Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 1 192992088 192992088 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 g.chr1:192992088C>T c.814G>A c.(814-816)Gaa>Aaa p.E272K BLCA 1 193020927 193020927 + Nonsense_Mutation SNP C C A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 g.chr1:193020927C>A c.97G>T c.(97-99)Gaa>Taa p.E33* BLCA 1 193020932 193020932 + Missense_Mutation SNP T T G TCGA-UY-A78N-01A-12D-A339-08 TCGA-UY-A78N-10A-01D-A339-08 g.chr1:193020932T>G c.92A>C c.(91-93)cAa>cCa p.Q31P BLCA 1 193028361 193028361 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 g.chr1:193028361G>A c.30C>T c.(28-30)ctC>ctT p.L10L BRCA 1 192992148 192992148 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr1:192992148G>C c.754C>G c.(754-756)Caa>Gaa p.Q252E BRCA 1 192998533 192998533 + Missense_Mutation SNP T T C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 g.chr1:192998533T>C c.419A>G c.(418-420)cAc>cGc p.H140R COAD 1 192998523 192998523 + Silent SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:192998523G>A c.429C>T c.(427-429)ttC>ttT p.F143F COAD 1 193018898 193018898 + Missense_Mutation SNP T T C TCGA-AZ-6606-01A-11D-1835-10 TCGA-AZ-6606-11A-01D-1835-10 g.chr1:193018898T>C c.224A>G c.(223-225)gAc>gGc p.D75G COAD 1 193018898 193018898 + Missense_Mutation SNP T T C TCGA-CK-5912-01A-11D-1650-10 TCGA-CK-5912-10A-01D-1650-10 g.chr1:193018898T>C c.224A>G c.(223-225)gAc>gGc p.D75G COAD 1 193018904 193018904 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr1:193018904C>T c.218G>A c.(217-219)cGa>cAa p.R73Q COAD 1 193018905 193018905 + Nonsense_Mutation SNP G G A TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr1:193018905G>A c.217C>T c.(217-219)Cga>Tga p.R73* COADREAD 1 192985507 192985507 + Missense_Mutation SNP C C T TCGA-AG-A015-01A-01W-A005-10 TCGA-AG-A015-10A-01W-A005-10 g.chr1:192985507C>T c.964G>A c.(964-966)Gca>Aca p.A322T COADREAD 1 192998523 192998523 + Silent SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:192998523G>A c.429C>T c.(427-429)ttC>ttT p.F143F COADREAD 1 193018898 193018898 + Missense_Mutation SNP T T C TCGA-AZ-6606-01A-11D-1835-10 TCGA-AZ-6606-11A-01D-1835-10 g.chr1:193018898T>C c.224A>G c.(223-225)gAc>gGc p.D75G COADREAD 1 193018898 193018898 + Missense_Mutation SNP T T C TCGA-CK-5912-01A-11D-1650-10 TCGA-CK-5912-10A-01D-1650-10 g.chr1:193018898T>C c.224A>G c.(223-225)gAc>gGc p.D75G COADREAD 1 193018904 193018904 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr1:193018904C>T c.218G>A c.(217-219)cGa>cAa p.R73Q COADREAD 1 193018905 193018905 + Nonsense_Mutation SNP G G A TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr1:193018905G>A c.217C>T c.(217-219)Cga>Tga p.R73* ESCA 1 192998780 192998780 + Missense_Mutation SNP T T C TCGA-V5-A7RC-01B-11D-A403-09 TCGA-V5-A7RC-10A-01D-A403-09 g.chr1:192998780T>C c.254A>G c.(253-255)aAt>aGt p.N85S HNSC 1 192985497 192985497 + Missense_Mutation SNP G G C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 g.chr1:192985497G>C c.974C>G c.(973-975)gCt>gGt p.A325G HNSC 1 192998768 192998768 + Missense_Mutation SNP G G C TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 g.chr1:192998768G>C c.266C>G c.(265-267)gCt>gGt p.A89G HNSC 1 193028325 193028325 + Missense_Mutation SNP A A C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 g.chr1:193028325A>C c.66T>G c.(64-66)atT>atG p.I22M HNSC 1 193028340 193028340 + Silent SNP G G C TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 g.chr1:193028340G>C c.51C>G c.(49-51)gtC>gtG p.V17V LIHC 1 192992059 192992059 + Nonsense_Mutation SNP G G T TCGA-DD-AACW-01A-11D-A40R-10 TCGA-DD-AACW-10A-01D-A40U-10 g.chr1:192992059G>T c.843C>A c.(841-843)taC>taA p.Y281* LIHC 1 192993077 192993077 + Splice_Site SNP C C A TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr1:192993077C>A c.e8-1 LUAD 1 192985498 192985498 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 g.chr1:192985498C>A c.973G>T c.(973-975)Gct>Tct p.A325S LUAD 1 192992151 192992151 + Missense_Mutation SNP C C T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 g.chr1:192992151C>T c.751G>A c.(751-753)Gat>Aat p.D251N LUAD 1 192998323 192998323 + Missense_Mutation SNP C C T TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 g.chr1:192998323C>T c.551G>A c.(550-552)gGa>gAa p.G184E LUAD 1 192998369 192998369 + Missense_Mutation SNP C C G TCGA-55-8507-01A-11D-2393-08 TCGA-55-8507-10A-01D-2393-08 g.chr1:192998369C>G c.505G>C c.(505-507)Gtt>Ctt p.V169L LUAD 1 192998517 192998517 + Splice_Site DEL C C - TCGA-99-8025-01A-11D-2238-08 TCGA-99-8025-10A-01D-2238-08 g.chr1:192998517delC c.e5+1 LUAD 1 192998665 192998665 + Silent SNP T T A TCGA-73-4668-01A-01D-1265-08 TCGA-73-4668-11A-01D-1265-08 g.chr1:192998665T>A c.369A>T c.(367-369)gcA>gcT p.A123A LUAD 1 192998709 192998709 + Frame_Shift_Del DEL C C - TCGA-99-8032-01A-11D-2238-08 TCGA-99-8032-10A-01D-2238-08 g.chr1:192998709delC c.325delG c.(325-327)gagfs p.E109fs LUSC 1 192993077 192993077 + Splice_Site SNP C C A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr1:192993077C>A c.e8-1 LUSC 1 192998516 192998516 + Splice_Site SNP A A T TCGA-21-5784-01A-01D-1632-08 TCGA-21-5784-10A-01D-1632-08 g.chr1:192998516A>T c.e5+1 LUSC 1 193018982 193018982 + Splice_Site SNP C C A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 g.chr1:193018982C>A c.e3-1 LUSC 1 193028383 193028383 + Missense_Mutation SNP C C A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 g.chr1:193028383C>A c.8G>T c.(7-9)gGc>gTc p.G3V OV 1 193018899 193018899 + Missense_Mutation SNP C C G TCGA-13-0904-01A-02W-0420-08 TCGA-13-0904-10A-01D-0399-08 g.chr1:193018899C>G c.223G>C c.(223-225)Gac>Cac p.D75H READ 1 192985507 192985507 + Missense_Mutation SNP C C T TCGA-AG-A015-01A-01W-A005-10 TCGA-AG-A015-10A-01W-A005-10 g.chr1:192985507C>T c.964G>A c.(964-966)Gca>Aca p.A322T SKCM 1 192998407 192998407 + Missense_Mutation SNP G G A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr1:192998407G>A c.467C>T c.(466-468)tCa>tTa p.S156L SKCM 1 193018906 193018906 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr1:193018906G>A c.216C>T c.(214-216)tcC>tcT p.S72S

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 1 192993019 192993019 single base substitution C T missense_variant M105I 315G>A BLCA-CN 1 192993019 192993019 single base substitution C T missense_variant M119I 357G>A BLCA-CN 1 192993019 192993019 single base substitution C T missense_variant M11I 33G>A BLCA-CN 1 192993019 192993019 single base substitution C T missense_variant M17I 51G>A BLCA-CN 1 192993019 192993019 single base substitution C T missense_variant M220I 660G>A BLCA-CN 1 192993019 192993019 single base substitution C T missense_variant M229I 687G>A BLCA-CN 1 192993019 192993019 single base substitution C T missense_variant M256I 768G>A BLCA-CN 1 192993019 192993019 single base substitution C T missense_variant M268I 804G>A BLCA-CN 1 192993019 192993019 single base substitution C T missense_variant M84I 252G>A BLCA-US 1 193020927 193020927 single base substitution C A 5_prime_UTR_variant BLCA-US 1 193020927 193020927 single base substitution C A exon_variant BLCA-US 1 193020927 193020927 single base substitution C A stop_gained E164* 490G>T BLCA-US 1 193020927 193020927 single base substitution C A stop_gained E24* 70G>T BLCA-US 1 193020927 193020927 single base substitution C A stop_gained E33* 97G>T BLCA-US 1 193020927 193020927 single base substitution C A stop_gained E45* 133G>T BLCA-US 1 193028361 193028361 single base substitution G A 5_prime_UTR_variant BLCA-US 1 193028361 193028361 single base substitution G A intron_variant BLCA-US 1 193028361 193028361 single base substitution G A synonymous_variant L10L 30C>T BLCA-US 1 193028361 193028361 single base substitution G A synonymous_variant L22L 66C>T BLCA-US 1 193028361 193028361 single base substitution G A upstream_gene_variant BRCA-EU 1 192977509 192977509 single base substitution G C downstream_gene_variant BRCA-EU 1 192978066 192978066 single base substitution C A downstream_gene_variant BRCA-EU 1 192980145 192980145 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 192980413 192980413 single base substitution A C downstream_gene_variant BRCA-EU 1 192980627 192980627 single base substitution G A downstream_gene_variant BRCA-EU 1 192980969 192980969 single base substitution C G downstream_gene_variant BRCA-EU 1 192981737 192981737 single base substitution T A 3_prime_UTR_variant BRCA-EU 1 192981737 192981737 single base substitution T A downstream_gene_variant BRCA-EU 1 192981784 192981784 single base substitution C A 3_prime_UTR_variant BRCA-EU 1 192981784 192981784 single base substitution C A downstream_gene_variant BRCA-EU 1 192981893 192981893 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 192981893 192981893 single base substitution C T downstream_gene_variant BRCA-EU 1 192982016 192982016 single base substitution G T 3_prime_UTR_variant BRCA-EU 1 192982016 192982016 single base substitution G T downstream_gene_variant BRCA-EU 1 192982085 192982085 single base substitution C A 3_prime_UTR_variant BRCA-EU 1 192982085 192982085 single base substitution C A downstream_gene_variant BRCA-EU 1 192982786 192982786 single base substitution C G 3_prime_UTR_variant BRCA-EU 1 192982786 192982786 single base substitution C G downstream_gene_variant BRCA-EU 1 192983058 192983058 single base substitution T C 3_prime_UTR_variant BRCA-EU 1 192983058 192983058 single base substitution T C downstream_gene_variant BRCA-EU 1 192983405 192983405 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 192983405 192983405 single base substitution G A downstream_gene_variant BRCA-EU 1 192983615 192983615 single base substitution T C 3_prime_UTR_variant BRCA-EU 1 192983615 192983615 single base substitution T C downstream_gene_variant BRCA-EU 1 192984389 192984389 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 192984389 192984389 single base substitution G A downstream_gene_variant BRCA-EU 1 192984779 192984779 single base substitution G C 3_prime_UTR_variant BRCA-EU 1 192984779 192984779 single base substitution G C downstream_gene_variant BRCA-EU 1 192985963 192985963 single base substitution T C downstream_gene_variant BRCA-EU 1 192985963 192985963 single base substitution T C intron_variant BRCA-EU 1 192986251 192986251 single base substitution G T downstream_gene_variant BRCA-EU 1 192986251 192986251 single base substitution G T intron_variant BRCA-EU 1 192986822 192986822 single base substitution C T downstream_gene_variant BRCA-EU 1 192986822 192986822 single base substitution C T intron_variant BRCA-EU 1 192987685 192987685 single base substitution C G 3_prime_UTR_variant BRCA-EU 1 192987685 192987685 single base substitution C G downstream_gene_variant BRCA-EU 1 192987685 192987685 single base substitution C G intron_variant BRCA-EU 1 192989005 192989005 single base substitution T C downstream_gene_variant BRCA-EU 1 192989005 192989005 single base substitution T C intron_variant BRCA-EU 1 192991030 192991030 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 192991030 192991030 deletion of <=200bp T - intron_variant BRCA-EU 1 192992927 192992927 single base substitution G C intron_variant BRCA-EU 1 192993147 192993147 single base substitution C T intron_variant BRCA-EU 1 192993147 192993147 single base substitution C T upstream_gene_variant BRCA-EU 1 192993203 192993203 single base substitution T C intron_variant BRCA-EU 1 192993203 192993203 single base substitution T C upstream_gene_variant BRCA-EU 1 192993383 192993383 single base substitution A C intron_variant BRCA-EU 1 192993383 192993383 single base substitution A C upstream_gene_variant BRCA-EU 1 192993515 192993515 single base substitution C G intron_variant BRCA-EU 1 192993515 192993515 single base substitution C G upstream_gene_variant BRCA-EU 1 192993543 192993543 single base substitution G A intron_variant BRCA-EU 1 192993543 192993543 single base substitution G A upstream_gene_variant BRCA-EU 1 192994275 192994275 deletion of <=200bp A - intron_variant BRCA-EU 1 192994275 192994275 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 192994743 192994743 single base substitution G T intron_variant BRCA-EU 1 192994743 192994743 single base substitution G T upstream_gene_variant BRCA-EU 1 192994744 192994744 single base substitution C T intron_variant BRCA-EU 1 192994744 192994744 single base substitution C T upstream_gene_variant BRCA-EU 1 192995235 192995235 single base substitution A G intron_variant BRCA-EU 1 192995235 192995235 single base substitution A G upstream_gene_variant BRCA-EU 1 192995337 192995337 single base substitution C T intron_variant BRCA-EU 1 192995337 192995337 single base substitution C T upstream_gene_variant BRCA-EU 1 192995905 192995905 single base substitution G A intron_variant BRCA-EU 1 192995905 192995905 single base substitution G A upstream_gene_variant BRCA-EU 1 192996346 192996346 single base substitution T C intron_variant BRCA-EU 1 192996346 192996346 single base substitution T C upstream_gene_variant BRCA-EU 1 192997360 192997360 deletion of <=200bp T - intron_variant BRCA-EU 1 192997360 192997360 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 192998697 192998697 single base substitution C G 5_prime_UTR_variant BRCA-EU 1 192998697 192998697 single base substitution C G missense_variant E104Q 310G>C BRCA-EU 1 192998697 192998697 single base substitution C G missense_variant E113Q 337G>C BRCA-EU 1 192998697 192998697 single base substitution C G missense_variant E125Q 373G>C BRCA-EU 1 192998697 192998697 single base substitution C G missense_variant E3Q 7G>C BRCA-EU 1 192998697 192998697 single base substitution C G upstream_gene_variant BRCA-EU 1 193001098 193001098 single base substitution G C intron_variant BRCA-EU 1 193001098 193001098 single base substitution G C upstream_gene_variant BRCA-EU 1 193001703 193001703 single base substitution C T intron_variant BRCA-EU 1 193001703 193001703 single base substitution C T upstream_gene_variant BRCA-EU 1 193004526 193004526 single base substitution G T intron_variant BRCA-EU 1 193004825 193004825 single base substitution G A intron_variant BRCA-EU 1 193006431 193006431 single base substitution G A intron_variant BRCA-EU 1 193006711 193006711 single base substitution C T intron_variant BRCA-EU 1 193006903 193006903 single base substitution T G intron_variant BRCA-EU 1 193007320 193007320 single base substitution C G intron_variant BRCA-EU 1 193007518 193007518 single base substitution G C intron_variant BRCA-EU 1 193008610 193008610 insertion of <=200bp - A intron_variant BRCA-EU 1 193008624 193008624 single base substitution G A intron_variant BRCA-EU 1 193009121 193009121 single base substitution C T intron_variant BRCA-EU 1 193009195 193009195 single base substitution A T intron_variant BRCA-EU 1 193010539 193010539 single base substitution A C intron_variant BRCA-EU 1 193011245 193011245 single base substitution A G intron_variant BRCA-EU 1 193011625 193011625 single base substitution G A intron_variant BRCA-EU 1 193011821 193011821 single base substitution A G intron_variant BRCA-EU 1 193012785 193012785 single base substitution C G intron_variant BRCA-EU 1 193015934 193015934 single base substitution T C downstream_gene_variant BRCA-EU 1 193015934 193015934 single base substitution T C intron_variant BRCA-EU 1 193016881 193016881 single base substitution C T downstream_gene_variant BRCA-EU 1 193016881 193016881 single base substitution C T intron_variant BRCA-EU 1 193019069 193019069 single base substitution A G downstream_gene_variant BRCA-EU 1 193019069 193019069 single base substitution A G intron_variant BRCA-EU 1 193021657 193021657 single base substitution C A intron_variant BRCA-EU 1 193022982 193022983 deletion of <=200bp AG - intron_variant BRCA-EU 1 193023624 193023624 single base substitution C A intron_variant BRCA-EU 1 193024110 193024110 deletion of <=200bp T - intron_variant BRCA-EU 1 193024343 193024343 single base substitution G C intron_variant BRCA-EU 1 193024384 193024384 single base substitution G A intron_variant BRCA-EU 1 193025165 193025165 single base substitution T A intron_variant BRCA-EU 1 193026061 193026061 single base substitution T C intron_variant BRCA-EU 1 193026398 193026398 single base substitution G C intron_variant BRCA-EU 1 193026400 193026400 deletion of <=200bp T - intron_variant BRCA-EU 1 193027344 193027344 single base substitution G A intron_variant BRCA-EU 1 193028627 193028627 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 1 193028627 193028627 single base substitution G C intron_variant BRCA-EU 1 193028627 193028627 single base substitution G C missense_variant P129A 385C>G BRCA-EU 1 193028627 193028627 single base substitution G C upstream_gene_variant BRCA-EU 1 193028792 193028792 single base substitution G A 5_prime_UTR_variant BRCA-EU 1 193028792 193028792 single base substitution G A stop_gained Q113* 337C>T BRCA-EU 1 193028792 193028792 single base substitution G A upstream_gene_variant BRCA-EU 1 193028801 193028801 single base substitution G A 5_prime_UTR_variant BRCA-EU 1 193028801 193028801 single base substitution G A stop_gained Q110* 328C>T BRCA-EU 1 193028801 193028801 single base substitution G A upstream_gene_variant BRCA-EU 1 193028977 193028977 single base substitution C A 5_prime_UTR_variant BRCA-EU 1 193028977 193028977 single base substitution C A missense_variant G51V 152G>T BRCA-EU 1 193028977 193028977 single base substitution C A upstream_gene_variant BRCA-EU 1 193029353 193029353 single base substitution G A upstream_gene_variant BRCA-EU 1 193029867 193029867 single base substitution A T upstream_gene_variant BRCA-EU 1 193030756 193030756 single base substitution T C upstream_gene_variant BRCA-EU 1 193031101 193031101 single base substitution G C upstream_gene_variant BRCA-EU 1 193031202 193031202 single base substitution C T upstream_gene_variant BRCA-EU 1 193032115 193032115 single base substitution G A upstream_gene_variant BRCA-FR 1 192976787 192976787 single base substitution A C downstream_gene_variant BRCA-FR 1 192981893 192981893 single base substitution C T 3_prime_UTR_variant BRCA-FR 1 192981893 192981893 single base substitution C T downstream_gene_variant BRCA-FR 1 192982085 192982085 single base substitution C A 3_prime_UTR_variant BRCA-FR 1 192982085 192982085 single base substitution C A downstream_gene_variant BRCA-FR 1 192986780 192986780 single base substitution G A downstream_gene_variant BRCA-FR 1 192986780 192986780 single base substitution G A intron_variant BRCA-FR 1 192986814 192986814 single base substitution G A downstream_gene_variant BRCA-FR 1 192986814 192986814 single base substitution G A intron_variant BRCA-FR 1 192992927 192992927 single base substitution G C intron_variant BRCA-FR 1 192993147 192993147 single base substitution C T intron_variant BRCA-FR 1 192993147 192993147 single base substitution C T upstream_gene_variant BRCA-FR 1 193004825 193004825 single base substitution G A intron_variant BRCA-FR 1 193007518 193007518 single base substitution G C intron_variant BRCA-FR 1 193011625 193011625 single base substitution G A intron_variant BRCA-FR 1 193016594 193016594 single base substitution C T downstream_gene_variant BRCA-FR 1 193016594 193016594 single base substitution C T intron_variant BRCA-FR 1 193023624 193023624 single base substitution C A intron_variant BRCA-FR 1 193026398 193026398 single base substitution G C intron_variant BRCA-FR 1 193028627 193028627 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BRCA-FR 1 193028627 193028627 single base substitution G C intron_variant BRCA-FR 1 193028627 193028627 single base substitution G C missense_variant P129A 385C>G BRCA-FR 1 193028627 193028627 single base substitution G C upstream_gene_variant BRCA-UK 1 192977509 192977509 single base substitution G C downstream_gene_variant BRCA-UK 1 192979405 192979405 single base substitution G C downstream_gene_variant BRCA-UK 1 192979966 192979966 single base substitution G A downstream_gene_variant BRCA-UK 1 192987742 192987742 single base substitution G C 3_prime_UTR_variant BRCA-UK 1 192987742 192987742 single base substitution G C downstream_gene_variant BRCA-UK 1 192987742 192987742 single base substitution G C intron_variant BRCA-UK 1 192992148 192992148 single base substitution G C missense_variant Q107E 319C>G BRCA-UK 1 192992148 192992148 single base substitution G C missense_variant Q127E 379C>G BRCA-UK 1 192992148 192992148 single base substitution G C missense_variant Q128E 382C>G BRCA-UK 1 192992148 192992148 single base substitution G C missense_variant Q142E 424C>G BRCA-UK 1 192992148 192992148 single base substitution G C missense_variant Q242E 724C>G BRCA-UK 1 192992148 192992148 single base substitution G C missense_variant Q251E 751C>G BRCA-UK 1 192992148 192992148 single base substitution G C missense_variant Q252E 754C>G BRCA-UK 1 192992148 192992148 single base substitution G C missense_variant Q278E 832C>G BRCA-UK 1 192992148 192992148 single base substitution G C missense_variant Q291E 871C>G BRCA-UK 1 192992148 192992148 single base substitution G C missense_variant Q33E 97C>G BRCA-UK 1 192992148 192992148 single base substitution G C missense_variant Q39E 115C>G BRCA-UK 1 193026806 193026806 single base substitution C G intron_variant BRCA-US 1 192992148 192992148 single base substitution G C missense_variant Q107E 319C>G BRCA-US 1 192992148 192992148 single base substitution G C missense_variant Q127E 379C>G BRCA-US 1 192992148 192992148 single base substitution G C missense_variant Q128E 382C>G BRCA-US 1 192992148 192992148 single base substitution G C missense_variant Q142E 424C>G BRCA-US 1 192992148 192992148 single base substitution G C missense_variant Q242E 724C>G BRCA-US 1 192992148 192992148 single base substitution G C missense_variant Q251E 751C>G BRCA-US 1 192992148 192992148 single base substitution G C missense_variant Q252E 754C>G BRCA-US 1 192992148 192992148 single base substitution G C missense_variant Q278E 832C>G BRCA-US 1 192992148 192992148 single base substitution G C missense_variant Q291E 871C>G BRCA-US 1 192992148 192992148 single base substitution G C missense_variant Q33E 97C>G BRCA-US 1 192992148 192992148 single base substitution G C missense_variant Q39E 115C>G BRCA-US 1 192998533 192998533 single base substitution T C missense_variant H131R 392A>G BRCA-US 1 192998533 192998533 single base substitution T C missense_variant H140R 419A>G BRCA-US 1 192998533 192998533 single base substitution T C missense_variant H152R 455A>G BRCA-US 1 192998533 192998533 single base substitution T C missense_variant H16R 47A>G BRCA-US 1 192998533 192998533 single base substitution T C missense_variant H30R 89A>G BRCA-US 1 192998533 192998533 single base substitution T C upstream_gene_variant BRCA-US 1 193028399 193028399 single base substitution C T 5_prime_UTR_variant BRCA-US 1 193028399 193028399 single base substitution C T intron_variant BRCA-US 1 193028399 193028399 single base substitution C T missense_variant A10T 28G>A BRCA-US 1 193028399 193028399 single base substitution C T upstream_gene_variant BTCA-JP 1 192998523 192998523 single base substitution G A synonymous_variant F134F 402C>T BTCA-JP 1 192998523 192998523 single base substitution G A synonymous_variant F143F 429C>T BTCA-JP 1 192998523 192998523 single base substitution G A synonymous_variant F155F 465C>T BTCA-JP 1 192998523 192998523 single base substitution G A synonymous_variant F19F 57C>T BTCA-JP 1 192998523 192998523 single base substitution G A synonymous_variant F33F 99C>T BTCA-JP 1 192998523 192998523 single base substitution G A upstream_gene_variant BTCA-JP 1 193028826 193028826 single base substitution C T 5_prime_UTR_variant BTCA-JP 1 193028826 193028826 single base substitution C T synonymous_variant R101R 303G>A BTCA-JP 1 193028826 193028826 single base substitution C T upstream_gene_variant CLLE-ES 1 193003874 193003874 single base substitution C T intron_variant COAD-US 1 192985528 192985528 deletion of <=200bp A - downstream_gene_variant COAD-US 1 192985528 192985528 deletion of <=200bp A - intron_variant COAD-US 1 192998523 192998523 single base substitution G A synonymous_variant F134F 402C>T COAD-US 1 192998523 192998523 single base substitution G A synonymous_variant F143F 429C>T COAD-US 1 192998523 192998523 single base substitution G A synonymous_variant F155F 465C>T COAD-US 1 192998523 192998523 single base substitution G A synonymous_variant F19F 57C>T COAD-US 1 192998523 192998523 single base substitution G A synonymous_variant F33F 99C>T COAD-US 1 192998523 192998523 single base substitution G A upstream_gene_variant COAD-US 1 193018904 193018904 single base substitution C T 5_prime_UTR_variant COAD-US 1 193018904 193018904 single base substitution C T downstream_gene_variant COAD-US 1 193018904 193018904 single base substitution C T exon_variant COAD-US 1 193018904 193018904 single base substitution C T intron_variant COAD-US 1 193018904 193018904 single base substitution C T missense_variant R64Q 191G>A COAD-US 1 193018904 193018904 single base substitution C T missense_variant R73Q 218G>A COAD-US 1 193018904 193018904 single base substitution C T missense_variant R85Q 254G>A COAD-US 1 193018905 193018905 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant COAD-US 1 193018905 193018905 single base substitution G A downstream_gene_variant COAD-US 1 193018905 193018905 single base substitution G A exon_variant COAD-US 1 193018905 193018905 single base substitution G A intron_variant COAD-US 1 193018905 193018905 single base substitution G A stop_gained R64* 190C>T COAD-US 1 193018905 193018905 single base substitution G A stop_gained R73* 217C>T COAD-US 1 193018905 193018905 single base substitution G A stop_gained R85* 253C>T COCA-CN 1 192997103 192997103 single base substitution G A intron_variant COCA-CN 1 192997103 192997103 single base substitution G A upstream_gene_variant COCA-CN 1 193021008 193021008 single base substitution A G intron_variant COCA-CN 1 193021062 193021062 single base substitution T G intron_variant COCA-CN 1 193028672 193028672 single base substitution G T intron_variant COCA-CN 1 193028672 193028672 single base substitution G T upstream_gene_variant EOPC-DE 1 193026271 193026271 single base substitution G A intron_variant ESAD-UK 1 192977354 192977354 single base substitution A G downstream_gene_variant ESAD-UK 1 192980038 192980038 single base substitution C T downstream_gene_variant ESAD-UK 1 192981834 192981834 insertion of <=200bp - T 3_prime_UTR_variant ESAD-UK 1 192981834 192981834 insertion of <=200bp - T downstream_gene_variant ESAD-UK 1 192982877 192982877 single base substitution A C 3_prime_UTR_variant ESAD-UK 1 192982877 192982877 single base substitution A C downstream_gene_variant ESAD-UK 1 192984001 192984001 single base substitution T C 3_prime_UTR_variant ESAD-UK 1 192984001 192984001 single base substitution T C downstream_gene_variant ESAD-UK 1 192984205 192984205 single base substitution C T 3_prime_UTR_variant ESAD-UK 1 192984205 192984205 single base substitution C T downstream_gene_variant ESAD-UK 1 192986079 192986079 single base substitution G A downstream_gene_variant ESAD-UK 1 192986079 192986079 single base substitution G A intron_variant ESAD-UK 1 192986174 192986174 deletion of <=200bp A - downstream_gene_variant ESAD-UK 1 192986174 192986174 deletion of <=200bp A - intron_variant ESAD-UK 1 192989542 192989542 single base substitution C T 3_prime_UTR_variant ESAD-UK 1 192989542 192989542 single base substitution C T downstream_gene_variant ESAD-UK 1 192989542 192989542 single base substitution C T intron_variant ESAD-UK 1 192989618 192989618 single base substitution A T downstream_gene_variant ESAD-UK 1 192989618 192989618 single base substitution A T intron_variant ESAD-UK 1 192989663 192989663 single base substitution T A downstream_gene_variant ESAD-UK 1 192989663 192989663 single base substitution T A intron_variant ESAD-UK 1 192990613 192990613 single base substitution C A downstream_gene_variant ESAD-UK 1 192990613 192990613 single base substitution C A intron_variant ESAD-UK 1 192994137 192994137 deletion of <=200bp A - intron_variant ESAD-UK 1 192994137 192994137 deletion of <=200bp A - upstream_gene_variant ESAD-UK 1 192994683 192994683 single base substitution G T intron_variant ESAD-UK 1 192994683 192994683 single base substitution G T upstream_gene_variant ESAD-UK 1 192994721 192994721 single base substitution C G intron_variant ESAD-UK 1 192994721 192994721 single base substitution C G upstream_gene_variant ESAD-UK 1 192995735 192995735 single base substitution A G intron_variant ESAD-UK 1 192995735 192995735 single base substitution A G upstream_gene_variant ESAD-UK 1 192996233 192996233 single base substitution T C intron_variant ESAD-UK 1 192996233 192996233 single base substitution T C upstream_gene_variant ESAD-UK 1 192997454 192997454 single base substitution C T intron_variant ESAD-UK 1 192997454 192997454 single base substitution C T upstream_gene_variant ESAD-UK 1 192999376 192999376 single base substitution A C intron_variant ESAD-UK 1 192999376 192999376 single base substitution A C upstream_gene_variant ESAD-UK 1 193000731 193000731 single base substitution T C intron_variant ESAD-UK 1 193000731 193000731 single base substitution T C upstream_gene_variant ESAD-UK 1 193001213 193001213 single base substitution T G intron_variant ESAD-UK 1 193001213 193001213 single base substitution T G upstream_gene_variant ESAD-UK 1 193001286 193001286 single base substitution C A intron_variant ESAD-UK 1 193001286 193001286 single base substitution C A upstream_gene_variant ESAD-UK 1 193002625 193002625 single base substitution C T intron_variant ESAD-UK 1 193002625 193002625 single base substitution C T upstream_gene_variant ESAD-UK 1 193002781 193002781 single base substitution C T intron_variant ESAD-UK 1 193002781 193002781 single base substitution C T upstream_gene_variant ESAD-UK 1 193003069 193003071 deletion of <=200bp GAC - intron_variant ESAD-UK 1 193003069 193003071 deletion of <=200bp GAC - upstream_gene_variant ESAD-UK 1 193004300 193004300 single base substitution G T intron_variant ESAD-UK 1 193005018 193005018 single base substitution C G intron_variant ESAD-UK 1 193009754 193009754 single base substitution G A intron_variant ESAD-UK 1 193012628 193012628 single base substitution A G intron_variant ESAD-UK 1 193013373 193013373 single base substitution G C intron_variant ESAD-UK 1 193016332 193016332 single base substitution T A downstream_gene_variant ESAD-UK 1 193016332 193016332 single base substitution T A intron_variant ESAD-UK 1 193019042 193019042 single base substitution A G downstream_gene_variant ESAD-UK 1 193019042 193019042 single base substitution A G intron_variant ESAD-UK 1 193019123 193019123 single base substitution C G downstream_gene_variant ESAD-UK 1 193019123 193019123 single base substitution C G intron_variant ESAD-UK 1 193019830 193019830 single base substitution C T downstream_gene_variant ESAD-UK 1 193019830 193019830 single base substitution C T intron_variant ESAD-UK 1 193020339 193020339 single base substitution G T downstream_gene_variant ESAD-UK 1 193020339 193020339 single base substitution G T intron_variant ESAD-UK 1 193021315 193021315 single base substitution A T intron_variant ESAD-UK 1 193024042 193024042 single base substitution G C intron_variant ESAD-UK 1 193024367 193024367 deletion of <=200bp T - intron_variant ESAD-UK 1 193024755 193024755 deletion of <=200bp C - intron_variant ESAD-UK 1 193025187 193025187 single base substitution C A intron_variant ESAD-UK 1 193025326 193025326 single base substitution C T intron_variant ESAD-UK 1 193029137 193029138 deletion of <=200bp GT - 5_prime_UTR_variant ESAD-UK 1 193029137 193029138 deletion of <=200bp GT - upstream_gene_variant ESAD-UK 1 193030646 193030646 single base substitution G A upstream_gene_variant ESAD-UK 1 193033919 193033919 single base substitution A T upstream_gene_variant LICA-FR 1 193027219 193027219 single base substitution T C intron_variant LIHC-US 1 192993077 192993077 single base substitution C A splice_acceptor_variant LIHC-US 1 192993077 192993077 single base substitution C A upstream_gene_variant LINC-JP 1 192987814 192987814 single base substitution T C 3_prime_UTR_variant LINC-JP 1 192987814 192987814 single base substitution T C downstream_gene_variant LINC-JP 1 192987814 192987814 single base substitution T C intron_variant LINC-JP 1 192992943 192992943 single base substitution G C intron_variant LINC-JP 1 193007786 193007786 single base substitution A G intron_variant LINC-JP 1 193013547 193013547 single base substitution T A intron_variant LIRI-JP 1 192977643 192977643 single base substitution T A downstream_gene_variant LIRI-JP 1 192978635 192978635 single base substitution T C downstream_gene_variant LIRI-JP 1 192981838 192981838 single base substitution T G 3_prime_UTR_variant LIRI-JP 1 192981838 192981838 single base substitution T G downstream_gene_variant LIRI-JP 1 192981931 192981931 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 192981931 192981931 single base substitution T C downstream_gene_variant LIRI-JP 1 192982578 192982578 single base substitution A C 3_prime_UTR_variant LIRI-JP 1 192982578 192982578 single base substitution A C downstream_gene_variant LIRI-JP 1 192986161 192986161 single base substitution A G downstream_gene_variant LIRI-JP 1 192986161 192986161 single base substitution A G intron_variant LIRI-JP 1 192986185 192986185 single base substitution A C downstream_gene_variant LIRI-JP 1 192986185 192986185 single base substitution A C intron_variant LIRI-JP 1 192987017 192987017 single base substitution T C downstream_gene_variant LIRI-JP 1 192987017 192987017 single base substitution T C intron_variant LIRI-JP 1 192988259 192988259 single base substitution T C downstream_gene_variant LIRI-JP 1 192988259 192988259 single base substitution T C intron_variant LIRI-JP 1 192990755 192990755 single base substitution T C downstream_gene_variant LIRI-JP 1 192990755 192990755 single base substitution T C intron_variant LIRI-JP 1 192994516 192994516 single base substitution G A intron_variant LIRI-JP 1 192994516 192994516 single base substitution G A upstream_gene_variant LIRI-JP 1 192994558 192994558 single base substitution G C intron_variant LIRI-JP 1 192994558 192994558 single base substitution G C upstream_gene_variant LIRI-JP 1 192999586 192999586 single base substitution T G intron_variant LIRI-JP 1 192999586 192999586 single base substitution T G upstream_gene_variant LIRI-JP 1 192999785 192999785 single base substitution T C intron_variant LIRI-JP 1 192999785 192999785 single base substitution T C upstream_gene_variant LIRI-JP 1 192999974 192999974 single base substitution C A intron_variant LIRI-JP 1 192999974 192999974 single base substitution C A upstream_gene_variant LIRI-JP 1 193002655 193002655 single base substitution T C intron_variant LIRI-JP 1 193002655 193002655 single base substitution T C upstream_gene_variant LIRI-JP 1 193003551 193003551 single base substitution T C intron_variant LIRI-JP 1 193003551 193003551 single base substitution T C upstream_gene_variant LIRI-JP 1 193004049 193004049 single base substitution T C intron_variant LIRI-JP 1 193004461 193004461 single base substitution C A intron_variant LIRI-JP 1 193004462 193004462 single base substitution T C intron_variant LIRI-JP 1 193005649 193005649 single base substitution T C intron_variant LIRI-JP 1 193005859 193005859 single base substitution G C intron_variant LIRI-JP 1 193006067 193006067 single base substitution T A intron_variant LIRI-JP 1 193006712 193006712 single base substitution T A intron_variant LIRI-JP 1 193007381 193007381 single base substitution T C intron_variant LIRI-JP 1 193007462 193007462 single base substitution T C intron_variant LIRI-JP 1 193007928 193007928 single base substitution C G intron_variant LIRI-JP 1 193008351 193008351 single base substitution C T intron_variant LIRI-JP 1 193008513 193008513 single base substitution T C intron_variant LIRI-JP 1 193009447 193009447 single base substitution C A intron_variant LIRI-JP 1 193010840 193010840 single base substitution A G intron_variant LIRI-JP 1 193013750 193013750 single base substitution T C downstream_gene_variant LIRI-JP 1 193013750 193013750 single base substitution T C intron_variant LIRI-JP 1 193015467 193015467 single base substitution T C downstream_gene_variant LIRI-JP 1 193015467 193015467 single base substitution T C intron_variant LIRI-JP 1 193015556 193015556 single base substitution A C downstream_gene_variant LIRI-JP 1 193015556 193015556 single base substitution A C intron_variant LIRI-JP 1 193017288 193017288 single base substitution C G downstream_gene_variant LIRI-JP 1 193017288 193017288 single base substitution C G intron_variant LIRI-JP 1 193017403 193017403 single base substitution T A downstream_gene_variant LIRI-JP 1 193017403 193017403 single base substitution T A intron_variant LIRI-JP 1 193019751 193019751 single base substitution C T downstream_gene_variant LIRI-JP 1 193019751 193019751 single base substitution C T intron_variant LIRI-JP 1 193021523 193021523 single base substitution T C intron_variant LIRI-JP 1 193022204 193022219 deletion of <=200bp AAAGATACATGTACAA - intron_variant LIRI-JP 1 193022801 193022801 single base substitution C A intron_variant LIRI-JP 1 193024643 193024643 single base substitution C A intron_variant LIRI-JP 1 193025311 193025311 single base substitution T C intron_variant LIRI-JP 1 193026900 193026900 single base substitution A G intron_variant LIRI-JP 1 193029248 193029248 single base substitution T G upstream_gene_variant LIRI-JP 1 193030612 193030612 single base substitution G A upstream_gene_variant LIRI-JP 1 193031282 193031282 single base substitution T C upstream_gene_variant LIRI-JP 1 193032933 193032933 single base substitution A T upstream_gene_variant LIRI-JP 1 193033357 193033357 single base substitution G A upstream_gene_variant LIRI-JP 1 193034149 193034149 single base substitution A G upstream_gene_variant LIRI-JP 1 193034168 193034168 single base substitution A G upstream_gene_variant LUSC-KR 1 192980843 192980843 single base substitution T A downstream_gene_variant LUSC-KR 1 192981671 192981671 single base substitution G T 3_prime_UTR_variant LUSC-KR 1 192981671 192981671 single base substitution G T downstream_gene_variant LUSC-KR 1 192982508 192982508 single base substitution C G 3_prime_UTR_variant LUSC-KR 1 192982508 192982508 single base substitution C G downstream_gene_variant LUSC-KR 1 192983593 192983593 single base substitution A T 3_prime_UTR_variant LUSC-KR 1 192983593 192983593 single base substitution A T downstream_gene_variant LUSC-KR 1 192985035 192985035 single base substitution A G 3_prime_UTR_variant LUSC-KR 1 192985035 192985035 single base substitution A G downstream_gene_variant LUSC-KR 1 192992651 192992651 single base substitution C T intron_variant LUSC-KR 1 192993264 192993264 single base substitution G C intron_variant LUSC-KR 1 192993264 192993264 single base substitution G C upstream_gene_variant LUSC-KR 1 192999666 192999666 single base substitution C T intron_variant LUSC-KR 1 192999666 192999666 single base substitution C T upstream_gene_variant LUSC-KR 1 193001679 193001679 single base substitution C G intron_variant LUSC-KR 1 193001679 193001679 single base substitution C G upstream_gene_variant LUSC-KR 1 193002533 193002533 single base substitution G A intron_variant LUSC-KR 1 193002533 193002533 single base substitution G A upstream_gene_variant LUSC-KR 1 193003100 193003100 single base substitution G A intron_variant LUSC-KR 1 193003100 193003100 single base substitution G A upstream_gene_variant LUSC-KR 1 193005447 193005447 single base substitution C A intron_variant LUSC-KR 1 193005509 193005509 single base substitution C A intron_variant LUSC-KR 1 193007739 193007739 single base substitution A C intron_variant LUSC-KR 1 193011204 193011204 single base substitution C A intron_variant LUSC-KR 1 193011205 193011205 single base substitution C A intron_variant LUSC-KR 1 193011206 193011206 single base substitution A G intron_variant LUSC-KR 1 193013491 193013491 single base substitution C T intron_variant LUSC-KR 1 193015673 193015673 single base substitution T C downstream_gene_variant LUSC-KR 1 193015673 193015673 single base substitution T C intron_variant LUSC-KR 1 193016137 193016137 single base substitution C G downstream_gene_variant LUSC-KR 1 193016137 193016137 single base substitution C G intron_variant LUSC-KR 1 193024812 193024812 single base substitution C A intron_variant LUSC-US 1 192993077 192993077 single base substitution C A splice_acceptor_variant LUSC-US 1 192993077 192993077 single base substitution C A upstream_gene_variant LUSC-US 1 192998516 192998516 single base substitution A T splice_donor_variant LUSC-US 1 192998516 192998516 single base substitution A T upstream_gene_variant LUSC-US 1 193018982 193018982 single base substitution C A downstream_gene_variant LUSC-US 1 193018982 193018982 single base substitution C A intron_variant LUSC-US 1 193018982 193018982 single base substitution C A splice_acceptor_variant LUSC-US 1 193028383 193028383 single base substitution C A 5_prime_UTR_variant LUSC-US 1 193028383 193028383 single base substitution C A intron_variant LUSC-US 1 193028383 193028383 single base substitution C A missense_variant G15V 44G>T LUSC-US 1 193028383 193028383 single base substitution C A missense_variant G3V 8G>T LUSC-US 1 193028383 193028383 single base substitution C A upstream_gene_variant MALY-DE 1 192977460 192977460 insertion of <=200bp - T downstream_gene_variant MALY-DE 1 192978794 192978794 single base substitution A G downstream_gene_variant MALY-DE 1 192984756 192984756 single base substitution A G 3_prime_UTR_variant MALY-DE 1 192984756 192984756 single base substitution A G downstream_gene_variant MALY-DE 1 192986668 192986668 single base substitution T G downstream_gene_variant MALY-DE 1 192986668 192986668 single base substitution T G intron_variant MALY-DE 1 192996826 192996826 single base substitution A C intron_variant MALY-DE 1 192996826 192996826 single base substitution A C upstream_gene_variant MALY-DE 1 192998392 192998394 deletion of <=200bp TCT - disruptive_inframe_deletion ED151D MALY-DE 1 192998392 192998394 deletion of <=200bp TCT - disruptive_inframe_deletion ED15D MALY-DE 1 192998392 192998394 deletion of <=200bp TCT - disruptive_inframe_deletion ED160D MALY-DE 1 192998392 192998394 deletion of <=200bp TCT - disruptive_inframe_deletion ED172D MALY-DE 1 192998392 192998394 deletion of <=200bp TCT - disruptive_inframe_deletion ED36D MALY-DE 1 192998392 192998394 deletion of <=200bp TCT - disruptive_inframe_deletion ED50D MALY-DE 1 193002352 193002352 single base substitution T C intron_variant MALY-DE 1 193002352 193002352 single base substitution T C upstream_gene_variant MALY-DE 1 193003719 193003719 single base substitution T A intron_variant MALY-DE 1 193007697 193007697 single base substitution G A intron_variant MALY-DE 1 193008284 193008284 single base substitution A T intron_variant MALY-DE 1 193008341 193008341 single base substitution A G intron_variant MALY-DE 1 193008670 193008670 single base substitution A G intron_variant MALY-DE 1 193010261 193010262 deletion of <=200bp AA - intron_variant MALY-DE 1 193015969 193015969 insertion of <=200bp - A downstream_gene_variant MALY-DE 1 193015969 193015969 insertion of <=200bp - A intron_variant MALY-DE 1 193017582 193017582 single base substitution C T downstream_gene_variant MALY-DE 1 193017582 193017582 single base substitution C T intron_variant MALY-DE 1 193019465 193019465 single base substitution A T downstream_gene_variant MALY-DE 1 193019465 193019465 single base substitution A T intron_variant MALY-DE 1 193019495 193019495 single base substitution A G downstream_gene_variant MALY-DE 1 193019495 193019495 single base substitution A G intron_variant MALY-DE 1 193023665 193023665 single base substitution C A intron_variant MALY-DE 1 193026208 193026208 single base substitution T G intron_variant MALY-DE 1 193028458 193028458 single base substitution G C 5_prime_UTR_variant MALY-DE 1 193028458 193028458 single base substitution G C intron_variant MALY-DE 1 193028458 193028458 single base substitution G C upstream_gene_variant MALY-DE 1 193030822 193030822 single base substitution C T upstream_gene_variant MELA-AU 1 192976638 192976638 single base substitution G A downstream_gene_variant MELA-AU 1 192976825 192976825 single base substitution G A downstream_gene_variant MELA-AU 1 192977014 192977014 single base substitution G C downstream_gene_variant MELA-AU 1 192977054 192977054 single base substitution G A downstream_gene_variant MELA-AU 1 192977302 192977302 single base substitution G A downstream_gene_variant MELA-AU 1 192977826 192977826 single base substitution A C downstream_gene_variant MELA-AU 1 192979249 192979249 single base substitution G A downstream_gene_variant MELA-AU 1 192979965 192979965 single base substitution G A downstream_gene_variant MELA-AU 1 192980325 192980325 single base substitution T A downstream_gene_variant MELA-AU 1 192980568 192980568 single base substitution G A downstream_gene_variant MELA-AU 1 192981149 192981149 single base substitution G A downstream_gene_variant MELA-AU 1 192981620 192981620 single base substitution G C 3_prime_UTR_variant MELA-AU 1 192981620 192981620 single base substitution G C downstream_gene_variant MELA-AU 1 192983156 192983156 single base substitution G A 3_prime_UTR_variant MELA-AU 1 192983156 192983156 single base substitution G A downstream_gene_variant MELA-AU 1 192983256 192983256 single base substitution A G 3_prime_UTR_variant MELA-AU 1 192983256 192983256 single base substitution A G downstream_gene_variant MELA-AU 1 192983726 192983726 single base substitution C G 3_prime_UTR_variant MELA-AU 1 192983726 192983726 single base substitution C G downstream_gene_variant MELA-AU 1 192984179 192984179 single base substitution G A 3_prime_UTR_variant MELA-AU 1 192984179 192984179 single base substitution G A downstream_gene_variant MELA-AU 1 192984349 192984349 single base substitution G A 3_prime_UTR_variant MELA-AU 1 192984349 192984349 single base substitution G A downstream_gene_variant MELA-AU 1 192984625 192984625 single base substitution G A 3_prime_UTR_variant MELA-AU 1 192984625 192984625 single base substitution G A downstream_gene_variant MELA-AU 1 192986825 192986825 single base substitution T C downstream_gene_variant MELA-AU 1 192986825 192986825 single base substitution T C intron_variant MELA-AU 1 192986893 192986893 single base substitution A T downstream_gene_variant MELA-AU 1 192986893 192986893 single base substitution A T intron_variant MELA-AU 1 192987378 192987378 single base substitution G A downstream_gene_variant MELA-AU 1 192987378 192987378 single base substitution G A intron_variant MELA-AU 1 192987404 192987404 single base substitution G A downstream_gene_variant MELA-AU 1 192987404 192987404 single base substitution G A intron_variant MELA-AU 1 192987549 192987549 single base substitution A T 3_prime_UTR_variant MELA-AU 1 192987549 192987549 single base substitution A T downstream_gene_variant MELA-AU 1 192987549 192987549 single base substitution A T intron_variant MELA-AU 1 192987663 192987663 single base substitution G A 3_prime_UTR_variant MELA-AU 1 192987663 192987663 single base substitution G A downstream_gene_variant MELA-AU 1 192987663 192987663 single base substitution G A intron_variant MELA-AU 1 192987896 192987896 single base substitution T A 3_prime_UTR_variant MELA-AU 1 192987896 192987896 single base substitution T A downstream_gene_variant MELA-AU 1 192987896 192987896 single base substitution T A intron_variant MELA-AU 1 192987999 192987999 single base substitution G A downstream_gene_variant MELA-AU 1 192987999 192987999 single base substitution G A intron_variant MELA-AU 1 192988149 192988149 single base substitution G A downstream_gene_variant MELA-AU 1 192988149 192988149 single base substitution G A intron_variant MELA-AU 1 192988816 192988816 single base substitution A T downstream_gene_variant MELA-AU 1 192988816 192988816 single base substitution A T intron_variant MELA-AU 1 192989682 192989682 single base substitution A C downstream_gene_variant MELA-AU 1 192989682 192989682 single base substitution A C intron_variant MELA-AU 1 192989700 192989700 single base substitution A G downstream_gene_variant MELA-AU 1 192989700 192989700 single base substitution A G intron_variant MELA-AU 1 192990966 192990966 single base substitution C T downstream_gene_variant MELA-AU 1 192990966 192990966 single base substitution C T intron_variant MELA-AU 1 192991191 192991191 single base substitution G A downstream_gene_variant MELA-AU 1 192991191 192991191 single base substitution G A intron_variant MELA-AU 1 192991593 192991593 single base substitution C A downstream_gene_variant MELA-AU 1 192991593 192991593 single base substitution C A intron_variant MELA-AU 1 192991832 192991832 single base substitution A G downstream_gene_variant MELA-AU 1 192991832 192991832 single base substitution A G intron_variant MELA-AU 1 192993057 192993057 single base substitution G A stop_gained R107* 319C>T MELA-AU 1 192993057 192993057 single base substitution G A stop_gained R208* 622C>T MELA-AU 1 192993057 192993057 single base substitution G A stop_gained R217* 649C>T MELA-AU 1 192993057 192993057 single base substitution G A stop_gained R244* 730C>T MELA-AU 1 192993057 192993057 single base substitution G A stop_gained R256* 766C>T MELA-AU 1 192993057 192993057 single base substitution G A stop_gained R5* 13C>T MELA-AU 1 192993057 192993057 single base substitution G A stop_gained R72* 214C>T MELA-AU 1 192993057 192993057 single base substitution G A stop_gained R93* 277C>T MELA-AU 1 192993057 192993057 single base substitution G A upstream_gene_variant MELA-AU 1 192993785 192993785 single base substitution G A intron_variant MELA-AU 1 192993785 192993785 single base substitution G A upstream_gene_variant MELA-AU 1 192994240 192994240 single base substitution A T intron_variant MELA-AU 1 192994240 192994240 single base substitution A T upstream_gene_variant MELA-AU 1 192994352 192994352 single base substitution G A intron_variant MELA-AU 1 192994352 192994352 single base substitution G A upstream_gene_variant MELA-AU 1 192995326 192995326 single base substitution T A intron_variant MELA-AU 1 192995326 192995326 single base substitution T A upstream_gene_variant MELA-AU 1 192995329 192995329 single base substitution G A intron_variant MELA-AU 1 192995329 192995329 single base substitution G A upstream_gene_variant MELA-AU 1 192995618 192995618 single base substitution G A intron_variant MELA-AU 1 192995618 192995618 single base substitution G A upstream_gene_variant MELA-AU 1 192995731 192995731 single base substitution C T intron_variant MELA-AU 1 192995731 192995731 single base substitution C T upstream_gene_variant MELA-AU 1 192995994 192995994 single base substitution G A intron_variant MELA-AU 1 192995994 192995994 single base substitution G A upstream_gene_variant MELA-AU 1 192996627 192996627 single base substitution G A intron_variant MELA-AU 1 192996627 192996627 single base substitution G A upstream_gene_variant MELA-AU 1 192996636 192996636 single base substitution G A intron_variant MELA-AU 1 192996636 192996636 single base substitution G A upstream_gene_variant MELA-AU 1 192996653 192996653 single base substitution G A intron_variant MELA-AU 1 192996653 192996653 single base substitution G A upstream_gene_variant MELA-AU 1 192996869 192996869 single base substitution T C intron_variant MELA-AU 1 192996869 192996869 single base substitution T C upstream_gene_variant MELA-AU 1 192997349 192997349 single base substitution G A intron_variant MELA-AU 1 192997349 192997349 single base substitution G A upstream_gene_variant MELA-AU 1 192998297 192998297 single base substitution G A intron_variant MELA-AU 1 192998484 192998484 single base substitution G A intron_variant MELA-AU 1 192998484 192998484 single base substitution G A upstream_gene_variant MELA-AU 1 192998914 192998914 single base substitution G A intron_variant MELA-AU 1 192998914 192998914 single base substitution G A upstream_gene_variant MELA-AU 1 192999005 192999005 single base substitution T C intron_variant MELA-AU 1 192999005 192999005 single base substitution T C upstream_gene_variant MELA-AU 1 193000525 193000525 single base substitution C T intron_variant MELA-AU 1 193000525 193000525 single base substitution C T upstream_gene_variant MELA-AU 1 193001025 193001025 single base substitution C T intron_variant MELA-AU 1 193001025 193001025 single base substitution C T upstream_gene_variant MELA-AU 1 193001142 193001142 single base substitution G A intron_variant MELA-AU 1 193001142 193001142 single base substitution G A upstream_gene_variant MELA-AU 1 193002445 193002445 single base substitution G A intron_variant MELA-AU 1 193002445 193002445 single base substitution G A upstream_gene_variant MELA-AU 1 193002528 193002528 single base substitution G A intron_variant MELA-AU 1 193002528 193002528 single base substitution G A upstream_gene_variant MELA-AU 1 193002555 193002555 single base substitution G A intron_variant MELA-AU 1 193002555 193002555 single base substitution G A upstream_gene_variant MELA-AU 1 193002851 193002851 single base substitution C G intron_variant MELA-AU 1 193002851 193002851 single base substitution C G upstream_gene_variant MELA-AU 1 193003187 193003187 single base substitution T C intron_variant MELA-AU 1 193003187 193003187 single base substitution T C upstream_gene_variant MELA-AU 1 193003490 193003490 single base substitution G A intron_variant MELA-AU 1 193003490 193003490 single base substitution G A upstream_gene_variant MELA-AU 1 193003710 193003710 single base substitution T C intron_variant MELA-AU 1 193005415 193005416 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 193007481 193007481 single base substitution G A intron_variant MELA-AU 1 193008107 193008107 single base substitution G A intron_variant MELA-AU 1 193008467 193008467 single base substitution G A intron_variant MELA-AU 1 193008573 193008573 single base substitution C T intron_variant MELA-AU 1 193008808 193008808 single base substitution G A intron_variant MELA-AU 1 193009029 193009029 single base substitution G A intron_variant MELA-AU 1 193009700 193009700 single base substitution G A intron_variant MELA-AU 1 193009837 193009837 single base substitution G A intron_variant MELA-AU 1 193010215 193010215 single base substitution G A intron_variant MELA-AU 1 193010236 193010236 single base substitution C T intron_variant MELA-AU 1 193010299 193010299 single base substitution A T intron_variant MELA-AU 1 193011878 193011878 single base substitution G A intron_variant MELA-AU 1 193011957 193011957 single base substitution G A intron_variant MELA-AU 1 193012327 193012327 single base substitution A C intron_variant MELA-AU 1 193012399 193012399 single base substitution C T intron_variant MELA-AU 1 193012654 193012654 single base substitution G A intron_variant MELA-AU 1 193012727 193012727 single base substitution G A intron_variant MELA-AU 1 193013502 193013502 single base substitution G A intron_variant MELA-AU 1 193014068 193014068 single base substitution G A downstream_gene_variant MELA-AU 1 193014068 193014068 single base substitution G A intron_variant MELA-AU 1 193014646 193014646 single base substitution C T downstream_gene_variant MELA-AU 1 193014646 193014646 single base substitution C T intron_variant MELA-AU 1 193015478 193015478 single base substitution G A downstream_gene_variant MELA-AU 1 193015478 193015478 single base substitution G A intron_variant MELA-AU 1 193015612 193015612 single base substitution G A downstream_gene_variant MELA-AU 1 193015612 193015612 single base substitution G A intron_variant MELA-AU 1 193016187 193016187 single base substitution G A downstream_gene_variant MELA-AU 1 193016187 193016187 single base substitution G A intron_variant MELA-AU 1 193016376 193016376 single base substitution G A downstream_gene_variant MELA-AU 1 193016376 193016376 single base substitution G A intron_variant MELA-AU 1 193019202 193019202 single base substitution G A downstream_gene_variant MELA-AU 1 193019202 193019202 single base substitution G A intron_variant MELA-AU 1 193021076 193021076 single base substitution G A intron_variant MELA-AU 1 193021149 193021149 single base substitution C T intron_variant MELA-AU 1 193021211 193021211 single base substitution G A intron_variant MELA-AU 1 193022038 193022038 single base substitution G A intron_variant MELA-AU 1 193022367 193022367 single base substitution G A intron_variant MELA-AU 1 193022911 193022911 single base substitution G A intron_variant MELA-AU 1 193023590 193023590 single base substitution G A intron_variant MELA-AU 1 193023960 193023960 single base substitution G A intron_variant MELA-AU 1 193024324 193024324 single base substitution G A intron_variant MELA-AU 1 193024725 193024725 single base substitution T A intron_variant MELA-AU 1 193025160 193025160 single base substitution G A intron_variant MELA-AU 1 193025984 193025984 single base substitution G A intron_variant MELA-AU 1 193027030 193027030 single base substitution A G intron_variant MELA-AU 1 193028636 193028636 single base substitution G A 5_prime_UTR_variant MELA-AU 1 193028636 193028636 single base substitution G A intron_variant MELA-AU 1 193028636 193028636 single base substitution G A missense_variant L126F 376C>T MELA-AU 1 193028636 193028636 single base substitution G A upstream_gene_variant MELA-AU 1 193029556 193029556 single base substitution T G upstream_gene_variant MELA-AU 1 193029674 193029674 single base substitution G C upstream_gene_variant MELA-AU 1 193030485 193030485 single base substitution A T upstream_gene_variant MELA-AU 1 193030720 193030720 single base substitution A T upstream_gene_variant MELA-AU 1 193031034 193031034 single base substitution A C upstream_gene_variant MELA-AU 1 193031781 193031781 single base substitution C T upstream_gene_variant MELA-AU 1 193031986 193031986 single base substitution A G upstream_gene_variant MELA-AU 1 193032165 193032165 single base substitution T A upstream_gene_variant MELA-AU 1 193032254 193032254 single base substitution T G upstream_gene_variant MELA-AU 1 193032266 193032266 single base substitution C T upstream_gene_variant MELA-AU 1 193032786 193032786 single base substitution C T upstream_gene_variant MELA-AU 1 193033297 193033297 single base substitution G A upstream_gene_variant MELA-AU 1 193033416 193033416 single base substitution C T upstream_gene_variant MELA-AU 1 193033491 193033491 single base substitution T A upstream_gene_variant ORCA-IN 1 192976990 192976990 single base substitution G C downstream_gene_variant ORCA-IN 1 192977018 192977018 single base substitution G A downstream_gene_variant ORCA-IN 1 192977095 192977095 single base substitution G A downstream_gene_variant ORCA-IN 1 192977713 192977713 single base substitution C A downstream_gene_variant ORCA-IN 1 192981234 192981234 single base substitution G C downstream_gene_variant ORCA-IN 1 192991768 192991768 single base substitution C T downstream_gene_variant ORCA-IN 1 192991768 192991768 single base substitution C T intron_variant ORCA-IN 1 192993032 192993032 single base substitution G C missense_variant S101C 302C>G ORCA-IN 1 192993032 192993032 single base substitution G C missense_variant S115C 344C>G ORCA-IN 1 192993032 192993032 single base substitution G C missense_variant S13C 38C>G ORCA-IN 1 192993032 192993032 single base substitution G C missense_variant S216C 647C>G ORCA-IN 1 192993032 192993032 single base substitution G C missense_variant S225C 674C>G ORCA-IN 1 192993032 192993032 single base substitution G C missense_variant S252C 755C>G ORCA-IN 1 192993032 192993032 single base substitution G C missense_variant S264C 791C>G ORCA-IN 1 192993032 192993032 single base substitution G C missense_variant S7C 20C>G ORCA-IN 1 192993032 192993032 single base substitution G C missense_variant S80C 239C>G ORCA-IN 1 193005521 193005521 single base substitution G A intron_variant ORCA-IN 1 193019885 193019885 deletion of <=200bp G - downstream_gene_variant ORCA-IN 1 193019885 193019885 deletion of <=200bp G - intron_variant ORCA-IN 1 193020348 193020348 single base substitution T C downstream_gene_variant ORCA-IN 1 193020348 193020348 single base substitution T C intron_variant OV-AU 1 192981380 192981380 single base substitution T A 3_prime_UTR_variant OV-AU 1 192981380 192981380 single base substitution T A downstream_gene_variant OV-AU 1 192988735 192988735 single base substitution G C downstream_gene_variant OV-AU 1 192988735 192988735 single base substitution G C intron_variant OV-AU 1 192996302 192996302 single base substitution A C intron_variant OV-AU 1 192996302 192996302 single base substitution A C upstream_gene_variant OV-AU 1 192998131 192998131 single base substitution G C intron_variant OV-AU 1 192998178 192998178 single base substitution A G intron_variant OV-AU 1 193005854 193005854 single base substitution G A intron_variant OV-AU 1 193005855 193005855 single base substitution G A intron_variant OV-AU 1 193015478 193015478 single base substitution G A downstream_gene_variant OV-AU 1 193015478 193015478 single base substitution G A intron_variant OV-AU 1 193024448 193024448 single base substitution G A intron_variant OV-AU 1 193025073 193025073 single base substitution A G intron_variant OV-AU 1 193027897 193027897 single base substitution A G intron_variant OV-AU 1 193032659 193032659 single base substitution G T upstream_gene_variant OV-AU 1 193033370 193033370 single base substitution C G upstream_gene_variant PACA-AU 1 192976428 192976428 single base substitution T C downstream_gene_variant PACA-AU 1 192977748 192977748 single base substitution C G downstream_gene_variant PACA-AU 1 192978301 192978301 single base substitution G A downstream_gene_variant PACA-AU 1 192990283 192990312 deletion of <=200bp TAATGAAAGGCAGATAATTATGCTTCCTTC - disruptive_inframe_deletion RRKHNYLPFIM142M PACA-AU 1 192990283 192990312 deletion of <=200bp TAATGAAAGGCAGATAATTATGCTTCCTTC - disruptive_inframe_deletion RRKHNYLPFIM162M PACA-AU 1 192990283 192990312 deletion of <=200bp TAATGAAAGGCAGATAATTATGCTTCCTTC - disruptive_inframe_deletion RRKHNYLPFIM163M PACA-AU 1 192990283 192990312 deletion of <=200bp TAATGAAAGGCAGATAATTATGCTTCCTTC - disruptive_inframe_deletion RRKHNYLPFIM177M PACA-AU 1 192990283 192990312 deletion of <=200bp TAATGAAAGGCAGATAATTATGCTTCCTTC - disruptive_inframe_deletion RRKHNYLPFIM286M PACA-AU 1 192990283 192990312 deletion of <=200bp TAATGAAAGGCAGATAATTATGCTTCCTTC - disruptive_inframe_deletion RRKHNYLPFIM287M PACA-AU 1 192990283 192990312 deletion of <=200bp TAATGAAAGGCAGATAATTATGCTTCCTTC - disruptive_inframe_deletion RRKHNYLPFIM313M PACA-AU 1 192990283 192990312 deletion of <=200bp TAATGAAAGGCAGATAATTATGCTTCCTTC - disruptive_inframe_deletion RRKHNYLPFIM326M PACA-AU 1 192990283 192990312 deletion of <=200bp TAATGAAAGGCAGATAATTATGCTTCCTTC - disruptive_inframe_deletion RRKHNYLPFIM68M PACA-AU 1 192990283 192990312 deletion of <=200bp TAATGAAAGGCAGATAATTATGCTTCCTTC - disruptive_inframe_deletion RRKHNYLPFIM74M PACA-AU 1 192990283 192990312 deletion of <=200bp TAATGAAAGGCAGATAATTATGCTTCCTTC - downstream_gene_variant PACA-AU 1 192992429 192992429 single base substitution A T intron_variant PACA-AU 1 192994457 192994457 single base substitution C T intron_variant PACA-AU 1 192994457 192994457 single base substitution C T upstream_gene_variant PACA-AU 1 192996159 192996159 single base substitution C T intron_variant PACA-AU 1 192996159 192996159 single base substitution C T upstream_gene_variant PACA-AU 1 193003499 193003499 single base substitution T A intron_variant PACA-AU 1 193003499 193003499 single base substitution T A upstream_gene_variant PACA-AU 1 193007309 193007309 single base substitution G A intron_variant PACA-AU 1 193008747 193008747 single base substitution C T intron_variant PACA-AU 1 193008941 193008941 single base substitution G T intron_variant PACA-AU 1 193028819 193028819 single base substitution C T 5_prime_UTR_variant PACA-AU 1 193028819 193028819 single base substitution C T missense_variant D104N 310G>A PACA-AU 1 193028819 193028819 single base substitution C T upstream_gene_variant PACA-AU 1 193028956 193028956 single base substitution G A 5_prime_UTR_variant PACA-AU 1 193028956 193028956 single base substitution G A missense_variant S58F 173C>T PACA-AU 1 193028956 193028956 single base substitution G A upstream_gene_variant PACA-CA 1 192978297 192978297 single base substitution A G downstream_gene_variant PACA-CA 1 192991030 192991030 deletion of <=200bp T - downstream_gene_variant PACA-CA 1 192991030 192991030 deletion of <=200bp T - intron_variant PACA-CA 1 192991379 192991379 single base substitution G C downstream_gene_variant PACA-CA 1 192991379 192991379 single base substitution G C intron_variant PACA-CA 1 192992867 192992867 single base substitution G A intron_variant PACA-CA 1 192993580 192993580 single base substitution G A intron_variant PACA-CA 1 192993580 192993580 single base substitution G A upstream_gene_variant PACA-CA 1 192996404 192996404 insertion of <=200bp - AT intron_variant PACA-CA 1 192996404 192996404 insertion of <=200bp - AT upstream_gene_variant PACA-CA 1 192998392 192998394 deletion of <=200bp TCT - disruptive_inframe_deletion ED151D PACA-CA 1 192998392 192998394 deletion of <=200bp TCT - disruptive_inframe_deletion ED15D PACA-CA 1 192998392 192998394 deletion of <=200bp TCT - disruptive_inframe_deletion ED160D PACA-CA 1 192998392 192998394 deletion of <=200bp TCT - disruptive_inframe_deletion ED172D PACA-CA 1 192998392 192998394 deletion of <=200bp TCT - disruptive_inframe_deletion ED36D PACA-CA 1 192998392 192998394 deletion of <=200bp TCT - disruptive_inframe_deletion ED50D PACA-CA 1 192999277 192999277 deletion of <=200bp T - intron_variant PACA-CA 1 192999277 192999277 deletion of <=200bp T - upstream_gene_variant PACA-CA 1 193001672 193001672 single base substitution T C intron_variant PACA-CA 1 193001672 193001672 single base substitution T C upstream_gene_variant PACA-CA 1 193002266 193002266 single base substitution G A intron_variant PACA-CA 1 193002266 193002266 single base substitution G A upstream_gene_variant PACA-CA 1 193007985 193007985 single base substitution C A intron_variant PACA-CA 1 193011244 193011244 single base substitution G A intron_variant PACA-CA 1 193011525 193011525 single base substitution C T intron_variant PACA-CA 1 193014843 193014843 insertion of <=200bp - A downstream_gene_variant PACA-CA 1 193014843 193014843 insertion of <=200bp - A intron_variant PACA-CA 1 193018601 193018601 single base substitution C T downstream_gene_variant PACA-CA 1 193018601 193018601 single base substitution C T intron_variant PACA-CA 1 193019148 193019148 single base substitution C T downstream_gene_variant PACA-CA 1 193019148 193019148 single base substitution C T intron_variant PACA-CA 1 193019426 193019426 single base substitution T C downstream_gene_variant PACA-CA 1 193019426 193019426 single base substitution T C intron_variant PACA-CA 1 193021525 193021525 single base substitution A G intron_variant PACA-CA 1 193025014 193025014 single base substitution A C intron_variant PACA-CA 1 193027360 193027360 insertion of <=200bp - A intron_variant PACA-CA 1 193028328 193028328 single base substitution G A 5_prime_UTR_variant PACA-CA 1 193028328 193028328 single base substitution G A exon_variant PACA-CA 1 193028328 193028328 single base substitution G A intron_variant PACA-CA 1 193028328 193028328 single base substitution G A synonymous_variant L21L 63C>T PACA-CA 1 193028328 193028328 single base substitution G A synonymous_variant L33L 99C>T PACA-CA 1 193029733 193029733 single base substitution G C upstream_gene_variant PACA-CA 1 193032741 193032741 single base substitution C T upstream_gene_variant PAEN-AU 1 193005698 193005698 single base substitution A C intron_variant PAEN-IT 1 192979879 192979879 single base substitution G T downstream_gene_variant PBCA-DE 1 192981395 192981395 single base substitution T A 3_prime_UTR_variant PBCA-DE 1 192981395 192981395 single base substitution T A downstream_gene_variant PBCA-DE 1 192981566 192981566 single base substitution T A 3_prime_UTR_variant PBCA-DE 1 192981566 192981566 single base substitution T A downstream_gene_variant PBCA-DE 1 192984396 192984396 single base substitution C A 3_prime_UTR_variant PBCA-DE 1 192984396 192984396 single base substitution C A downstream_gene_variant PBCA-DE 1 193002694 193002694 single base substitution T A intron_variant PBCA-DE 1 193002694 193002694 single base substitution T A upstream_gene_variant PBCA-DE 1 193011578 193011578 single base substitution C A intron_variant PBCA-DE 1 193012367 193012367 single base substitution C A intron_variant PBCA-DE 1 193016644 193016644 insertion of <=200bp - T downstream_gene_variant PBCA-DE 1 193016644 193016644 insertion of <=200bp - T intron_variant PBCA-DE 1 193019165 193019165 single base substitution C T downstream_gene_variant PBCA-DE 1 193019165 193019165 single base substitution C T intron_variant PBCA-DE 1 193019701 193019701 insertion of <=200bp - A downstream_gene_variant PBCA-DE 1 193019701 193019701 insertion of <=200bp - A intron_variant PBCA-DE 1 193021589 193021589 single base substitution C T intron_variant PBCA-DE 1 193028270 193028270 single base substitution C T intron_variant PBCA-DE 1 193028762 193028762 single base substitution C T splice_donor_variant PBCA-DE 1 193028762 193028762 single base substitution C T upstream_gene_variant PRAD-CA 1 192978970 192978970 single base substitution A T downstream_gene_variant PRAD-CA 1 193024161 193024161 single base substitution A C intron_variant PRAD-UK 1 192987380 192987380 single base substitution T G downstream_gene_variant PRAD-UK 1 192987380 192987380 single base substitution T G intron_variant PRAD-UK 1 192999268 192999268 single base substitution G A intron_variant PRAD-UK 1 192999268 192999268 single base substitution G A upstream_gene_variant PRAD-UK 1 193001326 193001326 single base substitution G C intron_variant PRAD-UK 1 193001326 193001326 single base substitution G C upstream_gene_variant PRAD-UK 1 193005491 193005495 deletion of <=200bp TATAT - intron_variant PRAD-UK 1 193011507 193011507 single base substitution C A intron_variant PRAD-UK 1 193011851 193011851 single base substitution G A intron_variant PRAD-UK 1 193017522 193017522 single base substitution T C downstream_gene_variant PRAD-UK 1 193017522 193017522 single base substitution T C intron_variant PRAD-UK 1 193018588 193018591 deletion of <=200bp GCCT - downstream_gene_variant PRAD-UK 1 193018588 193018591 deletion of <=200bp GCCT - intron_variant PRAD-UK 1 193021508 193021508 insertion of <=200bp - T intron_variant PRAD-UK 1 193023431 193023431 single base substitution T C intron_variant PRAD-UK 1 193024940 193024940 single base substitution T C intron_variant PRAD-UK 1 193033357 193033357 single base substitution G A upstream_gene_variant READ-US 1 192998523 192998523 single base substitution G A synonymous_variant F134F 402C>T READ-US 1 192998523 192998523 single base substitution G A synonymous_variant F143F 429C>T READ-US 1 192998523 192998523 single base substitution G A synonymous_variant F155F 465C>T READ-US 1 192998523 192998523 single base substitution G A synonymous_variant F19F 57C>T READ-US 1 192998523 192998523 single base substitution G A synonymous_variant F33F 99C>T READ-US 1 192998523 192998523 single base substitution G A upstream_gene_variant RECA-EU 1 192980188 192980188 single base substitution T A downstream_gene_variant RECA-EU 1 192999312 192999312 single base substitution G A intron_variant RECA-EU 1 192999312 192999312 single base substitution G A upstream_gene_variant RECA-EU 1 193003592 193003592 single base substitution T G intron_variant RECA-EU 1 193003592 193003592 single base substitution T G upstream_gene_variant RECA-EU 1 193025029 193025029 single base substitution A C intron_variant RECA-EU 1 193027668 193027668 single base substitution A C intron_variant RECA-EU 1 193030814 193030814 single base substitution T A upstream_gene_variant RECA-EU 1 193033686 193033686 single base substitution T C upstream_gene_variant SKCA-BR 1 192980412 192980412 single base substitution A T downstream_gene_variant SKCA-BR 1 192986478 192986478 single base substitution A G downstream_gene_variant SKCA-BR 1 192986478 192986478 single base substitution A G intron_variant SKCA-BR 1 192990563 192990563 single base substitution C T downstream_gene_variant SKCA-BR 1 192990563 192990563 single base substitution C T intron_variant SKCA-BR 1 192990564 192990564 single base substitution C T downstream_gene_variant SKCA-BR 1 192990564 192990564 single base substitution C T intron_variant SKCA-BR 1 192992638 192992638 single base substitution A C intron_variant SKCA-BR 1 192993057 192993057 single base substitution G A stop_gained R107* 319C>T SKCA-BR 1 192993057 192993057 single base substitution G A stop_gained R208* 622C>T SKCA-BR 1 192993057 192993057 single base substitution G A stop_gained R217* 649C>T SKCA-BR 1 192993057 192993057 single base substitution G A stop_gained R244* 730C>T SKCA-BR 1 192993057 192993057 single base substitution G A stop_gained R256* 766C>T SKCA-BR 1 192993057 192993057 single base substitution G A stop_gained R5* 13C>T SKCA-BR 1 192993057 192993057 single base substitution G A stop_gained R72* 214C>T SKCA-BR 1 192993057 192993057 single base substitution G A stop_gained R93* 277C>T SKCA-BR 1 192993057 192993057 single base substitution G A upstream_gene_variant SKCA-BR 1 192996268 192996268 single base substitution G A intron_variant SKCA-BR 1 192996268 192996268 single base substitution G A upstream_gene_variant SKCA-BR 1 193004209 193004209 single base substitution G A intron_variant SKCA-BR 1 193007510 193007510 single base substitution G A intron_variant SKCA-BR 1 193010081 193010081 single base substitution A G intron_variant SKCA-BR 1 193012279 193012279 insertion of <=200bp - AT intron_variant SKCA-BR 1 193012281 193012281 insertion of <=200bp - TTAAAAAAAAAA intron_variant SKCA-BR 1 193012281 193012281 insertion of <=200bp - TTAAAAAAAA intron_variant SKCA-BR 1 193012281 193012281 insertion of <=200bp - TTAAAAAA intron_variant SKCA-BR 1 193012282 193012282 single base substitution A T intron_variant SKCA-BR 1 193018426 193018426 single base substitution C A downstream_gene_variant SKCA-BR 1 193018426 193018426 single base substitution C A intron_variant SKCA-BR 1 193019885 193019885 insertion of <=200bp - GA downstream_gene_variant SKCA-BR 1 193019885 193019885 insertion of <=200bp - GA intron_variant SKCA-BR 1 193020402 193020402 single base substitution G A downstream_gene_variant SKCA-BR 1 193020402 193020402 single base substitution G A intron_variant SKCA-BR 1 193020606 193020606 insertion of <=200bp - TA downstream_gene_variant SKCA-BR 1 193020606 193020606 insertion of <=200bp - TA intron_variant SKCA-BR 1 193023152 193023152 insertion of <=200bp - CA intron_variant SKCA-BR 1 193026961 193026961 single base substitution T C intron_variant SKCA-BR 1 193027884 193027884 single base substitution C A intron_variant SKCA-BR 1 193028099 193028099 single base substitution C T intron_variant SKCM-US 1 192998407 192998407 single base substitution G A missense_variant S11L 32C>T SKCM-US 1 192998407 192998407 single base substitution G A missense_variant S147L 440C>T SKCM-US 1 192998407 192998407 single base substitution G A missense_variant S156L 467C>T SKCM-US 1 192998407 192998407 single base substitution G A missense_variant S168L 503C>T SKCM-US 1 192998407 192998407 single base substitution G A missense_variant S32L 95C>T SKCM-US 1 192998407 192998407 single base substitution G A missense_variant S46L 137C>T SKCM-US 1 193018906 193018906 single base substitution G A 5_prime_UTR_variant SKCM-US 1 193018906 193018906 single base substitution G A downstream_gene_variant SKCM-US 1 193018906 193018906 single base substitution G A exon_variant SKCM-US 1 193018906 193018906 single base substitution G A intron_variant SKCM-US 1 193018906 193018906 single base substitution G A synonymous_variant S63S 189C>T SKCM-US 1 193018906 193018906 single base substitution G A synonymous_variant S72S 216C>T SKCM-US 1 193018906 193018906 single base substitution G A synonymous_variant S84S 252C>T STAD-US 1 193018904 193018904 single base substitution C T 5_prime_UTR_variant STAD-US 1 193018904 193018904 single base substitution C T downstream_gene_variant STAD-US 1 193018904 193018904 single base substitution C T exon_variant STAD-US 1 193018904 193018904 single base substitution C T intron_variant STAD-US 1 193018904 193018904 single base substitution C T missense_variant R64Q 191G>A STAD-US 1 193018904 193018904 single base substitution C T missense_variant R73Q 218G>A STAD-US 1 193018904 193018904 single base substitution C T missense_variant R85Q 254G>A UCEC-US 1 192992063 192992063 single base substitution C A downstream_gene_variant UCEC-US 1 192992063 192992063 single base substitution C A missense_variant R135I 404G>T UCEC-US 1 192992063 192992063 single base substitution C A missense_variant R155I 464G>T UCEC-US 1 192992063 192992063 single base substitution C A missense_variant R156I 467G>T UCEC-US 1 192992063 192992063 single base substitution C A missense_variant R170I 509G>T UCEC-US 1 192992063 192992063 single base substitution C A missense_variant R279I 836G>T UCEC-US 1 192992063 192992063 single base substitution C A missense_variant R280I 839G>T UCEC-US 1 192992063 192992063 single base substitution C A missense_variant R306I 917G>T UCEC-US 1 192992063 192992063 single base substitution C A missense_variant R319I 956G>T UCEC-US 1 192992063 192992063 single base substitution C A missense_variant R61I 182G>T UCEC-US 1 192992063 192992063 single base substitution C A missense_variant R67I 200G>T UCEC-US 1 192992090 192992090 single base substitution A G downstream_gene_variant UCEC-US 1 192992090 192992090 single base substitution A G missense_variant I126T 377T>C UCEC-US 1 192992090 192992090 single base substitution A G missense_variant I146T 437T>C UCEC-US 1 192992090 192992090 single base substitution A G missense_variant I147T 440T>C UCEC-US 1 192992090 192992090 single base substitution A G missense_variant I161T 482T>C UCEC-US 1 192992090 192992090 single base substitution A G missense_variant I270T 809T>C UCEC-US 1 192992090 192992090 single base substitution A G missense_variant I271T 812T>C UCEC-US 1 192992090 192992090 single base substitution A G missense_variant I297T 890T>C UCEC-US 1 192992090 192992090 single base substitution A G missense_variant I310T 929T>C UCEC-US 1 192992090 192992090 single base substitution A G missense_variant I52T 155T>C UCEC-US 1 192992090 192992090 single base substitution A G missense_variant I58T 173T>C UCEC-US 1 192992122 192992122 single base substitution A G synonymous_variant I115I 345T>C UCEC-US 1 192992122 192992122 single base substitution A G synonymous_variant I135I 405T>C UCEC-US 1 192992122 192992122 single base substitution A G synonymous_variant I136I 408T>C UCEC-US 1 192992122 192992122 single base substitution A G synonymous_variant I150I 450T>C UCEC-US 1 192992122 192992122 single base substitution A G synonymous_variant I250I 750T>C UCEC-US 1 192992122 192992122 single base substitution A G synonymous_variant I259I 777T>C UCEC-US 1 192992122 192992122 single base substitution A G synonymous_variant I260I 780T>C UCEC-US 1 192992122 192992122 single base substitution A G synonymous_variant I286I 858T>C UCEC-US 1 192992122 192992122 single base substitution A G synonymous_variant I299I 897T>C UCEC-US 1 192992122 192992122 single base substitution A G synonymous_variant I41I 123T>C UCEC-US 1 192992122 192992122 single base substitution A G synonymous_variant I47I 141T>C UCEC-US 1 192993052 192993052 single base substitution A G 5_prime_UTR_variant UCEC-US 1 192993052 192993052 single base substitution A G synonymous_variant F108F 324T>C UCEC-US 1 192993052 192993052 single base substitution A G synonymous_variant F209F 627T>C UCEC-US 1 192993052 192993052 single base substitution A G synonymous_variant F218F 654T>C UCEC-US 1 192993052 192993052 single base substitution A G synonymous_variant F245F 735T>C UCEC-US 1 192993052 192993052 single base substitution A G synonymous_variant F257F 771T>C UCEC-US 1 192993052 192993052 single base substitution A G synonymous_variant F6F 18T>C UCEC-US 1 192993052 192993052 single base substitution A G synonymous_variant F73F 219T>C UCEC-US 1 192993052 192993052 single base substitution A G synonymous_variant F94F 282T>C UCEC-US 1 192998688 192998688 single base substitution C A 5_prime_UTR_variant UCEC-US 1 192998688 192998688 single base substitution C A stop_gained E107* 319G>T UCEC-US 1 192998688 192998688 single base substitution C A stop_gained E116* 346G>T UCEC-US 1 192998688 192998688 single base substitution C A stop_gained E128* 382G>T UCEC-US 1 192998688 192998688 single base substitution C A stop_gained E6* 16G>T UCEC-US 1 192998688 192998688 single base substitution C A upstream_gene_variant UCEC-US 1 193018894 193018894 single base substitution C T 5_prime_UTR_variant UCEC-US 1 193018894 193018894 single base substitution C T downstream_gene_variant UCEC-US 1 193018894 193018894 single base substitution C T exon_variant UCEC-US 1 193018894 193018894 single base substitution C T intron_variant UCEC-US 1 193018894 193018894 single base substitution C T synonymous_variant T67T 201G>A UCEC-US 1 193018894 193018894 single base substitution C T synonymous_variant T76T 228G>A UCEC-US 1 193018894 193018894 single base substitution C T synonymous_variant T88T 264G>A UCEC-US 1 193020941 193020941 single base substitution C T 5_prime_UTR_variant UCEC-US 1 193020941 193020941 single base substitution C T exon_variant UCEC-US 1 193020941 193020941 single base substitution C T missense_variant R159Q 476G>A UCEC-US 1 193020941 193020941 single base substitution C T missense_variant R19Q 56G>A UCEC-US 1 193020941 193020941 single base substitution C T missense_variant R28Q 83G>A UCEC-US 1 193020941 193020941 single base substitution C T missense_variant R40Q 119G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand HCC2998 COSM1668306 c.632A>G p.Y211C Substitution - Missense 1:193023944-193023944 - TCGA-85-6561-01 COSM677411 c.630-1G>T p.? Unknown 1:193023947-193023947 - BK0017 COSM4185996 c.287T>C p.V96A Substitution - Missense 1:193029617-193029617 - 169 COSM2124082 c.177G>A p.Q59Q Substitution - coding silent 1:193049815-193049815 - TCGA-CD-A4MG-01 COSM1337362 c.218G>A p.R73Q Substitution - Missense 1:193049774-193049774 - TCGA-13-0904-01 COSM73192 c.223G>C p.D75H Substitution - Missense 1:193049769-193049769 - CR007 COSM4994625 c.447T>A p.F149L Substitution - Missense 1:193029297-193029297 - LUAD-S01405 COSM399030 c.979G>T p.E327* Substitution - Nonsense 1:193016362-193016362 - TCGA-AA-3492-01 COSM5827639 c.946-3delT p.? Unknown 1:193016398-193016398 - TCGA-AX-A06B-01 COSM901354 c.812T>C p.I271T Substitution - Missense 1:193022960-193022960 - TCGA-FI-A2F8-01 COSM901359 c.364G>C p.D122H Substitution - Missense 1:193029540-193029540 - ESCC_113 COSM5639566 c.59A>T p.E20V Substitution - Missense 1:193059202-193059202 - TCGA-AX-A05Z-01 COSM901353 c.839G>T p.R280I Substitution - Missense 1:193022933-193022933 - LIM2405 COSM4613283 c.237_238insT p.A80fs*2 Insertion - Frameshift 1:193049754-193049755 - 113364 COSM95425 c.482A>G p.D161G Substitution - Missense 1:193029262-193029262 - TCGA-D1-A174-01 COSM901363 c.81C>T p.C27C Substitution - coding silent 1:193051813-193051813 - TCGA-34-5231-01 COSM677408 c.8G>T p.G3V Substitution - Missense 1:193059253-193059253 - TCGA-UB-A7MB-01 COSM677411 c.630-1G>T p.? Unknown 1:193023947-193023947 - TCGA-AX-A0J0-01 COSM901357 c.654T>C p.F218F Substitution - coding silent 1:193023922-193023922 - TCGA-BS-A0UV-01 COSM901360 c.346G>T p.E116* Substitution - Nonsense 1:193029558-193029558 - B22 COSM1748028 c.687G>A p.M229I Substitution - Missense 1:193023889-193023889 - PCSI_0102_Pa_P COSM216905 c.63C>T p.L21L Substitution - coding silent 1:193059198-193059198 - TCGA-AA-3510-01 COSM1337362 c.218G>A p.R73Q Substitution - Missense 1:193049774-193049774 - TCGA-EE-A3JA-06 COSM1689457 c.467C>T p.S156L Substitution - Missense 1:193029277-193029277 - TCGA-66-2757-01 COSM677409 c.141-1G>T p.? Unknown 1:193049852-193049852 - YUAKER COSM1689457 c.467C>T p.S156L Substitution - Missense 1:193029277-193029277 - CCK81 COSM2124084 c.174G>A p.W58* Substitution - Nonsense 1:193049818-193049818 - PT52 COSM5938794 c.979G>A p.E327K Substitution - Missense 1:193016362-193016362 - D01 COSM5544337 c.847-1G>A p.? Unknown 1:193021196-193021196 - Gp5D COSM2124082 c.177G>A p.Q59Q Substitution - coding silent 1:193049815-193049815 - TCGA-DI-A0WH-01 COSM901358 c.432C>T p.A144A Substitution - coding silent 1:193029390-193029390 - S02291 COSM5686900 c.666C>T p.A222A Substitution - coding silent 1:193023910-193023910 - TCGA-D1-A17S-01 COSM901356 c.721C>A p.Q241K Substitution - Missense 1:193023855-193023855 - TCGA-CA-6717-01 COSM1337360 c.429C>T p.F143F Substitution - coding silent 1:193029393-193029393 - 587376 COSM1231646 c.534A>C p.L178F Substitution - Missense 1:193029210-193029210 - ESO-187 COSM1269680 c.67A>C p.K23Q Substitution - Missense 1:193059194-193059194 - CSCC-55-T COSM4544825 c.364G>A p.D122N Substitution - Missense 1:193029540-193029540 - BD236T COSM1337360 c.429C>T p.F143F Substitution - coding silent 1:193029393-193029393 - 28 COSM173824 c.964G>A p.A322T Substitution - Missense 1:193016377-193016377 - LUAD-S01302 COSM395815 c.492C>G p.H164Q Substitution - Missense 1:193029252-193029252 - PCSI_0102_Pa_P_526 COSM216905 c.63C>T p.L21L Substitution - coding silent 1:193059198-193059198 - ESO-2143 COSM1269681 c.60G>C p.E20D Substitution - Missense 1:193059201-193059201 - TCGA-A2-A0T0-01 COSM424872 c.419A>G p.H140R Substitution - Missense 1:193029403-193029403 - TCGA-CM-4746-01 COSM1337363 c.217C>T p.R73* Substitution - Nonsense 1:193049775-193049775 - TCGA-GV-A3JZ-01 COSM1295620 c.30C>T p.L10L Substitution - coding silent 1:193059231-193059231 - TCGA-21-5784-01 COSM677410 c.434+2T>A p.? Unknown 1:193029386-193029386 - Gp2D COSM2124082 c.177G>A p.Q59Q Substitution - coding silent 1:193049815-193049815 - TCGA-BS-A0UV-01 COSM901362 c.83G>A p.R28Q Substitution - Missense 1:193051811-193051811 - TCGA-AP-A054-01 COSM901355 c.780T>C p.I260I Substitution - coding silent 1:193022992-193022992 - PD24220a COSM5791061 c.337G>C p.E113Q Substitution - Missense 1:193029567-193029567 - B22-Tumor COSM1748028 c.687G>A p.M229I Substitution - Missense 1:193023889-193023889 - PT46 COSM5928222 c.649C>T p.R217* Substitution - Nonsense 1:193023927-193023927 - 100879 COSM96260 c.555G>T p.P185P Substitution - coding silent 1:193029189-193029189 - TCGA-B5-A11E-01 COSM901361 c.228G>A p.T76T Substitution - coding silent 1:193049764-193049764 - TCGA-DR-A0ZM-01 COSM458335 c.751G>C p.D251H Substitution - Missense 1:193023021-193023021 - TCGA-EI-6917-01 COSM1337360 c.429C>T p.F143F Substitution - coding silent 1:193029393-193029393 - HCC2998 COSM1668306 c.632A>G p.Y211C Substitution - Missense 1:193023944-193023944 - TCGA-D8-A1JA-01 COSM3803243 c.754C>G p.Q252E Substitution - Missense 1:193023018-193023018 - SNU-C2B COSM2124064 c.578A>G p.Q193R Substitution - Missense 1:193028136-193028136 - TCGA-EE-A2MS-06 COSM3480563 c.216C>T p.S72S Substitution - coding silent 1:193049776-193049776 - TCGA-FD-A3B6-01 COSM1295619 c.97G>T p.E33* Substitution - Nonsense 1:193051797-193051797 - S02237 COSM5676367 c.247-3T>C p.? Unknown 1:193029660-193029660 - TARGET-30-PARDCK COSM1288808 c.643G>T p.E215* Substitution - Nonsense 1:193023933-193023933 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.145469 1q32 610667

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.I22M c.66T>G 1 193028325 HNSC A G Missense p.I271T c.812T>C 1 192992090 UCEC A G Synonymous p.I260I c.780T>C 1 192992122 UCEC A T SpliceDonorSNV . c.434+2T>A 1 192998516 LUSC C A Missense p.G3V c.8G>T 1 193028383 LUSC C A Nonsense p.E215* c.643G>T 1 192993063 NB C A Nonsense p.E33* c.97G>T 1 193020927 BLCA C A SpliceAcceptorSNV . c.141-1G>T 1 193018982 LUSC C A SpliceAcceptorSNV . c.630-1G>T 1 192993077 LUSC C G Missense p.D75H c.223G>C 1 193018899 OV C G Missense p.E20D c.60G>C 1 193028331 ESCA C T 5-UTRSNV . c.1-17G>A 1 193028407 ESCA C T Missense p.A322T c.964G>A 1 192985507 COREAD C T Missense p.D251N c.751G>A 1 192992151 LUAD C T Missense p.G184E c.551G>A 1 192998323 LUAD G A IntronicSNV . c.247-732C>T 1 192999519 CLL G A Missense p.S156L c.467C>T 1 192998407 CM G A Synonymous p.L10L c.30C>T 1 193028361 BLCA G A Synonymous p.L21L c.63C>T 1 193028328 PAAD G A Synonymous p.S72S c.216C>T 1 193018906 CM G C Missense p.A325G c.974C>G 1 192985497 HNSC T A Synonymous p.A123A c.369A>T 1 192998665 LUAD T C Missense p.H140R c.419A>G 1 192998533 BRCA T G Missense p.K23Q c.67A>C 1 193028324 ESCA T G Synonymous p.R201R c.601A>C 1 192997243 MM T - IntronicDeletion . c.246+165delA 1 193018711 STAD