{ "bcoid": "GLY_000459", "title": "Human Germline Mutation", "description": "The Human Germline Mutation dataset contains human [taxid:9606] germline mutation data from EBI Variant ...", "filename": "human_protein_mutation_germline.csv", "filetype": "csv", "categories": { "species": "Homo sapiens", "molecule": "Protein", "tags": "Germline Mutations", "file_type": "csv", "status": "Reviewed", "scope": "internal" }, "minitable": { "content": [ [ "A6NGB0-1...", "TMEM191C..." ], [ "A6NGB0-1...", "TMEM191C..." ] ], "headers": [ "uniprotkb_ca...", "gene_name..." ], "colwidth": [ "40%", "20%" ] }, "sampledata": { "type": "table", "data": [ [ { "type": "string", "label": "uniprotkb_canonical_ac" }, { "type": "string", "label": "gene_name" }, { "type": "string", "label": "protein_name" }, { "type": "string", "label": "data_source" }, { "type": "string", "label": "dbsnp_id" }, { "type": "string", "label": "cosmic_id" }, { "type": "string", "label": "cytogenic_band" }, { "type": "string", 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"Coiled-coil domain containing 55, isoform CRA_a", "gnomAD", "rs1213968038", "", "17q11.2", "17", "30179186", "G", "A", "E", "K", "79", "79", "", "missense", "0.529", "possibly damaging", "0.0", "deleterious", "0", "", "", "", "", "", "" ], [ "Q9H0G5-1", "NSRP1", "Coiled-coil domain containing 55, isoform CRA_a", "TOPMed,gnomAD", "rs1260393699", "", "17q11.2", "17", "30179189", "A", "G", "K", "E", "80", "80", "", "missense", "0.627", "possibly damaging", "0.06", "deleterious, tolerated", "0", "", "", "", "", "", "" ], [ "Q9H0G5-1", "NSRP1", "Coiled-coil domain containing 55, isoform CRA_a", "1000Genomes,ESP,ExAC,gnomAD", "rs372734687", "", "17q11.2", "17", "30179191", "G", "T", "K", "N", "80", "80", "2.0E-4", "missense", "0.056", "benign", "0.05", "deleterious, tolerated", "0", "", "", "", "", "", "" ], [ "Q9H0G5-1", "NSRP1", "Coiled-coil domain containing 55, isoform CRA_a", "ExAC,gnomAD", "rs767158654", "", "17q11.2", "17", "30179193", "G", "A", "G", "E", "81", "81", "", "missense", "0.462", "possibly damaging", "1.0", "tolerated", "0", "", "", "", "", "", "" ], [ "Q9H0G5-1", "NSRP1", "Coiled-coil domain containing 55, isoform CRA_a", "gnomAD", "rs1206676661", "", "17q11.2", "17", "30179192", "G", "C", "G", "R", "81", "81", "", "missense", "0.987", "probably damaging", "0.045", "deleterious, tolerated", "0", "", "", "", "", "", "" ], [ "Q9H0G5-1", "NSRP1", "Coiled-coil domain containing 55, isoform CRA_a", "gnomAD", "rs1485336216", "", "17q11.2", "17", "30179198", "T", "A", "F", "I", "83", "83", "", "missense", "0.997", "probably damaging", "0.01", "deleterious", "0", "", "", "", "", "", "" ], [ "Q9H0G5-1", "NSRP1", "Coiled-coil domain containing 55, isoform CRA_a", "ExAC,TOPMed,gnomAD", "rs756284687", "", "17q11.2", "17", "30179208", "A", "G", "K", "R", "86", "86", "", "missense", "0.997", "probably damaging", "0.0", "deleterious", "0", "", "", "", "", "", "" ], [ "Q9H0G5-1", "NSRP1", "Coiled-coil domain containing 55, isoform CRA_a", "ExAC,TOPMed,gnomAD", "rs753964711", "", "17q11.2", "17", "30179216", "T", "C", "F", "L", "89", "89", "", "missense", "0.985", "probably damaging", "0.0", "deleterious", "0", "", "", "", "", "", "" ], [ "Q9H0G5-1", "NSRP1", "Coiled-coil domain containing 55, isoform CRA_a", "TOPMed", "rs1403757698", "", "17q11.2", "17", "30179219", "G", "A", "V", "M", "90", "90", "", "missense", "1.0", "probably damaging", "0.0", "deleterious", "0", "", "", "", "", "", "" ], [ "Q9H0G5-1", "NSRP1", "Coiled-coil domain containing 55, isoform CRA_a", "ExAC,gnomAD", "rs779542980", "", "17q11.2", "17", "30179231", "T", "C", "Y", "H", "94", "94", "", "missense", "1.0", "probably damaging", "0.0", "deleterious", "0", "", "", "", "", "", "" ], [ "Q9H0G5-1", "NSRP1", "Coiled-coil domain containing 55, isoform CRA_a", "1000Genomes,ESP,ExAC,TOPMed,gnomAD", "rs149526911", "", "17q11.2", "17", "30179235", "A", "C", "K", "T", "95", "95", "9.98E-4", "missense", "0.998", "probably damaging", "0.0", "deleterious", "0", "", "", "", "", "", "" ], [ "Q9H0G5-1", "NSRP1", "Coiled-coil domain containing 55, isoform CRA_a", "ExAC,gnomAD", "rs777955554", "", "17q11.2", "17", "30179241", "A", "T", "K", "I", "97", "97", "", "missense", "0.999", "probably damaging", "0.0", "deleterious", "0", "", "", "", "", "", "" ], [ "Q9H0G5-1", "NSRP1", "Coiled-coil domain containing 55, isoform CRA_a", "gnomAD", "rs1357870337", "", "17q11.2", "17", "30179240", "A", "C", "K", "Q", "97", "97", "", "missense", "0.999", "probably damaging", "0.06", "deleterious, tolerated", "0", "", "", "", "", "", "" ], [ "Q9H0G5-1", "NSRP1", "Coiled-coil domain containing 55, isoform CRA_a", "TOPMed", "rs1468980485", "", "17q11.2", "17", "30179253", "G", "T", "R", "I", "101", "101", "", "missense", "0.963", "probably damaging", "0.065", "deleterious, tolerated", "0", "", "", "", "", "", "" ], [ "Q9H0G5-1", "NSRP1", "Coiled-coil domain containing 55, isoform CRA_a", "TOPMed", "rs1412328781", "", "17q11.2", "17", "30179254", "A", "T", "R", "S", "101", "101", "", "missense", "0.958", "probably damaging", "0.06", "deleterious, tolerated", "0", "", "", "", "", "", "" ], [ "Q9H0G5-1", "NSRP1", "Coiled-coil domain containing 55, isoform CRA_a", "ExAC,gnomAD", "rs745547815", "", "17q11.2", "17", "30179256", "C", "T", "A", "V", "102", "102", "", "missense", "0.993", "probably damaging", "0.07", "deleterious, deleterious - low confidence, tolerated", "0", "", "", "", "", "", "" ], [ "Q9H0G5-1", "NSRP1", "Coiled-coil domain containing 55, isoform CRA_a", "ExAC,TOPMed,gnomAD", "rs769611082", "", "17q11.2", "17", "30179258", "G", "C", "E", "Q", "103", "103", "", "missense", "0.998", "probably damaging", "0.04667", "deleterious, deleterious - low confidence, tolerated", "0", "", "", "", "", "", "" ], [ "Q9H0G5-1", "NSRP1", "Coiled-coil domain containing 55, isoform CRA_a", "ExAC,gnomAD", "rs775261703", "", "17q11.2", "17", "30179274", "A", "C", "E", "A", "108", "108", "", "missense", "0.985", "probably damaging", "0.065", "deleterious, tolerated", "0", "", "", "", "", "", "" ], [ "Q9H0G5-1", "NSRP1", "Coiled-coil domain containing 55, isoform CRA_a", "ExAC,TOPMed,gnomAD", "rs748866625", "", "17q11.2", "17", "30179281", "G", "T", "R", "S", "110", "110", "", "missense", "0.876", "possibly damaging", "0.01", "deleterious", "0", "", "", "", "", "", "" ], [ "Q9H0G5-1", "NSRP1", "Coiled-coil domain containing 55, isoform CRA_a", "ExAC,gnomAD", "rs774358124", "", "17q11.2", "17", "30179289", "C", "G", "A", "G", "113", "113", "", "missense", "0.993", "probably damaging", "0.18", "deleterious, tolerated", "0", "", "", "", "", "", "" ] ] }, "readme": "Name\n - Human Germline Mutation\n\nVersion\n - 1.5.27\n\nCreated on\n - 2020-04-03T17:17:42.572968\n\nModified on\n - 2020-04-03T17:41:28.937559\n\nCreated by\n - Jeet Vora [jeetvora@gwu.edu], Rahi Navelkar [rsn13@gwu.edu], Robel Kahsay [rykahsay@gwu.edu], Xavier Holmes [xavierh@email.gwu.edu]\n\nAuthors\n - Maria Martin [martin@ebi.ac.uk], Preethi Vasudev [pvasudev@ebi.ac.uk]\n\nChecksum\n - \n\nUsability Domain\n - The Human Germline Mutation dataset contains human [taxid:9606] germline mutation data from EBI Variant Data API. Only nonsynonymous single-nucleotide variations (nsSNVs) germline mutations are integrated. The dataset is from 2019-11 UniProtKB release .If you use this dataset provide proper attribution to GlyGen and EBI-EMBL-UniProtKB.\n\nDescription Domain\n Keywords\n - single-nucleotide variations (nsSNVs)\n - germline mutations\n - dbSNP\n - disease\n - ClinVar\n\n Pipeline Steps\n - Step-1: The script extracts the gernline (somatic_staus = 0) mutation data from the input file and maps the UniProtKB accession to the UniProtKB canonical accessions\n\nExecution Domain\n Scripts - https://github.com/GW-HIVE/glygen-backend-integration/blob/master/pipeline/integrator/make-protein-dataset.py\n\n\n Software Prerequisites\n Name: Python\n Version: 2.7.5\n URI: https://www.python.org/download/releases/2.7.5/\n\nI/O Domain\n Input Subdomain\n Name: dbSNP-homo-sapiens.tsv\n URI: https://data.glygen.org/ln2data/releases/data/v-1.5.27/source/dbSNP-homo-sapiens.tsv\n Name: human_protein_masterlist.csv\n URI: https://data.glygen.org/ln2data/releases/data/v-1.5.27/reviewed/human_protein_masterlist.csv\n Output Subdomain\n Name: human_protein_mutation_germline.csv\n URI: https://data.glygen.org/ln2data/releases/data/v-1.5.27/reviewed/human_protein_mutation_germline.csv\n Name: human_protein_mutation_germline.stat.csv\n URI: https://data.glygen.org/ln2data/releases/data/v-1.5.27/reviewed/human_protein_mutation_germline.stat.csv\n\nFields\n Name: \"alt_allele\"\n Description: \"Alternate allele\"\n Unique Values: \"9\"\n Name: \"uniprotkb_canonical_ac\"\n Description: \"Accession assigned to the protein isoform chosen to be the canonical sequence to which all positional annotation refers in UniProtKB database\"\n Unique Values: \"19520\"\n Name: \"somatic_status\"\n Description: \"The status of the variant whether it is germline (somatic status =0) or somatic (somatic status =1) variant\"\n Unique Values: \"1\"\n Name: \"end_aa_pos\"\n Description: \"End position of the amino acid in the sequence of a protein in UniProtKB\"\n Unique Values: \"34160\"\n Name: \"frequency\"\n Description: \"Global minor allele frequency (MAF): dbSNP is reporting the minor allele frequency for each rs included in a default global population. Since this is being provided to distinguish common polymorphism from rare variants\n Unique Values: \"2967\"\n Name: \"ref_allele\"\n Description: \"Reference allele\"\n Unique Values: \"4\"\n Name: \"dbsnp_id\"\n Description: \"A reference SNP ID number\n Unique Values: \"7193010\"\n Name: \"mim_id\"\n Description: \"Disease ID from the OMIM database\"\n Unique Values: \"3379\"\n Name: \"begin_aa_pos\"\n Description: \"Start position of the amino acid in the sequence of a protein in UniProtKB\"\n Unique Values: \"34159\"\n Name: \"cytogenic_band\"\n Description: \"One of the subregions of a chromosome visible microscopically after special staining\"\n Unique Values: \"803\"\n Name: \"mutation_type\"\n Description: \"Types of nonsynonymous substitution mutations\"\n Unique Values: \"6\"\n Name: \"ref_aa\"\n Description: \"Reference amino acid residue\"\n Unique Values: \"29\"\n Name: \"sift_score\"\n Description: \"SIFT predicts whether an amino acid substitution is likely to affect protein function based on sequence homology and the physico-chemical similarity between the alternate amino acids. The data we provide for each amino acid substitution is a score and a qualitative prediction (either 'tolerated' or 'deleterious'). The score is the normalized probability that the amino acid change is tolerated so scores nearer zero are more likely to be deleterious. The qualitative prediction is derived from this score such that substitutions with a score < 0.05 are called 'deleterious' and all others are called 'tolerated\"\n Unique Values: \"1520\"\n Name: \"polyphen_score\"\n Description: \"The score assigned to a amino acid substitution by a tool called as PolyPhen (=Polymorphism Phenotyping) which predicts possible impact of an amino acid substitution on the structure and function of a human protein using straightforward physical and comparative considerations. The PolyPhen score ranges from 0.0 (tolerated) to 1.0 (deleterious). Variants with scores of 0.0 are predicted to be benign. Values closer to 1.0 are more confidently predicted to be deleterious\"\n Unique Values: \"11912\"\n Name: \"polyphen_prediction\"\n Description: \"The PolyPhen prediction values are - greater than 0.908 - \"Probably Damaging\"; greater than 0.446 and less than or equal to 0.908 - \"Possibly Damaging\"; less than or equal to 0.446 - \"Benign\"\n Unique Values: \"16\"\n Name: \"protein_name\"\n Description: \"Protein name in the UniProtKB\"\n Unique Values: \"45964\"\n Name: \"disease_evidence_ECO:0000313\"\n Description: \"The evidence that could be a PMID or a ClinVar ID that associates disease with the variant\"\n Unique Values: \"130482\"\n Name: \"sift_prediction\"\n Description: \"The SIFT qualitative prediction is derived from this score such that substitutions with a score < 0.05 are called 'deleterious' and all others are called 'tolerated\"\n Unique Values: \"32\"\n Name: \"disease_description\"\n Description: \"The disease description and/or definition\"\n Unique Values: \"2622\"\n Name: \"do_id\"\n Description: \"Disease Ontology identifier\"\n Unique Values: \"3159\"\n Name: \"data_source\"\n Description: \"The source database for the data\"\n Unique Values: \"107\"\n Name: \"chromosome_id\"\n Description: \"Chromosome number identifier\"\n Unique Values: \"25\"\n Name: \"disease\"\n Description: \"The disease name for the cell line\"\n Unique Values: \"7623\"\n Name: \"alt_aa\"\n Description: \"Altered amino acid residue\"\n Unique Values: \"35\"\n Name: \"cosmic_id\"\n Description: \"Legacy mutation identifier (COSM) in Catalogue of Somatic Mutations in Cancer (COSMIC) represents existing COSM mutation identifiers. This identifier remains the same between different assemblies (GRCh37 and GRCh38). All the COSM ids at the same genomic location have been collapsed into one representative COSM id. These ids are maintained to help track existing mutations\"\n Unique Values: \"29756\"\n Name: \"position\"\n Description: \"Chromosome position of a gene\"\n Unique Values: \"7047237\"\n Name: \"gene_name\"\n Description: \"Official gene name/symbol assigned to the gene. Human gene names/symbols are approved by the HUGO Gene Nomenclature Committee (HGNC)\n Unique Values: \"19506\"\n Name: \"disease_evidence_ECO:0000269\"\n Description: \"The PMID evidence for the association of the disease with the variant.\"\n Unique Values: \"3429\"", "downloadurl": "/ln2data/releases/data/v-1.5.27/reviewed/human_protein_mutation_germline.csv" }