mirror of
https://github.com/dnpm-dip/mv64e-mtb-dto-dotnet.git
synced 2025-07-01 18:32:54 +00:00
2629 lines
79 KiB
JSON
2629 lines
79 KiB
JSON
{
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"gender": {
|
|
"code": "male",
|
|
"display": "Männlich",
|
|
"system": "Gender"
|
|
},
|
|
"birthDate": "1961-09-01",
|
|
"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": 63,
|
|
"unit": "Years"
|
|
},
|
|
"vitalStatus": {
|
|
"code": "alive",
|
|
"display": "Lebend",
|
|
"system": "dnpm-dip/patient/vital-status"
|
|
}
|
|
},
|
|
"episodesOfCare": [
|
|
{
|
|
"id": "5481850f-f266-4d2f-8fbc-6bb790680d8f",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"period": {
|
|
"start": "2024-12-24"
|
|
},
|
|
"diagnoses": [
|
|
{
|
|
"id": "c1731d5e-6cca-4f8e-bca6-de233926106e",
|
|
"type": "MTBDiagnosis"
|
|
}
|
|
]
|
|
}
|
|
],
|
|
"diagnoses": [
|
|
{
|
|
"id": "c1731d5e-6cca-4f8e-bca6-de233926106e",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"recordedOn": "2023-03-01",
|
|
"type": {
|
|
"history": [
|
|
{
|
|
"value": {
|
|
"code": "main",
|
|
"display": "Hauptdiagnose",
|
|
"system": "dnpm-dip/mtb/diagnosis/type"
|
|
},
|
|
"date": "2023-03-01"
|
|
}
|
|
]
|
|
},
|
|
"code": {
|
|
"code": "C50.1",
|
|
"display": "Bösartige Neubildung: Zentraler Drüsenkörper der Brustdrüse",
|
|
"system": "http://fhir.de/CodeSystem/bfarm/icd-10-gm",
|
|
"version": "2025"
|
|
},
|
|
"topography": {
|
|
"code": "C50.1",
|
|
"display": "Zentraler Drüsenkörper der Brust",
|
|
"system": "urn:oid:2.16.840.1.113883.6.43.1",
|
|
"version": "Zweite Revision"
|
|
},
|
|
"grading": {
|
|
"history": [
|
|
{
|
|
"date": "2023-03-01",
|
|
"codes": [
|
|
{
|
|
"code": "U",
|
|
"display": "U = unbekannt",
|
|
"system": "https://www.basisdatensatz.de/feld/161/grading"
|
|
},
|
|
{
|
|
"code": "2",
|
|
"display": "Diffuse astrocytoma",
|
|
"system": "dnpm-dip/mtb/who-grading-cns-tumors",
|
|
"version": "2021"
|
|
}
|
|
]
|
|
}
|
|
]
|
|
},
|
|
"staging": {
|
|
"history": [
|
|
{
|
|
"date": "2023-03-01",
|
|
"method": {
|
|
"code": "clinical",
|
|
"display": "Klinisch",
|
|
"system": "dnpm-dip/mtb/tumor-staging/method"
|
|
},
|
|
"tnmClassification": {
|
|
"tumor": {
|
|
"code": "T1",
|
|
"system": "UICC"
|
|
},
|
|
"nodes": {
|
|
"code": "N2",
|
|
"system": "UICC"
|
|
},
|
|
"metastasis": {
|
|
"code": "Mx",
|
|
"system": "UICC"
|
|
}
|
|
},
|
|
"otherClassifications": [
|
|
{
|
|
"code": "unknown",
|
|
"display": "Unbekannt",
|
|
"system": "dnpm-dip/mtb/diagnosis/kds-tumor-spread"
|
|
}
|
|
]
|
|
}
|
|
]
|
|
},
|
|
"guidelineTreatmentStatus": {
|
|
"code": "unknown",
|
|
"display": "Unbekannt",
|
|
"system": "dnpm-dip/mtb/diagnosis/guideline-treatment-status"
|
|
},
|
|
"notes": [
|
|
"Notes on the tumor diagnosis..."
|
|
]
|
|
}
|
|
],
|
|
"familyMemberHistories": [
|
|
{
|
|
"id": "f982b161-f8a3-4b5b-a390-1ef0d84efc1b",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"relationship": {
|
|
"code": "EXT",
|
|
"display": "Verwandter weiteren Grades",
|
|
"system": "dnpm-dip/mtb/family-meber-history/relationship-type"
|
|
}
|
|
}
|
|
],
|
|
"guidelineTherapies": [
|
|
{
|
|
"id": "0c696b1a-d123-419b-9a6f-e79322392f4e",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"reason": {
|
|
"id": "c1731d5e-6cca-4f8e-bca6-de233926106e",
|
|
"display": "Bösartige Neubildung: Zentraler Drüsenkörper der Brustdrüse",
|
|
"type": "MTBDiagnosis"
|
|
},
|
|
"therapyLine": 3,
|
|
"intent": {
|
|
"code": "X",
|
|
"display": "Keine Angabe",
|
|
"system": "dnpm-dip/therapy/intent"
|
|
},
|
|
"category": {
|
|
"code": "I",
|
|
"display": "Intraopterativ",
|
|
"system": "dnpm-dip/therapy/category"
|
|
},
|
|
"recordedOn": "2025-06-24",
|
|
"status": {
|
|
"code": "stopped",
|
|
"display": "Abgebrochen",
|
|
"system": "dnpm-dip/therapy/status"
|
|
},
|
|
"statusReason": {
|
|
"code": "progression",
|
|
"display": "Progression",
|
|
"system": "dnpm-dip/therapy/status-reason"
|
|
},
|
|
"period": {
|
|
"start": "2024-04-24",
|
|
"end": "2024-12-18"
|
|
},
|
|
"medication": [
|
|
{
|
|
"code": "L01EX02",
|
|
"display": "Sorafenib",
|
|
"system": "http://fhir.de/CodeSystem/bfarm/atc",
|
|
"version": "2025"
|
|
}
|
|
],
|
|
"notes": [
|
|
"Notes on the therapy..."
|
|
]
|
|
},
|
|
{
|
|
"id": "da26f4c4-834e-4f6a-86eb-4df13c4a442f",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"reason": {
|
|
"id": "c1731d5e-6cca-4f8e-bca6-de233926106e",
|
|
"display": "Bösartige Neubildung: Zentraler Drüsenkörper der Brustdrüse",
|
|
"type": "MTBDiagnosis"
|
|
},
|
|
"therapyLine": 4,
|
|
"intent": {
|
|
"code": "X",
|
|
"display": "Keine Angabe",
|
|
"system": "dnpm-dip/therapy/intent"
|
|
},
|
|
"category": {
|
|
"code": "A",
|
|
"display": "Adjuvant",
|
|
"system": "dnpm-dip/therapy/category"
|
|
},
|
|
"recordedOn": "2025-06-24",
|
|
"status": {
|
|
"code": "stopped",
|
|
"display": "Abgebrochen",
|
|
"system": "dnpm-dip/therapy/status"
|
|
},
|
|
"statusReason": {
|
|
"code": "progression",
|
|
"display": "Progression",
|
|
"system": "dnpm-dip/therapy/status-reason"
|
|
},
|
|
"period": {
|
|
"start": "2024-06-24",
|
|
"end": "2025-02-24"
|
|
},
|
|
"medication": [
|
|
{
|
|
"code": "L01EX13",
|
|
"display": "Gilteritinib",
|
|
"system": "http://fhir.de/CodeSystem/bfarm/atc",
|
|
"version": "2025"
|
|
}
|
|
],
|
|
"notes": [
|
|
"Notes on the therapy..."
|
|
]
|
|
}
|
|
],
|
|
"guidelineProcedures": [
|
|
{
|
|
"id": "09ac6bfb-05bb-4c8f-b65a-dae96407939c",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"reason": {
|
|
"id": "c1731d5e-6cca-4f8e-bca6-de233926106e",
|
|
"display": "Bösartige Neubildung: Zentraler Drüsenkörper der Brustdrüse",
|
|
"type": "MTBDiagnosis"
|
|
},
|
|
"therapyLine": 3,
|
|
"intent": {
|
|
"code": "X",
|
|
"display": "Keine Angabe",
|
|
"system": "dnpm-dip/therapy/intent"
|
|
},
|
|
"code": {
|
|
"code": "nuclear-medicine",
|
|
"display": "Nuklearmedizinische Therapie",
|
|
"system": "dnpm-dip/mtb/procedure/type"
|
|
},
|
|
"status": {
|
|
"code": "stopped",
|
|
"display": "Abgebrochen",
|
|
"system": "dnpm-dip/therapy/status"
|
|
},
|
|
"statusReason": {
|
|
"code": "patient-death",
|
|
"display": "Tod",
|
|
"system": "dnpm-dip/therapy/status-reason"
|
|
},
|
|
"recordedOn": "2025-06-24",
|
|
"period": {
|
|
"start": "2024-12-24"
|
|
},
|
|
"notes": [
|
|
"Notes on the therapeutic procedure..."
|
|
]
|
|
},
|
|
{
|
|
"id": "1d12955f-216f-4731-8a37-e2eca4c2a735",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"reason": {
|
|
"id": "c1731d5e-6cca-4f8e-bca6-de233926106e",
|
|
"display": "Bösartige Neubildung: Zentraler Drüsenkörper der Brustdrüse",
|
|
"type": "MTBDiagnosis"
|
|
},
|
|
"therapyLine": 1,
|
|
"intent": {
|
|
"code": "S",
|
|
"display": "Sonstiges",
|
|
"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": "progression",
|
|
"display": "Progression",
|
|
"system": "dnpm-dip/therapy/status-reason"
|
|
},
|
|
"recordedOn": "2025-06-24",
|
|
"period": {
|
|
"start": "2024-12-24"
|
|
},
|
|
"notes": [
|
|
"Notes on the therapeutic procedure..."
|
|
]
|
|
}
|
|
],
|
|
"performanceStatus": [
|
|
{
|
|
"id": "7cf3d19b-a537-47e4-b7f0-d324e8b1ad70",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"effectiveDate": "2025-06-24",
|
|
"value": {
|
|
"code": "1",
|
|
"display": "ECOG 1",
|
|
"system": "ECOG-Performance-Status"
|
|
}
|
|
}
|
|
],
|
|
"specimens": [
|
|
{
|
|
"id": "c3f30fe7-d193-4cde-a3c2-ef8f2497df51",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"diagnosis": {
|
|
"id": "c1731d5e-6cca-4f8e-bca6-de233926106e",
|
|
"type": "MTBDiagnosis"
|
|
},
|
|
"type": {
|
|
"code": "unknown",
|
|
"display": "Unbekannt",
|
|
"system": "dnpm-dip/mtb/tumor-specimen/type"
|
|
},
|
|
"collection": {
|
|
"date": "2025-06-24",
|
|
"method": {
|
|
"code": "unknown",
|
|
"display": "Unbekannt",
|
|
"system": "dnpm-dip/mtb/tumor-specimen/collection/method"
|
|
},
|
|
"localization": {
|
|
"code": "unknown",
|
|
"display": "Unbekannt",
|
|
"system": "dnpm-dip/mtb/tumor-specimen/collection/localization"
|
|
}
|
|
}
|
|
}
|
|
],
|
|
"priorDiagnosticReports": [
|
|
{
|
|
"id": "0209a1fa-3948-4bc5-a2f5-988818057544",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"performer": {
|
|
"id": "xyz",
|
|
"display": "Molekular-Pathologie UKx",
|
|
"type": "Institute"
|
|
},
|
|
"issuedOn": "2025-06-24",
|
|
"specimen": {
|
|
"id": "c3f30fe7-d193-4cde-a3c2-ef8f2497df51",
|
|
"type": "TumorSpecimen"
|
|
},
|
|
"type": {
|
|
"code": "fusion-panel",
|
|
"display": "Fusionspanel",
|
|
"system": "dnpm-dip/mtb/molecular-diagnostics/type"
|
|
},
|
|
"results": [
|
|
"Result of diagnostics..."
|
|
]
|
|
}
|
|
],
|
|
"histologyReports": [
|
|
{
|
|
"id": "1c51bb6f-b551-43a4-9923-6db7fe36440c",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"specimen": {
|
|
"id": "c3f30fe7-d193-4cde-a3c2-ef8f2497df51",
|
|
"type": "TumorSpecimen"
|
|
},
|
|
"issuedOn": "2025-06-24",
|
|
"results": {
|
|
"tumorMorphology": {
|
|
"id": "a177e88e-af76-45c8-ba93-e2f2339888a0",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"specimen": {
|
|
"id": "c3f30fe7-d193-4cde-a3c2-ef8f2497df51",
|
|
"type": "TumorSpecimen"
|
|
},
|
|
"value": {
|
|
"code": "9719/3",
|
|
"display": "Nasales NK/T-Zell-Lymphom",
|
|
"system": "urn:oid:2.16.840.1.113883.6.43.1",
|
|
"version": "Zweite Revision"
|
|
},
|
|
"note": "Notes..."
|
|
},
|
|
"tumorCellContent": {
|
|
"id": "32605a2f-4c5c-4f5a-9909-326955405fe0",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"specimen": {
|
|
"id": "c3f30fe7-d193-4cde-a3c2-ef8f2497df51",
|
|
"type": "TumorSpecimen"
|
|
},
|
|
"method": {
|
|
"code": "histologic",
|
|
"display": "Histologisch",
|
|
"system": "dnpm-dip/mtb/tumor-cell-content/method"
|
|
},
|
|
"value": 0.40875903241796807
|
|
}
|
|
}
|
|
}
|
|
],
|
|
"ihcReports": [
|
|
{
|
|
"id": "ced8a836-262e-4067-b272-94c8f9222446",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"specimen": {
|
|
"id": "c3f30fe7-d193-4cde-a3c2-ef8f2497df51",
|
|
"type": "TumorSpecimen"
|
|
},
|
|
"issuedOn": "2025-06-24",
|
|
"results": {
|
|
"proteinExpression": [
|
|
{
|
|
"id": "07bdd4f4-6df7-4c22-9ef2-2abb86cf4666",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"protein": {
|
|
"code": "HGNC:3942",
|
|
"display": "MTOR",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"value": {
|
|
"code": "not-exp",
|
|
"display": "Nicht exprimiert",
|
|
"system": "dnpm-dip/mtb/ihc/protein-expression/result"
|
|
},
|
|
"tpsScore": 21,
|
|
"icScore": {
|
|
"code": "1",
|
|
"display": ">= 1%",
|
|
"system": "dnpm-dip/mtb/ihc/protein-expression/ic-score"
|
|
},
|
|
"tcScore": {
|
|
"code": "6",
|
|
"display": ">= 75%",
|
|
"system": "dnpm-dip/mtb/ihc/protein-expression/tc-score"
|
|
}
|
|
},
|
|
{
|
|
"id": "38ac3c86-7d13-4d5d-a85d-7d79846aa85d",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"protein": {
|
|
"code": "HGNC:886",
|
|
"display": "ATRX",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"value": {
|
|
"code": "3+",
|
|
"display": "3+",
|
|
"system": "dnpm-dip/mtb/ihc/protein-expression/result"
|
|
},
|
|
"tpsScore": 46,
|
|
"icScore": {
|
|
"code": "0",
|
|
"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": "002dd577-7a1e-4e47-ae63-bc84e641565e",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"protein": {
|
|
"code": "HGNC:34",
|
|
"display": "ABCA4",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"value": {
|
|
"code": "not-exp",
|
|
"display": "Nicht exprimiert",
|
|
"system": "dnpm-dip/mtb/ihc/protein-expression/result"
|
|
},
|
|
"tpsScore": 12,
|
|
"icScore": {
|
|
"code": "0",
|
|
"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": "70cfa37b-6a87-4108-a7ea-99c7c2f210dc",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"protein": {
|
|
"code": "HGNC:3690",
|
|
"display": "FGFR3",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"value": {
|
|
"code": "not-exp",
|
|
"display": "Nicht exprimiert",
|
|
"system": "dnpm-dip/mtb/ihc/protein-expression/result"
|
|
},
|
|
"tpsScore": 29,
|
|
"icScore": {
|
|
"code": "0",
|
|
"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": "cad30474-e6e2-4923-bd05-57bbce01708c",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"protein": {
|
|
"code": "HGNC:1753",
|
|
"display": "CDH13",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"value": {
|
|
"code": "unknown",
|
|
"display": "untersucht, kein Ergebnis",
|
|
"system": "dnpm-dip/mtb/ihc/protein-expression/result"
|
|
},
|
|
"tpsScore": 51,
|
|
"icScore": {
|
|
"code": "2",
|
|
"display": ">= 5%",
|
|
"system": "dnpm-dip/mtb/ihc/protein-expression/ic-score"
|
|
},
|
|
"tcScore": {
|
|
"code": "3",
|
|
"display": ">= 10%",
|
|
"system": "dnpm-dip/mtb/ihc/protein-expression/tc-score"
|
|
}
|
|
},
|
|
{
|
|
"id": "cf0ff1b1-e0db-48f3-aa07-684d626f939f",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"protein": {
|
|
"code": "HGNC:1097",
|
|
"display": "BRAF",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"value": {
|
|
"code": "not-exp",
|
|
"display": "Nicht exprimiert",
|
|
"system": "dnpm-dip/mtb/ihc/protein-expression/result"
|
|
},
|
|
"tpsScore": 81,
|
|
"icScore": {
|
|
"code": "2",
|
|
"display": ">= 5%",
|
|
"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": "3788004a-2c21-4dfb-92d8-70d1b31e39d7",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"specimen": {
|
|
"id": "c3f30fe7-d193-4cde-a3c2-ef8f2497df51",
|
|
"type": "TumorSpecimen"
|
|
},
|
|
"issuedOn": "2025-06-24",
|
|
"type": {
|
|
"code": "genome-long-read",
|
|
"display": "Genome long-read",
|
|
"system": "dnpm-dip/ngs/type"
|
|
},
|
|
"metadata": [
|
|
{
|
|
"kitType": "Kit Type",
|
|
"kitManufacturer": "Manufacturer",
|
|
"sequencer": "Sequencer",
|
|
"referenceGenome": "HG19",
|
|
"pipeline": "https://github.com/pipeline-project"
|
|
}
|
|
],
|
|
"results": {
|
|
"tumorCellContent": {
|
|
"id": "26a6f41e-c2a4-4a28-ba62-95453c880579",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"specimen": {
|
|
"id": "c3f30fe7-d193-4cde-a3c2-ef8f2497df51",
|
|
"type": "TumorSpecimen"
|
|
},
|
|
"method": {
|
|
"code": "bioinformatic",
|
|
"display": "Bioinformatisch",
|
|
"system": "dnpm-dip/mtb/tumor-cell-content/method"
|
|
},
|
|
"value": 0.9426267499137174
|
|
},
|
|
"tmb": {
|
|
"id": "7357476b-fb64-452f-9f47-28babfc7941a",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"specimen": {
|
|
"id": "c3f30fe7-d193-4cde-a3c2-ef8f2497df51",
|
|
"type": "TumorSpecimen"
|
|
},
|
|
"value": {
|
|
"value": 98248,
|
|
"unit": "Mutations per megabase"
|
|
},
|
|
"interpretation": {
|
|
"code": "low",
|
|
"display": "Niedrig",
|
|
"system": "dnpm-dip/mtb/ngs/tmb/interpretation"
|
|
}
|
|
},
|
|
"brcaness": {
|
|
"id": "4e83ece7-7e39-4e46-aeae-4c8a4a726895",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"specimen": {
|
|
"id": "c3f30fe7-d193-4cde-a3c2-ef8f2497df51",
|
|
"type": "TumorSpecimen"
|
|
},
|
|
"value": 0.5,
|
|
"confidenceRange": {
|
|
"min": 0.4,
|
|
"max": 0.6
|
|
}
|
|
},
|
|
"hrdScore": {
|
|
"id": "09271615-ef4d-46c1-b6c0-527f0f319934",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"specimen": {
|
|
"id": "c3f30fe7-d193-4cde-a3c2-ef8f2497df51",
|
|
"type": "TumorSpecimen"
|
|
},
|
|
"value": 0.42630126429719584,
|
|
"components": {
|
|
"lst": 0.06218415041578196,
|
|
"loh": 0.6133607455178999,
|
|
"tai": 0.7189481437278346
|
|
},
|
|
"interpretation": {
|
|
"code": "high",
|
|
"display": "Hoch",
|
|
"system": "dnpm-dip/mtb/ngs/hrd-score/interpretation"
|
|
}
|
|
},
|
|
"simpleVariants": [
|
|
{
|
|
"id": "e4cb43e6-a81b-48cb-8b88-db384057a771",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"externalIds": [
|
|
{
|
|
"value": "8e75df42-5a8f-4ffb-8d2e-a0b725d14d29",
|
|
"system": "https://www.ncbi.nlm.nih.gov/snp"
|
|
},
|
|
{
|
|
"value": "bd219662-7470-4afb-a770-1e8c8ff15b9f",
|
|
"system": "https://cancer.sanger.ac.uk/cosmic"
|
|
}
|
|
],
|
|
"chromosome": "chr11",
|
|
"gene": {
|
|
"code": "HGNC:886",
|
|
"display": "ATRX",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"localization": [
|
|
{
|
|
"code": "intronic",
|
|
"display": "Intronic",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"transcriptId": {
|
|
"value": "ad777423-fd8c-42c2-99e5-ee4b3b217e63",
|
|
"system": "https://www.ensembl.org"
|
|
},
|
|
"exonId": "10",
|
|
"position": {
|
|
"start": 470
|
|
},
|
|
"altAllele": "T",
|
|
"refAllele": "A",
|
|
"dnaChange": "c.470A>T",
|
|
"proteinChange": "p.Gly12Cys",
|
|
"readDepth": 7,
|
|
"allelicFrequency": 0.26942267625669825,
|
|
"interpretation": {
|
|
"code": "1",
|
|
"display": "Benign",
|
|
"system": "https://www.ncbi.nlm.nih.gov/clinvar"
|
|
}
|
|
},
|
|
{
|
|
"id": "a9487572-a2a5-4074-ba8b-1e73cf92b378",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"externalIds": [
|
|
{
|
|
"value": "06722bb8-59d3-40f1-9a83-3e0587d69cbb",
|
|
"system": "https://www.ncbi.nlm.nih.gov/snp"
|
|
},
|
|
{
|
|
"value": "3da84ceb-a88a-4a88-9c4a-cced9011d171",
|
|
"system": "https://cancer.sanger.ac.uk/cosmic"
|
|
}
|
|
],
|
|
"chromosome": "chr6",
|
|
"gene": {
|
|
"code": "HGNC:11998",
|
|
"display": "TP53",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"localization": [
|
|
{
|
|
"code": "intergenic",
|
|
"display": "Intergenic",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"transcriptId": {
|
|
"value": "2753c548-08cb-4bb9-8a8f-99f16efe0cf3",
|
|
"system": "https://www.ensembl.org"
|
|
},
|
|
"exonId": "4",
|
|
"position": {
|
|
"start": 49
|
|
},
|
|
"altAllele": "T",
|
|
"refAllele": "G",
|
|
"dnaChange": "c.49G>T",
|
|
"proteinChange": "p.Cys28_Lys29delinsTrp",
|
|
"readDepth": 14,
|
|
"allelicFrequency": 0.07637742193107444,
|
|
"interpretation": {
|
|
"code": "3",
|
|
"display": "Uncertain significance",
|
|
"system": "https://www.ncbi.nlm.nih.gov/clinvar"
|
|
}
|
|
},
|
|
{
|
|
"id": "97975db5-6559-4bd5-8c89-ef5a34097f11",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"externalIds": [
|
|
{
|
|
"value": "145627c2-bf6c-4cc8-8cbf-ec2816d58142",
|
|
"system": "https://www.ncbi.nlm.nih.gov/snp"
|
|
},
|
|
{
|
|
"value": "ffd8916a-95a7-4750-ab49-a25a576009e1",
|
|
"system": "https://cancer.sanger.ac.uk/cosmic"
|
|
}
|
|
],
|
|
"chromosome": "chr7",
|
|
"gene": {
|
|
"code": "HGNC:886",
|
|
"display": "ATRX",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"localization": [
|
|
{
|
|
"code": "intergenic",
|
|
"display": "Intergenic",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"transcriptId": {
|
|
"value": "c92dde51-20b5-4c4b-af2d-f4ea9ab58932",
|
|
"system": "https://www.ncbi.nlm.nih.gov/refseq"
|
|
},
|
|
"exonId": "11",
|
|
"position": {
|
|
"start": 223
|
|
},
|
|
"altAllele": "A",
|
|
"refAllele": "T",
|
|
"dnaChange": "c.223T>A",
|
|
"proteinChange": "p.Cys28delinsTrpVal",
|
|
"readDepth": 17,
|
|
"allelicFrequency": 0.36264101766053647,
|
|
"interpretation": {
|
|
"code": "2",
|
|
"display": "Likely benign",
|
|
"system": "https://www.ncbi.nlm.nih.gov/clinvar"
|
|
}
|
|
},
|
|
{
|
|
"id": "9b1793a8-6f73-44d1-a840-cd0314206cb9",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"externalIds": [
|
|
{
|
|
"value": "9cfa6eec-1d3b-4d9f-8b36-ad1d69e4d853",
|
|
"system": "https://www.ncbi.nlm.nih.gov/snp"
|
|
},
|
|
{
|
|
"value": "668d1343-38fc-45bd-b67e-c80b092bc737",
|
|
"system": "https://cancer.sanger.ac.uk/cosmic"
|
|
}
|
|
],
|
|
"chromosome": "chr19",
|
|
"gene": {
|
|
"code": "HGNC:11998",
|
|
"display": "TP53",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"localization": [
|
|
{
|
|
"code": "intronic",
|
|
"display": "Intronic",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"transcriptId": {
|
|
"value": "fdf36c25-71a8-4782-bffb-9a03890b1c32",
|
|
"system": "https://www.ncbi.nlm.nih.gov/refseq"
|
|
},
|
|
"exonId": "5",
|
|
"position": {
|
|
"start": 450
|
|
},
|
|
"altAllele": "C",
|
|
"refAllele": "G",
|
|
"dnaChange": "c.450G>C",
|
|
"proteinChange": "p.Gly2_Met46del",
|
|
"readDepth": 18,
|
|
"allelicFrequency": 0.17830646111898962,
|
|
"interpretation": {
|
|
"code": "1",
|
|
"display": "Benign",
|
|
"system": "https://www.ncbi.nlm.nih.gov/clinvar"
|
|
}
|
|
},
|
|
{
|
|
"id": "314a3a51-c9e5-42ab-88b7-15392cc40529",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"externalIds": [
|
|
{
|
|
"value": "feb21710-a2b3-4bce-9125-20b554388f58",
|
|
"system": "https://www.ncbi.nlm.nih.gov/snp"
|
|
},
|
|
{
|
|
"value": "2a98ad48-c913-4c0a-acbd-f839ee19d883",
|
|
"system": "https://cancer.sanger.ac.uk/cosmic"
|
|
}
|
|
],
|
|
"chromosome": "chr9",
|
|
"gene": {
|
|
"code": "HGNC:1097",
|
|
"display": "BRAF",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"localization": [
|
|
{
|
|
"code": "regulatory-region",
|
|
"display": "Regulatory region",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"transcriptId": {
|
|
"value": "ce4872b5-737f-4e9f-9f2f-bde6213cca5d",
|
|
"system": "https://www.ncbi.nlm.nih.gov/refseq"
|
|
},
|
|
"exonId": "3",
|
|
"position": {
|
|
"start": 61
|
|
},
|
|
"altAllele": "A",
|
|
"refAllele": "G",
|
|
"dnaChange": "c.61G>A",
|
|
"proteinChange": "p.Cys28_Lys29delinsTrp",
|
|
"readDepth": 21,
|
|
"allelicFrequency": 0.9523091015802564,
|
|
"interpretation": {
|
|
"code": "2",
|
|
"display": "Likely benign",
|
|
"system": "https://www.ncbi.nlm.nih.gov/clinvar"
|
|
}
|
|
},
|
|
{
|
|
"id": "47fa0995-b468-4516-ac55-9318830fd616",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"externalIds": [
|
|
{
|
|
"value": "e1a320af-7a9e-4163-8894-bd2c4311bb49",
|
|
"system": "https://www.ncbi.nlm.nih.gov/snp"
|
|
},
|
|
{
|
|
"value": "e53e0494-e897-4272-86d1-5d4614eff405",
|
|
"system": "https://cancer.sanger.ac.uk/cosmic"
|
|
}
|
|
],
|
|
"chromosome": "chrX",
|
|
"gene": {
|
|
"code": "HGNC:21597",
|
|
"display": "ACAD10",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"localization": [
|
|
{
|
|
"code": "splicing-region",
|
|
"display": "splicing region",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"transcriptId": {
|
|
"value": "4f365f89-e0e0-4019-b84c-67efb2ca118d",
|
|
"system": "https://www.ensembl.org"
|
|
},
|
|
"exonId": "2",
|
|
"position": {
|
|
"start": 577
|
|
},
|
|
"altAllele": "G",
|
|
"refAllele": "C",
|
|
"dnaChange": "c.577C>G",
|
|
"proteinChange": "p.Trp24=/Cys",
|
|
"readDepth": 17,
|
|
"allelicFrequency": 0.23140283502604808,
|
|
"interpretation": {
|
|
"code": "2",
|
|
"display": "Likely benign",
|
|
"system": "https://www.ncbi.nlm.nih.gov/clinvar"
|
|
}
|
|
},
|
|
{
|
|
"id": "828dfee4-37e4-485a-8c6f-49f863903f3f",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"externalIds": [
|
|
{
|
|
"value": "a05503d8-3ebc-43e8-a7bd-c6f2893b87fd",
|
|
"system": "https://www.ncbi.nlm.nih.gov/snp"
|
|
},
|
|
{
|
|
"value": "2868dd12-0a79-4d33-b421-8d4fa94a79f2",
|
|
"system": "https://cancer.sanger.ac.uk/cosmic"
|
|
}
|
|
],
|
|
"chromosome": "chr22",
|
|
"gene": {
|
|
"code": "HGNC:886",
|
|
"display": "ATRX",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"localization": [
|
|
{
|
|
"code": "coding-region",
|
|
"display": "Coding region",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"transcriptId": {
|
|
"value": "01fbcd0c-6518-4910-801b-bd7a7da9bdf1",
|
|
"system": "https://www.ncbi.nlm.nih.gov/refseq"
|
|
},
|
|
"exonId": "11",
|
|
"position": {
|
|
"start": 535
|
|
},
|
|
"altAllele": "T",
|
|
"refAllele": "C",
|
|
"dnaChange": "c.535C>T",
|
|
"proteinChange": "p.Arg78_Gly79insX[23]",
|
|
"readDepth": 23,
|
|
"allelicFrequency": 0.6339367647943907,
|
|
"interpretation": {
|
|
"code": "2",
|
|
"display": "Likely benign",
|
|
"system": "https://www.ncbi.nlm.nih.gov/clinvar"
|
|
}
|
|
}
|
|
],
|
|
"copyNumberVariants": [
|
|
{
|
|
"id": "2a7b4922-3cc0-4504-b5d4-fda8a76fc9ac",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"chromosome": "chr20",
|
|
"localization": [
|
|
{
|
|
"code": "intronic",
|
|
"display": "Intronic",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"startRange": {
|
|
"start": 47283,
|
|
"end": 47325
|
|
},
|
|
"endRange": {
|
|
"start": 47554,
|
|
"end": 47604
|
|
},
|
|
"totalCopyNumber": 3,
|
|
"relativeCopyNumber": 0.5183732460975659,
|
|
"cnA": 0.4575487225914149,
|
|
"cnB": 0.2296504258992984,
|
|
"reportedAffectedGenes": [
|
|
{
|
|
"code": "HGNC:5173",
|
|
"display": "HRAS",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:3942",
|
|
"display": "MTOR",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:1777",
|
|
"display": "CDK6",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:76",
|
|
"display": "ABL1",
|
|
"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: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:391",
|
|
"display": "AKT1",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:21298",
|
|
"display": "AACS",
|
|
"system": "https://www.genenames.org/"
|
|
}
|
|
]
|
|
},
|
|
{
|
|
"id": "da5cc035-4c3a-4178-b8f1-9beb10e26bfa",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"chromosome": "chr12",
|
|
"localization": [
|
|
{
|
|
"code": "coding-region",
|
|
"display": "Coding region",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"startRange": {
|
|
"start": 47366,
|
|
"end": 47408
|
|
},
|
|
"endRange": {
|
|
"start": 47422,
|
|
"end": 47472
|
|
},
|
|
"totalCopyNumber": 5,
|
|
"relativeCopyNumber": 0.042907471951150966,
|
|
"cnA": 0.7031003234003745,
|
|
"cnB": 0.45868310119316547,
|
|
"reportedAffectedGenes": [
|
|
{
|
|
"code": "HGNC:1097",
|
|
"display": "BRAF",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:886",
|
|
"display": "ATRX",
|
|
"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": "high-level-gain",
|
|
"display": "High-level-gain",
|
|
"system": "dnpm-dip/mtb/ngs-report/cnv/type"
|
|
},
|
|
"copyNumberNeutralLoH": [
|
|
{
|
|
"code": "HGNC:3690",
|
|
"display": "FGFR3",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:391",
|
|
"display": "AKT1",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:3689",
|
|
"display": "FGFR2",
|
|
"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/"
|
|
},
|
|
{
|
|
"code": "HGNC:25662",
|
|
"display": "AAGAB",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:1100",
|
|
"display": "BRCA1",
|
|
"system": "https://www.genenames.org/"
|
|
}
|
|
]
|
|
},
|
|
{
|
|
"id": "6d8cfac1-7809-46c3-afcb-cf663de78f7f",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"chromosome": "chr2",
|
|
"localization": [
|
|
{
|
|
"code": "intergenic",
|
|
"display": "Intergenic",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"startRange": {
|
|
"start": 21639,
|
|
"end": 21681
|
|
},
|
|
"endRange": {
|
|
"start": 22558,
|
|
"end": 22608
|
|
},
|
|
"totalCopyNumber": 4,
|
|
"relativeCopyNumber": 0.0963886754685026,
|
|
"cnA": 0.7203179871076737,
|
|
"cnB": 0.34976893933294917,
|
|
"reportedAffectedGenes": [
|
|
{
|
|
"code": "HGNC:33",
|
|
"display": "ABCA3",
|
|
"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:1100",
|
|
"display": "BRCA1",
|
|
"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:3689",
|
|
"display": "FGFR2",
|
|
"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: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:1097",
|
|
"display": "BRAF",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:391",
|
|
"display": "AKT1",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:6407",
|
|
"display": "KRAS",
|
|
"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/"
|
|
}
|
|
]
|
|
},
|
|
{
|
|
"id": "79b1b2f1-eece-469a-bf9d-d742ace3b4f5",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"chromosome": "chr4",
|
|
"localization": [
|
|
{
|
|
"code": "splicing-region",
|
|
"display": "splicing region",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"startRange": {
|
|
"start": 10032,
|
|
"end": 10074
|
|
},
|
|
"endRange": {
|
|
"start": 10429,
|
|
"end": 10479
|
|
},
|
|
"totalCopyNumber": 2,
|
|
"relativeCopyNumber": 0.43102997556480316,
|
|
"cnA": 0.0626602855041446,
|
|
"cnB": 0.9272306017862723,
|
|
"reportedAffectedGenes": [
|
|
{
|
|
"code": "HGNC:3690",
|
|
"display": "FGFR3",
|
|
"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/"
|
|
},
|
|
{
|
|
"code": "HGNC:1097",
|
|
"display": "BRAF",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:25662",
|
|
"display": "AAGAB",
|
|
"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:11998",
|
|
"display": "TP53",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:25829",
|
|
"display": "ABRAXAS1",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:391",
|
|
"display": "AKT1",
|
|
"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:18615",
|
|
"display": "BRAFP1",
|
|
"system": "https://www.genenames.org/"
|
|
}
|
|
]
|
|
},
|
|
{
|
|
"id": "7ef061c2-25d3-4ab1-b3b5-415711e74763",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"chromosome": "chr1",
|
|
"localization": [
|
|
{
|
|
"code": "intronic",
|
|
"display": "Intronic",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"startRange": {
|
|
"start": 21367,
|
|
"end": 21409
|
|
},
|
|
"endRange": {
|
|
"start": 22243,
|
|
"end": 22293
|
|
},
|
|
"totalCopyNumber": 6,
|
|
"relativeCopyNumber": 0.5325580143964234,
|
|
"cnA": 0.001090613467988999,
|
|
"cnB": 0.796867620835479,
|
|
"reportedAffectedGenes": [
|
|
{
|
|
"code": "HGNC:11998",
|
|
"display": "TP53",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:25829",
|
|
"display": "ABRAXAS1",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:76",
|
|
"display": "ABL1",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:6407",
|
|
"display": "KRAS",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:1097",
|
|
"display": "BRAF",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:1100",
|
|
"display": "BRCA1",
|
|
"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/"
|
|
}
|
|
],
|
|
"reportedFocality": "partial q-arm",
|
|
"type": {
|
|
"code": "high-level-gain",
|
|
"display": "High-level-gain",
|
|
"system": "dnpm-dip/mtb/ngs-report/cnv/type"
|
|
},
|
|
"copyNumberNeutralLoH": [
|
|
{
|
|
"code": "HGNC:25829",
|
|
"display": "ABRAXAS1",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:6973",
|
|
"display": "MDM2",
|
|
"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:886",
|
|
"display": "ATRX",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:3689",
|
|
"display": "FGFR2",
|
|
"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": "b6c87ffe-cafa-4017-8304-cc7d5e5ed6ef",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"chromosome": "chr4",
|
|
"localization": [
|
|
{
|
|
"code": "intergenic",
|
|
"display": "Intergenic",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"startRange": {
|
|
"start": 28913,
|
|
"end": 28955
|
|
},
|
|
"endRange": {
|
|
"start": 29073,
|
|
"end": 29123
|
|
},
|
|
"totalCopyNumber": 5,
|
|
"relativeCopyNumber": 0.24079048197395347,
|
|
"cnA": 0.8864208860638342,
|
|
"cnB": 0.9335254612742215,
|
|
"reportedAffectedGenes": [
|
|
{
|
|
"code": "HGNC:11998",
|
|
"display": "TP53",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:25829",
|
|
"display": "ABRAXAS1",
|
|
"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:9967",
|
|
"display": "RET",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:3689",
|
|
"display": "FGFR2",
|
|
"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: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: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:21298",
|
|
"display": "AACS",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:34",
|
|
"display": "ABCA4",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:18615",
|
|
"display": "BRAFP1",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:1097",
|
|
"display": "BRAF",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
{
|
|
"code": "HGNC:1100",
|
|
"display": "BRCA1",
|
|
"system": "https://www.genenames.org/"
|
|
}
|
|
]
|
|
}
|
|
],
|
|
"dnaFusions": [
|
|
{
|
|
"id": "80439a87-61a6-449f-ab0e-ea207336b650",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"localization": [
|
|
{
|
|
"code": "splicing-region",
|
|
"display": "splicing region",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"fusionPartner5prime": {
|
|
"chromosome": "chr10",
|
|
"gene": {
|
|
"code": "HGNC:1100",
|
|
"display": "BRCA1",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 988
|
|
},
|
|
"fusionPartner3prime": {
|
|
"chromosome": "chr19",
|
|
"gene": {
|
|
"code": "HGNC:1097",
|
|
"display": "BRAF",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 337
|
|
},
|
|
"reportedNumReads": 7
|
|
},
|
|
{
|
|
"id": "9d1e2965-d90a-40f1-b40f-c73de15980cf",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"localization": [
|
|
{
|
|
"code": "regulatory-region",
|
|
"display": "Regulatory region",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"fusionPartner5prime": {
|
|
"chromosome": "chr3",
|
|
"gene": {
|
|
"code": "HGNC:6973",
|
|
"display": "MDM2",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 61
|
|
},
|
|
"fusionPartner3prime": {
|
|
"chromosome": "chrX",
|
|
"gene": {
|
|
"code": "HGNC:886",
|
|
"display": "ATRX",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 728
|
|
},
|
|
"reportedNumReads": 5
|
|
},
|
|
{
|
|
"id": "16efbf55-955f-4044-94db-905b74c67d6e",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"localization": [
|
|
{
|
|
"code": "coding-region",
|
|
"display": "Coding region",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"fusionPartner5prime": {
|
|
"chromosome": "chr3",
|
|
"gene": {
|
|
"code": "HGNC:391",
|
|
"display": "AKT1",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 307
|
|
},
|
|
"fusionPartner3prime": {
|
|
"chromosome": "chr22",
|
|
"gene": {
|
|
"code": "HGNC:11998",
|
|
"display": "TP53",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 297
|
|
},
|
|
"reportedNumReads": 3
|
|
},
|
|
{
|
|
"id": "b184adc5-50e4-4a48-8fc4-16442eadec78",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"localization": [
|
|
{
|
|
"code": "splicing-region",
|
|
"display": "splicing region",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"fusionPartner5prime": {
|
|
"chromosome": "chr21",
|
|
"gene": {
|
|
"code": "HGNC:1753",
|
|
"display": "CDH13",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 732
|
|
},
|
|
"fusionPartner3prime": {
|
|
"chromosome": "chr14",
|
|
"gene": {
|
|
"code": "HGNC:3689",
|
|
"display": "FGFR2",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 72
|
|
},
|
|
"reportedNumReads": 5
|
|
}
|
|
],
|
|
"rnaFusions": [
|
|
{
|
|
"id": "2d813e27-e662-46b6-8bfa-62473c591a68",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"externalIds": [
|
|
{
|
|
"value": "8560bec8-434c-485a-9dcf-357903a668df",
|
|
"system": "https://cancer.sanger.ac.uk/cosmic"
|
|
}
|
|
],
|
|
"localization": [
|
|
{
|
|
"code": "intergenic",
|
|
"display": "Intergenic",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"fusionPartner5prime": {
|
|
"transcriptId": {
|
|
"value": "805a7f31-9fe1-49ed-915d-d219b71a45cd",
|
|
"system": "https://www.ncbi.nlm.nih.gov/refseq"
|
|
},
|
|
"exonId": "6",
|
|
"gene": {
|
|
"code": "HGNC:21298",
|
|
"display": "AACS",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 577,
|
|
"strand": "+"
|
|
},
|
|
"fusionPartner3prime": {
|
|
"transcriptId": {
|
|
"value": "2ae47187-95cb-4d8c-95f9-6a914fd928f7",
|
|
"system": "https://www.ensembl.org"
|
|
},
|
|
"exonId": "3",
|
|
"gene": {
|
|
"code": "HGNC:391",
|
|
"display": "AKT1",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 286,
|
|
"strand": "-"
|
|
},
|
|
"effect": "Effect",
|
|
"reportedNumReads": 6
|
|
},
|
|
{
|
|
"id": "88b337a8-260a-418f-8030-6ce5cd155882",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"externalIds": [
|
|
{
|
|
"value": "32d72312-10c9-42ee-be8b-2e84a91750eb",
|
|
"system": "https://cancer.sanger.ac.uk/cosmic"
|
|
}
|
|
],
|
|
"localization": [
|
|
{
|
|
"code": "intronic",
|
|
"display": "Intronic",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"fusionPartner5prime": {
|
|
"transcriptId": {
|
|
"value": "82fce546-f37e-4091-b403-68a6c1331f32",
|
|
"system": "https://www.ensembl.org"
|
|
},
|
|
"exonId": "8",
|
|
"gene": {
|
|
"code": "HGNC:1097",
|
|
"display": "BRAF",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 215,
|
|
"strand": "-"
|
|
},
|
|
"fusionPartner3prime": {
|
|
"transcriptId": {
|
|
"value": "74784723-528c-463b-965a-7b935ef6b892",
|
|
"system": "https://www.ensembl.org"
|
|
},
|
|
"exonId": "2",
|
|
"gene": {
|
|
"code": "HGNC:34",
|
|
"display": "ABCA4",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 694,
|
|
"strand": "-"
|
|
},
|
|
"effect": "Effect",
|
|
"reportedNumReads": 8
|
|
},
|
|
{
|
|
"id": "139e3749-4ce8-4add-aff8-d50edb63a910",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"externalIds": [
|
|
{
|
|
"value": "ae45ead3-0e7e-4e7f-9471-80c814cb931b",
|
|
"system": "https://cancer.sanger.ac.uk/cosmic"
|
|
}
|
|
],
|
|
"localization": [
|
|
{
|
|
"code": "coding-region",
|
|
"display": "Coding region",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"fusionPartner5prime": {
|
|
"transcriptId": {
|
|
"value": "aed32d17-6067-4781-9483-cb0c01a8c183",
|
|
"system": "https://www.ncbi.nlm.nih.gov/refseq"
|
|
},
|
|
"exonId": "3",
|
|
"gene": {
|
|
"code": "HGNC:25662",
|
|
"display": "AAGAB",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 122,
|
|
"strand": "-"
|
|
},
|
|
"fusionPartner3prime": {
|
|
"transcriptId": {
|
|
"value": "8f459b0b-86b8-431c-9d86-f2454e2806c6",
|
|
"system": "https://www.ensembl.org"
|
|
},
|
|
"exonId": "11",
|
|
"gene": {
|
|
"code": "HGNC:5173",
|
|
"display": "HRAS",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 119,
|
|
"strand": "+"
|
|
},
|
|
"effect": "Effect",
|
|
"reportedNumReads": 8
|
|
},
|
|
{
|
|
"id": "8e6479b8-5870-42a0-8fa2-be8c33e9c19b",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"externalIds": [
|
|
{
|
|
"value": "d40f6710-9923-4e03-8675-46ea7ebc185a",
|
|
"system": "https://cancer.sanger.ac.uk/cosmic"
|
|
}
|
|
],
|
|
"localization": [
|
|
{
|
|
"code": "intergenic",
|
|
"display": "Intergenic",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"fusionPartner5prime": {
|
|
"transcriptId": {
|
|
"value": "958a73f6-3bb0-4491-b916-58cd5a968f35",
|
|
"system": "https://www.ncbi.nlm.nih.gov/refseq"
|
|
},
|
|
"exonId": "10",
|
|
"gene": {
|
|
"code": "HGNC:25662",
|
|
"display": "AAGAB",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 86,
|
|
"strand": "-"
|
|
},
|
|
"fusionPartner3prime": {
|
|
"transcriptId": {
|
|
"value": "ef3d8f99-a777-4350-b825-e2895355cc8d",
|
|
"system": "https://www.ensembl.org"
|
|
},
|
|
"exonId": "11",
|
|
"gene": {
|
|
"code": "HGNC:1097",
|
|
"display": "BRAF",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 310,
|
|
"strand": "+"
|
|
},
|
|
"effect": "Effect",
|
|
"reportedNumReads": 8
|
|
},
|
|
{
|
|
"id": "21613593-fe48-4330-9bf8-d986e885353b",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"externalIds": [
|
|
{
|
|
"value": "963a8d60-d1d3-4e4a-904e-4727f4d1604d",
|
|
"system": "https://cancer.sanger.ac.uk/cosmic"
|
|
}
|
|
],
|
|
"localization": [
|
|
{
|
|
"code": "intronic",
|
|
"display": "Intronic",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"fusionPartner5prime": {
|
|
"transcriptId": {
|
|
"value": "23143510-bf67-489a-9bab-c06809780e7e",
|
|
"system": "https://www.ncbi.nlm.nih.gov/refseq"
|
|
},
|
|
"exonId": "7",
|
|
"gene": {
|
|
"code": "HGNC:5173",
|
|
"display": "HRAS",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 107,
|
|
"strand": "-"
|
|
},
|
|
"fusionPartner3prime": {
|
|
"transcriptId": {
|
|
"value": "cbcb422a-3201-4b79-893e-95d8c5e75546",
|
|
"system": "https://www.ensembl.org"
|
|
},
|
|
"exonId": "9",
|
|
"gene": {
|
|
"code": "HGNC:11998",
|
|
"display": "TP53",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 517,
|
|
"strand": "+"
|
|
},
|
|
"effect": "Effect",
|
|
"reportedNumReads": 7
|
|
},
|
|
{
|
|
"id": "ec5cf70d-41cf-4ae6-80c7-f97c762b49bf",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"externalIds": [
|
|
{
|
|
"value": "05989288-3ed9-4a9e-b0e8-d71e6b00e486",
|
|
"system": "https://cancer.sanger.ac.uk/cosmic"
|
|
}
|
|
],
|
|
"localization": [
|
|
{
|
|
"code": "splicing-region",
|
|
"display": "splicing region",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"fusionPartner5prime": {
|
|
"transcriptId": {
|
|
"value": "7b5e30e2-2ad0-43ee-a420-c012525ecdc8",
|
|
"system": "https://www.ncbi.nlm.nih.gov/refseq"
|
|
},
|
|
"exonId": "8",
|
|
"gene": {
|
|
"code": "HGNC:3236",
|
|
"display": "EGFR",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 768,
|
|
"strand": "-"
|
|
},
|
|
"fusionPartner3prime": {
|
|
"transcriptId": {
|
|
"value": "7bb8a065-afaa-4f70-850f-3b4df9a62f43",
|
|
"system": "https://www.ncbi.nlm.nih.gov/refseq"
|
|
},
|
|
"exonId": "3",
|
|
"gene": {
|
|
"code": "HGNC:9967",
|
|
"display": "RET",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 720,
|
|
"strand": "-"
|
|
},
|
|
"effect": "Effect",
|
|
"reportedNumReads": 4
|
|
},
|
|
{
|
|
"id": "b11ccdea-d5ff-4fb0-ba78-4da793e4ffd8",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"externalIds": [
|
|
{
|
|
"value": "5642d5ed-d3ff-47d4-975d-070414c71c60",
|
|
"system": "https://cancer.sanger.ac.uk/cosmic"
|
|
}
|
|
],
|
|
"localization": [
|
|
{
|
|
"code": "splicing-region",
|
|
"display": "splicing region",
|
|
"system": "dnpm-dip/variant/localization"
|
|
}
|
|
],
|
|
"fusionPartner5prime": {
|
|
"transcriptId": {
|
|
"value": "04f2a51a-d782-42d2-a313-67e2ea362155",
|
|
"system": "https://www.ncbi.nlm.nih.gov/refseq"
|
|
},
|
|
"exonId": "9",
|
|
"gene": {
|
|
"code": "HGNC:21597",
|
|
"display": "ACAD10",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 575,
|
|
"strand": "-"
|
|
},
|
|
"fusionPartner3prime": {
|
|
"transcriptId": {
|
|
"value": "56e704c3-b889-4768-b33a-f0be5cc3ea4d",
|
|
"system": "https://www.ncbi.nlm.nih.gov/refseq"
|
|
},
|
|
"exonId": "6",
|
|
"gene": {
|
|
"code": "HGNC:18615",
|
|
"display": "BRAFP1",
|
|
"system": "https://www.genenames.org/"
|
|
},
|
|
"position": 537,
|
|
"strand": "-"
|
|
},
|
|
"effect": "Effect",
|
|
"reportedNumReads": 8
|
|
}
|
|
],
|
|
"rnaSeqs": []
|
|
}
|
|
}
|
|
],
|
|
"carePlans": [
|
|
{
|
|
"id": "75f515ff-44e9-44ef-8de4-20750f160322",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"reason": {
|
|
"id": "c1731d5e-6cca-4f8e-bca6-de233926106e",
|
|
"display": "Bösartige Neubildung: Zentraler Drüsenkörper der Brustdrüse",
|
|
"type": "MTBDiagnosis"
|
|
},
|
|
"issuedOn": "2025-06-24",
|
|
"geneticCounselingRecommendation": {
|
|
"id": "708baa95-c6de-4e1d-9e2c-f40dd1d14a32",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"issuedOn": "2025-06-24",
|
|
"reason": {
|
|
"code": "self-anamnesis",
|
|
"display": "Eigenanamnese",
|
|
"system": "dnpm-dip/mtb/recommendation/genetic-counseling/reason"
|
|
}
|
|
},
|
|
"medicationRecommendations": [
|
|
{
|
|
"id": "1db4d8d9-d6c0-48d1-b135-d040403654f9",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"reason": {
|
|
"id": "c1731d5e-6cca-4f8e-bca6-de233926106e",
|
|
"display": "Bösartige Neubildung: Zentraler Drüsenkörper der Brustdrüse",
|
|
"type": "MTBDiagnosis"
|
|
},
|
|
"issuedOn": "2025-06-24",
|
|
"priority": {
|
|
"code": "4",
|
|
"display": "4",
|
|
"system": "dnpm-dip/recommendation/priority"
|
|
},
|
|
"levelOfEvidence": {
|
|
"grading": {
|
|
"code": "m2B",
|
|
"display": "m2B",
|
|
"system": "dnpm-dip/mtb/level-of-evidence/grading"
|
|
},
|
|
"addendums": [
|
|
{
|
|
"code": "R",
|
|
"display": "R",
|
|
"system": "dnpm-dip/mtb/level-of-evidence/addendum"
|
|
}
|
|
],
|
|
"publications": [
|
|
{
|
|
"id": "1802087682",
|
|
"system": "https://pubmed.ncbi.nlm.nih.gov",
|
|
"type": "Publication"
|
|
}
|
|
]
|
|
},
|
|
"category": {
|
|
"code": "SO",
|
|
"display": "Sonstiges",
|
|
"system": "dnpm-dip/mtb/recommendation/systemic-therapy/category"
|
|
},
|
|
"medication": [
|
|
{
|
|
"code": "L01XX77",
|
|
"display": "Adagrasib",
|
|
"system": "http://fhir.de/CodeSystem/bfarm/atc",
|
|
"version": "2025"
|
|
}
|
|
],
|
|
"useType": {
|
|
"code": "sec-preventive",
|
|
"display": "Sec-preventive",
|
|
"system": "dnpm-dip/mtb/recommendation/systemic-therapy/use-type"
|
|
},
|
|
"supportingVariants": [
|
|
{
|
|
"variant": {
|
|
"id": "a9487572-a2a5-4074-ba8b-1e73cf92b378",
|
|
"type": "Variant"
|
|
},
|
|
"gene": {
|
|
"code": "HGNC:11998",
|
|
"display": "TP53",
|
|
"system": "https://www.genenames.org/"
|
|
}
|
|
}
|
|
]
|
|
}
|
|
],
|
|
"procedureRecommendations": [
|
|
{
|
|
"id": "1f5aebc0-2f32-4fdf-96e3-ba2309a580e3",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"reason": {
|
|
"id": "c1731d5e-6cca-4f8e-bca6-de233926106e",
|
|
"display": "Bösartige Neubildung: Zentraler Drüsenkörper der Brustdrüse",
|
|
"type": "MTBDiagnosis"
|
|
},
|
|
"issuedOn": "2025-06-24",
|
|
"priority": {
|
|
"code": "2",
|
|
"display": "2",
|
|
"system": "dnpm-dip/recommendation/priority"
|
|
},
|
|
"levelOfEvidence": {
|
|
"grading": {
|
|
"code": "undefined",
|
|
"display": "Nicht definiert",
|
|
"system": "dnpm-dip/mtb/level-of-evidence/grading"
|
|
},
|
|
"addendums": [
|
|
{
|
|
"code": "R",
|
|
"display": "R",
|
|
"system": "dnpm-dip/mtb/level-of-evidence/addendum"
|
|
}
|
|
],
|
|
"publications": [
|
|
{
|
|
"id": "519591396",
|
|
"system": "https://pubmed.ncbi.nlm.nih.gov",
|
|
"type": "Publication"
|
|
}
|
|
]
|
|
},
|
|
"code": {
|
|
"code": "AS",
|
|
"display": "Active Surveillance",
|
|
"system": "dnpm-dip/mtb/recommendation/procedure/category"
|
|
},
|
|
"supportingVariants": [
|
|
{
|
|
"variant": {
|
|
"id": "828dfee4-37e4-485a-8c6f-49f863903f3f",
|
|
"type": "Variant"
|
|
},
|
|
"gene": {
|
|
"code": "HGNC:886",
|
|
"display": "ATRX",
|
|
"system": "https://www.genenames.org/"
|
|
}
|
|
}
|
|
]
|
|
}
|
|
],
|
|
"studyEnrollmentRecommendations": [
|
|
{
|
|
"id": "590cd85f-24b9-435c-bb63-8a719dfa7c8e",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"reason": {
|
|
"id": "c1731d5e-6cca-4f8e-bca6-de233926106e",
|
|
"display": "Bösartige Neubildung: Zentraler Drüsenkörper der Brustdrüse",
|
|
"type": "MTBDiagnosis"
|
|
},
|
|
"issuedOn": "2025-06-24",
|
|
"levelOfEvidence": {
|
|
"grading": {
|
|
"code": "m2B",
|
|
"display": "m2B",
|
|
"system": "dnpm-dip/mtb/level-of-evidence/grading"
|
|
},
|
|
"addendums": [
|
|
{
|
|
"code": "R",
|
|
"display": "R",
|
|
"system": "dnpm-dip/mtb/level-of-evidence/addendum"
|
|
}
|
|
],
|
|
"publications": [
|
|
{
|
|
"id": "1802087682",
|
|
"system": "https://pubmed.ncbi.nlm.nih.gov",
|
|
"type": "Publication"
|
|
}
|
|
]
|
|
},
|
|
"priority": {
|
|
"code": "1",
|
|
"display": "1",
|
|
"system": "dnpm-dip/recommendation/priority"
|
|
},
|
|
"study": [
|
|
{
|
|
"id": "0509-104679-07-52",
|
|
"system": "Eudra-CT",
|
|
"type": "Study"
|
|
}
|
|
],
|
|
"supportingVariants": [
|
|
{
|
|
"variant": {
|
|
"id": "a9487572-a2a5-4074-ba8b-1e73cf92b378",
|
|
"type": "Variant"
|
|
},
|
|
"gene": {
|
|
"code": "HGNC:11998",
|
|
"display": "TP53",
|
|
"system": "https://www.genenames.org/"
|
|
}
|
|
}
|
|
]
|
|
}
|
|
],
|
|
"histologyReevaluationRequests": [
|
|
{
|
|
"id": "38f2133a-f1cf-4af6-b441-c21953e43ed3",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"specimen": {
|
|
"id": "c3f30fe7-d193-4cde-a3c2-ef8f2497df51",
|
|
"type": "TumorSpecimen"
|
|
},
|
|
"issuedOn": "2025-06-24"
|
|
}
|
|
],
|
|
"rebiopsyRequests": [
|
|
{
|
|
"id": "0860944d-ede1-453b-b7ea-b13ea0fb1d2f",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"tumorEntity": {
|
|
"id": "c1731d5e-6cca-4f8e-bca6-de233926106e",
|
|
"type": "MTBDiagnosis"
|
|
},
|
|
"issuedOn": "2025-06-24"
|
|
}
|
|
],
|
|
"notes": [
|
|
"Protocol of the MTB conference..."
|
|
]
|
|
}
|
|
],
|
|
"followUps": [
|
|
{
|
|
"date": "2025-06-03",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"lastContactDate": "2025-06-03"
|
|
}
|
|
],
|
|
"claims": [
|
|
{
|
|
"id": "5ec237d4-4857-475a-9931-0aa374a93634",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"recommendation": {
|
|
"id": "1db4d8d9-d6c0-48d1-b135-d040403654f9",
|
|
"type": "MTBMedicationRecommendation"
|
|
},
|
|
"issuedOn": "2025-06-24",
|
|
"stage": {
|
|
"code": "unknown",
|
|
"display": "Unbekannt",
|
|
"system": "dnpm-dip/mtb/claim/stage"
|
|
}
|
|
}
|
|
],
|
|
"claimResponses": [
|
|
{
|
|
"id": "fed8817e-708a-4230-a7e1-95594b67e5ce",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"claim": {
|
|
"id": "5ec237d4-4857-475a-9931-0aa374a93634",
|
|
"type": "Claim"
|
|
},
|
|
"issuedOn": "2025-06-24",
|
|
"status": {
|
|
"code": "accepted",
|
|
"display": "Angenommen",
|
|
"system": "dnpm-dip/mtb/claim-response/status"
|
|
}
|
|
}
|
|
],
|
|
"systemicTherapies": [
|
|
{
|
|
"history": [
|
|
{
|
|
"id": "0b2347b7-3b85-442d-aa46-e9c5c9ee7802",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"reason": {
|
|
"id": "c1731d5e-6cca-4f8e-bca6-de233926106e",
|
|
"display": "Bösartige Neubildung: Zentraler Drüsenkörper der Brustdrüse",
|
|
"type": "MTBDiagnosis"
|
|
},
|
|
"intent": {
|
|
"code": "P",
|
|
"display": "Palliativ",
|
|
"system": "dnpm-dip/therapy/intent"
|
|
},
|
|
"category": {
|
|
"code": "S",
|
|
"display": "Sonstiges",
|
|
"system": "dnpm-dip/therapy/category"
|
|
},
|
|
"basedOn": {
|
|
"id": "1db4d8d9-d6c0-48d1-b135-d040403654f9",
|
|
"type": "MTBMedicationRecommendation"
|
|
},
|
|
"recordedOn": "2025-06-24",
|
|
"status": {
|
|
"code": "stopped",
|
|
"display": "Abgebrochen",
|
|
"system": "dnpm-dip/therapy/status"
|
|
},
|
|
"statusReason": {
|
|
"code": "progression",
|
|
"display": "Progression",
|
|
"system": "dnpm-dip/therapy/status-reason"
|
|
},
|
|
"recommendationFulfillmentStatus": {
|
|
"code": "partial",
|
|
"display": "Partiell",
|
|
"system": "dnpm-dip/therapy/recommendation-fulfillment-status"
|
|
},
|
|
"dosage": {
|
|
"code": "under-50%",
|
|
"display": "< 50 %",
|
|
"system": "dnpm-dip/therapy/dosage-density"
|
|
},
|
|
"period": {
|
|
"start": "2025-03-18",
|
|
"end": "2025-06-24"
|
|
},
|
|
"medication": [
|
|
{
|
|
"code": "L01XX77",
|
|
"display": "Adagrasib",
|
|
"system": "http://fhir.de/CodeSystem/bfarm/atc",
|
|
"version": "2025"
|
|
}
|
|
],
|
|
"notes": [
|
|
"Notes on the therapy..."
|
|
]
|
|
}
|
|
]
|
|
}
|
|
],
|
|
"responses": [
|
|
{
|
|
"id": "70c6b774-ca26-4837-b424-5fc37e9a1548",
|
|
"patient": {
|
|
"id": "aca5a971-28be-4089-8128-0036a4fe6f1a",
|
|
"type": "Patient"
|
|
},
|
|
"therapy": {
|
|
"id": "0b2347b7-3b85-442d-aa46-e9c5c9ee7802",
|
|
"type": "MTBSystemicTherapy"
|
|
},
|
|
"effectiveDate": "2025-06-03",
|
|
"method": {
|
|
"code": "RANO",
|
|
"display": "Nach RANO-Kriterien",
|
|
"system": "dnpm-dip/mtb/response/method"
|
|
},
|
|
"value": {
|
|
"code": "SD",
|
|
"display": "Stable Disease",
|
|
"system": "RECIST"
|
|
}
|
|
}
|
|
]
|
|
}
|