{"title":"Variant Lookup Schema","description":"Description of properties returned when querying the API for a variant","type":"object","properties":{"original_variant":{"type":"string","required":false,"read_only":false,"label":"Original variant"},"chromosome":{"type":"string","required":false,"read_only":false,"label":"Chromosome"},"alt":{"type":"string","required":false,"read_only":false,"label":"ALT Sequence"},"ref":{"type":"string","required":false,"read_only":false,"label":"REF Sequence"},"pos":{"type":"integer","required":false,"read_only":false,"label":"Position"},"variant_id":{"type":"string","required":false,"read_only":false,"label":"Variant Id"},"regions":{"type":"object","title":"Regions","properties":{"uniprot_regions":{"type":"object","title":"Uniprot Regions","properties":{"version":{"type":"string","required":false,"read_only":false,"label":"Version"},"items":{"type":"array","title":"Uniprot regions entries","items":{"type":"object","properties":{"absolute_positon":{"type":"integer","required":false,"read_only":false,"label":"Absolute positon"},"amino_acid":{"type":"string","required":false,"read_only":false,"label":"Amino acid"},"chromo":{"type":"string","required":false,"read_only":false,"label":"Chromo"},"colour":{"type":"string","required":false,"read_only":false,"label":"Colour"},"description":{"type":"string","required":false,"read_only":false,"label":"Description"},"length":{"type":"integer","required":false,"read_only":false,"label":"Length"},"position":{"type":"integer","required":false,"read_only":false,"label":"Position"},"protein":{"type":"string","required":false,"read_only":false,"label":"Protein"},"type":{"type":"string","required":false,"read_only":false,"label":"Type"},"pub_med_references":{"type":"list","required":false,"read_only":false,"label":"Pub Med references","items":{"type":"integer"}}}}}}},"clinvarcnv":{"type":"object","title":"ClinVar CNVs","properties":{"version":{"type":"string","required":false,"read_only":false,"label":"Version"},"items":{"type":"array","title":"ClinVar CNV entries","items":{"type":"object","properties":{"clinvarregionjson":{"type":"object","title":"ClinVar region json","properties":{"accessions":{"type":"array","title":"Accessions","items":{"type":"object","properties":{"variation_id":{"type":"integer","required":false,"read_only":false,"label":"Variation ID"},"submissions":{"type":"array","title":"Submissions","items":{"type":"object","properties":{"submitter_name":{"type":"string","required":false,"read_only":false,"label":"Submitter name"},"submitter_date":{"type":"integer","required":false,"read_only":false,"label":"Submitter date"},"review_description":{"type":"string","required":false,"read_only":false,"label":"Review description"},"review_status":{"type":"string","required":false,"read_only":false,"label":"Review status"},"review_date":{"type":"integer","required":false,"read_only":false,"label":"Review date"},"submission_description":{"type":"list","required":false,"read_only":false,"label":"Submission description","items":{"type":"string"}},"accession_id":{"type":"string","required":false,"read_only":false,"label":"Accession ID"},"clinical_significance":{"type":"list","required":false,"read_only":false,"label":"Clinical significance","items":{"type":"string"}},"diseases":{"type":"array","title":"Diseases","items":{"type":"object","properties":{"symbols":{"type":"list","required":false,"read_only":false,"label":"Symbols","items":{"type":"string"}},"normalized_disease":{"type":"list","required":false,"read_only":false,"label":"Normalized disease","items":{"type":"string"}},"names":{"type":"list","required":false,"read_only":false,"label":"Names","items":{"type":"string"}},"normalized_cancer":{"type":"list","required":false,"read_only":false,"label":"Normalized cancer","items":{"type":"string"}}}}},"method":{"type":"string","required":false,"read_only":false,"label":"Method"},"date_updated":{"type":"string","required":false,"read_only":false,"label":"Date updated"},"origin":{"type":"string","required":false,"read_only":false,"label":"Origin"}}}},"review_stars":{"type":"integer","required":false,"read_only":false,"label":"Review stars"},"review_description":{"type":"string","required":false,"read_only":false,"label":"Review description"},"allele_id":{"type":"integer","required":false,"read_only":false,"label":"Allele ID"},"submission_description":{"type":"list","required":false,"read_only":false,"label":"Submission description","items":{"type":"string"}},"accession_id":{"type":"string","required":false,"read_only":false,"label":"Accession ID"},"clinical_significance":{"type":"list","required":false,"read_only":false,"label":"Clinical significance","items":{"type":"string"}},"date_created":{"type":"string","required":false,"read_only":false,"label":"Date created"},"diseases":{"type":"array","title":"Diseases","items":{"type":"object","properties":{"pub_med_references":{"type":"list","required":false,"read_only":false,"label":"Pub med references","items":{"type":"integer"}},"symbols":{"type":"list","required":false,"read_only":false,"label":"Symbols","items":{"type":"string"}},"normalized_cancer":{"type":"list","required":false,"read_only":false,"label":"Normalized cancer","items":{"type":"string"}},"keyword":{"type":"string","required":false,"read_only":false,"label":"Keyword"},"disease_mechanism":{"type":"string","required":false,"read_only":false,"label":"Disease mechanism"},"normalized_disease":{"type":"list","required":false,"read_only":false,"label":"Normalized disease","items":{"type":"string"}},"names":{"type":"list","required":false,"read_only":false,"label":"Names","items":{"type":"string"}}}}},"title":{"type":"string","required":false,"read_only":false,"label":"Title"},"review_status":{"type":"string","required":false,"read_only":false,"label":"Review status"},"review_date":{"type":"string","required":false,"read_only":false,"label":"Review date"}}}},"acmg_class":{"type":"string","required":false,"read_only":false,"label":"ACMG class"},"allele_id":{"type":"integer","required":false,"read_only":false,"label":"Allele ID"},"clinical_significance":{"type":"list","required":false,"read_only":false,"label":"Clinical significance","items":{"type":"string"}},"date_created":{"type":"string","required":false,"read_only":false,"label":"Date created"},"last_evaluation":{"type":"string","required":false,"read_only":false,"label":"Last evaluation"},"names":{"type":"list","required":false,"read_only":false,"label":"Names","items":{"type":"string"}},"num_submissions":{"type":"integer","required":false,"read_only":false,"label":"Number of submissions"},"num_submitters":{"type":"integer","required":false,"read_only":false,"label":"Number of submitters"},"review_stars":{"type":"integer","required":false,"read_only":false,"label":"Review stars"},"review_status":{"type":"string","required":false,"read_only":false,"label":"Review status"},"type":{"type":"string","required":false,"read_only":false,"label":"Type"},"variation_id":{"type":"integer","required":false,"read_only":false,"label":"Variation ID"}}},"absolute_positon":{"type":"integer","required":false,"read_only":false,"label":"Absolute position"},"chromo":{"type":"string","required":false,"read_only":false,"label":"Chromosome"},"length":{"type":"integer","required":false,"read_only":false,"label":"Length"},"position":{"type":"integer","required":false,"read_only":false,"label":"Position"}}}}}},"decipher":{"type":"object","title":"Sanger Decipher","properties":{"version":{"type":"string","required":false,"read_only":false,"label":"Version"},"items":{"type":"array","title":"Sanger decipher details","items":{"type":"object","properties":{"json":{"type":"object","title":"Json","properties":{"contribution":{"type":"string","required":false,"read_only":false,"label":"Contribution"},"genotype":{"type":"string","required":false,"read_only":false,"label":"Genotype"},"inheritance":{"type":"string","required":false,"read_only":false,"label":"Inheritance"},"mean_ratio":{"type":"float","required":false,"read_only":false,"label":"Mean Ratio"},"normalized_phenotype":{"type":"list","required":false,"read_only":false,"label":"Normalized phenotype","items":{"type":"string"}},"pathogenicity":{"type":"string","required":false,"read_only":false,"label":"Pathogenicity"},"phenotypes":{"type":"list","required":false,"read_only":false,"label":"Phenotypes","items":{"type":"string"}},"variant_class":{"type":"string","required":false,"read_only":false,"label":"Variant Class"},"variant_type":{"type":"string","required":false,"read_only":false,"label":"Variant Type"}}},"absolute_positon":{"type":"integer","required":false,"read_only":false,"label":"Absolute position"},"chromo":{"type":"string","required":false,"read_only":false,"label":"Chromosome"},"colour":{"type":"string","required":false,"read_only":false,"label":"Colour"},"length":{"type":"integer","required":false,"read_only":false,"label":"Length"},"position":{"type":"integer","required":false,"read_only":false,"label":"Position"}}}}}},"ncbi_dbVar":{"type":"object","title":"NCBIDbVar","properties":{"version":{"type":"string","required":false,"read_only":false,"label":"Version"},"items":{"type":"array","title":"NCBI dbVar entries","items":{"type":"object","properties":{"ac":{"type":"integer","required":false,"read_only":false,"label":"AC"},"af":{"type":"integer","required":false,"read_only":false,"label":"AF"},"clnacc":{"type":"string","required":false,"read_only":false,"label":"CLNACC"},"clnsig":{"type":"string","required":false,"read_only":false,"label":"CLNSIG"},"desc":{"type":"string","required":false,"read_only":false,"label":"DESC"},"experiment":{"type":"integer","required":false,"read_only":false,"label":"EXPERIMENT"},"links":{"type":"string","required":false,"read_only":false,"label":"LINKS"},"origin":{"type":"string","required":false,"read_only":false,"label":"ORIGIN"},"regionid":{"type":"string","required":false,"read_only":false,"label":"REGIONID"},"svlen":{"type":"string","required":false,"read_only":false,"label":"SVLEN"},"svtype":{"type":"string","required":false,"read_only":false,"label":"SVTYPE"},"absolute_positon":{"type":"integer","required":false,"read_only":false,"label":"Absolute position"},"chromo":{"type":"string","required":false,"read_only":false,"label":"Chromo"},"clinical_source":{"type":"string","required":false,"read_only":false,"label":"Clinical source"},"length":{"type":"integer","required":false,"read_only":false,"label":"Length"},"position":{"type":"integer","required":false,"read_only":false,"label":"Posision"}}}}}},"exacCNV":{"type":"object","title":"ExacCNV","properties":{"version":{"type":"string","required":false,"read_only":false,"label":"Version"},"items":{"type":"array","title":"ExacCNV Entries","items":{"type":"object","properties":{"absolute_positon":{"type":"integer","required":false,"read_only":false,"label":"Absolute position"},"chromo":{"type":"string","required":false,"read_only":false,"label":"Chromo"},"colour":{"type":"string","required":false,"read_only":false,"label":"Colour"},"exac_population":{"type":"string","required":false,"read_only":false,"label":"Exac population"},"length":{"type":"integer","required":false,"read_only":false,"label":"Length"},"position":{"type":"integer","required":false,"read_only":false,"label":"Position"},"quality":{"type":"integer","required":false,"read_only":false,"label":"Quality"}}}}}},"gnomad_sv":{"type":"object","title":"GnomAD SV","properties":{}},"tcag_dgv":{"type":"object","title":"TCAG DGV","properties":{"version":{"type":"string","required":false,"read_only":false,"label":"Version"},"items":{"type":"array","title":"DGV serializer","items":{"type":"object","properties":{"dgvregionjson":{"type":"object","title":"DGV region json info","properties":{"accession":{"type":"string","required":false,"read_only":false,"label":"Accession"},"observations":{"type":"object","title":"DGV region observations","properties":{"observed_gains":{"type":"integer","required":false,"read_only":false,"label":"Observed gains"},"observed_losses":{"type":"integer","required":false,"read_only":false,"label":"Observed losses"},"samplesize":{"type":"integer","required":false,"read_only":false,"label":"Sample size"}}},"pubmedids":{"type":"integer","required":false,"read_only":false,"label":"PubMedIds"},"sv_type":{"type":"string","required":false,"read_only":false,"label":"SV type"}}},"absolute_positon":{"type":"integer","required":false,"read_only":false,"label":"Absolute position"},"chromo":{"type":"string","required":false,"read_only":false,"label":"Chromosome"},"length":{"type":"integer","required":false,"read_only":false,"label":"Length"},"position":{"type":"integer","required":false,"read_only":false,"label":"Position"}}}}}},"clingen_regions":{"type":"object","title":"NIH ClinGen Regions","properties":{"version":{"type":"string","required":false,"read_only":false,"label":"Version"},"items":{"type":"array","title":"Clingen regions","items":{"type":"object","properties":{"pub_med_references":{"type":"list","required":false,"read_only":false,"label":"Pub med references","items":{"type":"integer"}},"triplosensitivity_description":{"type":"string","required":false,"read_only":false,"label":"Triplosensitivity description"},"haploinsufficiency_description":{"type":"string","required":false,"read_only":false,"label":"Haploinsufficiency description"},"haploinsufficiency_score":{"type":"integer","required":false,"read_only":false,"label":"Haploinsufficiency score"},"position":{"type":"integer","required":false,"read_only":false,"label":"Position"},"chromo":{"type":"string","required":false,"read_only":false,"label":"Chromosome"},"absolute_positon":{"type":"integer","required":false,"read_only":false,"label":"Absolute position"},"length":{"type":"integer","required":false,"read_only":false,"label":"Length"},"triplosensitivity_score":{"type":"integer","required":false,"read_only":false,"label":"Triplosensitivity score"},"isca_id":{"type":"string","required":false,"read_only":false,"label":"ISCA ID"},"isca_region_name":{"type":"string","required":false,"read_only":false,"label":"ISCA region name"}}}}}},"clingen_cnvs":{"type":"object","title":"NIH ClinGen CNVs","properties":{"version":{"type":"string","required":false,"read_only":false,"label":"Version"},"items":{"type":"array","title":"ClinGen details","items":{"type":"object","properties":{"colour":{"type":"string","required":false,"read_only":false,"label":"Colour"},"description":{"type":"string","required":false,"read_only":false,"label":"Description"},"length":{"type":"integer","required":false,"read_only":false,"label":"Length"},"absolute_positon":{"type":"integer","required":false,"read_only":false,"label":"Absolute positon"},"chromo":{"type":"string","required":false,"read_only":false,"label":"Chromosome"},"position":{"type":"integer","required":false,"read_only":false,"label":"Position"}}}}}},"nih_gtex":{"type":"object","title":"NIH GTEx","properties":{"version":{"type":"string","required":false,"read_only":false,"label":"Version"},"items":{"type":"array","title":"NIH Gtex regions","items":{"type":"object","properties":{"GTExJsonData":{"type":"object","title":"GTEx Json Data","properties":{"exon_id":{"type":"string","required":false,"read_only":false,"label":"Exon ID"},"exon_number":{"type":"string","required":false,"read_only":false,"label":"Exon Number"},"expressions":{"type":"object","title":"Gtex Regions Expressions","properties":{"adipose_subcutaneous":{"type":"float","required":false,"read_only":false,"label":"Adipose_Subcutaneous"},"adipose_visceral_omentum":{"type":"float","required":false,"read_only":false,"label":"Adipose_Visceral_Omentum"},"adrenal_gland":{"type":"float","required":false,"read_only":false,"label":"Adrenal_Gland"},"artery_aorta":{"type":"float","required":false,"read_only":false,"label":"Artery_Aorta"},"artery_coronary":{"type":"float","required":false,"read_only":false,"label":"Artery_Coronary"},"artery_tibial":{"type":"float","required":false,"read_only":false,"label":"Artery_Tibial"},"bladder":{"type":"float","required":false,"read_only":false,"label":"Bladder"},"brain_amygdala":{"type":"float","required":false,"read_only":false,"label":"Brain_Amygdala"},"brain_anterior_cingulate_cortex_ba24":{"type":"float","required":false,"read_only":false,"label":"Brain_Anterior_cingulate_cortex_BA24"},"brain_caudate_basal_ganglia":{"type":"float","required":false,"read_only":false,"label":"Brain_Caudate_basal_ganglia"},"brain_cerebellar_hemisphere":{"type":"float","required":false,"read_only":false,"label":"Brain_Cerebellar_Hemisphere"},"brain_cerebellum":{"type":"float","required":false,"read_only":false,"label":"Brain_Cerebellum"},"brain_cortex":{"type":"float","required":false,"read_only":false,"label":"Brain_Cortex"},"brain_frontal_cortex_ba9":{"type":"float","required":false,"read_only":false,"label":"Brain_Frontal_Cortex_BA9"},"brain_hippocampus":{"type":"float","required":false,"read_only":false,"label":"Brain_Hippocampus"},"brain_hypothalamus":{"type":"float","required":false,"read_only":false,"label":"Brain_Hypothalamus"},"brain_nucleus_accumbens_basal_ganglia":{"type":"float","required":false,"read_only":false,"label":"Brain_Nucleus_accumbens_basal_ganglia"},"brain_putamen_basal_ganglia":{"type":"float","required":false,"read_only":false,"label":"Brain_Putamen_basal_ganglia"},"brain_spinal_cord_cervical_c_1":{"type":"float","required":false,"read_only":false,"label":"Brain_Spinal_cord_cervical_c_1"},"brain_substantia_nigra":{"type":"float","required":false,"read_only":false,"label":"Brain_Substantia_nigra"},"breast_mammary_tissue":{"type":"float","required":false,"read_only":false,"label":"Breast_Mammary_Tissue"},"cells_cultured_fibroblasts":{"type":"float","required":false,"read_only":false,"label":"Cells_Cultured_fibroblasts"},"cells_ebv_transformed_lymphocytes":{"type":"float","required":false,"read_only":false,"label":"Cells_EBV_transformed_lymphocytes"},"cervix_ectocervix":{"type":"float","required":false,"read_only":false,"label":"Cervix_Ectocervix"},"cervix_endocervix":{"type":"float","required":false,"read_only":false,"label":"Cervix_Endocervix"},"colon_sigmoid":{"type":"float","required":false,"read_only":false,"label":"Colon_Sigmoid"},"colon_transverse":{"type":"float","required":false,"read_only":false,"label":"Colon_Transverse"},"esophagus_gastroesophageal_junction":{"type":"float","required":false,"read_only":false,"label":"Esophagus_Gastroesophageal_Junction"},"esophagus_mucosa":{"type":"float","required":false,"read_only":false,"label":"Esophagus_Mucosa"},"esophagus_muscularis":{"type":"float","required":false,"read_only":false,"label":"Esophagus_Muscularis"},"fallopian_tube":{"type":"float","required":false,"read_only":false,"label":"Fallopian_Tube"},"heart_atrial_appendage":{"type":"float","required":false,"read_only":false,"label":"Heart_Atrial_Appendage"},"heart_left_ventricle":{"type":"float","required":false,"read_only":false,"label":"Heart_Left_Ventricle"},"kidney_cortex":{"type":"float","required":false,"read_only":false,"label":"Kidney_Cortex"},"kidney_medulla":{"type":"float","required":false,"read_only":false,"label":"Kidney_Medulla"},"liver":{"type":"float","required":false,"read_only":false,"label":"Liver"},"lung":{"type":"float","required":false,"read_only":false,"label":"Lung"},"minor_salivary_gland":{"type":"float","required":false,"read_only":false,"label":"Minor_Salivary_Gland"},"muscle_skeletal":{"type":"float","required":false,"read_only":false,"label":"Muscle_Skeletal"},"nerve_tibial":{"type":"float","required":false,"read_only":false,"label":"Nerve_Tibial"},"ovary":{"type":"float","required":false,"read_only":false,"label":"Ovary"},"pancreas":{"type":"float","required":false,"read_only":false,"label":"Pancreas"},"pituitary":{"type":"float","required":false,"read_only":false,"label":"Pituitary"},"prostate":{"type":"float","required":false,"read_only":false,"label":"Prostate"},"skin_not_sun_exposed_suprapubic":{"type":"float","required":false,"read_only":false,"label":"Skin_Not_Sun_Exposed_Suprapubic"},"skin_sun_exposed_lower_leg":{"type":"float","required":false,"read_only":false,"label":"Skin_Sun_Exposed_Lower_leg"},"small_intestine_terminal_ileum":{"type":"float","required":false,"read_only":false,"label":"Small_Intestine_Terminal_Ileum"},"spleen":{"type":"float","required":false,"read_only":false,"label":"Spleen"},"stomach":{"type":"float","required":false,"read_only":false,"label":"Stomach"},"testis":{"type":"float","required":false,"read_only":false,"label":"Testis"},"thyroid":{"type":"float","required":false,"read_only":false,"label":"Thyroid"},"uterus":{"type":"float","required":false,"read_only":false,"label":"Uterus"},"vagina":{"type":"float","required":false,"read_only":false,"label":"Vagina"},"whole_blood":{"type":"float","required":false,"read_only":false,"label":"Whole_Blood"}}},"gencode_id":{"type":"string","required":false,"read_only":false,"label":"Gencode ID"},"gene":{"type":"string","required":false,"read_only":false,"label":"Gene"},"gene_model_positions":{"type":"object","title":"Gene Model Positions","properties":{"chromosome":{"type":"string","required":false,"read_only":false,"label":"Chromosome"},"end":{"type":"integer","required":false,"read_only":false,"label":"End"},"start":{"type":"integer","required":false,"read_only":false,"label":"Start"},"strand":{"type":"string","required":false,"read_only":false,"label":"Strand"}}},"gene_positions":{"type":"object","title":"Gene Positions","properties":{"chromosome":{"type":"string","required":false,"read_only":false,"label":"Chromosome"},"end":{"type":"integer","required":false,"read_only":false,"label":"End"},"start":{"type":"integer","required":false,"read_only":false,"label":"Start"},"strand":{"type":"string","required":false,"read_only":false,"label":"Strand"}}}}},"absolute_positon":{"type":"integer","required":false,"read_only":false,"label":"Absolute Positon"},"chromo":{"type":"string","required":false,"read_only":false,"label":"Chromo"},"length":{"type":"integer","required":false,"read_only":false,"label":"Length"},"position":{"type":"integer","required":false,"read_only":false,"label":"Posision"}}}}}}}},"variant_type":{"type":"string","required":false,"read_only":false,"label":"Variant type"},"cytobands":{"type":"string","required":false,"read_only":false,"label":"Cytoband"},"refseq_transcripts":{"type":"array","title":"RefSeq Transcripts","items":{"type":"object","properties":{"items":{"type":"array","title":"Transcripts","items":{"type":"object","properties":{"name":{"type":"string","required":true,"read_only":false,"label":"Transcript"},"strand":{"type":"string","required":true,"read_only":false,"label":"Strand"},"coding_impact":{"type":"string","required":false,"read_only":false,"label":"Coding impact"},"function":{"type":"list","required":false,"read_only":false,"label":"Function","items":{"type":"field"}},"hgvs":{"type":"string","required":false,"read_only":false,"label":"HGVS coding"},"hgvs_p1":{"type":"string","required":false,"read_only":false,"label":"Hgvs p1"},"hgvs_p3":{"type":"string","required":false,"read_only":false,"label":"Hgvs p3"},"location":{"type":"string","required":false,"read_only":false,"label":"Location"},"coding_location":{"type":"string","required":false,"read_only":false,"label":"Protein position"},"canonical":{"type":"boolean","required":false,"read_only":false,"label":"Canonical"},"gene_symbol":{"type":"string","required":false,"read_only":false,"label":"Gene symbol"},"splice_distance":{"type":"string","required":false,"read_only":false,"label":"Splice distance"},"ensembl_support_level":{"type":"string","required":false,"read_only":false,"label":"Transcript support level"},"ensembl_appris":{"type":"string","required":false,"read_only":false,"label":"Ensembl APPRIS"},"mane_select":{"type":"string","required":false,"read_only":false,"label":"MANE Select"},"mane_plus":{"type":"string","required":false,"read_only":false,"label":"MANE Plus"},"uniprot_id":{"type":"string","required":false,"read_only":false,"label":"Uniprot ID"}}}},"version":{"type":"string","required":true,"read_only":false,"label":"Version"}}}},"ensembl_transcripts":{"type":"array","title":"Ensembl Transcripts","items":{"type":"object","properties":{"items":{"type":"array","title":"Transcripts","items":{"type":"object","properties":{"name":{"type":"string","required":true,"read_only":false,"label":"Transcript"},"strand":{"type":"string","required":true,"read_only":false,"label":"Strand"},"coding_impact":{"type":"string","required":false,"read_only":false,"label":"Coding impact"},"function":{"type":"list","required":false,"read_only":false,"label":"Function","items":{"type":"field"}},"hgvs":{"type":"string","required":false,"read_only":false,"label":"HGVS coding"},"hgvs_p1":{"type":"string","required":false,"read_only":false,"label":"Hgvs p1"},"hgvs_p3":{"type":"string","required":false,"read_only":false,"label":"Hgvs p3"},"location":{"type":"string","required":false,"read_only":false,"label":"Location"},"coding_location":{"type":"string","required":false,"read_only":false,"label":"Protein position"},"canonical":{"type":"boolean","required":false,"read_only":false,"label":"Canonical"},"gene_symbol":{"type":"string","required":false,"read_only":false,"label":"Gene symbol"},"splice_distance":{"type":"string","required":false,"read_only":false,"label":"Splice distance"},"ensembl_support_level":{"type":"string","required":false,"read_only":false,"label":"Transcript support level"},"ensembl_appris":{"type":"string","required":false,"read_only":false,"label":"Ensembl APPRIS"},"mane_select":{"type":"string","required":false,"read_only":false,"label":"MANE Select"},"mane_plus":{"type":"string","required":false,"read_only":false,"label":"MANE Plus"},"uniprot_id":{"type":"string","required":false,"read_only":false,"label":"Uniprot ID"}}}},"version":{"type":"string","required":true,"read_only":false,"label":"Version"}}}},"broad_exac":{"type":"array","title":"ExAC","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"ac":{"type":"integer","required":false,"read_only":false,"label":"Allele Count"},"an":{"type":"integer","required":false,"read_only":false,"label":"Allele Number"},"ac_adj":{"type":"field","required":false,"read_only":true,"label":"Allele Count"},"an_adj":{"type":"field","required":false,"read_only":true,"label":"Allele Number"},"af":{"type":"field","required":false,"read_only":true,"label":"Allele Frequency"},"ac_afr":{"type":"integer","required":false,"read_only":false,"label":"Allele Count African"},"ac_amr":{"type":"integer","required":false,"read_only":false,"label":"Allele Count American"},"ac_asj":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Ashkenazi Jewish"},"ac_eas":{"type":"integer","required":false,"read_only":false,"label":"Allele Count East Asian"},"ac_fin":{"type":"integer","required":false,"read_only":false,"label":"Allele Count European (Finnish)"},"ac_nfe":{"type":"integer","required":false,"read_only":false,"label":"Allele Count European (Non-Finnish)"},"ac_oth":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Other"},"ac_sas":{"type":"integer","required":false,"read_only":false,"label":"Allele Count South Asian"},"ac_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Male"},"ac_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Female"},"hom":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes"},"hemi":{"type":"integer","required":false,"read_only":false,"label":"Number of Hemizygotes"},"ac_hom":{"type":"field","required":false,"read_only":true,"label":"Number of Homozygotes"},"ac_hemi":{"type":"field","required":false,"read_only":true,"label":"Number of Hemizygotes"},"an_afr":{"type":"integer","required":false,"read_only":false,"label":"Allele Number African"},"an_amr":{"type":"integer","required":false,"read_only":false,"label":"Allele Number American"},"an_asj":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Ashkenazi Jewish"},"an_eas":{"type":"integer","required":false,"read_only":false,"label":"Allele Number East Asian"},"an_fin":{"type":"integer","required":false,"read_only":false,"label":"Allele Number European (Finnish)"},"an_nfe":{"type":"integer","required":false,"read_only":false,"label":"Allele Number European (Non-Finnish)"},"an_oth":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Other"},"an_sas":{"type":"integer","required":false,"read_only":false,"label":"Allele Number South Asian"},"an_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Male"},"an_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Female"},"hom_afr":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes African"},"hom_amr":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes American"},"hom_asj":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes Ashkenazi Jewish"},"hom_eas":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes East Asian"},"hom_fin":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes European (Finnish)"},"hom_nfe":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes European (Non-Finnish)"},"hom_oth":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes Other"},"hom_sas":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes South Asian"},"hom_male":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes Male"},"hom_female":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes Female"},"hemi_afr":{"type":"integer","required":false,"read_only":false,"label":"Number of Hemizygotes African"},"hemi_amr":{"type":"integer","required":false,"read_only":false,"label":"Number of Hemizygotes American"},"hemi_asj":{"type":"integer","required":false,"read_only":false,"label":"Number of Hemizygotes Ashkenazi Jewish"},"hemi_eas":{"type":"integer","required":false,"read_only":false,"label":"Number of Hemizygotes East Asian"},"hemi_fin":{"type":"integer","required":false,"read_only":false,"label":"Number of Hemizygotes European (Finnish)"},"hemi_nfe":{"type":"integer","required":false,"read_only":false,"label":"Number of Hemizygotes European (Non-Finnish)"},"hemi_oth":{"type":"integer","required":false,"read_only":false,"label":"Number of Hemizygotes Other"},"hemi_sas":{"type":"integer","required":false,"read_only":false,"label":"Number of Hemizygotes South Asian"},"af_afr":{"type":"field","required":false,"read_only":true,"label":"Allele Frequency African"},"af_amr":{"type":"field","required":false,"read_only":true,"label":"Allele Frequency American"},"af_asj":{"type":"field","required":false,"read_only":true,"label":"Allele Frequency Ashkenazi Jewish"},"af_eas":{"type":"field","required":false,"read_only":true,"label":"Allele Frequency East Asian"},"af_fin":{"type":"field","required":false,"read_only":true,"label":"Allele Frequency European (Finnish)"},"af_nfe":{"type":"field","required":false,"read_only":true,"label":"Allele Frequency European (Non-Finnish)"},"af_oth":{"type":"field","required":false,"read_only":true,"label":"Allele Frequency Other"},"af_sas":{"type":"field","required":false,"read_only":true,"label":"Allele Frequency South Asian"},"af_male":{"type":"field","required":false,"read_only":true,"label":"Allele Frequency Male"},"af_female":{"type":"field","required":false,"read_only":true,"label":"Allele Frequency Female"},"indel_original_representation":{"type":"string","required":false,"read_only":false,"label":"Indel original representation"}}}},"gnomad_exomes":{"type":"array","title":"gnomAD Exomes","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"filter":{"type":"string","required":false,"read_only":false,"label":"Filter"},"ac":{"type":"integer","required":false,"read_only":false,"label":"Allele Count"},"an":{"type":"integer","required":false,"read_only":false,"label":"Allele Number"},"af":{"type":"field","required":false,"read_only":true,"label":"Allele Frequency"},"ac_afr":{"type":"integer","required":false,"read_only":false,"label":"Allele Count African"},"ac_amr":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Latino"},"ac_ami":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Amish"},"ac_asj":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Ashkenazi Jewish"},"ac_eas":{"type":"integer","required":false,"read_only":false,"label":"Allele Count East Asian"},"ac_eas_kor":{"type":"integer","required":false,"read_only":false,"label":"Allele Count East Asian - Korean Ancestry"},"ac_eas_jpn":{"type":"integer","required":false,"read_only":false,"label":"Allele Count East Asian - Japanese Ancestry"},"ac_eas_oea":{"type":"integer","required":false,"read_only":false,"label":"Allele Count East Asian - Other East Asian Ancestry"},"ac_fin":{"type":"integer","required":false,"read_only":false,"label":"Allele Count European (Finnish)"},"ac_nfe":{"type":"integer","required":false,"read_only":false,"label":"Allele Count European (Non-Finnish)"},"ac_mid":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Middle Eastern"},"ac_nfe_bgr":{"type":"integer","required":false,"read_only":false,"label":"Allele Count European (Non-Finnish) - Bulgarian Ancestry"},"ac_nfe_est":{"type":"integer","required":false,"read_only":false,"label":"Allele Count European (Non-Finnish) - Estonian Ancestry"},"ac_nfe_nwe":{"type":"integer","required":false,"read_only":false,"label":"Allele Count European (Non-Finnish) - North West European Ancestry"},"ac_nfe_onf":{"type":"integer","required":false,"read_only":false,"label":"Allele Count European (Non-Finnish) - Other Non Finnish Ancestry"},"ac_nfe_seu":{"type":"integer","required":false,"read_only":false,"label":"Allele Count European (Non-Finnish) - Southern European Ancestry"},"ac_nfe_swe":{"type":"integer","required":false,"read_only":false,"label":"Allele Count European (Non-Finnish) - Swedish Ancestry"},"ac_oth":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Other"},"ac_sas":{"type":"integer","required":false,"read_only":false,"label":"Allele Count South Asian"},"ac_afr_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Count African Male"},"ac_amr_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Latino Male"},"ac_ami_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Amish Male"},"ac_asj_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Ashkenazi Jewish Male"},"ac_eas_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Count East Asian Male"},"ac_fin_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Count European (Finnish) Male"},"ac_nfe_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Count European (Non-Finnish) Male"},"ac_mid_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Middle Eastern Male"},"ac_oth_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Other Male"},"ac_sas_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Count South Asian Male"},"ac_afr_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Count African Female"},"ac_amr_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Latino Female"},"ac_ami_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Amish Female"},"ac_asj_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Ashkenazi Jewish Female"},"ac_eas_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Count East Asian Female"},"ac_fin_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Count European (Finnish) Female"},"ac_nfe_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Count European (Non-Finnish) Female"},"ac_mid_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Middle Eastern Female"},"ac_oth_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Other Female"},"ac_sas_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Count South Asian Female"},"ac_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Male"},"ac_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Female"},"an_afr":{"type":"integer","required":false,"read_only":false,"label":"Allele Number African"},"an_amr":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Latino"},"an_ami":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Amish"},"an_asj":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Ashkenazi Jewish"},"an_eas":{"type":"integer","required":false,"read_only":false,"label":"Allele Number East Asian"},"an_eas_kor":{"type":"integer","required":false,"read_only":false,"label":"Allele Number East Asian - Korean Ancestry"},"an_eas_jpn":{"type":"integer","required":false,"read_only":false,"label":"Allele Number East Asian - Japansese Ancestry"},"an_eas_oea":{"type":"integer","required":false,"read_only":false,"label":"Allele Number East Asian - Other East Asian Ancestry"},"an_fin":{"type":"integer","required":false,"read_only":false,"label":"Allele Number European (Finnish)"},"an_nfe":{"type":"integer","required":false,"read_only":false,"label":"Allele Number European (Non-Finnish)"},"an_mid":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Middle Eastern"},"an_nfe_bgr":{"type":"integer","required":false,"read_only":false,"label":"Allele Number European (Non-Finnish) - Bulgarian Ancestry"},"an_nfe_est":{"type":"integer","required":false,"read_only":false,"label":"Allele Number European (Non-Finnish) - Estonian Ancestry"},"an_nfe_nwe":{"type":"integer","required":false,"read_only":false,"label":"Allele Number European (Non-Finnish) - North West European Ancestry"},"an_nfe_onf":{"type":"integer","required":false,"read_only":false,"label":"Allele Number European (Non-Finnish) - Other Non Finnish Ancestry"},"an_nfe_seu":{"type":"integer","required":false,"read_only":false,"label":"Allele Number European (Non-Finnish) - Southern European Ancestry"},"an_nfe_swe":{"type":"integer","required":false,"read_only":false,"label":"Allele Number European (Non-Finnish) - Swedish Ancestry"},"an_oth":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Other"},"an_sas":{"type":"integer","required":false,"read_only":false,"label":"Allele Number South Asian"},"an_afr_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Number African Male"},"an_amr_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Latino Male"},"an_ami_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Amish Male"},"an_asj_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Ashkenazi Jewish Male"},"an_eas_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Number East Asian Male"},"an_fin_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Number European (Finnish) Male"},"an_nfe_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Number European (Non-Finnish) Male"},"an_mid_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Middle Eastern Male"},"an_oth_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Other Male"},"an_sas_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Number South Asian Male"},"an_afr_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Number African Female"},"an_amr_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Latino Female"},"an_ami_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Amish Female"},"an_asj_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Ashkenazi Jewish Female"},"an_eas_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Number East Asian Female"},"an_fin_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Number European (Finnish) Female"},"an_nfe_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Number European (Non-Finnish) Female"},"an_mid_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Middle Eastern Female"},"an_oth_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Other Female"},"an_sas_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Number South Asian Female"},"an_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Male"},"an_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Female"},"nhomalt":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes"},"nhomalt_afr":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes African"},"nhomalt_amr":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes Latino"},"nhomalt_ami":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes Amish"},"nhomalt_asj":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes Ashkenazi Jewish"},"nhomalt_eas":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes East Asian"},"nhomalt_eas_kor":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes East Asian - Korean Ancestry"},"nhomalt_eas_jpn":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes East Asian - Japanese Ancestry"},"nhomalt_eas_oea":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes East Asian - Other East Asian Ancestry"},"nhomalt_fin":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes European (Finnish)"},"nhomalt_nfe":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes European (Non-Finnish)"},"nhomalt_mid":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes Middle Eastern"},"nhomalt_nfe_bgr":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes European (Non-Finnish) - Bulgarian Ancestry"},"nhomalt_nfe_est":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes European (Non-Finnish) - Estonian Ancestry"},"nhomalt_nfe_nwe":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes European (Non-Finnish) - North West European Ancestry"},"nhomalt_nfe_onf":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes European (Non-Finnish) - Other Non Finnish Ancestry"},"nhomalt_nfe_seu":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes European (Non-Finnish) - Southern European Ancestry"},"nhomalt_nfe_swe":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes European (Non-Finnish) - Swedish Ancestry"},"nhomalt_oth":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes Other"},"nhomalt_sas":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes South Asian"},"nhomalt_afr_male":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes African Male"},"nhomalt_amr_male":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes Latino Male"},"nhomalt_ami_male":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes Amish Male"},"nhomalt_asj_male":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes Ashkenazi Jewish Male"},"nhomalt_eas_male":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes East Asian Male"},"nhomalt_fin_male":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes European (Finnish) Male"},"nhomalt_nfe_male":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes European (Non-Finnish) Male"},"nhomalt_mid_male":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes Middle Eastern Male"},"nhomalt_oth_male":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes Other Male"},"nhomalt_sas_male":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes South Asian Male"},"nhomalt_afr_female":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes African Female"},"nhomalt_amr_female":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes Latino Female"},"nhomalt_ami_female":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes Amish Female"},"nhomalt_asj_female":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes Ashkenazi Jewish Female"},"nhomalt_eas_female":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes East Asian Female"},"nhomalt_fin_female":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes European (Finnish) Female"},"nhomalt_nfe_female":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes European (Non-Finnish) Female"},"nhomalt_mid_female":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes Middle Eastern Female"},"nhomalt_oth_female":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes Other Female"},"nhomalt_sas_female":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes South Asian Female"},"nhomalt_male":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes Male"},"nhomalt_female":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes Female"},"age_hist_het_under_30":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Heterozygous Under 30"},"age_hist_het_30_35":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Heterozygous 30-35"},"age_hist_het_35_40":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Heterozygous 35-40"},"age_hist_het_40_45":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Heterozygous 40-45"},"age_hist_het_45_50":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Heterozygous 45-50"},"age_hist_het_50_55":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Heterozygous 50-55"},"age_hist_het_55_60":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Heterozygous 55-60"},"age_hist_het_60_65":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Heterozygous 60-65"},"age_hist_het_65_70":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Heterozygous 65-70"},"age_hist_het_70_75":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Heterozygous 70-75"},"age_hist_het_75_80":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Heterozygous 75-80"},"age_hist_het_over_80":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Heterozygous Over 80"},"age_hist_hom_under_30":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Homozygous Under 30"},"age_hist_hom_30_35":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Homozygous 30-35"},"age_hist_hom_35_40":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Homozygous 35-40"},"age_hist_hom_40_45":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Homozygous 40-45"},"age_hist_hom_45_50":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Homozygous 45-50"},"age_hist_hom_50_55":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Homozygous 50-55"},"age_hist_hom_55_60":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Homozygous 55-60"},"age_hist_hom_60_65":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Homozygous 60-65"},"age_hist_hom_65_70":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Homozygous 65-70"},"age_hist_hom_70_75":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Homozygous 70-75"},"age_hist_hom_75_80":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Homozygous 75-80"},"age_hist_hom_over_80":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Homozygous Over 80"},"variant_type":{"type":"string","required":false,"read_only":false,"label":"Variant type","help_text":"Only populated for multi-variants, possible values are: multi-snv, multi-indel, or mixed"},"segdup":{"type":"boolean","required":false,"read_only":false,"label":"Segmental duplication region","help_text":"is set if the variant falls within a segmental duplication region"},"lcr":{"type":"boolean","required":false,"read_only":false,"label":"Low complexity region"},"original_variant":{"type":"string","required":false,"read_only":false,"label":"Original variant"},"main_data":{"type":"string","required":false,"read_only":false,"label":"Main data point"},"nonpar":{"type":"integer","required":false,"read_only":false,"label":"Variant (on sex chromosome) falls outside a pseudoautosomal region"}}}},"gnomad_exomes_coverage":{"type":"array","title":"gnomAD exomes coverage","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"coverage_mean":{"type":"list","required":false,"read_only":false,"label":"Mean coverage","items":{"type":"field"}},"coverage_median":{"type":"list","required":false,"read_only":false,"label":"Median coverage","items":{"type":"field"}},"coverage_20_frequency":{"type":"list","required":false,"read_only":false,"label":"Proportion of samples with over 20x","items":{"type":"field"}}}}},"gnomad_genomes":{"type":"array","title":"gnomAD Genomes","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"filter":{"type":"string","required":false,"read_only":false,"label":"Filter"},"ac":{"type":"integer","required":false,"read_only":false,"label":"Allele Count"},"an":{"type":"integer","required":false,"read_only":false,"label":"Allele Number"},"af":{"type":"field","required":false,"read_only":true,"label":"Allele Frequency"},"ac_afr":{"type":"integer","required":false,"read_only":false,"label":"Allele Count African"},"ac_amr":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Latino"},"ac_ami":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Amish"},"ac_asj":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Ashkenazi Jewish"},"ac_eas":{"type":"integer","required":false,"read_only":false,"label":"Allele Count East Asian"},"ac_eas_kor":{"type":"integer","required":false,"read_only":false,"label":"Allele Count East Asian - Korean Ancestry"},"ac_eas_jpn":{"type":"integer","required":false,"read_only":false,"label":"Allele Count East Asian - Japanese Ancestry"},"ac_eas_oea":{"type":"integer","required":false,"read_only":false,"label":"Allele Count East Asian - Other East Asian Ancestry"},"ac_fin":{"type":"integer","required":false,"read_only":false,"label":"Allele Count European (Finnish)"},"ac_nfe":{"type":"integer","required":false,"read_only":false,"label":"Allele Count European (Non-Finnish)"},"ac_mid":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Middle Eastern"},"ac_nfe_bgr":{"type":"integer","required":false,"read_only":false,"label":"Allele Count European (Non-Finnish) - Bulgarian Ancestry"},"ac_nfe_est":{"type":"integer","required":false,"read_only":false,"label":"Allele Count European (Non-Finnish) - Estonian Ancestry"},"ac_nfe_nwe":{"type":"integer","required":false,"read_only":false,"label":"Allele Count European (Non-Finnish) - North West European Ancestry"},"ac_nfe_onf":{"type":"integer","required":false,"read_only":false,"label":"Allele Count European (Non-Finnish) - Other Non Finnish Ancestry"},"ac_nfe_seu":{"type":"integer","required":false,"read_only":false,"label":"Allele Count European (Non-Finnish) - Southern European Ancestry"},"ac_nfe_swe":{"type":"integer","required":false,"read_only":false,"label":"Allele Count European (Non-Finnish) - Swedish Ancestry"},"ac_oth":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Other"},"ac_sas":{"type":"integer","required":false,"read_only":false,"label":"Allele Count South Asian"},"ac_afr_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Count African Male"},"ac_amr_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Latino Male"},"ac_ami_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Amish Male"},"ac_asj_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Ashkenazi Jewish Male"},"ac_eas_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Count East Asian Male"},"ac_fin_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Count European (Finnish) Male"},"ac_nfe_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Count European (Non-Finnish) Male"},"ac_mid_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Middle Eastern Male"},"ac_oth_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Other Male"},"ac_sas_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Count South Asian Male"},"ac_afr_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Count African Female"},"ac_amr_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Latino Female"},"ac_ami_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Amish Female"},"ac_asj_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Ashkenazi Jewish Female"},"ac_eas_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Count East Asian Female"},"ac_fin_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Count European (Finnish) Female"},"ac_nfe_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Count European (Non-Finnish) Female"},"ac_mid_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Middle Eastern Female"},"ac_oth_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Other Female"},"ac_sas_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Count South Asian Female"},"ac_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Male"},"ac_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Female"},"an_afr":{"type":"integer","required":false,"read_only":false,"label":"Allele Number African"},"an_amr":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Latino"},"an_ami":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Amish"},"an_asj":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Ashkenazi Jewish"},"an_eas":{"type":"integer","required":false,"read_only":false,"label":"Allele Number East Asian"},"an_eas_kor":{"type":"integer","required":false,"read_only":false,"label":"Allele Number East Asian - Korean Ancestry"},"an_eas_jpn":{"type":"integer","required":false,"read_only":false,"label":"Allele Number East Asian - Japansese Ancestry"},"an_eas_oea":{"type":"integer","required":false,"read_only":false,"label":"Allele Number East Asian - Other East Asian Ancestry"},"an_fin":{"type":"integer","required":false,"read_only":false,"label":"Allele Number European (Finnish)"},"an_nfe":{"type":"integer","required":false,"read_only":false,"label":"Allele Number European (Non-Finnish)"},"an_mid":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Middle Eastern"},"an_nfe_bgr":{"type":"integer","required":false,"read_only":false,"label":"Allele Number European (Non-Finnish) - Bulgarian Ancestry"},"an_nfe_est":{"type":"integer","required":false,"read_only":false,"label":"Allele Number European (Non-Finnish) - Estonian Ancestry"},"an_nfe_nwe":{"type":"integer","required":false,"read_only":false,"label":"Allele Number European (Non-Finnish) - North West European Ancestry"},"an_nfe_onf":{"type":"integer","required":false,"read_only":false,"label":"Allele Number European (Non-Finnish) - Other Non Finnish Ancestry"},"an_nfe_seu":{"type":"integer","required":false,"read_only":false,"label":"Allele Number European (Non-Finnish) - Southern European Ancestry"},"an_nfe_swe":{"type":"integer","required":false,"read_only":false,"label":"Allele Number European (Non-Finnish) - Swedish Ancestry"},"an_oth":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Other"},"an_sas":{"type":"integer","required":false,"read_only":false,"label":"Allele Number South Asian"},"an_afr_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Number African Male"},"an_amr_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Latino Male"},"an_ami_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Amish Male"},"an_asj_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Ashkenazi Jewish Male"},"an_eas_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Number East Asian Male"},"an_fin_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Number European (Finnish) Male"},"an_nfe_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Number European (Non-Finnish) Male"},"an_mid_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Middle Eastern Male"},"an_oth_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Other Male"},"an_sas_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Number South Asian Male"},"an_afr_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Number African Female"},"an_amr_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Latino Female"},"an_ami_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Amish Female"},"an_asj_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Ashkenazi Jewish Female"},"an_eas_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Number East Asian Female"},"an_fin_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Number European (Finnish) Female"},"an_nfe_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Number European (Non-Finnish) Female"},"an_mid_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Middle Eastern Female"},"an_oth_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Other Female"},"an_sas_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Number South Asian Female"},"an_male":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Male"},"an_female":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Female"},"nhomalt":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes"},"nhomalt_afr":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes African"},"nhomalt_amr":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes Latino"},"nhomalt_ami":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes Amish"},"nhomalt_asj":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes Ashkenazi Jewish"},"nhomalt_eas":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes East Asian"},"nhomalt_eas_kor":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes East Asian - Korean Ancestry"},"nhomalt_eas_jpn":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes East Asian - Japanese Ancestry"},"nhomalt_eas_oea":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes East Asian - Other East Asian Ancestry"},"nhomalt_fin":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes European (Finnish)"},"nhomalt_nfe":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes European (Non-Finnish)"},"nhomalt_mid":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes Middle Eastern"},"nhomalt_nfe_bgr":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes European (Non-Finnish) - Bulgarian Ancestry"},"nhomalt_nfe_est":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes European (Non-Finnish) - Estonian Ancestry"},"nhomalt_nfe_nwe":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes European (Non-Finnish) - North West European Ancestry"},"nhomalt_nfe_onf":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes European (Non-Finnish) - Other Non Finnish Ancestry"},"nhomalt_nfe_seu":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes European (Non-Finnish) - Southern European Ancestry"},"nhomalt_nfe_swe":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes European (Non-Finnish) - Swedish Ancestry"},"nhomalt_oth":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes Other"},"nhomalt_sas":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes South Asian"},"nhomalt_afr_male":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes African Male"},"nhomalt_amr_male":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes Latino Male"},"nhomalt_ami_male":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes Amish Male"},"nhomalt_asj_male":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes Ashkenazi Jewish Male"},"nhomalt_eas_male":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes East Asian Male"},"nhomalt_fin_male":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes European (Finnish) Male"},"nhomalt_nfe_male":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes European (Non-Finnish) Male"},"nhomalt_mid_male":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes Middle Eastern Male"},"nhomalt_oth_male":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes Other Male"},"nhomalt_sas_male":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes South Asian Male"},"nhomalt_afr_female":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes African Female"},"nhomalt_amr_female":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes Latino Female"},"nhomalt_ami_female":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes Amish Female"},"nhomalt_asj_female":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes Ashkenazi Jewish Female"},"nhomalt_eas_female":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes East Asian Female"},"nhomalt_fin_female":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes European (Finnish) Female"},"nhomalt_nfe_female":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes European (Non-Finnish) Female"},"nhomalt_mid_female":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes Middle Eastern Female"},"nhomalt_oth_female":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes Other Female"},"nhomalt_sas_female":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes South Asian Female"},"nhomalt_male":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes Male"},"nhomalt_female":{"type":"integer","required":false,"read_only":false,"label":"Number of Homozygotes Female"},"age_hist_het_under_30":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Heterozygous Under 30"},"age_hist_het_30_35":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Heterozygous 30-35"},"age_hist_het_35_40":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Heterozygous 35-40"},"age_hist_het_40_45":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Heterozygous 40-45"},"age_hist_het_45_50":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Heterozygous 45-50"},"age_hist_het_50_55":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Heterozygous 50-55"},"age_hist_het_55_60":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Heterozygous 55-60"},"age_hist_het_60_65":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Heterozygous 60-65"},"age_hist_het_65_70":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Heterozygous 65-70"},"age_hist_het_70_75":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Heterozygous 70-75"},"age_hist_het_75_80":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Heterozygous 75-80"},"age_hist_het_over_80":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Heterozygous Over 80"},"age_hist_hom_under_30":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Homozygous Under 30"},"age_hist_hom_30_35":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Homozygous 30-35"},"age_hist_hom_35_40":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Homozygous 35-40"},"age_hist_hom_40_45":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Homozygous 40-45"},"age_hist_hom_45_50":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Homozygous 45-50"},"age_hist_hom_50_55":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Homozygous 50-55"},"age_hist_hom_55_60":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Homozygous 55-60"},"age_hist_hom_60_65":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Homozygous 60-65"},"age_hist_hom_65_70":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Homozygous 65-70"},"age_hist_hom_70_75":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Homozygous 70-75"},"age_hist_hom_75_80":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Homozygous 75-80"},"age_hist_hom_over_80":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Homozygous Over 80"},"variant_type":{"type":"string","required":false,"read_only":false,"label":"Variant type","help_text":"Only populated for multi-variants, possible values are: multi-snv, multi-indel, or mixed"},"segdup":{"type":"boolean","required":false,"read_only":false,"label":"Segmental duplication region","help_text":"is set if the variant falls within a segmental duplication region"},"lcr":{"type":"boolean","required":false,"read_only":false,"label":"Low complexity region"},"original_variant":{"type":"string","required":false,"read_only":false,"label":"Original variant"},"main_data":{"type":"string","required":false,"read_only":false,"label":"Main data point"},"nonpar":{"type":"integer","required":false,"read_only":false,"label":"Variant (on sex chromosome) falls outside a pseudoautosomal region"}}}},"gnomad_genomes_coverage":{"type":"array","title":"gnomAD genomes coverage","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"coverage_mean":{"type":"list","required":false,"read_only":false,"label":"Mean coverage","items":{"type":"field"}},"coverage_median":{"type":"list","required":false,"read_only":false,"label":"Median coverage","items":{"type":"field"}},"coverage_20_frequency":{"type":"list","required":false,"read_only":false,"label":"Proportion of samples with over 20x","items":{"type":"field"}}}}},"thousand_genomes":{"type":"array","title":"1000 Genomes","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"ac":{"type":"list","required":false,"read_only":false,"label":"Allele Count","items":{"type":"integer"}},"af":{"type":"list","required":false,"read_only":false,"label":"Allele Frequency","items":{"type":"float"}},"an":{"type":"list","required":false,"read_only":false,"label":"Allele Number","items":{"type":"integer"}},"ns":{"type":"list","required":false,"read_only":false,"label":"Number of Samples","items":{"type":"integer"}},"afr_af":{"type":"list","required":false,"read_only":false,"label":"Allele Frequency African","items":{"type":"float"}},"amr_af":{"type":"list","required":false,"read_only":false,"label":"Allele Frequency American","items":{"type":"float"}},"eas_af":{"type":"list","required":false,"read_only":false,"label":"Allele Frequency East Asian","items":{"type":"float"}},"eur_af":{"type":"list","required":false,"read_only":false,"label":"Allele Frequency European","items":{"type":"float"}},"sas_af":{"type":"list","required":false,"read_only":false,"label":"Allele Frequency South Asian","items":{"type":"float"}},"main_data":{"type":"string","required":false,"read_only":false,"label":"Main data point"}}}},"gerp":{"type":"array","title":"GERP","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"gerp_nr":{"type":"list","required":false,"read_only":false,"label":"GERP NR","items":{"type":"float"}},"gerp_rs":{"type":"list","required":false,"read_only":false,"label":"GERP RS","items":{"type":"float"}}}}},"isb_kaviar3":{"type":"array","title":"ISB Kaviar3","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"ac":{"type":"list","required":false,"read_only":false,"label":"ac","items":{"type":"integer"}},"an":{"type":"list","required":false,"read_only":false,"label":"an","items":{"type":"integer"}},"main_data":{"type":"string","required":false,"read_only":false,"label":"Main data point"}}}},"dbnsfp":{"type":"array","title":"dbNSFP","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"ensembl_proteinid":{"type":"list","required":false,"read_only":false,"label":"Ensembl Protein ID","items":{"type":"string"}},"ensembl_transcriptid":{"type":"list","required":false,"read_only":false,"label":"Ensembl Transcript ID","items":{"type":"string"}},"mutationtaster_pred":{"type":"list","required":false,"read_only":false,"label":"MutationTaster Prediction","items":{"type":"string"}},"mutationtaster_score":{"type":"list","required":false,"read_only":false,"label":"MutationTaster Accuracy","items":{"type":"float"}},"sift_score":{"type":"list","required":false,"read_only":false,"label":"SIFT score","items":{"type":"float"}},"sift_pred":{"type":"list","required":false,"read_only":false,"label":"SIFT prediction","items":{"type":"string"}},"phylop100way_vertebrate":{"type":"list","required":false,"read_only":false,"label":"phyloP100way vertebrate","items":{"type":"float"}},"phylop46way_placental":{"type":"list","required":false,"read_only":false,"label":"phyloP46way placental","items":{"type":"float"}},"phylop46way_primate":{"type":"list","required":false,"read_only":false,"label":"phyloP46way primate","items":{"type":"float"}},"mutationtaster_converted_rankscore":{"type":"list","required":false,"read_only":false,"label":"MutationTaster converted rankscore","items":{"type":"float"}},"mutationassessor_pred":{"type":"list","required":false,"read_only":false,"label":"MutationAssessor prediction","items":{"type":"string"}},"mutationassessor_score":{"type":"list","required":false,"read_only":false,"label":"MutationAssessor score","items":{"type":"float"}},"mutationassessor_rankscore":{"type":"list","required":false,"read_only":false,"label":"MutationAssessor rankscore","items":{"type":"float"}},"fathmm_mkl_coding_pred":{"type":"list","required":false,"read_only":false,"label":"FATHMM-MKL coding prediction","items":{"type":"string"}},"fathmm_mkl_coding_score":{"type":"list","required":false,"read_only":false,"label":"FATHMM-MKL coding score","items":{"type":"float"}},"fathmm_mkl_coding_rankscore":{"type":"list","required":false,"read_only":false,"label":"FATHMM-MKL coding rankscore","items":{"type":"float"}},"fathmm_pred":{"type":"list","required":false,"read_only":false,"label":"FATHMM prediction","items":{"type":"string"}},"fathmm_score":{"type":"list","required":false,"read_only":false,"label":"FATHMM score","items":{"type":"float"}},"fathmm_converted_rankscore":{"type":"list","required":false,"read_only":false,"label":"FATHMM converted rankscore","items":{"type":"float"}},"sift_converted_rankscore":{"type":"list","required":false,"read_only":false,"label":"SIFT converted rankscore","items":{"type":"float"}},"metasvm_pred":{"type":"list","required":false,"read_only":false,"label":"MetaSVM prediction","items":{"type":"string"}},"metasvm_score":{"type":"list","required":false,"read_only":false,"label":"MetaSVM score","items":{"type":"float"}},"metasvm_rankscore":{"type":"list","required":false,"read_only":false,"label":"MetaSVM rankscore","items":{"type":"float"}},"metalr_pred":{"type":"list","required":false,"read_only":false,"label":"MetalR prediction","items":{"type":"string"}},"metalr_score":{"type":"list","required":false,"read_only":false,"label":"MetalR score","items":{"type":"float"}},"metalr_rankscore":{"type":"list","required":false,"read_only":false,"label":"MetalR rankscore","items":{"type":"float"}},"provean_pred":{"type":"list","required":false,"read_only":false,"label":"Provean prediction","items":{"type":"string"}},"provean_score":{"type":"list","required":false,"read_only":false,"label":"Provean score","items":{"type":"float"}},"provean_converted_rankscore":{"type":"list","required":false,"read_only":false,"label":"Provean converted rankscore","items":{"type":"float"}},"lrt_pred":{"type":"list","required":false,"read_only":false,"label":"LRT prediction","items":{"type":"string"}},"lrt_score":{"type":"list","required":false,"read_only":false,"label":"LRT score","items":{"type":"float"}},"lrt_converted_rankscore":{"type":"list","required":false,"read_only":false,"label":"LRT converted rankscore","items":{"type":"float"}},"lrt_omega":{"type":"list","required":false,"read_only":false,"label":"LRT Omega","items":{"type":"float"}},"cadd_raw":{"type":"list","required":false,"read_only":false,"label":"CADD raw score","items":{"type":"float"}},"cadd_raw_rankscore":{"type":"list","required":false,"read_only":false,"label":"CADD raw rankscore","items":{"type":"float"}},"cadd_phred":{"type":"list","required":false,"read_only":false,"label":"CADD phred","items":{"type":"float"}},"gm12878_confidence_value":{"type":"list","required":false,"read_only":false,"label":"GM12878 fitCons confidence value","items":{"type":"float"}},"gm12878_fitcons_score":{"type":"list","required":false,"read_only":false,"label":"GM12878 fitCons score","items":{"type":"float"}},"gm12878_fitcons_rankscore":{"type":"list","required":false,"read_only":false,"label":"GM12878 fitCons rankscore","items":{"type":"float"}},"siphy_29way_logodds_rankscore":{"type":"list","required":false,"read_only":false,"label":"SiPhy29way logOdds rankscore","items":{"type":"float"}},"siphy_29way_pi":{"type":"list","required":false,"read_only":false,"label":"SiPhy29way pi","items":{"type":"float"}},"siphy_29way_logodds":{"type":"float","required":false,"read_only":false,"label":"SiPhy29way logOdds"},"phylop20way_mammalian":{"type":"list","required":false,"read_only":false,"label":"phyloP20way mammalian","items":{"type":"float"}},"phylop20way_mammalian_rankscore":{"type":"list","required":false,"read_only":false,"label":"phyloP20way mammalian rankscore","items":{"type":"float"}},"phylop100way_vertebrate_rankscore":{"type":"list","required":false,"read_only":false,"label":"phyloP100way vertebrate rankscore","items":{"type":"float"}},"phastcons20way_mammalian":{"type":"list","required":false,"read_only":false,"label":"phastCons20way mammalian","items":{"type":"float"}},"phastcons20way_mammalian_rankscore":{"type":"list","required":false,"read_only":false,"label":"phastCons20way mammalian rankscore","items":{"type":"float"}},"phastcons100way_vertebrate":{"type":"list","required":false,"read_only":false,"label":"phastCons100way vertebrate","items":{"type":"float"}},"phastcons100way_vertebrate_rankscore":{"type":"list","required":false,"read_only":false,"label":"phastCons100way vertebrate rankscore","items":{"type":"float"}},"vest3_score":{"type":"list","required":false,"read_only":false,"label":"VEST3 score","items":{"type":"float"}},"vest3_rankscore":{"type":"list","required":false,"read_only":false,"label":"VEST3 rankscore","items":{"type":"float"}},"aloft_confidence":{"type":"list","required":false,"read_only":false,"label":"ALoFT confidence","items":{"type":"string"}},"aloft_fraction_transcripts_affected":{"type":"list","required":false,"read_only":false,"label":"ALoFT Fraction transcripts affected","items":{"type":"string"}},"aloft_pred":{"type":"list","required":false,"read_only":false,"label":"ALoFT prediction","items":{"type":"string"}},"aloft_prob_dominant":{"type":"list","required":false,"read_only":false,"label":"ALoFT probability dominant","items":{"type":"float"}},"aloft_prob_recessive":{"type":"list","required":false,"read_only":false,"label":"ALoFT probability recessive","items":{"type":"float"}},"aloft_prob_tolerant":{"type":"list","required":false,"read_only":false,"label":"ALoFT probability tolerant","items":{"type":"float"}},"bstatistic":{"type":"float","required":false,"read_only":false,"label":"bStatistic value"},"bstatistic_rankscore":{"type":"float","required":false,"read_only":false,"label":"bStatistic rankscore"},"deogen2_pred":{"type":"list","required":false,"read_only":false,"label":"DEOGEN2 prediction","items":{"type":"string"}},"deogen2_rankscore":{"type":"float","required":false,"read_only":false,"label":"DEOGEN2 rankscore"},"deogen2_score":{"type":"list","required":false,"read_only":false,"label":"DEOGEN2 score","items":{"type":"float"}},"eigen_pc_phred_coding":{"type":"float","required":false,"read_only":false,"label":"Eigen PC phred coding score"},"eigen_pc_raw_coding":{"type":"float","required":false,"read_only":false,"label":"Eigen PC raw coding score"},"eigen_pc_raw_coding_rankscore":{"type":"float","required":false,"read_only":false,"label":"Eigen PC raw coding rankscore"},"eigen_pred_coding":{"type":"float","required":false,"read_only":false,"label":"Eigen pred coding score"},"eigen_raw_coding":{"type":"float","required":false,"read_only":false,"label":"Eigen raw coding"},"eigen_raw_coding_rankscore":{"type":"float","required":false,"read_only":false,"label":"Eigen raw coding rankscore"},"fathmm_xf_coding_score":{"type":"float","required":false,"read_only":false,"label":"FATHMM-XF coding score"},"fathmm_xf_coding_rankscore":{"type":"float","required":false,"read_only":false,"label":"FATHMM-XF coding rankscore"},"fathmm_xf_coding_pred":{"type":"list","required":false,"read_only":false,"label":"FATHMM-XF coding prediction","items":{"type":"string"}},"integrated_confidence_value":{"type":"integer","required":false,"read_only":false,"label":"Integrated confidence value"},"integrated_fitcons_score":{"type":"float","required":false,"read_only":false,"label":"Integrated fitCons score"},"integrated_fitcons_rankscore":{"type":"float","required":false,"read_only":false,"label":"Integrated fitCons rankscore"},"h1_hesc_confidence_value":{"type":"integer","required":false,"read_only":false,"label":"H1-hESC confidence value"},"h1_hesc_fitcons_score":{"type":"float","required":false,"read_only":false,"label":"H1-hESC fitCons score"},"h1_hesc_fitcons_rankscore":{"type":"float","required":false,"read_only":false,"label":"H1-hESC fitCons rankscore"},"huvec_confidence_value":{"type":"integer","required":false,"read_only":false,"label":"HUVEC confidence value"},"huvec_fitcons_score":{"type":"float","required":false,"read_only":false,"label":"HUVEC fitCons score"},"huvec_fitcons_rankscore":{"type":"float","required":false,"read_only":false,"label":"HUVEC fitCons rankscore"},"phylop17way_primate":{"type":"float","required":false,"read_only":false,"label":"phyloP17way primate"},"phylop17way_primate_rankscore":{"type":"float","required":false,"read_only":false,"label":"phyloP17way primate rankscore"},"phylop30way_mammalian":{"type":"float","required":false,"read_only":false,"label":"phyloP30way mammalian"},"phylop30way_mammalian_rankscore":{"type":"float","required":false,"read_only":false,"label":"phyloP30way mammalian rankscore"},"phastcons17way_primate":{"type":"float","required":false,"read_only":false,"label":"phastCons17way primate"},"phastcons17way_primate_rankscore":{"type":"float","required":false,"read_only":false,"label":"phastCons17way primate rankscore"},"phastcons30way_mammalian":{"type":"float","required":false,"read_only":false,"label":"phastCons30way mammalian"},"phastcons30way_mammalian_rankscore":{"type":"float","required":false,"read_only":false,"label":"phastCons30way mammalian rankscore"},"polyphen2_hdiv_pred":{"type":"list","required":false,"read_only":false,"label":"Polyphen2-HDIV prediction","items":{"type":"string"}},"polyphen2_hdiv_rankscore":{"type":"float","required":false,"read_only":false,"label":"Polyphen2-HDIV rankscore"},"polyphen2_hdiv_score":{"type":"list","required":false,"read_only":false,"label":"Polyphen2-HDIV score","items":{"type":"float"}},"polyphen2_hvar_pred":{"type":"list","required":false,"read_only":false,"label":"Polyphen2-HVAR prediction","items":{"type":"string"}},"polyphen2_hvar_rankscore":{"type":"float","required":false,"read_only":false,"label":"Polyphen2-HVAR rankscore"},"polyphen2_hvar_score":{"type":"list","required":false,"read_only":false,"label":"Polyphen2-HVAR score","items":{"type":"float"}},"primateai_pred":{"type":"list","required":false,"read_only":false,"label":"PrimateAI prediction","items":{"type":"string"}},"primateai_score":{"type":"list","required":false,"read_only":false,"label":"PrimateAI score","items":{"type":"float"}},"primateai_rankscore":{"type":"list","required":false,"read_only":false,"label":"PrimateAI rankscore","items":{"type":"float"}},"mpc_score":{"type":"list","required":false,"read_only":false,"label":"MPC score","items":{"type":"float"}},"mpc_rankscore":{"type":"float","required":false,"read_only":false,"label":"MPC rankscore"},"mutpred_score":{"type":"list","required":false,"read_only":false,"label":"MutPred score","items":{"type":"float"}},"mutpred_rankscore":{"type":"float","required":false,"read_only":false,"label":"MutPred rankscore"},"mvp_score":{"type":"list","required":false,"read_only":false,"label":"MVP score","items":{"type":"float"}},"mvp_rankscore":{"type":"float","required":false,"read_only":false,"label":"MVP rankscore"},"sift4g_score":{"type":"list","required":false,"read_only":false,"label":"SIFT4G score","items":{"type":"float"}},"sift4g_converted_rankscore":{"type":"float","required":false,"read_only":false,"label":"SIFT4G converted rankscore"},"sift4g_pred":{"type":"list","required":false,"read_only":false,"label":"SIFT4G prediction","items":{"type":"string"}},"revel_score":{"type":"list","required":false,"read_only":false,"label":"REVEL score","items":{"type":"float"}},"revel_rankscore":{"type":"float","required":false,"read_only":false,"label":"REVEL rankscore"},"list_s2_pred":{"type":"list","required":false,"read_only":false,"label":"LIST-S2 prediction","items":{"type":"string"}},"list_s2_score":{"type":"list","required":false,"read_only":false,"label":"LIST-S2 score","items":{"type":"float"}},"list_s2_rankscore":{"type":"float","required":false,"read_only":false,"label":"LIST-S2 rankscore"},"bayesdel_addaf_pred":{"type":"list","required":false,"read_only":false,"label":"BayesDel addAF prediction","items":{"type":"string"}},"bayesdel_addaf_score":{"type":"float","required":false,"read_only":false,"label":"BayesDel addAF score"},"bayesdel_addaf_rankscore":{"type":"float","required":false,"read_only":false,"label":"BayesDel addAF rankscore"},"bayesdel_noaf_pred":{"type":"list","required":false,"read_only":false,"label":"BayesDel noAF prediction","items":{"type":"string"}},"bayesdel_noaf_score":{"type":"float","required":false,"read_only":false,"label":"BayesDel noAF score"},"bayesdel_noaf_rankscore":{"type":"float","required":false,"read_only":false,"label":"BayesDel noAF rankscore"},"metarnn_pred":{"type":"list","required":false,"read_only":false,"label":"MetaRNN prediction","items":{"type":"string"}},"metarnn_score":{"type":"list","required":false,"read_only":false,"label":"MetaRNN score","items":{"type":"float"}},"metarnn_rankscore":{"type":"float","required":false,"read_only":false,"label":"MetaRNN rankscore"},"m_cap_pred":{"type":"list","required":false,"read_only":false,"label":"M-CAP prediction","items":{"type":"string"}},"m_cap_score":{"type":"float","required":false,"read_only":false,"label":"M-CAP score"},"m_cap_rankscore":{"type":"float","required":false,"read_only":false,"label":"M-CAP rankscore"},"dann_score":{"type":"float","required":false,"read_only":false,"label":"DANN score"},"dann_rankscore":{"type":"float","required":false,"read_only":false,"label":"DANN rankscore"},"gmvp_score":{"type":"list","required":false,"read_only":false,"label":"gMVP score","items":{"type":"float"}},"gmvp_rankscore":{"type":"float","required":false,"read_only":false,"label":"gMVP rankscore"},"varity_r_score":{"type":"list","required":false,"read_only":false,"label":"VARITY-R score","items":{"type":"float"}},"varity_r_rankscore":{"type":"float","required":false,"read_only":false,"label":"VARITY-R rankscore"},"varity_er_score":{"type":"list","required":false,"read_only":false,"label":"VARITY-ER score","items":{"type":"float"}},"varity_er_rankscore":{"type":"float","required":false,"read_only":false,"label":"VARITY-ER rankscore"},"varity_r_loo_score":{"type":"list","required":false,"read_only":false,"label":"VARITY-R LOO score","items":{"type":"float"}},"varity_r_loo_rankscore":{"type":"float","required":false,"read_only":false,"label":"VARITY-R LOO rankscore"},"varity_er_loo_score":{"type":"list","required":false,"read_only":false,"label":"VARITY-ER LOO score","items":{"type":"float"}},"varity_er_loo_rankscore":{"type":"float","required":false,"read_only":false,"label":"VARITY-ER LOO rankscore"},"esm1b_score":{"type":"list","required":false,"read_only":false,"label":"ESM1b score","items":{"type":"float"}},"esm1b_converted_rankscore":{"type":"float","required":false,"read_only":false,"label":"ESM1b converted rankscore"},"esm1b_pred":{"type":"list","required":false,"read_only":false,"label":"ESM1b prediction","items":{"type":"string"}},"clinpred_score":{"type":"float","required":false,"read_only":false,"label":"ClinPred score"},"clinpred_rankscore":{"type":"float","required":false,"read_only":false,"label":"ClinPred rankscore"},"clinpred_pred":{"type":"list","required":false,"read_only":false,"label":"ClinPred prediction","items":{"type":"string"}},"phactboost_score":{"type":"list","required":false,"read_only":false,"label":"PHACTboost score","items":{"type":"float"}},"phactboost_rankscore":{"type":"float","required":false,"read_only":false,"label":"PHACTboost rankscore"},"mutpred2_score":{"type":"list","required":false,"read_only":false,"label":"MutPred2 score","items":{"type":"float"}},"mutpred2_rankscore":{"type":"float","required":false,"read_only":false,"label":"MutPred2 rankscore"},"mutpred2_pred":{"type":"list","required":false,"read_only":false,"label":"MutPred2 prediction","items":{"type":"string"}}}}},"dann_snvs":{"type":"array","title":"DANN score","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"dann_score":{"type":"float","required":false,"read_only":false,"label":"DANN Score"}}}},"dbnsfp_dbscsnv":{"type":"array","title":"dbNSFP dbscSNV","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"ada_score":{"type":"list","required":false,"read_only":false,"label":"ADA Score","items":{"type":"float"}},"rf_score":{"type":"list","required":false,"read_only":false,"label":"RF Score","items":{"type":"float"}}}}},"ncbi_dbsnp":{"type":"array","title":"dbSNP","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"rsid":{"type":"list","required":true,"read_only":false,"label":"RS ID","items":{"type":"integer"}}}}},"sanger_cosmic":{"type":"array","title":"Sanger Cosmic","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"primary_site":{"type":"list","required":false,"read_only":false,"label":"Primary site","items":{"type":"string"}},"pub_med_references":{"type":"list","required":false,"read_only":false,"label":"PUBMED References","items":{"type":"field"}}}}},"sanger_cosmic_public":{"type":"array","title":"Cosmic","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"items":{"type":"array","title":"Details","items":{"type":"object","properties":{"id":{"type":"string","required":true,"read_only":false,"label":"Cosmic ID"},"num_samples":{"type":"integer","required":false,"read_only":false,"label":"Number of samples"},"is_consistent":{"type":"boolean","required":false,"read_only":false,"label":"Is consistent"}}}}}}},"sanger_cosmic_licensed":{"type":"array","title":"Cosmic","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"items":{"type":"array","title":"Details","items":{"type":"object","properties":{"entry_type":{"type":"string","required":false,"read_only":false,"label":"Entry type"},"cosmic_id":{"type":"list","required":false,"read_only":false,"label":"Cosmic ID","items":{"type":"field"}},"pub_med_references":{"type":"list","required":false,"read_only":false,"label":"PUBMED References","items":{"type":"field"}},"legacy_cosmic_id":{"type":"list","required":false,"read_only":false,"label":"Legacy Cosmic ID","items":{"type":"string"}},"histology_freq":{"type":"list","required":false,"read_only":false,"label":"Histology frequency","items":{"type":"field"}},"genome_wide_screen_freq":{"type":"list","required":false,"read_only":false,"label":"Histology frequency","items":{"type":"field"}},"loh_freq":{"type":"list","required":false,"read_only":false,"label":"LOH frequency","items":{"type":"field"}},"age_freq":{"type":"list","required":false,"read_only":false,"label":"Age frequency","items":{"type":"field"}},"zygosity_freq":{"type":"list","required":false,"read_only":false,"label":"Zygosity frequency","items":{"type":"field"}},"tumour_origin_freq":{"type":"list","required":false,"read_only":false,"label":"Zygosity frequency","items":{"type":"field"}},"somatic_status_freq":{"type":"list","required":false,"read_only":false,"label":"Somatic status frequency","items":{"type":"field"}},"primary_site_freq":{"type":"list","required":false,"read_only":false,"label":"Primary site frequency","items":{"type":"field"}},"description":{"type":"list","required":false,"read_only":false,"label":"Description","items":{"type":"field"}},"accession_number":{"type":"list","required":false,"read_only":false,"label":"Accession number","items":{"type":"field"}},"fathmm_prediction":{"type":"string","required":false,"read_only":false,"label":"FATHMM prediction"},"fathmm_score":{"type":"float","required":false,"read_only":false,"label":"FATHMM score"},"num_entries":{"type":"integer","required":false,"read_only":false,"label":"Number of entries"},"num_samples":{"type":"integer","required":false,"read_only":false,"label":"Number of samples"},"gene":{"type":"list","required":false,"read_only":false,"label":"Gene","items":{"type":"field"}},"fathmm_mkl_coding_score":{"type":"float","required":false,"read_only":false,"label":"FATHMM_MKL coding score"},"fathmm_mkl_coding_groups":{"type":"string","required":false,"read_only":false,"label":"FATHMM_MKL coding groups"},"fathmm_mkl_non_coding_score":{"type":"float","required":false,"read_only":false,"label":"FATHMM_MKL non coding score"},"fathmm_mkl_non_coding_groups":{"type":"string","required":false,"read_only":false,"label":"FATHMM_MKL non coding groups"},"whole_exome_freq":{"type":"list","required":false,"read_only":false,"label":"Whole exome frequency","items":{"type":"field"}},"whole_genome_reseq_freq":{"type":"list","required":false,"read_only":false,"label":"Whole genome reseq frequency","items":{"type":"field"}},"resistance_mutation":{"type":"list","required":false,"read_only":false,"label":"Resistance mutation","items":{"type":"field"}},"drug_entries":{"type":"array","title":"Drug entries","items":{"type":"object","properties":{"drug_name":{"type":"string","required":false,"read_only":false,"label":"Drug name"},"somatic_status":{"type":"string","required":false,"read_only":false,"label":"Somatic status"},"zygosity":{"type":"string","required":false,"read_only":false,"label":"Zygosity"},"gene":{"type":"string","required":false,"read_only":false,"label":"Gene"},"transcript":{"type":"string","required":false,"read_only":false,"label":"Transcript"},"census_gene":{"type":"string","required":false,"read_only":false,"label":"Census gene"},"pub_med_references":{"type":"list","required":false,"read_only":false,"label":"PUBMED References","items":{"type":"field"}},"histology_freq":{"type":"list","required":false,"read_only":false,"label":"Histology frequency","items":{"type":"field"}},"tissue_freq":{"type":"list","required":false,"read_only":false,"label":"Tissue frequency","items":{"type":"field"}}}}}}}}}}},"ncbi_clinvar2":{"type":"array","title":"ClinVar2","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"review_status":{"type":"string","required":false,"read_only":false,"label":"Review status"},"review_stars":{"type":"integer","required":false,"read_only":false,"label":"Review stars"},"variation_id":{"type":"integer","required":false,"read_only":false,"label":"Variation ID"},"num_submitters":{"type":"integer","required":false,"read_only":false,"label":"Number of submitters"},"pub_med_references":{"type":"list","required":false,"read_only":false,"label":"PubMed references","items":{"type":"field"}},"clinical_significance":{"type":"list","required":false,"read_only":false,"label":"Clinical significance","items":{"type":"field"}},"last_evaluation":{"type":"string","required":false,"read_only":false,"label":"Last evaluation"},"origin":{"type":"list","required":false,"read_only":false,"label":"Origin","items":{"type":"field"}},"accessions":{"type":"list","required":false,"read_only":false,"label":"Accessions","items":{"type":"field"}},"main_data":{"type":"string","required":false,"read_only":false,"label":"Main data point"},"names":{"type":"list","required":false,"read_only":false,"label":"Names","items":{"type":"field"}},"variant_type":{"type":"string","required":false,"read_only":false,"label":"Variant type"}}}},"icgc_somatic":{"type":"array","title":"ICGC Somatic","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"affected_donors":{"type":"integer","required":false,"read_only":false,"label":"Affected Donors"},"mutation_id":{"type":"string","required":false,"read_only":false,"label":"Mutation ID"},"project_code":{"type":"array","title":"Project Code","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"project_count":{"type":"integer","required":false,"read_only":false,"label":"Project Count"},"tested_donors":{"type":"integer","required":false,"read_only":false,"label":"Project Count"},"total_donors":{"type":"integer","required":false,"read_only":false,"label":"Project Count"},"pub_med_references":{"type":"list","required":false,"read_only":false,"label":"PUBMED References","items":{"type":"field"}},"oncotree_code":{"type":"array","title":"Oncotree Code","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"cancer_name":{"type":"array","title":"Cancer Name","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"cancer_type":{"type":"array","title":"Cancer Type","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"tissue_type":{"type":"array","title":"Tissue Type","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}}}}},"iarc_tp53_germline":{"type":"array","title":"IARC TP53 Germline","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"sex":{"type":"array","title":"Sex","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"age_freq":{"type":"array","title":"Age Frequency","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"country":{"type":"array","title":"Country","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"hotspot":{"type":"boolean","required":false,"read_only":false,"label":"Hot Spot"},"effect":{"type":"string","required":false,"read_only":false,"label":"Effect"},"pub_med_references":{"type":"list","required":false,"read_only":false,"label":"PUBMED References","items":{"type":"field"}},"total_samples":{"type":"integer","required":true,"read_only":false,"label":"Total samples"},"oncotree_code":{"type":"array","title":"Oncotree Code","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"cancer_name":{"type":"array","title":"Cancer Name","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"cancer_type":{"type":"array","title":"Cancer Type","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"tissue_type":{"type":"array","title":"Tissue Type","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"patient":{"type":"array","title":"Patient","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"inheritance":{"type":"array","title":"Inheritance","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"germline_carrier":{"type":"array","title":"Germline Carrier","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"age_at_diagnosis":{"type":"array","title":"Age at Diagnosis","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"os_status":{"type":"array","title":"OS Status","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"unaffected":{"type":"boolean","required":false,"read_only":false,"label":"Unaffected"}}}},"iarc_tp53_somatic":{"type":"array","title":"IARC TP53 Somatic","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"sex":{"type":"array","title":"Sex","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"age_freq":{"type":"array","title":"Age Frequency","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"country":{"type":"array","title":"Country","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"hotspot":{"type":"boolean","required":false,"read_only":false,"label":"Hot Spot"},"effect":{"type":"string","required":false,"read_only":false,"label":"Effect"},"pub_med_references":{"type":"list","required":false,"read_only":false,"label":"PUBMED References","items":{"type":"field"}},"total_samples":{"type":"integer","required":true,"read_only":false,"label":"Total samples"},"oncotree_code":{"type":"array","title":"Oncotree Code","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"cancer_name":{"type":"array","title":"Cancer Name","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"cancer_type":{"type":"array","title":"Cancer Type","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"tissue_type":{"type":"array","title":"Tissue Type","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"structural_motif":{"type":"string","required":false,"read_only":false,"label":"Structural Motif"},"stage":{"type":"array","title":"Stage","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"grade":{"type":"array","title":"Grade","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"infectious_agent":{"type":"array","title":"Infectious Agent","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"sample_source":{"type":"array","title":"Sample Source","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"race":{"type":"array","title":"Race","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"mut_rate":{"type":"float","required":false,"read_only":false,"label":"Mutation Rate"}}}},"pub_med_articles":{"type":"nested object","required":false,"read_only":false,"label":"PUBMED Articles"},"publications":{"type":"nested object","required":false,"read_only":false,"label":"Publications"},"publication_counts":{"type":"list","required":false,"read_only":false,"label":"Publication Counts","items":{"type":"field"}},"uniprot_variants":{"type":"array","title":"UniProt variants","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"items":{"type":"array","title":"Details","items":{"type":"object","properties":{"annotation_id":{"type":"string","required":false,"read_only":false,"label":"Annotation ID"},"protein_id":{"type":"string","required":false,"read_only":false,"label":"Protein ID"},"proteinname":{"type":"string","required":false,"read_only":false,"label":"Protein name"},"somaticstatus":{"type":"string","required":false,"read_only":false,"label":"Somatic status"},"frequency":{"type":"float","required":false,"read_only":false,"label":"Frequency"},"gene":{"type":"string","required":false,"read_only":false,"label":"Gene"},"clinicalsignificances":{"type":"list","required":false,"read_only":false,"label":"Clinical significances","items":{"type":"field"}},"transcripts":{"type":"list","required":false,"read_only":false,"label":"Transcripts","items":{"type":"field"}},"association":{"type":"array","title":"Association","items":{"type":"object","properties":{"disease":{"type":"string","required":false,"read_only":false,"label":"Disease"},"disease_description":{"type":"string","required":false,"read_only":false,"label":"Disease description"},"disease_symbol":{"type":"string","required":false,"read_only":false,"label":"Disease symbol"},"disease_alt_symbol":{"type":"string","required":false,"read_only":false,"label":"Disease alt symbol"},"evidences":{"type":"object","title":"Evidences","properties":{"pub_med_references":{"type":"list","required":false,"read_only":false,"label":"PubMed References","items":{"type":"field"}},"cosmic_study":{"type":"list","required":false,"read_only":false,"label":"COSMIC study","items":{"type":"field"}}}}}}},"siftscore":{"type":"string","required":false,"read_only":false,"label":"SIFT score"},"siftprediction":{"type":"string","required":false,"read_only":false,"label":"SIFT prediction"},"polyphenscore":{"type":"string","required":false,"read_only":false,"label":"Polyphen score"},"polyphenprediction":{"type":"string","required":false,"read_only":false,"label":"Polyphen prediction"},"evidences":{"type":"object","title":"Disease alt symbol","properties":{"pub_med_references":{"type":"list","required":false,"read_only":false,"label":"PubMed References","items":{"type":"field"}},"cosmic_study":{"type":"list","required":false,"read_only":false,"label":"COSMIC study","items":{"type":"field"}}}},"xrefs":{"type":"nested object","required":false,"read_only":false,"label":"Xrefs"},"variant_type":{"type":"string","required":false,"read_only":false,"label":"Variant type"},"disease":{"type":"string","required":false,"read_only":false,"label":"Disease"},"disease_symbol":{"type":"string","required":false,"read_only":false,"label":"Disease symbol"},"disease_alt_symbol":{"type":"string","required":false,"read_only":false,"label":"Disease alt symbol"},"bed_comments":{"type":"field","required":false,"read_only":true,"label":"BED comments"},"pub_med_references":{"type":"list","required":false,"read_only":false,"label":"PubMed References","items":{"type":"field"}}}}}}}},"uoi_dvd":{"type":"array","title":"DVD","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"comment":{"type":"string","required":false,"read_only":false,"label":"Comments from curators"},"disease":{"type":"string","required":false,"read_only":false,"label":"Disease assocciated with variant"},"pathogenicity":{"type":"string","required":false,"read_only":false,"label":"Pathogenicity of variant"},"pub_med_references":{"type":"list","required":false,"read_only":false,"label":"Publications connected with variant","items":{"type":"field"}}}}},"weill_cornell_medicine_pmkb":{"type":"array","title":"PMKB","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"items":{"type":"array","title":"Details","items":{"type":"object","properties":{"tier":{"type":"integer","required":false,"read_only":false,"label":"Tier"},"definition":{"type":"list","required":false,"read_only":false,"label":"Definition","items":{"type":"field"}},"interpretations":{"type":"string","required":false,"read_only":false,"label":"Interpretations"},"tissues":{"type":"list","required":false,"read_only":false,"label":"Tissues","items":{"type":"field"}},"tumour_types":{"type":"list","required":false,"read_only":false,"label":"Tumour types","items":{"type":"field"}},"disease_or_trait":{"type":"string","required":false,"read_only":false,"label":"Disease or trait"},"pub_med_references":{"type":"list","required":false,"read_only":false,"label":"PubMed References","items":{"type":"field"}},"variants":{"type":"list","required":false,"read_only":false,"label":"Variants","items":{"type":"field"}}}}}}}},"wustl_civic":{"type":"array","title":"CIViC","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"items":{"type":"array","title":"Details","items":{"type":"object","properties":{"asco_entry":{"type":"object","title":"ASCO entry","properties":{"asco_citation_id":{"type":"string","required":false,"read_only":false,"label":"ASCO citation id"},"asco_abstract_id":{"type":"string","required":false,"read_only":false,"label":"ASCO absctract id"}}},"clinical_significance":{"type":"string","required":false,"read_only":false,"label":"Clinical significance"},"disease":{"type":"string","required":false,"read_only":false,"label":"Disease"},"doid":{"type":"string","required":false,"read_only":false,"label":"DOID"},"drug_interaction_type":{"type":"string","required":false,"read_only":false,"label":"Drug interaction type"},"drugs":{"type":"list","required":false,"read_only":false,"label":"Drugs","items":{"type":"string"}},"entrez_id":{"type":"string","required":false,"read_only":false,"label":"Entrez ID"},"evidence_civic_url":{"type":"string","required":false,"read_only":false,"label":"Evidence CIViC URL"},"evidence_direction":{"type":"string","required":false,"read_only":false,"label":"Evidence direction"},"evidence_level":{"type":"string","required":false,"read_only":false,"label":"Evidence level"},"evidence_statement":{"type":"string","required":false,"read_only":false,"label":"Evidence statement"},"evidence_status":{"type":"string","required":false,"read_only":false,"label":"Evidence status"},"evidence_type":{"type":"string","required":false,"read_only":false,"label":"Evidence type"},"gene":{"type":"string","required":false,"read_only":false,"label":"Gene"},"gene_civic_url":{"type":"string","required":false,"read_only":false,"label":"Gene CIViC URL"},"last_review_date":{"type":"string","required":false,"read_only":false,"label":"Last review date"},"nct_ids":{"type":"list","required":false,"read_only":false,"label":"NCT ids","items":{"type":"string"}},"normalized_drug":{"type":"list","required":false,"read_only":false,"label":"Drugs","items":{"type":"string"}},"phenotypes":{"type":"list","required":false,"read_only":false,"label":"Phenotypes","items":{"type":"string"}},"pub_med_references":{"type":"list","required":false,"read_only":false,"label":"PubMed References","items":{"type":"integer"}},"rating":{"type":"string","required":false,"read_only":false,"label":"Rating"},"representative_transcript":{"type":"string","required":false,"read_only":false,"label":"Representative transcript"},"transcripts":{"type":"list","required":false,"read_only":false,"label":"Transcripts","items":{"type":"field"}},"variant":{"type":"string","required":false,"read_only":false,"label":"Variant"},"variant_civic_url":{"type":"string","required":false,"read_only":false,"label":"Variant CIViC URL"},"variant_origin":{"type":"string","required":false,"read_only":false,"label":"Variant origin"},"variant_summary":{"type":"string","required":false,"read_only":false,"label":"Variant summary"},"assertion_details":{"type":"array","title":"Assertion details","items":{"type":"object","properties":{"amp_category":{"type":"string","required":false,"read_only":false,"label":"Amp Category"},"assertion_civic_url":{"type":"string","required":false,"read_only":false,"label":"Amp Category"},"assertion_description":{"type":"string","required":false,"read_only":false,"label":"Amp Category"},"assertion_direction":{"type":"string","required":false,"read_only":false,"label":"Amp Category"},"assertion_id":{"type":"string","required":false,"read_only":false,"label":"Amp Category"},"assertion_summary":{"type":"string","required":false,"read_only":false,"label":"Assertion summary"},"assertion_type":{"type":"string","required":false,"read_only":false,"label":"Assertion type"},"clinical_significance":{"type":"string","required":false,"read_only":false,"label":"Clinical significance"},"disease":{"type":"string","required":false,"read_only":false,"label":"Disease"},"doid":{"type":"string","required":false,"read_only":false,"label":"DOID"},"drugs":{"type":"list","required":false,"read_only":false,"label":"Drugs","items":{"type":"string"}},"evidence_item_ids":{"type":"list","required":false,"read_only":false,"label":"Evidence item ids","items":{"type":"string"}},"fda_companion_test":{"type":"boolean","required":false,"read_only":false,"label":"FDA companion test"},"gene":{"type":"string","required":false,"read_only":false,"label":"Gene"},"nccn_guideline":{"type":"string","required":false,"read_only":false,"label":"Nccn guideline"},"nccn_guideline_version":{"type":"string","required":false,"read_only":false,"label":"Nccn guideline version"},"normalized_drug":{"type":"list","required":false,"read_only":false,"label":"Normalized drugs","items":{"type":"string"}},"regulatory_approval":{"type":"boolean","required":false,"read_only":false,"label":"Regulatory approval"}}}},"civic_variant_evidence_score":{"type":"string","required":false,"read_only":false,"label":"Variant evidence score"},"variant_groups":{"type":"array","title":"Variant groups","items":{"type":"object","properties":{"group":{"type":"string","required":false,"read_only":false,"label":"Group"},"group_details":{"type":"object","title":"Group details","properties":{"description":{"type":"string","required":false,"read_only":false,"label":"Description"},"variant_group_civic_url":{"type":"string","required":false,"read_only":false,"label":"Variant group CIViC URL"}}}}}},"molecular_profile_civic_url":{"type":"string","required":false,"read_only":false,"label":"Molecular CIVic URL"},"molecular_profiles":{"type":"array","title":"Molecular Profiles","items":{"type":"object","properties":{"molecular_profile":{"type":"object","title":"Molecular Profile Details","properties":{"evidence_item_ids":{"type":"list","required":false,"read_only":false,"label":"Evidence Items IDs","items":{"type":"integer"}},"name":{"type":"string","required":false,"read_only":false,"label":"Name"},"summary":{"type":"string","required":false,"read_only":false,"label":"Summary"},"variant":{"type":"array","title":"Variant","items":{"type":"object","properties":{"gene":{"type":"string","required":false,"read_only":false,"label":"Gene"},"hgvs":{"type":"string","required":false,"read_only":false,"label":"HGVS"},"variant_ids":{"type":"list","required":false,"read_only":false,"label":"Variant IDs","items":{"type":"string"}}}}}}},"molecular_profile_civic_id":{"type":"integer","required":false,"read_only":false,"label":"Molecular CIVic Id"}}}}}}}}}},"gwas":{"type":"array","title":"GWAS","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"items":{"type":"array","title":"Details","items":{"type":"object","properties":{"gwas_symbol":{"type":"string","required":false,"read_only":false,"label":"GWAS symbol"},"date":{"type":"string","required":false,"read_only":false,"label":"Date"},"study":{"type":"string","required":false,"read_only":false,"label":"Study"},"disease_or_trait":{"type":"string","required":false,"read_only":false,"label":"Disease or trait"},"mapped_traits":{"type":"list","required":false,"read_only":false,"label":"Mapped trait","items":{"type":"field"}},"mapped_trait_urls":{"type":"list","required":false,"read_only":false,"label":"Mapped trait URL","items":{"type":"field"}},"strongest_snp_risk_allele":{"type":"string","required":false,"read_only":false,"label":"Strongest SNP risk allele"},"odds_ratio":{"type":"float","required":false,"read_only":false,"label":"Odds ratio"},"p_value":{"type":"string","required":false,"read_only":false,"label":"p value"},"confidence_range_95_low":{"type":"float","required":false,"read_only":false,"label":"Confidence range 95% low"},"confidence_range_95_high":{"type":"float","required":false,"read_only":false,"label":"Confidence range 95% high"},"confidence_comment":{"type":"string","required":false,"read_only":false,"label":"Confidence comment"},"initial_sample_size":{"type":"string","required":false,"read_only":false,"label":"Initial sample size"},"replication_sample_size":{"type":"string","required":false,"read_only":false,"label":"Replication sample size"},"pub_med_references":{"type":"list","required":false,"read_only":false,"label":"PubMed References","items":{"type":"field"}}}}}}}},"nih_gdc":{"type":"array","title":"NIH GDC","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"sex":{"type":"array","title":"Sex","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"age_freq":{"type":"array","title":"Age Frequency","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"os_status":{"type":"array","title":"Os Status","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"race":{"type":"array","title":"Race","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"tumor_status":{"type":"array","title":"Tumor Status","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"tumor_tissue_site":{"type":"array","title":"Tumor Tissue Site","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"path_t_stage":{"type":"array","title":"Path T Stage","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"path_n_stage":{"type":"array","title":"Path N Stage","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"path_m_stage":{"type":"array","title":"Path M Stage","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"clin_t_stage":{"type":"array","title":"Clin T Stage","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"clin_n_stage":{"type":"array","title":"Clin N Stage","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"clin_m_stage":{"type":"array","title":"Clin M Stage","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"ajcc_pathologic_tumor_stage":{"type":"array","title":"Ajcc Pathologic Tumor Stage","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"total_samples":{"type":"integer","required":false,"read_only":false,"label":"Total Samples"},"study_name":{"type":"array","title":"Study Name","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"prior_dx":{"type":"array","title":"Prior DX","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"drug":{"type":"array","title":"Drug","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"measure_of_response":{"type":"array","title":"Measure of Response","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"therapy_type":{"type":"array","title":"Therapy Type","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"route_of_administration":{"type":"array","title":"Route of Administration","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"therapy_ongoing":{"type":"array","title":"Therapy Ongoing","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"clinical_significance":{"type":"array","title":"Clinical Significance","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"pub_med_references":{"type":"list","required":false,"read_only":false,"label":"PUBMED References","items":{"type":"field"}},"oncotree_code":{"type":"array","title":"Oncotree Code","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"cancer_name":{"type":"array","title":"Cancer Name","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"cancer_type":{"type":"array","title":"Cancer Type","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"tissue_type":{"type":"array","title":"Tissue Type","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}}}}},"bravo":{"type":"array","title":"UMICH Bravo","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"filter":{"type":"string","required":false,"read_only":false,"label":"Filter"},"ac":{"type":"integer","required":false,"read_only":false,"label":"Alternate Allele Counts in Samples with Coverage"},"an":{"type":"integer","required":false,"read_only":false,"label":"Number of Alleles in Samples with Coverage"},"af":{"type":"float","required":false,"read_only":false,"label":"Alternate Allele Frequencies"},"het":{"type":"integer","required":false,"read_only":false,"label":"Number of samples with heterozygous genotype calls"},"hom":{"type":"integer","required":false,"read_only":false,"label":"Number of samples with homozygous alternate genotype calls"},"ns":{"type":"integer","required":false,"read_only":false,"label":"Number of Samples With Coverage"},"vrt":{"type":"integer","required":false,"read_only":false,"label":"Variation Type"},"main_data":{"type":"string","required":false,"read_only":false,"label":"Main data point"},"original_variant":{"type":"string","required":false,"read_only":false,"label":"Original variant"}}}},"saphetor_known_pathogenicity":{"type":"array","title":"Saphetor known pathogenicity","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"items":{"type":"array","title":"Details","items":{"type":"object","properties":{"annotations":{"type":"object","title":"Annotations","properties":{"ncbi_clinvar2":{"type":"array","title":"NCBI ClinVar2","items":{"type":"object","properties":{"functions":{"type":"list","required":false,"read_only":false,"label":"Functions","items":{"type":"string"}},"coding_impact":{"type":"string","required":false,"read_only":false,"label":"Coding impact"},"acmg_confirmed":{"type":"boolean","required":false,"read_only":false,"label":"ACMG confirmation flag"},"acmg_class":{"type":"string","required":false,"read_only":false,"label":"ACMG class"},"acmg_reannotated":{"type":"string","required":false,"read_only":false,"label":"ACMG reannotated"},"source":{"type":"string","required":false,"read_only":false,"label":"Source"},"codon":{"type":"integer","required":false,"read_only":false,"label":"Codon"},"gene_symbol":{"type":"string","required":false,"read_only":false,"label":"Gene symbol"},"hgvs":{"type":"string","required":false,"read_only":false,"label":"HGVS"},"transcript":{"type":"string","required":false,"read_only":false,"label":"Transcript"},"review_status":{"type":"string","required":false,"read_only":false,"label":"Review status"},"submission_count":{"type":"integer","required":false,"read_only":false,"label":"Submission count"},"review_stars":{"type":"integer","required":false,"read_only":false,"label":"Review stars"},"accession_count":{"type":"integer","required":false,"read_only":false,"label":"Accession count"},"publication_count":{"type":"integer","required":false,"read_only":false,"label":"Publication count"},"clinical_significance":{"type":"list","required":false,"read_only":false,"label":"Clinical significance","items":{"type":"string"}},"pub_med_references":{"type":"list","required":false,"read_only":false,"label":"PubMed references","items":{"type":"integer"}},"possible_functional_studies":{"type":"list","required":false,"read_only":false,"label":"Possible functional studies","items":{"type":"string"}},"disease_name":{"type":"list","required":false,"read_only":false,"label":"Disease names","items":{"type":"string"}},"is_conflicting":{"type":"boolean","required":false,"read_only":false,"label":"Is conflicting"},"submissions_b":{"type":"integer","required":false,"read_only":false,"label":"Submissions b"},"submissions_p":{"type":"integer","required":false,"read_only":false,"label":"Submissions p"},"submissions_vus":{"type":"integer","required":false,"read_only":false,"label":"Submissions vus"}}}},"saphetor_varsome_ai_variant":{"type":"array","title":"Saphetor VarSome AI Variant","items":{"type":"object","properties":{"functions":{"type":"list","required":false,"read_only":false,"label":"Functions","items":{"type":"string"}},"coding_impact":{"type":"string","required":false,"read_only":false,"label":"Coding impact"},"acmg_confirmed":{"type":"boolean","required":false,"read_only":false,"label":"ACMG confirmation flag"},"acmg_class":{"type":"string","required":false,"read_only":false,"label":"ACMG class"},"acmg_reannotated":{"type":"string","required":false,"read_only":false,"label":"ACMG reannotated"},"source":{"type":"string","required":false,"read_only":false,"label":"Source"},"codon":{"type":"integer","required":false,"read_only":false,"label":"Codon"},"gene_symbol":{"type":"string","required":false,"read_only":false,"label":"Gene symbol"},"hgvs":{"type":"string","required":false,"read_only":false,"label":"HGVS"},"transcript":{"type":"string","required":false,"read_only":false,"label":"Transcript"},"original_variant":{"type":"string","required":false,"read_only":false,"label":"Original variant"},"pub_med_references":{"type":"list","required":false,"read_only":false,"label":"PubMed references","items":{"type":"field"}}}}},"mitimpact":{"type":"array","title":"IRCCS MitImpact","items":{"type":"object","properties":{"apogee":{"type":"string","required":true,"read_only":false,"label":"APOGEE"},"apogee_score":{"type":"float","required":true,"read_only":false,"label":"APOGEE_score"},"mitimpact_id":{"type":"string","required":true,"read_only":false,"label":"MitImpact_id"}}}},"chop_mitotip":{"type":"array","title":"CHOP MitoTip","items":{"type":"object","properties":{"functions":{"type":"list","required":false,"read_only":false,"label":"Functions","items":{"type":"string"}},"coding_impact":{"type":"string","required":false,"read_only":false,"label":"Coding impact"},"acmg_confirmed":{"type":"boolean","required":false,"read_only":false,"label":"ACMG confirmation flag"},"acmg_class":{"type":"string","required":false,"read_only":false,"label":"ACMG class"},"acmg_reannotated":{"type":"string","required":false,"read_only":false,"label":"ACMG reannotated"},"source":{"type":"string","required":false,"read_only":false,"label":"Source"},"codon":{"type":"integer","required":false,"read_only":false,"label":"Codon"},"gene_symbol":{"type":"string","required":false,"read_only":false,"label":"Gene symbol"},"hgvs":{"type":"string","required":false,"read_only":false,"label":"HGVS"},"transcript":{"type":"string","required":false,"read_only":false,"label":"Transcript"},"count":{"type":"float","required":true,"read_only":false,"label":"Count"},"mitotip_score":{"type":"float","required":true,"read_only":false,"label":"MitoTip_Score"},"mitomap_status":{"type":"string","required":true,"read_only":false,"label":"Mitomap_Status"},"percentage":{"type":"float","required":true,"read_only":false,"label":"Percentage"},"quartile":{"type":"string","required":true,"read_only":false,"label":"Quartile"}}}},"chop_mitomap":{"type":"array","title":"CHOP Mitomap","items":{"type":"object","properties":{"functions":{"type":"list","required":false,"read_only":false,"label":"Functions","items":{"type":"string"}},"coding_impact":{"type":"string","required":false,"read_only":false,"label":"Coding impact"},"acmg_confirmed":{"type":"boolean","required":false,"read_only":false,"label":"ACMG confirmation flag"},"acmg_class":{"type":"string","required":false,"read_only":false,"label":"ACMG class"},"acmg_reannotated":{"type":"string","required":false,"read_only":false,"label":"ACMG reannotated"},"source":{"type":"string","required":false,"read_only":false,"label":"Source"},"codon":{"type":"integer","required":false,"read_only":false,"label":"Codon"},"gene_symbol":{"type":"string","required":false,"read_only":false,"label":"Gene symbol"},"hgvs":{"type":"string","required":false,"read_only":false,"label":"HGVS"},"transcript":{"type":"string","required":false,"read_only":false,"label":"Transcript"},"diseases":{"type":"list","required":false,"read_only":false,"label":"Diseases","items":{"type":"field"}},"possible_functional_studies":{"type":"list","required":false,"read_only":false,"label":"Possible functional studies","items":{"type":"string"}},"pub_med_references":{"type":"list","required":false,"read_only":false,"label":"PubMed references","items":{"type":"integer"}}}}},"saphetor_varsome_comment":{"type":"array","title":"Saphetor VarSome Comment","items":{"type":"object","properties":{"functions":{"type":"list","required":false,"read_only":false,"label":"Functions","items":{"type":"string"}},"coding_impact":{"type":"string","required":false,"read_only":false,"label":"Coding impact"},"acmg_confirmed":{"type":"boolean","required":false,"read_only":false,"label":"ACMG confirmation flag"},"acmg_class":{"type":"string","required":false,"read_only":false,"label":"ACMG class"},"acmg_reannotated":{"type":"string","required":false,"read_only":false,"label":"ACMG reannotated"},"source":{"type":"string","required":false,"read_only":false,"label":"Source"},"codon":{"type":"integer","required":false,"read_only":false,"label":"Codon"},"gene_symbol":{"type":"string","required":false,"read_only":false,"label":"Gene symbol"},"hgvs":{"type":"string","required":false,"read_only":false,"label":"HGVS"},"transcript":{"type":"string","required":false,"read_only":false,"label":"Transcript"},"comment":{"type":"string","required":false,"read_only":false,"label":"Comment"},"flagged_at_timestamp":{"type":"string","required":false,"read_only":false,"label":"Flagged at"},"id":{"type":"integer","required":false,"read_only":false,"label":"Id"},"saphetorClass":{"type":"string","required":false,"read_only":false,"label":"Saphetor class"},"user_id":{"type":"integer","required":false,"read_only":false,"label":"User id"},"variant_id":{"type":"integer","required":false,"read_only":false,"label":"Variant id"},"is_lifted_over":{"type":"boolean","required":false,"read_only":false,"label":"Lifted over flag"},"lifted_from":{"type":"string","required":false,"read_only":false,"label":"Lifted from"}}}},"saphetor_pubmeduserentry":{"type":"array","title":"Saphetor PubMedUserEntry","items":{"type":"object","properties":{"functions":{"type":"list","required":false,"read_only":false,"label":"Functions","items":{"type":"string"}},"coding_impact":{"type":"string","required":false,"read_only":false,"label":"Coding impact"},"acmg_confirmed":{"type":"boolean","required":false,"read_only":false,"label":"ACMG confirmation flag"},"acmg_class":{"type":"string","required":false,"read_only":false,"label":"ACMG class"},"acmg_reannotated":{"type":"string","required":false,"read_only":false,"label":"ACMG reannotated"},"source":{"type":"string","required":false,"read_only":false,"label":"Source"},"codon":{"type":"integer","required":false,"read_only":false,"label":"Codon"},"gene_symbol":{"type":"string","required":false,"read_only":false,"label":"Gene symbol"},"hgvs":{"type":"string","required":false,"read_only":false,"label":"HGVS"},"transcript":{"type":"string","required":false,"read_only":false,"label":"Transcript"},"pub_med_references":{"type":"list","required":false,"read_only":false,"label":"PubMed references","items":{"type":"integer"}},"pathogenicity":{"type":"string","required":false,"read_only":false,"label":"Pathogenicity"},"id":{"type":"integer","required":false,"read_only":false,"label":"Id"},"confirmedByFunctionalStudy":{"type":"boolean","required":false,"read_only":false,"label":"Functional study confirmation"},"is_lifted_over":{"type":"boolean","required":false,"read_only":false,"label":"Lifted over flag"},"lifted_from":{"type":"string","required":false,"read_only":false,"label":"Lifted from"}}}},"uniprot_uniprot_variants":{"type":"array","title":"UNIPROT UniProt Variants","items":{"type":"object","properties":{"functions":{"type":"list","required":false,"read_only":false,"label":"Functions","items":{"type":"string"}},"coding_impact":{"type":"string","required":false,"read_only":false,"label":"Coding impact"},"acmg_confirmed":{"type":"boolean","required":false,"read_only":false,"label":"ACMG confirmation flag"},"acmg_class":{"type":"string","required":false,"read_only":false,"label":"ACMG class"},"acmg_reannotated":{"type":"string","required":false,"read_only":false,"label":"ACMG reannotated"},"source":{"type":"string","required":false,"read_only":false,"label":"Source"},"codon":{"type":"integer","required":false,"read_only":false,"label":"Codon"},"gene_symbol":{"type":"string","required":false,"read_only":false,"label":"Gene symbol"},"hgvs":{"type":"string","required":false,"read_only":false,"label":"HGVS"},"transcript":{"type":"string","required":false,"read_only":false,"label":"Transcript"},"possible_functional_studies":{"type":"list","required":false,"read_only":false,"label":"Possible functional studies","items":{"type":"integer"}},"pub_med_references":{"type":"list","required":false,"read_only":false,"label":"PubMed references","items":{"type":"integer"}},"disease_name":{"type":"list","required":false,"read_only":false,"label":"Disease names","items":{"type":"string"}},"disease_symbol":{"type":"list","required":false,"read_only":false,"label":"Disease symbols","items":{"type":"string"}},"annotation_id":{"type":"string","required":false,"read_only":false,"label":"Annotation id"},"variant_type":{"type":"string","required":false,"read_only":false,"label":"Variant type"},"disease":{"type":"string","required":false,"read_only":false,"label":"Disease"}}}}}}}}}}}},"mitimpact":{"type":"array","title":"IRCCS MitImpact","items":{"type":"object","properties":{"apogee":{"type":"string","required":true,"read_only":false,"label":"APOGEE"},"apogee_score":{"type":"float","required":true,"read_only":false,"label":"APOGEE_score"},"mitimpact_id":{"type":"string","required":true,"read_only":false,"label":"MitImpact_id"}}}},"mitotip":{"type":"array","title":"CHOP Mitotip","items":{"type":"object","properties":{"count":{"type":"float","required":true,"read_only":false,"label":"Count"},"mitotip_score":{"type":"float","required":true,"read_only":false,"label":"MitoTip_Score"},"mitomap_status":{"type":"string","required":true,"read_only":false,"label":"Mitomap_Status"},"percentage":{"type":"float","required":true,"read_only":false,"label":"Percentage"},"quartile":{"type":"string","required":true,"read_only":false,"label":"Quartile"}}}},"mitomap":{"type":"array","title":"CHOP Mitomap","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"ac":{"type":"integer","required":false,"read_only":false,"label":"ac"},"af":{"type":"float","required":false,"read_only":false,"label":"af"},"disease_status":{"type":"string","required":false,"read_only":false,"label":"Disease status"},"diseases":{"type":"list","required":false,"read_only":false,"label":"Diseases","items":{"type":"field"}},"heteroplasmy":{"type":"string","required":false,"read_only":false,"label":"heteroplasmy"},"homoplasmy":{"type":"string","required":false,"read_only":false,"label":"homoplasmy"},"pub_med_references":{"type":"list","required":false,"read_only":false,"label":"PUBMED References","items":{"type":"field"}},"main_data":{"type":"string","required":false,"read_only":false,"label":"Main data point"}}}},"alpha_missense":{"type":"array","title":"HL AlphaMissense","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"main_data":{"type":"string","required":false,"read_only":false,"label":"Main data point"},"alpha_missense_score":{"type":"float","required":false,"read_only":false,"label":"Alpha Missense Score"}}}},"pharmgkb":{"type":"array","title":"PharmGKB","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"chemical_relations":{"type":"array","title":"Chemical Relations","items":{"type":"object","properties":{"significant":{"type":"boolean","required":false,"read_only":false,"label":"Significant"},"curator_notes":{"type":"string","required":false,"read_only":false,"label":"Curator Notes"},"annotation_id":{"type":"integer","required":false,"read_only":false,"label":"Annotation ID"},"drug_variant_relation":{"type":"string","required":false,"read_only":false,"label":"Drug Variant Relation"},"pub_med_references":{"type":"list","required":false,"read_only":false,"label":"Pub Med IDs","items":{"type":"field"}},"id":{"type":"string","required":false,"read_only":false,"label":"ID"},"name":{"type":"string","required":false,"read_only":false,"label":"Name"},"normalized_drug":{"type":"list","required":false,"read_only":false,"label":"Normalized Drug","items":{"type":"string"}},"association":{"type":"string","required":false,"read_only":false,"label":"Association"},"pharmacodynamic":{"type":"boolean","required":false,"read_only":false,"label":"Pharmacodynamic"},"pharmacokinetic":{"type":"boolean","required":false,"read_only":false,"label":"Pharmacokinetic"},"drug_label_annotations":{"type":"list","required":false,"read_only":false,"label":"Drug Label Annotations","items":{"type":"field"}}}}},"disease_relations":{"type":"array","title":"Disease Relations","items":{"type":"object","properties":{"pub_med_references":{"type":"list","required":false,"read_only":false,"label":"Pub Med IDs","items":{"type":"field"}},"pharmacodynamic":{"type":"boolean","required":false,"read_only":false,"label":"Pharmacodynamic"},"pharmacokinetic":{"type":"boolean","required":false,"read_only":false,"label":"Pharmacokinetic"},"name":{"type":"string","required":false,"read_only":false,"label":"Name"},"association":{"type":"string","required":false,"read_only":false,"label":"Association"},"id":{"type":"string","required":false,"read_only":false,"label":"ID"}}}},"clinical_annotations":{"type":"array","title":"Clinical Annotations","items":{"type":"object","properties":{"pub_med_references":{"type":"list","required":false,"read_only":false,"label":"Pub Med IDs","items":{"type":"field"}},"url":{"type":"string","required":false,"read_only":false,"label":"URL"},"annotation_text":{"type":"list","required":false,"read_only":false,"label":"Annotation Text","items":{"type":"field"}},"evidence":{"type":"array","title":"Evidence","items":{"type":"object","properties":{"summary":{"type":"string","required":false,"read_only":false,"label":"Summary"},"evidence_url":{"type":"string","required":false,"read_only":false,"label":"Evidence URL"},"evidence_id":{"type":"string","required":false,"read_only":false,"label":"Evidence ID"},"score":{"type":"float","required":false,"read_only":false,"label":"Score"},"evidence_type":{"type":"string","required":false,"read_only":false,"label":"Evidence Type"}}}},"score":{"type":"float","required":false,"read_only":false,"label":"Score"},"id":{"type":"integer","required":false,"read_only":false,"label":"Clinical Annotation ID"},"annotation_type":{"type":"string","required":false,"read_only":false,"label":"Annotation Type"},"chemical_relations":{"type":"list","required":false,"read_only":false,"label":"Chemical Relations","items":{"type":"field"}},"level_of_evidence":{"type":"string","required":false,"read_only":false,"label":"Level of Evidence"}}}},"variant_info":{"type":"array","title":"Variant Info","items":{"type":"object","properties":{"url":{"type":"url","required":false,"read_only":false,"label":"URL"},"variant":{"type":"string","required":false,"read_only":false,"label":"Variant"},"variant_id":{"type":"string","required":false,"read_only":false,"label":"Variant ID"}}}}}}},"acmg_annotation":{"type":"object","title":"Germline Annotation","properties":{"version_name":{"type":"string","required":false,"read_only":false,"label":"VarSome's software version"},"gene_symbol":{"type":"string","required":false,"read_only":false,"label":"Gene Symbol"},"transcript":{"type":"string","required":false,"read_only":false,"label":"Transcript"},"transcript_reason":{"type":"string","required":false,"read_only":false,"label":"Reason for the transcript usage"},"transcript_candidates":{"type":"array","title":"Transcript candidates","items":{"type":"object","properties":{"canonical":{"type":"boolean","required":false,"read_only":false,"label":"Canonical"},"gene_id":{"type":"integer","required":false,"read_only":false,"label":"Gene identification number"},"gene_symbol":{"type":"string","required":false,"read_only":false,"label":"Gene Symbol"},"is_splicing":{"type":"boolean","required":false,"read_only":false,"label":"Is splicing flag"},"name":{"type":"string","required":false,"read_only":false,"label":"Transcript candidate name"},"coding_impact":{"type":"string","required":false,"read_only":false,"label":"Coding Impact"},"blosum_score":{"type":"integer","required":false,"read_only":false,"label":"Blosum score"},"total_coding_length":{"type":"integer","required":false,"read_only":false,"label":"Total coding length"},"total_exon_length":{"type":"integer","required":false,"read_only":false,"label":"Total exon length"},"user_specifier":{"type":"boolean","required":false,"read_only":false,"label":"User specifier flag"},"gene_transcript":{"type":"string","required":false,"read_only":false,"label":"Gene transcript"}}}},"coding_impact":{"type":"string","required":false,"read_only":false,"label":"Coding Impact"},"blosum_score":{"type":"integer","required":false,"read_only":false,"label":"Blosum Score"},"verdict":{"type":"object","title":"Overall results of the ACMG classification","properties":{"ACMG_rules":{"type":"object","title":"Overall results of the ACMG classification","properties":{"approx_score":{"type":"integer","required":false,"read_only":false,"label":"Numeric score used for sorting"},"benign_score":{"type":"integer","required":false,"read_only":false,"label":"Numeric sum of benign rules individual scores"},"benign_subscore":{"type":"string","required":false,"read_only":false,"label":"Verdict derived using only benign rules"},"clinical_score":{"type":"float","required":false,"read_only":false,"label":"Numeric score of ACMG classification"},"pathogenic_score":{"type":"integer","required":false,"read_only":false,"label":"Numeric sum of pathogenic rules individual scores"},"pathogenic_subscore":{"type":"string","required":false,"read_only":false,"label":"Verdict derived using only pathogenic rules"},"total_score":{"type":"integer","required":false,"read_only":false,"label":"Numeric score of ACMG, calculated by subtracting the benign_score from the pathogenic_score"},"verdict":{"type":"string","required":false,"read_only":false,"label":"ACMG Classification based on the annotation data per the ACMG guidelines"}}},"classifications":{"type":"list","required":false,"read_only":false,"label":"Succeeded ACMG rules","items":{"type":"string"}}}},"classifications":{"type":"array","title":"The rules that succeeded as well as the ones that failed but have a clear user explanation","items":{"type":"object","properties":{"name":{"type":"string","required":false,"read_only":false,"label":"ACMG rule's name"},"met_criteria":{"type":"boolean","required":false,"read_only":false,"label":"Success status"},"user_explain":{"type":"list","required":false,"read_only":false,"label":"User explanations for why the rule succeeded","items":{"type":"string"}},"user_explain_failed":{"type":"list","required":false,"read_only":false,"label":"User explanations for why the rule failed","items":{"type":"string"}},"strength":{"type":"string","required":false,"read_only":false,"label":"Strength"}}}},"gene_id":{"type":"integer","required":false,"read_only":false,"label":"Internal gene identification number"},"sample_findings":{"type":"object","title":"The overall results of the findings for the specified sample","properties":{"inheritance":{"type":"string","required":false,"read_only":false,"label":"The inheritance"},"phenotypes":{"type":"string","required":false,"read_only":false,"label":"Phenotypes matching explanation"},"disease":{"type":"string","required":false,"read_only":false,"label":"Diseases matching explanation"},"mode_of_inheritance":{"type":"string","required":false,"read_only":false,"label":"Sample's chosen mode of inheritance"},"ethinicity":{"type":"string","required":false,"read_only":false,"label":"Sample's frequency explanation based on ethnic group"}}},"throttling_info":{"type":"object","title":"Throttling info","properties":{"throttling_msg":{"type":"string","required":true,"read_only":false,"label":"throttling error msg"}}},"errors":{"type":"list","required":false,"read_only":false,"label":"Errors reported during classification","items":{"type":"nested object"}},"is_cancer_explain":{"type":"string","required":false,"read_only":false,"label":"Is cancer explain"}}},"amp_annotation":{"type":"object","title":"Somatic Annotation","properties":{"version_name":{"type":"string","required":false,"read_only":false,"label":"VarSome's software version"},"verdict":{"type":"object","title":"Overall results of the AMP classification","properties":{"tier":{"type":"string","required":false,"read_only":false,"label":"AMP classification tier"},"approx_score":{"type":"float","required":false,"read_only":false,"label":"Numeric score used for sorting"}}},"classifications":{"type":"array","title":"The rules that succeeded as well as the ones that failed buthave a clear user explanation","items":{"type":"object","properties":{"name":{"type":"string","required":false,"read_only":false,"label":"AMP rule's name"},"tier":{"type":"string","required":false,"read_only":false,"label":"Tier assigned to the rule"},"user_explain":{"type":"object","title":"User explanations for why the rule succeeded","properties":{"tier_1":{"type":"list","required":false,"read_only":false,"label":"Tier I","items":{"type":"field"}},"tier_2":{"type":"list","required":false,"read_only":false,"label":"Tier II","items":{"type":"field"}},"tier_3":{"type":"list","required":false,"read_only":false,"label":"Tier III","items":{"type":"field"}},"tier_4":{"type":"list","required":false,"read_only":false,"label":"Tier IV","items":{"type":"field"}}}},"total_samples":{"type":"integer","required":false,"read_only":false,"label":"Total samples found for the specific variant, only in the Somatic Rule"},"approx_score":{"type":"float","required":false,"read_only":false,"label":"Approximately score"}}}},"sample_findings":{"type":"object","title":"The overall results of the findings for the specified sample","properties":{"sex":{"type":"string","required":false,"read_only":false,"label":"Sample findings for the specified sex"},"inheritance":{"type":"string","required":false,"read_only":false,"label":"The inheritance"},"age":{"type":"string","required":false,"read_only":false,"label":"Sample findings across the specified age"},"age_match":{"type":"string","required":false,"read_only":false,"label":"Sample findings for the specified sex"},"tissue_type_match":{"type":"list","required":false,"read_only":false,"label":"Sample findings for the specified tissue type","items":{"type":"field"}},"cancer_type_match":{"type":"list","required":false,"read_only":false,"label":"Sample findings for the specified cancer type","items":{"type":"field"}},"ethnic_frequency":{"type":"string","required":false,"read_only":false,"label":"Sample findings for the specified ethnic frequency"}}},"approved_therapies":{"type":"array","title":"The approved therapies","items":{"type":"object","properties":{"approval_status":{"type":"string","required":false,"read_only":false,"label":"Approval status"},"evidence_type":{"type":"string","required":false,"read_only":false,"label":"Evidence type"},"efficacy_evidence":{"type":"string","required":false,"read_only":false,"label":"Efficacy evidence"},"response_type":{"type":"string","required":false,"read_only":false,"label":"Response Type"},"amp_tier":{"type":"string","required":false,"read_only":false,"label":"AMP tier"},"cap_level":{"type":"string","required":false,"read_only":false,"label":"Cap level"},"therapy":{"type":"string","required":false,"read_only":false,"label":"Therapy"},"therapy_id":{"type":"integer","required":false,"read_only":false,"label":"Therapy ID"},"normalized_drug_name":{"type":"string","required":false,"read_only":false,"label":"Normalized drug name"},"indication":{"type":"string","required":false,"read_only":false,"label":"Indication"},"normalized_cancer":{"type":"string","required":false,"read_only":false,"label":"Normalized cancer"},"pub_med_references":{"type":"list","required":false,"read_only":false,"label":"PUBMED references","items":{"type":"integer"}},"molecular_profile":{"type":"string","required":false,"read_only":false,"label":"Molecular profile"},"approved_authorities":{"type":"list","required":false,"read_only":false,"label":"Approved authorities","items":{"type":"string"}},"drugs":{"type":"array","title":"Drugs","items":{"type":"object","properties":{"drug_name":{"type":"string","required":false,"read_only":false,"label":"Drug name"},"id":{"type":"integer","required":false,"read_only":false,"label":"Drug ID"},"normalized_drug":{"type":"string","required":false,"read_only":false,"label":"Normalized drug"}}}},"therapy_descriptions":{"type":"array","title":"Therapy descriptions","items":{"type":"object","properties":{"description":{"type":"string","required":false,"read_only":false,"label":"Description"},"pub_med_references":{"type":"list","required":false,"read_only":false,"label":"PUBMED references","items":{"type":"integer"}}}}}}}},"throttling_info":{"type":"object","title":"Throttling info","properties":{"throttling_msg":{"type":"string","required":true,"read_only":false,"label":"throttling error msg"}}},"errors":{"type":"list","required":false,"read_only":false,"label":"Errors reported during classification","items":{"type":"nested object"}}}},"not_subscribed_sources":{"type":"nested object","required":false,"read_only":false,"label":"Not subscribed sources"},"dbnsfp_premium":{"type":"array","title":"dbNSFP Premium","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"ensembl_proteinid":{"type":"list","required":false,"read_only":false,"label":"Ensembl Protein ID","items":{"type":"string"}},"ensembl_transcriptid":{"type":"list","required":false,"read_only":false,"label":"Ensembl Transcript ID","items":{"type":"string"}},"polyphen2_hdiv_pred":{"type":"list","required":false,"read_only":false,"label":"Polyphen2-HDIV prediction","items":{"type":"string"}},"polyphen2_hdiv_rankscore":{"type":"float","required":false,"read_only":false,"label":"Polyphen2-HDIV rankscore"},"polyphen2_hdiv_score":{"type":"list","required":false,"read_only":false,"label":"Polyphen2-HDIV score","items":{"type":"float"}},"polyphen2_hvar_pred":{"type":"list","required":false,"read_only":false,"label":"Polyphen2-HVAR prediction","items":{"type":"string"}},"polyphen2_hvar_rankscore":{"type":"float","required":false,"read_only":false,"label":"Polyphen2-HVAR rankscore"},"polyphen2_hvar_score":{"type":"list","required":false,"read_only":false,"label":"Polyphen2-HVAR score","items":{"type":"float"}}}}},"cadd":{"type":"array","title":"CADD score","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"cadd_score":{"type":"float","required":false,"read_only":false,"label":"CADD Score"}}}},"cbio_portal":{"type":"array","title":"cBioPortal","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"total_samples":{"type":"integer","required":false,"read_only":false,"label":"Sample Count"},"sample_id":{"type":"array","title":"Sample ID","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"sample_type":{"type":"array","title":"Sample Type","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"study_name":{"type":"array","title":"Study Name","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"mutation_status":{"type":"array","title":"Mutation Status","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"validation_status":{"type":"array","title":"Validation Status","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"center":{"type":"array","title":"Center","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"t_ref_count":{"type":"integer","required":false,"read_only":false,"label":"T Ref Count"},"t_alt_count":{"type":"integer","required":false,"read_only":false,"label":"T Alt Count"},"n_ref_count":{"type":"integer","required":false,"read_only":false,"label":"N Ref Count"},"n_alt_count":{"type":"integer","required":false,"read_only":false,"label":"N Alt Count"},"n_depth":{"type":"integer","required":false,"read_only":false,"label":"N Depth"},"t_depth":{"type":"integer","required":false,"read_only":false,"label":"T Depth"},"canonical":{"type":"boolean","required":false,"read_only":false,"label":"Canonical"},"hotspot":{"type":"boolean","required":false,"read_only":false,"label":"Hot Spot"},"ensp":{"type":"string","required":false,"read_only":false,"label":"ENSP"},"ccds":{"type":"string","required":false,"read_only":false,"label":"CCDS"},"cdsposition":{"type":"string","required":false,"read_only":false,"label":"CDS Position"},"cdnaposition":{"type":"string","required":false,"read_only":false,"label":"cDNA Position"},"biotype":{"type":"string","required":false,"read_only":false,"label":"Bio Type"},"uniparc":{"type":"string","required":false,"read_only":false,"label":"Uniparc"},"pick":{"type":"float","required":false,"read_only":false,"label":"Pick"},"sex":{"type":"array","title":"Sex","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"age_freq":{"type":"array","title":"Age frequency","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"os_months":{"type":"array","title":"Os Months","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"os_status":{"type":"array","title":"Os Status","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"race":{"type":"array","title":"Race","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"tumor_status":{"type":"array","title":"Tumor Status","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"dfs_months":{"type":"array","title":"Dfs Months","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"path_t_stage":{"type":"array","title":"Path T Stage","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"pfs_status":{"type":"array","title":"Pfs Status","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"radiation_therapy":{"type":"array","title":"Radiation Therapy","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"path_n_stage":{"type":"array","title":"Path N Stage","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"path_m_stage":{"type":"array","title":"Path M Stage","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"new_tumor_event_after_initial_treatment":{"type":"array","title":"New tumor event after treatment","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"ajcc_pathologic_tumor_stage":{"type":"array","title":"Ajcc Pathologic Tumor Stage","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"dss_status":{"type":"array","title":"DSS Status","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"prior_dx":{"type":"array","title":"Prior DX","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"somatic_status_freq":{"type":"array","title":"Somatic Status Frequency","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"grade":{"type":"array","title":"Grade","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"pub_med_references":{"type":"list","required":false,"read_only":false,"label":"PUBMED References","items":{"type":"field"}},"oncotree_code":{"type":"array","title":"Oncotree Code","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"cancer_name":{"type":"array","title":"Cancer Name","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"cancer_type":{"type":"array","title":"Cancer Type","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"tissue_type":{"type":"array","title":"Tissue Type","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}}}}},"cancer_hotspots":{"type":"array","title":"Cancer Hot Spots","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"total_samples":{"type":"integer","required":false,"read_only":false,"label":"Sample Count"},"t_ref_count":{"type":"integer","required":false,"read_only":false,"label":"T Ref Count"},"t_alt_count":{"type":"integer","required":false,"read_only":false,"label":"T Alt Count"},"n_ref_count":{"type":"integer","required":false,"read_only":false,"label":"N Ref Count"},"n_alt_count":{"type":"integer","required":false,"read_only":false,"label":"N Alt Count"},"n_depth":{"type":"integer","required":false,"read_only":false,"label":"N Depth"},"t_depth":{"type":"integer","required":false,"read_only":false,"label":"T Depth"},"somatic":{"type":"array","title":"Somatic","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"canonical":{"type":"boolean","required":false,"read_only":false,"label":"Canonical"},"ensp":{"type":"string","required":false,"read_only":false,"label":"ENSP"},"ccds":{"type":"string","required":false,"read_only":false,"label":"CCDS"},"cdsposition":{"type":"string","required":false,"read_only":false,"label":"CDS Position"},"cdnaposition":{"type":"string","required":false,"read_only":false,"label":"cDNA Position"},"biotype":{"type":"string","required":false,"read_only":false,"label":"Bio Type"},"feature":{"type":"string","required":false,"read_only":false,"label":"Feature"},"uniparc":{"type":"string","required":false,"read_only":false,"label":"Uniparc"},"pick":{"type":"float","required":false,"read_only":false,"label":"Pick"},"pub_med_references":{"type":"list","required":false,"read_only":false,"label":"PUBMED References","items":{"type":"field"}},"oncotree_code":{"type":"array","title":"Oncotree Code","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"cancer_name":{"type":"array","title":"Cancer Name","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"cancer_type":{"type":"array","title":"Cancer Type","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}},"tissue_type":{"type":"array","title":"Tissue Type","items":{"type":"object","properties":{"key":{"type":"string","required":true,"read_only":false,"label":"Key"},"value":{"type":"integer","required":true,"read_only":false,"label":"Value"}}}}}}},"jax_ckb":{"type":"array","title":"JAX CKB","items":{"type":"object","properties":{"ckb_id":{"type":"integer","required":true,"read_only":false,"label":"CKB id"},"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"coding_impact":{"type":"string","required":true,"read_only":false,"label":"Coding Impact"},"evidence":{"type":"list","required":false,"read_only":false,"label":"Evidence","items":{"type":"field"}},"extended_evidence":{"type":"list","required":false,"read_only":false,"label":"Extended Evidence","items":{"type":"field"}},"gene_variant_descriptions":{"type":"list","required":false,"read_only":false,"label":"Gene Variant Descriptions","items":{"type":"field"}},"protein_effect":{"type":"string","required":false,"read_only":false,"label":"Protein Effect"},"cap_asco_evidence_level":{"type":"string","required":false,"read_only":false,"label":"Cap Asco Evidence Level"},"polymorphism":{"type":"boolean","required":false,"read_only":false,"label":"Polymorphism"},"transforming_activity":{"type":"boolean","required":false,"read_only":false,"label":"Transforming Activity"},"associated_with_drug_resistance":{"type":"boolean","required":false,"read_only":false,"label":"Associated With Drug Resistance"}}}},"phastcons100way":{"type":"array","title":"CSH phastCons100way","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"conservation_score":{"type":"list","required":true,"read_only":false,"label":"Conservation score","items":{"type":"decimal"}}}}},"phylop100way":{"type":"array","title":"CSH phyloP100way","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"conservation_score":{"type":"list","required":true,"read_only":false,"label":"Conservation score","items":{"type":"decimal"}}}}},"maxentscan":{"type":"array","title":"Burge Lab MaxEntScan","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"maxentscan_score":{"type":"list","required":true,"read_only":false,"label":"MaxEntScan score","items":{"type":"float"}}}}},"gnomad_mito":{"type":"array","title":"gnomAD Mitochondrial","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"filter":{"type":"string","required":false,"read_only":false,"label":"Filter"},"ac":{"type":"integer","required":false,"read_only":false,"label":"Allele Count"},"an":{"type":"integer","required":false,"read_only":false,"label":"Allele Number"},"af":{"type":"field","required":false,"read_only":true,"label":"Allele Frequency"},"ac_afr":{"type":"integer","required":false,"read_only":false,"label":"Allele Count African"},"ac_ami":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Amish"},"ac_amr":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Latino"},"ac_asj":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Ashkenazi Jewish"},"ac_eas":{"type":"integer","required":false,"read_only":false,"label":"Allele Count East Asian"},"ac_fin":{"type":"integer","required":false,"read_only":false,"label":"Allele Count European (Finnish)"},"ac_nfe":{"type":"integer","required":false,"read_only":false,"label":"Allele Count European (Non-Finnish)"},"ac_oth":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Other"},"ac_sas":{"type":"integer","required":false,"read_only":false,"label":"Allele Count South Asian"},"ac_mid":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Middle Eastern"},"ac_hom":{"type":"integer","required":false,"read_only":false,"label":"Allele count restricted to variants with a heteroplasmy level >= 0.95"},"ac_het":{"type":"integer","required":false,"read_only":false,"label":"Allele count restricted to variants with a heteroplasmy level >= 0.10 and < 0.95"},"ac_afr_hom":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Homoplasmy African"},"ac_ami_hom":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Homoplasmy Amish"},"ac_amr_hom":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Homoplasmy Latino"},"ac_asj_hom":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Homoplasmy Ashkenazi Jewish"},"ac_eas_hom":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Homoplasmy East Asian"},"ac_fin_hom":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Homoplasmy European (Finnish)"},"ac_nfe_hom":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Homoplasmy European (Non-Finnish)"},"ac_oth_hom":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Homoplasmy Other"},"ac_sas_hom":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Homoplasmy South Asian"},"ac_mid_hom":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Homoplasmy Middle Eastern"},"ac_afr_het":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Heteroplasmy African"},"ac_ami_het":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Heteroplasmy Amish"},"ac_amr_het":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Heteroplasmy Latino"},"ac_asj_het":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Heteroplasmy Ashkenazi Jewish"},"ac_eas_het":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Heteroplasmy East Asian"},"ac_fin_het":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Heteroplasmy European (Finnish)"},"ac_nfe_het":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Heteroplasmy European (Non-Finnish)"},"ac_oth_het":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Heteroplasmy Other"},"ac_sas_het":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Heteroplasmy South Asian"},"ac_mid_het":{"type":"integer","required":false,"read_only":false,"label":"Allele Count Heteroplasmy Middle Eastern"},"an_afr":{"type":"integer","required":false,"read_only":false,"label":"Allele Number African"},"an_ami":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Amish"},"an_amr":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Latino"},"an_asj":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Ashkenazi Jewish"},"an_eas":{"type":"integer","required":false,"read_only":false,"label":"Allele Number East Asian"},"an_fin":{"type":"integer","required":false,"read_only":false,"label":"Allele Number European (Finnish)"},"an_nfe":{"type":"integer","required":false,"read_only":false,"label":"Allele Number European (Non-Finnish)"},"an_oth":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Other"},"an_sas":{"type":"integer","required":false,"read_only":false,"label":"Allele Number South Asian"},"an_mid":{"type":"integer","required":false,"read_only":false,"label":"Allele Number Middle Eastern"},"age_hist_het_under_30":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Heteroplasmic Under 30"},"age_hist_het_30_35":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Heteroplasmic 30-35"},"age_hist_het_35_40":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Heteroplasmic 35-40"},"age_hist_het_40_45":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Heteroplasmic 40-45"},"age_hist_het_45_50":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Heteroplasmic 45-50"},"age_hist_het_50_55":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Heteroplasmic 50-55"},"age_hist_het_55_60":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Heteroplasmic 55-60"},"age_hist_het_60_65":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Heteroplasmic 60-65"},"age_hist_het_65_70":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Heteroplasmic 65-70"},"age_hist_het_70_75":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Heteroplasmic 70-75"},"age_hist_het_75_80":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Heteroplasmic 75-80"},"age_hist_het_over_80":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Heteroplasmic Over 80"},"age_hist_hom_under_30":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Homoplasmic Under 30"},"age_hist_hom_30_35":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Homoplasmic 30-35"},"age_hist_hom_35_40":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Homoplasmic 35-40"},"age_hist_hom_40_45":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Homoplasmic 40-45"},"age_hist_hom_45_50":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Homoplasmic 45-50"},"age_hist_hom_50_55":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Homoplasmic 50-55"},"age_hist_hom_55_60":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Homoplasmic 55-60"},"age_hist_hom_60_65":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Homoplasmic 60-65"},"age_hist_hom_65_70":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Homoplasmic 65-70"},"age_hist_hom_70_75":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Homoplasmic 70-75"},"age_hist_hom_75_80":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Homoplasmic 75-80"},"age_hist_hom_over_80":{"type":"integer","required":false,"read_only":false,"label":"Age Histogram Homoplasmic Over 80"},"mitotip_score":{"type":"float","required":false,"read_only":false,"label":"MitoTip raw score"},"mitotip_trna_prediction":{"type":"string","required":false,"read_only":false,"label":"MitoTip score interpretation"},"pon_ml_probability_of_pathogenicity":{"type":"float","required":false,"read_only":false,"label":"tRNA ML_probability_of_pathogenicity from PON-mt-tRNA"},"pon_mt_trna_prediction":{"type":"string","required":false,"read_only":false,"label":"tRNA pathogenicity classification from PON-mt-tRNA"},"original_variant":{"type":"string","required":false,"read_only":false,"label":"Original variant"},"main_data":{"type":"string","required":false,"read_only":false,"label":"Main data point"}}}},"variant_pubmed_automap":{"type":"array","title":"variant to publications automatically generated map","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"pub_med_references":{"type":"list","required":false,"read_only":false,"label":"PUBMED References","items":{"type":"integer"}}}}},"wustl_docm":{"type":"array","title":"WUSTL DoCM","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"diseases":{"type":"array","title":"Diseases","items":{"type":"object","properties":{"disease":{"type":"string","required":false,"read_only":false,"label":"Disease"},"doid":{"type":"string","required":false,"read_only":false,"label":"Doid"},"pub_med_references":{"type":"list","required":false,"read_only":false,"label":"Pub Med References","items":{"type":"field"}},"tags":{"type":"list","required":false,"read_only":false,"label":"Tags","items":{"type":"field"}}}}},"drugs":{"type":"array","title":"Drugs","items":{"type":"object","properties":{"effect":{"type":"string","required":false,"read_only":false,"label":"Effect"},"evidence":{"type":"string","required":false,"read_only":false,"label":"Evidence"},"pathway":{"type":"string","required":false,"read_only":false,"label":"Pathway"},"source":{"type":"string","required":false,"read_only":false,"label":"Source"},"status":{"type":"string","required":false,"read_only":false,"label":"Status"},"therapeutic_context":{"type":"string","required":false,"read_only":false,"label":"Therapeutic Context"},"pub_med_references":{"type":"list","required":false,"read_only":false,"label":"Pub Med References","items":{"type":"field"}}}}},"pub_med_references":{"type":"list","required":false,"read_only":false,"label":"Pub Med References","items":{"type":"field"}},"hgvs":{"type":"string","required":false,"read_only":false,"label":"HGVS"}}}},"eve":{"type":"array","title":"OATML EVE","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"items":{"type":"list","required":false,"read_only":false,"label":"EVE entries","items":{"type":"field"}}}}},"omim":{"type":"array","title":"JHU OMIM","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"items":{"type":"array","title":"OMIM entries","items":{"type":"object","properties":{"description":{"type":"string","required":false,"read_only":false,"label":"Description"},"mutations":{"type":"string","required":false,"read_only":false,"label":"Mutations"},"omim_id":{"type":"integer","required":false,"read_only":false,"label":"Gene OMIM ID"},"number":{"type":"integer","required":false,"read_only":false,"label":"OMIM entry number"},"phenotype_name":{"type":"string","required":false,"read_only":false,"label":"Phenotype name related to mutation"},"alternative_phenotype_names":{"type":"list","required":false,"read_only":false,"label":"Alternative phenotype names","items":{"type":"string"}},"references":{"type":"array","title":"References","items":{"type":"object","properties":{"pub_med_references":{"type":"list","required":false,"read_only":false,"label":"PubMedIds","items":{"type":"integer"}},"reference_number":{"type":"integer","required":false,"read_only":false,"label":"Reference number in texts"},"title":{"type":"string","required":false,"read_only":false,"label":"Reference title"},"source":{"type":"string","required":false,"read_only":false,"label":"Reference source"},"authors":{"type":"string","required":false,"read_only":false,"label":"Reference authors"}}}}}}}}}},"nih_clingen_variants":{"type":"array","title":"NIH ClinGen Variants","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"ClinGen Version"},"approval_date":{"type":"string","required":false,"read_only":false,"label":"Approval date"},"disease":{"type":"string","required":false,"read_only":false,"label":"Disease"},"evidence_met":{"type":"list","required":false,"read_only":false,"label":"Evidence met","items":{"type":"string"}},"evidence_not_met":{"type":"list","required":false,"read_only":false,"label":"Evidence not met","items":{"type":"string"}},"expert_panel":{"type":"string","required":false,"read_only":false,"label":"Expert Panel"},"guideline":{"type":"string","required":false,"read_only":false,"label":"Guideline"},"mode_of_inheritance":{"type":"string","required":false,"read_only":false,"label":"Mode of inheritance"},"mondo_id":{"type":"string","required":false,"read_only":false,"label":"Mondo id"},"pathogenicity":{"type":"string","required":false,"read_only":false,"label":"Pathogenicity"},"pub_med_references":{"type":"list","required":false,"read_only":false,"label":"PubMedIds","items":{"type":"integer"}},"published_date":{"type":"string","required":false,"read_only":false,"label":"Published date"},"repo_link":{"type":"string","required":false,"read_only":false,"label":"Repository link"},"retracted":{"type":"string","required":false,"read_only":false,"label":"Retracted"},"summary":{"type":"string","required":false,"read_only":false,"label":"Summary"}}}},"lumc_lovd":{"type":"array","title":"LUMC LOVD","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"LOVD Version"},"genes":{"type":"array","title":"Genes","items":{"type":"object","properties":{"gene_id":{"type":"integer","required":false,"read_only":false,"label":"Gene ID"},"hgnc_id":{"type":"integer","required":false,"read_only":false,"label":"Hgnc ID"},"gene_symbol":{"type":"string","required":false,"read_only":false,"label":"Gene Symbol"}}}},"individuals":{"type":"array","title":"Individuals","items":{"type":"object","properties":{"comments":{"type":"list","required":false,"read_only":false,"label":"Comments","items":{"type":"string"}},"gender":{"type":"string","required":false,"read_only":false,"label":"Gender"},"phenotypes":{"type":"list","required":false,"read_only":false,"label":"Phenotypes","items":{"type":"string"}},"pub_med_references":{"type":"list","required":false,"read_only":false,"label":"Pub med references","items":{"type":"integer"}},"variants":{"type":"array","title":"Variants","items":{"type":"object","properties":{"comments":{"type":"list","required":false,"read_only":false,"label":"Comments","items":{"type":"string"}},"is_current":{"type":"boolean","required":false,"read_only":false,"label":"is current"},"is_lifted_over":{"type":"boolean","required":false,"read_only":false,"label":"is lifted over"},"lovd_link":{"type":"string","required":false,"read_only":false,"label":"LOVD link"},"pathogenicity":{"type":"object","title":"Pathogenicity","properties":{"clinical_classification_submitter":{"type":"string","required":false,"read_only":false,"label":"Clinical Classification Submitter"},"clinical_classification_curator":{"type":"string","required":false,"read_only":false,"label":"Clinical Classification Curator"},"effect_submitter":{"type":"string","required":false,"read_only":false,"label":"Effect Submitter"},"effect_curator":{"type":"string","required":false,"read_only":false,"label":"Effect Curator"},"effect_symbol":{"type":"string","required":false,"read_only":false,"label":"Effect Symbol"},"lovd_link":{"type":"string","required":false,"read_only":false,"label":"LOVD link"}}},"variant_info":{"type":"array","title":"Variant Info","items":{"type":"object","properties":{"variant_id":{"type":"string","required":false,"read_only":false,"label":"Variant ID"},"variant_notation":{"type":"string","required":false,"read_only":false,"label":"Variant Notation"}}}}}}}}}},"is_lifted_over":{"type":"boolean","required":false,"read_only":false,"label":"is lifted over"},"pathogenicities":{"type":"array","title":"Pathogenicities","items":{"type":"object","properties":{"clinical_classification_submitter":{"type":"string","required":false,"read_only":false,"label":"Clinical Classification Submitter"},"clinical_classification_curator":{"type":"string","required":false,"read_only":false,"label":"Clinical Classification Curator"},"effect_submitter":{"type":"string","required":false,"read_only":false,"label":"Effect Submitter"},"effect_curator":{"type":"string","required":false,"read_only":false,"label":"Effect Curator"},"effect_symbol":{"type":"string","required":false,"read_only":false,"label":"Effect Symbol"},"lovd_link":{"type":"string","required":false,"read_only":false,"label":"LOVD link"}}}}}}},"oncokb":{"type":"array","title":"MSK OncoKB","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"allele_exist":{"type":"boolean","required":false,"read_only":false,"label":"Allele exist"},"diagnostic_implications":{"type":"array","title":"Diagnostic implications","items":{"type":"object","properties":{"abstracts":{"type":"array","title":"Abstracts","items":{"type":"object","properties":{"abstract":{"type":"string","required":true,"read_only":false,"label":"Abstract"},"link":{"type":"string","required":true,"read_only":false,"label":"Link"}}}},"alterations":{"type":"list","required":true,"read_only":false,"label":"Alterations","items":{"type":"string"}},"description":{"type":"string","required":true,"read_only":false,"label":"Description"},"level_of_evidence":{"type":"string","required":true,"read_only":false,"label":"Level of evidence"},"pmids":{"type":"list","required":true,"read_only":false,"label":"Pmids","items":{"type":"string"}},"tumor_type":{"type":"object","title":"Tumor type","properties":{"children":{"type":"nested object","required":false,"read_only":false,"label":"Children"},"code":{"type":"string","required":true,"read_only":false,"label":"Code"},"color":{"type":"string","required":true,"read_only":false,"label":"Color"},"id":{"type":"integer","required":true,"read_only":false,"label":"Id"},"level":{"type":"integer","required":true,"read_only":false,"label":"Level"},"main_type":{"type":"object","title":"Main type","properties":{"id":{"type":"integer","required":true,"read_only":false,"label":"Id"},"name":{"type":"string","required":true,"read_only":false,"label":"Name"},"tumor_form":{"type":"string","required":true,"read_only":false,"label":"Tumor form"}}},"name":{"type":"string","required":true,"read_only":false,"label":"Name"},"parent":{"type":"string","required":true,"read_only":false,"label":"Parent"},"tissue":{"type":"string","required":true,"read_only":false,"label":"Tissue"},"tumor_form":{"type":"string","required":true,"read_only":false,"label":"Tumor form"}}}}}},"diagnostic_summary":{"type":"string","required":true,"read_only":false,"label":"Diagnostic summary"},"gene_exist":{"type":"boolean","required":false,"read_only":false,"label":"Gene exist"},"gene_summary":{"type":"string","required":true,"read_only":false,"label":"Gene summary"},"highest_diagnostic_implication_level":{"type":"string","required":true,"read_only":false,"label":"Highest diagnostic level"},"highest_fda_level":{"type":"string","required":true,"read_only":false,"label":"Gene summary"},"highest_prognostic_implication_level":{"type":"string","required":true,"read_only":false,"label":"Highest prognostic implication level"},"highest_resistance_level":{"type":"string","required":true,"read_only":false,"label":"Highest resistance level"},"highest_sensitive_level":{"type":"string","required":true,"read_only":false,"label":"Highest sensitive level"},"hotspot":{"type":"boolean","required":false,"read_only":false,"label":"Hotspot"},"last_update":{"type":"string","required":true,"read_only":false,"label":"Last update"},"mutation_effect":{"type":"nested object","required":true,"read_only":false,"label":"Mutation effect"},"oncogenic":{"type":"string","required":true,"read_only":false,"label":"Oncogenic"},"other_significant_resistance_levels":{"type":"list","required":false,"read_only":false,"label":"Other significant resistance levels","items":{"type":"string"}},"other_significant_sensitive_levels":{"type":"list","required":false,"read_only":false,"label":"Other significant sensitive levels","items":{"type":"string"}},"prognostic_implications":{"type":"array","title":"Prognostic implications","items":{"type":"object","properties":{"abstracts":{"type":"array","title":"Abstracts","items":{"type":"object","properties":{"abstract":{"type":"string","required":true,"read_only":false,"label":"Abstract"},"link":{"type":"string","required":true,"read_only":false,"label":"Link"}}}},"alterations":{"type":"list","required":true,"read_only":false,"label":"Alterations","items":{"type":"string"}},"description":{"type":"string","required":true,"read_only":false,"label":"Description"},"level_of_evidence":{"type":"string","required":true,"read_only":false,"label":"Level of evidence"},"pmids":{"type":"list","required":true,"read_only":false,"label":"Pmids","items":{"type":"string"}},"tumor_type":{"type":"object","title":"Tumor type","properties":{"children":{"type":"nested object","required":false,"read_only":false,"label":"Children"},"code":{"type":"string","required":true,"read_only":false,"label":"Code"},"color":{"type":"string","required":true,"read_only":false,"label":"Color"},"id":{"type":"integer","required":true,"read_only":false,"label":"Id"},"level":{"type":"integer","required":true,"read_only":false,"label":"Level"},"main_type":{"type":"object","title":"Main type","properties":{"id":{"type":"integer","required":true,"read_only":false,"label":"Id"},"name":{"type":"string","required":true,"read_only":false,"label":"Name"},"tumor_form":{"type":"string","required":true,"read_only":false,"label":"Tumor form"}}},"name":{"type":"string","required":true,"read_only":false,"label":"Name"},"parent":{"type":"string","required":true,"read_only":false,"label":"Parent"},"tissue":{"type":"string","required":true,"read_only":false,"label":"Tissue"},"tumor_form":{"type":"string","required":true,"read_only":false,"label":"Tumor form"}}}}}},"prognostic_summary":{"type":"string","required":true,"read_only":false,"label":"Prognostic summary"},"query":{"type":"nested object","required":true,"read_only":false,"label":"Query"},"treatments":{"type":"array","title":"Treatments","items":{"type":"object","properties":{"abstracts":{"type":"array","title":"Abstracts","items":{"type":"object","properties":{"abstract":{"type":"string","required":true,"read_only":false,"label":"Abstract"},"link":{"type":"string","required":true,"read_only":false,"label":"Link"}}}},"alterations":{"type":"list","required":true,"read_only":false,"label":"Alterations","items":{"type":"string"}},"description":{"type":"string","required":true,"read_only":false,"label":"Description"},"approved_indications":{"type":"list","required":true,"read_only":false,"label":"Approved indications","items":{"type":"field"}},"drugs":{"type":"array","title":"Drugs","items":{"type":"object","properties":{"drug_name":{"type":"string","required":true,"read_only":false,"label":"Drug name"},"ncit_code":{"type":"string","required":true,"read_only":false,"label":"Ncit code"}}}},"fda_level":{"type":"string","required":true,"read_only":false,"label":"Fda level"},"level":{"type":"string","required":true,"read_only":false,"label":"Level"},"level_associated_cancer_type":{"type":"object","title":"Level associated cancer type","properties":{"children":{"type":"nested object","required":false,"read_only":false,"label":"Children"},"code":{"type":"string","required":true,"read_only":false,"label":"Code"},"color":{"type":"string","required":true,"read_only":false,"label":"Color"},"id":{"type":"integer","required":true,"read_only":false,"label":"Id"},"level":{"type":"integer","required":true,"read_only":false,"label":"Level"},"main_type":{"type":"object","title":"Main type","properties":{"id":{"type":"integer","required":true,"read_only":false,"label":"Id"},"name":{"type":"string","required":true,"read_only":false,"label":"Name"},"tumor_form":{"type":"string","required":true,"read_only":false,"label":"Tumor form"}}},"name":{"type":"string","required":true,"read_only":false,"label":"Name"},"parent":{"type":"string","required":true,"read_only":false,"label":"Parent"},"tissue":{"type":"string","required":true,"read_only":false,"label":"Tissue"},"tumor_form":{"type":"string","required":true,"read_only":false,"label":"Tumor form"}}},"pmids":{"type":"list","required":true,"read_only":false,"label":"Pmids","items":{"type":"string"}}}}},"tumor_type_summary":{"type":"string","required":true,"read_only":false,"label":"Tumor type summary"},"variant_exist":{"type":"boolean","required":false,"read_only":false,"label":"Variant exist"},"variant_summary":{"type":"string","required":true,"read_only":false,"label":"Variant summary"},"variant_id":{"type":"integer","required":true,"read_only":false,"label":"Variant id"},"vus":{"type":"boolean","required":false,"read_only":false,"label":"Vus"}}}},"knc_splice_vault":{"type":"array","title":"KNC Splice Vault","items":{"type":"object","properties":{"version":{"type":"string","required":true,"read_only":false,"label":"Version"},"items":{"type":"list","required":true,"read_only":false,"label":"Items","items":{"type":"list"}}}}}}}