--- 
- 
  allele_string: GAGCCCTACCACGACATCCGCTTCAACCTGATGGCAGTGGTGCCCGACCGCAGGATCAAGTATGAGGCCAGGCTGCATGTGCTGAAGGTGAACCGTCAGACAGTACTAGAGGCTCTGCAGCAGG/-
  assembly_name: GRCh37
  end: 52440391
  id: ENST00000460680.1:c.661_783+1delGAGCCCTACCACGACATCCGCTTCAACCTGATGGCAGTGGTGCCCGACCGCAGGATCAAGTATGAGGCCAGGCTGCATGTGCTGAAGGTGAACCGTCAGACAGTACTAGAGGCTCTGCAGCAGG
  input: ENST00000460680.1:c.661_783+1delGAGCCCTACCACGACATCCGCTTCAACCTGATGGCAGTGGTGCCCGACCGCAGGATCAAGTATGAGGCCAGGCTGCATGTGCTGAAGGTGAACCGTCAGACAGTACTAGAGGCTCTGCAGCAGG
  most_severe_consequence: splice_acceptor_variant
  seq_region_name: 3
  start: 52440268
  strand: -1
  transcript_consequences: 
    - 
      biotype: protein_coding
      consequence_terms: 
        - splice_acceptor_variant
        - splice_donor_variant
        - coding_sequence_variant
        - intron_variant
      gene_id: ENSG00000163930
      gene_symbol: BAP1
      gene_symbol_source: HGNC
      hgnc_id: 950
      impact: HIGH
      strand: -1
      transcript_id: ENST00000296288
      variant_allele: "-"
    - 
      biotype: protein_coding
      consequence_terms: 
        - upstream_gene_variant
      distance: 4282
      gene_id: ENSG00000010318
      gene_symbol: PHF7
      gene_symbol_source: HGNC
      hgnc_id: 18458
      impact: MODIFIER
      strand: 1
      transcript_id: ENST00000327906
      variant_allele: "-"
    - 
      biotype: protein_coding
      consequence_terms: 
        - upstream_gene_variant
      distance: 4822
      gene_id: ENSG00000010318
      gene_symbol: PHF7
      gene_symbol_source: HGNC
      hgnc_id: 18458
      impact: MODIFIER
      strand: 1
      transcript_id: ENST00000347025
      variant_allele: "-"
    - 
      biotype: protein_coding
      cdna_end: 1133
      cdna_start: 1133
      cds_end: 661
      cds_start: 661
      consequence_terms: 
        - splice_donor_variant
        - coding_sequence_variant
      gene_id: ENSG00000163930
      gene_symbol: BAP1
      gene_symbol_source: HGNC
      hgnc_id: 950
      impact: HIGH
      protein_end: 221
      protein_start: 221
      strand: -1
      transcript_id: ENST00000460680
      variant_allele: "-"
    - 
      biotype: retained_intron
      consequence_terms: 
        - upstream_gene_variant
      distance: 2701
      gene_id: ENSG00000163930
      gene_symbol: BAP1
      gene_symbol_source: HGNC
      hgnc_id: 950
      impact: MODIFIER
      strand: -1
      transcript_id: ENST00000466093
      variant_allele: "-"
    - 
      biotype: protein_coding
      consequence_terms: 
        - upstream_gene_variant
      distance: 1775
      flags: 
        - cds_start_NF
      gene_id: ENSG00000163930
      gene_symbol: BAP1
      gene_symbol_source: HGNC
      hgnc_id: 950
      impact: MODIFIER
      strand: -1
      transcript_id: ENST00000469613
      variant_allele: "-"
    - 
      biotype: protein_coding
      consequence_terms: 
        - downstream_gene_variant
      distance: 804
      flags: 
        - cds_end_NF
      gene_id: ENSG00000163930
      gene_symbol: BAP1
      gene_symbol_source: HGNC
      hgnc_id: 950
      impact: MODIFIER
      strand: -1
      transcript_id: ENST00000470173
      variant_allele: "-"
    - 
      biotype: retained_intron
      cdna_end: 828
      cdna_start: 828
      consequence_terms: 
        - splice_donor_variant
        - non_coding_transcript_exon_variant
      gene_id: ENSG00000163930
      gene_symbol: BAP1
      gene_symbol_source: HGNC
      hgnc_id: 950
      impact: HIGH
      strand: -1
      transcript_id: ENST00000471532
      variant_allele: "-"
    - 
      biotype: retained_intron
      consequence_terms: 
        - upstream_gene_variant
      distance: 4515
      gene_id: ENSG00000010318
      gene_symbol: PHF7
      gene_symbol_source: HGNC
      hgnc_id: 18458
      impact: MODIFIER
      strand: 1
      transcript_id: ENST00000473145
      variant_allele: "-"
    - 
      biotype: protein_coding
      consequence_terms: 
        - upstream_gene_variant
      distance: 2605
      flags: 
        - cds_start_NF
      gene_id: ENSG00000163930
      gene_symbol: BAP1
      gene_symbol_source: HGNC
      hgnc_id: 950
      impact: MODIFIER
      strand: -1
      transcript_id: ENST00000478368
      variant_allele: "-"
    - 
      biotype: processed_transcript
      consequence_terms: 
        - upstream_gene_variant
      distance: 4661
      gene_id: ENSG00000010318
      gene_symbol: PHF7
      gene_symbol_source: HGNC
      hgnc_id: 18458
      impact: MODIFIER
      strand: 1
      transcript_id: ENST00000482327
      variant_allele: "-"
    - 
      biotype: retained_intron
      consequence_terms: 
        - downstream_gene_variant
      distance: 271
      gene_id: ENSG00000163930
      gene_symbol: BAP1
      gene_symbol_source: HGNC
      hgnc_id: 950
      impact: MODIFIER
      strand: -1
      transcript_id: ENST00000483984
      variant_allele: "-"
    - 
      biotype: retained_intron
      consequence_terms: 
        - upstream_gene_variant
      distance: 599
      gene_id: ENSG00000163930
      gene_symbol: BAP1
      gene_symbol_source: HGNC
      hgnc_id: 950
      impact: MODIFIER
      strand: -1
      transcript_id: ENST00000490804
      variant_allele: "-"
    - 
      biotype: nonsense_mediated_decay
      consequence_terms: 
        - downstream_gene_variant
      distance: 798
      gene_id: ENSG00000163930
      gene_symbol: BAP1
      gene_symbol_source: HGNC
      hgnc_id: 950
      impact: MODIFIER
      strand: -1
      transcript_id: ENST00000490917
      variant_allele: "-"