diff --git a/rare-disease/annotation/grch38_svdb_query_dbs_-v1.1-.csv b/rare-disease/annotation/grch38_svdb_query_dbs_-v1.1-.csv new file mode 100644 index 0000000..84f3499 --- /dev/null +++ b/rare-disease/annotation/grch38_svdb_query_dbs_-v1.1-.csv @@ -0,0 +1,5 @@ +filename,in_freq_info_key,in_allele_count_info_key,out_freq_info_key,out_allele_count_info_key +/home/proj/production/workflows/raredisease/references/gms_rd_3.0/grch38_svdb_query_decipher_Sept2015.vcf,FRQ,OCC,decipherAF,decipherOCC +/home/proj/production/workflows/raredisease/references/gms_rd_3.0/grch38_gnomad.v4.1.sv.sites.no_cnv.vcf.gz,AF,AC,gnomad_svAF,gnomad_svAC +/home/proj/production/workflows/raredisease/references/gms_rd_3.0/grch38_swegen_svdb_concat_sort_-20200608-.vcf,FRQ,OCC,swegenAF,swegenOCC +/home/proj/production/workflows/raredisease/references/gms_rd_3.0/grch38_loqusdb_sv_variants_export-sorted-20260727-.vcf.gz,Frq,Obs,clinical_genomics_loqusFrq,clinical_genomics_loqusObs diff --git a/rare-disease/annotation/grch38_vcfanno_config_-v0.5-.toml b/rare-disease/annotation/grch38_vcfanno_config_-v0.5-.toml new file mode 100644 index 0000000..de0f864 --- /dev/null +++ b/rare-disease/annotation/grch38_vcfanno_config_-v0.5-.toml @@ -0,0 +1,52 @@ +# TOML + +title = "Vcfanno configuration file" + +[[annotation]] +file="grch38_loqusdb_snv_indel_variants_export-20260727-.vcf.gz" +fields = ["Frq", "Obs", "Hom"] +ops=["self", "self", "self"] +names=["Frq", "Obs", "Hom"] + +[[annotation]] +file="grch38_gnomad_reformatted_merged_r4.1-.vcf.gz" +fields = ["AF", "AF_grpmax"] +ops=["self", "self"] +names=["GNOMADAF", "GNOMADAF_grpmax"] + +[[annotation]] +file="grch38_swegen_frequencies_fixploidy_-20190204-.vcf.gz" +fields = ["AF", "AC_Hom", "AC_Het", "AC_Hemi"] +ops=["self", "self", "self", "self"] +names=["SWEGENAF", "SWEGENAAC_Hom", "SWEGENAAC_Het", "SWEGENAAC_Hemi"] + +[[annotation]] +file="grch38_genbank_haplogroup_-2015-08-01-.vcf.gz" +fields = ["MTAF"] +ops=["self"] +names=["MTAF"] +skip_normalize = true + +[[annotation]] +file="grch38_gnomad_genomes_mt_-r3.1-.vcf.gz" +fields = ["AF_hom", "AF_het", "mitotip_score", "mitotip_trna_prediction"] +ops=["self", "self", "self", "self"] +names=["GNOMAD_MTAF_hom", "GNOMAD_MTAF_het", "mitotip_score", "mitotip_trna_prediction"] + +[[annotation]] +file="grch38_cadd_whole_genome_snvs_-v1.7_chr.tsv.gz" +names=["CADD"] +ops=["mean"] +columns=[6] + +[[annotation]] +file="managed_variants.vcf.gz" +fields=["TYPE"] +ops=["flag"] +names=["CRITICAL_VARIANT"] + +[[annotation]] +file="managed_variants_hg38_liftedoverfrom37.vcf.gz" +fields=["TYPE"] +ops=["flag"] +names=["CRITICAL_VARIANT_LIFTOVER37"] diff --git a/rare-disease/annotation/grch38_vcfanno_resources_-v1.1-.txt b/rare-disease/annotation/grch38_vcfanno_resources_-v1.1-.txt new file mode 100644 index 0000000..c83f431 --- /dev/null +++ b/rare-disease/annotation/grch38_vcfanno_resources_-v1.1-.txt @@ -0,0 +1,18 @@ +/home/proj/production/workflows/raredisease/references/gms_rd_3.0/grch38_cadd_whole_genome_snvs_-v1.7_chr.tsv.gz +/home/proj/production/workflows/raredisease/references/gms_rd_3.0/grch38_cadd_whole_genome_snvs_-v1.7_chr.tsv.gz.tbi +/home/proj/production/workflows/raredisease/references/gms_rd_3.0/grch38_genbank_haplogroup_-2015-08-01-.vcf.gz +/home/proj/production/workflows/raredisease/references/gms_rd_3.0/grch38_genbank_haplogroup_-2015-08-01-.vcf.gz.tbi +/home/proj/production/workflows/raredisease/references/gms_rd_3.0/gnomad/grch38_gnomad_genomes_mt_-r3.1-.vcf.gz +/home/proj/production/workflows/raredisease/references/gms_rd_3.0/gnomad/grch38_gnomad_genomes_mt_-r3.1-.vcf.gz.tbi +/home/proj/production/workflows/raredisease/references/gms_rd_3.0/gnomad/grch38_gnomad_reformatted_merged_r4.1-.vcf.gz +/home/proj/production/workflows/raredisease/references/gms_rd_3.0/gnomad/grch38_gnomad_reformatted_merged_r4.1-.vcf.gz.tbi +/home/proj/production/workflows/raredisease/references/gms_rd_3.0/grch38_swegen_frequencies_fixploidy_-20190204-.vcf.gz +/home/proj/production/workflows/raredisease/references/gms_rd_3.0/grch38_swegen_frequencies_fixploidy_-20190204-.vcf.gz.tbi +/home/proj/production/workflows/raredisease/references/gms_rd_3.0/scout_causatives_liftover38_sorted.vcf.gz +/home/proj/production/workflows/raredisease/references/gms_rd_3.0/scout_causatives_liftover38_sorted.vcf.gz.tbi +/home/proj/production/workflows/raredisease/references/gms_rd_3.0/mutacc_20251212_causative_variants_hg38_sorted.vcf.gz +/home/proj/production/workflows/raredisease/references/gms_rd_3.0/mutacc_20251212_causative_variants_hg38_sorted.vcf.gz.tbi +/home/proj/production/workflows/raredisease/references/gms_rd_3.0/managed_variants_hg38_liftedoverfrom37.vcf.gz +/home/proj/production/workflows/raredisease/references/gms_rd_3.0/managed_variants_hg38_liftedoverfrom37.vcf.gz.tbi +/home/proj/production/workflows/raredisease/references/gms_rd_3.0/grch38_loqusdb_snv_indel_variants_export-20260727-.vcf.gz +/home/proj/production/workflows/raredisease/references/gms_rd_3.0/grch38_loqusdb_snv_indel_variants_export-20260727-.vcf.gz.tbi diff --git a/rare-disease/annotation/grch38_vep110_resources_-v1.1-.csv b/rare-disease/annotation/grch38_vep110_resources_-v1.1-.csv new file mode 100644 index 0000000..d9c9b2b --- /dev/null +++ b/rare-disease/annotation/grch38_vep110_resources_-v1.1-.csv @@ -0,0 +1,14 @@ +vep_files +/home/proj/production/workflows/raredisease/references/gms_rd_3.0/grch38_gnomad_pli_per_gene_-r4.1-.txt +/home/proj/production/workflows/raredisease/references/gms_rd_3.0/grch38_clinvar_reformatted_20260720-.vcf.gz +/home/proj/production/workflows/raredisease/references/gms_rd_3.0/grch38_clinvar_reformatted_20260720-.vcf.gz.tbi +/home/proj/production/workflows/raredisease/references/gms_rd_3.0/grch38_dbNSFP4.5a.gz +/home/proj/production/workflows/raredisease/references/gms_rd_3.0/grch38_dbNSFP4.5a.gz.tbi +/home/proj/production/workflows/raredisease/references/gms_rd_3.0/grch38_genomic_superdups_reformated_20141019-.bed.gz +/home/proj/production/workflows/raredisease/references/gms_rd_3.0/grch38_genomic_superdups_reformated_20141019-.bed.gz.tbi +/home/proj/production/workflows/raredisease/references/gms_rd_3.0/grch38_spliceai_scores.raw.indel.hg38.v1.3.vcf.gz +/home/proj/production/workflows/raredisease/references/gms_rd_3.0/grch38_spliceai_scores.raw.indel.hg38.v1.3.vcf.gz.tbi +/home/proj/production/workflows/raredisease/references/gms_rd_3.0/grch38_spliceai_scores.raw.snv.hg38.v1.3.vcf.gz +/home/proj/production/workflows/raredisease/references/gms_rd_3.0/grch38_spliceai_scores.raw.snv.hg38.v1.3.vcf.gz.tbi +/home/proj/production/workflows/raredisease/references/gms_rd_3.0/ensembl-tools-release-110/cache/Plugins/LoFtool_scores.txts/LoFtool_scores.txt +/home/proj/production/workflows/raredisease/references/gms_rd_3.0/ensembl-tools-release-110/cache/Plugins/fordownload