{
  "consequences": [
    "ChromosomeNumberVariation",
    "ExonLossVariant",
    "FrameshiftVariant",
    "RareAminoAcidVariant",
    "SpliceAcceptorVariant",
    "SpliceDonorVariant",
    "StartLost",
    "StopGained",
    "StopLost",
    "TranscriptAblation",
    "ThreePrimeUtrTruncation",
    "FivePrimeUtrTruncaction",
    "ConservativeInframeDeletion",
    "ConservativeInframeInsertion",
    "DisruptiveInframeDeletion",
    "DisruptiveInframeInsertion",
    "MissenseVariant",
    "RegulatoryRegionAblation",
    "SpliceRegionVariant",
    "TbfsAblation",
    "FivePrimeUtrPrematureStartCodonGainVariant",
    "InitiatorCodonVariant",
    "StartRetained",
    "StopRetainedVariant",
    "SynonymousVariant",
    "ThreePrimeUtrVariant",
    "FivePrimeUtrVariant",
    "CodingSequenceVariant",
    "ConservedIntergenicVariant",
    "ConservedIntronVariant",
    "DownstreamGeneVariant",
    "ExonVariant",
    "FeatureElongation",
    "FeatureTruncation",
    "GeneVariant",
    "IntergenicVariant",
    "IntronVariant",
    "MatureMirnaVariant",
    "Mirna",
    "NmdTranscriptVariant",
    "NonCodingTranscriptExonVariant",
    "NonCodingTranscriptIntronVariant",
    "RegulatoryRegionAmplification",
    "RegulatoryRegionVariant",
    "TfBindingSiteVariant",
    "TfbsAmplification",
    "TranscriptAmplification",
    "TranscriptVariant",
    "UpstreamGeneVariant"
  ],
  "population_frequency": {
    "gnomad_exomes": {
      "enabled": true,
      "allele_frequency": 0.002,
      "heterozygous": 20,
      "homozygous": 0,
      "hemizygous": null
    },
    "gnomad_genomes": {
      "enabled": true,
      "allele_frequency": 0.002,
      "heterozygous": 4,
      "homozygous": 0,
      "hemizygous": null
    },
    "gnomad_mt": {
      "enabled": false,
      "allele_frequency": null,
      "heteroplasmic": null,
      "homoplasmic": null,
      "carriers": null
    },
    "helixmtdb": {
      "enabled": true,
      "frequency": 0.01,
      "heteroplasmic": null,
      "homoplasmic": null
    }
  },
  "inhouse": {
    "enabled": true,
    "carriers": 20,
    "heterozygous": null,
    "homozygous": null,
    "hemizygous": null
  },
  "quality": {
    "sample": {
      "dp_het": 10,
      "dp_hom": 5,
      "gq": 10,
      "ab": 0.2,
      "ad": 3,
      "ad_max": null,
      "filter_active": true
    }
  },
  "genotype": {
    "sample": "Het"
  },
  "clinvar": {
    "require_in_clinvar": false,
    "include_benign": false,
    "include_pathogenic": true,
    "include_likely_benign": false,
    "include_likely_pathogenic": true,
    "include_uncertain_significance": false,
    "include_conflicting_classifications": true
  },
  "transcript": {
    "transcripts_coding": true,
    "transcripts_noncoding": true,
    "max_exon_dist": 100
  },
  "var_type": {
    "snv": true,
    "indel": true,
    "mnv": true
  },
  "locus": {
    "gene_allowlist": [],
    "genomic_regions": []  
  }
}