/
firstUserAnnotation.json
120 lines (120 loc) · 3.04 KB
/
firstUserAnnotation.json
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{
"small_variants": [
{
"case_name": "First Case",
"release": "GRCh37",
"chromosome": "17",
"start": 41201211,
"stop": 41201211,
"reference": "T",
"alternative": "G",
"chromosome_no": 17,
"genotype": {
"index": {
"gt": "0/1"
}
},
"refseq_gene_id": "672",
"refseq_gene_symbol": "BRCA1",
"refseq_transcript_id": "NM_007294.4",
"refseq_transcript_coding": true,
"refseq_hgvs_c": "c.5120A>G",
"refseq_hgvs_p": "p.Asp1778Gly",
"refseq_effect": ["missense_variant"],
"refseq_exon_dist": 0,
"ensembl_gene_id": "ENSG00000012048",
"ensembl_gene_symbol": "BRCA1",
"ensembl_transcript_id": "ENSTetcetctec",
"ensembl_transcript_coding": true,
"ensembl_hgvs_c": "c.5120A>G",
"ensembl_hgvs_p": "p.Asp1778Gly",
"ensembl_effect": ["missense_variant"],
"ensembl_exon_dist": 0
}
],
"small_variant_flags": [
{
"sodar_uuid": "smvarflg-1111-1111-1111-111111111111",
"date_created": "2020-11-09 13:37",
"date_modified": "2020-11-09 13:37",
"case_name": "First Case",
"release": "GRCh37",
"chromosome": "17",
"start": 41201211,
"stop": 41201211,
"reference": "T",
"alternative": "G",
"flag_bookmarked": true,
"flag_candidate": false,
"flag_final_causative": false,
"flag_for_validation": false,
"flag_no_disease_association": false,
"flag_segregates": false,
"flag_doesnt_segregate": false,
"flag_visual": "empty",
"flag_molecular": "empty",
"flag_validation": "empty",
"flag_phenotype_match": "empty",
"flag_summary": "empty"
}
],
"small_variant_comments": [
{
"sodar_uuid": "smvcomme-1111-1111-1111-111111111111",
"date_created": "2020-11-09 13:37",
"date_modified": "2020-11-09 13:37",
"release": "GRCh37",
"chromosome": "17",
"start": 41201211,
"stop": 41201211,
"reference": "T",
"alternative": "G",
"user": "bbbbbbbb-bbbb-bbbb-bbbb-bbbbbbbbbbbb",
"text": "First comment text",
"case_name": "First Case"
}
],
"acmg_criteria_rating": [
{
"sodar_uuid": "acmgrati-1111-1111-1111-111111111111",
"date_created": "2020-11-09 13:37",
"date_modified": "2020-11-09 13:37",
"release": "GRCh37",
"chromosome": "17",
"start": 41201211,
"stop": 41201211,
"reference": "T",
"alternative": "G",
"case_name": "First Case",
"user": "bbbbbbbb-bbbb-bbbb-bbbb-bbbbbbbbbbbb",
"pvs1": 1,
"ps1": 0,
"ps2": 0,
"ps3": 0,
"ps4": 0,
"pm1": 0,
"pm2": 0,
"pm3": 0,
"pm4": 0,
"pm5": 0,
"pm6": 0,
"pp1": 0,
"pp2": 0,
"pp3": 0,
"pp4": 0,
"pp5": 0,
"ba1": 0,
"bs2": 0,
"bs3": 0,
"bs4": 0,
"bp1": 0,
"bp2": 0,
"bp3": 0,
"bp4": 0,
"bp6": 0,
"bp7": 0,
"class_auto": 4,
"class_override": 5
}
]
}