{
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    "FALDO": "http://biohackathon.org/resource/faldo#",
    "GENO": "http://purl.obolibrary.org/obo/GENO_",
    "OBI": "http://purl.obolibrary.org/obo/OBI_",
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    "RDFS": "http://www.w3.org/2000/01/rdf-schema#",
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    "SEPIO-CG": "http://purl.obolibrary.org/obo/SEPIO-CG_",
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    "CLINVAR": "http://www.ncbi.nlm.nih.gov/clinvar/",
    "DBSNP": "http://www.ncbi.nlm.nih.gov/projects/SNP/",
    "DOID": "http://purl.obolibrary.org/obo/DOID_",
    "ENSEMBL": "http://www.ensembl.org/",
    "EVS": "http://evs.gs.washington.edu/EVS/",
    "NCBIGene": "https://www.ncbi.nlm.nih.gov/gene/",
    "GNOMAD": "http://gnomad.broadinstitute.org/",
    "HGNC": "http://www.genenames.org/",
    "HP": "http://purl.obolibrary.org/obo/HP_",
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    "LOINC": "http://loinc.org/",
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    "MeSH": "http://identifiers.org/mesh/",
    "MONDO": "http://purl.obolibrary.org/obo/MONDO_",
    "NCIT": "http://purl.obolibrary.org/obo/NCIT_",
    "OMIM": "http://identifiers.org/omim/",
    "Orphanet": "http://purl.obolibrary.org/obo/Orphanet_",
    "PMID": "http://www.ncbi.nlm.nih.gov/pubmed/",
    "REFSEQ": "http://www.ncbi.nlm.nih.gov/nuccore/",
    "SO": "http://purl.obolibrary.org/obo/SO_",
    "UMLS": "http://linkedlifedata.com/resource/umls/id/",
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    "urlPattern": "SEPIO-CG:70012",
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    "usageNotes": "SEPIO:0000184",
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    "totalOfAlleleNegConditionNegIndividuals": {
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    "totalOfUntestedConditionPosIndividuals": {
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    "CaseControlAlleleFrequencyStatement": {
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    "caseGroupFrequency": {
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    "controlGroupFrequency": {
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    "confidenceLevel": {
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    "confidenceIntervalLower": {
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    "FamilyCosegregationStatement": {
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    "phenotypePositiveAllelePositive": {
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    "columns": "SEPIO:0000316",
    "pedigree": "SEPIO:0000318",
    "genotypeValues": "SEPIO:0000317",
    "affectedValues": "SEPIO:0000313",
    "InSilicoPredictionScoreStatement": {
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    "transcript": {
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    "NullAlleleStatement": {
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    "alleleFrequency": {
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    "population": {
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    "alleleCount": {
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    "alleleNumber": {
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    "individualCount": {
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    "homozygousAlleleIndividualCount": {
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      "@type": "@id"
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    "heterozygousAlleleIndividualCount": {
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    "hemizygousAlleleIndividualCount": {
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    "medianCoverage": {
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      "@type": "@id"
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    "ascertainment": {
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    "RegionAllelesStatement": {
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    "region": {
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      "@type": "@id"
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    "ConditionMechanismStatement": {
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    "ConditionPenetranceStatement": {
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    "ConditionPrevelanceStatement": {
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    "minimum": {
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      "@type": "@id"
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    "maximum": {
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      "@type": "@id"
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    "prevelance": {
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    "LocusHeterogeneityStatement": {
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    "BenignMissenseVariationRateStatement": {
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    "RegionTypeStatement": {
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    "FamilyConditionStatement": {
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    "proband": {
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      "@type": "@id"
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    "IndividualAlleleInheritanceStatement": {
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    "individual": {
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      "@type": "@id"
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    "parentalConfirmation": {
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    "IndividualConditionStatement": {
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    "IndividualGenotypeStatement": {
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    "CanonicalAllele": {
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    "canonicalAlleleType": {
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      "@type": "@id"
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      "@type": "@id"
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    "relatedContextualAllele": {
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    "ContextualAllele": {
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    "contextualAlleleType": {
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    "referenceCoordinate": {
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      "@type": "@id"
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    "relatedGene": {
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    "referenceGenome": {
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    "ContextualAlleleName": {
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    "name": "CG:0006",
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    "preferred": "CG:0007",
    "Position": {
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    "ReferenceCoordinate": {
      "@id": "CG:0021"
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    "referenceSequence": {
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    "start": {
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    "end": {
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    "refState": "CG:0008",
    "SequenceLocation": {
      "@id": "GENO:0000815"
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    "stop": {
      "@id": "GENO:0000895",
      "@type": "@id"
    }
  }
}