// Protocol buffers for representing gnomAD-CNV v4 data. syntax = "proto3"; package annonars.gnomad.gnomad_cnv4; import "annonars/gnomad/exac_cnv.proto"; // Carrier counts message CarrierCounts { // Number of releaseable samples with a variant at this site. int32 sc = 1; // Proportion of releaseable samples (site frequency) with a variant at // this site. float sf = 2; // Total number of releaseable samples considered at this site. int32 sn = 3; } // Store the carrier counts for the given sub cohort and sub cohort factored by sex. message CarrierCountsBySex { // Overall carrier counts in the sub cohort. CarrierCounts overall = 1; // Carrier counts in female/XX karyotype individuals of sub cohort. optional CarrierCounts xx = 2; // Carrier counts in male/XY karyotype individuals of sub cohort. optional CarrierCounts xy = 3; } // ExAC population. enum Population { // unknown POPULATION_UNKNOWN = 0; // African POPULATION_AFR = 1; // Ad Mixed American POPULATION_AMR = 2; // Ashkenazi Jewish POPULATION_ASJ = 3; // East Asian POPULATION_EAS = 4; // Finnish POPULATION_FIN = 5; // Middle Eastern POPULATION_MID = 6; // Non-Finnish European POPULATION_NFE = 7; // South Asian POPULATION_SAS = 8; } // Store the carrier counts for a population. message PopulationCarrierCounts { // The population. Population population = 1; // The overall allele counts and the one by sex. CarrierCountsBySex counts = 2; } // Store the allele counts for the given cohort. message CohortCarrierCounts { // Name of the cohort, empty for global. optional string cohort = 1; // The overall carrier counts and the one by sex. CarrierCountsBySex by_sex = 2; // Carrier counts for each population. repeated PopulationCarrierCounts by_population = 3; } // One record in the gnomAD-CNV v4 dataset. message Record { // Chromosome name. string chrom = 1; // 1-based start position. int32 start = 2; // 1-based stop position. int32 stop = 3; // 1-based inner start position. int32 inner_start = 4; // 1-based inner stop position. int32 inner_stop = 5; // 1-based outer start position. int32 outer_start = 6; // 1-based inner stop position. int32 outer_stop = 7; // Unique identifier for the variant. string id = 8; // Length of the SV. int32 sv_len = 9; // The type of the variant. annonars.gnomad.exac_cnv.CnvType sv_type = 10; // Median number of callable exons spanned by variant passing QS // threshold. int32 n_exn_var = 11; // Median number of callable intervals spanned by variant passing // QS threshold. int32 n_int_var = 12; // Symbols of genes predicted to be impacted by variant repeated string genes = 13; // Carrier counts in the different population. // // The populations in gnomAD CNV v4 are: empty for global, "non_neuro", // and "non_neuro_coontrols". repeated CohortCarrierCounts carrier_counts = 14; }