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;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;HP:0011463;"Childhood onset";;;MONDO:0100308;"atactic disorder";;;;;;;;;;;;;arbitrary.id;MONDO:0100340;"Friedreich ataxia 1";FXN;HGNC:3951;REJECTED;"16-year-old boy";;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;interpretation.1;COMPLETED;"Genetic analysis of the frataxin gene confirmed two alleles in the normal size range and no evidence of an expansion.";MONDO:0010188;"familial isolated deficiency of vitamin E";CAUSATIVE;"16-year-old boy";PATHOGENIC;ACTIONABLE;GENO:0000136;homozygous;hgvs.c;NM_000370.3(TTPA):c.706del;transcript_reference;NM_000370.3;TTPA;HGNC:12404;variant.1;NP_000361.1:p.(His236IlefsTer28);genomic;refseq:NC_000008.11;63061383;63061382;T;NC_000008.11;GRCh38;63061382;TG;interpretation.2;SOLVED;LOINC:2923-1;"Retinol [Mass/volume] in Serum or Plasma";P16Y;;;60;20;UCUM:ug.dL-1;"microgram per deciliter";UCUM:ug.dL-1;"microgram per deciliter";45;LOINC:1823-4;"Alpha tocopherol [Mass/volume] in Serum or Plasma";;;;;;P16Y;;10;6;UCUM:mg.dL-1;"milligram per deciliter";UCUM:mg.dL-1;"milligram per deciliter";3.9;LOINC:2157-6;"Creatine kinase [Enzymatic activity/volume] in Serum or Plasma";P16Y;198;22;UCUM:U.L-1;"enzyme unit per liter";UCUM:U.L-1;"enzyme unit per liter";80;LOINC:1823-4;"Alpha tocopherol [Mass/volume] in Serum or Plasma";P16Y6M;10;6;UCUM:mg.dL-1;"milligram per deciliter";UCUM:mg.dL-1;"milligram per deciliter";17.34;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;NCIT:C123584;"Favorable Response";DrugCentral:257;atorvastatin;;;;;;;;UNKNOWN_DRUG_TYPE;NCIT:C38288;"Oral Route of Administration";;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;2022-04-21T10:35:00Z;"anonymous biocurator";"Ataxia due to vitamin E deficiency: A case report and updated review";doi:10.1002/ccr3.6303;;2.0.0;ncit;http://purl.obolibrary.org/obo/NCIT_;"NCI Thesaurus";NCIT;http://purl.obolibrary.org/obo/ncit.owl;21.05d;hp;http://purl.obolibrary.org/obo/HP_;"human phenotype ontology";HP;http://purl.obolibrary.org/obo/hp.owl;2022-06-11;mondo;http://purl.obolibrary.org/obo/MONDO_;"Mondo Disease Ontology";MONDO;http://purl.obolibrary.org/obo/mondo.obo;2022-04-04;uberon;http://purl.obolibrary.org/obo/UBERON_;"Uber-anatomy ontology";UBERON;http://purl.obolibrary.org/obo/uberon.owl;2021-07-27;loinc;https://loinc.org/;"Logical Observation Identifiers Names and Codes";LOINC;https://loinc.org;2.73;ucum;https://units-of-measurement.org/;"Unified Code for Units of Measure";UCUM;https://ucum.org;2.1;geno;http://purl.obolibrary.org/obo/GENO_;"Genotype Ontology";GENO;http://purl.obolibrary.org/obo/geno.owl;2022-03-05;drugcentral;https://drugcentral.org/drugcard/;"Drug Central";DrugCentral;https://drugcentral.org/;2022-08-22;;;;;;;;;;;;;P10Y;;;;;;;;HP:0001288;"Gait disturbance";;;;;HP:0012837;Generalized;P10Y;;;;;;HP:0001324;"Muscle weakness";P16Y;HP:0003474;"Somatic sensory dysfunction";P16Y;HP:0002599;"Head titubation";P16Y;HP:0031910;"Abnormal cranial nerve physiology";;;;;;;P16Y;;;;;;HP:0002066;"Gait ataxia";;;;;;;P16Y;;;;;;HP:0001308;"Tongue fasciculations";;;;;P16Y;;;;;HP:0002080;"Intention tremor";;;;;P16Y;;;;;HP:0002075;Dysdiadochokinesis;;;;;P16Y;;;;;HP:0001251;Ataxia;;;;;P16Y;;;;;HP:0001284;Areflexia;;;;;P16Y;;;HP:0011448;"Ankle clonus";;;;;P16Y;;;HP:0003690;"Limb muscle weakness";;"16-year-old boy";UNKNOWN_KARYOTYPE;FEMALE;P10Y;;;
;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;"arbitrary proband id";OMIM:158810;"Bethlem myopathy 1";;;CAUSATIVE;"arbitrary interpretation id";PATHOGENIC;UNKNOWN_ACTIONABILITY;GENO:0000135;heterozygous;hgvs;NM_001848.2:c.877G>A;;;;;COL6A1;HGNC:2211;"variant id";;unspecified_molecule_context;;;;;;;;;A;chr21;GRCh38;45989626;G;;;;;;;;;;;;;;;;;;;;;;;;;;;"arbitrary interpretation id";COMPLETED;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;2021-05-14T10:35:00Z;"anonymous biocurator";"COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report";PMID:30808312;;2.0.0;hp;http://purl.obolibrary.org/obo/HP_;"human phenotype ontology";HP;http://purl.obolibrary.org/obo/hp.owl;2021-08-02;geno;http://purl.obolibrary.org/obo/GENO_;"Genotype Ontology";GENO;http://purl.obolibrary.org/obo/geno.owl;2020-03-08;eco;http://purl.obolibrary.org/obo/ECO_;"Evidence & Conclusion Ontology (ECO)";ECO;http://purl.obolibrary.org/obo/eco.owl;2022-08-05;omim;https://www.omim.org/entry/;"An Online Catalog of Human Genes and Genetic Disorders";OMIM;https://www.omim.org;2022-11-23;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;ECO:0000033;"author statement supported by traceable reference";"COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report";PMID:30808312;;;;;;HP:0003577;"Congenital onset";;;;HP:0001629;"Ventricular septal defect";ECO:0000033;"author statement supported by traceable reference";"COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report";PMID:30808312;;;;;;;;;HP:0000280;"Coarse facial features";;;;;;;;;;ECO:0000033;"author statement supported by traceable reference";"COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report";PMID:30808312;;;;;;HP:0003577;"Congenital onset";;HP:0008689;"Bilateral cryptorchidism";ECO:0000033;"author statement supported by traceable reference";"COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report";PMID:30808312;;;;;;HP:0011461;"Fetal onset";;HP:0001561;Polyhydramnios;ECO:0000033;"author statement supported by traceable reference";"COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report";PMID:30808312;;;;HP:0003577;"Congenital onset";HP:0000054;Micropenis;ECO:0000033;"author statement supported by traceable reference";"COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report";PMID:30808312;;;;HP:0003577;"Congenital onset";HP:0001798;Anonychia;ECO:0000033;"author statement supported by traceable reference";"COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report";PMID:30808312;;;;;;HP:0001320;"Cerebellar vermis hypoplasia";ECO:0000033;"author statement supported by traceable reference";"COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report";PMID:30808312;;;HP:0003593;"Infantile onset";;HP:0000518;Cataract;ECO:0000033;"author statement supported by traceable reference";"COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report";PMID:30808312;;;;HP:0002198;"Dilated fourth ventricle";ECO:0000033;"author statement supported by traceable reference";"COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report";PMID:30808312;;HP:0003577;"Congenital onset";HP:0100333;"Unilateral cleft lip";;"proband A";UNKNOWN_KARYOTYPE;MALE;P6Y3M;;;
;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;MONDO:0005015;"diabetes mellitus";;MONDO:0004994;cardiomyopathy;2020-03-17T00:00:00Z;MONDO:0100096;COVID-19;;;;;;;arbitrary.phenopacket.id;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;LOINC:26474-7;"Lymphocytes [#/volume] in Blood";;2020-03-01T00:00:00Z;2019-09-01T00:00:00Z;;;;;NCIT:C67245;"Thousand Cells";1.4;LOINC:26474-7;"Lymphocytes [#/volume] in Blood";;;;;;;2020-03-20T00:00:00Z;;;;;NCIT:C67245;"Thousand Cells";0.7;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;NCIT:C80473;"Left Ventricular Assist Device";;2016-01-01T00:00:00Z;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;NCIT:C722;Oxygen;2021-02-02T08:22:42Z;2021-02-01T18:58:43Z;NCIT:C67388;"Liter per Minute";2;PATO:0000689;continuous;2021-02-02T12:22:42Z;2021-02-02T08:22:42Z;NCIT:C67388;"Liter per Minute";50;PATO:0000689;continuous;UNKNOWN_DRUG_TYPE;NCIT:C38284;"Nasal Route of Administration";;;;;;;;;;;;CHEBI:41879;dexamethasone;2020-03-30T00:00:00Z;2020-03-20T00:00:00Z;UCUM:mg;milligram;6;NCIT:C125004;"Once Daily";UNKNOWN_DRUG_TYPE;;;;;;;;;;;NCIT:C116648;"Tracheal Intubation";;2020-03-22T00:00:00Z;;;;;;;;;;;;;;;;;;;NCIT:C722;Oxygen;2020-03-28T00:00:00Z;2020-03-22T00:00:00Z;NCIT:C91060;"Centimeters of Water";14;PATO:0000689;continuous;UNKNOWN_DRUG_TYPE;NCIT:C50254;"Positive end Expiratory Pressure Valve Device";NCIT:C84217;Tocilizumab;2020-03-28T00:00:00Z;2020-03-24T00:00:00Z;NCIT:C124458;"Milligram per Kilogram per Dose";4;NCIT:C64529;"Every Four Weeks";UNKNOWN_DRUG_TYPE;2021-08-17T00:00:00Z;"anonymous biocurator";"The Imperfect Cytokine Storm: Severe COVID-19 With ARDS in a Patient on Durable LVAD Support";DOI:10.1016/j.jaccas.2020.04.001;PMID:32292915;2.0.0;hp;http://purl.obolibrary.org/obo/HP_;"human phenotype ontology";HP;http://purl.obolibrary.org/obo/hp.owl;2021-08-02;ncit;http://purl.obolibrary.org/obo/NCIT_;"NCI Thesaurus";NCIT;http://purl.obolibrary.org/obo/ncit.owl;21.05d;mondo;http://purl.obolibrary.org/obo/MONDO_;"Mondo Disease Ontology";MONDO;http://purl.obolibrary.org/obo/mondo.obo;2022-04-04;loinc;https://loinc.org/;"Logical Observation Identifiers Names and Codes";LOINC;https://loinc.org;2.73;pato;http://purl.obolibrary.org/obo/PATO_;"PhenotypicFeature And Trait Ontology";PATO;http://purl.obolibrary.org/obo/pato.owl;2022-08-31;chebi;https://purl.obolibrary.org/obo/CHEBI_;"Chemical Entities of Biological Interest";CHEBI;https://www.ebi.ac.uk/chebi;2022-11-23;ucum;https://units-of-measurement.org/;"Unified Code for Units of Measure";UCUM;https://ucum.org;2.1;;;;;;;;;;;;;;;;;;;;;;;;2021-02-01T05:00:00Z;;;HP:0001945;"Fever ";;;;;;;;;;;;2021-02-01T05:00:00Z;HP:0030157;"Flank pain";;;;;;;;;;;;;;;;;;;;;2021-02-01T05:00:00Z;HP:0000790;Hematuria;;;;;;;;;;;;2021-02-01T05:00:00Z;HP:0012625;"Stage 3 chronic kidney disease";;;;;;2020-03-20T00:00:00Z;2020-03-18T00:00:00Z;;;HP:0003326;Myalgia;;;;;;2020-03-20T00:00:00Z;2020-03-18T00:00:00Z;;;HP:0002014;Diarrhea;;;;;;2020-03-20T00:00:00Z;2020-03-18T00:00:00Z;;;HP:0002094;Dyspnea;;;;;;;;;2020-03-20T00:00:00Z;HP:0033677;"Acute respiratory distress syndrome";;;;;;;;;;;;;;;;;;;;P123542;UNKNOWN_KARYOTYPE;MALE;P70Y;MONDO:0100096;COVID-19;DECEASED
;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;arbitrary.id;MONDO:0010679;"Duchenne muscular dystrophy";;;CAUSATIVE;"10-year old boy";PATHOGENIC;UNKNOWN_ACTIONABILITY;GENO:0000134;hemizygous;hgvs.c;NM_004006.3:c.7310-11543_7359del;transcript_reference;NM_004006.3;;;DMD;HGNC:2928;variant-id;;genomic;;;;;refseq:NC_000023.11;31785736;31774144;1;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;interpretation.id;SOLVED;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;2021-05-14T10:35:00Z;"anonymous biocurator";;;;2.0.0;hp;http://purl.obolibrary.org/obo/HP_;"human phenotype ontology";HP;http://purl.obolibrary.org/obo/hp.owl;2022-06-11;mondo;http://purl.obolibrary.org/obo/MONDO_;"Mondo Disease Ontology";MONDO;http://purl.obolibrary.org/obo/mondo.obo;2022-04-04;geno;http://purl.obolibrary.org/obo/GENO_;"Genotype Ontology";GENO;http://purl.obolibrary.org/obo/geno.owl;2022-03-05;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;P1Y6M;;;;;;;;HP:0031936;"Delayed ability to walk";;;;;;;;;;HP:0011463;"Childhood onset";;HP:0003707;"Calf muscle pseudohypertrophy";;;;;;;;;;;;;;;;;;;HP:0011463;"Childhood onset";;HP:0009046;"Difficulty running";;;;;;;P10Y;;;;;;HP:0003458;"EMG: myopathic abnormalities";;;;;P10Y;;;;;HP:0003236;"Elevated circulating creatine kinase concentration";;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;"10-year old boy";UNKNOWN_KARYOTYPE;MALE;P10Y;;;
;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;1;OMIM:609637;"Holoprosencephaly 5";;;CAUSATIVE;"genomic interpretation id";PATHOGENIC;UNKNOWN_ACTIONABILITY;GENO:0000135;heterozygous;hgvs;NM_007129.3:c.1069C>G;;;;;ZIC2;"HGNC:12873 ";"variant id";;unspecified_molecule_context;;;;;;;;;G;NC_000013.11;GRCh38;99983133;C;;;;;;;;;;;;;;;;;;;;;;;;;;;"arbitrary interpretation id";COMPLETED;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;2021-05-14T10:35:00Z;"anonymous biocurator";"Xiong J, et al., 2019";PMID:30855487;;2.0.0;hp;http://purl.obolibrary.org/obo/HP_;"human phenotype ontology";HP;http://purl.obolibrary.org/obo/hp.owl;2021-08-02;geno;http://purl.obolibrary.org/obo/GENO_;"Genotype Ontology";GENO;http://purl.obolibrary.org/obo/geno.owl;2020-03-08;eco;http://purl.obolibrary.org/obo/ECO_;"Evidence & Conclusion Ontology (ECO)";ECO;http://purl.obolibrary.org/obo/eco.owl;2022-08-05;omim;https://www.omim.org/entry/;"An Online Catalog of Human Genes and Genetic Disorders";OMIM;https://www.omim.org;2022-11-23;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;ECO:0000033;"author statement supported by traceable reference";"Xiong J, et al., 2019";PMID:30855487;;;;;40;;;;;;HP:0000238;Hydrocephalus;ECO:0000033;"author statement supported by traceable reference";"Xiong J, et al., 2019";PMID:30855487;;;;;;HP:0003577;"Congenital onset";;HP:0002507;"Semilobar holoprosencephaly";;;;;;;;;;ECO:0000033;"author statement supported by traceable reference";"Xiong J, et al., 2019";PMID:30855487;;;;;40;;;;HP:0001750;"Single ventricle";ECO:0000033;"author statement supported by traceable reference";"Xiong J, et al., 2019";PMID:30855487;;;P9M;;;;;;HP:0001272;"Cerebellar atrophy";ECO:0000033;"author statement supported by traceable reference";"Xiong J, et al., 2019";PMID:30855487;P9M;;;;;HP:0100702;"Arachnoid cyst";ECO:0000033;"author statement supported by traceable reference";"Xiong J, et al., 2019";PMID:30855487;P9M;;;;;HP:0001272;"Cerebellar atrophy";ECO:0000033;"author statement supported by traceable reference";"Xiong J, et al., 2019";PMID:30855487;;;;HP:0003593;"Infantile onset";HP:0001263;"Global developmental delay";ECO:0000033;"author statement supported by traceable reference";"Xiong J, et al., 2019";PMID:30855487;;40;;;;HP:0001347;Hyperreflexia;;;;;;;;;;;;;;;;;;;;"nine-month old infant";UNKNOWN_KARYOTYPE;FEMALE;P9M;;;
;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;OMIM:154700;"Marfan syndrome";;;;;;;;;;;;;id-C;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;DrugCentral:1610;losartan;2021-03-20T00:00:00Z;2019-03-20T00:00:00Z;UCUM:mg;milligram;30;NCIT:C64496;"Twice Daily";UNKNOWN_DRUG_TYPE;NCIT:C38288;"Oral Route of Administration";;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;2021-05-14T10:35:00Z;"anonymous biocurator";;;;2.0.0;hp;http://purl.obolibrary.org/obo/HP_;"human phenotype ontology";HP;http://purl.obolibrary.org/obo/hp.owl;2021-08-02;omim;https://www.omim.org/entry/;"An Online Catalog of Human Genes and Genetic Disorders";OMIM;https://www.omim.org;2022-11-23;drugcentral;https://drugcentral.org/drugcard/;"Drug Central";DrugCentral;https://drugcentral.org/;2022-08-22;ncit;http://purl.obolibrary.org/obo/NCIT_;"NCI Thesaurus";NCIT;http://purl.obolibrary.org/obo/ncit.owl;21.05d;ucum;https://units-of-measurement.org/;"Unified Code for Units of Measure";UCUM;https://ucum.org;2.1;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;HP:0002616;"Aortic root aneurysm";;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;"proband C";UNKNOWN_KARYOTYPE;FEMALE;P27Y;;;
;;;;;;biosample.1;;;;;;;;;;;;HP:0003798;"Nemaline bodies";;;UBERON:0002378;"muscle of abdomen";NCIT:C51895;"Muscle Biopsy";P1D;UBERON:0002378;"muscle of abdomen";;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;arbitrary.id;MONDO:0014138;"nemaline myopathy 8";;;CAUSATIVE;interpretation.1;PATHOGENIC;UNKNOWN_ACTIONABILITY;GENO:0000135;heterozygous;hgvs.c;NM_152393.4(KLHL40):c.602G>A;transcript_reference;NM_152393.4;;;KLHL40;HGNC:30372;rs397509420;"NM_152393.4(KLHL40):c.602G>A (p.Trp201Ter)";transcript;A;NC_000003.12;42686220;42686219;;;;;;;;;;CAUSATIVE;interpretation.2;PATHOGENIC;UNKNOWN_ACTIONABILITY;GENO:0000135;heterozygous;hgvs.c;NM_152393.4(KLHL40):c.1516A>C;transcript_reference;NM_152393.4;;;KLHL40;HGNC:30372;rs778022582;"NM_152393.4(KLHL40):c.1516A>C (p.Thr506Pro)";transcript;C;NC_000003.12;42688963;42688962;;;;;;interpretation.id;SOLVED;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;2021-05-14T10:35:00Z;"anonymous biocurator";;;;2.0.0;ncit;http://purl.obolibrary.org/obo/NCIT_;"NCI Thesaurus";NCIT;http://purl.obolibrary.org/obo/ncit.owl;21.05d;hp;http://purl.obolibrary.org/obo/HP_;"human phenotype ontology";HP;http://purl.obolibrary.org/obo/hp.owl;2022-02;mondo;http://purl.obolibrary.org/obo/MONDO_;"Mondo Disease Ontology";MONDO;http://purl.obolibrary.org/obo/mondo.obo;2022-04-04;uberon;http://purl.obolibrary.org/obo/UBERON_;"Uber-anatomy ontology";UBERON;http://purl.obolibrary.org/obo/uberon.owl;2021-07-27;geno;http://purl.obolibrary.org/obo/GENO_;"Genotype Ontology";GENO;http://purl.obolibrary.org/obo/geno.owl;2022-03-05;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;23;;;;;;HP:0001558;"Decreased fetal movement";;;;;;;;4;32;;;;HP:0025672;"Fetal skin edema";;;;;;;;;;;;;;;;;4;32;;;;HP:0010557;"Overlapping fingers";;;;;HP:0012827;Borderline;;4;32;;;;HP:0001561;Polyhydramnios;;;;;;;;HP:0003577;"Congenital onset";HP:0030931;"1-minute APGAR score of 4";;;;;;;;HP:0003577;"Congenital onset";HP:0030922;"5-minute APGAR score of 2";;;;;;;;HP:0003577;"Congenital onset";HP:0033469;"10-minute APGAR score of 1";;;;;;;HP:0003577;"Congenital onset";;HP:0012027;"Laryngeal edema";;;;;;HP:0003577;"Congenital onset";HP:0001290;"Generalized hypotonia";;;;;;;;;;;"proband A";UNKNOWN_KARYOTYPE;MALE;P1D;MONDO:0014138;"nemaline myopathy 8";DECEASED
;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;HP:0003581;"Adult onset";UBERON:0004549;"right eye";MONDO:0008327;"exfoliation syndrome";;;;;;;;;;;;;arbitrary.id;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;LOINC:79892-6;"Right eye Intraocular pressure";P71Y1M1D;;;21;10;LOINC:56844-4;"Intraocular pressure of Eye";UCUM:mm[Hg];"millimetres of mercury";14;NCIT:C156778;"Vision Assessment";NCIT:C48570;"Percent Unit";100;NCIT:C87149;"Visual Acuity";;;;;;;;;;SNOMEDCT:397312009;"Intraocular lens anterior chamber depth";P71Y1M1D;21;10;LOINC:56844-4;"Intraocular pressure of Eye";UCUM:mm;millimeter;3.93;SNOMEDCT:397312009;"Intraocular lens anterior chamber depth";P71Y1M1D;21;10;LOINC:56844-4;"Intraocular pressure of Eye";UCUM:mm;millimeter;5.21;NCIT:C156778;"Vision Assessment";NCIT:C48570;"Percent Unit";100;NCIT:C87149;"Visual Acuity";P70Y1W;LOINC:79895-9;"Subjective refraction method";P70Y1W;30;-30;LOINC:79895-9;"Subjective refraction method";UCUM:[diop];diopter;-0.25;SNOMEDCT:252886007;"Refraction assessment (procedure)";30;-30;LOINC:79895-9;"Subjective refraction method";UCUM:[diop];diopter;-0.5;LOINC:79846-2;"Right eye cylindrical refraction";30;-30;LOINC:79895-9;"Subjective refraction method";UCUM:degree;"degree (plane angle)";110;LOINC:9829-8;"Recht eye cylindrical degree";P70Y1W;LOINC:79850-4;"Right eye spherical refraction";P70Y1W;30;-30;LOINC:79895-9;"Subjective refraction method";UCUM:[diop];diopter;-0.25;LOINC:79892-6;"Right eye Intraocular pressure";P71Y1M;21;10;LOINC:56844-4;"Intraocular pressure of Eye";UCUM:mm[Hg];"millimetres of mercury";29;;;UBERON:0004549;"right eye";NCIT:C157809;"Cataract Surgery";P70Y;;;;;;;;;;;;;;;;HP:0500081;Pseudophakia;HP:0000518;cataract;;;UBERON:0004548;"left eye";NCIT:C157809;"Cataract Surgery";P70Y6W;;;;;;;;;;;;;;;;;;;;;;;;;HP:0500081;Pseudophakia;HP:0000518;cataract;HP:0025637;Vasospasm;;;;;;DrugCentral:395;brimonidine;2022-07-07T00:00:00Z;2022-07-07T00:00:00Z;UCUM:mg.kg-1;"milligram per kilogram";0.002;NCIT:C64576;Once;UNKNOWN_DRUG_TYPE;NCIT:C29302;"Ophthalmic Solution";;;HP:0007906;"Ocular hypertension";NCIT:C41331;"Adverse Event";UBERON:0004549;"right eye";LOINC:29031-2;"Right eye YAG mode";P71Y1M;;;;;;;;;;;;;;HP:0500081;Pseudophakia;HP:0000518;cataract;;;;;;;;;;;;;;;;;;;;;;;;;2021-05-14T10:35:00Z;"anonymous biocurator";;;;2.0.0;uberon;http://purl.obolibrary.org/obo/UBERON_;"Uber-anatomy ontology";UBERON;http://purl.obolibrary.org/obo/uberon.owl;2022-08-19;ncit;http://purl.obolibrary.org/obo/NCIT_;"NCI Thesaurus";NCIT;http://purl.obolibrary.org/obo/ncit.owl;22.07d;hp;http://purl.obolibrary.org/obo/HP_;"human phenotype ontology";HP;http://purl.obolibrary.org/obo/hp.owl;2022-06-11;ucum;https://units-of-measurement.org/;"Unified Code for Units of Measure";UCUM;https://ucum.org;2.1;loinc;https://loinc.org/;"Logical Observation Identifiers Names and Codes";LOINC;https://loinc.org;2.73;mondo;http://purl.obolibrary.org/obo/MONDO_;"Mondo Disease Ontology";MONDO;http://purl.obolibrary.org/obo/mondo.obo;2022-04-04;drugcentral;https://drugcentral.org/drugcard/;"Drug Central";DrugCentral;https://drugcentral.org/;2022-08-22;snomedct;https://browser.ihtsdotools.org/?perspective=full&edition=MAIN/2023-03-31&release=&languages=en&conceptId1=;"SNOMED CT";SNOMEDCT;https://www.snomed.org/;2023-03-31;;;;;;;;;;;HP:0012834;Right;P70Y;;;;;;;;HP:0000539;"Abnormality of refraction";;;;;HP:0012834;Right;P71Y1M;;;;;;HP:0000545;Myopia;;;;;;;;;;;;;;HP:0012834;Right;P71Y1M;;;;;;NCIT:C50618;"Intraocular Pressure Increased";;;;;;;;;;;;;HP:0007686;"Abnormal pupillary function";;;;;;;;;;HP:0012629;Phakodonesis;;;;;;;;;;SNOMEDCT:414775001;monovision;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;"proband A";XY;MALE;P70Y;;;
VCF;GRCh38;specimen.1;file://data/fileSomaticWgs.vcf.gz;;;biosample.1;;LOINC:33728-7;"Size.maximum dimension in Tumor";P8M2W;UCUM:mm;millimeter;15;NCIT:C140720;"Retinoblastoma pT3 TNM Finding v8";NCIT:C140711;"Retinoblastoma pN0 TNM Finding v8";NCIT:C35941;"Flexner-Wintersteiner Rosette Formation";NCIT:C132485;"Apoptosis and Necrosis";UBERON:0004548;"left eye";NCIT:C48601;Enucleation;P8M2W;UBERON:0000970;eye;;;;NCIT:C8509;"Primary Neoplasm";;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;NCIT:C140678;"Retinoblastoma cM0 TNM Finding v8";;;;;LOINC:LA24739-7;"Group E";P4M;;;UBERON:0004548;"left eye";NCIT:C7541;Retinoblastoma;;;;;;;;VCF;GRCh38;;sample1;file://data/germlineWgs.vcf.gz;arbitrary.id;NCIT:C7541;Retinoblastoma;;;CAUSATIVE;"proband A";PATHOGENIC;ACTIONABLE;;;;;;;mosaicism;40.0%;;;variant-id;;unspecified_molecule_context;;;;;refseq:NC_000013.14;61706822;25981249;1;;;;;;CAUSATIVE;biosample.1;PATHOGENIC;ACTIONABLE;GENO:0000135;heterozygous;hgvs.c;NM_000321.2:c.958C>T;transcript_reference;NM_000321.2;allele-frequency;25.0%;RB1;HGNC:9884;rs121913300;"RB1 c.958C>T (p.Arg320Ter)";genomic;T;refseq:NC_000013.11;48367512;48367511;T;NC_000013.11;GRCh38;48367512;C;interpretation.id;SOLVED;;;;;;;;;;;;;;;;;;;;;;;;;;;;;LOINC:79893-4;"Left eye Intraocular pressure";P6M;;;21;10;LOINC:56844-4;"Intraocular pressure of Eye";UCUM:mm[Hg];"millimetres of mercury";25;LOINC:79892-6;"Right eye Intraocular pressure";;;;;;P6M;;21;10;LOINC:56844-4;"Intraocular pressure of Eye";UCUM:mm[Hg];"millimetres of mercury";15;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;HP:0025637;Vasospasm;;;;;;;;;DrugCentral:1678;melphalan;2020-09-02T00:00:00Z;2020-09-02T00:00:00Z;UCUM:mg.kg-1;"milligram per kilogram";0.4;NCIT:C64576;Once;UNKNOWN_DRUG_TYPE;NCIT:C38222;"Intraarterial Route of Administration";NCIT:C62220;Cure;NCIT:C7541;Retinoblastoma;NCIT:C41331;"Adverse Event";;;;;;P8M;NCIT:C10894;Carboplatin/Etoposide/Vincristine;COMPLETED;P7M;;;;;;;;;;;;;;;;;;;;NCIT:C62220;Cure;NCIT:C7541;Retinoblastoma;;;UBERON:0004548;"left eye";NCIT:C48601;Enucleation;P8M2W;;;;;;;;;;;;;NCIT:C62220;Cure;NCIT:C7541;Retinoblastoma;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;2021-05-14T10:35:00Z;"anonymous biocurator";;;;2.0.0;ncit;http://purl.obolibrary.org/obo/NCIT_;"NCI Thesaurus";NCIT;http://purl.obolibrary.org/obo/ncit.owl;21.05d;efo;http://purl.obolibrary.org/obo/EFO_;"Experimental Factor Ontology";EFO;http://www.ebi.ac.uk/efo/efo.owl;3.34.0;uberon;http://purl.obolibrary.org/obo/UBERON_;"Uber-anatomy ontology";UBERON;http://purl.obolibrary.org/obo/uberon.owl;2021-07-27;ncbitaxon;http://purl.obolibrary.org/obo/NCBITaxon_;"NCBI organismal classification";NCBITaxon;http://purl.obolibrary.org/obo/ncbitaxon.owl;2021-06-10;hp;http://purl.obolibrary.org/obo/HP_;"human phenotype ontology";HP;http://purl.obolibrary.org/obo/hp.owl;2022-06-11;loinc;https://loinc.org/;"Logical Observation Identifiers Names and Codes";LOINC;https://loinc.org;2.73;ucum;https://units-of-measurement.org/;"Unified Code for Units of Measure";UCUM;https://ucum.org;2.1;geno;http://purl.obolibrary.org/obo/GENO_;"Genotype Ontology";GENO;http://purl.obolibrary.org/obo/geno.owl;2022-03-05;drugcentral;https://drugcentral.org/drugcard/;"Drug Central";DrugCentral;https://drugcentral.org/;2022-08-22;;;;;HP:0012834;Right;P3M;;;;;;;;HP:0030084;Clinodactyly;;;;;HP:0012835;Left;P4M;;;;;;HP:0000555;Leukocoria;;;;;;;;;;;;;;HP:0012835;Left;P5M15D;;;;;;HP:0000486;Strabismus;;;;;HP:0012835;Left;P6M;;;;;;HP:0000541;"Retinal detachment";;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;"proband A";XX;FEMALE;P6M;;;
;;;;;;"biosample 1";"proband A";;;;;;;;;;;;;;;;;NCIT:C15189;Biopsy;;NCIT:C12389;Esophagus;P49Y2M;;;NCIT:C4813;"Recurrent Malignant Neoplasm";NCIT:C131711;"Human Papillomavirus-18 Positive";NCIT:C4024;"Esophageal Squamous Cell Carcinoma";"biosample 2";"proband A";NCIT:C15189;Biopsy;NCIT:C139196;"Esophageal Lymph Node";P48Y3M;NCIT:C84509;"Primary Malignant Neoplasm";;;"biosample 3";"proband A";NCIT:C15189;Biopsy;NCIT:C12468;Lung;P50Y7M;NCIT:C3261;"Metastatic Neoplasm";;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;NCIT:C48724;"T2 Stage Finding";NCIT:C48706;"N1 Stage Finding";NCIT:C48699;"M0 Stage Finding";;;;;;;;NCIT:C4024;"Esophageal Squamous Cell Carcinoma";;;;;;;;;;;;;arbitrary.id;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;2021-05-14T10:35:00Z;"anonymous biocurator";;;;2.0.0;ncit;http://purl.obolibrary.org/obo/NCIT_;"NCI Thesaurus";NCIT;http://purl.obolibrary.org/obo/ncit.owl;21.05d;efo;http://purl.obolibrary.org/obo/EFO_;"Experimental Factor Ontology";EFO;http://www.ebi.ac.uk/efo/efo.owl;3.34.0;uberon;http://purl.obolibrary.org/obo/UBERON_;"Uber-anatomy ontology";UBERON;http://purl.obolibrary.org/obo/uberon.owl;2021-07-27;ncbitaxon;http://purl.obolibrary.org/obo/NCBITaxon_;"NCBI organismal classification";NCBITaxon;http://purl.obolibrary.org/obo/ncbitaxon.owl;2021-06-10;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;"proband A";UNKNOWN_KARYOTYPE;MALE;P38Y;;;
;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;P55Y;;;;;MONDO:0005148;"type 2 diabetes mellitus";P55Y;MONDO:0001134;"essential hypertension";;;;;;;;;;arbitrary.id;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;LOINC:2157-6;"Creatine kinase [Enzymatic activity/volume] in Serum or Plasma";;;;200;20;UCUM:U.L-1;"enzyme unit per liter";UCUM:U.L-1;"enzyme unit per liter";4292;LOINC:1742-6;"Alanine aminotransferase [Enzymatic activity/volume] in Serum or Plasma";;;;;;;;36;4;UCUM:U.L-1;"enzyme unit per liter";UCUM:U.L-1;"enzyme unit per liter";234;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;HP:0003198;Myopathy;;;;;;;;;DrugCentral:257;atorvastatin;2020-09-02T00:00:00Z;2010-09-02T00:00:00Z;UCUM:mg;milligram;10;NCIT:C125004;"Once Daily";UNKNOWN_DRUG_TYPE;NCIT:C38288;"Oral Route of Administration";;;;;NCIT:C41331;"Adverse Event";;;;;;;;;;;DrugCentral:74;"acetylsalicylic acid";2020-09-02T00:00:00Z;2010-09-02T00:00:00Z;UCUM:mg;milligram;75;NCIT:C125004;"Once Daily";;;;;;;;UNKNOWN_DRUG_TYPE;NCIT:C38288;"Oral Route of Administration";;;;;;;;;;;;DrugCentral:2356;ramipril;2020-09-02T00:00:00Z;2010-09-02T00:00:00Z;UCUM:mg;milligram;10;NCIT:C125004;"Once Daily";UNKNOWN_DRUG_TYPE;NCIT:C38288;"Oral Route of Administration";;;;;;;;;;;;;DrugCentral:1725;metformin;2020-09-02T00:00:00Z;2010-09-02T00:00:00Z;UCUM:mg;milligram;500;NCIT:C64527;"Three Times Daily";UNKNOWN_DRUG_TYPE;NCIT:C38288;"Oral Route of Administration";;;;;NCIT:C123584;"Favorable Response";NCIT:C121331;"Intravenous Immunoglobulin Therapy";2021-03-02T00:00:00Z;2020-09-02T00:00:00Z;UCUM:g.kg-1;"gram per kilogram";1.6;NCIT:C89788;"Every Six Weeks";UNKNOWN_DRUG_TYPE;NCIT:C38276;"Intravenous Route of Administration";;;;;;;;;;;2022-04-21T10:35:00Z;"anonymous biocurator";"Severe statin-induced autoimmune myopathy successfully treated with intravenous immunoglobulin";PMID:32444443;;2.0.0;ncit;http://purl.obolibrary.org/obo/NCIT_;"NCI Thesaurus";NCIT;http://purl.obolibrary.org/obo/ncit.owl;21.05d;hp;http://purl.obolibrary.org/obo/HP_;"human phenotype ontology";HP;http://purl.obolibrary.org/obo/hp.owl;2022-06-11;loinc;https://loinc.org/;"Logical Observation Identifiers Names and Codes";LOINC;https://loinc.org;2.73;ucum;https://units-of-measurement.org/;"Unified Code for Units of Measure";UCUM;https://ucum.org;2.1;mondo;http://purl.obolibrary.org/obo/MONDO_;"Mondo Disease Ontology";MONDO;http://purl.obolibrary.org/obo/mondo.obo;2022-04-04;drugcentral;https://drugcentral.org/drugcard/;"Drug Central";DrugCentral;https://drugcentral.org/;2022-08-22;;;;;;;;;;;;;;;;;;;;;;;;;P65Y;;;;;;;;HP:0008994;"Proximal muscle weakness in lower limbs";;;;;;;P65Y;;;;;;HP:0007289;"Limb fasciculations";;;;;;;;;;;;;;;;P65Y;;;;;;HP:0008956;"Proximal lower limb amyotrophy";;;;;;;P65Y;;;;;;HP:0003808;"Abnormal muscle tone";;;;;P65Y;;;;;HP:0003391;"Gowers sign";;;;;P65Y;;;;;HP:0003551;"Difficulty climbing stairs";;;;;P65Y;;;;;HP:0006886;"Impaired distal vibration sensation";;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;"65-year-old man";UNKNOWN_KARYOTYPE;MALE;P65Y;;;
;;;;NCIT:C5596;"Prostate Acinar Adenocarcinoma";"prostate biosample ID";patient1;;;;;;;;;;;;;;;;;NCIT:C15189;Biopsy;;UBERON:0002367;"prostate gland";P52Y2M;NCIT:C28091;"Gleason Score 7";NCIT:C95606;"Second Primary Malignant Neoplasm";;;NCIT:C38757;"Negative Finding";"right ureter biosample ID";patient1;NCIT:C15189;Biopsy;UBERON:0001222;"right ureter";P52Y2M;;;NCIT:C38757;"Negative Finding";"left ureter biosample ID";patient1;NCIT:C15189;Biopsy;UBERON:0001223;"left ureter";P52Y2M;;;"Urothelial carcinoma sample";vcf;GRCh38;BS342730;file://data/genomes/urothelial_ca_wgs.vcf.gz;NCIT:C39853;"Infiltrating Urothelial Carcinoma";"bladder biopsy id";patient1;NCIT:C5189;"Radical Cystoprostatectomy";UBERON:0001256;"wall of urinary bladder";P52Y2M;NCIT:C84509;"Primary Malignant Neoplasm";"lymph node metastasis sample";vcf;GRCh38;BS730275;file://data/genomes/metastasis_wgs.vcf.gz;"pelvic lymph node biosample ID";patient1;NCIT:C15189;Biopsy;UBERON:0015876;"pelvic lymph node";P52Y2M;NCIT:C3261;"Metastatic Neoplasm";NCIT:C48766;"pT2b Stage Finding";NCIT:C48750;"pN2 Stage Finding";NCIT:C48700;"M1 Stage Finding";NCIT:C27971;"Stage IV";;;;;;NCIT:C39853;"Infiltrating Urothelial Carcinoma";;;;;;;"Matched normal germline sample";vcf;GRCh38;NA12345;;file://data/genomes/germline_wgs.vcf.gz;arbitrary.id;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;2021-05-14T10:35:00Z;"anonymous biocurator";;;;2.0.0;ncit;http://purl.obolibrary.org/obo/NCIT_;"NCI Thesaurus";NCIT;http://purl.obolibrary.org/obo/ncit.owl;21.05d;efo;http://purl.obolibrary.org/obo/EFO_;"Experimental Factor Ontology";EFO;http://www.ebi.ac.uk/efo/efo.owl;3.34.0;uberon;http://purl.obolibrary.org/obo/UBERON_;"Uber-anatomy ontology";UBERON;http://purl.obolibrary.org/obo/uberon.owl;2021-07-27;ncbitaxon;http://purl.obolibrary.org/obo/NCBITaxon_;"NCBI organismal classification";NCBITaxon;http://purl.obolibrary.org/obo/ncbitaxon.owl;2021-06-10;hp;http://purl.obolibrary.org/obo/HP_;"human phenotype ontology";HP;http://purl.obolibrary.org/obo/hp.owl;2022-06-11;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;HP:0012828;Severe;HP:0100518;Dysuria;;;;;;;;;;;;;HP:0000790;Hematuria;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;1964-03-15T00:00:00Z;patient1;UNKNOWN_KARYOTYPE;MALE;;;;
;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;P4D;;;;;MONDO:0016649;"Warburg micro syndrome";;;;;;;;;;;;;id.1;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;2022-04-17T10:35:00Z;biocurator;;;;2.0.0;hp;http://purl.obolibrary.org/obo/HP_;"human phenotype ontology";HP;http://purl.obolibrary.org/obo/hp.owl;2022-04-15;mondo;http://purl.obolibrary.org/obo/MONDO_;"Mondo Disease Ontology";MONDO;http://purl.obolibrary.org/obo/mondo.obo;v2022-04-04;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;2;27;;;;;;HP:0034248;"Increased fetal lens echogenicity";;;;;;;;2;27;;;;HP:0000568;Microphthalmia;;;;;;;;;;;;;;;;P4D;;;;;;HP:0000369;"Low-set ears";;;;;;;P4D;;;;;;HP:0008936;"Axial hypotonia";;;;;P4D;;;;;HP:0000568;Microphthalmia;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;;case1;UNKNOWN_KARYOTYPE;MALE;P4D;;;