412 single base substitution G A intron_variant MELA-AU 19 4397412 4397412 single base substitution G A upstream_gene_variant MELA-AU 19 4397977 4397977 single base substitution G A intron_variant MELA-AU 19 4397977 4397977 single base substitution G A upstream_gene_variant MELA-AU 19 4397979 4397979 single base substitution G A intron_variant MELA-AU 19 4397979 4397979 single base substitution G A upstream_gene_variant MELA-AU 19 4398084 4398084 single base substitution A G intron_variant MELA-AU 19 4398084 4398084 single base substitution A G upstream_gene_variant MELA-AU 19 4398371 4398371 single base substitution G A intron_variant MELA-AU 19 4398371 4398371 single base substitution G A upstream_gene_variant MELA-AU 19 4398473 4398474 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 4398473 4398474 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 19 4398897 4398897 single base substitution C A intron_variant MELA-AU 19 4398897 4398897 single base substitution C A upstream_gene_variant MELA-AU 19 4398991 4398991 single base substitution T G intron_variant MELA-AU 19 4398991 4398991 single base substitution T G upstream_gene_variant MELA-AU 19 4400139 4400139 single base substitution G A intron_variant MELA-AU 19 4400139 4400139 single base substitution G A upstream_gene_variant MELA-AU 19 4400618 4400618 single base substitution C T upstream_gene_variant MELA-AU 19 4400716 4400716 single base substitution G A upstream_gene_variant MELA-AU 19 4400740 4400740 single base substitution C T upstream_gene_variant MELA-AU 19 4400955 4400955 single base substitution C T upstream_gene_variant MELA-AU 19 4401347 4401347 single base substitution C T upstream_gene_variant MELA-AU 19 4401605 4401605 single base substitution A G upstream_gene_variant MELA-AU 19 4401645 4401645 single base substitution A G upstream_gene_variant MELA-AU 19 4401649 4401649 single base substitution A G upstream_gene_variant MELA-AU 19 4402363 4402363 single base substitution G A upstream_gene_variant MELA-AU 19 4402441 4402441 single base substitution C T upstream_gene_variant MELA-AU 19 4402574 4402574 single base substitution C G upstream_gene_variant MELA-AU 19 4402730 4402730 single base substitution C T upstream_gene_variant MELA-AU 19 4402974 4402974 single base substitution C T upstream_gene_variant MELA-AU 19 4403351 4403352 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 19 4403842 4403842 single base substitution A T upstream_gene_variant MELA-AU 19 4404016 4404016 single base substitution C T upstream_gene_variant MELA-AU 19 4404247 4404247 single base substitution T C upstream_gene_variant MELA-AU 19 4404477 4404477 single base substitution C T upstream_gene_variant MELA-AU 19 4404727 4404727 single base substitution G T upstream_gene_variant ORCA-IN 19 4360995 4360995 single base substitution G C 3_prime_UTR_variant ORCA-IN 19 4360995 4360995 single base substitution G C downstream_gene_variant ORCA-IN 19 4378531 4378531 single base substitution G A intron_variant OV-AU 19 4363345 4363345 single base substitution G C downstream_gene_variant OV-AU 19 4363345 4363345 single base substitution G C intron_variant OV-AU 19 4363434 4363434 single base substitution C T downstream_gene_variant OV-AU 19 4363434 4363434 single base substitution C T missense_variant A157T 469G>A OV-AU 19 4363434 4363434 single base substitution C T missense_variant A173T 517G>A OV-AU 19 4363434 4363434 single base substitution C T missense_variant A221T 661G>A OV-AU 19 4371902 4371902 single base substitution C G intron_variant OV-AU 19 4373967 4373967 single base substitution G C intron_variant OV-AU 19 4388848 4388848 single base substitution C A intron_variant OV-AU 19 4389241 4389241 single base substitution G A intron_variant OV-AU 19 4394396 4394396 single base substitution G T intron_variant OV-AU 19 4394396 4394396 single base substitution G T upstream_gene_variant OV-AU 19 4399422 4399422 single base substitution G C intron_variant OV-AU 19 4399422 4399422 single base substitution G C upstream_gene_variant OV-US 19 4362368 4362368 single base substitution G A downstream_gene_variant OV-US 19 4362368 4362368 single base substitution G A stop_gained R226* 676C>T OV-US 19 4362368 4362368 single base substitution G A stop_gained R242* 724C>T OV-US 19 4362368 4362368 single base substitution G A stop_gained R290* 868C>T PACA-AU 19 4355676 4355676 single base substitution C G downstream_gene_variant PACA-AU 19 4360375 4360375 single base substitution G T 3_prime_UTR_variant PACA-AU 19 4360375 4360375 single base substitution G T downstream_gene_variant PACA-AU 19 4360376 4360376 single base substitution A C 3_prime_UTR_variant PACA-AU 19 4360376 4360376 single base substitution A C downstream_gene_variant PACA-AU 19 4361804 4361804 single base substitution G A downstream_gene_variant PACA-AU 19 4361804 4361804 single base substitution G A intron_variant PACA-AU 19 4379032 4379032 single base substitution C T intron_variant PACA-AU 19 4384346 4384347 deletion of <=200bp GT - intron_variant PACA-AU 19 4384346 4384347 deletion of <=200bp GT - upstream_gene_variant PACA-AU 19 4390729 4390729 single base substitution C T intron_variant PACA-AU 19 4390729 4390729 single base substitution C T upstream_gene_variant PACA-AU 19 4398362 4398362 single base substitution C G intron_variant PACA-AU 19 4398362 4398362 single base substitution C G upstream_gene_variant PACA-CA 19 4358248 4358248 single base substitution G A downstream_gene_variant PACA-CA 19 4358794 4358794 single base substitution C A downstream_gene_variant PACA-CA 19 4359561 4359561 single base substitution C G downstream_gene_variant PACA-CA 19 4360434 4360434 single base substitution G A 3_prime_UTR_variant PACA-CA 19 4360434 4360434 single base substitution G A downstream_gene_variant PACA-CA 19 4361738 4361738 single base substitution G A downstream_gene_variant PACA-CA 19 4361738 4361738 single base substitution G A synonymous_variant D258D 774C>T PACA-CA 19 4361738 4361738 single base substitution G A synonymous_variant D274D 822C>T PACA-CA 19 4361738 4361738 single base substitution G A synonymous_variant D322D 966C>T PACA-CA 19 4362310 4362310 single base substitution G A downstream_gene_variant PACA-CA 19 4362310 4362310 single base substitution G A intron_variant PACA-CA 19 4369384 4369384 single base substitution T C intron_variant PACA-CA 19 4374571 4374571 single base substitution C T intron_variant PACA-CA 19 4377269 4377269 single base substitution C A intron_variant PACA-CA 19 4380528 4380528 single base substitution A G intron_variant PACA-CA 19 4380528 4380528 single base substitution A G upstream_gene_variant PACA-CA 19 4381780 4381780 single base substitution C T intron_variant PACA-CA 19 4381780 4381780 single base substitution C T upstream_gene_variant PACA-CA 19 4385592 4385592 single base substitution G A intron_variant PACA-CA 19 4387813 4387813 single base substitution G A intron_variant PACA-CA 19 4393263 4393263 insertion of <=200bp - A intron_variant PACA-CA 19 4393263 4393263 insertion of <=200bp - A upstream_gene_variant PACA-CA 19 4394052 4394052 single base substitution G A intron_variant PACA-CA 19 4394052 4394052 single base substitution G A upstream_gene_variant PACA-CA 19 4394366 4394366 single base substitution G A intron_variant PACA-CA 19 4394366 4394366 single base substitution G A upstream_gene_variant PACA-CA 19 4398133 4398133 single base substitution C G intron_variant PACA-CA 19 4398133 4398133 single base substitution C G upstream_gene_variant PACA-CA 19 4398230 4398230 single base substitution G A intron_variant PACA-CA 19 4398230 4398230 single base substitution G A upstream_gene_variant PAEN-AU 19 4355578 4355578 single base substitution C T downstream_gene_variant PAEN-AU 19 4355584 4355584 single base substitution A G downstream_gene_variant PAEN-AU 19 4355657 4355657 single base substitution A G downstream_gene_variant PAEN-AU 19 4372976 4372976 single base substitution G A intron_variant PAEN-IT 19 4358640 4358640 single base substitution C T downstream_gene_variant PAEN-IT 19 4393383 4393383 single base substitution G T intron_variant PAEN-IT 19 4393383 4393383 single base substitution G T upstream_gene_variant PAEN-IT 19 4399241 4399241 single base substitution C T intron_variant PAEN-IT 19 4399241 4399241 single base substitution C T upstream_gene_variant PBCA-DE 19 4361422 4361422 single base substitution A T 3_prime_UTR_variant PBCA-DE 19 4361422 4361422 single base substitution A T downstream_gene_variant PBCA-DE 19 4364091 4364091 single base substitution C A downstream_gene_variant PBCA-DE 19 4364091 4364091 single base substitution C A missense_variant E105D 315G>T PBCA-DE 19 4364091 4364091 single base substitution C A missense_variant E118D 354G>T PBCA-DE 19 4364091 4364091 single base substitution C A missense_variant E153D 459G>T PBCA-DE 19 4364091 4364091 single base substitution C A missense_variant E89D 267G>T PBCA-DE 19 4381144 4381144 single base substitution T C intron_variant PBCA-DE 19 4381144 4381144 single base substitution T C upstream_gene_variant PBCA-DE 19 4383378 4383378 deletion of <=200bp T - intron_variant PBCA-DE 19 4383378 4383378 deletion of <=200bp T - upstream_gene_variant PBCA-DE 19 4395911 4395912 deletion of <=200bp AT - 5_prime_UTR_variant PBCA-DE 19 4395911 4395912 deletion of <=200bp AT - intron_variant PBCA-DE 19 4397856 4397856 insertion of <=200bp - T intron_variant PBCA-DE 19 4397856 4397856 insertion of <=200bp - T upstream_gene_variant PBCA-DE 19 4398788 4398788 deletion of <=200bp A - intron_variant PBCA-DE 19 4398788 4398788 deletion of <=200bp A - upstream_gene_variant PBCA-DE 19 4401930 4401930 single base substitution G T upstream_gene_variant PBCA-DE 19 4403345 4403345 single base substitution C T upstream_gene_variant PRAD-CA 19 4388837 4388837 single base substitution C G intron_variant PRAD-CA 19 4401645 4401645 single base substitution A G upstream_gene_variant PRAD-UK 19 4384750 4384750 single base substitution G A intron_variant PRAD-UK 19 4384750 4384750 single base substitution G A upstream_gene_variant PRAD-UK 19 4397046 4397062 deletion of <=200bp AGAGATGTCACTTTCCA - intron_variant PRAD-UK 19 4397046 4397062 deletion of <=200bp AGAGATGTCACTTTCCA - upstream_gene_variant PRAD-US 19 4366548 4366548 single base substitution G A missense_variant A11V 32C>T PRAD-US 19 4366548 4366548 single base substitution G A missense_variant A46V 137C>T READ-US 19 4361648 4361648 single base substitution C T downstream_gene_variant READ-US 19 4361648 4361648 single base substitution C T synonymous_variant S288S 864G>A READ-US 19 4361648 4361648 single base substitution C T synonymous_variant S304S 912G>A READ-US 19 4361648 4361648 single base substitution C T synonymous_variant S352S 1056G>A READ-US 19 4362657 4362657 single base substitution C G downstream_gene_variant READ-US 19 4362657 4362657 single base substitution C G missense_variant E205Q 613G>C READ-US 19 4362657 4362657 single base substitution C G missense_variant E221Q 661G>C READ-US 19 4362657 4362657 single base substitution C G missense_variant E269Q 805G>C RECA-EU 19 4357785 4357785 single base substitution C G downstream_gene_variant RECA-EU 19 4369490 4369490 single base substitution A G intron_variant RECA-EU 19 4376983 4376983 single base substitution G C intron_variant RECA-EU 19 4379946 4379946 single base substitution T C intron_variant RECA-EU 19 4385776 4385776 single base substitution T A intron_variant RECA-EU 19 4392780 4392780 single base substitution A C intron_variant RECA-EU 19 4392780 4392780 single base substitution A C upstream_gene_variant SKCA-BR 19 4356270 4356270 single base substitution C T downstream_gene_variant SKCA-BR 19 4361080 4361080 single base substitution T A 3_prime_UTR_variant SKCA-BR 19 4361080 4361080 single base substitution T A downstream_gene_variant SKCA-BR 19 4361921 4361921 single base substitution A C downstream_gene_variant SKCA-BR 19 4361921 4361921 single base substitution A C intron_variant SKCA-BR 19 4362531 4362531 single base substitution G A downstream_gene_variant SKCA-BR 19 4362531 4362531 single base substitution G A intron_variant SKCA-BR 19 4365944 4365944 single base substitution G A downstream_gene_variant SKCA-BR 19 4365944 4365944 single base substitution G A intron_variant SKCA-BR 19 4366271 4366271 single base substitution G A downstream_gene_variant SKCA-BR 19 4366271 4366271 single base substitution G A intron_variant SKCA-BR 19 4367186 4367186 single base substitution A G intron_variant SKCA-BR 19 4367202 4367202 single base substitution T G intron_variant SKCA-BR 19 4376362 4376362 single base substitution C T intron_variant SKCA-BR 19 4376650 4376650 single base substitution G A intron_variant SKCA-BR 19 4378200 4378200 single base substitution C T intron_variant SKCA-BR 19 4379500 4379500 single base substitution T C intron_variant SKCA-BR 19 4382835 4382835 single base substitution G A intron_variant SKCA-BR 19 4382835 4382835 single base substitution G A upstream_gene_variant SKCA-BR 19 4382836 4382836 single base substitution G A intron_variant SKCA-BR 19 4382836 4382836 single base substitution G A upstream_gene_variant SKCA-BR 19 4384090 4384090 single base substitution T C intron_variant SKCA-BR 19 4384090 4384090 single base substitution T C upstream_gene_variant SKCA-BR 19 4386473 4386474 deletion of <=200bp CT - intron_variant SKCA-BR 19 4394123 4394124 deletion of <=200bp CA - intron_variant SKCA-BR 19 4394123 4394124 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 19 4402441 4402441 single base substitution C T upstream_gene_variant SKCA-BR 19 4402442 4402442 single base substitution C T upstream_gene_variant SKCA-BR 19 4402796 4402796 single base substitution A G upstream_gene_variant SKCA-BR 19 4404815 4404816 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 19 4404816 4404816 single base substitution T A upstream_gene_variant SKCM-US 19 4359234 4359234 single base substitution C T downstream_gene_variant SKCM-US 19 4361744 4361744 single base substitution C T downstream_gene_variant SKCM-US 19 4361744 4361744 single base substitution C T synonymous_variant E256E 768G>A SKCM-US 19 4361744 4361744 single base substitution C T synonymous_variant E272E 816G>A SKCM-US 19 4361744 4361744 single base substitution C T synonymous_variant E320E 960G>A SKCM-US 19 4363385 4363385 single base substitution G A downstream_gene_variant SKCM-US 19 4363385 4363385 single base substitution G A missense_variant A173V 518C>T SKCM-US 19 4363385 4363385 single base substitution G A missense_variant A189V 566C>T SKCM-US 19 4363385 4363385 single base substitution G A missense_variant A237V 710C>T SKCM-US 19 4363408 4363408 single base substitution G A downstream_gene_variant SKCM-US 19 4363408 4363408 single base substitution G A synonymous_variant A165A 495C>T SKCM-US 19 4363408 4363408 single base substitution G A synonymous_variant A181A 543C>T SKCM-US 19 4363408 4363408 single base substitution G A synonymous_variant A229A 687C>T SKCM-US 19 4363800 4363800 single base substitution C T downstream_gene_variant SKCM-US 19 4363800 4363800 single base substitution C T missense_variant E117K 349G>A SKCM-US 19 4363800 4363800 single base substitution C T missense_variant E133K 397G>A SKCM-US 19 4363800 4363800 single base substitution C T missense_variant E181K 541G>A SKCM-US 19 4364151 4364151 single base substitution G A downstream_gene_variant SKCM-US 19 4364151 4364151 single base substitution G A intron_variant SKCM-US 19 4364151 4364151 single base substitution G A synonymous_variant I133I 399C>T SKCM-US 19 4364151 4364151 single base substitution G A synonymous_variant I85I 255C>T SKCM-US 19 4364151 4364151 single base substitution G A synonymous_variant I98I 294C>T SKCM-US 19 4364187 4364187 single base substitution C A downstream_gene_variant SKCM-US 19 4364187 4364187 single base substitution C A intron_variant SKCM-US 19 4364187 4364187 single base substitution C A missense_variant M121I 363G>T SKCM-US 19 4364187 4364187 single base substitution C A missense_variant M73I 219G>T SKCM-US 19 4364187 4364187 single base substitution C A missense_variant M86I 258G>T SKCM-US 19 4365544 4365544 single base substitution G A downstream_gene_variant SKCM-US 19 4365544 4365544 single base substitution G A intron_variant SKCM-US 19 4365544 4365544 single base substitution G A missense_variant S54L 161C>T SKCM-US 19 4365544 4365544 single base substitution G A missense_variant S89L 266C>T SKCM-US 19 4365621 4365621 single base substitution G A downstream_gene_variant SKCM-US 19 4365621 4365621 single base substitution G A intron_variant SKCM-US 19 4365621 4365621 single base substitution G A splice_region_variant STAD-US 19 4357345 4357345 single base substitution C T downstream_gene_variant STAD-US 19 4357372 4357372 single base substitution G A downstream_gene_variant STAD-US 19 4357406 4357406 single base substitution G A downstream_gene_variant STAD-US 19 4361603 4361603 single base substitution C T downstream_gene_variant STAD-US 19 4361603 4361603 single base substitution C T synonymous_variant P303P 909G>A STAD-US 19 4361603 4361603 single base substitution C T synonymous_variant P319P 957G>A STAD-US 19 4361603 4361603 single base substitution C T synonymous_variant P367P 1101G>A STAD-US 19 4361738 4361738 single base substitution G A downstream_gene_variant STAD-US 19 4361738 4361738 single base substitution G A synonymous_variant D258D 774C>T STAD-US 19 4361738 4361738 single base substitution G A synonymous_variant D274D 822C>T STAD-US 19 4361738 4361738 single base substitution G A synonymous_variant D322D 966C>T STAD-US 19 4361746 4361746 single base substitution C T downstream_gene_variant STAD-US 19 4361746 4361746 single base substitution C T missense_variant E256K 766G>A STAD-US 19 4361746 4361746 single base substitution C T missense_variant E272K 814G>A STAD-US 19 4361746 4361746 single base substitution C T missense_variant E320K 958G>A STAD-US 19 4361778 4361778 single base substitution G A downstream_gene_variant STAD-US 19 4361778 4361778 single base substitution G A missense_variant P245L 734C>T STAD-US 19 4361778 4361778 single base substitution G A missense_variant P261L 782C>T STAD-US 19 4361778 4361778 single base substitution G A missense_variant P309L 926C>T STAD-US 19 4362734 4362734 single base substitution C A downstream_gene_variant STAD-US 19 4362734 4362734 single base substitution C A splice_acceptor_variant STAD-US 19 4363832 4363832 single base substitution T C downstream_gene_variant STAD-US 19 4363832 4363832 single base substitution T C missense_variant Y106C 317A>G STAD-US 19 4363832 4363832 single base substitution T C missense_variant Y122C 365A>G STAD-US 19 4363832 4363832 single base substitution T C missense_variant Y135C 404A>G STAD-US 19 4363832 4363832 single base substitution T C missense_variant Y170C 509A>G STAD-US 19 4363850 4363850 single base substitution C T downstream_gene_variant STAD-US 19 4363850 4363850 single base substitution C T missense_variant R100H 299G>A STAD-US 19 4363850 4363850 single base substitution C T missense_variant R116H 347G>A STAD-US 19 4363850 4363850 single base substitution C T missense_variant R129H 386G>A STAD-US 19 4363850 4363850 single base substitution C T missense_variant R164H 491G>A STAD-US 19 4363850 4363850 single base substitution C T synonymous_variant ?129 STAD-US 19 4365543 4365543 single base substitution C T downstream_gene_variant STAD-US 19 4365543 4365543 single base substitution C T intron_variant STAD-US 19 4365543 4365543 single base substitution C T synonymous_variant S54S 162G>A STAD-US 19 4365543 4365543 single base substitution C T synonymous_variant S89S 267G>A STAD-US 19 4365576 4365576 single base substitution C A downstream_gene_variant STAD-US 19 4365576 4365576 single base substitution C A intron_variant STAD-US 19 4365576 4365576 single base substitution C A synonymous_variant R43R 129G>T STAD-US 19 4365576 4365576 single base substitution C A synonymous_variant R78R 234G>T STAD-US 19 4365591 4365591 single base substitution C A downstream_gene_variant STAD-US 19 4365591 4365591 single base substitution C A intron_variant STAD-US 19 4365591 4365591 single base substitution C A synonymous_variant T38T 114G>T STAD-US 19 4365591 4365591 single base substitution C A synonymous_variant T73T 219G>T STAD-US 19 4366969 4366969 single base substitution C A 5_prime_UTR_variant STAD-US 19 4366969 4366969 single base substitution C A missense_variant G23V 68G>T THCA-SA 19 4357309 4357309 single base substitution A G downstream_gene_variant UCEC-US 19 4357325 4357325 single base substitution C T downstream_gene_variant UCEC-US 19 4359952 4359952 single base substitution T C downstream_gene_variant UCEC-US 19 4359958 4359958 single base substitution G A downstream_gene_variant UCEC-US 19 4359979 4359979 single base substitution G A downstream_gene_variant UCEC-US 19 4361702 4361702 single base substitution C T downstream_gene_variant UCEC-US 19 4361702 4361702 single base substitution C T synonymous_variant T270T 810G>A UCEC-US 19 4361702 4361702 single base substitution C T synonymous_variant T286T 858G>A UCEC-US 19 4361702 4361702 single base substitution C T synonymous_variant T334T 1002G>A UCEC-US 19 4362632 4362632 single base substitution C T downstream_gene_variant UCEC-US 19 4362632 4362632 single base substitution C T missense_variant C213Y 638G>A UCEC-US 19 4362632 4362632 single base substitution C T missense_variant C229Y 686G>A UCEC-US 19 4362632 4362632 single base substitution C T missense_variant C277Y 830G>A UCEC-US 19 4362702 4362702 single base substitution C T downstream_gene_variant UCEC-US 19 4362702 4362702 single base substitution C T missense_variant E190K 568G>A UCEC-US 19 4362702 4362702 single base substitution C T missense_variant E206K 616G>A UCEC-US 19 4362702 4362702 single base substitution C T missense_variant E254K 760G>A UCEC-US 19 4363446 4363446 single base substitution C T downstream_gene_variant UCEC-US 19 4363446 4363446 single base substitution C T missense_variant A153T 457G>A UCEC-US 19 4363446 4363446 single base substitution C T missense_variant A169T 505G>A UCEC-US 19 4363446 4363446 single base substitution C T missense_variant A217T 649G>A UCEC-US 19 4365495 4365495 single base substitution G A downstream_gene_variant UCEC-US 19 4365495 4365495 single base substitution G A intron_variant UCEC-US 19 4365495 4365495 single base substitution G A synonymous_variant G105G 315C>T UCEC-US 19 4365495 4365495 single base substitution G A synonymous_variant G70G 210C>T UCEC-US 19 4365610 4365610 single base substitution T A downstream_gene_variant UCEC-US 19 4365610 4365610 single base substitution T A intron_variant UCEC-US 19 4365610 4365610 single base substitution T A missense_variant K32M 95A>T UCEC-US 19 4365610 4365610 single base substitution T A missense_variant K67M 200A>T UCEC-US 19 4366974 4366974 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 19 4366974 4366974 single base substitution G A synonymous_variant V21V 63C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-B5-A0K9-01 COSM997574 c.1002G>A p.T334T Substitution - coding silent 19:4361705-4361705 - TCGA-BR-4256-01 COSM4078943 c.267G>A p.S89S Substitution - coding silent 19:4365546-4365546 - RC-4 COSM328588 c.550C>T p.R184C Substitution - Missense 19:4363794-4363794 - T2932 COSM3288658 c.521G>A p.R174Q Substitution - Missense 19:4363823-4363823 - TCGA-A5-A0VP-01 COSM997580 c.315C>T p.G105G Substitution - coding silent 19:4365498-4365498 - TCGA-CG-5728-01 COSM4078940 c.926C>T p.P309L Substitution - Missense 19:4361781-4361781 - B105-Tumor COSM1750859 c.771C>G p.P257P Substitution - coding silent 19:4362694-4362694 - RC-10 COSM328588 c.550C>T p.R184C Substitution - Missense 19:4363794-4363794 - TCGA-AN-A046-01 COSM3823295 c.228G>T p.K76N Substitution - Missense 19:4365585-4365585 - CAL27 COSM4593777 c.922C>T p.Q308* Substitution - Nonsense 19:4361785-4361785 - TCGA-DD-A113-01 COSM4925172 c.946G>C p.D316H Substitution - Missense 19:4361761-4361761 - AOCS-155-3-5 COSM4127686 c.661G>A p.A221T Substitution - Missense 19:4363437-4363437 - TCGA-GF-A6C9-06 COSM4903694 c.189C>T p.A63A Substitution - coding silent 19:4365624-4365624 - YUSAG COSM1711626 c.122A>G p.D41G Substitution - Missense 19:4366566-4366566 - RC-11 COSM328588 c.550C>T p.R184C Substitution - Missense 19:4363794-4363794 - C086 COSM5538874 c.1055C>T p.S352L Substitution - Missense 19:4361652-4361652 - TCGA-HJ-7597-01 COSM4078944 c.234G>T p.R78R Substitution - coding silent 19:4365579-4365579 - PDA_068 COSM5001569 c.355G>T p.E119* Substitution - Nonsense 19:4364198-4364198 - T3503 COSM1471019 c.137C>T p.A46V Substitution - Missense 19:4366551-4366551 - TCGA-EB-A553-01 COSM3535155 c.363G>T p.M121I Substitution - Missense 19:4364190-4364190 - TCGA-AK-3461-01 COSM3362897 c.675C>T p.Y225Y Substitution - coding silent 19:4363423-4363423 - PT17_1 COSM3288665 c.193C>T p.R65W Substitution - Missense 19:4365620-4365620 - Case2d COSM1717084 c.925C>T p.P309S Substitution - Missense 19:4361782-4361782 - BCB325T COSM4949736 c.271G>A p.G91R Substitution - Missense 19:4365542-4365542 - TCGA-D9-A6E9-06 COSM4399493 c.710C>T p.A237V Substitution - Missense 19:4363388-4363388 - RC-5 COSM328588 c.550C>T p.R184C Substitution - Missense 19:4363794-4363794 - 425 COSM4432740 c.313_317delGGCGG p.G105fs*6 Deletion - Frameshift 19:4365496-4365500 - TCGA-CD-A487-01 COSM4078938 c.1101G>A p.P367P Substitution - coding silent 19:4361606-4361606 - LS411 COSM3288655 c.599G>A p.S200N Substitution - Missense 19:4363745-4363745 - TCGA-FD-A3SR-01 COSM3797184 c.812C>T p.S271F Substitution - Missense 19:4362653-4362653 - TCGA-EE-A3AE-06 COSM3535154 c.399C>T p.I133I Substitution - coding silent 19:4364154-4364154 - SK-MEL-2 COSM1680527 c.13G>A p.G5R Substitution - Missense 19:4400356-4400356 - RC-14 COSM328588 c.550C>T p.R184C Substitution - Missense 19:4363794-4363794 - pfg016T COSM1641181 c.1092G>A p.V364V Substitution - coding silent 19:4361615-4361615 - sysucc-1370T COSM3288631 c.1068G>A p.P356P Substitution - coding silent 19:4361639-4361639 - tumor_4189035 COSM5949528 c.520C>T p.R174W Substitution - Missense 19:4363824-4363824 - BCB325T COSM4949736 c.271G>A p.G91R Substitution - Missense 19:4365542-4365542 - 587278 COSM1225570 c.194G>A p.R65Q Substitution - Missense 19:4365619-4365619 - TCGA-66-2773-01 COSM712578 c.999C>G p.I333M Substitution - Missense 19:4361708-4361708 - RC-8 COSM328588 c.550C>T p.R184C Substitution - Missense 19:4363794-4363794 - TCGA-AK-3428-01 COSM3362898 c.674A>G p.Y225C Substitution - Missense 19:4363424-4363424 - RC-3 COSM328588 c.550C>T p.R184C Substitution - Missense 19:4363794-4363794 - TCGA-EE-A29E-06 COSM3535151 c.960G>A p.E320E Substitution - coding silent 19:4361747-4361747 - TCGA-A8-A09R-01 COSM5833758 c.369_370delCC p.L124fs*17 Deletion - Frameshift 19:4364183-4364184 - TCGA-BR-6452-01 COSM4078945 c.219G>T p.T73T Substitution - coding silent 19:4365594-4365594 - H1155 COSM1195155 c.910C>T p.P304S Substitution - Missense 19:4362329-4362329 - TCGA-CM-6674-01 COSM1393313 c.901C>T p.R301W Substitution - Missense 19:4362338-4362338 - HCC043T COSM5811995 c.913C>T p.P305S Substitution - Missense 19:4361794-4361794 - TCGA-JW-A5VL-01 COSM4847926 c.888C>G p.I296M Substitution - Missense 19:4362351-4362351 - 405 COSM4430042 c.165C>T p.I55I Substitution - coding silent 19:4366523-4366523 - TCGA-G4-6588-01 COSM1393314 c.282C>T p.G94G Substitution - coding silent 19:4365531-4365531 - TCGA-AP-A051-01 COSM997579 c.649G>A p.A217T Substitution - Missense 19:4363449-4363449 - PCSI_0048_Pa_P_526 COSM216458 c.966C>T p.D322D Substitution - coding silent 19:4361741-4361741 - UM-SCC-11B COSM4598040 c.296G>A p.R99H Substitution - Missense 19:4365517-4365517 - CSCC-20-T COSM4561604 c.890G>A p.R297Q Substitution - Missense 19:4362349-4362349 - T3021 COSM4725659 c.114G>T p.K38N Substitution - Missense 19:4366926-4366926 - RC-12 COSM328588 c.550C>T p.R184C Substitution - Missense 19:4363794-4363794 - TCGA-BS-A0UJ-01 COSM997581 c.200A>T p.K67M Substitution - Missense 19:4365613-4365613 - TCGA-A8-A09R-01 COSM5833757 c.600_601insC p.M201fs*8 Insertion - Frameshift 19:4363743-4363744 - CHC218T COSM4801025 c.751C>T p.P251S Substitution - Missense 19:4362714-4362714 - TCGA-EE-A3AC-06 COSM3535153 c.541G>A p.E181K Substitution - Missense 19:4363803-4363803 - TCGA-AP-A056-01 COSM997582 c.63C>T p.V21V Substitution - coding silent 19:4366977-4366977 - AA1934 COSM79283 c.868C>T p.R290* Substitution - Nonsense 19:4362371-4362371 - 587342 COSM1225571 c.427C>A p.L143I Substitution - Missense 19:4364126-4364126 - RC-7 COSM328588 c.550C>T p.R184C Substitution - Missense 19:4363794-4363794 - TCGA-EI-6882-01 COSM3422888 c.1056G>A p.S352S Substitution - coding silent 19:4361651-4361651 - YUMER COSM1711625 c.491G>A p.R164H Substitution - Missense 19:4363853-4363853 - TCGA-18-3407-01 COSM712577 c.73G>T p.E25* Substitution - Nonsense 19:4366967-4366967 - TCGA-HU-A4GQ-01 COSM1711625 c.491G>A p.R164H Substitution - Missense 19:4363853-4363853 - TCGA-G2-A2EF-01 COSM1304696 c.484G>A p.E162K Substitution - Missense 19:4363860-4363860 - TCGA-AA-3947-01 COSM296867 c.192G>A p.S64S Substitution - coding silent 19:4365621-4365621 - TCGA-EY-A1GS-01 COSM997577 c.830G>A p.C277Y Substitution - Missense 19:4362635-4362635 - RC-6 COSM328588 c.550C>T p.R184C Substitution - Missense 19:4363794-4363794 - BD124T COSM5493774 c.994G>A p.V332I Substitution - Missense 19:4361713-4361713 - KPOPBR-39-T COSM5964637 c.223T>C p.S75P Substitution - Missense 19:4365590-4365590 - TCGA-G2-A2EF-01 COSM1304697 c.444G>A p.E148E Substitution - coding silent 19:4364109-4364109 - TCGA-EJ-7317-01 COSM1471019 c.137C>T p.A46V Substitution - Missense 19:4366551-4366551 - TCGA-CG-4442-01 COSM4078946 c.68G>T p.G23V Substitution - Missense 19:4366972-4366972 - HCC49T COSM1612342 c.787T>G p.F263V Substitution - Missense 19:4362678-4362678 - TCGA-GC-A3RC-01 COSM3797185 c.70G>T p.A24S Substitution - Missense 19:4366970-4366970 - PCSI0048 COSM216458 c.966C>T p.D322D Substitution - coding silent 19:4361741-4361741 - TCGA-13-0807-01 COSM79283 c.868C>T p.R290* Substitution - Nonsense 19:4362371-4362371 - TCGA-GV-A3QI-01 COSM1304694 c.993C>T p.D331D Substitution - coding silent 19:4361714-4361714 - RC-2 COSM328588 c.550C>T p.R184C Substitution - Missense 19:4363794-4363794 - LUAD-NYU1101 COSM369284 c.364A>T p.K122* Substitution - Nonsense 19:4364189-4364189 - CHC218T COSM4801025 c.751C>T p.P251S Substitution - Missense 19:4362714-4362714 - HCC49 COSM1612342 c.787T>G p.F263V Substitution - Missense 19:4362678-4362678 - TCGA-EE-A2GO-06 COSM3535152 c.687C>T p.A229A Substitution - coding silent 19:4363411-4363411 - RK308_C01 COSM3742988 c.308A>G p.E103G Substitution - Missense 19:4365505-4365505 - YUPAT COSM1686773 c.854-1G>A p.? Unknown 19:4362386-4362386 - TCGA-CG-5726-01 COSM4078942 c.509A>G p.Y170C Substitution - Missense 19:4363835-4363835 - TCGA-CG-5728-01 COSM4078939 c.958G>A p.E320K Substitution - Missense 19:4361749-4361749 - SC_9047 COSM5549370 c.840C>A p.A280A Substitution - coding silent 19:4362625-4362625 - RC-13 COSM328588 c.550C>T p.R184C Substitution - Missense 19:4363794-4363794 - TCGA-FW-A3R5-06 COSM3892757 c.266C>T p.S89L Substitution - Missense 19:4365547-4365547 - 73 COSM5967069 c.45+2T>G p.? Unknown 19:4400322-4400322 - PD11383a COSM5786369 c.450C>G p.D150E Substitution - Missense 19:4364103-4364103 - TCGA-DK-A3IK-01 COSM1304695 c.564G>C p.E188D Substitution - Missense 19:4363780-4363780 - B105 COSM1750859 c.771C>G p.P257P Substitution - coding silent 19:4362694-4362694 - TCGA-BS-A0TE-01 COSM997578 c.760G>A p.E254K Substitution - Missense 19:4362705-4362705 - 108477 COSM95248 c.673T>G p.Y225D Substitution - Missense 19:4363425-4363425 - 71 COSM5744492 c.316G>A p.G106S Substitution - Missense 19:4365497-4365497 - Case2a COSM1717084 c.925C>T p.P309S Substitution - Missense 19:4361782-4361782 - TCGA-C5-A1BK-01 COSM4826267 c.981C>T p.F327F Substitution - coding silent 19:4361726-4361726 - TCGA-EI-7002-01 COSM3422889 c.805G>C p.E269Q Substitution - Missense 19:4362660-4362660 - RC-18 COSM328588 c.550C>T p.R184C Substitution - Missense 19:4363794-4363794 - CSCC-44-T COSM4447118 c.910+3G>A p.? Unknown 19:4362326-4362326 - YUKAT COSM5389990 c.1095C>T p.P365P Substitution - coding silent 19:4361612-4361612 - RC-T COSM328588 c.550C>T p.R184C Substitution - Missense 19:4363794-4363794 - TCGA-AD-6889-01 COSM1393315 c.161C>T p.T54I Substitution - Missense 19:4366527-4366527 - TCGA-HU-A4H8-01 COSM4078941 c.729-1G>T p.? Unknown 19:4362737-4362737 - RC-1 COSM328588 c.550C>T p.R184C Substitution - Missense 19:4363794-4363794 - TCGA-BR-4361-01 COSM216458 c.966C>T p.D322D Substitution - coding silent 19:4361741-4361741 - TCGA-A8-A09R-01 COSM5833759 c.367delC p.R123fs*5 Deletion - Frameshift 19:4364186-4364186 - ESCC-069T COSM3938161 c.191C>T p.S64L Substitution - Missense 19:4365622-4365622 - PCSI_0048_Pa_P COSM216458 c.966C>T p.D322D Substitution - coding silent 19:4361741-4361741 - YURAY COSM5389991 c.51C>T p.V17V Substitution - coding silent 19:4366989-4366989 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.97611;Hs.97616 19p13.3 601768 2445822|CGAP|BC001270|C/T|non-coding||2266|Validated; 2445822|CGAP|BC098565|C/T|non-coding||2291|Validated; 2445824|CGAP|BC001270|G/T|non-coding||2288|Candidate; 2445824|CGAP|BC098565|G/T|non-coding||2313|Candidate; 2445828|CGAP|BC001270|C/G|coding|Pro257Pro|876|Validated; 2445828|CGAP|BC098565|C/G|coding|Pro257Pro|901|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G SpliceDonorSNV . c.114+2T>C 19 4366921 HNSC C A Nonsense p.E25* c.73G>T 19 4366964 LUSC C G Missense p.E188D c.564G>C 19 4363777 BLCA C T Missense p.C277Y c.830G>A 19 4362632 UCEC C T Missense p.E162K c.484G>A 19 4363857 BLCA C T Missense p.E181K c.541G>A 19 4363800 CM C T Missense p.E254K c.760G>A 19 4362702 UCEC C T Missense p.E320K c.958G>A 19 4361746 STAD C T Missense p.G94D c.281G>A 19 4365529 CM C T Synonymous p.E148E c.444G>A 19 4364106 BLCA C T Synonymous p.S89S c.267G>A 19 4365543 STAD C T Synonymous p.T334T c.1002G>A 19 4361702 UCEC C T Synonymous p.V364V c.1092G>A 19 4361612 STAD G A Missense p.A46V c.137C>T 19 4366548 PRAD G A Missense p.P309L c.926C>T 19 4361778 STAD G A Nonsense p.R290* c.868C>T 19 4362368 OV G A Synonymous p.A229A c.687C>T 19 4363408 CM G A Synonymous p.D322D c.966C>T 19 4361738 PAAD G A Synonymous p.D331D c.993C>T 19 4361711 BLCA G A Synonymous p.G105G c.315C>T 19 4365495 UCEC G A Synonymous p.I133I c.399C>T 19 4364151 CM G A Synonymous p.L68L c.202C>T 19 4365608 HNSC G A Synonymous p.Y225Y c.675C>T 19 4363420 RCCC G C Missense p.I333M c.999C>G 19 4361705 LUSC GG AA Synonymous p.(=) c.471_472delinsTT 19 4363869 CM T C Missense p.Y225C c.674A>G 19 4363421 RCCC