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 7 156469120 156469120 + Missense_Mutation SNP G G A TCGA-OR-A5LJ-01A-11D-A29I-10 TCGA-OR-A5LJ-10A-01D-A29L-10 g.chr7:156469120G>A c.860G>A c.(859-861)cGc>cAc p.R287H BLCA 7 156437437 156437437 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr7:156437437C>G c.260C>G c.(259-261)cCg>cGg p.P87R BRCA 7 156437412 156437412 + Missense_Mutation SNP G G C TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 g.chr7:156437412G>C c.235G>C c.(235-237)Gaa>Caa p.E79Q BRCA 7 156450902 156450902 + Silent SNP G G A TCGA-A1-A0SI-01A-11D-A142-09 TCGA-A1-A0SI-10B-01D-A142-09 g.chr7:156450902G>A c.531G>A c.(529-531)gtG>gtA p.V177V BRCA 7 156469233 156469233 + Missense_Mutation SNP G G A TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr7:156469233G>A c.973G>A c.(973-975)Gtg>Atg p.V325M CESC 7 156468504 156468504 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr7:156468504G>C c.799G>C c.(799-801)Gaa>Caa p.E267Q CESC 7 156468519 156468519 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr7:156468519G>A c.814G>A c.(814-816)Gag>Aag p.E272K COAD 7 156437333 156437333 + Frame_Shift_Del DEL A A - TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr7:156437333delA c.156delA c.(154-156)ctafs p.L52fs COAD 7 156447392 156447392 + Nonsense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr7:156447392G>T c.397G>T c.(397-399)Gaa>Taa p.E133* COAD 7 156447397 156447397 + Silent SNP C C T TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr7:156447397C>T c.402C>T c.(400-402)ttC>ttT p.F134F COAD 7 156451243 156451243 + Frame_Shift_Del DEL A A - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr7:156451243delA c.663delA c.(661-663)agafs p.R221fs COAD 7 156468409 156468409 + Missense_Mutation SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr7:156468409G>A c.704G>A c.(703-705)cGc>cAc p.R235H COAD 7 156468481 156468481 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:156468481G>A c.776G>A c.(775-777)cGa>cAa p.R259Q COADREAD 7 156437333 156437333 + Frame_Shift_Del DEL A A - TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr7:156437333delA c.156delA c.(154-156)ctafs p.L52fs COADREAD 7 156447392 156447392 + Nonsense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr7:156447392G>T c.397G>T c.(397-399)Gaa>Taa p.E133* COADREAD 7 156447397 156447397 + Silent SNP C C T TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr7:156447397C>T c.402C>T c.(400-402)ttC>ttT p.F134F COADREAD 7 156451243 156451243 + Frame_Shift_Del DEL A A - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr7:156451243delA c.663delA c.(661-663)agafs p.R221fs COADREAD 7 156468409 156468409 + Missense_Mutation SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr7:156468409G>A c.704G>A c.(703-705)cGc>cAc p.R235H COADREAD 7 156468481 156468481 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:156468481G>A c.776G>A c.(775-777)cGa>cAa p.R259Q ESCA 7 156437370 156437370 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr7:156437370delA c.193delA c.(193-195)aaafs p.K66fs ESCA 7 156450240 156450240 + Silent SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 g.chr7:156450240G>T c.423G>T c.(421-423)ctG>ctT p.L141L GBM 7 156451221 156451221 + Missense_Mutation SNP C C G TCGA-28-5220-01A-01D-1486-08 TCGA-28-5220-10A-01D-1486-08 g.chr7:156451221C>G c.641C>G c.(640-642)cCt>cGt p.P214R GBMLGG 7 156437272 156437272 + Missense_Mutation SNP G G A TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 g.chr7:156437272G>A c.95G>A c.(94-96)cGa>cAa p.R32Q GBMLGG 7 156437435 156437435 + Silent SNP G G A TCGA-DU-A76L-01A-11D-A32B-08 TCGA-DU-A76L-10A-01D-A329-08 g.chr7:156437435G>A c.258G>A c.(256-258)ccG>ccA p.P86P GBMLGG 7 156447399 156447399 + Missense_Mutation SNP A A G TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 g.chr7:156447399A>G c.404A>G c.(403-405)gAg>gGg p.E135G GBMLGG 7 156451221 156451221 + Missense_Mutation SNP C C G TCGA-28-5220-01A-01D-1486-08 TCGA-28-5220-10A-01D-1486-08 g.chr7:156451221C>G c.641C>G c.(640-642)cCt>cGt p.P214R GBMLGG 7 156468554 156468554 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:156468554G>A c.849G>A c.(847-849)gtG>gtA p.V283V HNSC 7 156437207 156437207 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr7:156437207G>C c.30G>C c.(28-30)aaG>aaC p.K10N HNSC 7 156451242 156451242 + Missense_Mutation SNP G G A TCGA-HD-A4C1-01A-11D-A24D-08 TCGA-HD-A4C1-10A-02D-A24F-08 g.chr7:156451242G>A c.662G>A c.(661-663)aGa>aAa p.R221K KICH 7 156437191 156437191 + Splice_Site SNP A A G TCGA-KN-8424-01A-11D-2310-10 TCGA-KN-8424-11A-01D-2310-10 g.chr7:156437191A>G c.e4-1 KIPAN 7 156437191 156437191 + Splice_Site SNP A A G TCGA-KN-8424-01A-11D-2310-10 TCGA-KN-8424-11A-01D-2310-10 g.chr7:156437191A>G c.e4-1 KIPAN 7 156450264 156450264 + Silent SNP C C T TCGA-BP-4977-01A-01D-1462-08 TCGA-BP-4977-11A-01D-1462-08 g.chr7:156450264C>T c.447C>T c.(445-447)caC>caT p.H149H KIPAN 7 156451243 156451243 + Frame_Shift_Del DEL A A - TCGA-4A-A93W-01A-11D-A36X-10 TCGA-4A-A93W-10A-01D-A370-10 g.chr7:156451243delA c.663delA c.(661-663)agafs p.R221fs KIRC 7 156450264 156450264 + Silent SNP C C T TCGA-BP-4977-01A-01D-1462-08 TCGA-BP-4977-11A-01D-1462-08 g.chr7:156450264C>T c.447C>T c.(445-447)caC>caT p.H149H KIRP 7 156451243 156451243 + Frame_Shift_Del DEL A A - TCGA-4A-A93W-01A-11D-A36X-10 TCGA-4A-A93W-10A-01D-A370-10 g.chr7:156451243delA c.663delA c.(661-663)agafs p.R221fs LGG 7 156437272 156437272 + Missense_Mutation SNP G G A TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 g.chr7:156437272G>A c.95G>A c.(94-96)cGa>cAa p.R32Q LGG 7 156437435 156437435 + Silent SNP G G A TCGA-DU-A76L-01A-11D-A32B-08 TCGA-DU-A76L-10A-01D-A329-08 g.chr7:156437435G>A c.258G>A c.(256-258)ccG>ccA p.P86P LGG 7 156447399 156447399 + Missense_Mutation SNP A A G TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 g.chr7:156447399A>G c.404A>G c.(403-405)gAg>gGg p.E135G LGG 7 156468554 156468554 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:156468554G>A c.849G>A c.(847-849)gtG>gtA p.V283V LUAD 7 156450897 156450897 + Silent SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 g.chr7:156450897C>A c.526C>A c.(526-528)Cga>Aga p.R176R LUAD 7 156468537 156468537 + Missense_Mutation SNP T T A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 g.chr7:156468537T>A c.832T>A c.(832-834)Tgg>Agg p.W278R LUAD 7 156469227 156469227 + Missense_Mutation SNP T T A TCGA-69-8253-01A-11D-2284-08 TCGA-69-8253-10A-01D-2284-08 g.chr7:156469227T>A c.967T>A c.(967-969)Tca>Aca p.S323T LUAD 7 156469341 156469341 + Missense_Mutation SNP G G C TCGA-69-8253-01A-11D-2284-08 TCGA-69-8253-10A-01D-2284-08 g.chr7:156469341G>C c.1081G>C c.(1081-1083)Gaa>Caa p.E361Q LUSC 7 156469341 156469341 + Missense_Mutation SNP G G C TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 g.chr7:156469341G>C c.1081G>C c.(1081-1083)Gaa>Caa p.E361Q OV 7 156447365 156447365 + Missense_Mutation SNP G G A TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 g.chr7:156447365G>A c.370G>A c.(370-372)Gtg>Atg p.V124M PAAD 7 156437421 156437421 + Missense_Mutation SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 g.chr7:156437421C>A c.244C>A c.(244-246)Ctt>Att p.L82I PAAD 7 156468427 156468427 + Missense_Mutation SNP A A C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:156468427A>C c.722A>C c.(721-723)aAc>aCc p.N241T PAAD 7 156468458 156468458 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:156468458C>T c.753C>T c.(751-753)atC>atT p.I251I PRAD 7 156437440 156437440 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr7:156437440C>T c.263C>T c.(262-264)cCg>cTg p.P88L PRAD 7 156469181 156469181 + Silent SNP C C T TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 g.chr7:156469181C>T c.921C>T c.(919-921)cgC>cgT p.R307R SKCM 7 156437203 156437203 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr7:156437203C>T c.26C>T c.(25-27)tCt>tTt p.S9F SKCM 7 156447389 156447389 + Missense_Mutation SNP G G A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr7:156447389G>A c.394G>A c.(394-396)Gaa>Aaa p.E132K SKCM 7 156447389 156447389 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr7:156447389G>A c.394G>A c.(394-396)Gaa>Aaa p.E132K SKCM 7 156451241 156451241 + Missense_Mutation SNP A A G TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 g.chr7:156451241A>G c.661A>G c.(661-663)Aga>Gga p.R221G SKCM 7 156468501 156468501 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr7:156468501G>A c.796G>A c.(796-798)Gaa>Aaa p.E266K

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 7 156447365 156447365 single base substitution G A 3_prime_UTR_variant BLCA-CN 7 156447365 156447365 single base substitution G A exon_variant BLCA-CN 7 156447365 156447365 single base substitution G A intron_variant BLCA-CN 7 156447365 156447365 single base substitution G A missense_variant V124M 370G>A BLCA-CN 7 156447365 156447365 single base substitution G A upstream_gene_variant BLCA-CN 7 156469348 156469348 single base substitution G T 3_prime_UTR_variant BLCA-CN 7 156469348 156469348 single base substitution G T stop_lost *339L 1016G>T BLCA-CN 7 156469348 156469348 single base substitution G T stop_lost *363L 1088G>T BLCA-US 7 156437437 156437437 single base substitution C G downstream_gene_variant BLCA-US 7 156437437 156437437 single base substitution C G exon_variant BLCA-US 7 156437437 156437437 single base substitution C G missense_variant P87R 260C>G BOCA-FR 7 156449887 156449887 single base substitution C T downstream_gene_variant BOCA-FR 7 156449887 156449887 single base substitution C T intron_variant BOCA-FR 7 156449887 156449887 single base substitution C T upstream_gene_variant BOCA-FR 7 156452134 156452134 single base substitution G A 3_prime_UTR_variant BOCA-FR 7 156452134 156452134 single base substitution G A downstream_gene_variant BOCA-FR 7 156452134 156452134 single base substitution G A intron_variant BOCA-FR 7 156458740 156458740 single base substitution T C intron_variant BRCA-EU 7 156429422 156429422 single base substitution C A upstream_gene_variant BRCA-EU 7 156431385 156431385 single base substitution C T upstream_gene_variant BRCA-EU 7 156432434 156432434 single base substitution C G upstream_gene_variant BRCA-EU 7 156433598 156433598 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 7 156433598 156433598 single base substitution C T exon_variant BRCA-EU 7 156433598 156433598 single base substitution C T intron_variant BRCA-EU 7 156433598 156433598 single base substitution C T upstream_gene_variant BRCA-EU 7 156433759 156433759 single base substitution G C intron_variant BRCA-EU 7 156433759 156433759 single base substitution G C upstream_gene_variant BRCA-EU 7 156433787 156433787 single base substitution G C intron_variant BRCA-EU 7 156433787 156433787 single base substitution G C upstream_gene_variant BRCA-EU 7 156434155 156434155 single base substitution C G intron_variant BRCA-EU 7 156434155 156434155 single base substitution C G upstream_gene_variant BRCA-EU 7 156435642 156435642 single base substitution G C intron_variant BRCA-EU 7 156435642 156435642 single base substitution G C upstream_gene_variant BRCA-EU 7 156435902 156435902 single base substitution A G intron_variant BRCA-EU 7 156435902 156435902 single base substitution A G upstream_gene_variant BRCA-EU 7 156436355 156436355 single base substitution G C intron_variant BRCA-EU 7 156436355 156436355 single base substitution G C upstream_gene_variant BRCA-EU 7 156436421 156436421 single base substitution C A intron_variant BRCA-EU 7 156436421 156436421 single base substitution C A upstream_gene_variant BRCA-EU 7 156436500 156436500 single base substitution G C 5_prime_UTR_variant BRCA-EU 7 156436500 156436500 single base substitution G C exon_variant BRCA-EU 7 156436500 156436500 single base substitution G C upstream_gene_variant BRCA-EU 7 156437126 156437126 single base substitution T G intron_variant BRCA-EU 7 156437126 156437126 single base substitution T G upstream_gene_variant BRCA-EU 7 156437271 156437271 single base substitution C T downstream_gene_variant BRCA-EU 7 156437271 156437271 single base substitution C T exon_variant BRCA-EU 7 156437271 156437271 single base substitution C T stop_gained R32* 94C>T BRCA-EU 7 156437271 156437271 single base substitution C T upstream_gene_variant BRCA-EU 7 156437552 156437552 single base substitution A G downstream_gene_variant BRCA-EU 7 156437552 156437552 single base substitution A G intron_variant BRCA-EU 7 156437839 156437839 single base substitution C A downstream_gene_variant BRCA-EU 7 156437839 156437839 single base substitution C A intron_variant BRCA-EU 7 156438690 156438690 single base substitution C T downstream_gene_variant BRCA-EU 7 156438690 156438690 single base substitution C T intron_variant BRCA-EU 7 156439458 156439458 single base substitution G C downstream_gene_variant BRCA-EU 7 156439458 156439458 single base substitution G C intron_variant BRCA-EU 7 156439857 156439857 deletion of <=200bp A - downstream_gene_variant BRCA-EU 7 156439857 156439857 deletion of <=200bp A - intron_variant BRCA-EU 7 156440764 156440764 single base substitution G T downstream_gene_variant BRCA-EU 7 156440764 156440764 single base substitution G T intron_variant BRCA-EU 7 156441472 156441472 single base substitution G C downstream_gene_variant BRCA-EU 7 156441472 156441472 single base substitution G C intron_variant BRCA-EU 7 156441842 156441842 single base substitution C T downstream_gene_variant BRCA-EU 7 156441842 156441842 single base substitution C T intron_variant BRCA-EU 7 156443889 156443889 single base substitution T C downstream_gene_variant BRCA-EU 7 156443889 156443889 single base substitution T C intron_variant BRCA-EU 7 156443889 156443889 single base substitution T C upstream_gene_variant BRCA-EU 7 156444525 156444525 single base substitution C G intron_variant BRCA-EU 7 156444525 156444525 single base substitution C G upstream_gene_variant BRCA-EU 7 156444782 156444782 single base substitution A G intron_variant BRCA-EU 7 156444782 156444782 single base substitution A G upstream_gene_variant BRCA-EU 7 156446494 156446494 single base substitution G C intron_variant BRCA-EU 7 156446494 156446494 single base substitution G C upstream_gene_variant BRCA-EU 7 156446548 156446548 single base substitution C T intron_variant BRCA-EU 7 156446548 156446548 single base substitution C T upstream_gene_variant BRCA-EU 7 156447002 156447002 single base substitution G A intron_variant BRCA-EU 7 156447002 156447002 single base substitution G A upstream_gene_variant BRCA-EU 7 156447128 156447128 single base substitution G A intron_variant BRCA-EU 7 156447128 156447128 single base substitution G A upstream_gene_variant BRCA-EU 7 156447250 156447250 single base substitution C G intron_variant BRCA-EU 7 156447250 156447250 single base substitution C G upstream_gene_variant BRCA-EU 7 156450487 156450487 single base substitution T A downstream_gene_variant BRCA-EU 7 156450487 156450487 single base substitution T A intron_variant BRCA-EU 7 156451512 156451512 single base substitution T C downstream_gene_variant BRCA-EU 7 156451512 156451512 single base substitution T C exon_variant BRCA-EU 7 156451512 156451512 single base substitution T C intron_variant BRCA-EU 7 156452648 156452648 single base substitution G A 3_prime_UTR_variant BRCA-EU 7 156452648 156452648 single base substitution G A downstream_gene_variant BRCA-EU 7 156452648 156452648 single base substitution G A intron_variant BRCA-EU 7 156452702 156452702 single base substitution G T 3_prime_UTR_variant BRCA-EU 7 156452702 156452702 single base substitution G T downstream_gene_variant BRCA-EU 7 156452702 156452702 single base substitution G T intron_variant BRCA-EU 7 156452799 156452799 single base substitution G C 3_prime_UTR_variant BRCA-EU 7 156452799 156452799 single base substitution G C downstream_gene_variant BRCA-EU 7 156452799 156452799 single base substitution G C intron_variant BRCA-EU 7 156453017 156453017 single base substitution G C 3_prime_UTR_variant BRCA-EU 7 156453017 156453017 single base substitution G C downstream_gene_variant BRCA-EU 7 156453017 156453017 single base substitution G C intron_variant BRCA-EU 7 156453189 156453189 single base substitution G C downstream_gene_variant BRCA-EU 7 156453189 156453189 single base substitution G C intron_variant BRCA-EU 7 156453191 156453191 single base substitution G C downstream_gene_variant BRCA-EU 7 156453191 156453191 single base substitution G C intron_variant BRCA-EU 7 156453246 156453246 single base substitution T C downstream_gene_variant BRCA-EU 7 156453246 156453246 single base substitution T C intron_variant BRCA-EU 7 156454382 156454382 single base substitution C T downstream_gene_variant BRCA-EU 7 156454382 156454382 single base substitution C T intron_variant BRCA-EU 7 156454656 156454656 single base substitution G T downstream_gene_variant BRCA-EU 7 156454656 156454656 single base substitution G T intron_variant BRCA-EU 7 156454687 156454687 single base substitution G A downstream_gene_variant BRCA-EU 7 156454687 156454687 single base substitution G A intron_variant BRCA-EU 7 156454969 156454969 single base substitution C G downstream_gene_variant BRCA-EU 7 156454969 156454969 single base substitution C G intron_variant BRCA-EU 7 156456817 156456817 single base substitution C T downstream_gene_variant BRCA-EU 7 156456817 156456817 single base substitution C T intron_variant BRCA-EU 7 156458914 156458914 single base substitution G T intron_variant BRCA-EU 7 156459018 156459018 single base substitution T A intron_variant BRCA-EU 7 156459713 156459713 single base substitution G A intron_variant BRCA-EU 7 156462286 156462286 single base substitution C T intron_variant BRCA-EU 7 156463381 156463381 single base substitution G A intron_variant BRCA-EU 7 156465766 156465766 single base substitution G A intron_variant BRCA-EU 7 156466853 156466853 single base substitution G C intron_variant BRCA-EU 7 156467390 156467390 deletion of <=200bp A - intron_variant BRCA-EU 7 156468589 156468589 single base substitution G C intron_variant BRCA-EU 7 156469878 156469878 insertion of <=200bp - A downstream_gene_variant BRCA-EU 7 156470143 156470143 insertion of <=200bp - C downstream_gene_variant BRCA-EU 7 156470844 156470844 single base substitution C G downstream_gene_variant BRCA-EU 7 156471370 156471370 single base substitution C T downstream_gene_variant BRCA-FR 7 156433759 156433759 single base substitution G C intron_variant BRCA-FR 7 156433759 156433759 single base substitution G C upstream_gene_variant BRCA-FR 7 156433787 156433787 single base substitution G C intron_variant BRCA-FR 7 156433787 156433787 single base substitution G C upstream_gene_variant BRCA-FR 7 156435642 156435642 single base substitution G C intron_variant BRCA-FR 7 156435642 156435642 single base substitution G C upstream_gene_variant BRCA-FR 7 156436355 156436355 single base substitution G C intron_variant BRCA-FR 7 156436355 156436355 single base substitution G C upstream_gene_variant BRCA-FR 7 156437271 156437271 single base substitution C T downstream_gene_variant BRCA-FR 7 156437271 156437271 single base substitution C T exon_variant BRCA-FR 7 156437271 156437271 single base substitution C T stop_gained R32* 94C>T BRCA-FR 7 156437271 156437271 single base substitution C T upstream_gene_variant BRCA-FR 7 156447250 156447250 single base substitution C G intron_variant BRCA-FR 7 156447250 156447250 single base substitution C G upstream_gene_variant BRCA-FR 7 156458914 156458914 single base substitution G T intron_variant BRCA-UK 7 156458472 156458472 single base substitution C A intron_variant BRCA-UK 7 156473466 156473466 single base substitution G A downstream_gene_variant BRCA-US 7 156437412 156437412 single base substitution G C downstream_gene_variant BRCA-US 7 156437412 156437412 single base substitution G C exon_variant BRCA-US 7 156437412 156437412 single base substitution G C missense_variant E79Q 235G>C BRCA-US 7 156450902 156450902 single base substitution G A 3_prime_UTR_variant BRCA-US 7 156450902 156450902 single base substitution G A downstream_gene_variant BRCA-US 7 156450902 156450902 single base substitution G A exon_variant BRCA-US 7 156450902 156450902 single base substitution G A synonymous_variant V153V 459G>A BRCA-US 7 156450902 156450902 single base substitution G A synonymous_variant V177V 531G>A BRCA-US 7 156451274 156451274 single base substitution G C downstream_gene_variant BRCA-US 7 156451274 156451274 single base substitution G C exon_variant BRCA-US 7 156451274 156451274 single base substitution G C intron_variant BRCA-US 7 156451374 156451374 single base substitution G C downstream_gene_variant BRCA-US 7 156451374 156451374 single base substitution G C exon_variant BRCA-US 7 156451374 156451374 single base substitution G C intron_variant BRCA-US 7 156469233 156469233 single base substitution G A 3_prime_UTR_variant BRCA-US 7 156469233 156469233 single base substitution G A missense_variant V301M 901G>A BRCA-US 7 156469233 156469233 single base substitution G A missense_variant V325M 973G>A BTCA-JP 7 156436714 156436714 single base substitution C T intron_variant BTCA-JP 7 156436714 156436714 single base substitution C T upstream_gene_variant BTCA-JP 7 156447185 156447185 single base substitution T A intron_variant BTCA-JP 7 156447185 156447185 single base substitution T A upstream_gene_variant BTCA-JP 7 156451642 156451642 single base substitution A T 3_prime_UTR_variant BTCA-JP 7 156451642 156451642 single base substitution A T downstream_gene_variant BTCA-JP 7 156451642 156451642 single base substitution A T exon_variant BTCA-JP 7 156451642 156451642 single base substitution A T intron_variant BTCA-JP 7 156468377 156468377 deletion of <=200bp G - intron_variant BTCA-JP 7 156468931 156468931 single base substitution A G intron_variant BTCA-JP 7 156469275 156469275 single base substitution G A 3_prime_UTR_variant BTCA-JP 7 156469275 156469275 single base substitution G A missense_variant V315M 943G>A BTCA-JP 7 156469275 156469275 single base substitution G A missense_variant V339M 1015G>A BTCA-JP 7 156473783 156473783 single base substitution A C downstream_gene_variant CESC-US 7 156468504 156468504 single base substitution G C 3_prime_UTR_variant CESC-US 7 156468504 156468504 single base substitution G C missense_variant E243Q 727G>C CESC-US 7 156468504 156468504 single base substitution G C missense_variant E267Q 799G>C CESC-US 7 156468519 156468519 single base substitution G A 3_prime_UTR_variant CESC-US 7 156468519 156468519 single base substitution G A missense_variant E248K 742G>A CESC-US 7 156468519 156468519 single base substitution G A missense_variant E272K 814G>A CLLE-ES 7 156448958 156448958 single base substitution G T downstream_gene_variant CLLE-ES 7 156448958 156448958 single base substitution G T intron_variant CLLE-ES 7 156448958 156448958 single base substitution G T upstream_gene_variant CLLE-ES 7 156468637 156468637 single base substitution G C intron_variant CLLE-ES 7 156468818 156468818 single base substitution T C intron_variant CLLE-ES 7 156469010 156469010 single base substitution G A intron_variant CLLE-ES 7 156469010 156469010 single base substitution G A missense_variant E292K 874G>A CLLE-ES 7 156469597 156469597 single base substitution G A 3_prime_UTR_variant COAD-US 7 156436576 156436576 single base substitution T C exon_variant COAD-US 7 156436576 156436576 single base substitution T C missense_variant L2S 5T>C COAD-US 7 156436576 156436576 single base substitution T C upstream_gene_variant COAD-US 7 156437333 156437333 deletion of <=200bp A - downstream_gene_variant COAD-US 7 156437333 156437333 deletion of <=200bp A - exon_variant COAD-US 7 156437333 156437333 deletion of <=200bp A - frameshift_variant L52 COAD-US 7 156447397 156447397 single base substitution C T 3_prime_UTR_variant COAD-US 7 156447397 156447397 single base substitution C T exon_variant COAD-US 7 156447397 156447397 single base substitution C T intron_variant COAD-US 7 156447397 156447397 single base substitution C T synonymous_variant F134F 402C>T COAD-US 7 156447397 156447397 single base substitution C T upstream_gene_variant COAD-US 7 156451243 156451243 deletion of <=200bp A - 3_prime_UTR_variant COAD-US 7 156451243 156451243 deletion of <=200bp A - downstream_gene_variant COAD-US 7 156451243 156451243 deletion of <=200bp A - exon_variant COAD-US 7 156451243 156451243 deletion of <=200bp A - frameshift_variant R197 COAD-US 7 156451243 156451243 deletion of <=200bp A - frameshift_variant R221 COAD-US 7 156468409 156468409 single base substitution G A 3_prime_UTR_variant COAD-US 7 156468409 156468409 single base substitution G A missense_variant R211H 632G>A COAD-US 7 156468409 156468409 single base substitution G A missense_variant R235H 704G>A COAD-US 7 156469133 156469133 single base substitution C G 3_prime_UTR_variant COAD-US 7 156469133 156469133 single base substitution C G missense_variant H267Q 801C>G COAD-US 7 156469133 156469133 single base substitution C G missense_variant H291Q 873C>G COAD-US 7 156469190 156469190 single base substitution A G 3_prime_UTR_variant COAD-US 7 156469190 156469190 single base substitution A G synonymous_variant A286A 858A>G COAD-US 7 156469190 156469190 single base substitution A G synonymous_variant A310A 930A>G COCA-CN 7 156432863 156432863 single base substitution G A upstream_gene_variant COCA-CN 7 156445831 156445831 single base substitution T A intron_variant COCA-CN 7 156445831 156445831 single base substitution T A upstream_gene_variant COCA-CN 7 156447954 156447954 single base substitution C G downstream_gene_variant COCA-CN 7 156447954 156447954 single base substitution C G intron_variant COCA-CN 7 156447954 156447954 single base substitution C G upstream_gene_variant COCA-CN 7 156447989 156447989 single base substitution G T downstream_gene_variant COCA-CN 7 156447989 156447989 single base substitution G T intron_variant COCA-CN 7 156447989 156447989 single base substitution G T upstream_gene_variant COCA-CN 7 156450963 156450963 single base substitution C T downstream_gene_variant COCA-CN 7 156450963 156450963 single base substitution C T intron_variant COCA-CN 7 156458009 156458009 single base substitution T C downstream_gene_variant COCA-CN 7 156458009 156458009 single base substitution T C intron_variant COCA-CN 7 156468348 156468348 single base substitution C T intron_variant COCA-CN 7 156469198 156469198 single base substitution G A 3_prime_UTR_variant COCA-CN 7 156469198 156469198 single base substitution G A missense_variant R289H 866G>A COCA-CN 7 156469198 156469198 single base substitution G A missense_variant R313H 938G>A ESAD-UK 7 156433087 156433087 single base substitution C G intron_variant ESAD-UK 7 156433087 156433087 single base substitution C G upstream_gene_variant ESAD-UK 7 156435433 156435433 single base substitution G A intron_variant ESAD-UK 7 156435433 156435433 single base substitution G A upstream_gene_variant ESAD-UK 7 156437064 156437064 single base substitution A G intron_variant ESAD-UK 7 156437064 156437064 single base substitution A G upstream_gene_variant ESAD-UK 7 156438690 156438690 single base substitution C G downstream_gene_variant ESAD-UK 7 156438690 156438690 single base substitution C G intron_variant ESAD-UK 7 156445641 156445641 single base substitution A T intron_variant ESAD-UK 7 156445641 156445641 single base substitution A T upstream_gene_variant ESAD-UK 7 156445907 156445907 single base substitution G C intron_variant ESAD-UK 7 156445907 156445907 single base substitution G C upstream_gene_variant ESAD-UK 7 156446075 156446075 single base substitution G A intron_variant ESAD-UK 7 156446075 156446075 single base substitution G A upstream_gene_variant ESAD-UK 7 156447976 156447976 insertion of <=200bp - AT downstream_gene_variant ESAD-UK 7 156447976 156447976 insertion of <=200bp - AT intron_variant ESAD-UK 7 156447976 156447976 insertion of <=200bp - AT upstream_gene_variant ESAD-UK 7 156450141 156450141 single base substitution C T downstream_gene_variant ESAD-UK 7 156450141 156450141 single base substitution C T intron_variant ESAD-UK 7 156450141 156450141 single base substitution C T upstream_gene_variant ESAD-UK 7 156450583 156450583 single base substitution G A downstream_gene_variant ESAD-UK 7 156450583 156450583 single base substitution G A intron_variant ESAD-UK 7 156451112 156451112 single base substitution T C downstream_gene_variant ESAD-UK 7 156451112 156451112 single base substitution T C intron_variant ESAD-UK 7 156452814 156452814 single base substitution G A 3_prime_UTR_variant ESAD-UK 7 156452814 156452814 single base substitution G A downstream_gene_variant ESAD-UK 7 156452814 156452814 single base substitution G A intron_variant ESAD-UK 7 156454931 156454931 deletion of <=200bp T - downstream_gene_variant ESAD-UK 7 156454931 156454931 deletion of <=200bp T - intron_variant ESAD-UK 7 156455977 156455977 single base substitution G C downstream_gene_variant ESAD-UK 7 156455977 156455977 single base substitution G C intron_variant ESAD-UK 7 156458328 156458328 single base substitution G A intron_variant ESAD-UK 7 156460425 156460427 deletion of <=200bp ACT - intron_variant ESAD-UK 7 156463566 156463566 single base substitution C T intron_variant ESAD-UK 7 156464543 156464543 single base substitution A T intron_variant ESAD-UK 7 156466398 156466398 single base substitution C T intron_variant ESAD-UK 7 156467240 156467240 single base substitution C T intron_variant ESAD-UK 7 156467361 156467361 single base substitution C T intron_variant ESAD-UK 7 156469109 156469109 single base substitution G A 3_prime_UTR_variant ESAD-UK 7 156469109 156469109 single base substitution G A intron_variant ESAD-UK 7 156469878 156469878 deletion of <=200bp A - downstream_gene_variant ESAD-UK 7 156471146 156471146 single base substitution C T downstream_gene_variant ESAD-UK 7 156471772 156471772 single base substitution T G downstream_gene_variant ESAD-UK 7 156472567 156472567 single base substitution T A downstream_gene_variant ESAD-UK 7 156473970 156473970 single base substitution G A downstream_gene_variant GBM-US 7 156451221 156451221 single base substitution C G 3_prime_UTR_variant GBM-US 7 156451221 156451221 single base substitution C G downstream_gene_variant GBM-US 7 156451221 156451221 single base substitution C G exon_variant GBM-US 7 156451221 156451221 single base substitution C G missense_variant P190R 569C>G GBM-US 7 156451221 156451221 single base substitution C G missense_variant P214R 641C>G KIRC-US 7 156432294 156432294 single base substitution G T upstream_gene_variant KIRC-US 7 156432295 156432295 single base substitution A T upstream_gene_variant KIRC-US 7 156450264 156450264 single base substitution C T 3_prime_UTR_variant KIRC-US 7 156450264 156450264 single base substitution C T downstream_gene_variant KIRC-US 7 156450264 156450264 single base substitution C T exon_variant KIRC-US 7 156450264 156450264 single base substitution C T intron_variant KIRC-US 7 156450264 156450264 single base substitution C T synonymous_variant H149H 447C>T LAML-KR 7 156455560 156455560 single base substitution G T downstream_gene_variant LAML-KR 7 156455560 156455560 single base substitution G T intron_variant LAML-KR 7 156468378 156468378 single base substitution C A intron_variant LAML-KR 7 156473101 156473101 single base substitution T A downstream_gene_variant LGG-US 7 156437272 156437272 single base substitution G A downstream_gene_variant LGG-US 7 156437272 156437272 single base substitution G A exon_variant LGG-US 7 156437272 156437272 single base substitution G A missense_variant R32Q 95G>A LGG-US 7 156437272 156437272 single base substitution G A upstream_gene_variant LGG-US 7 156447399 156447399 single base substitution A G 3_prime_UTR_variant LGG-US 7 156447399 156447399 single base substitution A G exon_variant LGG-US 7 156447399 156447399 single base substitution A G intron_variant LGG-US 7 156447399 156447399 single base substitution A G missense_variant E135G 404A>G LGG-US 7 156447399 156447399 single base substitution A G upstream_gene_variant LICA-FR 7 156428553 156428553 deletion of <=200bp A - upstream_gene_variant LICA-FR 7 156430338 156430338 single base substitution A C upstream_gene_variant LICA-FR 7 156453409 156453409 single base substitution A G downstream_gene_variant LICA-FR 7 156453409 156453409 single base substitution A G intron_variant LICA-FR 7 156465946 156465946 single base substitution T C intron_variant LICA-FR 7 156469153 156469153 single base substitution C A 3_prime_UTR_variant LICA-FR 7 156469153 156469153 single base substitution C A missense_variant A274D 821C>A LICA-FR 7 156469153 156469153 single base substitution C A missense_variant A298D 893C>A LICA-FR 7 156473101 156473101 single base substitution T A downstream_gene_variant LINC-JP 7 156437237 156437237 insertion of <=200bp - T downstream_gene_variant LINC-JP 7 156437237 156437237 insertion of <=200bp - T exon_variant LINC-JP 7 156437237 156437237 insertion of <=200bp - T frameshift_variant A20A? LINC-JP 7 156437237 156437237 insertion of <=200bp - T upstream_gene_variant LINC-JP 7 156447958 156447958 single base substitution G C downstream_gene_variant LINC-JP 7 156447958 156447958 single base substitution G C intron_variant LINC-JP 7 156447958 156447958 single base substitution G C upstream_gene_variant LINC-JP 7 156454427 156454427 single base substitution T C downstream_gene_variant LINC-JP 7 156454427 156454427 single base substitution T C intron_variant LINC-JP 7 156463885 156463885 single base substitution A T intron_variant LINC-JP 7 156468931 156468931 single base substitution A G intron_variant LINC-JP 7 156471484 156471484 single base substitution C T downstream_gene_variant LINC-JP 7 156474477 156474477 single base substitution G C downstream_gene_variant LIRI-JP 7 156429003 156429003 single base substitution C A upstream_gene_variant LIRI-JP 7 156429119 156429119 single base substitution T C upstream_gene_variant LIRI-JP 7 156433105 156433105 single base substitution G T intron_variant LIRI-JP 7 156433105 156433105 single base substitution G T upstream_gene_variant LIRI-JP 7 156434110 156434110 single base substitution A C intron_variant LIRI-JP 7 156434110 156434110 single base substitution A C upstream_gene_variant LIRI-JP 7 156434536 156434536 single base substitution G A intron_variant LIRI-JP 7 156434536 156434536 single base substitution G A upstream_gene_variant LIRI-JP 7 156435091 156435091 single base substitution C T intron_variant LIRI-JP 7 156435091 156435091 single base substitution C T upstream_gene_variant LIRI-JP 7 156438216 156438216 single base substitution G T downstream_gene_variant LIRI-JP 7 156438216 156438216 single base substitution G T intron_variant LIRI-JP 7 156440505 156440505 single base substitution C T downstream_gene_variant LIRI-JP 7 156440505 156440505 single base substitution C T intron_variant LIRI-JP 7 156447433 156447433 single base substitution A C exon_variant LIRI-JP 7 156447433 156447433 single base substitution A C intron_variant LIRI-JP 7 156447433 156447433 single base substitution A C splice_region_variant LIRI-JP 7 156447433 156447433 single base substitution A C upstream_gene_variant LIRI-JP 7 156447841 156447841 single base substitution A G downstream_gene_variant LIRI-JP 7 156447841 156447841 single base substitution A G intron_variant LIRI-JP 7 156447841 156447841 single base substitution A G upstream_gene_variant LIRI-JP 7 156453366 156453366 single base substitution C T downstream_gene_variant LIRI-JP 7 156453366 156453366 single base substitution C T intron_variant LIRI-JP 7 156455507 156455507 single base substitution C A downstream_gene_variant LIRI-JP 7 156455507 156455507 single base substitution C A intron_variant LIRI-JP 7 156459244 156459244 single base substitution T A intron_variant LIRI-JP 7 156461530 156461530 single base substitution T C intron_variant LIRI-JP 7 156461908 156461908 single base substitution C A intron_variant LIRI-JP 7 156463952 156463996 deletion of <=200bp GGACTGAGTGCTCCAGCACCAATCAGATTATGTATGTGTTACTCA - intron_variant LIRI-JP 7 156466721 156466726 deletion of <=200bp ATCTCC - intron_variant LIRI-JP 7 156469189 156469189 single base substitution C T 3_prime_UTR_variant LIRI-JP 7 156469189 156469189 single base substitution C T missense_variant A286V 857C>T LIRI-JP 7 156469189 156469189 single base substitution C T missense_variant A310V 929C>T LUSC-KR 7 156430983 156430983 single base substitution T C upstream_gene_variant LUSC-KR 7 156431052 156431052 single base substitution C A upstream_gene_variant LUSC-KR 7 156431554 156431554 single base substitution T C upstream_gene_variant LUSC-KR 7 156431731 156431731 single base substitution C T upstream_gene_variant LUSC-KR 7 156432955 156432955 single base substitution G A upstream_gene_variant LUSC-KR 7 156433497 156433497 single base substitution G A 5_prime_UTR_variant LUSC-KR 7 156433497 156433497 single base substitution G A exon_variant LUSC-KR 7 156433497 156433497 single base substitution G A intron_variant LUSC-KR 7 156433497 156433497 single base substitution G A upstream_gene_variant LUSC-KR 7 156433759 156433759 single base substitution G C intron_variant LUSC-KR 7 156433759 156433759 single base substitution G C upstream_gene_variant LUSC-KR 7 156436452 156436452 single base substitution T G intron_variant LUSC-KR 7 156436452 156436452 single base substitution T G upstream_gene_variant LUSC-KR 7 156437267 156437267 single base substitution A T downstream_gene_variant LUSC-KR 7 156437267 156437267 single base substitution A T exon_variant LUSC-KR 7 156437267 156437267 single base substitution A T missense_variant Q30H 90A>T LUSC-KR 7 156437267 156437267 single base substitution A T upstream_gene_variant LUSC-KR 7 156440082 156440082 single base substitution A G downstream_gene_variant LUSC-KR 7 156440082 156440082 single base substitution A G intron_variant LUSC-KR 7 156447492 156447492 single base substitution C T exon_variant LUSC-KR 7 156447492 156447492 single base substitution C T intron_variant LUSC-KR 7 156447492 156447492 single base substitution C T upstream_gene_variant LUSC-KR 7 156452091 156452091 single base substitution G T 3_prime_UTR_variant LUSC-KR 7 156452091 156452091 single base substitution G T downstream_gene_variant LUSC-KR 7 156452091 156452091 single base substitution G T intron_variant LUSC-KR 7 156452439 156452439 single base substitution A G 3_prime_UTR_variant LUSC-KR 7 156452439 156452439 single base substitution A G downstream_gene_variant LUSC-KR 7 156452439 156452439 single base substitution A G intron_variant LUSC-KR 7 156453422 156453422 single base substitution T C downstream_gene_variant LUSC-KR 7 156453422 156453422 single base substitution T C intron_variant LUSC-KR 7 156455560 156455560 single base substitution G T downstream_gene_variant LUSC-KR 7 156455560 156455560 single base substitution G T intron_variant LUSC-KR 7 156456129 156456129 single base substitution G T downstream_gene_variant LUSC-KR 7 156456129 156456129 single base substitution G T intron_variant LUSC-KR 7 156458751 156458751 single base substitution C G intron_variant LUSC-KR 7 156463308 156463308 single base substitution A G intron_variant LUSC-KR 7 156468377 156468377 single base substitution G C intron_variant LUSC-KR 7 156468559 156468559 single base substitution T C splice_donor_variant LUSC-KR 7 156469454 156469454 single base substitution C T 3_prime_UTR_variant LUSC-KR 7 156473099 156473099 single base substitution T A downstream_gene_variant LUSC-KR 7 156473101 156473101 single base substitution T A downstream_gene_variant LUSC-KR 7 156473225 156473225 single base substitution C G downstream_gene_variant LUSC-KR 7 156474337 156474337 single base substitution G C downstream_gene_variant LUSC-US 7 156469341 156469341 single base substitution G C 3_prime_UTR_variant LUSC-US 7 156469341 156469341 single base substitution G C missense_variant E337Q 1009G>C LUSC-US 7 156469341 156469341 single base substitution G C missense_variant E361Q 1081G>C MALY-DE 7 156429957 156429984 deletion of <=200bp AAATAAATAAATAAATAAATAAATAAAT - upstream_gene_variant MALY-DE 7 156434709 156434709 single base substitution A G intron_variant MALY-DE 7 156434709 156434709 single base substitution A G upstream_gene_variant MALY-DE 7 156447989 156447989 single base substitution G T downstream_gene_variant MALY-DE 7 156447989 156447989 single base substitution G T intron_variant MALY-DE 7 156447989 156447989 single base substitution G T upstream_gene_variant MALY-DE 7 156447991 156447991 single base substitution G T downstream_gene_variant MALY-DE 7 156447991 156447991 single base substitution G T intron_variant MALY-DE 7 156447991 156447991 single base substitution G T upstream_gene_variant MALY-DE 7 156450539 156450539 single base substitution G A downstream_gene_variant MALY-DE 7 156450539 156450539 single base substitution G A intron_variant MALY-DE 7 156452134 156452134 single base substitution G A 3_prime_UTR_variant MALY-DE 7 156452134 156452134 single base substitution G A downstream_gene_variant MALY-DE 7 156452134 156452134 single base substitution G A intron_variant MALY-DE 7 156467889 156467889 single base substitution G C intron_variant MELA-AU 7 156428215 156428215 single base substitution G A upstream_gene_variant MELA-AU 7 156428734 156428734 single base substitution G A upstream_gene_variant MELA-AU 7 156429279 156429279 single base substitution A T upstream_gene_variant MELA-AU 7 156429354 156429354 single base substitution G A upstream_gene_variant MELA-AU 7 156429400 156429400 single base substitution A T upstream_gene_variant MELA-AU 7 156429425 156429425 single base substitution C T upstream_gene_variant MELA-AU 7 156429687 156429687 single base substitution G A upstream_gene_variant MELA-AU 7 156429957 156429957 insertion of <=200bp - AAAT upstream_gene_variant MELA-AU 7 156430231 156430231 single base substitution A G upstream_gene_variant MELA-AU 7 156431121 156431121 single base substitution T G upstream_gene_variant MELA-AU 7 156431443 156431443 single base substitution A G upstream_gene_variant MELA-AU 7 156431860 156431860 single base substitution G A upstream_gene_variant MELA-AU 7 156432235 156432235 single base substitution T C upstream_gene_variant MELA-AU 7 156432404 156432404 single base substitution G T upstream_gene_variant MELA-AU 7 156432434 156432434 single base substitution C T upstream_gene_variant MELA-AU 7 156432527 156432527 single base substitution G A upstream_gene_variant MELA-AU 7 156432532 156432532 single base substitution A C upstream_gene_variant MELA-AU 7 156432650 156432650 single base substitution G A upstream_gene_variant MELA-AU 7 156432761 156432761 single base substitution G A upstream_gene_variant MELA-AU 7 156432770 156432770 single base substitution C T upstream_gene_variant MELA-AU 7 156433448 156433448 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 7 156433448 156433448 single base substitution T C exon_variant MELA-AU 7 156433448 156433448 single base substitution T C intron_variant MELA-AU 7 156433448 156433448 single base substitution T C upstream_gene_variant MELA-AU 7 156433695 156433695 single base substitution C T 5_prime_UTR_variant MELA-AU 7 156433695 156433695 single base substitution C T intron_variant MELA-AU 7 156433695 156433695 single base substitution C T upstream_gene_variant MELA-AU 7 156434705 156434705 single base substitution T A intron_variant MELA-AU 7 156434705 156434705 single base substitution T A upstream_gene_variant MELA-AU 7 156435116 156435116 single base substitution G A intron_variant MELA-AU 7 156435116 156435116 single base substitution G A upstream_gene_variant MELA-AU 7 156435584 156435584 single base substitution G A intron_variant MELA-AU 7 156435584 156435584 single base substitution G A upstream_gene_variant MELA-AU 7 156435837 156435837 single base substitution C T intron_variant MELA-AU 7 156435837 156435837 single base substitution C T upstream_gene_variant MELA-AU 7 156436044 156436044 single base substitution C T intron_variant MELA-AU 7 156436044 156436044 single base substitution C T upstream_gene_variant MELA-AU 7 156436055 156436055 single base substitution C A intron_variant MELA-AU 7 156436055 156436055 single base substitution C A upstream_gene_variant MELA-AU 7 156436128 156436128 single base substitution C T intron_variant MELA-AU 7 156436128 156436128 single base substitution C T upstream_gene_variant MELA-AU 7 156436337 156436337 single base substitution C T intron_variant MELA-AU 7 156436337 156436337 single base substitution C T upstream_gene_variant MELA-AU 7 156436520 156436520 single base substitution G A 5_prime_UTR_variant MELA-AU 7 156436520 156436520 single base substitution G A exon_variant MELA-AU 7 156436520 156436520 single base substitution G A upstream_gene_variant MELA-AU 7 156437601 156437601 single base substitution T G downstream_gene_variant MELA-AU 7 156437601 156437601 single base substitution T G intron_variant MELA-AU 7 156437841 156437841 single base substitution G A downstream_gene_variant MELA-AU 7 156437841 156437841 single base substitution G A intron_variant MELA-AU 7 156437996 156437997 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 156437996 156437997 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 156438736 156438736 single base substitution G A downstream_gene_variant MELA-AU 7 156438736 156438736 single base substitution G A intron_variant MELA-AU 7 156439238 156439238 single base substitution A G 3_prime_UTR_variant MELA-AU 7 156439238 156439238 single base substitution A G downstream_gene_variant MELA-AU 7 156439238 156439238 single base substitution A G intron_variant MELA-AU 7 156440041 156440041 single base substitution T A downstream_gene_variant MELA-AU 7 156440041 156440041 single base substitution T A intron_variant MELA-AU 7 156440357 156440357 single base substitution C T downstream_gene_variant MELA-AU 7 156440357 156440357 single base substitution C T intron_variant MELA-AU 7 156440460 156440461 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 156440460 156440461 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 156440616 156440616 single base substitution C T downstream_gene_variant MELA-AU 7 156440616 156440616 single base substitution C T intron_variant MELA-AU 7 156441387 156441387 single base substitution C T downstream_gene_variant MELA-AU 7 156441387 156441387 single base substitution C T intron_variant MELA-AU 7 156441514 156441514 single base substitution G A downstream_gene_variant MELA-AU 7 156441514 156441514 single base substitution G A intron_variant MELA-AU 7 156441638 156441638 single base substitution C T downstream_gene_variant MELA-AU 7 156441638 156441638 single base substitution C T intron_variant MELA-AU 7 156441773 156441773 single base substitution C T downstream_gene_variant MELA-AU 7 156441773 156441773 single base substitution C T intron_variant MELA-AU 7 156441834 156441834 single base substitution G A downstream_gene_variant MELA-AU 7 156441834 156441834 single base substitution G A intron_variant MELA-AU 7 156442345 156442345 single base substitution C T downstream_gene_variant MELA-AU 7 156442345 156442345 single base substitution C T intron_variant MELA-AU 7 156442345 156442345 single base substitution C T upstream_gene_variant MELA-AU 7 156442440 156442440 single base substitution C T downstream_gene_variant MELA-AU 7 156442440 156442440 single base substitution C T intron_variant MELA-AU 7 156442440 156442440 single base substitution C T upstream_gene_variant MELA-AU 7 156443120 156443120 single base substitution C T downstream_gene_variant MELA-AU 7 156443120 156443120 single base substitution C T intron_variant MELA-AU 7 156443120 156443120 single base substitution C T upstream_gene_variant MELA-AU 7 156443266 156443266 single base substitution C T downstream_gene_variant MELA-AU 7 156443266 156443266 single base substitution C T intron_variant MELA-AU 7 156443266 156443266 single base substitution C T upstream_gene_variant MELA-AU 7 156443393 156443393 single base substitution C A downstream_gene_variant MELA-AU 7 156443393 156443393 single base substitution C A intron_variant MELA-AU 7 156443393 156443393 single base substitution C A upstream_gene_variant MELA-AU 7 156443443 156443443 single base substitution C T downstream_gene_variant MELA-AU 7 156443443 156443443 single base substitution C T intron_variant MELA-AU 7 156443443 156443443 single base substitution C T upstream_gene_variant MELA-AU 7 156443504 156443504 single base substitution G A downstream_gene_variant MELA-AU 7 156443504 156443504 single base substitution G A intron_variant MELA-AU 7 156443504 156443504 single base substitution G A upstream_gene_variant MELA-AU 7 156443601 156443601 single base substitution A G downstream_gene_variant MELA-AU 7 156443601 156443601 single base substitution A G intron_variant MELA-AU 7 156443601 156443601 single base substitution A G upstream_gene_variant MELA-AU 7 156443826 156443826 single base substitution C T downstream_gene_variant MELA-AU 7 156443826 156443826 single base substitution C T intron_variant MELA-AU 7 156443826 156443826 single base substitution C T upstream_gene_variant MELA-AU 7 156443944 156443944 single base substitution G A downstream_gene_variant MELA-AU 7 156443944 156443944 single base substitution G A intron_variant MELA-AU 7 156443944 156443944 single base substitution G A upstream_gene_variant MELA-AU 7 156444583 156444583 single base substitution G A intron_variant MELA-AU 7 156444583 156444583 single base substitution G A upstream_gene_variant MELA-AU 7 156444603 156444603 single base substitution C T intron_variant MELA-AU 7 156444603 156444603 single base substitution C T upstream_gene_variant MELA-AU 7 156444620 156444620 single base substitution G A intron_variant MELA-AU 7 156444620 156444620 single base substitution G A upstream_gene_variant MELA-AU 7 156444680 156444680 single base substitution G A intron_variant MELA-AU 7 156444680 156444680 single base substitution G A upstream_gene_variant MELA-AU 7 156444972 156444972 single base substitution C T intron_variant MELA-AU 7 156444972 156444972 single base substitution C T upstream_gene_variant MELA-AU 7 156445257 156445257 single base substitution A G intron_variant MELA-AU 7 156445257 156445257 single base substitution A G upstream_gene_variant MELA-AU 7 156445682 156445682 single base substitution T A intron_variant MELA-AU 7 156445682 156445682 single base substitution T A upstream_gene_variant MELA-AU 7 156446173 156446173 single base substitution C T intron_variant MELA-AU 7 156446173 156446173 single base substitution C T upstream_gene_variant MELA-AU 7 156446334 156446334 single base substitution G A intron_variant MELA-AU 7 156446334 156446334 single base substitution G A upstream_gene_variant MELA-AU 7 156447372 156447372 single base substitution C T 3_prime_UTR_variant MELA-AU 7 156447372 156447372 single base substitution C T exon_variant MELA-AU 7 156447372 156447372 single base substitution C T intron_variant MELA-AU 7 156447372 156447372 single base substitution C T missense_variant P126L 377C>T MELA-AU 7 156447372 156447372 single base substitution C T upstream_gene_variant MELA-AU 7 156447389 156447389 single base substitution G A 3_prime_UTR_variant MELA-AU 7 156447389 156447389 single base substitution G A exon_variant MELA-AU 7 156447389 156447389 single base substitution G A intron_variant MELA-AU 7 156447389 156447389 single base substitution G A missense_variant E132K 394G>A MELA-AU 7 156447389 156447389 single base substitution G A upstream_gene_variant MELA-AU 7 156447529 156447529 single base substitution G A exon_variant MELA-AU 7 156447529 156447529 single base substitution G A intron_variant MELA-AU 7 156447529 156447529 single base substitution G A upstream_gene_variant MELA-AU 7 156447958 156447958 single base substitution G C downstream_gene_variant MELA-AU 7 156447958 156447958 single base substitution G C intron_variant MELA-AU 7 156447958 156447958 single base substitution G C upstream_gene_variant MELA-AU 7 156447997 156447997 single base substitution G A downstream_gene_variant MELA-AU 7 156447997 156447997 single base substitution G A intron_variant MELA-AU 7 156447997 156447997 single base substitution G A upstream_gene_variant MELA-AU 7 156448570 156448570 single base substitution A G downstream_gene_variant MELA-AU 7 156448570 156448570 single base substitution A G intron_variant MELA-AU 7 156448570 156448570 single base substitution A G upstream_gene_variant MELA-AU 7 156448927 156448927 single base substitution G A downstream_gene_variant MELA-AU 7 156448927 156448927 single base substitution G A intron_variant MELA-AU 7 156448927 156448927 single base substitution G A upstream_gene_variant MELA-AU 7 156449077 156449077 single base substitution C T downstream_gene_variant MELA-AU 7 156449077 156449077 single base substitution C T intron_variant MELA-AU 7 156449077 156449077 single base substitution C T upstream_gene_variant MELA-AU 7 156449083 156449083 single base substitution G A downstream_gene_variant MELA-AU 7 156449083 156449083 single base substitution G A intron_variant MELA-AU 7 156449083 156449083 single base substitution G A upstream_gene_variant MELA-AU 7 156449812 156449812 single base substitution G A downstream_gene_variant MELA-AU 7 156449812 156449812 single base substitution G A intron_variant MELA-AU 7 156449812 156449812 single base substitution G A upstream_gene_variant MELA-AU 7 156450114 156450114 single base substitution T A downstream_gene_variant MELA-AU 7 156450114 156450114 single base substitution T A intron_variant MELA-AU 7 156450114 156450114 single base substitution T A upstream_gene_variant MELA-AU 7 156450325 156450325 single base substitution G A downstream_gene_variant MELA-AU 7 156450325 156450325 single base substitution G A intron_variant MELA-AU 7 156450437 156450437 single base substitution G A downstream_gene_variant MELA-AU 7 156450437 156450437 single base substitution G A intron_variant MELA-AU 7 156450639 156450639 single base substitution G A downstream_gene_variant MELA-AU 7 156450639 156450639 single base substitution G A intron_variant MELA-AU 7 156450892 156450892 single base substitution A G 3_prime_UTR_variant MELA-AU 7 156450892 156450892 single base substitution A G downstream_gene_variant MELA-AU 7 156450892 156450892 single base substitution A G exon_variant MELA-AU 7 156450892 156450892 single base substitution A G missense_variant Q150R 449A>G MELA-AU 7 156450892 156450892 single base substitution A G missense_variant Q174R 521A>G MELA-AU 7 156451118 156451118 single base substitution C T downstream_gene_variant MELA-AU 7 156451118 156451118 single base substitution C T intron_variant MELA-AU 7 156451666 156451666 single base substitution A G 3_prime_UTR_variant MELA-AU 7 156451666 156451666 single base substitution A G downstream_gene_variant MELA-AU 7 156451666 156451666 single base substitution A G exon_variant MELA-AU 7 156451666 156451666 single base substitution A G intron_variant MELA-AU 7 156451827 156451827 single base substitution G A 3_prime_UTR_variant MELA-AU 7 156451827 156451827 single base substitution G A downstream_gene_variant MELA-AU 7 156451827 156451827 single base substitution G A intron_variant MELA-AU 7 156452115 156452115 single base substitution G A 3_prime_UTR_variant MELA-AU 7 156452115 156452115 single base substitution G A downstream_gene_variant MELA-AU 7 156452115 156452115 single base substitution G A intron_variant MELA-AU 7 156452257 156452257 single base substitution G A 3_prime_UTR_variant MELA-AU 7 156452257 156452257 single base substitution G A downstream_gene_variant MELA-AU 7 156452257 156452257 single base substitution G A intron_variant MELA-AU 7 156452430 156452430 single base substitution T C 3_prime_UTR_variant MELA-AU 7 156452430 156452430 single base substitution T C downstream_gene_variant MELA-AU 7 156452430 156452430 single base substitution T C intron_variant MELA-AU 7 156452850 156452850 single base substitution G A 3_prime_UTR_variant MELA-AU 7 156452850 156452850 single base substitution G A downstream_gene_variant MELA-AU 7 156452850 156452850 single base substitution G A intron_variant MELA-AU 7 156453025 156453025 single base substitution G A 3_prime_UTR_variant MELA-AU 7 156453025 156453025 single base substitution G A downstream_gene_variant MELA-AU 7 156453025 156453025 single base substitution G A intron_variant MELA-AU 7 156453910 156453911 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 156453910 156453911 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 156453969 156453969 single base substitution G A downstream_gene_variant MELA-AU 7 156453969 156453969 single base substitution G A intron_variant MELA-AU 7 156454021 156454021 single base substitution T A downstream_gene_variant MELA-AU 7 156454021 156454021 single base substitution T A intron_variant MELA-AU 7 156454038 156454038 single base substitution G A downstream_gene_variant MELA-AU 7 156454038 156454038 single base substitution G A intron_variant MELA-AU 7 156454382 156454382 single base substitution C T downstream_gene_variant MELA-AU 7 156454382 156454382 single base substitution C T intron_variant MELA-AU 7 156454600 156454600 single base substitution G A downstream_gene_variant MELA-AU 7 156454600 156454600 single base substitution G A intron_variant MELA-AU 7 156454602 156454602 single base substitution G A downstream_gene_variant MELA-AU 7 156454602 156454602 single base substitution G A intron_variant MELA-AU 7 156455332 156455332 single base substitution G A downstream_gene_variant MELA-AU 7 156455332 156455332 single base substitution G A intron_variant MELA-AU 7 156456115 156456115 single base substitution G A downstream_gene_variant MELA-AU 7 156456115 156456115 single base substitution G A intron_variant MELA-AU 7 156456483 156456483 single base substitution G A downstream_gene_variant MELA-AU 7 156456483 156456483 single base substitution G A intron_variant MELA-AU 7 156456535 156456535 single base substitution G A downstream_gene_variant MELA-AU 7 156456535 156456535 single base substitution G A intron_variant MELA-AU 7 156456989 156456989 single base substitution C T downstream_gene_variant MELA-AU 7 156456989 156456989 single base substitution C T intron_variant MELA-AU 7 156457318 156457318 single base substitution T C downstream_gene_variant MELA-AU 7 156457318 156457318 single base substitution T C intron_variant MELA-AU 7 156457621 156457621 single base substitution A G downstream_gene_variant MELA-AU 7 156457621 156457621 single base substitution A G intron_variant MELA-AU 7 156457802 156457802 single base substitution C T downstream_gene_variant MELA-AU 7 156457802 156457802 single base substitution C T intron_variant MELA-AU 7 156458194 156458194 single base substitution G A intron_variant MELA-AU 7 156458253 156458253 single base substitution C A intron_variant MELA-AU 7 156458596 156458596 single base substitution G A intron_variant MELA-AU 7 156458876 156458876 single base substitution G A intron_variant MELA-AU 7 156458989 156458989 single base substitution C T intron_variant MELA-AU 7 156459242 156459242 single base substitution G A intron_variant MELA-AU 7 156459389 156459389 single base substitution G A intron_variant MELA-AU 7 156459616 156459616 single base substitution C T intron_variant MELA-AU 7 156459990 156459991 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 156460151 156460151 single base substitution A G intron_variant MELA-AU 7 156460340 156460340 single base substitution A G intron_variant MELA-AU 7 156460589 156460589 single base substitution G A intron_variant MELA-AU 7 156461184 156461184 single base substitution C T intron_variant MELA-AU 7 156461654 156461654 single base substitution G A intron_variant MELA-AU 7 156461798 156461798 single base substitution G A intron_variant MELA-AU 7 156461941 156461941 single base substitution G A intron_variant MELA-AU 7 156462355 156462355 single base substitution G A intron_variant MELA-AU 7 156462362 156462362 single base substitution G A intron_variant MELA-AU 7 156462400 156462400 single base substitution G A intron_variant MELA-AU 7 156462429 156462429 single base substitution G A intron_variant MELA-AU 7 156462639 156462639 single base substitution G A intron_variant MELA-AU 7 156462763 156462763 single base substitution G A intron_variant MELA-AU 7 156463061 156463061 single base substitution C T intron_variant MELA-AU 7 156463568 156463568 single base substitution G A intron_variant MELA-AU 7 156463569 156463569 single base substitution G A intron_variant MELA-AU 7 156463627 156463627 single base substitution G A intron_variant MELA-AU 7 156463699 156463699 single base substitution G A intron_variant MELA-AU 7 156463917 156463917 single base substitution G A intron_variant MELA-AU 7 156466127 156466127 single base substitution G A intron_variant MELA-AU 7 156466631 156466631 single base substitution G A intron_variant MELA-AU 7 156466931 156466931 single base substitution C T intron_variant MELA-AU 7 156467295 156467295 single base substitution G A intron_variant MELA-AU 7 156467834 156467834 single base substitution G A intron_variant MELA-AU 7 156467837 156467837 single base substitution G A intron_variant MELA-AU 7 156468114 156468114 single base substitution G A intron_variant MELA-AU 7 156468279 156468279 single base substitution G A intron_variant MELA-AU 7 156468342 156468342 single base substitution C T intron_variant MELA-AU 7 156468481 156468481 single base substitution G A 3_prime_UTR_variant MELA-AU 7 156468481 156468481 single base substitution G A missense_variant R235Q 704G>A MELA-AU 7 156468481 156468481 single base substitution G A missense_variant R259Q 776G>A MELA-AU 7 156468607 156468607 single base substitution G A intron_variant MELA-AU 7 156468693 156468693 single base substitution G A intron_variant MELA-AU 7 156468856 156468856 single base substitution G A intron_variant MELA-AU 7 156469010 156469010 single base substitution G A intron_variant MELA-AU 7 156469010 156469010 single base substitution G A missense_variant E292K 874G>A MELA-AU 7 156469366 156469366 single base substitution A G 3_prime_UTR_variant MELA-AU 7 156469372 156469372 single base substitution G A 3_prime_UTR_variant MELA-AU 7 156469879 156469879 single base substitution A G downstream_gene_variant MELA-AU 7 156470041 156470041 single base substitution G A downstream_gene_variant MELA-AU 7 156470074 156470074 single base substitution G A downstream_gene_variant MELA-AU 7 156470253 156470253 single base substitution G A downstream_gene_variant MELA-AU 7 156470623 156470623 single base substitution T A downstream_gene_variant MELA-AU 7 156470711 156470711 single base substitution G A downstream_gene_variant MELA-AU 7 156470763 156470763 single base substitution G A downstream_gene_variant MELA-AU 7 156470913 156470913 single base substitution G A downstream_gene_variant MELA-AU 7 156471180 156471180 single base substitution C T downstream_gene_variant MELA-AU 7 156471288 156471288 single base substitution G A downstream_gene_variant MELA-AU 7 156471318 156471318 single base substitution G A downstream_gene_variant MELA-AU 7 156471347 156471347 single base substitution G A downstream_gene_variant MELA-AU 7 156471405 156471405 single base substitution C T downstream_gene_variant MELA-AU 7 156471447 156471447 single base substitution A C downstream_gene_variant MELA-AU 7 156471606 156471606 single base substitution G A downstream_gene_variant MELA-AU 7 156472141 156472141 single base substitution G T downstream_gene_variant MELA-AU 7 156472294 156472294 single base substitution G A downstream_gene_variant MELA-AU 7 156472403 156472403 single base substitution G A downstream_gene_variant MELA-AU 7 156472996 156472996 single base substitution G A downstream_gene_variant MELA-AU 7 156473097 156473097 single base substitution A T downstream_gene_variant MELA-AU 7 156473101 156473101 single base substitution T A downstream_gene_variant MELA-AU 7 156473277 156473277 single base substitution G A downstream_gene_variant MELA-AU 7 156473390 156473390 single base substitution C A downstream_gene_variant MELA-AU 7 156473648 156473648 single base substitution C G downstream_gene_variant MELA-AU 7 156473912 156473912 single base substitution G A downstream_gene_variant MELA-AU 7 156474085 156474085 single base substitution T C downstream_gene_variant MELA-AU 7 156474464 156474464 single base substitution C T downstream_gene_variant MELA-AU 7 156474584 156474584 single base substitution G A downstream_gene_variant ORCA-IN 7 156438295 156438295 single base substitution C G downstream_gene_variant ORCA-IN 7 156438295 156438295 single base substitution C G intron_variant ORCA-IN 7 156465211 156465211 single base substitution C T intron_variant ORCA-IN 7 156469305 156469305 single base substitution C A 3_prime_UTR_variant ORCA-IN 7 156469305 156469305 single base substitution C A missense_variant P325T 973C>A ORCA-IN 7 156469305 156469305 single base substitution C A missense_variant P349T 1045C>A ORCA-IN 7 156473058 156473058 single base substitution G T downstream_gene_variant OV-AU 7 156432768 156432768 single base substitution G A upstream_gene_variant OV-AU 7 156434038 156434038 single base substitution G A intron_variant OV-AU 7 156434038 156434038 single base substitution G A upstream_gene_variant OV-AU 7 156435638 156435638 single base substitution A C intron_variant OV-AU 7 156435638 156435638 single base substitution A C upstream_gene_variant OV-AU 7 156439038 156439038 single base substitution G A downstream_gene_variant OV-AU 7 156439038 156439038 single base substitution G A intron_variant OV-AU 7 156440113 156440113 single base substitution G C downstream_gene_variant OV-AU 7 156440113 156440113 single base substitution G C intron_variant OV-AU 7 156441024 156441024 single base substitution C T downstream_gene_variant OV-AU 7 156441024 156441024 single base substitution C T intron_variant OV-AU 7 156444128 156444128 single base substitution G A downstream_gene_variant OV-AU 7 156444128 156444128 single base substitution G A intron_variant OV-AU 7 156444128 156444128 single base substitution G A upstream_gene_variant OV-AU 7 156446243 156446243 single base substitution G A intron_variant OV-AU 7 156446243 156446243 single base substitution G A upstream_gene_variant OV-AU 7 156453231 156453231 single base substitution C T downstream_gene_variant OV-AU 7 156453231 156453231 single base substitution C T intron_variant OV-AU 7 156455234 156455234 single base substitution G T downstream_gene_variant OV-AU 7 156455234 156455234 single base substitution G T intron_variant OV-AU 7 156456701 156456701 single base substitution T G downstream_gene_variant OV-AU 7 156456701 156456701 single base substitution T G intron_variant OV-AU 7 156459615 156459615 single base substitution C A intron_variant OV-AU 7 156461407 156461407 single base substitution G T intron_variant OV-AU 7 156463221 156463221 single base substitution G A intron_variant OV-AU 7 156464988 156464988 single base substitution C T intron_variant OV-AU 7 156466611 156466611 single base substitution A G intron_variant OV-AU 7 156474142 156474142 single base substitution C T downstream_gene_variant OV-AU 7 156474447 156474447 single base substitution C T downstream_gene_variant PACA-AU 7 156428279 156428279 single base substitution C T upstream_gene_variant PACA-AU 7 156429272 156429272 single base substitution G T upstream_gene_variant PACA-AU 7 156432512 156432512 single base substitution C T upstream_gene_variant PACA-AU 7 156444511 156444513 deletion of <=200bp CTC - intron_variant PACA-AU 7 156444511 156444513 deletion of <=200bp CTC - upstream_gene_variant PACA-AU 7 156445786 156445789 deletion of <=200bp CACT - intron_variant PACA-AU 7 156445786 156445789 deletion of <=200bp CACT - upstream_gene_variant PACA-AU 7 156447240 156447240 single base substitution T C intron_variant PACA-AU 7 156447240 156447240 single base substitution T C upstream_gene_variant PACA-AU 7 156463810 156463811 deletion of <=200bp AG - intron_variant PACA-AU 7 156469128 156469128 single base substitution A G 3_prime_UTR_variant PACA-AU 7 156469128 156469128 single base substitution A G missense_variant T266A 796A>G PACA-AU 7 156469128 156469128 single base substitution A G missense_variant T290A 868A>G PACA-AU 7 156469247 156469247 single base substitution G A 3_prime_UTR_variant PACA-AU 7 156469247 156469247 single base substitution G A synonymous_variant A305A 915G>A PACA-AU 7 156469247 156469247 single base substitution G A synonymous_variant A329A 987G>A PACA-AU 7 156470884 156470884 single base substitution C T downstream_gene_variant PACA-AU 7 156471770 156471770 single base substitution C T downstream_gene_variant PACA-AU 7 156473917 156473917 single base substitution C T downstream_gene_variant PACA-CA 7 156429977 156429977 single base substitution A G upstream_gene_variant PACA-CA 7 156431918 156431918 single base substitution C T upstream_gene_variant PACA-CA 7 156432526 156432526 single base substitution C T upstream_gene_variant PACA-CA 7 156433294 156433294 single base substitution A C intron_variant PACA-CA 7 156433294 156433294 single base substitution A C upstream_gene_variant PACA-CA 7 156433360 156433360 single base substitution G A intron_variant PACA-CA 7 156433360 156433360 single base substitution G A upstream_gene_variant PACA-CA 7 156435893 156435893 single base substitution C T intron_variant PACA-CA 7 156435893 156435893 single base substitution C T upstream_gene_variant PACA-CA 7 156437182 156437182 single base substitution C A intron_variant PACA-CA 7 156437182 156437182 single base substitution C A upstream_gene_variant PACA-CA 7 156439555 156439555 insertion of <=200bp - T downstream_gene_variant PACA-CA 7 156439555 156439555 insertion of <=200bp - T intron_variant PACA-CA 7 156439994 156439994 single base substitution G A downstream_gene_variant PACA-CA 7 156439994 156439994 single base substitution G A intron_variant PACA-CA 7 156443050 156443050 single base substitution G A downstream_gene_variant PACA-CA 7 156443050 156443050 single base substitution G A intron_variant PACA-CA 7 156443050 156443050 single base substitution G A upstream_gene_variant PACA-CA 7 156444599 156444599 single base substitution C A intron_variant PACA-CA 7 156444599 156444599 single base substitution C A upstream_gene_variant PACA-CA 7 156445077 156445077 single base substitution T A intron_variant PACA-CA 7 156445077 156445077 single base substitution T A upstream_gene_variant PACA-CA 7 156445094 156445094 single base substitution T C intron_variant PACA-CA 7 156445094 156445094 single base substitution T C upstream_gene_variant PACA-CA 7 156447329 156447329 single base substitution A G 3_prime_UTR_variant PACA-CA 7 156447329 156447329 single base substitution A G exon_variant PACA-CA 7 156447329 156447329 single base substitution A G missense_variant K112E 334A>G PACA-CA 7 156447329 156447329 single base substitution A G splice_region_variant PACA-CA 7 156447329 156447329 single base substitution A G upstream_gene_variant PACA-CA 7 156447975 156447975 insertion of <=200bp - AT downstream_gene_variant PACA-CA 7 156447975 156447975 insertion of <=200bp - AT intron_variant PACA-CA 7 156447975 156447975 insertion of <=200bp - AT upstream_gene_variant PACA-CA 7 156447989 156447989 single base substitution G T downstream_gene_variant PACA-CA 7 156447989 156447989 single base substitution G T intron_variant PACA-CA 7 156447989 156447989 single base substitution G T upstream_gene_variant PACA-CA 7 156447991 156447991 single base substitution G T downstream_gene_variant PACA-CA 7 156447991 156447991 single base substitution G T intron_variant PACA-CA 7 156447991 156447991 single base substitution G T upstream_gene_variant PACA-CA 7 156451502 156451502 single base substitution G A downstream_gene_variant PACA-CA 7 156451502 156451502 single base substitution G A exon_variant PACA-CA 7 156451502 156451502 single base substitution G A intron_variant PACA-CA 7 156452259 156452259 deletion of <=200bp T - 3_prime_UTR_variant PACA-CA 7 156452259 156452259 deletion of <=200bp T - downstream_gene_variant PACA-CA 7 156452259 156452259 deletion of <=200bp T - intron_variant PACA-CA 7 156454442 156454442 single base substitution G A downstream_gene_variant PACA-CA 7 156454442 156454442 single base substitution G A intron_variant PACA-CA 7 156455298 156455298 single base substitution C A downstream_gene_variant PACA-CA 7 156455298 156455298 single base substitution C A intron_variant PACA-CA 7 156463187 156463187 single base substitution G T intron_variant PACA-CA 7 156469878 156469878 deletion of <=200bp A - downstream_gene_variant PACA-CA 7 156472680 156472680 single base substitution T C downstream_gene_variant PACA-CA 7 156473097 156473097 single base substitution A T downstream_gene_variant PAEN-AU 7 156433465 156433465 single base substitution G A 5_prime_UTR_variant PAEN-AU 7 156433465 156433465 single base substitution G A exon_variant PAEN-AU 7 156433465 156433465 single base substitution G A intron_variant PAEN-AU 7 156433465 156433465 single base substitution G A upstream_gene_variant PAEN-AU 7 156445794 156445794 single base substitution C G intron_variant PAEN-AU 7 156445794 156445794 single base substitution C G upstream_gene_variant PBCA-DE 7 156444293 156444293 single base substitution C T intron_variant PBCA-DE 7 156444293 156444293 single base substitution C T upstream_gene_variant PBCA-DE 7 156447784 156447784 insertion of <=200bp - A downstream_gene_variant PBCA-DE 7 156447784 156447784 insertion of <=200bp - A intron_variant PBCA-DE 7 156447784 156447784 insertion of <=200bp - A upstream_gene_variant PBCA-DE 7 156447934 156447935 deletion of <=200bp CA - downstream_gene_variant PBCA-DE 7 156447934 156447935 deletion of <=200bp CA - intron_variant PBCA-DE 7 156447934 156447935 deletion of <=200bp CA - upstream_gene_variant PBCA-DE 7 156447987 156447987 single base substitution T G downstream_gene_variant PBCA-DE 7 156447987 156447987 single base substitution T G intron_variant PBCA-DE 7 156447987 156447987 single base substitution T G upstream_gene_variant PBCA-DE 7 156455702 156455702 single base substitution C T downstream_gene_variant PBCA-DE 7 156455702 156455702 single base substitution C T intron_variant PBCA-DE 7 156468074 156468074 single base substitution G A intron_variant PRAD-CA 7 156435886 156435886 single base substitution G A intron_variant PRAD-CA 7 156435886 156435886 single base substitution G A upstream_gene_variant PRAD-CA 7 156456352 156456352 single base substitution G A downstream_gene_variant PRAD-CA 7 156456352 156456352 single base substitution G A intron_variant PRAD-CA 7 156466613 156466613 single base substitution A G intron_variant PRAD-CA 7 156473070 156473070 single base substitution C G downstream_gene_variant PRAD-CA 7 156473099 156473099 single base substitution T A downstream_gene_variant PRAD-UK 7 156429343 156429343 single base substitution G C upstream_gene_variant PRAD-UK 7 156453452 156453452 single base substitution G A downstream_gene_variant PRAD-UK 7 156453452 156453452 single base substitution G A intron_variant PRAD-UK 7 156459845 156459845 single base substitution G C intron_variant READ-US 7 156447397 156447397 single base substitution C T 3_prime_UTR_variant READ-US 7 156447397 156447397 single base substitution C T exon_variant READ-US 7 156447397 156447397 single base substitution C T intron_variant READ-US 7 156447397 156447397 single base substitution C T synonymous_variant F134F 402C>T READ-US 7 156447397 156447397 single base substitution C T upstream_gene_variant RECA-EU 7 156435197 156435197 single base substitution C T intron_variant RECA-EU 7 156435197 156435197 single base substitution C T upstream_gene_variant RECA-EU 7 156439876 156439876 single base substitution G A downstream_gene_variant RECA-EU 7 156439876 156439876 single base substitution G A intron_variant RECA-EU 7 156441834 156441834 single base substitution G T downstream_gene_variant RECA-EU 7 156441834 156441834 single base substitution G T intron_variant RECA-EU 7 156463913 156463913 single base substitution G A intron_variant RECA-EU 7 156464933 156464933 single base substitution T C intron_variant SKCA-BR 7 156429276 156429276 single base substitution G A upstream_gene_variant SKCA-BR 7 156429354 156429354 single base substitution G A upstream_gene_variant SKCA-BR 7 156429956 156429960 deletion of <=200bp AAAAT - upstream_gene_variant SKCA-BR 7 156433173 156433173 single base substitution A C intron_variant SKCA-BR 7 156433173 156433173 single base substitution A C upstream_gene_variant SKCA-BR 7 156433463 156433463 single base substitution G A 5_prime_UTR_variant SKCA-BR 7 156433463 156433463 single base substitution G A exon_variant SKCA-BR 7 156433463 156433463 single base substitution G A intron_variant SKCA-BR 7 156433463 156433463 single base substitution G A upstream_gene_variant SKCA-BR 7 156433464 156433464 single base substitution G A 5_prime_UTR_variant SKCA-BR 7 156433464 156433464 single base substitution G A exon_variant SKCA-BR 7 156433464 156433464 single base substitution G A intron_variant SKCA-BR 7 156433464 156433464 single base substitution G A upstream_gene_variant SKCA-BR 7 156436865 156436865 single base substitution G A intron_variant SKCA-BR 7 156436865 156436865 single base substitution G A upstream_gene_variant SKCA-BR 7 156438861 156438861 single base substitution A T downstream_gene_variant SKCA-BR 7 156438861 156438861 single base substitution A T intron_variant SKCA-BR 7 156439775 156439775 single base substitution A C downstream_gene_variant SKCA-BR 7 156439775 156439775 single base substitution A C intron_variant SKCA-BR 7 156439834 156439834 single base substitution C T downstream_gene_variant SKCA-BR 7 156439834 156439834 single base substitution C T intron_variant SKCA-BR 7 156441719 156441719 single base substitution G A downstream_gene_variant SKCA-BR 7 156441719 156441719 single base substitution G A intron_variant SKCA-BR 7 156442015 156442015 single base substitution C T downstream_gene_variant SKCA-BR 7 156442015 156442015 single base substitution C T intron_variant SKCA-BR 7 156442719 156442719 insertion of <=200bp - GCT downstream_gene_variant SKCA-BR 7 156442719 156442719 insertion of <=200bp - GCT intron_variant SKCA-BR 7 156442719 156442719 insertion of <=200bp - GCT upstream_gene_variant SKCA-BR 7 156443949 156443949 single base substitution C T downstream_gene_variant SKCA-BR 7 156443949 156443949 single base substitution C T intron_variant SKCA-BR 7 156443949 156443949 single base substitution C T upstream_gene_variant SKCA-BR 7 156444178 156444178 single base substitution G A intron_variant SKCA-BR 7 156444178 156444178 single base substitution G A upstream_gene_variant SKCA-BR 7 156445431 156445431 single base substitution G A intron_variant SKCA-BR 7 156445431 156445431 single base substitution G A upstream_gene_variant SKCA-BR 7 156447462 156447462 single base substitution G A exon_variant SKCA-BR 7 156447462 156447462 single base substitution G A intron_variant SKCA-BR 7 156447462 156447462 single base substitution G A upstream_gene_variant SKCA-BR 7 156449881 156449881 single base substitution C T downstream_gene_variant SKCA-BR 7 156449881 156449881 single base substitution C T intron_variant SKCA-BR 7 156449881 156449881 single base substitution C T upstream_gene_variant SKCA-BR 7 156452228 156452228 single base substitution C T 3_prime_UTR_variant SKCA-BR 7 156452228 156452228 single base substitution C T downstream_gene_variant SKCA-BR 7 156452228 156452228 single base substitution C T intron_variant SKCA-BR 7 156453983 156453983 single base substitution G A downstream_gene_variant SKCA-BR 7 156453983 156453983 single base substitution G A intron_variant SKCA-BR 7 156454715 156454715 single base substitution A G downstream_gene_variant SKCA-BR 7 156454715 156454715 single base substitution A G intron_variant SKCA-BR 7 156455168 156455168 single base substitution G T downstream_gene_variant SKCA-BR 7 156455168 156455168 single base substitution G T intron_variant SKCA-BR 7 156456291 156456291 single base substitution A G downstream_gene_variant SKCA-BR 7 156456291 156456291 single base substitution A G intron_variant SKCA-BR 7 156456737 156456737 single base substitution A G downstream_gene_variant SKCA-BR 7 156456737 156456737 single base substitution A G intron_variant SKCA-BR 7 156460923 156460923 single base substitution C T intron_variant SKCA-BR 7 156464375 156464375 single base substitution A C intron_variant SKCA-BR 7 156464976 156464976 single base substitution G A intron_variant SKCA-BR 7 156469682 156469682 single base substitution C G 3_prime_UTR_variant SKCA-BR 7 156470258 156470258 single base substitution G A downstream_gene_variant SKCA-BR 7 156472308 156472308 single base substitution A C downstream_gene_variant SKCA-BR 7 156473070 156473070 insertion of <=200bp - CAGAGAG downstream_gene_variant SKCA-BR 7 156473097 156473097 insertion of <=200bp - AGAGTGTGTGTGTGTGT downstream_gene_variant SKCA-BR 7 156473944 156473944 single base substitution C T downstream_gene_variant SKCM-US 7 156436587 156436587 single base substitution G A splice_donor_variant SKCM-US 7 156436587 156436587 single base substitution G A upstream_gene_variant SKCM-US 7 156437203 156437203 single base substitution C T exon_variant SKCM-US 7 156437203 156437203 single base substitution C T missense_variant S9F 26C>T SKCM-US 7 156437203 156437203 single base substitution C T upstream_gene_variant SKCM-US 7 156437412 156437412 single base substitution G A downstream_gene_variant SKCM-US 7 156437412 156437412 single base substitution G A exon_variant SKCM-US 7 156437412 156437412 single base substitution G A missense_variant E79K 235G>A SKCM-US 7 156447349 156447349 single base substitution C T 3_prime_UTR_variant SKCM-US 7 156447349 156447349 single base substitution C T exon_variant SKCM-US 7 156447349 156447349 single base substitution C T intron_variant SKCM-US 7 156447349 156447349 single base substitution C T synonymous_variant L118L 354C>T SKCM-US 7 156447349 156447349 single base substitution C T upstream_gene_variant SKCM-US 7 156447389 156447389 single base substitution G A 3_prime_UTR_variant SKCM-US 7 156447389 156447389 single base substitution G A exon_variant SKCM-US 7 156447389 156447389 single base substitution G A intron_variant SKCM-US 7 156447389 156447389 single base substitution G A missense_variant E132K 394G>A SKCM-US 7 156447389 156447389 single base substitution G A upstream_gene_variant SKCM-US 7 156451211 156451211 single base substitution A C 3_prime_UTR_variant SKCM-US 7 156451211 156451211 single base substitution A C downstream_gene_variant SKCM-US 7 156451211 156451211 single base substitution A C exon_variant SKCM-US 7 156451211 156451211 single base substitution A C missense_variant K187Q 559A>C SKCM-US 7 156451211 156451211 single base substitution A C missense_variant K211Q 631A>C SKCM-US 7 156451241 156451241 single base substitution A G 3_prime_UTR_variant SKCM-US 7 156451241 156451241 single base substitution A G downstream_gene_variant SKCM-US 7 156451241 156451241 single base substitution A G exon_variant SKCM-US 7 156451241 156451241 single base substitution A G missense_variant R197G 589A>G SKCM-US 7 156451241 156451241 single base substitution A G missense_variant R221G 661A>G SKCM-US 7 156468501 156468501 single base substitution G A 3_prime_UTR_variant SKCM-US 7 156468501 156468501 single base substitution G A missense_variant E242K 724G>A SKCM-US 7 156468501 156468501 single base substitution G A missense_variant E266K 796G>A STAD-US 7 156436577 156436577 deletion of <=200bp A - exon_variant STAD-US 7 156436577 156436577 deletion of <=200bp A - frameshift_variant L2 STAD-US 7 156436577 156436577 deletion of <=200bp A - upstream_gene_variant STAD-US 7 156437236 156437236 single base substitution C T downstream_gene_variant STAD-US 7 156437236 156437236 single base substitution C T exon_variant STAD-US 7 156437236 156437236 single base substitution C T missense_variant A20V 59C>T STAD-US 7 156437236 156437236 single base substitution C T upstream_gene_variant STAD-US 7 156437272 156437272 single base substitution G A downstream_gene_variant STAD-US 7 156437272 156437272 single base substitution G A exon_variant STAD-US 7 156437272 156437272 single base substitution G A missense_variant R32Q 95G>A STAD-US 7 156437272 156437272 single base substitution G A upstream_gene_variant STAD-US 7 156437357 156437357 single base substitution A G downstream_gene_variant STAD-US 7 156437357 156437357 single base substitution A G exon_variant STAD-US 7 156437357 156437357 single base substitution A G missense_variant I60M 180A>G STAD-US 7 156451251 156451251 single base substitution T C 3_prime_UTR_variant STAD-US 7 156451251 156451251 single base substitution T C downstream_gene_variant STAD-US 7 156451251 156451251 single base substitution T C exon_variant STAD-US 7 156451251 156451251 single base substitution T C missense_variant F200S 599T>C STAD-US 7 156451251 156451251 single base substitution T C missense_variant F224S 671T>C STAD-US 7 156451257 156451257 insertion of <=200bp - A 3_prime_UTR_variant STAD-US 7 156451257 156451257 insertion of <=200bp - A downstream_gene_variant STAD-US 7 156451257 156451257 insertion of <=200bp - A exon_variant STAD-US 7 156451257 156451257 insertion of <=200bp - A frameshift_variant E202E? STAD-US 7 156451257 156451257 insertion of <=200bp - A frameshift_variant E226E? STAD-US 7 156468398 156468398 single base substitution A C 3_prime_UTR_variant STAD-US 7 156468398 156468398 single base substitution A C missense_variant E207D 621A>C STAD-US 7 156468398 156468398 single base substitution A C missense_variant E231D 693A>C STAD-US 7 156468498 156468498 single base substitution T C 3_prime_UTR_variant STAD-US 7 156468498 156468498 single base substitution T C synonymous_variant L241L 721T>C STAD-US 7 156468498 156468498 single base substitution T C synonymous_variant L265L 793T>C THCA-SA 7 156432673 156432673 single base substitution C T upstream_gene_variant THCA-SA 7 156433243 156433243 single base substitution C G intron_variant THCA-SA 7 156433243 156433243 single base substitution C G upstream_gene_variant THCA-SA 7 156469133 156469133 single base substitution C G 3_prime_UTR_variant THCA-SA 7 156469133 156469133 single base substitution C G missense_variant H267Q 801C>G THCA-SA 7 156469133 156469133 single base substitution C G missense_variant H291Q 873C>G THCA-SA 7 156469179 156469179 single base substitution C T 3_prime_UTR_variant THCA-SA 7 156469179 156469179 single base substitution C T missense_variant R283C 847C>T THCA-SA 7 156469179 156469179 single base substitution C T missense_variant R307C 919C>T THCA-SA 7 156469190 156469190 single base substitution A G 3_prime_UTR_variant THCA-SA 7 156469190 156469190 single base substitution A G synonymous_variant A286A 858A>G THCA-SA 7 156469190 156469190 single base substitution A G synonymous_variant A310A 930A>G THCA-SA 7 156469620 156469620 single base substitution T C 3_prime_UTR_variant THCA-SA 7 156474169 156474169 single base substitution T C downstream_gene_variant UCEC-US 7 156437373 156437373 single base substitution A C downstream_gene_variant UCEC-US 7 156437373 156437373 single base substitution A C exon_variant UCEC-US 7 156437373 156437373 single base substitution A C missense_variant K66Q 196A>C UCEC-US 7 156437386 156437386 single base substitution G A downstream_gene_variant UCEC-US 7 156437386 156437386 single base substitution G A exon_variant UCEC-US 7 156437386 156437386 single base substitution G A missense_variant C70Y 209G>A UCEC-US 7 156447397 156447397 single base substitution C T 3_prime_UTR_variant UCEC-US 7 156447397 156447397 single base substitution C T exon_variant UCEC-US 7 156447397 156447397 single base substitution C T intron_variant UCEC-US 7 156447397 156447397 single base substitution C T synonymous_variant F134F 402C>T UCEC-US 7 156447397 156447397 single base substitution C T upstream_gene_variant UCEC-US 7 156450917 156450917 single base substitution C A 3_prime_UTR_variant UCEC-US 7 156450917 156450917 single base substitution C A downstream_gene_variant UCEC-US 7 156450917 156450917 single base substitution C A exon_variant UCEC-US 7 156450917 156450917 single base substitution C A synonymous_variant A158A 474C>A UCEC-US 7 156450917 156450917 single base substitution C A synonymous_variant A182A 546C>A UCEC-US 7 156469039 156469039 single base substitution G A intron_variant UCEC-US 7 156469039 156469039 single base substitution G A synonymous_variant S301S 903G>A UCEC-US 7 156469254 156469254 single base substitution C T 3_prime_UTR_variant UCEC-US 7 156469254 156469254 single base substitution C T synonymous_variant L308L 922C>T UCEC-US 7 156469254 156469254 single base substitution C T synonymous_variant L332L 994C>T UCEC-US 7 156469275 156469275 single base substitution G A 3_prime_UTR_variant UCEC-US 7 156469275 156469275 single base substitution G A missense_variant V315M 943G>A UCEC-US 7 156469275 156469275 single base substitution G A missense_variant V339M 1015G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 587376 COSM1224001 c.325G>T p.E109* Substitution - Nonsense 7:156654626-156654626 + LOVO COSM3305707 c.193delA p.T67fs*7 Deletion - Frameshift 7:156644676-156644676 + T3174 COSM4722185 c.527G>A p.R176Q Substitution - Missense 7:156658204-156658204 + TCGA-DU-7294-01 COSM3928945 c.404A>G p.E135G Substitution - Missense 7:156654705-156654705 + TCGA-60-2707-01 COSM745723 c.1081G>C p.E361Q Substitution - Missense 7:156676647-156676647 + 8016470 COSM3305757 c.987G>A p.A329A Substitution - coding silent 7:156676553-156676553 + TCGA-29-1688-01 COSM1329924 c.370G>A p.V124M Substitution - Missense 7:156654671-156654671 + TCGA-BS-A0UV-01 COSM1087873 c.196A>C p.K66Q Substitution - Missense 7:156644679-156644679 + TCGA-BF-A3DM-01 COSM3923245 c.631A>C p.K211Q Substitution - Missense 7:156658517-156658517 + pfg020T COSM1643292 c.817A>C p.I273L Substitution - Missense 7:156675828-156675828 + AD44 COSM5966526 c.761G>A p.C254Y Substitution - Missense 7:156675772-156675772 + ASHPC_0025_Pa_P COSM4808084 c.334A>G p.K112E Substitution - Missense 7:156654635-156654635 + TCGA-EE-A3JI-06 COSM3636708 c.394G>A p.E132K Substitution - Missense 7:156654695-156654695 + B47 COSM1329924 c.370G>A p.V124M Substitution - Missense 7:156654671-156654671 + PTC-28C COSM3762527 c.873C>G p.H291Q Substitution - Missense 7:156676439-156676439 + SNUH_G76_S1 COSM4417971 c.863G>A p.R288Q Substitution - Missense 7:156676429-156676429 + T20 COSM5345307 c.264G>A p.P88P Substitution - coding silent 7:156644747-156644747 + TCGA-BR-8680-01 COSM3305701 c.95G>A p.R32Q Substitution - Missense 7:156644578-156644578 + BD35T COSM1087882 c.1015G>A p.V339M Substitution - Missense 7:156676581-156676581 + TARGET-30-PARRLH COSM1287669 c.405G>T p.E135D Substitution - Missense 7:156654706-156654706 + 38T COSM3715725 c.1045C>A p.P349T Substitution - Missense 7:156676611-156676611 + PDA_052 COSM5000774 c.439G>T p.V147L Substitution - Missense 7:156657562-156657562 + TCGA-AM-5820-01 COSM3762527 c.873C>G p.H291Q Substitution - Missense 7:156676439-156676439 + TCGA-A8-A09Z-01 COSM3832408 c.973G>A p.V325M Substitution - Missense 7:156676539-156676539 + TCGA-EI-6917-01 COSM1087877 c.402C>T p.F134F Substitution - coding silent 7:156654703-156654703 + T3498 COSM4722182 c.167C>T p.T56I Substitution - Missense 7:156644650-156644650 + YULONE COSM5407081 c.364G>A p.D122N Substitution - Missense 7:156654665-156654665 + S00501 COSM3305738 c.677delA p.K228fs*30 Deletion - Frameshift 7:156658563-156658563 + TCGA-D1-A17H-01 COSM1087881 c.994C>T p.L332L Substitution - coding silent 7:156676560-156676560 + EWS502 COSM4587280 c.912C>T p.G304G Substitution - coding silent 7:156676478-156676478 + CHC1035T COSM3669711 c.893C>A p.A298D Substitution - Missense 7:156676459-156676459 + CHC1035T COSM3669711 c.893C>A p.A298D Substitution - Missense 7:156676459-156676459 + ESO-0590 COSM1264398 c.685-12_685-10delCCT p.? Unknown 7:156675684-156675686 + TCGA-BF-A3DM-01 COSM3923242 c.354C>T p.L118L Substitution - coding silent 7:156654655-156654655 + 8030340 COSM3394639 c.868A>G p.T290A Substitution - Missense 7:156676434-156676434 + TCGA-DR-A0ZM-01 COSM461629 c.814G>A p.E272K Substitution - Missense 7:156675825-156675825 + TCGA-BR-6802-01 COSM3879787 c.793T>C p.L265L Substitution - coding silent 7:156675804-156675804 + B10 COSM1745069 c.306delA p.P103fs*11 Deletion - Frameshift 7:156654607-156654607 + TCGA-G4-6628-01 COSM1449647 c.704G>A p.R235H Substitution - Missense 7:156675715-156675715 + 2492700 COSM5600375 c.874G>A p.E292K Substitution - Missense 7:156676440-156676440 + TCGA-G4-6588-01 COSM3698296 c.5T>C p.L2S Substitution - Missense 7:156643882-156643882 + 2318491 COSM4776783 c.282G>C p.K94N Substitution - Missense 7:156654583-156654583 + TCGA-D3-A51E-06 COSM3636711 c.661A>G p.R221G Substitution - Missense 7:156658547-156658547 + TCGA-EE-A29M-06 COSM3636705 c.26C>T p.S9F Substitution - Missense 7:156644509-156644509 + TCGA-DK-A1AC-01 COSM1312909 c.260C>G p.P87R Substitution - Missense 7:156644743-156644743 + 587376 COSM1223999 c.94C>T p.R32* Substitution - Nonsense 7:156644577-156644577 + GB18 COSM1744284 c.281A>C p.K94T Substitution - Missense 7:156654582-156654582 + 587392 COSM1223997 c.147C>A p.N49K Substitution - Missense 7:156644630-156644630 + HN_62854 COSM121762 c.696C>T p.I232I Substitution - coding silent 7:156675707-156675707 + TCGA-B5-A0JY-01 COSM1087877 c.402C>T p.F134F Substitution - coding silent 7:156654703-156654703 + 2492702 COSM5600375 c.874G>A p.E292K Substitution - Missense 7:156676440-156676440 + TCGA-DU-5854-01 COSM3305701 c.95G>A p.R32Q Substitution - Missense 7:156644578-156644578 + 2492701 COSM5600375 c.874G>A p.E292K Substitution - Missense 7:156676440-156676440 + B47-Tumor COSM1329924 c.370G>A p.V124M Substitution - Missense 7:156654671-156654671 + pfg029T COSM1643295 c.853-1G>T p.? Unknown 7:156676418-156676418 + RK308_C01 COSM3768288 c.929C>T p.A310V Substitution - Missense 7:156676495-156676495 + TCGA-BR-8679-01 COSM3879784 c.693A>C p.E231D Substitution - Missense 7:156675704-156675704 + 2000120 COSM1644957 c.292A>T p.I98F Substitution - Missense 7:156654593-156654593 + PDA_077 COSM5002312 c.919C>T p.R307C Substitution - Missense 7:156676485-156676485 + TCGA-BP-4977-01 COSM485124 c.447C>T p.H149H Substitution - coding silent 7:156657570-156657570 + HN_62298 COSM125901 c.77T>C p.L26S Substitution - Missense 7:156644560-156644560 + C80 COSM4619871 c.757C>T p.Q253* Substitution - Nonsense 7:156675768-156675768 + CSCC-7-T COSM4559174 c.795G>A p.L265L Substitution - coding silent 7:156675806-156675806 + TCGA-C8-A12P-01 COSM452782 c.235G>C p.E79Q Substitution - Missense 7:156644718-156644718 + BN37T COSM1622635 c.59_60insT p.L21fs*8 Insertion - Frameshift 7:156644542-156644543 + TCGA-D8-A27V-01 COSM3832405 c.684+10G>C p.? Unknown 7:156658580-156658580 + TCGA-AA-3663-01 COSM1449644 c.663delA p.K223fs*35 Deletion - Frameshift 7:156658549-156658549 + TCGA-DR-A0ZM-01 COSM461631 c.799G>C p.E267Q Substitution - Missense 7:156675810-156675810 + PT35 COSM5912686 c.350C>T p.S117F Substitution - Missense 7:156654651-156654651 + TCGA-28-5220-01 COSM3411855 c.641C>G p.P214R Substitution - Missense 7:156658527-156658527 + Pat_76_B COSM5872349 c.34G>A p.D12N Substitution - Missense 7:156644517-156644517 + T2269 COSM3305701 c.95G>A p.R32Q Substitution - Missense 7:156644578-156644578 + TCGA-A6-6141-01 COSM1087877 c.402C>T p.F134F Substitution - coding silent 7:156654703-156654703 + P124 COSM1736784 c.600T>G p.C200W Substitution - Missense 7:156658486-156658486 + Au2 COSM5600375 c.874G>A p.E292K Substitution - Missense 7:156676440-156676440 + TCGA-A1-A0SI-01 COSM1488436 c.531G>A p.V177V Substitution - coding silent 7:156658208-156658208 + TCGA-AM-5820-01 COSM3762529 c.930A>G p.A310A Substitution - coding silent 7:156676496-156676496 + LUAD-RT-S01777 COSM382528 c.261G>A p.P87P Substitution - coding silent 7:156644744-156644744 + CSCC-10-T COSM4520883 c.1081G>A p.E361K Substitution - Missense 7:156676647-156676647 + Au5 COSM5606029 c.15G>A p.K5K Substitution - coding silent 7:156643892-156643892 + TCGA-EE-A20C-06 COSM3636708 c.394G>A p.E132K Substitution - Missense 7:156654695-156654695 + Pat_63_B COSM5872352 c.451G>A p.A151T Substitution - Missense 7:156658128-156658128 + TCGA-BR-8487-01 COSM3879781 c.671T>C p.F224S Substitution - Missense 7:156658557-156658557 + CHOL37 COSM1744282 c.938G>A p.R313H Substitution - Missense 7:156676504-156676504 + S02376 COSM5697265 c.78A>G p.L26L Substitution - coding silent 7:156644561-156644561 + LIM1899 COSM4640785 c.986C>T p.A329V Substitution - Missense 7:156676552-156676552 + LOVO COSM3305757 c.987G>A p.A329A Substitution - coding silent 7:156676553-156676553 + J30_T COSM3950271 c.90A>T p.Q30H Substitution - Missense 7:156644573-156644573 + TCGA-GF-A6C9-06 COSM4901629 c.796G>A p.E266K Substitution - Missense 7:156675807-156675807 + YUHOOD COSM1699639 c.931G>C p.G311R Substitution - Missense 7:156676497-156676497 + 2492703 COSM5600375 c.874G>A p.E292K Substitution - Missense 7:156676440-156676440 + TCGA-BS-A0TC-01 COSM1087879 c.546C>A p.A182A Substitution - coding silent 7:156658223-156658223 + YUAVEY COSM1699636 c.538G>A p.D180N Substitution - Missense 7:156658215-156658215 + OSCC-GB_00380111 COSM3715725 c.1045C>A p.P349T Substitution - Missense 7:156676611-156676611 + TCGA-AA-A010-01 COSM299474 c.776G>A p.R259Q Substitution - Missense 7:156675787-156675787 + TCGA-CG-5721-01 COSM3879778 c.180A>G p.I60M Substitution - Missense 7:156644663-156644663 + TCGA-D1-A174-01 COSM1087882 c.1015G>A p.V339M Substitution - Missense 7:156676581-156676581 + RMS66_ COSM4988159 c.1046C>T p.P349L Substitution - Missense 7:156676612-156676612 + TCGA-EB-A3XC-01 COSM3923239 c.235G>A p.E79K Substitution - Missense 7:156644718-156644718 + TCGA-D5-6927-01 COSM1449642 c.156delA p.R54fs*6 Deletion - Frameshift 7:156644639-156644639 + TCGA-EB-A41A-01 COSM3636702 c.15+1G>A p.? Unknown 7:156643893-156643893 + TCGA-BR-4361-01 COSM3879775 c.59C>T p.A20V Substitution - Missense 7:156644542-156644542 + SM-4JPUV COSM5952122 c.853-4G>A p.? Unknown 7:156676415-156676415 + PD8643a COSM3720405 c.604G>C p.V202L Substitution - Missense 7:156658490-156658490 + LIM2551 COSM3305738 c.677delA p.K228fs*30 Deletion - Frameshift 7:156658563-156658563 + SNUH_G76_S1 COSM4417765 c.852+2T>C p.? Unknown 7:156675865-156675865 + B66-Tumor COSM4006670 c.1088G>T p.*363L Nonstop extension 7:156676654-156676654 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.446181;Hs.446194 7q36 610241

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.417+21A>C 7 156447433 HC A C Missense p.I273L c.817A>C 7 156468522 STAD A C Missense p.K211Q c.631A>C 7 156451211 CM A G Missense p.E135G c.404A>G 7 156447399 LGG C A IntronicSNV . c.685-6482C>A 7 156461908 HC C A Synonymous p.A182A c.546C>A 7 156450917 UCEC CCT - IntronicDeletion . c.685-5_685-3delCTC 7 156468378 ESCA C G Missense p.P214R c.641C>G 7 156451221 GBM C T Missense p.S9F c.26C>T 7 156437203 CM C T Synonymous p.F224F c.672C>T 7 156451252 CM C T Synonymous p.H149H c.447C>T 7 156450264 RCCC C T Synonymous p.I232I c.696C>T 7 156468401 HNSC C T Synonymous p.L118L c.354C>T 7 156447349 CM C T Synonymous p.L167L c.501C>T 7 156450872 HNSC C T Synonymous p.L332L c.994C>T 7 156469254 UCEC G A 3-UTRSNV . c.1086+251G>A 7 156469597 CLL G A IntronicSNV . c.417+20G>A 7 156447432 CM G A Missense p.C70Y c.209G>A 7 156437386 UCEC G A Missense p.E132K c.394G>A 7 156447389 CM G A Missense p.E289K c.865G>A 7 156469125 CM G A Missense p.G305D c.914G>A 7 156469174 LUAD G A Missense p.R32Q c.95G>A 7 156437272 LGG G A Missense p.V339M c.1015G>A 7 156469275 UCEC G A Synonymous p.K358K c.1074G>A 7 156469334 CM G A Synonymous p.V177V c.531G>A 7 156450902 BRCA G C Missense p.E361Q c.1081G>C 7 156469341 LUSC G C Missense p.E79Q c.235G>C 7 156437412 BRCA G C Missense p.K10N c.30G>C 7 156437207 HNSC G T Missense p.E135D c.405G>T 7 156447400 NB G T SpliceAcceptorSNV . c.853-1G>T 7 156469112 STAD T A Missense p.W278R c.832T>A 7 156468537 LUAD T C Missense p.L26S c.77T>C 7 156437254 HNSC