gnomad_hgdp_1kg_subset_variant_annotations

  • Versions: 3.1.2

  • Reference genome builds: GRCh38

  • Type: hail.Table

Schema (3.1.2, GRCh38)

----------------------------------------
Global fields:
    'global_annotation_descriptions': struct {
        hgdp_tgp_freq_meta: struct {
            Description: str
        },
        gnomad_freq_meta: struct {
            Description: str
        },
        hgdp_tgp_freq_index_dict: struct {
            Description: str
        },
        gnomad_freq_index_dict: struct {
            Description: str
        },
        gnomad_faf_meta: struct {
            Description: str
        },
        gnomad_faf_index_dict: struct {
            Description: str
        },
        variant_filtering_model: struct {
            Description: set<str>,
            sub_globals: struct {
                model_name: struct {
                    Description: str
                },
                score_name: struct {
                    Description: str
                },
                snv_cutoff: struct {
                    Description: str,
                    sub_globals: struct {
                        bin: struct {
                            Description: str
                        },
                        min_score: struct {
                            Description: str
                        }
                    }
                },
                indel_cutoff: struct {
                    Description: str,
                    sub_globals: struct {
                        bin: struct {
                            Description: str
                        },
                        min_score: struct {
                            Description: str
                        }
                    }
                },
                snv_training_variables: struct {
                    Description: str
                },
                indel_training_variables: struct {
                    Description: str
                }
            }
        },
        variant_inbreeding_coeff_cutoff: struct {
            Description: str
        },
        vep_version: struct {
            Description: str
        },
        vep_csq_header: struct {
            Description: str
        },
        dbsnp_version: struct {
            Description: str
        }
    }
    'variant_annotation_descriptions': struct {
        locus: struct {
            Description: str
        },
        alleles: struct {
            Description: str
        },
        rsid: struct {
            Description: str
        },
        a_index: struct {
            Description: str
        },
        was_split: struct {
            Description: str
        },
        hgdp_tgp_freq: struct {
            Description: str,
            sub_annotations: struct {
                AC: struct {
                    Description: str
                },
                AF: struct {
                    Description: str
                },
                AN: struct {
                    Description: str
                },
                homozygote_count: struct {
                    Description: str
                }
            }
        },
        gnomad_freq: struct {
            Description: str,
            sub_annotations: struct {
                AC: struct {
                    Description: str
                },
                AF: struct {
                    Description: str
                },
                AN: struct {
                    Description: str
                },
                homozygote_count: struct {
                    Description: str
                }
            }
        },
        gnomad_popmax: struct {
            Description: str,
            sub_annotations: struct {
                AC: struct {
                    Description: str
                },
                AF: struct {
                    Description: str
                },
                AN: struct {
                    Description: str
                },
                homozygote_count: struct {
                    Description: str
                },
                pop: struct {
                    Description: str
                },
                faf95: struct {
                    Description: str
                }
            }
        },
        gnomad_faf: struct {
            Description: str,
            sub_annotations: struct {
                faf95: struct {
                    Description: str
                },
                faf99: struct {
                    Description: str
                }
            }
        },
        gnomad_qual_hists: struct {
            Description: str,
            sub_annotations: struct {
                gq_hist_all: struct {
                    Description: str,
                    sub_annotations: struct {
                        bin_edges: struct {
                            Description: str
                        },
                        bin_freq: struct {
                            Description: str
                        },
                        n_smaller: struct {
                            Description: str
                        },
                        n_larger: struct {
                            Description: str
                        }
                    }
                },
                dp_hist_all: struct {
                    Description: str,
                    sub_annotations: struct {
                        bin_edges: struct {
                            Description: str
                        },
                        bin_freq: struct {
                            Description: str
                        },
                        n_smaller: struct {
                            Description: str
                        },
                        n_larger: struct {
                            Description: str
                        }
                    }
                },
                gq_hist_alt: struct {
                    Description: str,
                    sub_annotations: struct {
                        bin_edges: struct {
                            Description: str
                        },
                        bin_freq: struct {
                            Description: str
                        },
                        n_smaller: struct {
                            Description: str
                        },
                        n_larger: struct {
                            Description: str
                        }
                    }
                },
                dp_hist_alt: struct {
                    Description: str,
                    sub_annotations: struct {
                        bin_edges: struct {
                            Description: str
                        },
                        bin_freq: struct {
                            Description: str
                        },
                        n_smaller: struct {
                            Description: str
                        },
                        n_larger: struct {
                            Description: str
                        }
                    }
                },
                ab_hist_alt: struct {
                    Description: str,
                    sub_annotations: struct {
                        bin_edges: struct {
                            Description: str
                        },
                        bin_freq: struct {
                            Description: str
                        },
                        n_smaller: struct {
                            Description: str
                        },
                        n_larger: struct {
                            Description: str
                        }
                    }
                }
            }
        },
        gnomad_raw_qual_hists: struct {
            Description: str,
            sub_annotations: struct {
                gq_hist_all: struct {
                    Description: str,
                    sub_annotations: struct {
                        bin_edges: struct {
                            Description: str
                        },
                        bin_freq: struct {
                            Description: str
                        },
                        n_smaller: struct {
                            Description: str
                        },
                        n_larger: struct {
                            Description: str
                        }
                    }
                },
                dp_hist_all: struct {
                    Description: str,
                    sub_annotations: struct {
                        bin_edges: struct {
                            Description: str
                        },
                        bin_freq: struct {
                            Description: str
                        },
                        n_smaller: struct {
                            Description: str
                        },
                        n_larger: struct {
                            Description: str
                        }
                    }
                },
                gq_hist_alt: struct {
                    Description: str,
                    sub_annotations: struct {
                        bin_edges: struct {
                            Description: str
                        },
                        bin_freq: struct {
                            Description: str
                        },
                        n_smaller: struct {
                            Description: str
                        },
                        n_larger: struct {
                            Description: str
                        }
                    }
                },
                dp_hist_alt: struct {
                    Description: str,
                    sub_annotations: struct {
                        bin_edges: struct {
                            Description: str
                        },
                        bin_freq: struct {
                            Description: str
                        },
                        n_smaller: struct {
                            Description: str
                        },
                        n_larger: struct {
                            Description: str
                        }
                    }
                },
                ab_hist_alt: struct {
                    Description: str,
                    sub_annotations: struct {
                        bin_edges: struct {
                            Description: str
                        },
                        bin_freq: struct {
                            Description: str
                        },
                        n_smaller: struct {
                            Description: str
                        },
                        n_larger: struct {
                            Description: str
                        }
                    }
                }
            }
        },
        gnomad_age_hist_het: struct {
            Description: str,
            sub_annotations: struct {
                bin_edges: struct {
                    Description: str
                },
                bin_freq: struct {
                    Description: str
                },
                n_smaller: struct {
                    Description: str
                },
                n_larger: struct {
                    Description: str
                }
            }
        },
        gnomad_age_hist_hom: struct {
            Description: str,
            sub_annotations: struct {
                bin_edges: struct {
                    Description: str
                },
                bin_freq: struct {
                    Description: str
                },
                n_smaller: struct {
                    Description: str
                },
                n_larger: struct {
                    Description: str
                }
            }
        },
        filters: struct {
            Description: str
        },
        info: struct {
            Description: str,
            sub_annotations: struct {
                QUALapprox: struct {
                    Description: str
                },
                SB: struct {
                    Description: str
                },
                MQ: struct {
                    Description: str
                },
                MQRankSum: struct {
                    Description: str
                },
                VarDP: struct {
                    Description: str
                },
                AS_ReadPosRankSum: struct {
                    Description: str
                },
                AS_pab_max: struct {
                    Description: str
                },
                AS_QD: struct {
                    Description: str
                },
                AS_MQ: struct {
                    Description: str
                },
                QD: struct {
                    Description: str
                },
                AS_MQRankSum: struct {
                    Description: str
                },
                FS: struct {
                    Description: str
                },
                AS_FS: struct {
                    Description: str
                },
                ReadPosRankSum: struct {
                    Description: str
                },
                AS_QUALapprox: struct {
                    Description: str
                },
                AS_SB_TABLE: struct {
                    Description: str
                },
                AS_VarDP: struct {
                    Description: str
                },
                AS_SOR: struct {
                    Description: str
                },
                SOR: struct {
                    Description: str
                },
                transmitted_singleton: struct {
                    Description: str
                },
                omni: struct {
                    Description: str
                },
                mills: struct {
                    Description: str
                },
                monoallelic: struct {
                    Description: str
                },
                InbreedingCoeff: struct {
                    Description: str
                }
            }
        },
        vep: struct {
            Description: str
        },
        vqsr: struct {
            Description: str,
            sub_annotations: struct {
                AS_VQSLOD: struct {
                    Description: str
                },
                AS_culprit: struct {
                    Description: str
                },
                NEGATIVE_TRAIN_SITE: struct {
                    Description: str
                },
                POSITIVE_TRAIN_SITE: struct {
                    Description: str
                }
            }
        },
        region_flag: struct {
            Description: str,
            sub_annotations: struct {
                lcr: struct {
                    Description: str
                },
                segdup: struct {
                    Description: str
                }
            }
        },
        allele_info: struct {
            Description: str,
            sub_annotations: struct {
                variant_type: struct {
                    Description: str
                },
                allele_type: struct {
                    Description: str
                },
                n_alt_alleles: struct {
                    Description: str
                }
            }
        },
        was_mixed: struct {
            Description: str
        },
        cadd: struct {
            sub_annotations: struct {
                raw_score: struct {
                    Description: str
                },
                phred: struct {
                    Description: str
                },
                has_duplicate: struct {
                    Description: str
                }
            }
        },
        revel: struct {
            Description: str,
            sub_annotations: struct {
                revel_score: struct {
                    Description: str
                },
                has_duplicate: struct {
                    Description: str
                }
            }
        },
        splice_ai: struct {
            sub_annotations: struct {
                splice_ai: struct {
                    Description: str
                },
                splice_consequence: struct {
                    Description: str
                },
                has_duplicate: struct {
                    Description: str
                }
            }
        },
        primate_ai: struct {
            sub_annotations: struct {
                primate_ai_score: struct {
                    Description: str
                },
                has_duplicate: struct {
                    Description: str
                }
            }
        },
        AS_lowqual: struct {
            Description: str
        },
        telomere_or_centromere: struct {
            Description: str
        }
    }
    'hgdp_tgp_freq_meta': array<dict<str, str>>
    'hgdp_tgp_freq_index_dict': dict<str, int32>
    'gnomad_freq_meta': array<dict<str, str>>
    'gnomad_freq_index_dict': dict<str, int32>
    'gnomad_faf_index_dict': dict<str, int32>
    'gnomad_faf_meta': array<dict<str, str>>
    'vep_version': str
    'vep_csq_header': str
    'dbsnp_version': str
    'variant_filtering_model': struct {
        model_name: str,
        score_name: str,
        snv_cutoff: struct {
            bin: float64,
            min_score: float64
        },
        indel_cutoff: struct {
            bin: float64,
            min_score: float64
        },
        snv_training_variables: array<str>,
        indel_training_variables: array<str>
    }
    'variant_inbreeding_coeff_cutoff': float64
----------------------------------------
Row fields:
    'locus': locus<GRCh38>
    'alleles': array<str>
    'a_index': int32
    'was_split': bool
    'rsid': set<str>
    'filters': set<str>
    'info': struct {
        SB: array<int32>,
        MQRankSum: float64,
        VarDP: int32,
        AS_FS: float64,
        AS_ReadPosRankSum: float64,
        AS_pab_max: float64,
        AS_QD: float32,
        AS_MQ: float64,
        AS_QUALapprox: int64,
        QD: float32,
        AS_MQRankSum: float64,
        FS: float64,
        MQ: float64,
        ReadPosRankSum: float64,
        QUALapprox: int64,
        AS_SB_TABLE: array<int32>,
        AS_VarDP: int32,
        AS_SOR: float64,
        SOR: float64,
        transmitted_singleton: bool,
        omni: bool,
        mills: bool,
        monoallelic: bool,
        InbreedingCoeff: float32,
        AS_VQSLOD: float64
    }
    'vep': struct {
        assembly_name: str,
        allele_string: str,
        ancestral: str,
        context: str,
        end: int32,
        id: str,
        input: str,
        intergenic_consequences: array<struct {
            allele_num: int32,
            consequence_terms: array<str>,
            impact: str,
            minimised: int32,
            variant_allele: str
        }>,
        most_severe_consequence: str,
        motif_feature_consequences: array<struct {
            allele_num: int32,
            consequence_terms: array<str>,
            high_inf_pos: str,
            impact: str,
            minimised: int32,
            motif_feature_id: str,
            motif_name: str,
            motif_pos: int32,
            motif_score_change: float64,
            strand: int32,
            variant_allele: str
        }>,
        regulatory_feature_consequences: array<struct {
            allele_num: int32,
            biotype: str,
            consequence_terms: array<str>,
            impact: str,
            minimised: int32,
            regulatory_feature_id: str,
            variant_allele: str
        }>,
        seq_region_name: str,
        start: int32,
        strand: int32,
        transcript_consequences: array<struct {
            allele_num: int32,
            amino_acids: str,
            appris: str,
            biotype: str,
            canonical: int32,
            ccds: str,
            cdna_start: int32,
            cdna_end: int32,
            cds_end: int32,
            cds_start: int32,
            codons: str,
            consequence_terms: array<str>,
            distance: int32,
            domains: array<struct {
                db: str,
                name: str
            }>,
            exon: str,
            gene_id: str,
            gene_pheno: int32,
            gene_symbol: str,
            gene_symbol_source: str,
            hgnc_id: str,
            hgvsc: str,
            hgvsp: str,
            hgvs_offset: int32,
            impact: str,
            intron: str,
            lof: str,
            lof_flags: str,
            lof_filter: str,
            lof_info: str,
            minimised: int32,
            polyphen_prediction: str,
            polyphen_score: float64,
            protein_end: int32,
            protein_start: int32,
            protein_id: str,
            sift_prediction: str,
            sift_score: float64,
            strand: int32,
            swissprot: str,
            transcript_id: str,
            trembl: str,
            tsl: int32,
            uniparc: str,
            variant_allele: str
        }>,
        variant_class: str
    }
    'vqsr': struct {
        AS_VQSLOD: float64,
        AS_culprit: str,
        NEGATIVE_TRAIN_SITE: bool,
        POSITIVE_TRAIN_SITE: bool
    }
    'region_flag': struct {
        lcr: bool,
        segdup: bool
    }
    'allele_info': struct {
        variant_type: str,
        allele_type: str,
        n_alt_alleles: int32,
        was_mixed: bool
    }
    'hgdp_tgp_freq': array<struct {
        AC: int32,
        AF: float64,
        AN: int32,
        homozygote_count: int32
    }>
    'gnomad_freq': array<struct {
        AC: int32,
        AF: float64,
        AN: int32,
        homozygote_count: int32
    }>
    'gnomad_popmax': struct {
        AC: int32,
        AF: float64,
        AN: int32,
        homozygote_count: int32,
        pop: str,
        faf95: float64
    }
    'gnomad_faf': array<struct {
        faf95: float64,
        faf99: float64
    }>
    'gnomad_raw_qual_hists': struct {
        gq_hist_all: struct {
            bin_edges: array<float64>,
            bin_freq: array<int64>,
            n_smaller: int64,
            n_larger: int64
        },
        dp_hist_all: struct {
            bin_edges: array<float64>,
            bin_freq: array<int64>,
            n_smaller: int64,
            n_larger: int64
        },
        gq_hist_alt: struct {
            bin_edges: array<float64>,
            bin_freq: array<int64>,
            n_smaller: int64,
            n_larger: int64
        },
        dp_hist_alt: struct {
            bin_edges: array<float64>,
            bin_freq: array<int64>,
            n_smaller: int64,
            n_larger: int64
        },
        ab_hist_alt: struct {
            bin_edges: array<float64>,
            bin_freq: array<int64>,
            n_smaller: int64,
            n_larger: int64
        }
    }
    'gnomad_qual_hists': struct {
        gq_hist_all: struct {
            bin_edges: array<float64>,
            bin_freq: array<int64>,
            n_smaller: int64,
            n_larger: int64
        },
        dp_hist_all: struct {
            bin_edges: array<float64>,
            bin_freq: array<int64>,
            n_smaller: int64,
            n_larger: int64
        },
        gq_hist_alt: struct {
            bin_edges: array<float64>,
            bin_freq: array<int64>,
            n_smaller: int64,
            n_larger: int64
        },
        dp_hist_alt: struct {
            bin_edges: array<float64>,
            bin_freq: array<int64>,
            n_smaller: int64,
            n_larger: int64
        },
        ab_hist_alt: struct {
            bin_edges: array<float64>,
            bin_freq: array<int64>,
            n_smaller: int64,
            n_larger: int64
        }
    }
    'gnomad_age_hist_het': struct {
        bin_edges: array<float64>,
        bin_freq: array<int64>,
        n_smaller: int64,
        n_larger: int64
    }
    'gnomad_age_hist_hom': struct {
        bin_edges: array<float64>,
        bin_freq: array<int64>,
        n_smaller: int64,
        n_larger: int64
    }
    'cadd': struct {
        phred: float32,
        raw_score: float32,
        has_duplicate: bool
    }
    'revel': struct {
        revel_score: float64,
        has_duplicate: bool
    }
    'splice_ai': struct {
        splice_ai_score: float32,
        splice_consequence: str,
        has_duplicate: bool
    }
    'primate_ai': struct {
        primate_ai_score: float32,
        has_duplicate: bool
    }
    'AS_lowqual': bool
    'telomere_or_centromere': bool
----------------------------------------
Key: ['locus', 'alleles']
----------------------------------------