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Sign up| title = "ANNOVAR download configuration file" | |
| [db_ucsc_refgene] | |
| source_url = "http://hgdownload.cse.ucsc.edu/goldenPath/{{buildver}}/database/refGene.txt.gz" | |
| version_newest = "refgene" | |
| version_available = ["refgene"] | |
| buildver_available = ["hg38", "hg19", "hg18"] | |
| description = "UCSC goldenPath/{{buildver}}/database/refGene.txt.gz" | |
| after_success = "#R#file.rename('refGene.txt', '{{buildver}}_refGene.txt')#R#" | |
| [db_ucsc_cytoband] | |
| source_url = "http://hgdownload.cse.ucsc.edu/goldenPath/{{buildver}}/database/cytoBand.txt.gz" | |
| version_newest = "cytoband" | |
| version_available = ["cytoband"] | |
| buildver_available = ["hg38", "hg19", "hg18", "mm10", "mm9"] | |
| description = "UCSC goldenPath/{{buildver}}/database/cytoBand.txt.gz" | |
| after_success = "#R#file.rename('cytoBand.txt', '{{buildver}}_cytoBand.txt')#R#" | |
| [db_ucsc_knowngene] | |
| source_url = ["http://hgdownload.cse.ucsc.edu/goldenPath/{{buildver}}/database/knownGene.txt.gz", | |
| "http://hgdownload.cse.ucsc.edu/goldenPath/{{buildver}}/database/kgXref.txt.gz"] | |
| decompress = "!!glue {rep(TRUE, 2)}" | |
| version_newest = "knowngene" | |
| version_available = ["knowngene"] | |
| buildver_available = ["hg38", "hg19", "hg18"] | |
| description = "UCSC goldenPath/{{buildver}}/database/knownGene.txt.gz and kgXref.txt.gz" | |
| after_success = ["#R#file.rename('knownGene.txt', '{{buildver}}_knownGene.txt')#R#", | |
| "#R#file.rename('kgXref.txt', '{{buildver}}_kgXref.txt')#R#"] | |
| [db_ucsc_ensgene] | |
| source_url = "http://hgdownload.cse.ucsc.edu/goldenPath/{{buildver}}/database/ensGene.txt.gz" | |
| version_newest = "ensgene" | |
| version_available = ["ensgene"] | |
| buildver_available = ["hg19", "hg18"] | |
| description = "UCSC goldenPath/{{buildver}}/database/ensGene.txt.gz" | |
| after_success = "#R#file.rename('ensGene.txt', '{{buildver}}_ensGene.txt')#R#" | |
| [db_ucsc_dnase_clustered] | |
| source_url = "http://hgdownload.cse.ucsc.edu/goldenPath/{{buildver}}/encodeDCC/wgEncodeRegDnaseClustered/wgEncodeRegDnaseClustered{{version}}.bed.gz" | |
| version_newest = "V3" | |
| version_available = ["V3"] | |
| buildver_available = ["hg19"] | |
| description = "UCSC DNaseI Hypersensitivity Clusters in 125 cell types from ENCODE" | |
| after_success = "#R#file.rename('wgEncodeRegDnaseClustered{{version}}.bed', '{{buildver}}_wgEncodeRegDnaseClustered{{version}}.bed')#R#" | |
| [db_ucsc_tfbs_clustered] | |
| source_url = "http://hgdownload.cse.ucsc.edu/goldenPath/{{buildver}}/encodeDCC/wgEncodeRegTfbsClustered/wgEncodeRegTfbsClustered{{version}}.bed.gz" | |
| version_newest = "V3" | |
| version_available = ["V3"] | |
| buildver_available = ["hg19"] | |
| description = "UCSC Transcription Factor ChIP-seq (161 factors) from ENCODE with Factorbook Motifs" | |
| after_success = "#R#file.rename('wgEncodeRegTfbsClustered{{version}}.bed', '{{buildver}}_wgEncodeRegTfbsClustered{{version}}.bed')#R#" | |
| [db_annovar_refgene] | |
| source_url = ["http://www.openbioinformatics.org/annovar/download/{{buildver}}_refGene.txt.gz", | |
| "http://www.openbioinformatics.org/annovar/download/{{buildver}}_refGeneMrna.fa.gz", | |
| "http://www.openbioinformatics.org/annovar/download/{{buildver}}_refGeneVersion.txt.gz"] | |
| decompress = [true, true, true] | |
| version_newest = "refgene" | |
| version_available = ["refgene"] | |
| buildver_available = ["hg38", "hg19"] | |
| description = "FASTA sequences for all annotated transcripts in RefSeq Gene" | |
| [db_annovar_knowngene] | |
| source_url = ["http://www.openbioinformatics.org/annovar/download/{{buildver}}_knownGene.txt.gz", | |
| "http://www.openbioinformatics.org/annovar/download/{{buildver}}_knownGeneMrna.fa.gz", | |
| "http://www.openbioinformatics.org/annovar/download/{{buildver}}_kgXref.txt.gz"] | |
| decompress = [true, true, true] | |
| version_newest = "knowngene" | |
| version_available = ["knowngene"] | |
| buildver_available = ["hg19", "hg18"] | |
| description = "FASTA sequences for all annotated transcripts in UCSC Known Gene" | |
| [db_annovar_ensgene] | |
| source_url = ["http://www.openbioinformatics.org/annovar/download/{{buildver}}_ensGene.txt.gz", | |
| "http://www.openbioinformatics.org/annovar/download/{{buildver}}_ensGeneMrna.fa.gz"] | |
| decompress = [true, true] | |
| version_newest = "ensgene" | |
| version_available = ["ensgene"] | |
| buildver_available = ["hg19"] | |
| description = "FASTA sequences for all annotated transcripts in ENSEMBL Gene" | |
| [db_annovar_avsnp] | |
| source_url = ["http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.gz", | |
| "http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.idx.gz"] | |
| decompress = [true, true] | |
| version_newest = "avsnp150" | |
| version_available = ["avsnp150", "avsnp147", "avsnp144", "avsnp142", "avsnp138"] | |
| [db_annovar_avsnp.buildver_available] | |
| avsnp150 = ["hg38", "hg19"] | |
| avsnp147 = ["hg38", "hg19"] | |
| avsnp144 = ["hg38", "hg19"] | |
| avsnp142 = ["hg38", "hg19"] | |
| avsnp138 = ["hg19"] | |
| [db_annovar_avsnp.description] | |
| avsnp147 = "dbSNP147 with allelic splitting and left-normalization" | |
| avsnp144 = "dbSNP144 with allelic splitting and left-normalization (http://annovar.openbioinformatics.org/en/latest/articles/dbSNP/#additional-discussions)" | |
| avsnp142 = "dbSNP142 with allelic splitting and left-normalization" | |
| avsnp138 = "dbSNP138 with allelic splitting and left-normalization" | |
| [db_annovar_avsift] | |
| source_url = ["http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.gz", | |
| "http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.idx.gz"] | |
| decompress = [true, true] | |
| version_newest = "avsift" | |
| version_available = "avsift" | |
| buildver_available = ["hg19", "hg18"] | |
| description = "whole-exome SIFT scores for non-synonymous variants (obselete and should not be uesd any more)" | |
| [db_annovar_ljb26_all] | |
| source_url = ["http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.gz", | |
| "http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.idx.gz"] | |
| decompress = [true, true] | |
| version_newest = "ljb26_all" | |
| version_available = "ljb26_all" | |
| buildver_available = ["hg38", "hg19", "hg18"] | |
| description = "whole-exome SIFT, PolyPhen2 HDIV, PolyPhen2 HVAR, LRT, MutationTaster, MutationAssessor, FATHMM, MetaSVM, MetaLR, VEST, CADD, GERP++, PhyloP and SiPhy scores from dbNSFP version 2.6" | |
| [db_annovar_dbnsfp] | |
| source_url = ["http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.gz", | |
| "http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.idx.gz"] | |
| decompress = [true, true] | |
| version_newest = "dbnsfp35c" | |
| version_available = ["dbnsfp35a", "dbnsfp33a", "dbnsfp31a_interpro", "dbnsfp30a", "dbnsfp35c"] | |
| [db_annovar_dbnsfp.buildver_available] | |
| dbnsfp30a = ["hg38", "hg19", "hg18"] | |
| dbnsfp31a_interpro = ["hg38", "hg19"] | |
| dbnsfp33a = ["hg38", "hg19", "hg18"] | |
| dbnsfp35a = ["hg38", "hg19", "hg18"] | |
| [db_annovar_dbnsfp.description] | |
| dbnsfp30a = "whole-exome SIFT, PolyPhen2 HDIV, PolyPhen2 HVAR, LRT, MutationTaster, MutationAssessor, FATHMM, MetaSVM, MetaLR, VEST, CADD, GERP++, DANN, fitCons, PhyloP and SiPhy scores from dbNSFP version 3.0a" | |
| dbnsfp31a_interpro = "protein domain for variants" | |
| dbnsfp33a = "whole-exome SIFT, PolyPhen2 HDIV, PolyPhen2 HVAR, LRT, MutationTaster, MutationAssessor, FATHMM, PROVEAN, MetaSVM, MetaLR, VEST, M-CAP, CADD, GERP++, DANN, fathmm-MKL, Eigen, GenoCanyon, fitCons, PhyloP and SiPhy scores from dbNSFP version 3.3a" | |
| dbnsfp35a = "whole-exome SIFT, PolyPhen2 HDIV, PolyPhen2 HVAR, LRT, MutationTaster, MutationAssessor, FATHMM, PROVEAN, MetaSVM, MetaLR, VEST, M-CAP, CADD, GERP++, DANN, fathmm-MKL, Eigen, GenoCanyon, fitCons, PhyloP and SiPhy scores from dbNSFP version 3.5a" | |
| [db_annovar_intervar] | |
| source_url = ["http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.gz", | |
| "http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.idx.gz"] | |
| decompress = [true, true] | |
| version_newest = "intervar_20180118" | |
| version_available = ["intervar_20170202", "intervar_20180118"] | |
| buildver_available = ["hg19"] | |
| description = "InterVar: clinical interpretation of missense variants" | |
| [db_annovar_cg] | |
| source_url = ["http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.gz", | |
| "http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.idx.gz"] | |
| decompress = [true, true] | |
| version_newest = "cg69" | |
| version_available = ["cg69", "cg46"] | |
| buildver_available = ["hg19", "hg18"] | |
| [db_annovar_cg.description] | |
| cg69 = "allele frequency in 69 human subjects sequenced by Complete Genomics" | |
| cg46 = "alternative allele frequency in 46 unrelated human subjects sequenced by Complete Genomics" | |
| [db_annovar_cosmic] | |
| source_url = ["http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.gz", | |
| "http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.idx.gz"] | |
| decompress = [true, true] | |
| version_newest = "cosmic70" | |
| version_available = ["cosmic70", "cosmic68wgs", "cosmic68", "cosmic67wgs", "cosmic67", "cosmic65", "cosmic64"] | |
| [db_annovar_cosmic.buildver_available] | |
| cosmic70 = ["hg38", "hg19"] | |
| other = "hg19" | |
| [db_annovar_cosmic.description] | |
| csomic = "COSMIC database version" | |
| cosmic_wgs = "COSMIC database version on WGS data" | |
| [db_annovar_esp6500siv2] | |
| source_url = ["http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.gz", | |
| "http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.idx.gz"] | |
| decompress = [true, true] | |
| version_newest = "esp6500siv2_all" | |
| version_available = ["esp6500siv2_ea", "esp6500siv2_aa", "esp6500siv2_all"] | |
| buildver_available = ["hg38", "hg19", "hg18"] | |
| [db_annovar_esp6500siv2.description] | |
| esp6500siv2_ea = "alternative allele frequency in European American subjects in the NHLBI-ESP project with 6500 exomes, including the indel calls and the chrY calls. This is lifted over from hg19 by myself" | |
| esp6500siv2_aa = "alternative allele frequency in African American subjects in the NHLBI-ESP project with 6500 exomes, including the indel calls and the chrY calls. This is lifted over from hg19 by myself." | |
| esp6500siv2_all = "alternative allele frequency in All subjects in the NHLBI-ESP project with 6500 exomes, including the indel calls and the chrY calls. This is lifted over from hg19 by myself." | |
| [db_annovar_exac03] | |
| source_url = ["http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.gz", | |
| "http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.idx.gz"] | |
| decompress = [true, true] | |
| version_newest = "exac03notcga" | |
| version_available = ["exac03nontcga", "exac03nonpsych", "exac03"] | |
| [db_annovar_exac03.buildver_available] | |
| exac03nontcga = ["hg38", "hg19"] | |
| exac03nonpsych = ["hg38", "hg19"] | |
| exac03 = ["hg38", "hg19", "hg18"] | |
| [db_annovar_exac03.description] | |
| exac03nontcga = "ExAC on non-TCGA samples (updated header)" | |
| exac03nonpsych = "ExAC on non-Psychiatric disease samples (updated header)" | |
| exac03 = "ExAC 65000 exome allele frequency data for ALL, AFR (African), AMR (Admixed American), EAS (East Asian), FIN (Finnish), NFE (Non-finnish European), OTH (other), SAS (South Asian)). version 0.3. Left normalization done." | |
| [db_annovar_gnomad] | |
| source_url = ["http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.gz", | |
| "http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.idx.gz"] | |
| decompress = [true, true] | |
| version_newest = "gnomad_genome" | |
| version_available = ["gnomad_exome", "gnomad_genome", "gnomad211_exome", "gnomad211_genome"] | |
| buildver_available = ["hg38", "hg19"] | |
| [db_annovar_gnomad.description] | |
| gnomad_exome = "gnomAD exome collection" | |
| gnomad_genome = "gnomAD genome collection" | |
| gnomad211_exnome = """gnomAD exome collection (v2.1.1), with "AF AF_popmax AF_male AF_female AF_raw AF_afr AF_sas AF_amr AF_eas AF_nfe AF_fin AF_asj AF_oth non_topmed_AF_popmax non_neuro_AF_popmax non_cancer_AF_popmax controls_AF_popmax" header""" | |
| gnomad211_genome = "same above all" | |
| [db_annovar_kaviar] | |
| source_url = ["http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.gz", | |
| "http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.idx.gz"] | |
| decompress = [true, true] | |
| version_newest = "kaviar_20150923" | |
| version_available = ["kaviar_20150923"] | |
| buildver_available = ["hg38", "hg19"] | |
| description = "170 million Known VARiants from 13K genomes and 64K exomes in 34 projects" | |
| [db_annovar_hrcr1] | |
| source_url = ["http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.gz", | |
| "http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.idx.gz"] | |
| decompress = [true, true] | |
| version_newest = "hrcr1" | |
| version_available = ["hrcr1"] | |
| buildver_available = ["hg38", "hg19"] | |
| description = "40 million variants from 32K samples in haplotype reference consortium" | |
| [db_annovar_gme] | |
| source_url = ["http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.gz", | |
| "http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.idx.gz"] | |
| decompress = [true, true] | |
| version_newest = "gme" | |
| version_available = ["gme"] | |
| buildver_available = ["hg38", "hg19"] | |
| description = "Great Middle East allele frequency including NWA (northwest Africa), NEA (northeast Africa), AP (Arabian peninsula), Israel, SD (Syrian desert), TP (Turkish peninsula) and CA (Central Asia)" | |
| [db_annovar_mcap] | |
| source_url = ["http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.gz", | |
| "http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.idx.gz"] | |
| decompress = [true, true] | |
| version_newest = "mcap13" | |
| version_available = ["mcap", "mcap13"] | |
| buildver_available = ["hg38", "hg19"] | |
| description = "M-CAP scores for non-synonymous variants; mcap13:M-CAP scores v1.3, 20181203" | |
| [db_annovar_revel] | |
| source_url = ["http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.gz", | |
| "http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.idx.gz"] | |
| decompress = [true, true] | |
| version_newest = "revel" | |
| version_available = ["revel"] | |
| buildver_available = ["hg38", "hg19"] | |
| description = "REVEL scores for non-synonymous variants" | |
| [db_annovar_snp] | |
| source_url = ["http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.gz", | |
| "http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.idx.gz"] | |
| decompress = [true, true] | |
| version_newest = "snp138" | |
| version_available = ["snp138", "snp137", "snp135", "snp132", "snp131", "snp130", "snp129", "snp128"] | |
| description = "dbSNP with ANNOVAR index files" | |
| [db_annovar_snp.buildver_available] | |
| snp128 = "hg18" | |
| snp137 = "hg19" | |
| other = ["hg19", "hg18"] | |
| [db_annovar_nci60] | |
| source_url = ["http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.gz", | |
| "http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.idx.gz"] | |
| decompress = [true, true] | |
| version_newest = "nci60" | |
| version_available = ["nci60"] | |
| buildver_available = ["hg38", "hg19", "hg18"] | |
| description = "NCI-60 human tumor cell line panel exome sequencing allele frequency data" | |
| [db_annovar_icgc21] | |
| source_url = ["http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.gz", | |
| "http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.idx.gz"] | |
| decompress = [true, true] | |
| version_newest = "icgc21" | |
| version_available = ["icgc21"] | |
| buildver_available = ["hg19"] | |
| description = "International Cancer Genome Consortium version 21" | |
| [db_annovar_clinvar] | |
| source_url = ["http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.gz", | |
| "http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.idx.gz"] | |
| decompress = [true, true] | |
| version_newest = "clinvar_20170905" | |
| version_available = ["clinvar_20131105", "clinvar_20140211", "clinvar_20140303", | |
| "clinvar_20140702", "clinvar_20140902", "clinvar_20140929", | |
| "clinvar_20150330", "clinvar_20150629", "clinvar_20151201", | |
| "clinvar_20160302", "clinvar_20161128", "clinvar_20170130", | |
| "clinvar_20170501", "clinvar_20170905", "clinvar_20180603", | |
| "clinvar_20190305"] | |
| description = "CLINVAR database with Variant Clinical Significance (unknown, untested, non-pathogenic, probable-non-pathogenic, probable-pathogenic, pathogenic, drug-response, histocompatibility, other) and Variant disease name" | |
| [db_annovar_clinvar.buildver_available] | |
| clinvar_20140929 = "hg19" | |
| clinvar_20140211 = "hg19" | |
| clinvar_20140303 = "hg19" | |
| other = ["hg38", "hg19"] | |
| [db_annovar_popfreq] | |
| source_url = ["http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.gz", | |
| "http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.idx.gz"] | |
| decompress = [true, true] | |
| version_newest = "popfreq_all_20150413" | |
| version_available = ["popfreq_max_20150413", "popfreq_all_20150413"] | |
| buildver_available = ["hg19"] | |
| [db_annovar_popfreq.description] | |
| popfreq_max_20150413 = "A database containing the maximum allele frequency from 1000G, ESP6500, ExAC and CG46" | |
| popfreq_all_20150413 = "A database containing all allele frequency from 1000G, ESP6500, ExAC and CG46" | |
| [db_annovar_mitimpact] | |
| source_url = ["http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.gz", | |
| "http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.idx.gz"] | |
| decompress = [true, true] | |
| version_newest = "mitimpact24" | |
| version_available = ["mitimpact2", "mitimpact24"] | |
| buildver_available = ["hg19"] | |
| description = "pathogenicity predictions of human mitochondrial missense variants (http://www.ncbi.nlm.nih.gov/m/pubmed/25516408/)" | |
| [db_annovar_gerp] | |
| source_url = ["http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.gz", | |
| "http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.idx.gz"] | |
| decompress = [true, true] | |
| version_newest = "gerp++elem" | |
| version_available = ["gerp++elem", "gerp++gt2"] | |
| [db_annovar_gerp.buildver_available] | |
| grep++elem = ["hg19", "hg18", "mm9"] | |
| gerp++gt2 = ["hg19", "hg18"] | |
| [db_annovar_cadd] | |
| source_url = ["http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.gz", | |
| "http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.idx.gz"] | |
| decompress = [true, true] | |
| version_newest = "cadd13" | |
| version_available = ["cadd", "caddgt10", "caddgt20", "cadd13", "cadd13gt10", "cadd13gt20"] | |
| buildver_available = "hg19" | |
| description = "CADD score; 13-version 1.3; gt10-score>10; gt20-score>20" | |
| [db_annovar_fathmm] | |
| source_url = ["http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.gz", | |
| "http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.idx.gz"] | |
| decompress = [true, true] | |
| version_newest = "fathmm" | |
| version_available = ["fathmm"] | |
| buildver_available = "hg19" | |
| description = "whole-genome FATHMM_coding and FATHMM_noncoding scores (noncoding and coding scores in the 2015 version was reversed)" | |
| [db_annovar_gwava] | |
| source_url = ["http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.gz", | |
| "http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.idx.gz"] | |
| decompress = [true, true] | |
| version_newest = "gwava" | |
| version_available = ["gwava"] | |
| buildver_available = "hg19" | |
| description = "whole genome GWAVA_region_score GWAVA_tss_score GWAVA_unmatched_score, see ref (http://www.nature.com/nmeth/journal/v11/n3/abs/nmeth.2832.html)" | |
| [db_annovar_eigen] | |
| source_url = ["http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.gz", | |
| "http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.idx.gz"] | |
| decompress = [true, true] | |
| version_newest = "eigen" | |
| version_available = ["eigen"] | |
| buildver_available = "hg19" | |
| description = "whole-genome Eigen scores, see ref (http://www.ncbi.nlm.nih.gov/pubmed/26727659)" | |
| [db_annovar_1000g] | |
| source_url = "http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.zip" | |
| version_newest = "1000g2015aug" | |
| version_available = ["1000g2015aug", "1000g2014oct", "1000g2014sep", "1000g2014aug", "1000g2012apr", "1000g2012feb", | |
| "1000g2011may", "1000g2010nov", "1000g2012apr", "1000g2010jul", "1000g2010", "1000g"] | |
| description = "alternative allele frequency data in 1000 Genomes Project" | |
| [db_annovar_1000g.buildver_available] | |
| 1000g2015aug = ["hg38", "hg19"] | |
| 1000g2014oct = ["hg38", "hg19", "hg18"] | |
| 1000g2012apr = ["hg19", "hg18"] | |
| 1000g2012jul = "hg18" | |
| 1000g2010 = "hg18" | |
| 1000g = "hg18" | |
| other = "hg19" | |
| [db_annovar_dbscsnv] | |
| source_url = ["http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.gz", | |
| "http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.idx.gz"] | |
| decompress = [true, true] | |
| version_newest = "dbscsnv11" | |
| version_available = ["dbscsnv11"] | |
| buildver_available = ["hg38", "hg19"] | |
| description = "dbscSNV version 1.1 for splice site prediction by AdaBoost and Random Forest" | |
| [db_annovar_dbscsnv_sqlite] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{buildver}}_{{version}}.sqlite.sql.gz" | |
| decompress = [true, true] | |
| version_newest = "dbscsnv11" | |
| version_available = ["dbscsnv11"] | |
| description = "dbscSNV version 1.1 for splice site prediction by AdaBoost and Random Forest" | |
| buildver_available = "hg19" | |
| install = "#R#sql2sqlite('{{buildver}}_{{version}}.sqlite.sql', dbname = '{{buildver}}_{{version}}.sqlite')#R#" | |
| [db_annovar_regsnpintron] | |
| source_url = ["http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.gz", | |
| "http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.idx.gz"] | |
| decompress = [true, true] | |
| version_newest = "regsnpintron" | |
| version_available = ["regsnpintron"] | |
| buildver_available = ["hg19", "hg38"] | |
| description = "prioritize the disease-causing probability of intronic SNVs" | |
| [db_annovar_avsnp_sqlite] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{buildver}}_{{version}}.sqlite.sql.gz" | |
| version_newest = "avsnp147" | |
| version_available = ["avsnp147", "avsnp147.common", "avsnp144", "avsnp142", "avsnp138"] | |
| buildver_available = "hg19" | |
| install = "#R#sql2sqlite('{{buildver}}_{{version}}.sqlite.sql', dbname = '{{buildver}}_{{version}}.sqlite')#R#" | |
| [db_annovar_cosmic_sqlite] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{buildver}}_{{version}}.sqlite.sql.gz" | |
| version_newest = "cosmic81" | |
| version_available = ["cosmic70", "cosmic81"] | |
| buildver_available = "hg19" | |
| install = "#R#sql2sqlite('{{buildver}}_{{version}}.sqlite.sql', dbname = '{{buildver}}_{{version}}.sqlite')#R#" | |
| [db_annovar_1000g_sqlite] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{buildver}}_{{version}}.tar.gz" | |
| version_newest = "1000g2015aug" | |
| version_available = ["1000g2015aug"] | |
| buildver_available = "hg19" | |
| install = """#R# | |
| for(i in c('all', 'afr', 'eas', 'eur', 'sas', 'amr')) { | |
| x <- set.1000g.db(sprintf('{{version}}_%s', i), '{{buildver}}', "sql"); | |
| params <- list(sql.file = x, dbname = str_replace(x, '.sql$', '')); | |
| do.call(sql2sqlite, params) | |
| } | |
| #R#""" | |
| [db_annovar_radar_sqlite] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{buildver}}_{{version}}.sqlite.sql.gz" | |
| version_newest = "RADAR2" | |
| version_available = ["RADAR2"] | |
| buildver_available = "hg19" | |
| install = "#R#sql2sqlite('{{buildver}}_{{version}}.sqlite.sql', dbname = '{{buildver}}_{{version}}.sqlite')#R#" | |
| [db_annovar_darned_sqlite] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{buildver}}_{{version}}.sqlite.sql.gz" | |
| version_newest = "DARNED" | |
| version_available = ["DARNED"] | |
| buildver_available = "hg19" | |
| install = "#R#sql2sqlite('{{buildver}}_{{version}}.sqlite.sql', dbname = '{{buildver}}_{{version}}.sqlite')#R#" | |
| [db_annovar_clinvar_sqlite] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{buildver}}_{{version}}.sqlite.sql.gz" | |
| version_newest = "clinvar_20180603" | |
| version_available = ["clinvar_20170130", "clinvar_20170501", "clinvar_20170905", "clinvar_20180603"] | |
| buildver_available = "hg19" | |
| install = "#R#sql2sqlite('{{buildver}}_{{version}}.sqlite.sql', dbname = '{{buildver}}_{{version}}.sqlite')#R#" | |
| [db_annovar_intervar_sqlite] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{buildver}}_{{version}}.sqlite.sql.gz" | |
| version_newest = "intervar_20170202" | |
| version_available = ["intervar_20170202"] | |
| buildver_available = "hg19" | |
| install = "#R#sql2sqlite('{{buildver}}_{{version}}.sqlite.sql', dbname = '{{buildver}}_{{version}}.sqlite')#R#" | |
| [db_annovar_cadd_sqlite] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{buildver}}_{{version}}.sqlite.sql.gz" | |
| version_newest = "cadd13" | |
| version_available = ["cadd13", "cadd13gt10", "cadd13gt20", "cadd", "caddgt10", "caddgt20"] | |
| buildver_available = "hg19" | |
| install = "#R#sql2sqlite('{{buildver}}_{{version}}.sqlite.sql', dbname = '{{buildver}}_{{version}}.sqlite')#R#" | |
| [db_annovar_nci60_sqlite] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{buildver}}_{{version}}.sqlite.sql.gz" | |
| version_newest = "nci60" | |
| version_available = "nci60" | |
| buildver_available = "hg19" | |
| install = "#R#sql2sqlite('{{buildver}}_{{version}}.sqlite.sql', dbname = '{{buildver}}_{{version}}.sqlite')#R#" | |
| [db_annovar_icgc_sqlite] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{buildver}}_{{version}}.sqlite.sql.gz" | |
| version_newest = "icgc21" | |
| version_available = "icgc21" | |
| buildver_available = "hg19" | |
| install = "#R#sql2sqlite('{{buildver}}_{{version}}.sqlite.sql', dbname = '{{buildver}}_{{version}}.sqlite')#R#" | |
| [db_annovar_dbnsfp_sqlite] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{buildver}}_{{version}}.sqlite.sql.gz" | |
| version_newest = "dbnsfp33a" | |
| version_available = ["dbnsfp33a", "dbnsfp31a_interpro", "dbnsfp30a"] | |
| buildver_available = "hg19" | |
| install = "#R#sql2sqlite('{{buildver}}_{{version}}.sqlite.sql', dbname = '{{buildver}}_{{version}}.sqlite')#R#" | |
| [db_annovar_normal_pool] | |
| source_url = ["http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{buildver}}_normal{{version}}.txt.gz"] | |
| version_newest = "2016sih_wes_ball" | |
| version_available = ['2016sih_wes_ball', '2016sih_wes_tall', '2016sih_wes_nkt', '2016sih_wgs_nkt', '2016sih_wgs_dlbcl', '2018sih_wgs_nkt_full'] | |
| buildver_available = "hg19" | |
| description = "Variants called from normal control samples (SIH)" | |
| [db_annovar_normal_pool_sqlite] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{buildver}}_normal{{version}}.sql.gz" | |
| version_newest = "2018sih_wgs_nkt_full_sqlite" | |
| version_available = ['2018sih_wgs_nkt_full_sqlite'] | |
| buildver_available = "hg19" | |
| install = "#R#sql2sqlite('{{buildver}}_normal{{version}}.sql', dbname = '{{buildver}}_normal{{version}}.sqlite')#R#" | |
| description = "Variants called from normal control samples (SIH), big files" | |
| [db_annovar_epi_genes] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{buildver}}_epi_genes_{{version}}.txt" | |
| decompress = false | |
| version_available = ["v1.1"] | |
| buildver_available = "hg19" | |
| description = "Epigenetic genes defined in 'The landscape of somatic mutations in epigenetic regulators across 1,000 paediatric cancer genomes', doi:10.1038/ncomms4630" | |
| [db_annovar_cscd] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{buildver}}_{{version}}.txt.gz" | |
| version_available = ["cscd_cancer_circrna", "cscd_common_circrna", "cscd_normal_circrna"] | |
| buildver_available = ["hg19", "hg38"] | |
| description = "Download from http://gb.whu.edu.cn/CSCD/, Cancer specific circRNA database." | |
| [db_annovar_varcards] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{buildver}}_{{version}}.txt.gz" | |
| version_available = "varcards" | |
| buildver_available = "hg19" | |
| description = "Variants data download from http://varcards.biols.ac.cn, Varcards is an integrated genetic and clinical database for coding variants in the human genome. doi:10.1093/nar/gkx1039" | |
| [db_annovar_varcards_sqlite] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{buildver}}_{{version}}.sql.gz" | |
| version_available = "varcards" | |
| buildver_available = "hg19" | |
| install = "#R#sql2sqlite('{{buildver}}_{{version}}.sqlite.sql', dbname = '{{buildver}}_{{version}}.sqlite')#R#" | |
| [db_annovar_hgnc] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{buildver}}_{{version}}.txt.gz" | |
| version_available = "hgnc_coding" | |
| buildver_available = "hg19" | |
| description = "HGNC is responsible for approving unique symbols and names for human loci, including protein coding genes, ncRNA genes and pseudogenes, to allow unambiguous scientific communication. hg19_hgnc_coding is the ftp://ftp.ebi.ac.uk/pub/databases/genenames/new/tsv/hgnc_complete_set.txt" | |
| [db_annovar_brvar] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{license}}/{{buildver}}_{{version}}.txt.gz" | |
| version_available = ["brvar_v1_core", "brvar_v1_extra"] | |
| buildver_available = "hg19" | |
| note = "not available now" | |
| [db_annovar_brvar.description] | |
| brvar_v1_core = "Integrated 1285 cases B-cell acute lymphoblastic leukemia (B-ALL) from public data portal. Variant calling result, using GATK (Haplotypecaller, UnifiedGenotyper), Lofreq and Varscan2, be merged (bases with baseQ/BAQ >13;minimum coverge>=10; maximum alt allele frequency >= 0.04; alt allel read number >= 3; only the varinats that mutation type is missense, nonsense, frameshift del, frameshift del, nonframeshift del, nonframeshift del, stoploss, nonsense and unknown be included)" | |
| brvar_v1_extra = "Complementary set of core, such as Synonymous mutation, intron, intergenic, UTR3 and UTR5, .etc" | |
| [db_annovar_loftool_scores] | |
| source_url = "http://www.openbioinformatics.org/annovar/download/{{version}}.txt.gz" | |
| version_available = "LoFtool_scores" | |
| buildver_available = "hg19" | |
| [db_annovar_loftool_scores.description] | |
| LoFtool_scores="LoFtool score: gene loss-of-function score percentiles. The smaller the percentile, the most intolerant is the gene to functional variation. The file can be downloaded [here](http://clark.compbio.iupui.edu/regsnp_intron_web/). Manuscript in preparation (please contact Dr. Joao Fadista - joao.fadista@med.lu.se). The authors would like to thank the Exome Aggregation Consortium and the groups that provided exome variant data for comparison. A full list of contributing groups can be found at http://exac.broadinstitute.org/about." | |
| [db_annovar_rvis_esv_score] | |
| source_url = "http://www.openbioinformatics.org/annovar/download/{{version}}.txt.gz" | |
| version_available = "RVIS_ExAC_4KW" | |
| buildver_available = "hg19" | |
| [db_annovar_rvis_esv_score.description] | |
| RVIS_ExAC_4KW = "RVIS-ESV score: RVIS score measures genetic intolerance of genes to functional mutations, as described in [Petrovski et al.](http://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1003709) Original RVIS was constructed based on patterns of standing variation in 6503 samples. The authors have recently constructed scores based on the ~61,000 samples from ExAC. There is high correlation, but more resolution for many genes. The ExAC cohort implementation is what we consider RVIS (v2). It can be downloaded here." | |
| [db_annovar_gdi_score] | |
| source_url = "http://www.openbioinformatics.org/annovar/download/{{version}}.txt.gz" | |
| version_available = "GDI_full_10282015" | |
| buildver_available = "hg19" | |
| [db_annovar_gdi_score.description] | |
| GDI_full_10282015 = "GDI score: the gene damage index (GDI) is describing the accumulated mutational damage for each human gene in the general population, and shows that highly mutated/damaged genes are unlikely to be disease-causing and yet they generate a big proportion of false positive variants harbored in such genes. Therefore removing high GDI genes is a very effective way to remove confidently false positives from WES/WGS data. More details were given in [this paper](http://www.pnas.org/content/early/2015/10/14/1518646112.abstract). The data set includes general damage prediction (low/medium/high) for different disease type (all, Mendelian, cancer, and PID) and can be downloaded from here." | |
| [db_annovar_tmcsnpdb] | |
| source_url = "http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.gz" | |
| version_available = "tmcsnpdb" | |
| buildver_available = "hg38" | |
| [db_annovar_tmcsnpdb.description] | |
| tmcsnpdb="TMC-SNPDB: SNP database from whole exome data of 62 normal samples derived from cancer patients of Indian origin, representing 114, 309 unique germline variants. Read the manuscript [here](http://database.oxfordjournals.org/content/2016/baw104.full). It is useful for exome sequencing studies on Indian populations and can be downloaded from here." | |
| [db_annovar_rediportal_sqlite] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{buildver}}_{{version}}.sqlite.sql.gz" | |
| version_available = ["REDIportal"] | |
| buildver_available = "hg19" | |
| install = "#R#sql2sqlite('{{buildver}}_{{version}}.sqlite.sql', dbname = '{{buildver}}_{{version}}.sqlite')#R#" | |
| [db_annovar_gme_sqlite] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{buildver}}_{{version}}.sqlite.sql.gz" | |
| version_available = ["gme"] | |
| buildver_available = "hg19" | |
| install = "#R#sql2sqlite('{{buildver}}_{{version}}.sqlite.sql', dbname = '{{buildver}}_{{version}}.sqlite')#R#" | |
| [db_annovar_hrcr1_sqlite] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{buildver}}_{{version}}.sqlite.sql.gz" | |
| version_available = ["hrcr1"] | |
| buildver_available = "hg19" | |
| install = "#R#sql2sqlite('{{buildver}}_{{version}}.sqlite.sql', dbname = '{{buildver}}_{{version}}.sqlite')#R#" | |
| [db_annovar_revel_sqlite] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{buildver}}_{{version}}.sqlite.sql.gz" | |
| version_available = ["revel"] | |
| buildver_available = "hg19" | |
| install = "#R#sql2sqlite('{{buildver}}_{{version}}.sqlite.sql', dbname = '{{buildver}}_{{version}}.sqlite')#R#" | |
| [db_annovar_mcap_sqlite] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{buildver}}_{{version}}.sqlite.sql.gz" | |
| version_available = ["mcap"] | |
| buildver_available = "hg19" | |
| install = "#R#sql2sqlite('{{buildver}}_{{version}}.sqlite.sql', dbname = '{{buildver}}_{{version}}.sqlite')#R#" | |
| [db_annovar_exac03_sqlite] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{buildver}}_{{version}}.sqlite.sql.gz" | |
| version_available = ["exac03", "exac03nonpsych", "exac03nontcga"] | |
| buildver_available = "hg19" | |
| install = "#R#sql2sqlite('{{buildver}}_{{version}}.sqlite.sql', dbname = '{{buildver}}_{{version}}.sqlite')#R#" | |
| [db_annovar_gnomad_sqlite] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{buildver}}_{{version}}.sqlite.sql.gz" | |
| version_available = ["gnomad_exome", "gnomad_genome"] | |
| buildver_available = "hg19" | |
| install = "#R#sql2sqlite('{{buildver}}_{{version}}.sqlite.sql', dbname = '{{buildver}}_{{version}}.sqlite')#R#" | |
| [db_annovar_popfreq_sqlite] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{buildver}}_{{version}}.sqlite.sql.gz" | |
| version_available = ["popfreq_all_20150413", "popfreq_max_20150413"] | |
| buildver_available = "hg19" | |
| install = "#R#sql2sqlite('{{buildver}}_{{version}}.sqlite.sql', dbname = '{{buildver}}_{{version}}.sqlite')#R#" | |
| [db_annovar_gwava_sqlite] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{buildver}}_{{version}}.sqlite.sql.gz" | |
| version_available = ["gwava"] | |
| buildver_available = "hg19" | |
| install = "#R#sql2sqlite('{{buildver}}_{{version}}.sqlite.sql', dbname = '{{buildver}}_{{version}}.sqlite')#R#" | |
| [db_annovar_eigen_sqlite] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{buildver}}_{{version}}.sqlite.sql.gz" | |
| version_available = ["eigen"] | |
| buildver_available = "hg19" | |
| install = "#R#sql2sqlite('{{buildver}}_{{version}}.sqlite.sql', dbname = '{{buildver}}_{{version}}.sqlite')#R#" | |
| [db_annovar_dhs_gene_connectivity] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{buildver}}_{{version}}.txt.gz" | |
| version_available = "dhs_gene_connectivity_2012" | |
| buildver_available = "hg19" | |
| description = "Genomic coordinates of all promoter DHSs and distal, non-promoter DHSs within +-500 kb correlated with them at threshold 0.7." | |
| [db_annovar_seeqtl] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{buildver}}_{{version}}.txt.gz" | |
| version_available = ["seeqtl_qvalue_hapmap3_cis", "seeqtl_qvalue_hapmap3_trans", "seeqtl_qvalue_myers_cis", "seeqtl_qvalue_myers_trans"] | |
| buildver_available = "hg19" | |
| description = "eQTLs of meta-analysis (consensus eQTLs) from HapMap human lymphoblastoid cell lines; eQTLs of human brain from Myers et al, see http://www.bios.unc.edu/research/genomic_software/seeQTL/data_source" | |
| [db_annovar_gtex_eqtl_egenes] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{buildver}}_gtex_{{version}}.v7.egenes.txt.gz" | |
| version_available = ["adipose_subcutaneous", "adipose_visceral_omentum", "adrenal_gland", "artery_aorta", "artery_coronary", "artery_tibial", "brain_amygdala", "brain_anterior_cingulate_cortex_ba24", "brain_caudate_basal_ganglia", "brain_cerebellar_hemisphere", "brain_cerebellum", "brain_cortex", "brain_frontal_cortex_ba9", "brain_hippocampus", "brain_hypothalamus", "brain_nucleus_accumbens_basal_ganglia", "brain_putamen_basal_ganglia", "brain_spinal_cord_cervical_c_1", "brain_substantia_nigra", "breast_mammary_tissue", "cells_ebv_transformed_lymphocytes", "cells_transformed_fibroblasts", "colon_sigmoid", "colon_transverse", "esophagus_gastroesophageal_junction", "esophagus_mucosa", "esophagus_muscularis", "heart_atrial_appendage", "heart_left_ventricle", "liver", "lung", "minor_salivary_gland", "muscle_skeletal", "nerve_tibial", "ovary", "pancreas", "pituitary", "prostate", "skin_not_sun_exposed_suprapubic", "skin_sun_exposed_lower_leg", "small_intestine_terminal_ileum", "spleen", "stomach", "testis", "thyroid", "uterus", "vagina", "whole_blood"] | |
| buildver_available = "hg19" | |
| description = "eQTLs of GTEx." | |
| [db_annovar_gtex_eqtl_pairs] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{buildver}}_gtex_{{version}}.v7.signif_variant_gene_pairs.txt.gz" | |
| version_available = ["adipose_subcutaneous", "adipose_visceral_omentum", "adrenal_gland", "artery_aorta", "artery_coronary", "artery_tibial", "brain_amygdala", "brain_anterior_cingulate_cortex_ba24", "brain_caudate_basal_ganglia", "brain_cerebellar_hemisphere", "brain_cerebellum", "brain_cortex", "brain_frontal_cortex_ba9", "brain_hippocampus", "brain_hypothalamus", "brain_nucleus_accumbens_basal_ganglia", "brain_putamen_basal_ganglia", "brain_spinal_cord_cervical_c_1", "brain_substantia_nigra", "breast_mammary_tissue", "cells_ebv_transformed_lymphocytes", "cells_transformed_fibroblasts", "colon_sigmoid", "colon_transverse", "esophagus_gastroesophageal_junction", "esophagus_mucosa", "esophagus_muscularis", "heart_atrial_appendage", "heart_left_ventricle", "liver", "lung", "minor_salivary_gland", "muscle_skeletal", "nerve_tibial", "ovary", "pancreas", "pituitary", "prostate", "skin_not_sun_exposed_suprapubic", "skin_sun_exposed_lower_leg", "small_intestine_terminal_ileum", "spleen", "stomach", "testis", "thyroid", "uterus", "vagina", "whole_blood"] | |
| buildver_available = "hg19" | |
| description = "eQTLs of GTEx significant variant gene paris." | |
| [db_annovar_rddpred_sqlite] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{buildver}}_{{version}}.sqlite.sql.gz" | |
| version_available = "rddpred_mes" | |
| buildver_available = "hg19" | |
| install = "#R#sql2sqlite('{{buildver}}_{{version}}.sqlite.sql', dbname = '{{buildver}}_{{version}}.sqlite')#R#" | |
| [db_annovar_lncediting_sqlite] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{buildver}}_{{version}}.sqlite.sql.gz" | |
| version_available = "lncediting" | |
| buildver_available = "hg19" | |
| install = "#R#sql2sqlite('{{buildver}}_{{version}}.sqlite.sql', dbname = '{{buildver}}_{{version}}.sqlite')#R#" | |
| [db_annovar_civic_gene_summaries] | |
| source_url = "https://civic.genome.wustl.edu/downloads/{{version}}/{{version}}-GeneSummaries.tsv" | |
| version_available = "nightly" | |
| buildver_available = ["hg19", "hg38"] | |
| install = "#R#file.rename('{{version}}-GeneSummaries.tsv', '{{version}}_civic_gene_summaries.txt')#R#" | |
| [db_annovar_omim_genemap2] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{version}}.txt.gz" | |
| version_available = ["omim_genemap2"] | |
| buildver_available = "hg19" | |
| description = "omim genemap2 txt file, download from http://www.omim.org/" | |
| [db_annovar_tall_somatic_genes] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/tall_somatic_genes_{{version}}.txt" | |
| version_available = "20171206" | |
| buildver_available = ["hg19", "hg38"] | |
| description = "Collected from recently published papers, 1) Recurrent SPI1 (PU.1) fusions in high-risk pediatric T cell acute lymphoblastic leukemia 2) The genomic landscape of pediatric and young adult T-lineage acute lymphoblastic leukemia 3) Identification of fusion genes and characterization of transcriptome features in T-cell acute lymphoblastic leukemia" | |
| [db_annovar_docm] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{buildver}}_{{version}}.txt.gz" | |
| version_available = "docm_3.2" | |
| buildver_available = ["hg19"] | |
| description = "DoCM, the Database of Curated Mutations, is a highly curated database of known, disease-causing mutations that provides easily explorable variant lists with direct links to source citations for easy verification. http://docm.genome.wustl.edu/about" | |
| [db_annovar_intogen] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{buildver}}_{{version}}.sqlite.sql.gz" | |
| version_available = "intogen_20180119" | |
| buildver_available = ["hg19"] | |
| description = "Merged intogen table intogen_mutations_catalog [Driver or passenger mutations]. https://www.intogen.org/downloads" | |
| install = "#R#sql2sqlite('{{buildver}}_{{version}}.sqlite.sql', dbname = '{{buildver}}_{{version}}.sqlite')#R#" | |
| [db_annovar_disgenet] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{version}}.txt.gz" | |
| version_available = ["disgenet_befree_gene_disease", "disgenet_befree_rs_disease", "disgenet_curated_gene_disease", "disgenet_curated_variant_disease", "disgenet_gene_disease", "disgenet_pubannotator_variant_disease", "disgenet_rs_disease"] | |
| buildver_available = ["hg19", "hg38"] | |
| description = "See http://www.disgenet.org/web/DisGeNET/menu/downloads" | |
| [db_annovar_cancer_hotspots] | |
| source_url = "http://bioinfo.rjh.com.cn/download/annovarR/humandb/{{version}}.txt.gz" | |
| version_available = ["cancer_hotspots_v2"] | |
| buildver_available = ["hg19", "hg38"] | |
| description = "See http://cancerhotspots.org/#/home Hotspot Results V2 sheet1" | |
| [db_annovar_abraom] | |
| source_url = ["http://www.openbioinformatics.org/annovar/download/{{buildver}}_{{version}}.txt.gz"] | |
| version_available = ["abraom"] | |
| buildver_available = ["hg19", "hg38"] | |
| description = "abraom: 2.3 million [Brazilian genomic variants](https://www.ncbi.nlm.nih.gov/pubmed/28332257)" |