mirror of
https://github.com/dnpm-dip/mv64e-mtb-dto-dotnet.git
synced 2025-07-01 18:32:54 +00:00
2813 lines
85 KiB
JSON
2813 lines
85 KiB
JSON
{
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"gender": {
|
|
"code": "female",
|
|
"display": "Weiblich",
|
|
"system": "Gender"
|
|
},
|
|
"birthDate": "1994-01-04",
|
|
"dateOfDeath": "2010-01-04",
|
|
"healthInsurance": {
|
|
"type": {
|
|
"code": "GKV",
|
|
"display": "gesetzliche Krankenversicherung",
|
|
"system": "http://fhir.de/CodeSystem/versicherungsart-de-basis"
|
|
},
|
|
"reference": {
|
|
"id": "1234567890",
|
|
"system": "https://www.dguv.de/arge-ik",
|
|
"display": "AOK",
|
|
"type": "HealthInsurance"
|
|
}
|
|
},
|
|
"address": {
|
|
"municipalityCode": "12345"
|
|
},
|
|
"age": {
|
|
"value": 16,
|
|
"unit": "Years"
|
|
},
|
|
"vitalStatus": {
|
|
"code": "deceased",
|
|
"display": "Verstorben",
|
|
"system": "dnpm-dip/patient/vital-status"
|
|
}
|
|
},
|
|
"episodesOfCare": [
|
|
{
|
|
"id": "4bdf2967-2e9f-4fac-9210-764918dc9e7e",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"period": {
|
|
"start": "2024-12-18"
|
|
},
|
|
"diagnoses": [
|
|
{
|
|
"id": "fd3a3a67-bfb6-4101-8516-d6f34e779de4",
|
|
"type": "MTBDiagnosis"
|
|
}
|
|
]
|
|
}
|
|
],
|
|
"diagnoses": [
|
|
{
|
|
"id": "fd3a3a67-bfb6-4101-8516-d6f34e779de4",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"recordedOn": "2006-05-04",
|
|
"type": {
|
|
"history": [
|
|
{
|
|
"value": {
|
|
"code": "main",
|
|
"display": "Hauptdiagnose",
|
|
"system": "dnpm-dip/mtb/diagnosis/type"
|
|
},
|
|
"date": "2006-05-04"
|
|
}
|
|
]
|
|
},
|
|
"code": {
|
|
"code": "C54.0",
|
|
"display": "Bösartige Neubildung: Isthmus uteri",
|
|
"system": "http://fhir.de/CodeSystem/bfarm/icd-10-gm",
|
|
"version": "2025"
|
|
},
|
|
"topography": {
|
|
"code": "C54.0",
|
|
"display": "Isthmus uteri",
|
|
"system": "urn:oid:2.16.840.1.113883.6.43.1",
|
|
"version": "Zweite Revision"
|
|
},
|
|
"grading": {
|
|
"history": [
|
|
{
|
|
"date": "2006-05-04",
|
|
"codes": [
|
|
{
|
|
"code": "H",
|
|
"display": "H = high grade (G3 oder G4)",
|
|
"system": "https://www.basisdatensatz.de/feld/161/grading"
|
|
},
|
|
{
|
|
"code": "3",
|
|
"display": "Anaplastic astrocytoma",
|
|
"system": "dnpm-dip/mtb/who-grading-cns-tumors",
|
|
"version": "2021"
|
|
}
|
|
]
|
|
}
|
|
]
|
|
},
|
|
"staging": {
|
|
"history": [
|
|
{
|
|
"date": "2006-05-04",
|
|
"method": {
|
|
"code": "clinical",
|
|
"display": "Klinisch",
|
|
"system": "dnpm-dip/mtb/tumor-staging/method"
|
|
},
|
|
"tnmClassification": {
|
|
"tumor": {
|
|
"code": "Tx",
|
|
"system": "UICC"
|
|
},
|
|
"nodes": {
|
|
"code": "N0",
|
|
"system": "UICC"
|
|
},
|
|
"metastasis": {
|
|
"code": "M0",
|
|
"system": "UICC"
|
|
}
|
|
},
|
|
"otherClassifications": [
|
|
{
|
|
"code": "metastasized",
|
|
"display": "Metastasiert",
|
|
"system": "dnpm-dip/mtb/diagnosis/kds-tumor-spread"
|
|
}
|
|
]
|
|
}
|
|
]
|
|
},
|
|
"guidelineTreatmentStatus": {
|
|
"code": "non-exhausted",
|
|
"display": "Leitlinien nicht ausgeschöpft",
|
|
"system": "dnpm-dip/mtb/diagnosis/guideline-treatment-status"
|
|
},
|
|
"notes": [
|
|
"Notes on the tumor diagnosis..."
|
|
]
|
|
}
|
|
],
|
|
"guidelineTherapies": [
|
|
{
|
|
"id": "63d3a2df-c1c7-40b6-9b4c-796b7f67e098",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"reason": {
|
|
"id": "fd3a3a67-bfb6-4101-8516-d6f34e779de4",
|
|
"display": "Bösartige Neubildung: Isthmus uteri",
|
|
"type": "MTBDiagnosis"
|
|
},
|
|
"therapyLine": 2,
|
|
"intent": {
|
|
"code": "P",
|
|
"display": "Palliativ",
|
|
"system": "dnpm-dip/therapy/intent"
|
|
},
|
|
"category": {
|
|
"code": "N",
|
|
"display": "Neoadjuvant",
|
|
"system": "dnpm-dip/therapy/category"
|
|
},
|
|
"recordedOn": "2025-06-18",
|
|
"status": {
|
|
"code": "stopped",
|
|
"display": "Abgebrochen",
|
|
"system": "dnpm-dip/therapy/status"
|
|
},
|
|
"statusReason": {
|
|
"code": "progression",
|
|
"display": "Progression",
|
|
"system": "dnpm-dip/therapy/status-reason"
|
|
},
|
|
"period": {
|
|
"start": "2023-10-18",
|
|
"end": "2024-06-19"
|
|
},
|
|
"medication": [
|
|
{
|
|
"code": "L01EX28",
|
|
"display": "Repotrectinib",
|
|
"system": "http://fhir.de/CodeSystem/bfarm/atc",
|
|
"version": "2025"
|
|
}
|
|
],
|
|
"notes": [
|
|
"Notes on the therapy..."
|
|
]
|
|
},
|
|
{
|
|
"id": "c8b0432c-f190-4dfe-a22a-0d00969ccdce",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"reason": {
|
|
"id": "fd3a3a67-bfb6-4101-8516-d6f34e779de4",
|
|
"display": "Bösartige Neubildung: Isthmus uteri",
|
|
"type": "MTBDiagnosis"
|
|
},
|
|
"therapyLine": 2,
|
|
"intent": {
|
|
"code": "S",
|
|
"display": "Sonstiges",
|
|
"system": "dnpm-dip/therapy/intent"
|
|
},
|
|
"category": {
|
|
"code": "N",
|
|
"display": "Neoadjuvant",
|
|
"system": "dnpm-dip/therapy/category"
|
|
},
|
|
"recordedOn": "2025-06-18",
|
|
"status": {
|
|
"code": "stopped",
|
|
"display": "Abgebrochen",
|
|
"system": "dnpm-dip/therapy/status"
|
|
},
|
|
"statusReason": {
|
|
"code": "progression",
|
|
"display": "Progression",
|
|
"system": "dnpm-dip/therapy/status-reason"
|
|
},
|
|
"period": {
|
|
"start": "2023-10-18",
|
|
"end": "2024-05-01"
|
|
},
|
|
"medication": [
|
|
{
|
|
"code": "L01XX86",
|
|
"display": "Calaspargase pegol",
|
|
"system": "http://fhir.de/CodeSystem/bfarm/atc",
|
|
"version": "2025"
|
|
}
|
|
],
|
|
"notes": [
|
|
"Notes on the therapy..."
|
|
]
|
|
}
|
|
],
|
|
"guidelineProcedures": [
|
|
{
|
|
"id": "380e2338-5cab-45f3-83f1-7e655b560c7c",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"reason": {
|
|
"id": "fd3a3a67-bfb6-4101-8516-d6f34e779de4",
|
|
"display": "Bösartige Neubildung: Isthmus uteri",
|
|
"type": "MTBDiagnosis"
|
|
},
|
|
"therapyLine": 3,
|
|
"intent": {
|
|
"code": "K",
|
|
"display": "Kurativ",
|
|
"system": "dnpm-dip/therapy/intent"
|
|
},
|
|
"code": {
|
|
"code": "surgery",
|
|
"display": "OP",
|
|
"system": "dnpm-dip/mtb/procedure/type"
|
|
},
|
|
"status": {
|
|
"code": "completed",
|
|
"display": "Abgeschlossen",
|
|
"system": "dnpm-dip/therapy/status"
|
|
},
|
|
"statusReason": {
|
|
"code": "chronic-remission",
|
|
"display": "Anhaltende Remission",
|
|
"system": "dnpm-dip/therapy/status-reason"
|
|
},
|
|
"recordedOn": "2025-06-18",
|
|
"period": {
|
|
"start": "2024-12-18"
|
|
},
|
|
"notes": [
|
|
"Notes on the therapeutic procedure..."
|
|
]
|
|
},
|
|
{
|
|
"id": "52a639e2-a857-4d36-b115-9537542207f8",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"reason": {
|
|
"id": "fd3a3a67-bfb6-4101-8516-d6f34e779de4",
|
|
"display": "Bösartige Neubildung: Isthmus uteri",
|
|
"type": "MTBDiagnosis"
|
|
},
|
|
"therapyLine": 5,
|
|
"intent": {
|
|
"code": "P",
|
|
"display": "Palliativ",
|
|
"system": "dnpm-dip/therapy/intent"
|
|
},
|
|
"code": {
|
|
"code": "surgery",
|
|
"display": "OP",
|
|
"system": "dnpm-dip/mtb/procedure/type"
|
|
},
|
|
"status": {
|
|
"code": "stopped",
|
|
"display": "Abgebrochen",
|
|
"system": "dnpm-dip/therapy/status"
|
|
},
|
|
"statusReason": {
|
|
"code": "patient-refusal",
|
|
"display": "Therapie durch Patient abgelehnt",
|
|
"system": "dnpm-dip/therapy/status-reason"
|
|
},
|
|
"recordedOn": "2025-06-18",
|
|
"period": {
|
|
"start": "2024-12-18"
|
|
},
|
|
"notes": [
|
|
"Notes on the therapeutic procedure..."
|
|
]
|
|
}
|
|
],
|
|
"performanceStatus": [
|
|
{
|
|
"id": "fa501ef1-8861-495c-b267-0ebf25eab69d",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"effectiveDate": "2025-06-18",
|
|
"value": {
|
|
"code": "5",
|
|
"display": "ECOG 5",
|
|
"system": "ECOG-Performance-Status"
|
|
}
|
|
}
|
|
],
|
|
"specimens": [
|
|
{
|
|
"id": "ca83408d-7ad5-4998-ab2b-a8f705cc929d",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"diagnosis": {
|
|
"id": "fd3a3a67-bfb6-4101-8516-d6f34e779de4",
|
|
"type": "MTBDiagnosis"
|
|
},
|
|
"type": {
|
|
"code": "fresh-tissue",
|
|
"display": "Frischgewebe",
|
|
"system": "dnpm-dip/mtb/tumor-specimen/type"
|
|
},
|
|
"collection": {
|
|
"date": "2025-06-18",
|
|
"method": {
|
|
"code": "biopsy",
|
|
"display": "Biopsie",
|
|
"system": "dnpm-dip/mtb/tumor-specimen/collection/method"
|
|
},
|
|
"localization": {
|
|
"code": "local-recurrence",
|
|
"display": "Lokalrezidiv",
|
|
"system": "dnpm-dip/mtb/tumor-specimen/collection/localization"
|
|
}
|
|
}
|
|
}
|
|
],
|
|
"priorDiagnosticReports": [
|
|
{
|
|
"id": "c628b8ee-cb29-48e7-961f-2808ca4005ed",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"performer": {
|
|
"id": "xyz",
|
|
"display": "Molekular-Pathologie UKx",
|
|
"type": "Institute"
|
|
},
|
|
"issuedOn": "2025-06-18",
|
|
"specimen": {
|
|
"id": "ca83408d-7ad5-4998-ab2b-a8f705cc929d",
|
|
"type": "TumorSpecimen"
|
|
},
|
|
"type": {
|
|
"code": "gene-panel",
|
|
"display": "Genpanel",
|
|
"system": "dnpm-dip/mtb/molecular-diagnostics/type"
|
|
},
|
|
"results": [
|
|
"Result of diagnostics..."
|
|
]
|
|
}
|
|
],
|
|
"histologyReports": [
|
|
{
|
|
"id": "818d2577-989b-46dc-bd9a-4d5416b4dd11",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"specimen": {
|
|
"id": "ca83408d-7ad5-4998-ab2b-a8f705cc929d",
|
|
"type": "TumorSpecimen"
|
|
},
|
|
"issuedOn": "2025-06-18",
|
|
"results": {
|
|
"tumorMorphology": {
|
|
"id": "fd271a56-9287-40a2-ac18-f33874c91170",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"specimen": {
|
|
"id": "ca83408d-7ad5-4998-ab2b-a8f705cc929d",
|
|
"type": "TumorSpecimen"
|
|
},
|
|
"value": {
|
|
"code": "9725/1",
|
|
"display": "Hydroa-vacciniform-lymphoproliferative Erkrankung",
|
|
"system": "urn:oid:2.16.840.1.113883.6.43.1",
|
|
"version": "Zweite Revision"
|
|
},
|
|
"note": "Notes..."
|
|
},
|
|
"tumorCellContent": {
|
|
"id": "856a7ed6-fc28-4beb-a0bf-c96895c1c2bb",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"specimen": {
|
|
"id": "ca83408d-7ad5-4998-ab2b-a8f705cc929d",
|
|
"type": "TumorSpecimen"
|
|
},
|
|
"method": {
|
|
"code": "histologic",
|
|
"display": "Histologisch",
|
|
"system": "dnpm-dip/mtb/tumor-cell-content/method"
|
|
},
|
|
"value": 0.7691964184191502
|
|
}
|
|
}
|
|
}
|
|
],
|
|
"ihcReports": [
|
|
{
|
|
"id": "cfded8da-7ca9-4e54-adfc-e3a723a2aaec",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"specimen": {
|
|
"id": "ca83408d-7ad5-4998-ab2b-a8f705cc929d",
|
|
"type": "TumorSpecimen"
|
|
},
|
|
"issuedOn": "2025-06-18",
|
|
"results": {
|
|
"proteinExpression": [
|
|
{
|
|
"id": "71b2cbc9-c250-4fdf-95f8-11ef68c7119c",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"protein": {
|
|
"code": "HGNC:3236",
|
|
"display": "EGFR",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"value": {
|
|
"code": "3+",
|
|
"display": "3+",
|
|
"system": "dnpm-dip/mtb/ihc/protein-expression/result"
|
|
},
|
|
"tpsScore": 45,
|
|
"icScore": {
|
|
"code": "3",
|
|
"display": ">= 10%",
|
|
"system": "dnpm-dip/mtb/ihc/protein-expression/ic-score"
|
|
},
|
|
"tcScore": {
|
|
"code": "4",
|
|
"display": ">= 25%",
|
|
"system": "dnpm-dip/mtb/ihc/protein-expression/tc-score"
|
|
}
|
|
},
|
|
{
|
|
"id": "6137eab8-f33b-4f98-a9b3-78589815cb1b",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"protein": {
|
|
"code": "HGNC:76",
|
|
"display": "ABL1",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"value": {
|
|
"code": "unknown",
|
|
"display": "untersucht, kein Ergebnis",
|
|
"system": "dnpm-dip/mtb/ihc/protein-expression/result"
|
|
},
|
|
"tpsScore": 82,
|
|
"icScore": {
|
|
"code": "1",
|
|
"display": ">= 1%",
|
|
"system": "dnpm-dip/mtb/ihc/protein-expression/ic-score"
|
|
},
|
|
"tcScore": {
|
|
"code": "4",
|
|
"display": ">= 25%",
|
|
"system": "dnpm-dip/mtb/ihc/protein-expression/tc-score"
|
|
}
|
|
},
|
|
{
|
|
"id": "13725397-cb4a-4c66-a616-925c692e7a5b",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"protein": {
|
|
"code": "HGNC:391",
|
|
"display": "AKT1",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"value": {
|
|
"code": "unknown",
|
|
"display": "untersucht, kein Ergebnis",
|
|
"system": "dnpm-dip/mtb/ihc/protein-expression/result"
|
|
},
|
|
"tpsScore": 10,
|
|
"icScore": {
|
|
"code": "2",
|
|
"display": ">= 5%",
|
|
"system": "dnpm-dip/mtb/ihc/protein-expression/ic-score"
|
|
},
|
|
"tcScore": {
|
|
"code": "1",
|
|
"display": ">= 1%",
|
|
"system": "dnpm-dip/mtb/ihc/protein-expression/tc-score"
|
|
}
|
|
},
|
|
{
|
|
"id": "3eeb2b9d-d482-4e53-bc74-facb50bd9ea3",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"protein": {
|
|
"code": "HGNC:21298",
|
|
"display": "AACS",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"value": {
|
|
"code": "not-exp",
|
|
"display": "Nicht exprimiert",
|
|
"system": "dnpm-dip/mtb/ihc/protein-expression/result"
|
|
},
|
|
"tpsScore": 10,
|
|
"icScore": {
|
|
"code": "1",
|
|
"display": ">= 1%",
|
|
"system": "dnpm-dip/mtb/ihc/protein-expression/ic-score"
|
|
},
|
|
"tcScore": {
|
|
"code": "1",
|
|
"display": ">= 1%",
|
|
"system": "dnpm-dip/mtb/ihc/protein-expression/tc-score"
|
|
}
|
|
},
|
|
{
|
|
"id": "800d7a08-147b-45aa-9909-1ce5fea971e7",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"protein": {
|
|
"code": "HGNC:21298",
|
|
"display": "AACS",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"value": {
|
|
"code": "2+",
|
|
"display": "2+",
|
|
"system": "dnpm-dip/mtb/ihc/protein-expression/result"
|
|
},
|
|
"tpsScore": 42,
|
|
"icScore": {
|
|
"code": "1",
|
|
"display": ">= 1%",
|
|
"system": "dnpm-dip/mtb/ihc/protein-expression/ic-score"
|
|
},
|
|
"tcScore": {
|
|
"code": "4",
|
|
"display": ">= 25%",
|
|
"system": "dnpm-dip/mtb/ihc/protein-expression/tc-score"
|
|
}
|
|
},
|
|
{
|
|
"id": "8a81b46f-6d46-4602-bc37-7ff171b7a112",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"protein": {
|
|
"code": "HGNC:1753",
|
|
"display": "CDH13",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"value": {
|
|
"code": "not-exp",
|
|
"display": "Nicht exprimiert",
|
|
"system": "dnpm-dip/mtb/ihc/protein-expression/result"
|
|
},
|
|
"tpsScore": 44,
|
|
"icScore": {
|
|
"code": "1",
|
|
"display": ">= 1%",
|
|
"system": "dnpm-dip/mtb/ihc/protein-expression/ic-score"
|
|
},
|
|
"tcScore": {
|
|
"code": "0",
|
|
"display": "< 1%",
|
|
"system": "dnpm-dip/mtb/ihc/protein-expression/tc-score"
|
|
}
|
|
},
|
|
{
|
|
"id": "2ca95d9c-cffb-4268-a448-e9df5bc1e065",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"protein": {
|
|
"code": "HGNC:25829",
|
|
"display": "ABRAXAS1",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"value": {
|
|
"code": "exp",
|
|
"display": "Exprimiert",
|
|
"system": "dnpm-dip/mtb/ihc/protein-expression/result"
|
|
},
|
|
"tpsScore": 70,
|
|
"icScore": {
|
|
"code": "3",
|
|
"display": ">= 10%",
|
|
"system": "dnpm-dip/mtb/ihc/protein-expression/ic-score"
|
|
},
|
|
"tcScore": {
|
|
"code": "2",
|
|
"display": ">= 5%",
|
|
"system": "dnpm-dip/mtb/ihc/protein-expression/tc-score"
|
|
}
|
|
}
|
|
],
|
|
"msiMmr": []
|
|
}
|
|
}
|
|
],
|
|
"ngsReports": [
|
|
{
|
|
"id": "ddf52e0e-25e5-448e-b70b-ed5c465f326a",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"specimen": {
|
|
"id": "ca83408d-7ad5-4998-ab2b-a8f705cc929d",
|
|
"type": "TumorSpecimen"
|
|
},
|
|
"issuedOn": "2025-06-18",
|
|
"type": {
|
|
"code": "genome-short-read",
|
|
"display": "Genome short-read",
|
|
"system": "dnpm-dip/ngs/type"
|
|
},
|
|
"metadata": [
|
|
{
|
|
"kitType": "Kit Type",
|
|
"kitManufacturer": "Manufacturer",
|
|
"sequencer": "Sequencer",
|
|
"referenceGenome": "HG38",
|
|
"pipeline": "https://github.com/pipeline-project"
|
|
}
|
|
],
|
|
"results": {
|
|
"tumorCellContent": {
|
|
"id": "569537ab-93ee-436b-9ed3-e9c04e8e3641",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"specimen": {
|
|
"id": "ca83408d-7ad5-4998-ab2b-a8f705cc929d",
|
|
"type": "TumorSpecimen"
|
|
},
|
|
"method": {
|
|
"code": "bioinformatic",
|
|
"display": "Bioinformatisch",
|
|
"system": "dnpm-dip/mtb/tumor-cell-content/method"
|
|
},
|
|
"value": 0.4518313013298274
|
|
},
|
|
"tmb": {
|
|
"id": "4e1bb8d3-7451-4b4f-9f5d-bad57f2b7fb2",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"specimen": {
|
|
"id": "ca83408d-7ad5-4998-ab2b-a8f705cc929d",
|
|
"type": "TumorSpecimen"
|
|
},
|
|
"value": {
|
|
"value": 10123,
|
|
"unit": "Mutations per megabase"
|
|
},
|
|
"interpretation": {
|
|
"code": "intermediate",
|
|
"display": "Mittel",
|
|
"system": "dnpm-dip/mtb/ngs/tmb/interpretation"
|
|
}
|
|
},
|
|
"brcaness": {
|
|
"id": "3bf399a3-1e95-40d2-b95f-e73b2eb4e3f9",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"specimen": {
|
|
"id": "ca83408d-7ad5-4998-ab2b-a8f705cc929d",
|
|
"type": "TumorSpecimen"
|
|
},
|
|
"value": 0.5,
|
|
"confidenceRange": {
|
|
"min": 0.4,
|
|
"max": 0.6
|
|
}
|
|
},
|
|
"hrdScore": {
|
|
"id": "6ec3bf1d-80fc-45fc-b4f7-7ed2944eef4d",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"specimen": {
|
|
"id": "ca83408d-7ad5-4998-ab2b-a8f705cc929d",
|
|
"type": "TumorSpecimen"
|
|
},
|
|
"value": 0.9153979330023811,
|
|
"components": {
|
|
"lst": 0.8555222570805803,
|
|
"loh": 0.9455497980335569,
|
|
"tai": 0.127101224817745
|
|
},
|
|
"interpretation": {
|
|
"code": "low",
|
|
"display": "Niedrig",
|
|
"system": "dnpm-dip/mtb/ngs/hrd-score/interpretation"
|
|
}
|
|
},
|
|
"simpleVariants": [
|
|
{
|
|
"id": "3d3a95f5-8944-4808-bfa1-1e9fe7e3b66c",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"externalIds": [
|
|
{
|
|
"value": "718266f3-83fe-45b0-b4fe-38e91aff4729",
|
|
"system": "https://www.ncbi.nlm.nih.gov/snp"
|
|
},
|
|
{
|
|
"value": "71527c1b-a8cd-4294-933f-a0c9eb47cea2",
|
|
"system": "https://cancer.sanger.ac.uk/cosmic"
|
|
}
|
|
],
|
|
"chromosome": "chr11",
|
|
"gene": {
|
|
"code": "HGNC:1097",
|
|
"display": "BRAF",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"localization": [
|
|
{
|
|
"code": "coding-region",
|
|
"display": "Coding region",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"transcriptId": {
|
|
"value": "6cd28c69-9820-41fe-b7be-174fbc662752",
|
|
"system": "https://www.ncbi.nlm.nih.gov/refseq"
|
|
},
|
|
"exonId": "5",
|
|
"position": {
|
|
"start": 321
|
|
},
|
|
"altAllele": "G",
|
|
"refAllele": "T",
|
|
"dnaChange": "c.321T>G",
|
|
"proteinChange": "p.Cys28_Lys29delinsTrp",
|
|
"readDepth": 18,
|
|
"allelicFrequency": 0.5313006892419402,
|
|
"interpretation": {
|
|
"code": "3",
|
|
"display": "Uncertain significance",
|
|
"system": "https://www.ncbi.nlm.nih.gov/clinvar"
|
|
}
|
|
},
|
|
{
|
|
"id": "860c6f07-f5aa-46b7-a5e4-74d4d382af52",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"externalIds": [
|
|
{
|
|
"value": "fe8c3df3-64c2-402b-8264-e763eee6b672",
|
|
"system": "https://www.ncbi.nlm.nih.gov/snp"
|
|
},
|
|
{
|
|
"value": "2f70640d-c16c-44dd-bff9-93530213756f",
|
|
"system": "https://cancer.sanger.ac.uk/cosmic"
|
|
}
|
|
],
|
|
"chromosome": "chrY",
|
|
"gene": {
|
|
"code": "HGNC:21298",
|
|
"display": "AACS",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"localization": [
|
|
{
|
|
"code": "coding-region",
|
|
"display": "Coding region",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"transcriptId": {
|
|
"value": "961cfcab-b459-4828-a491-6707f4e3a003",
|
|
"system": "https://www.ncbi.nlm.nih.gov/refseq"
|
|
},
|
|
"exonId": "5",
|
|
"position": {
|
|
"start": 377
|
|
},
|
|
"altAllele": "G",
|
|
"refAllele": "C",
|
|
"dnaChange": "c.377C>G",
|
|
"proteinChange": "p.Lys2_Gly3insGlnSerLys",
|
|
"readDepth": 5,
|
|
"allelicFrequency": 0.5912833215645019,
|
|
"interpretation": {
|
|
"code": "2",
|
|
"display": "Likely benign",
|
|
"system": "https://www.ncbi.nlm.nih.gov/clinvar"
|
|
}
|
|
},
|
|
{
|
|
"id": "5225f93f-a564-4fba-a276-5b12ee381396",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"externalIds": [
|
|
{
|
|
"value": "30aa4c5d-a3b8-4c71-816f-8151fff23458",
|
|
"system": "https://www.ncbi.nlm.nih.gov/snp"
|
|
},
|
|
{
|
|
"value": "53d27f21-bc2e-41e2-8cd8-761bac20cc64",
|
|
"system": "https://cancer.sanger.ac.uk/cosmic"
|
|
}
|
|
],
|
|
"chromosome": "chr11",
|
|
"gene": {
|
|
"code": "HGNC:25829",
|
|
"display": "ABRAXAS1",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"localization": [
|
|
{
|
|
"code": "coding-region",
|
|
"display": "Coding region",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"transcriptId": {
|
|
"value": "88c0863e-194e-4ffe-91b1-57519400c955",
|
|
"system": "https://www.ensembl.org"
|
|
},
|
|
"exonId": "6",
|
|
"position": {
|
|
"start": 578
|
|
},
|
|
"altAllele": "G",
|
|
"refAllele": "C",
|
|
"dnaChange": "c.578C>G",
|
|
"proteinChange": "p.Trp24=/Cys",
|
|
"readDepth": 8,
|
|
"allelicFrequency": 0.01578199654983059,
|
|
"interpretation": {
|
|
"code": "1",
|
|
"display": "Benign",
|
|
"system": "https://www.ncbi.nlm.nih.gov/clinvar"
|
|
}
|
|
},
|
|
{
|
|
"id": "4875a7b7-7e3e-4e26-8797-7e86bf5d1a2c",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"externalIds": [
|
|
{
|
|
"value": "7c831b5d-bac5-43d5-bc75-65122b834175",
|
|
"system": "https://www.ncbi.nlm.nih.gov/snp"
|
|
},
|
|
{
|
|
"value": "7155d5bd-e385-4e23-8310-e77aafd9a633",
|
|
"system": "https://cancer.sanger.ac.uk/cosmic"
|
|
}
|
|
],
|
|
"chromosome": "chr16",
|
|
"gene": {
|
|
"code": "HGNC:3942",
|
|
"display": "MTOR",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"localization": [
|
|
{
|
|
"code": "intronic",
|
|
"display": "Intronic",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"transcriptId": {
|
|
"value": "b0a50287-b80b-424c-a61b-188fdab74347",
|
|
"system": "https://www.ncbi.nlm.nih.gov/refseq"
|
|
},
|
|
"exonId": "6",
|
|
"position": {
|
|
"start": 599
|
|
},
|
|
"altAllele": "C",
|
|
"refAllele": "T",
|
|
"dnaChange": "c.599T>C",
|
|
"proteinChange": "p.Val7del",
|
|
"readDepth": 5,
|
|
"allelicFrequency": 0.9628563359040707,
|
|
"interpretation": {
|
|
"code": "1",
|
|
"display": "Benign",
|
|
"system": "https://www.ncbi.nlm.nih.gov/clinvar"
|
|
}
|
|
},
|
|
{
|
|
"id": "278b88c4-14b1-4955-a8b0-cddef965e22b",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"externalIds": [
|
|
{
|
|
"value": "9ef82075-36ac-46e8-9e3a-45b94a9015a8",
|
|
"system": "https://www.ncbi.nlm.nih.gov/snp"
|
|
},
|
|
{
|
|
"value": "4582f65b-3e0e-4c65-89bb-86224b029db1",
|
|
"system": "https://cancer.sanger.ac.uk/cosmic"
|
|
}
|
|
],
|
|
"chromosome": "chr19",
|
|
"gene": {
|
|
"code": "HGNC:6973",
|
|
"display": "MDM2",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"localization": [
|
|
{
|
|
"code": "intergenic",
|
|
"display": "Intergenic",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"transcriptId": {
|
|
"value": "7a9822c1-8435-4d80-908c-ff477e190fdc",
|
|
"system": "https://www.ncbi.nlm.nih.gov/refseq"
|
|
},
|
|
"exonId": "5",
|
|
"position": {
|
|
"start": 593
|
|
},
|
|
"altAllele": "G",
|
|
"refAllele": "C",
|
|
"dnaChange": "c.593C>G",
|
|
"proteinChange": "p.Lys2_Gly3insGlnSerLys",
|
|
"readDepth": 24,
|
|
"allelicFrequency": 0.9727789993260793,
|
|
"interpretation": {
|
|
"code": "4",
|
|
"display": "Likely pathogenic",
|
|
"system": "https://www.ncbi.nlm.nih.gov/clinvar"
|
|
}
|
|
},
|
|
{
|
|
"id": "9e7d1d8b-2505-47ff-a3d7-6e4960df90c9",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"externalIds": [
|
|
{
|
|
"value": "17f07e40-bbd4-46c5-ad59-769c9f8c90de",
|
|
"system": "https://www.ncbi.nlm.nih.gov/snp"
|
|
},
|
|
{
|
|
"value": "1300607c-300b-48d6-ab57-b9b7925ae111",
|
|
"system": "https://cancer.sanger.ac.uk/cosmic"
|
|
}
|
|
],
|
|
"chromosome": "chr10",
|
|
"gene": {
|
|
"code": "HGNC:886",
|
|
"display": "ATRX",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"localization": [
|
|
{
|
|
"code": "splicing-region",
|
|
"display": "splicing region",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"transcriptId": {
|
|
"value": "4acf68eb-82a4-4e63-bcf8-05fb55d70c20",
|
|
"system": "https://www.ensembl.org"
|
|
},
|
|
"exonId": "6",
|
|
"position": {
|
|
"start": 167
|
|
},
|
|
"altAllele": "G",
|
|
"refAllele": "A",
|
|
"dnaChange": "c.167A>G",
|
|
"proteinChange": "p.Val7del",
|
|
"readDepth": 14,
|
|
"allelicFrequency": 0.49604884475772426,
|
|
"interpretation": {
|
|
"code": "4",
|
|
"display": "Likely pathogenic",
|
|
"system": "https://www.ncbi.nlm.nih.gov/clinvar"
|
|
}
|
|
},
|
|
{
|
|
"id": "dc63c014-5092-4a76-9170-475e33975aae",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"externalIds": [
|
|
{
|
|
"value": "1517051d-7f42-44d3-9452-b4bda8b337db",
|
|
"system": "https://www.ncbi.nlm.nih.gov/snp"
|
|
},
|
|
{
|
|
"value": "8b1b91fb-4c17-41ca-a468-655e55fbb927",
|
|
"system": "https://cancer.sanger.ac.uk/cosmic"
|
|
}
|
|
],
|
|
"chromosome": "chr9",
|
|
"gene": {
|
|
"code": "HGNC:1777",
|
|
"display": "CDK6",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"localization": [
|
|
{
|
|
"code": "intronic",
|
|
"display": "Intronic",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"transcriptId": {
|
|
"value": "094cdd9e-a8cc-4816-b0b1-52b62d4eba3f",
|
|
"system": "https://www.ncbi.nlm.nih.gov/refseq"
|
|
},
|
|
"exonId": "9",
|
|
"position": {
|
|
"start": 439
|
|
},
|
|
"altAllele": "G",
|
|
"refAllele": "T",
|
|
"dnaChange": "c.439T>G",
|
|
"proteinChange": "p.Lys2_Gly3insGlnSerLys",
|
|
"readDepth": 21,
|
|
"allelicFrequency": 0.4919245137133894,
|
|
"interpretation": {
|
|
"code": "4",
|
|
"display": "Likely pathogenic",
|
|
"system": "https://www.ncbi.nlm.nih.gov/clinvar"
|
|
}
|
|
}
|
|
],
|
|
"copyNumberVariants": [
|
|
{
|
|
"id": "9f9e5329-906c-497a-851f-92f417fadcb5",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"chromosome": "chr18",
|
|
"localization": [
|
|
{
|
|
"code": "intergenic",
|
|
"display": "Intergenic",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"startRange": {
|
|
"start": 716,
|
|
"end": 758
|
|
},
|
|
"endRange": {
|
|
"start": 1661,
|
|
"end": 1711
|
|
},
|
|
"totalCopyNumber": 4,
|
|
"relativeCopyNumber": 0.7683648388779413,
|
|
"cnA": 0.4396044365008146,
|
|
"cnB": 0.7782076287281501,
|
|
"reportedAffectedGenes": [
|
|
{
|
|
"code": "HGNC:11998",
|
|
"display": "TP53",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:25829",
|
|
"display": "ABRAXAS1",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:3690",
|
|
"display": "FGFR3",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:886",
|
|
"display": "ATRX",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:3942",
|
|
"display": "MTOR",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:3236",
|
|
"display": "EGFR",
|
|
"system": "https://www.genenames.org/"
|
|
}
|
|
],
|
|
"reportedFocality": "partial q-arm",
|
|
"type": {
|
|
"code": "high-level-gain",
|
|
"display": "High-level-gain",
|
|
"system": "dnpm-dip/mtb/ngs-report/cnv/type"
|
|
},
|
|
"copyNumberNeutralLoH": [
|
|
{
|
|
"code": "HGNC:886",
|
|
"display": "ATRX",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:3689",
|
|
"display": "FGFR2",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:1777",
|
|
"display": "CDK6",
|
|
"system": "https://www.genenames.org/"
|
|
}
|
|
]
|
|
},
|
|
{
|
|
"id": "e390f0dd-38b8-49b2-931f-150f3302f03d",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"chromosome": "chr1",
|
|
"localization": [
|
|
{
|
|
"code": "coding-region",
|
|
"display": "Coding region",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"startRange": {
|
|
"start": 20954,
|
|
"end": 20996
|
|
},
|
|
"endRange": {
|
|
"start": 21605,
|
|
"end": 21655
|
|
},
|
|
"totalCopyNumber": 1,
|
|
"relativeCopyNumber": 0.9694091599811087,
|
|
"cnA": 0.5263643918370234,
|
|
"cnB": 0.018192693755011757,
|
|
"reportedAffectedGenes": [
|
|
{
|
|
"code": "HGNC:33",
|
|
"display": "ABCA3",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:11998",
|
|
"display": "TP53",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:25829",
|
|
"display": "ABRAXAS1",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:1100",
|
|
"display": "BRCA1",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:391",
|
|
"display": "AKT1",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:886",
|
|
"display": "ATRX",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:1777",
|
|
"display": "CDK6",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:3236",
|
|
"display": "EGFR",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:1753",
|
|
"display": "CDH13",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:3690",
|
|
"display": "FGFR3",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:21298",
|
|
"display": "AACS",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:3689",
|
|
"display": "FGFR2",
|
|
"system": "https://www.genenames.org/"
|
|
}
|
|
],
|
|
"reportedFocality": "partial q-arm",
|
|
"type": {
|
|
"code": "loss",
|
|
"display": "Loss",
|
|
"system": "dnpm-dip/mtb/ngs-report/cnv/type"
|
|
},
|
|
"copyNumberNeutralLoH": [
|
|
{
|
|
"code": "HGNC:5173",
|
|
"display": "HRAS",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:25829",
|
|
"display": "ABRAXAS1",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:1753",
|
|
"display": "CDH13",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:1097",
|
|
"display": "BRAF",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:391",
|
|
"display": "AKT1",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:76",
|
|
"display": "ABL1",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:1777",
|
|
"display": "CDK6",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:21298",
|
|
"display": "AACS",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:6407",
|
|
"display": "KRAS",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:34",
|
|
"display": "ABCA4",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:3942",
|
|
"display": "MTOR",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:21597",
|
|
"display": "ACAD10",
|
|
"system": "https://www.genenames.org/"
|
|
}
|
|
]
|
|
},
|
|
{
|
|
"id": "b6266cd0-a0e4-42ad-bea7-27339934c61a",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"chromosome": "chr21",
|
|
"localization": [
|
|
{
|
|
"code": "regulatory-region",
|
|
"display": "Regulatory region",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"startRange": {
|
|
"start": 18477,
|
|
"end": 18519
|
|
},
|
|
"endRange": {
|
|
"start": 18783,
|
|
"end": 18833
|
|
},
|
|
"totalCopyNumber": 2,
|
|
"relativeCopyNumber": 0.5869406919381979,
|
|
"cnA": 0.807129156348546,
|
|
"cnB": 0.5461146105196707,
|
|
"reportedAffectedGenes": [
|
|
{
|
|
"code": "HGNC:11998",
|
|
"display": "TP53",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:5173",
|
|
"display": "HRAS",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:3690",
|
|
"display": "FGFR3",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:886",
|
|
"display": "ATRX",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:21597",
|
|
"display": "ACAD10",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:6407",
|
|
"display": "KRAS",
|
|
"system": "https://www.genenames.org/"
|
|
}
|
|
],
|
|
"reportedFocality": "partial q-arm",
|
|
"type": {
|
|
"code": "low-level-gain",
|
|
"display": "Low-level-gain",
|
|
"system": "dnpm-dip/mtb/ngs-report/cnv/type"
|
|
},
|
|
"copyNumberNeutralLoH": [
|
|
{
|
|
"code": "HGNC:33",
|
|
"display": "ABCA3",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:11998",
|
|
"display": "TP53",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:5173",
|
|
"display": "HRAS",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:25829",
|
|
"display": "ABRAXAS1",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:1753",
|
|
"display": "CDH13",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:1100",
|
|
"display": "BRCA1",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:76",
|
|
"display": "ABL1",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:34",
|
|
"display": "ABCA4",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:3236",
|
|
"display": "EGFR",
|
|
"system": "https://www.genenames.org/"
|
|
}
|
|
]
|
|
},
|
|
{
|
|
"id": "d4352f6d-2bf2-47cc-8b40-2588bd7cfc2e",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"chromosome": "chr20",
|
|
"localization": [
|
|
{
|
|
"code": "regulatory-region",
|
|
"display": "Regulatory region",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"startRange": {
|
|
"start": 25177,
|
|
"end": 25219
|
|
},
|
|
"endRange": {
|
|
"start": 25798,
|
|
"end": 25848
|
|
},
|
|
"totalCopyNumber": 6,
|
|
"relativeCopyNumber": 0.4089412068181695,
|
|
"cnA": 0.9024490217750547,
|
|
"cnB": 0.8810785629496372,
|
|
"reportedAffectedGenes": [
|
|
{
|
|
"code": "HGNC:5173",
|
|
"display": "HRAS",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:25829",
|
|
"display": "ABRAXAS1",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:25662",
|
|
"display": "AAGAB",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:34",
|
|
"display": "ABCA4",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:3942",
|
|
"display": "MTOR",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:3236",
|
|
"display": "EGFR",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:21597",
|
|
"display": "ACAD10",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:18615",
|
|
"display": "BRAFP1",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:6407",
|
|
"display": "KRAS",
|
|
"system": "https://www.genenames.org/"
|
|
}
|
|
],
|
|
"reportedFocality": "partial q-arm",
|
|
"type": {
|
|
"code": "high-level-gain",
|
|
"display": "High-level-gain",
|
|
"system": "dnpm-dip/mtb/ngs-report/cnv/type"
|
|
},
|
|
"copyNumberNeutralLoH": [
|
|
{
|
|
"code": "HGNC:11998",
|
|
"display": "TP53",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:5173",
|
|
"display": "HRAS",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:1753",
|
|
"display": "CDH13",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:1777",
|
|
"display": "CDK6",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:21298",
|
|
"display": "AACS",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:25662",
|
|
"display": "AAGAB",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:1100",
|
|
"display": "BRCA1",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:18615",
|
|
"display": "BRAFP1",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:6407",
|
|
"display": "KRAS",
|
|
"system": "https://www.genenames.org/"
|
|
}
|
|
]
|
|
},
|
|
{
|
|
"id": "dc9a372f-2318-43a7-8ce4-cb0d79f15ba1",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"chromosome": "chrX",
|
|
"localization": [
|
|
{
|
|
"code": "intergenic",
|
|
"display": "Intergenic",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"startRange": {
|
|
"start": 45191,
|
|
"end": 45233
|
|
},
|
|
"endRange": {
|
|
"start": 45420,
|
|
"end": 45470
|
|
},
|
|
"totalCopyNumber": 1,
|
|
"relativeCopyNumber": 0.0068665843381129354,
|
|
"cnA": 0.9045882598400938,
|
|
"cnB": 0.6829665691976955,
|
|
"reportedAffectedGenes": [
|
|
{
|
|
"code": "HGNC:11998",
|
|
"display": "TP53",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:5173",
|
|
"display": "HRAS",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:6973",
|
|
"display": "MDM2",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:3690",
|
|
"display": "FGFR3",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:25662",
|
|
"display": "AAGAB",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:76",
|
|
"display": "ABL1",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:9967",
|
|
"display": "RET",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:6407",
|
|
"display": "KRAS",
|
|
"system": "https://www.genenames.org/"
|
|
}
|
|
],
|
|
"reportedFocality": "partial q-arm",
|
|
"type": {
|
|
"code": "loss",
|
|
"display": "Loss",
|
|
"system": "dnpm-dip/mtb/ngs-report/cnv/type"
|
|
},
|
|
"copyNumberNeutralLoH": [
|
|
{
|
|
"code": "HGNC:5173",
|
|
"display": "HRAS",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:6973",
|
|
"display": "MDM2",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:3690",
|
|
"display": "FGFR3",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:1100",
|
|
"display": "BRCA1",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:391",
|
|
"display": "AKT1",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:886",
|
|
"display": "ATRX",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:34",
|
|
"display": "ABCA4",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:3942",
|
|
"display": "MTOR",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:3236",
|
|
"display": "EGFR",
|
|
"system": "https://www.genenames.org/"
|
|
}
|
|
]
|
|
},
|
|
{
|
|
"id": "a419c301-0da5-49f8-a691-93760fe18494",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"chromosome": "chr17",
|
|
"localization": [
|
|
{
|
|
"code": "intronic",
|
|
"display": "Intronic",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"startRange": {
|
|
"start": 42151,
|
|
"end": 42193
|
|
},
|
|
"endRange": {
|
|
"start": 43039,
|
|
"end": 43089
|
|
},
|
|
"totalCopyNumber": 1,
|
|
"relativeCopyNumber": 0.9392018237630932,
|
|
"cnA": 0.49943029992502197,
|
|
"cnB": 0.3061034066662738,
|
|
"reportedAffectedGenes": [
|
|
{
|
|
"code": "HGNC:5173",
|
|
"display": "HRAS",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:25829",
|
|
"display": "ABRAXAS1",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:6973",
|
|
"display": "MDM2",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:1100",
|
|
"display": "BRCA1",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:1777",
|
|
"display": "CDK6",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:34",
|
|
"display": "ABCA4",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:9967",
|
|
"display": "RET",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:21298",
|
|
"display": "AACS",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:3689",
|
|
"display": "FGFR2",
|
|
"system": "https://www.genenames.org/"
|
|
}
|
|
],
|
|
"reportedFocality": "partial q-arm",
|
|
"type": {
|
|
"code": "loss",
|
|
"display": "Loss",
|
|
"system": "dnpm-dip/mtb/ngs-report/cnv/type"
|
|
},
|
|
"copyNumberNeutralLoH": [
|
|
{
|
|
"code": "HGNC:33",
|
|
"display": "ABCA3",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:25662",
|
|
"display": "AAGAB",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:1777",
|
|
"display": "CDK6",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:9967",
|
|
"display": "RET",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:21298",
|
|
"display": "AACS",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:18615",
|
|
"display": "BRAFP1",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:6407",
|
|
"display": "KRAS",
|
|
"system": "https://www.genenames.org/"
|
|
}
|
|
]
|
|
}
|
|
],
|
|
"dnaFusions": [
|
|
{
|
|
"id": "0cbe5df0-8c5e-4352-ae80-58b18bc99e03",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"localization": [
|
|
{
|
|
"code": "regulatory-region",
|
|
"display": "Regulatory region",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"fusionPartner5prime": {
|
|
"chromosome": "chr12",
|
|
"gene": {
|
|
"code": "HGNC:886",
|
|
"display": "ATRX",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 694
|
|
},
|
|
"fusionPartner3prime": {
|
|
"chromosome": "chr4",
|
|
"gene": {
|
|
"code": "HGNC:1097",
|
|
"display": "BRAF",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 125
|
|
},
|
|
"reportedNumReads": 6
|
|
},
|
|
{
|
|
"id": "a17f336a-0ea4-4bb7-8e46-8fd3ea8c400e",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"localization": [
|
|
{
|
|
"code": "intergenic",
|
|
"display": "Intergenic",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"fusionPartner5prime": {
|
|
"chromosome": "chr14",
|
|
"gene": {
|
|
"code": "HGNC:1753",
|
|
"display": "CDH13",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 519
|
|
},
|
|
"fusionPartner3prime": {
|
|
"chromosome": "chr4",
|
|
"gene": {
|
|
"code": "HGNC:11998",
|
|
"display": "TP53",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 431
|
|
},
|
|
"reportedNumReads": 6
|
|
},
|
|
{
|
|
"id": "e0cb222c-e12d-492d-8d09-bfcebb2dae96",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"localization": [
|
|
{
|
|
"code": "splicing-region",
|
|
"display": "splicing region",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"fusionPartner5prime": {
|
|
"chromosome": "chrX",
|
|
"gene": {
|
|
"code": "HGNC:3690",
|
|
"display": "FGFR3",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 573
|
|
},
|
|
"fusionPartner3prime": {
|
|
"chromosome": "chr16",
|
|
"gene": {
|
|
"code": "HGNC:3942",
|
|
"display": "MTOR",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 590
|
|
},
|
|
"reportedNumReads": 7
|
|
},
|
|
{
|
|
"id": "7574a407-064d-43f7-b01a-3ee314de17ab",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"localization": [
|
|
{
|
|
"code": "splicing-region",
|
|
"display": "splicing region",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"fusionPartner5prime": {
|
|
"chromosome": "chr21",
|
|
"gene": {
|
|
"code": "HGNC:3690",
|
|
"display": "FGFR3",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 370
|
|
},
|
|
"fusionPartner3prime": {
|
|
"chromosome": "chr8",
|
|
"gene": {
|
|
"code": "HGNC:6407",
|
|
"display": "KRAS",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 376
|
|
},
|
|
"reportedNumReads": 9
|
|
},
|
|
{
|
|
"id": "cf273d27-7296-430a-b333-8533401e33d0",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"localization": [
|
|
{
|
|
"code": "splicing-region",
|
|
"display": "splicing region",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"fusionPartner5prime": {
|
|
"chromosome": "chr22",
|
|
"gene": {
|
|
"code": "HGNC:1097",
|
|
"display": "BRAF",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 374
|
|
},
|
|
"fusionPartner3prime": {
|
|
"chromosome": "chr16",
|
|
"gene": {
|
|
"code": "HGNC:11998",
|
|
"display": "TP53",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 866
|
|
},
|
|
"reportedNumReads": 3
|
|
},
|
|
{
|
|
"id": "ac3ea44e-b378-4ddc-bf69-d4de67714377",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"localization": [
|
|
{
|
|
"code": "intronic",
|
|
"display": "Intronic",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"fusionPartner5prime": {
|
|
"chromosome": "chr20",
|
|
"gene": {
|
|
"code": "HGNC:9967",
|
|
"display": "RET",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 388
|
|
},
|
|
"fusionPartner3prime": {
|
|
"chromosome": "chr22",
|
|
"gene": {
|
|
"code": "HGNC:21298",
|
|
"display": "AACS",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 447
|
|
},
|
|
"reportedNumReads": 3
|
|
},
|
|
{
|
|
"id": "0d9ff226-62b1-4402-b4c2-ed763a008e85",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"localization": [
|
|
{
|
|
"code": "intronic",
|
|
"display": "Intronic",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"fusionPartner5prime": {
|
|
"chromosome": "chr8",
|
|
"gene": {
|
|
"code": "HGNC:886",
|
|
"display": "ATRX",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 741
|
|
},
|
|
"fusionPartner3prime": {
|
|
"chromosome": "chr7",
|
|
"gene": {
|
|
"code": "HGNC:34",
|
|
"display": "ABCA4",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 247
|
|
},
|
|
"reportedNumReads": 3
|
|
}
|
|
],
|
|
"rnaFusions": [
|
|
{
|
|
"id": "c449c682-a9b3-4670-8112-71e1d2887fdc",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"externalIds": [
|
|
{
|
|
"value": "c7d5b3ff-bf0c-4f21-9a99-a47083e1d10f",
|
|
"system": "https://cancer.sanger.ac.uk/cosmic"
|
|
}
|
|
],
|
|
"localization": [
|
|
{
|
|
"code": "coding-region",
|
|
"display": "Coding region",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"fusionPartner5prime": {
|
|
"transcriptId": {
|
|
"value": "d47164fb-21af-4aa5-a874-a0fee46278f1",
|
|
"system": "https://www.ensembl.org"
|
|
},
|
|
"exonId": "2",
|
|
"gene": {
|
|
"code": "HGNC:34",
|
|
"display": "ABCA4",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 682,
|
|
"strand": "-"
|
|
},
|
|
"fusionPartner3prime": {
|
|
"transcriptId": {
|
|
"value": "383a625e-f9b0-4a50-aea6-0b743d9c7fe9",
|
|
"system": "https://www.ensembl.org"
|
|
},
|
|
"exonId": "7",
|
|
"gene": {
|
|
"code": "HGNC:18615",
|
|
"display": "BRAFP1",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 663,
|
|
"strand": "+"
|
|
},
|
|
"effect": "Effect",
|
|
"reportedNumReads": 6
|
|
},
|
|
{
|
|
"id": "a75bbb05-7c53-4f09-84e4-e64f48c3e920",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"externalIds": [
|
|
{
|
|
"value": "e19d32c1-af49-42ad-acea-0589da14661e",
|
|
"system": "https://cancer.sanger.ac.uk/cosmic"
|
|
}
|
|
],
|
|
"localization": [
|
|
{
|
|
"code": "regulatory-region",
|
|
"display": "Regulatory region",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"fusionPartner5prime": {
|
|
"transcriptId": {
|
|
"value": "7832b263-9bea-41da-8a50-41f00e4bd358",
|
|
"system": "https://www.ncbi.nlm.nih.gov/refseq"
|
|
},
|
|
"exonId": "5",
|
|
"gene": {
|
|
"code": "HGNC:21298",
|
|
"display": "AACS",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 121,
|
|
"strand": "+"
|
|
},
|
|
"fusionPartner3prime": {
|
|
"transcriptId": {
|
|
"value": "2079bb40-53ca-487d-b6ce-8e602ee76002",
|
|
"system": "https://www.ncbi.nlm.nih.gov/refseq"
|
|
},
|
|
"exonId": "4",
|
|
"gene": {
|
|
"code": "HGNC:21298",
|
|
"display": "AACS",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 600,
|
|
"strand": "+"
|
|
},
|
|
"effect": "Effect",
|
|
"reportedNumReads": 9
|
|
},
|
|
{
|
|
"id": "0a696210-ac72-4886-89c7-2cc60d67a4a1",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"externalIds": [
|
|
{
|
|
"value": "da5d9de9-b4d0-4b7f-8636-c4dbc0054171",
|
|
"system": "https://cancer.sanger.ac.uk/cosmic"
|
|
}
|
|
],
|
|
"localization": [
|
|
{
|
|
"code": "intergenic",
|
|
"display": "Intergenic",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"fusionPartner5prime": {
|
|
"transcriptId": {
|
|
"value": "ef798439-741e-4931-bb83-40beb39c2ae1",
|
|
"system": "https://www.ncbi.nlm.nih.gov/refseq"
|
|
},
|
|
"exonId": "2",
|
|
"gene": {
|
|
"code": "HGNC:21298",
|
|
"display": "AACS",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 817,
|
|
"strand": "+"
|
|
},
|
|
"fusionPartner3prime": {
|
|
"transcriptId": {
|
|
"value": "89bddc60-5dfc-4354-9fae-bba0c139b671",
|
|
"system": "https://www.ncbi.nlm.nih.gov/refseq"
|
|
},
|
|
"exonId": "6",
|
|
"gene": {
|
|
"code": "HGNC:1100",
|
|
"display": "BRCA1",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 207,
|
|
"strand": "-"
|
|
},
|
|
"effect": "Effect",
|
|
"reportedNumReads": 3
|
|
},
|
|
{
|
|
"id": "0b16bcfa-9159-4994-bdb7-5a9b525c19d5",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"externalIds": [
|
|
{
|
|
"value": "6e13a46c-cd95-4fa3-877c-bf10339f867a",
|
|
"system": "https://cancer.sanger.ac.uk/cosmic"
|
|
}
|
|
],
|
|
"localization": [
|
|
{
|
|
"code": "intergenic",
|
|
"display": "Intergenic",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"fusionPartner5prime": {
|
|
"transcriptId": {
|
|
"value": "92ce262d-41a7-4d64-8b31-8b234571d552",
|
|
"system": "https://www.ensembl.org"
|
|
},
|
|
"exonId": "11",
|
|
"gene": {
|
|
"code": "HGNC:3689",
|
|
"display": "FGFR2",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 236,
|
|
"strand": "+"
|
|
},
|
|
"fusionPartner3prime": {
|
|
"transcriptId": {
|
|
"value": "2bbb5f6c-a319-4ad7-a790-19893d785fe9",
|
|
"system": "https://www.ncbi.nlm.nih.gov/refseq"
|
|
},
|
|
"exonId": "9",
|
|
"gene": {
|
|
"code": "HGNC:3690",
|
|
"display": "FGFR3",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 138,
|
|
"strand": "+"
|
|
},
|
|
"effect": "Effect",
|
|
"reportedNumReads": 6
|
|
},
|
|
{
|
|
"id": "053c2071-439e-4c43-b35f-4627d77efdd2",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"externalIds": [
|
|
{
|
|
"value": "18795cc7-bed3-4aa5-ac85-ba5495e86068",
|
|
"system": "https://cancer.sanger.ac.uk/cosmic"
|
|
}
|
|
],
|
|
"localization": [
|
|
{
|
|
"code": "regulatory-region",
|
|
"display": "Regulatory region",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"fusionPartner5prime": {
|
|
"transcriptId": {
|
|
"value": "f7f161ee-6445-400c-b2ea-08acd2c4e93e",
|
|
"system": "https://www.ensembl.org"
|
|
},
|
|
"exonId": "5",
|
|
"gene": {
|
|
"code": "HGNC:3236",
|
|
"display": "EGFR",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 419,
|
|
"strand": "-"
|
|
},
|
|
"fusionPartner3prime": {
|
|
"transcriptId": {
|
|
"value": "3d7ba868-7f36-476e-b25c-2ad65fa19b6b",
|
|
"system": "https://www.ncbi.nlm.nih.gov/refseq"
|
|
},
|
|
"exonId": "11",
|
|
"gene": {
|
|
"code": "HGNC:1097",
|
|
"display": "BRAF",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 671,
|
|
"strand": "-"
|
|
},
|
|
"effect": "Effect",
|
|
"reportedNumReads": 7
|
|
},
|
|
{
|
|
"id": "42d57f8c-a52f-4cac-9d3a-a3c0ee1fea7f",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"externalIds": [
|
|
{
|
|
"value": "8a70b883-0ade-48f0-a983-04a06d6af3a6",
|
|
"system": "https://cancer.sanger.ac.uk/cosmic"
|
|
}
|
|
],
|
|
"localization": [
|
|
{
|
|
"code": "splicing-region",
|
|
"display": "splicing region",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"fusionPartner5prime": {
|
|
"transcriptId": {
|
|
"value": "2ad8b709-70c1-4e34-8c86-53f9e820ce96",
|
|
"system": "https://www.ncbi.nlm.nih.gov/refseq"
|
|
},
|
|
"exonId": "8",
|
|
"gene": {
|
|
"code": "HGNC:6407",
|
|
"display": "KRAS",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 726,
|
|
"strand": "-"
|
|
},
|
|
"fusionPartner3prime": {
|
|
"transcriptId": {
|
|
"value": "e008da50-579d-4734-afa5-a6140ab7f313",
|
|
"system": "https://www.ncbi.nlm.nih.gov/refseq"
|
|
},
|
|
"exonId": "8",
|
|
"gene": {
|
|
"code": "HGNC:11998",
|
|
"display": "TP53",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 538,
|
|
"strand": "+"
|
|
},
|
|
"effect": "Effect",
|
|
"reportedNumReads": 5
|
|
},
|
|
{
|
|
"id": "730ed9b1-2d9c-4a55-82d3-ed20eaba72c3",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"externalIds": [
|
|
{
|
|
"value": "e3e6b349-ad6c-447d-a0a2-cd7ed529de6d",
|
|
"system": "https://cancer.sanger.ac.uk/cosmic"
|
|
}
|
|
],
|
|
"localization": [
|
|
{
|
|
"code": "intronic",
|
|
"display": "Intronic",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"fusionPartner5prime": {
|
|
"transcriptId": {
|
|
"value": "a5b4497d-3e5f-4ea1-ad4e-cd6c208e884f",
|
|
"system": "https://www.ncbi.nlm.nih.gov/refseq"
|
|
},
|
|
"exonId": "9",
|
|
"gene": {
|
|
"code": "HGNC:76",
|
|
"display": "ABL1",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 893,
|
|
"strand": "-"
|
|
},
|
|
"fusionPartner3prime": {
|
|
"transcriptId": {
|
|
"value": "46a68c8d-7df1-4906-95a8-17340beca77f",
|
|
"system": "https://www.ncbi.nlm.nih.gov/refseq"
|
|
},
|
|
"exonId": "6",
|
|
"gene": {
|
|
"code": "HGNC:6973",
|
|
"display": "MDM2",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 115,
|
|
"strand": "+"
|
|
},
|
|
"effect": "Effect",
|
|
"reportedNumReads": 5
|
|
}
|
|
],
|
|
"rnaSeqs": []
|
|
}
|
|
}
|
|
],
|
|
"carePlans": [
|
|
{
|
|
"id": "70d02812-7062-4355-869d-ceb466c2e3e7",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"reason": {
|
|
"id": "fd3a3a67-bfb6-4101-8516-d6f34e779de4",
|
|
"display": "Bösartige Neubildung: Isthmus uteri",
|
|
"type": "MTBDiagnosis"
|
|
},
|
|
"issuedOn": "2025-06-18",
|
|
"geneticCounselingRecommendation": {
|
|
"id": "64046b3a-80ed-483a-8c81-587824aeb8e1",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"issuedOn": "2025-06-18",
|
|
"reason": {
|
|
"code": "family-anamnesis",
|
|
"display": "Familienanamnese",
|
|
"system": "dnpm-dip/mtb/recommendation/genetic-counseling/reason"
|
|
}
|
|
},
|
|
"medicationRecommendations": [
|
|
{
|
|
"id": "6a91f8db-8cde-4be1-84c6-f0c4fd4a2105",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"reason": {
|
|
"id": "fd3a3a67-bfb6-4101-8516-d6f34e779de4",
|
|
"display": "Bösartige Neubildung: Isthmus uteri",
|
|
"type": "MTBDiagnosis"
|
|
},
|
|
"issuedOn": "2025-06-18",
|
|
"priority": {
|
|
"code": "1",
|
|
"display": "1",
|
|
"system": "dnpm-dip/recommendation/priority"
|
|
},
|
|
"levelOfEvidence": {
|
|
"grading": {
|
|
"code": "undefined",
|
|
"display": "Nicht definiert",
|
|
"system": "dnpm-dip/mtb/level-of-evidence/grading"
|
|
},
|
|
"addendums": [
|
|
{
|
|
"code": "iv",
|
|
"display": "iv",
|
|
"system": "dnpm-dip/mtb/level-of-evidence/addendum"
|
|
}
|
|
],
|
|
"publications": [
|
|
{
|
|
"id": "1570997794",
|
|
"system": "https://pubmed.ncbi.nlm.nih.gov",
|
|
"type": "Publication"
|
|
}
|
|
]
|
|
},
|
|
"category": {
|
|
"code": "SZ",
|
|
"display": "Stammzelltransplantation (inklusive Knochenmarktransplantation)",
|
|
"system": "dnpm-dip/mtb/recommendation/systemic-therapy/category"
|
|
},
|
|
"medication": [
|
|
{
|
|
"code": "L01XX79",
|
|
"display": "Eflornithin",
|
|
"system": "http://fhir.de/CodeSystem/bfarm/atc",
|
|
"version": "2025"
|
|
}
|
|
],
|
|
"useType": {
|
|
"code": "compassionate",
|
|
"display": "Compassionate Use",
|
|
"system": "dnpm-dip/mtb/recommendation/systemic-therapy/use-type"
|
|
},
|
|
"supportingVariants": [
|
|
{
|
|
"variant": {
|
|
"id": "0cbe5df0-8c5e-4352-ae80-58b18bc99e03",
|
|
"type": "Variant"
|
|
},
|
|
"gene": {
|
|
"code": "HGNC:886",
|
|
"display": "ATRX",
|
|
"system": "https://www.genenames.org/"
|
|
}
|
|
}
|
|
]
|
|
}
|
|
],
|
|
"procedureRecommendations": [
|
|
{
|
|
"id": "64a53b73-9152-4a8c-8685-f10be92be4c0",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"reason": {
|
|
"id": "fd3a3a67-bfb6-4101-8516-d6f34e779de4",
|
|
"display": "Bösartige Neubildung: Isthmus uteri",
|
|
"type": "MTBDiagnosis"
|
|
},
|
|
"issuedOn": "2025-06-18",
|
|
"priority": {
|
|
"code": "4",
|
|
"display": "4",
|
|
"system": "dnpm-dip/recommendation/priority"
|
|
},
|
|
"levelOfEvidence": {
|
|
"grading": {
|
|
"code": "m1A",
|
|
"display": "m1A",
|
|
"system": "dnpm-dip/mtb/level-of-evidence/grading"
|
|
},
|
|
"addendums": [
|
|
{
|
|
"code": "R",
|
|
"display": "R",
|
|
"system": "dnpm-dip/mtb/level-of-evidence/addendum"
|
|
}
|
|
],
|
|
"publications": [
|
|
{
|
|
"id": "224732002",
|
|
"system": "https://pubmed.ncbi.nlm.nih.gov",
|
|
"type": "Publication"
|
|
}
|
|
]
|
|
},
|
|
"code": {
|
|
"code": "SO",
|
|
"display": "Sonstiges",
|
|
"system": "dnpm-dip/mtb/recommendation/procedure/category"
|
|
},
|
|
"supportingVariants": [
|
|
{
|
|
"variant": {
|
|
"id": "a17f336a-0ea4-4bb7-8e46-8fd3ea8c400e",
|
|
"type": "Variant"
|
|
},
|
|
"gene": {
|
|
"code": "HGNC:1753",
|
|
"display": "CDH13",
|
|
"system": "https://www.genenames.org/"
|
|
}
|
|
}
|
|
]
|
|
}
|
|
],
|
|
"studyEnrollmentRecommendations": [
|
|
{
|
|
"id": "9e830774-b888-4cb2-8883-29bb6513c4a9",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"reason": {
|
|
"id": "fd3a3a67-bfb6-4101-8516-d6f34e779de4",
|
|
"display": "Bösartige Neubildung: Isthmus uteri",
|
|
"type": "MTBDiagnosis"
|
|
},
|
|
"issuedOn": "2025-06-18",
|
|
"levelOfEvidence": {
|
|
"grading": {
|
|
"code": "undefined",
|
|
"display": "Nicht definiert",
|
|
"system": "dnpm-dip/mtb/level-of-evidence/grading"
|
|
},
|
|
"addendums": [
|
|
{
|
|
"code": "iv",
|
|
"display": "iv",
|
|
"system": "dnpm-dip/mtb/level-of-evidence/addendum"
|
|
}
|
|
],
|
|
"publications": [
|
|
{
|
|
"id": "1570997794",
|
|
"system": "https://pubmed.ncbi.nlm.nih.gov",
|
|
"type": "Publication"
|
|
}
|
|
]
|
|
},
|
|
"priority": {
|
|
"code": "3",
|
|
"display": "3",
|
|
"system": "dnpm-dip/recommendation/priority"
|
|
},
|
|
"study": [
|
|
{
|
|
"id": "DRKS00003728",
|
|
"system": "DRKS",
|
|
"type": "Study"
|
|
}
|
|
],
|
|
"supportingVariants": [
|
|
{
|
|
"variant": {
|
|
"id": "0cbe5df0-8c5e-4352-ae80-58b18bc99e03",
|
|
"type": "Variant"
|
|
},
|
|
"gene": {
|
|
"code": "HGNC:886",
|
|
"display": "ATRX",
|
|
"system": "https://www.genenames.org/"
|
|
}
|
|
}
|
|
]
|
|
}
|
|
],
|
|
"histologyReevaluationRequests": [
|
|
{
|
|
"id": "4409db9f-6560-41e8-a7fd-4a5a398d917e",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"specimen": {
|
|
"id": "ca83408d-7ad5-4998-ab2b-a8f705cc929d",
|
|
"type": "TumorSpecimen"
|
|
},
|
|
"issuedOn": "2025-06-18"
|
|
}
|
|
],
|
|
"rebiopsyRequests": [
|
|
{
|
|
"id": "692b1fec-1ed2-4c70-a6d1-d1d1fdec160b",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"tumorEntity": {
|
|
"id": "fd3a3a67-bfb6-4101-8516-d6f34e779de4",
|
|
"type": "MTBDiagnosis"
|
|
},
|
|
"issuedOn": "2025-06-18"
|
|
}
|
|
],
|
|
"notes": [
|
|
"Protocol of the MTB conference..."
|
|
]
|
|
}
|
|
],
|
|
"followUps": [
|
|
{
|
|
"date": "2009-10-19",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"lastContactDate": "2009-10-19"
|
|
}
|
|
],
|
|
"claims": [
|
|
{
|
|
"id": "5f9a50b7-582f-404f-b50c-92077e19daba",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"recommendation": {
|
|
"id": "6a91f8db-8cde-4be1-84c6-f0c4fd4a2105",
|
|
"type": "MTBMedicationRecommendation"
|
|
},
|
|
"issuedOn": "2025-06-18",
|
|
"stage": {
|
|
"code": "initial-claim",
|
|
"display": "Erstantrag",
|
|
"system": "dnpm-dip/mtb/claim/stage"
|
|
}
|
|
}
|
|
],
|
|
"claimResponses": [
|
|
{
|
|
"id": "be291eca-2333-41e1-bcd2-e845212049ba",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"claim": {
|
|
"id": "5f9a50b7-582f-404f-b50c-92077e19daba",
|
|
"type": "Claim"
|
|
},
|
|
"issuedOn": "2025-06-18",
|
|
"status": {
|
|
"code": "accepted",
|
|
"display": "Angenommen",
|
|
"system": "dnpm-dip/mtb/claim-response/status"
|
|
}
|
|
}
|
|
],
|
|
"systemicTherapies": [
|
|
{
|
|
"history": [
|
|
{
|
|
"id": "095604dd-7271-4d43-99ab-39fafdf6a099",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"reason": {
|
|
"id": "fd3a3a67-bfb6-4101-8516-d6f34e779de4",
|
|
"display": "Bösartige Neubildung: Isthmus uteri",
|
|
"type": "MTBDiagnosis"
|
|
},
|
|
"intent": {
|
|
"code": "K",
|
|
"display": "Kurativ",
|
|
"system": "dnpm-dip/therapy/intent"
|
|
},
|
|
"category": {
|
|
"code": "N",
|
|
"display": "Neoadjuvant",
|
|
"system": "dnpm-dip/therapy/category"
|
|
},
|
|
"basedOn": {
|
|
"id": "6a91f8db-8cde-4be1-84c6-f0c4fd4a2105",
|
|
"type": "MTBMedicationRecommendation"
|
|
},
|
|
"recordedOn": "2025-06-18",
|
|
"status": {
|
|
"code": "completed",
|
|
"display": "Abgeschlossen",
|
|
"system": "dnpm-dip/therapy/status"
|
|
},
|
|
"recommendationFulfillmentStatus": {
|
|
"code": "partial",
|
|
"display": "Partiell",
|
|
"system": "dnpm-dip/therapy/recommendation-fulfillment-status"
|
|
},
|
|
"dosage": {
|
|
"code": "over-50%",
|
|
"display": ">= 50 %",
|
|
"system": "dnpm-dip/therapy/dosage-density"
|
|
},
|
|
"period": {
|
|
"start": "2009-07-20",
|
|
"end": "2010-01-04"
|
|
},
|
|
"medication": [
|
|
{
|
|
"code": "L01XX79",
|
|
"display": "Eflornithin",
|
|
"system": "http://fhir.de/CodeSystem/bfarm/atc",
|
|
"version": "2025"
|
|
}
|
|
],
|
|
"notes": [
|
|
"Notes on the therapy..."
|
|
]
|
|
}
|
|
]
|
|
}
|
|
],
|
|
"responses": [
|
|
{
|
|
"id": "d2d28592-a1bf-414b-a137-c55a2f22aa64",
|
|
"patient": {
|
|
"id": "47d1425b-a7ab-43d3-af77-623b3eaf18e0",
|
|
"type": "Patient"
|
|
},
|
|
"therapy": {
|
|
"id": "095604dd-7271-4d43-99ab-39fafdf6a099",
|
|
"type": "MTBSystemicTherapy"
|
|
},
|
|
"effectiveDate": "2009-10-19",
|
|
"method": {
|
|
"code": "RECIST",
|
|
"display": "Nach RECIST-Kriterien",
|
|
"system": "dnpm-dip/mtb/response/method"
|
|
},
|
|
"value": {
|
|
"code": "SD",
|
|
"display": "Stable Disease",
|
|
"system": "RECIST"
|
|
}
|
|
}
|
|
]
|
|
}
|