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- {
- "consequences": [
- 12166,
- {
- "intergenic_variant": 5591,
- "splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant": 2,
- "splice_region_variant,non_coding_transcript_exon_variant": 4,
- "splice_donor_variant,non_coding_transcript_variant": 2,
- "5_prime_UTR_variant": 5,
- "intron_variant,non_coding_transcript_variant": 1341,
- "feature_elongation,intron_variant": 3,
- "synonymous_variant": 32,
- "intron_variant": 3613,
- "inframe_insertion": 2,
- "missense_variant": 29,
- "splice_donor_5th_base_variant,intron_variant,non_coding_transcript_variant": 2,
- "frameshift_variant": 3,
- "stop_gained": 2,
- "splice_polypyrimidine_tract_variant,intron_variant": 6,
- "3_prime_UTR_variant": 75,
- "splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant": 5,
- "missense_variant,splice_region_variant": 2,
- "downstream_gene_variant": 686,
- "non_coding_transcript_exon_variant": 79,
- "upstream_gene_variant": 699,
- "splice_acceptor_variant": 2,
- "feature_elongation,intron_variant,non_coding_transcript_variant": 2,
- "splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant": 2,
- "transcript_ablation": 2
- }
- ],
- "ncbi_features": [
- 598,
- {
- "repeat_instability_region": 8,
- "biological_region": 287,
- "mitotic_recombination_region": 5,
- "meiotic_recombination_region": 14,
- "mobile_genetic_element": 2,
- "silencer": 10,
- "matrix_attachment_site": 2,
- "DNaseI_hypersensitive_site": 4,
- "protein_binding_site": 2,
- "promoter": 2,
- "minisatellite": 5,
- "antisense_RNA": 5,
- "enhancer": 264,
- "non_allelic_homologous_recombination_region": 2
- }
- ],
- "callers_cat": [
- 12166,
- {
- "Nanomonsv": 16,
- "ClairS": 420,
- "Sniffles": 148,
- "ClairS,DeepVariant": 3184,
- "DeepVariant": 8403
- }
- ],
- "cosmic_sup_1": 13,
- "n_total": 7964323,
- "n_constit": 3504804,
- "n_tumoral": 4458549,
- "n_constit_first": 2329315,
- "n_loh_first": 3474,
- "n_low_mrd_depth_first": 1070325,
- "n_constit_sec": 128065,
- "n_low_diversity_sec": 183528,
- "n_low_mrd_depth_sec": 718656,
- "n_somatic_sec": 24331
- }
|