--- 
- 
  allele_string: G/A
  assembly_name: GRCh37
  colocated_variants: 
    - 
      allele_string: G/A/T
      clin_sig: 
        - benign
      clin_sig_allele: A:benign
      end: 865545
      frequencies: 
        A: 
          af: '0.0028'
          afr: 0
          amr: 0
          eas: '0.0129'
          eur: '0.001'
          gnomade: '0.0005013'
          gnomade_afr: '6.229e-05'
          gnomade_amr: 0
          gnomade_asj: 0
          gnomade_eas: '0.01396'
          gnomade_fin: '0.001134'
          gnomade_mid: 0
          gnomade_nfe: '6.375e-05'
          gnomade_remaining: '0.001083'
          gnomade_sas: '0.0001127'
          gnomadg: '0.0004994'
          gnomadg_afr: '2.409e-05'
          gnomadg_ami: 0
          gnomadg_amr: '0.0001307'
          gnomadg_asj: 0
          gnomadg_eas: '0.01073'
          gnomadg_fin: '0.001131'
          gnomadg_mid: 0
          gnomadg_nfe: '7.352e-05'
          gnomadg_remaining: 0
          gnomadg_sas: '0.0002074'
          sas: 0
      id: rs201186828
      phenotype_or_disease: 1
      seq_region_name: 1
      start: 865545
      strand: 1
      var_synonyms: 
        ClinVar: 
          - RCV001510902
          - VCV001164676
  end: 865545
  id: NM_152486.2:c.83G>A
  input: NM_152486.2:c.83G>A
  most_severe_consequence: missense_variant
  seq_region_name: 1
  start: 865545
  strand: 1
  transcript_consequences: 
    - 
      amino_acids: R/Q
      biotype: protein_coding
      cdna_end: 1129
      cdna_start: 1129
      cds_end: 620
      cds_start: 620
      codons: cGg/cAg
      consequence_terms: 
        - missense_variant
      gene_id: 148398
      gene_symbol: SAMD11
      gene_symbol_source: EntrezGene
      given_ref: G
      hgvsc: NM_001385640.1:c.620G>A
      hgvsp: NP_001372569.1:p.Arg207Gln
      impact: MODERATE
      polyphen_prediction: probably_damaging
      polyphen_score: '0.991'
      protein_end: 207
      protein_start: 207
      sift_prediction: deleterious_low_confidence
      sift_score: 0
      strand: 1
      transcript_id: NM_001385640.1
      used_ref: G
      variant_allele: A
    - 
      amino_acids: R/Q
      biotype: protein_coding
      cdna_end: 1129
      cdna_start: 1129
      cds_end: 620
      cds_start: 620
      codons: cGg/cAg
      consequence_terms: 
        - missense_variant
      gene_id: 148398
      gene_symbol: SAMD11
      gene_symbol_source: EntrezGene
      given_ref: G
      hgvsc: NM_001385641.1:c.620G>A
      hgvsp: NP_001372570.1:p.Arg207Gln
      impact: MODERATE
      polyphen_prediction: probably_damaging
      polyphen_score: '0.991'
      protein_end: 207
      protein_start: 207
      sift_prediction: deleterious_low_confidence
      sift_score: 0
      strand: 1
      transcript_id: NM_001385641.1
      used_ref: G
      variant_allele: A
    - 
      amino_acids: R/Q
      biotype: protein_coding
      cdna_end: 173
      cdna_start: 173
      cds_end: 83
      cds_start: 83
      codons: cGg/cAg
      consequence_terms: 
        - missense_variant
      gene_id: 148398
      gene_symbol: SAMD11
      gene_symbol_source: EntrezGene
      given_ref: G
      hgvsc: NM_152486.4:c.83G>A
      hgvsp: NP_689699.3:p.Arg28Gln
      impact: MODERATE
      polyphen_prediction: possibly_damaging
      polyphen_score: '0.778'
      protein_end: 28
      protein_start: 28
      sift_prediction: deleterious
      sift_score: 0
      strand: 1
      transcript_id: NM_152486.4
      used_ref: G
      variant_allele: A
    - 
      biotype: lncRNA
      consequence_terms: 
        - upstream_gene_variant
      distance: 4561
      gene_id: 107985728
      gene_symbol: LOC107985728
      gene_symbol_source: EntrezGene
      given_ref: G
      impact: MODIFIER
      strand: -1
      transcript_id: NR_168405.1
      used_ref: G
      variant_allele: A