---
-
allele_string: G/A/C
assembly_name: GRCh38
colocated_variants:
-
allele_string: COSMIC_MUTATION
end: 43045615
id: COSV100525147
phenotype_or_disease: 1
seq_region_name: 17
somatic: 1
start: 43045615
strand: 1
-
allele_string: G/A/C
end: 43045615
frequencies:
A:
af: '0.0002'
afr: 0
amr: '0.0014'
eas: 0
eur: 0
gnomade: '4.011e-06'
gnomade_afr: 0
gnomade_amr: '2.919e-05'
gnomade_asj: 0
gnomade_eas: 0
gnomade_fin: 0
gnomade_nfe: 0
gnomade_oth: 0
gnomade_sas: 0
gnomadg: '1.314e-05'
gnomadg_afr: 0
gnomadg_ami: 0
gnomadg_amr: '6.542e-05'
gnomadg_asj: 0
gnomadg_eas: 0
gnomadg_fin: 0
gnomadg_mid: 0
gnomadg_nfe: '1.47e-05'
gnomadg_oth: 0
gnomadg_sas: 0
sas: 0
id: rs539044217
seq_region_name: 17
start: 43045615
strand: 1
end: 43045615
id: rs539044217
input: rs539044217
most_severe_consequence: 3_prime_UTR_variant
seq_region_name: 17
start: 43045615
strand: 1
transcript_consequences:
-
biotype: protein_coding
cdna_end: 2348
cdna_start: 2348
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000352993
variant_allele: A
-
biotype: protein_coding
cdna_end: 2348
cdna_start: 2348
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000352993
variant_allele: C
-
biotype: protein_coding
cdna_end: 5768
cdna_start: 5768
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000357654
variant_allele: A
-
biotype: protein_coding
cdna_end: 5768
cdna_start: 5768
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000357654
variant_allele: C
-
biotype: nonsense_mediated_decay
consequence_terms:
- downstream_gene_variant
distance: 63
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000461221
variant_allele: A
-
biotype: nonsense_mediated_decay
consequence_terms:
- downstream_gene_variant
distance: 63
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000461221
variant_allele: C
-
biotype: protein_coding
cdna_end: 5771
cdna_start: 5771
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000461574
variant_allele: A
-
biotype: protein_coding
cdna_end: 5771
cdna_start: 5771
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000461574
variant_allele: C
-
biotype: protein_coding
cdna_end: 2463
cdna_start: 2463
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000468300
variant_allele: A
-
biotype: protein_coding
cdna_end: 2463
cdna_start: 2463
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000468300
variant_allele: C
-
biotype: protein_coding
cdna_end: 5836
cdna_start: 5836
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000470026
variant_allele: A
-
biotype: protein_coding
cdna_end: 5836
cdna_start: 5836
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000470026
variant_allele: C
-
biotype: protein_coding
cdna_end: 5950
cdna_start: 5950
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000471181
variant_allele: A
-
biotype: protein_coding
cdna_end: 5950
cdna_start: 5950
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000471181
variant_allele: C
-
biotype: protein_coding
cdna_end: 5642
cdna_start: 5642
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000473961
variant_allele: A
-
biotype: protein_coding
cdna_end: 5642
cdna_start: 5642
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000473961
variant_allele: C
-
biotype: protein_coding
cdna_end: 5758
cdna_start: 5758
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000476777
variant_allele: A
-
biotype: protein_coding
cdna_end: 5758
cdna_start: 5758
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000476777
variant_allele: C
-
biotype: protein_coding
cdna_end: 5690
cdna_start: 5690
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000477152
variant_allele: A
-
biotype: protein_coding
cdna_end: 5690
cdna_start: 5690
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000477152
variant_allele: C
-
biotype: protein_coding
cdna_end: 2445
cdna_start: 2445
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000478531
variant_allele: A
-
biotype: protein_coding
cdna_end: 2445
cdna_start: 2445
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000478531
variant_allele: C
-
biotype: protein_coding
cdna_end: 2309
cdna_start: 2309
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000484087
variant_allele: A
-
biotype: protein_coding
cdna_end: 2309
cdna_start: 2309
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000484087
variant_allele: C
-
biotype: protein_coding
cdna_end: 5736
cdna_start: 5736
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000489037
variant_allele: A
-
biotype: protein_coding
cdna_end: 5736
cdna_start: 5736
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000489037
variant_allele: C
-
biotype: protein_coding
consequence_terms:
- downstream_gene_variant
distance: 63
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000491747
variant_allele: A
-
biotype: protein_coding
consequence_terms:
- downstream_gene_variant
distance: 63
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000491747
variant_allele: C
-
biotype: protein_coding
consequence_terms:
- downstream_gene_variant
distance: 14
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000493795
variant_allele: A
-
biotype: protein_coding
consequence_terms:
- downstream_gene_variant
distance: 14
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000493795
variant_allele: C
-
biotype: protein_coding
cdna_end: 2437
cdna_start: 2437
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000493919
variant_allele: A
-
biotype: protein_coding
cdna_end: 2437
cdna_start: 2437
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000493919
variant_allele: C
-
biotype: protein_coding
cdna_end: 5848
cdna_start: 5848
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000494123
variant_allele: A
-
biotype: protein_coding
cdna_end: 5848
cdna_start: 5848
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000494123
variant_allele: C
-
biotype: protein_coding
cdna_end: 5015
cdna_start: 5015
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000497488
variant_allele: A
-
biotype: protein_coding
cdna_end: 5015
cdna_start: 5015
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000497488
variant_allele: C
-
biotype: protein_coding
cdna_end: 729
cdna_start: 729
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000586385
variant_allele: A
-
biotype: protein_coding
cdna_end: 729
cdna_start: 729
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000586385
variant_allele: C
-
biotype: protein_coding
cdna_end: 1230
cdna_start: 1230
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000591534
variant_allele: A
-
biotype: protein_coding
cdna_end: 1230
cdna_start: 1230
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000591534
variant_allele: C
-
biotype: protein_coding
cdna_end: 511
cdna_start: 511
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000591849
variant_allele: A
-
biotype: protein_coding
cdna_end: 511
cdna_start: 511
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000591849
variant_allele: C
-
biotype: protein_coding
cdna_end: 6302
cdna_start: 6302
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000618469
variant_allele: A
-
biotype: protein_coding
cdna_end: 6302
cdna_start: 6302
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000618469
variant_allele: C
-
biotype: protein_coding
cdna_end: 5671
cdna_start: 5671
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000634433
variant_allele: A
-
biotype: protein_coding
cdna_end: 5671
cdna_start: 5671
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000634433
variant_allele: C
-
biotype: protein_coding
cdna_end: 5834
cdna_start: 5834
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000644379
variant_allele: A
-
biotype: protein_coding
cdna_end: 5834
cdna_start: 5834
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000644379
variant_allele: C
-
biotype: protein_coding
cdna_end: 2610
cdna_start: 2610
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000644555
variant_allele: A
-
biotype: protein_coding
cdna_end: 2610
cdna_start: 2610
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000644555
variant_allele: C
-
biotype: protein_coding
cdna_end: 6000
cdna_start: 6000
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000652672
variant_allele: A
-
biotype: protein_coding
cdna_end: 6000
cdna_start: 6000
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000652672
variant_allele: C
-
biotype: retained_intron
cdna_end: 1538
cdna_start: 1538
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000700081
variant_allele: A
-
biotype: retained_intron
cdna_end: 1538
cdna_start: 1538
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000700081
variant_allele: C
-
biotype: retained_intron
cdna_end: 1019
cdna_start: 1019
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000700082
variant_allele: A
-
biotype: retained_intron
cdna_end: 1019
cdna_start: 1019
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000012048
gene_symbol: BRCA1
gene_symbol_source: HGNC
hgnc_id: HGNC:1100
impact: MODIFIER
strand: -1
transcript_id: ENST00000700082
variant_allele: C