{ "bcoid": "GLY_000462", "title": "Human Somatic Mutation", "description": "The Human Somatic Mutation dataset contains human [taxid:9606] somatic mutation data from EBI Variant ...", "filename": "human_protein_mutation_somatic.csv", "filetype": "csv", "categories": { "species": "Homo sapiens", "molecule": "Protein", "tags": "Somatic Mutations", "file_type": "csv", "status": "Reviewed", "scope": "internal" }, "minitable": { "content": [ [ "Q96JB1-1...", "DNAH8..." ], [ "Q96JB1-1...", "DNAH8..." ] ], "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", "label": "chromosome_id" }, { "type": "string", "label": "position" }, { "type": "string", "label": "ref_allele" }, { "type": "string", "label": "alt_allele" }, { "type": "string", "label": "ref_aa" }, { "type": "string", "label": "alt_aa" }, { "type": "string", "label": "begin_aa_pos" }, { "type": "string", "label": "end_aa_pos" }, { "type": "string", "label": "frequency" }, { "type": "string", "label": "mutation_type" }, { "type": "string", "label": "polyphen_score" }, { "type": "string", "label": "polyphen_prediction" }, { "type": "string", "label": "sift_score" }, { "type": "string", "label": "sift_prediction" }, { "type": "string", "label": "somatic_status" }, { "type": "string", "label": "disease" }, { "type": "string", "label": "disease_description" }, { "type": "string", "label": "disease_evidence_ECO:0000269" }, { "type": "string", "label": "disease_evidence_ECO:0000313" }, { "type": "string", "label": "mim_id" }, { "type": "string", "label": "do_id" } ], [ "Q96JB1-1", "DNAH8", "Dynein heavy chain 8, axonemal", "1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD", "rs142863013", "", "6p21.2", "6", "38734588", "G", "A", "R", "H", "242", "242", "5.99E-4", "missense", "0.001", "benign", "0.12", "tolerated", "1", "Primary ciliary dyskinesia (PCD)", "Primary ciliary dyskinesia (PCD) is associated with situs abnormalities, abnormal sperm motility, and abnormal ciliary structure and function that result in retention of mucus and bacteria in the respiratory tract leading to chronic otosinopulmonary disease.", "", "pubmed:20301301,ClinVar:RCV000232124", "244400", "9562" ], [ "Q96JB1-1", "DNAH8", "Dynein heavy chain 8, axonemal", "1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD", "rs142863013", "", "6p21.2", "6", "38734588", "G", "A", "R", "H", "242", "242", "5.99E-4", "missense", "0.001", "benign", "0.12", "tolerated", "1", "Primary ciliary dyskinesia (PCD)", "Primary ciliary dyskinesia (PCD) is associated with situs abnormalities, abnormal sperm motility, and abnormal ciliary structure and function that result in retention of mucus and bacteria in the respiratory tract leading to chronic otosinopulmonary disease.", "", "pubmed:20301301,ClinVar:RCV000232124", "244400", "0110594" ], [ "Q96JB1-1", "DNAH8", "Dynein heavy chain 8, axonemal", "ESP,ExAC,TOPMed,dbSNP,gnomAD", "rs370751861", "", "6p21.2", "6", "38741786", "C", "T", "R", "C", "398", "398", "", "missense", "0.349", "benign, possibly damaging", "0.135", "tolerated", "1", "Primary ciliary dyskinesia (PCD)", "Primary ciliary dyskinesia (PCD) is associated with situs abnormalities, abnormal sperm motility, and abnormal ciliary structure and function that result in retention of mucus and bacteria in the respiratory tract leading to chronic otosinopulmonary disease.", "", "pubmed:20301301,ClinVar:RCV000234614", "244400", "9562" ], [ "Q96JB1-1", "DNAH8", "Dynein heavy chain 8, axonemal", "ESP,ExAC,TOPMed,dbSNP,gnomAD", "rs370751861", "", "6p21.2", "6", "38741786", "C", "T", "R", "C", "398", "398", "", "missense", "0.349", "benign, possibly damaging", "0.135", "tolerated", "1", "Primary ciliary dyskinesia (PCD)", "Primary ciliary dyskinesia (PCD) is associated with situs abnormalities, abnormal sperm motility, and abnormal ciliary structure and function that result in retention of mucus and bacteria in the respiratory tract leading to chronic otosinopulmonary disease.", "", "pubmed:20301301,ClinVar:RCV000234614", "244400", "0110594" ], [ "Q96JB1-1", "DNAH8", "Dynein heavy chain 8, axonemal", "ExAC,TOPMed,dbSNP,gnomAD", "rs755566659", "", "6p21.2", "6", "38807673", "C", "T", "R", "W", "1072", "1072", "", "missense", "0.7925", "possibly damaging, probably damaging", "0.01", "deleterious", "1", "Primary ciliary dyskinesia (PCD)", "Primary ciliary dyskinesia (PCD) is associated with situs abnormalities, abnormal sperm motility, and abnormal ciliary structure and function that result in retention of mucus and bacteria in the respiratory tract leading to chronic otosinopulmonary disease.", "", "pubmed:20301301,ClinVar:RCV000629475", "244400", "9562" ], [ "Q96JB1-1", "DNAH8", "Dynein heavy chain 8, axonemal", "ExAC,TOPMed,dbSNP,gnomAD", "rs755566659", "", "6p21.2", "6", "38807673", "C", "T", "R", "W", "1072", "1072", "", "missense", "0.7925", "possibly damaging, probably damaging", "0.01", "deleterious", "1", "Primary ciliary dyskinesia (PCD)", "Primary ciliary dyskinesia (PCD) is associated with situs abnormalities, abnormal sperm motility, and abnormal ciliary structure and function that result in retention of mucus and bacteria in the respiratory tract leading to chronic otosinopulmonary disease.", "", "pubmed:20301301,ClinVar:RCV000629475", "244400", "0110594" ], [ "Q96JB1-1", "DNAH8", "Dynein heavy chain 8, axonemal", "1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD", "rs145309531", "", "6p21.2", "6", "38832398", "G", "A", "R", "H", "1422", "1422", "0.008387", "missense", "0.441", "benign", "0.63", "tolerated", "1", "Primary ciliary dyskinesia (PCD)", "Primary ciliary dyskinesia (PCD) is associated with situs abnormalities, abnormal sperm motility, and abnormal ciliary structure and function that result in retention of mucus and bacteria in the respiratory tract leading to chronic otosinopulmonary disease.", "", "pubmed:20301301,ClinVar:RCV000231333", "244400", "9562" ], [ "Q96JB1-1", "DNAH8", "Dynein heavy chain 8, axonemal", "1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD", "rs145309531", "", "6p21.2", "6", "38832398", "G", "A", "R", "H", "1422", "1422", "0.008387", "missense", "0.441", "benign", "0.63", "tolerated", "1", "Primary ciliary dyskinesia (PCD)", "Primary ciliary dyskinesia (PCD) is associated with situs abnormalities, abnormal sperm motility, and abnormal ciliary structure and function that result in retention of mucus and bacteria in the respiratory tract leading to chronic otosinopulmonary disease.", "", "pubmed:20301301,ClinVar:RCV000231333", "244400", "0110594" ], [ "Q96JB1-1", "DNAH8", "Dynein heavy chain 8, axonemal", "1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD", "rs78877915", "", "6p21.2", "6", "38842667", "C", "T", "R", "C", "1537", "1537", "5.99E-4", "missense", "0.65733", "benign, possibly damaging, probably damaging", "0.01", "deleterious", "1", "Primary ciliary dyskinesia (PCD)", "Primary ciliary dyskinesia (PCD) is associated with situs abnormalities, abnormal sperm motility, and abnormal ciliary structure and function that result in retention of mucus and bacteria in the respiratory tract leading to chronic otosinopulmonary disease.", "", "pubmed:20301301,ClinVar:RCV000550296", "244400", "9562" ], [ "Q96JB1-1", "DNAH8", "Dynein heavy chain 8, axonemal", "1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD", "rs78877915", "", "6p21.2", "6", "38842667", "C", "T", "R", "C", "1537", "1537", "5.99E-4", "missense", "0.65733", "benign, possibly damaging, probably damaging", "0.01", "deleterious", "1", "Primary ciliary dyskinesia (PCD)", "Primary ciliary dyskinesia (PCD) is associated with situs abnormalities, abnormal sperm motility, and abnormal ciliary structure and function that result in retention of mucus and bacteria in the respiratory tract leading to chronic otosinopulmonary disease.", "", "pubmed:20301301,ClinVar:RCV000550296", "244400", "0110594" ], [ "Q96JB1-1", "DNAH8", "Dynein heavy chain 8, axonemal", "ESP,ExAC,TOPMed,dbSNP,gnomAD", "rs375507271", "", "6p21.2", "6", "38842668", "G", "A", "R", "H", "1537", "1537", "", "missense", "0.352", "benign, possibly damaging", "0.02", "deleterious", "1", "Primary ciliary dyskinesia (PCD)", "Primary ciliary dyskinesia (PCD) is associated with situs abnormalities, abnormal sperm motility, and abnormal ciliary structure and function that result in retention of mucus and bacteria in the respiratory tract leading to chronic otosinopulmonary disease.", "", "pubmed:20301301,ClinVar:RCV000468987", "244400", "9562" ], [ "Q96JB1-1", "DNAH8", "Dynein heavy chain 8, axonemal", "ESP,ExAC,TOPMed,dbSNP,gnomAD", "rs375507271", "", "6p21.2", "6", "38842668", "G", "A", "R", "H", "1537", "1537", "", "missense", "0.352", "benign, possibly damaging", "0.02", "deleterious", "1", "Primary ciliary dyskinesia (PCD)", "Primary ciliary dyskinesia (PCD) is associated with situs abnormalities, abnormal sperm motility, and abnormal ciliary structure and function that result in retention of mucus and bacteria in the respiratory tract leading to chronic otosinopulmonary disease.", "", "pubmed:20301301,ClinVar:RCV000468987", "244400", "0110594" ], [ "Q96JB1-1", "DNAH8", "Dynein heavy chain 8, axonemal", "ESP,ExAC,TOPMed,dbSNP,gnomAD", "rs138892245", "", "6p21.2", "6", "38857692", "G", "A", "E", "K", "1970", "1970", "", "missense", "1.0", "probably damaging", "0.0", "deleterious", "1", "Primary ciliary dyskinesia (PCD)", "Primary ciliary dyskinesia (PCD) is associated with situs abnormalities, abnormal sperm motility, and abnormal ciliary structure and function that result in retention of mucus and bacteria in the respiratory tract leading to chronic otosinopulmonary disease.", "", "pubmed:20301301,ClinVar:RCV000560886", "244400", "9562" ], [ "Q96JB1-1", "DNAH8", "Dynein heavy chain 8, axonemal", "ESP,ExAC,TOPMed,dbSNP,gnomAD", "rs138892245", "", "6p21.2", "6", "38857692", "G", "A", "E", "K", "1970", "1970", "", "missense", "1.0", "probably damaging", "0.0", "deleterious", "1", "Primary ciliary dyskinesia (PCD)", "Primary ciliary dyskinesia (PCD) is associated with situs abnormalities, abnormal sperm motility, and abnormal ciliary structure and function that result in retention of mucus and bacteria in the respiratory tract leading to chronic otosinopulmonary disease.", "", "pubmed:20301301,ClinVar:RCV000560886", "244400", "0110594" ], [ "Q96JB1-1", "DNAH8", "Dynein heavy chain 8, axonemal", "ESP,ExAC,TOPMed,dbSNP,gnomAD", "rs200037660", "", "6p21.2", "6", "38862285", "A", "G", "Y", "C", "2046", "2046", "", "missense", "1.0", "probably damaging", "0.0", "deleterious", "1", "Primary ciliary dyskinesia (PCD)", "Primary ciliary dyskinesia (PCD) is associated with situs abnormalities, abnormal sperm motility, and abnormal ciliary structure and function that result in retention of mucus and bacteria in the respiratory tract leading to chronic otosinopulmonary disease.", "", "pubmed:20301301,ClinVar:RCV000534499", "244400", "9562" ], [ "Q96JB1-1", "DNAH8", "Dynein heavy chain 8, axonemal", "ESP,ExAC,TOPMed,dbSNP,gnomAD", "rs200037660", "", "6p21.2", "6", "38862285", "A", "G", "Y", "C", "2046", "2046", "", "missense", "1.0", "probably damaging", "0.0", "deleterious", "1", "Primary ciliary dyskinesia (PCD)", "Primary ciliary dyskinesia (PCD) is associated with situs abnormalities, abnormal sperm motility, and abnormal ciliary structure and function that result in retention of mucus and bacteria in the respiratory tract leading to chronic otosinopulmonary disease.", "", "pubmed:20301301,ClinVar:RCV000534499", "244400", "0110594" ], [ "Q96JB1-1", "DNAH8", "Dynein heavy chain 8, axonemal", "1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD", "rs143707632", "", "6p21.2", "6", "38896154", "C", "T", "R", "C", "2957", "2957", "2.0E-4", "missense", "0.5495", "benign, probably damaging", "0.0", "deleterious", "1", "Primary ciliary dyskinesia (PCD)", "Primary ciliary dyskinesia (PCD) is associated with situs abnormalities, abnormal sperm motility, and abnormal ciliary structure and function that result in retention of mucus and bacteria in the respiratory tract leading to chronic otosinopulmonary disease.", "", "pubmed:20301301,ClinVar:RCV000459200", "244400", "9562" ], [ "Q96JB1-1", "DNAH8", "Dynein heavy chain 8, axonemal", "1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD", "rs143707632", "", "6p21.2", "6", "38896154", "C", "T", "R", "C", "2957", "2957", "2.0E-4", "missense", "0.5495", "benign, probably damaging", "0.0", "deleterious", "1", "Primary ciliary dyskinesia (PCD)", "Primary ciliary dyskinesia (PCD) is associated with situs abnormalities, abnormal sperm motility, and abnormal ciliary structure and function that result in retention of mucus and bacteria in the respiratory tract leading to chronic otosinopulmonary disease.", "", "pubmed:20301301,ClinVar:RCV000459200", "244400", "0110594" ], [ "Q96JB1-1", "DNAH8", "Dynein heavy chain 8, axonemal", "1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD", "rs144808884", "", "6p21.2", "6", "38973791", "G", "A", "R", "Q", "4219", "4219", "2.0E-4", "missense", "0.006", "benign", "0.88", "tolerated", "1", "Primary ciliary dyskinesia (PCD)", "Primary ciliary dyskinesia (PCD) is associated with situs abnormalities, abnormal sperm motility, and abnormal ciliary structure and function that result in retention of mucus and bacteria in the respiratory tract leading to chronic otosinopulmonary disease.", "", "pubmed:20301301,ClinVar:RCV000457897", "244400", "9562" ], [ "Q96JB1-1", "DNAH8", "Dynein heavy chain 8, axonemal", "1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD", "rs144808884", "", "6p21.2", "6", "38973791", "G", "A", "R", "Q", "4219", "4219", "2.0E-4", "missense", "0.006", "benign", "0.88", "tolerated", "1", "Primary ciliary dyskinesia (PCD)", "Primary ciliary dyskinesia (PCD) is associated with situs abnormalities, abnormal sperm motility, and abnormal ciliary structure and function that result in retention of mucus and bacteria in the respiratory tract leading to chronic otosinopulmonary disease.", "", "pubmed:20301301,ClinVar:RCV000457897", "244400", "0110594" ], [ "Q96JB1-1", "DNAH8", "Dynein heavy chain 8, axonemal", "1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD", "rs78849281", "", "6p21.2", "6", "39012311", "C", "T", "R", "C", "4490", "4490", "0.01158", "missense", "1.0", "probably damaging", "0.0", "deleterious", "1", "Primary ciliary dyskinesia (PCD)", "Primary ciliary dyskinesia (PCD) is associated with situs abnormalities, abnormal sperm motility, and abnormal ciliary structure and function that result in retention of mucus and bacteria in the respiratory tract leading to chronic otosinopulmonary disease.", "", "pubmed:20301301,ClinVar:RCV000228271", "244400", "9562" ], [ "Q96JB1-1", "DNAH8", "Dynein heavy chain 8, axonemal", "1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD", "rs78849281", "", "6p21.2", "6", "39012311", "C", "T", "R", "C", "4490", "4490", "0.01158", "missense", "1.0", "probably damaging", "0.0", "deleterious", "1", "Primary ciliary dyskinesia (PCD)", "Primary ciliary dyskinesia (PCD) is associated with situs abnormalities, abnormal sperm motility, and abnormal ciliary structure and function that result in retention of mucus and bacteria in the respiratory tract leading to chronic otosinopulmonary disease.", "", "pubmed:20301301,ClinVar:RCV000228271", "244400", "0110594" ], [ "Q96JB1-1", "DNAH8", "Dynein heavy chain 8, axonemal", "Ensembl,dbSNP", "rs1554166182", "", "6p21.2", "6", "39026623", "G", "A", "E", "K", "4598", "4598", "", "missense", "0.133", "benign", "0.09", "tolerated", "1", "Primary ciliary dyskinesia (PCD)", "Primary ciliary dyskinesia (PCD) is associated with situs abnormalities, abnormal sperm motility, and abnormal ciliary structure and function that result in retention of mucus and bacteria in the respiratory tract leading to chronic otosinopulmonary disease.", "", "pubmed:20301301,ClinVar:RCV000549554", "244400", "9562" ], [ "Q96JB1-1", "DNAH8", "Dynein heavy chain 8, axonemal", "Ensembl,dbSNP", "rs1554166182", "", "6p21.2", "6", "39026623", "G", "A", "E", "K", "4598", "4598", "", "missense", "0.133", "benign", "0.09", "tolerated", "1", "Primary ciliary dyskinesia (PCD)", "Primary ciliary dyskinesia (PCD) is associated with situs abnormalities, abnormal sperm motility, and abnormal ciliary structure and function that result in retention of mucus and bacteria in the respiratory tract leading to chronic otosinopulmonary disease.", "", "pubmed:20301301,ClinVar:RCV000549554", "244400", "0110594" ], [ "P11532-1", "DMD", "Dystrophin", "Ensembl,dbSNP", "rs751368412", "COSM1557741", "Xp21.1", "X", "32699212", "C", "T", "S", "N", "244", "244", "", "missense", "0.061", "benign", "0.01", "deleterious", "1", "Duchenne muscular dystrophy (DMD)", "The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM).", "", "pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630520", "310200", "11723" ], [ "P11532-1", "DMD", "Dystrophin", "Ensembl,dbSNP", "rs128626239", "COSM1557744", "Xp21.1", "X", "32699195", "C", "A", "E", "*", "250", "250", "", "missense", "", "", "", "", "1", "Duchenne muscular dystrophy (DMD)", "The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM).", "", "pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000011994", "310200", "11723" ], [ "P11532-1", "DMD", "Dystrophin", "Ensembl,dbSNP", "rs128626244", "COSM1599324", "Xp21.1", "X", "32501818", "T", "C", "K", "E", "773", "773", "", "missense", "0.94", "possibly damaging, probably damaging", "0.0", "deleterious", "1", "Duchenne muscular dystrophy (DMD)", "The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM).", "", "pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000012002", "310200", "11723" ], [ "P11532-1", "DMD", "Dystrophin", "dbSNP,gnomAD", "rs1060502639", "", "Xp21.1", "X", "32485057", "G", "A", "R", "*", "889", "889", "", "missense", "", "", "", "", "1", "Duchenne muscular dystrophy (DMD)", "The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM).", "", "pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000474172", "310200", "11723" ], [ "P11532-1", "DMD", "Dystrophin", "Ensembl,dbSNP", "rs794727380", "COSM1714828", "Xp21.1", "X", "32468559", "G", "A", "S", "F", "1034", "1034", "", "missense", "0.336", "benign", "0.06", "tolerated", "1", "Duchenne muscular dystrophy (DMD)", "The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM).", "", "pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000818943", "310200", "11723" ], [ "P11532-1", "DMD", "Dystrophin", "ESP,ExAC,TOPMed,dbSNP,gnomAD", "rs151150099", "COSM1467597", "Xp21.1", "X", "32441296", "G", "A", "H", "Y", "1269", "1269", "", "missense", "0.099", "benign", "0.15", "tolerated", "1", "Duchenne muscular dystrophy (DMD)", "The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM).", "", "pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630519", "310200", "11723" ], [ "P11532-1", "DMD", "Dystrophin", "Ensembl,dbSNP", "rs5030730", "COSM1467594", "Xp21.1", "X", "32438372", "G", "A", "R", "*", "1314", "1314", "", "missense", "", "", "", "", "1", "Duchenne muscular dystrophy (DMD)", "The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM).", "", "pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000012034,pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201024", "300376", "9883" ], [ "P11532-1", "DMD", "Dystrophin", "Ensembl,dbSNP", "rs5030730", "COSM1467594", "Xp21.1", "X", "32438372", "G", "A", "R", "*", "1314", "1314", "", "missense", "", "", "", "", "1", "Duchenne muscular dystrophy (DMD)", "The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM).", "", "pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000012034,pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201024", "310200", "11723" ], [ "P11532-1", "DMD", "Dystrophin", "ExAC,dbSNP,gnomAD", "rs768990357", "COSM1599337", "Xp21.1", "X", "32438341", "C", "T", "R", "H", "1324", "1324", "", "missense", "0.958", "probably damaging", "0.0", "deleterious", "1", "Duchenne muscular dystrophy (DMD)", "The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM).", "", "pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000536434", "310200", "11723" ], [ "P11532-1", "DMD", "Dystrophin", "Ensembl,dbSNP", "rs398123953", "COSM1714817", "Xp21.1", "X", "32389644", "G", "A", "R", "*", "1459", "1459", "", "missense", "", "", "", "", "1", "Duchenne muscular dystrophy (DMD)", "The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM).", "", "pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201013", "310200", "11723" ], [ "P11532-1", "DMD", "Dystrophin", "Ensembl,dbSNP", "rs1557320151", "COSM1682506", "Xp21.1", "X", "32386366", "C", "A", "E", "*", "1540", "1540", "", "missense", "", "", "", "", "1", "Duchenne muscular dystrophy (DMD)", "The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM).", "", "pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000820684", "310200", "11723" ], [ "P11532-1", "DMD", "Dystrophin", "Ensembl,dbSNP", "rs863224999", "COSM1599343", "Xp21.1", "X", "32380626", "G", "A", "R", "*", "1577", "1577", "", "missense", "", "", "", "", "1", "Duchenne muscular dystrophy (DMD)", "The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM).", "", "pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201158", "310200", "11723" ], [ "P11532-1", "DMD", "Dystrophin", "ExAC,TOPMed,dbSNP,gnomAD", "rs1064325", "COSM3424738", "Xp21.1", "X", "32345999", "G", "A", "R", "*", "1844", "1844", "", "missense", "", "", "", "", "1", "Duchenne muscular dystrophy (DMD)", "The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM).", "", "pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000178001", "310200", "11723" ], [ "P11532-1", "DMD", "Dystrophin", "ExAC,dbSNP,gnomAD", "rs128626249", "COSM1467574", "Xp21.1", "X", "32342123", "G", "A", "R", "*", "1967", "1967", "", "missense", "", "", "", "", "1", "Duchenne muscular dystrophy (DMD)", "The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM).", "", "pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000012009", "310200", "11723" ], [ "P11532-1", "DMD", "Dystrophin", "dbSNP,gnomAD", "rs1241760732", "COSM1557855", "Xp21.1", "X", "32310253", "C", "T", "M", "I", "1982", "1982", "", "missense", "0.0", "benign", "0.44", "tolerated", "1", "Duchenne muscular dystrophy (DMD)", "The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM).", "", "pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000531367", "310200", "11723" ], [ "P11532-1", "DMD", "Dystrophin", "ESP,ExAC,TOPMed,dbSNP,gnomAD", "rs140791274", "COSM1151606", "Xp21.1", "X", "32287668", "G", "A", "R", "W", "2051", "2051", "", "missense", "0.764", "possibly damaging", "0.01", "deleterious", "1", "Duchenne muscular dystrophy (DMD)", "The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM).", "", "pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000459246", "310200", "11723" ], [ "P11532-1", "DMD", "Dystrophin", "Ensembl,dbSNP", "rs128626250", "", "Xp21.1", "X", "32217062", "G", "A", "R", "*", "2098", "2098", "", "missense", "", "", "", "", "1", "Duchenne muscular dystrophy (DMD)", "The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM).", "", "pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000012011", "310200", "11723" ], [ "P11532-1", "DMD", "Dystrophin", "TOPMed,dbSNP,gnomAD", "rs1057519106", "COSM1644015", "Xp21.1", "X", "31836731", "G", "A", "T", "I", "2396", "2396", "", "missense", "0.439", "benign, probably damaging", "0.12667", "deleterious - low confidence, tolerated", "1", "Duchenne muscular dystrophy (DMD)", "The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM).", "", "pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000457466", "310200", "11723" ], [ "P11532-1", "DMD", "Dystrophin", "Ensembl,dbSNP", "rs398124050", "COSM1599374", "Xp21.1", "X", "31729634", "G", "A", "R", "*", "2553", "2553", "", "missense", "", "", "", "", "1", "Duchenne muscular dystrophy (DMD)", "The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM).", "", "pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000797219", "310200", "11723" ], [ "P11532-1", "DMD", "Dystrophin", "Ensembl,dbSNP", "rs886039785", "COSM1682489", "Xp21.2", "X", "31496876", "C", "T", "W", "*", "2820", "2820", "", "missense", "", "", "", "", "1", "Duchenne muscular dystrophy (DMD)", "The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM).", "", "pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000256452", "310200", "11723" ], [ "P11532-1", "DMD", "Dystrophin", "Ensembl,dbSNP", "rs398124074", "COSM1599216", "Xp21.2", "X", "31479043", "G", "A", "R", "*", "2870", "2870", "", "missense", "", "", "", "", "1", "Duchenne muscular dystrophy (DMD)", "The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM).", "", "pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000179204", "310200", "11723" ], [ "P11532-1", "DMD", "Dystrophin", "1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD", "rs148643665", "", "Xp21.2", "X", "31444582", "C", "T", "V", "I", "2995", "2995", "2.65E-4", "missense", "0.22467", "benign, possibly damaging", "0.05", "deleterious, tolerated", "1", "Duchenne muscular dystrophy (DMD)", "The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM).", "", "pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000541472", "310200", "11723" ], [ "P11532-1", "DMD", "Dystrophin", "Ensembl,dbSNP", "rs104894787", "COSM3424728", "Xp21.2", "X", "31178784", "G", "A", "R", "*", "3370", "3370", "", "missense", "", "", "", "", "1", "Duchenne muscular dystrophy (DMD)", "The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM).", "", "pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000180033,pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000011964", "300376", "9883" ], [ "P11532-1", "DMD", "Dystrophin", "Ensembl,dbSNP", "rs104894787", "COSM3424728", "Xp21.2", "X", "31178784", "G", "A", "R", "*", "3370", "3370", "", "missense", "", "", "", "", "1", "Duchenne muscular dystrophy (DMD)", "The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM).", "", "pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000180033,pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000011964", "310200", "11723" ], [ "P11532-1", "DMD", "Dystrophin", "Ensembl,dbSNP", "rs104894790", "COSM1203824", "Xp21.2", "X", "31178751", "G", "A", "R", "*", "3381", "3381", "", "missense", "", "", "", "", "1", "Duchenne muscular dystrophy (DMD)", "The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM).", "", "pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000012024", "310200", "11723" ], [ "P82279-1", "CRB1", "Protein crumbs homolog 1", "ExAC,dbSNP,gnomAD", "rs776591659", "", "1q31.3", "1", "197427873", "G", "A", "G", "S", "231", "231", "", "missense", "1.0", "probably damaging", "0.0", "deleterious", "1", "Retinitis pigmentosa 12 (RP12)", "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP12 is an autosomal recessive, severe form often manifesting in early childhood. Patients experiment progressive visual field loss with severe visual impairment before the age of twenty. Some patients have a preserved paraarteriolar retinal pigment epithelium (PPRPE) and hypermetropia.", "pubmed:11231775,pubmed:11389483,pubmed:12567265,pubmed:12573663,pubmed:12700176,pubmed:12843338,pubmed:15024725,pubmed:15459956,pubmed:15691574,pubmed:16205573,pubmed:16936081,pubmed:17128490,pubmed:17438615,pubmed:17724218,pubmed:18055821,pubmed:18682808,pubmed:20108431,pubmed:20956273,pubmed:21602930,pubmed:28819299,pubmed:10508521,pubmed:11389483,pubmed:11559858,pubmed:12573663,pubmed:12843338,pubmed:15459956,pubmed:19140180,pubmed:19956407,pubmed:20591486,pubmed:20956273,pubmed:21987686,pubmed:22065545,pubmed:22128245,pubmed:22334370,pubmed:28819299", "", "613835", "0110079" ], [ "P82279-1", "CRB1", "Protein crumbs homolog 1", "ExAC,dbSNP,gnomAD", "rs776591659", "", "1q31.3", "1", "197427873", "G", "A", "G", "S", "231", "231", "", "missense", "1.0", "probably damaging", "0.0", "deleterious", "1", "Retinitis pigmentosa 12 (RP12)", "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP12 is an autosomal recessive, severe form often manifesting in early childhood. Patients experiment progressive visual field loss with severe visual impairment before the age of twenty. Some patients have a preserved paraarteriolar retinal pigment epithelium (PPRPE) and hypermetropia.", "pubmed:11231775,pubmed:11389483,pubmed:12567265,pubmed:12573663,pubmed:12700176,pubmed:12843338,pubmed:15024725,pubmed:15459956,pubmed:15691574,pubmed:16205573,pubmed:16936081,pubmed:17128490,pubmed:17438615,pubmed:17724218,pubmed:18055821,pubmed:18682808,pubmed:20108431,pubmed:20956273,pubmed:21602930,pubmed:28819299,pubmed:10508521,pubmed:11389483,pubmed:11559858,pubmed:12573663,pubmed:12843338,pubmed:15459956,pubmed:19140180,pubmed:19956407,pubmed:20591486,pubmed:20956273,pubmed:21987686,pubmed:22065545,pubmed:22128245,pubmed:22334370,pubmed:28819299", "", "600105", "0110358" ], [ "P82279-1", "CRB1", "Protein crumbs homolog 1", "ExAC,TOPMed,dbSNP,gnomAD", "rs62636275", "", "1q31.3", "1", "197435170", "G", "A", "G", "R", "484", "484", "", "missense", "0.906", "possibly damaging, probably damaging", "0.0", "deleterious", "1", "Retinitis pigmentosa 12 (RP12)", "", "", "ClinVar:RCV000786009,pubmed:20301475,pubmed:30285347,ClinVar:RCV000006093,ClinVar:RCV000648818,pubmed:20301590,ClinVar:RCV000006094,ClinVar:RCV000648818", "613835", "0110079" ], [ "P82279-1", "CRB1", "Protein crumbs homolog 1", "ExAC,TOPMed,dbSNP,gnomAD", "rs62636275", "", "1q31.3", "1", "197435170", "G", "A", "G", "R", "484", "484", "", "missense", "0.906", "possibly damaging, probably damaging", "0.0", "deleterious", "1", "Retinitis pigmentosa 12 (RP12)", "", "", "ClinVar:RCV000786009,pubmed:20301475,pubmed:30285347,ClinVar:RCV000006093,ClinVar:RCV000648818,pubmed:20301590,ClinVar:RCV000006094,ClinVar:RCV000648818", "600105", "0110358" ], [ "P82279-1", "CRB1", "Protein crumbs homolog 1", "1000Genomes,ExAC,TOPMed,dbSNP,gnomAD", "rs574742644", "", "1q31.3", "1", "197435476", "G", "A", "G", "R", "586", "586", "2.0E-4", "missense", "1.0", "probably damaging", "0.02", "deleterious", "1", "Leber congenital amaurosis 8 (LCA8)", "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.", "pubmed:11231775,pubmed:11389483,pubmed:12567265,pubmed:12573663,pubmed:12700176,pubmed:12843338,pubmed:15024725,pubmed:15459956,pubmed:15691574,pubmed:16205573,pubmed:16936081,pubmed:17128490,pubmed:17438615,pubmed:17724218,pubmed:18055821,pubmed:18682808,pubmed:20108431,pubmed:20956273,pubmed:21602930,pubmed:28819299", "", "613835", "0110079" ], [ "P15884-1", "TCF4", "Transcription factor 4 (Fragment)", "1000Genomes,ExAC,TOPMed,dbSNP,gnomAD", "rs532294589", "", "18q21.2", "18", "55461083", "C", "T", "M", "I", "56", "56", "3.99E-4", "missense", "0.089", "benign", "0.115", "deleterious, tolerated", "1", "Pitt-Hopkins syndrome (PTHS)", "Pitt-Hopkins syndrome (PTHS) is characterized by significant developmental delays with moderate-to-severe intellectual disability and behavioral differences, characteristic facial features, and episodic hyperventilation and/or breath-holding while awake.", "", "pubmed:22934316,ClinVar:RCV000556839", "610954", "0060488" ], [ "P15884-1", "TCF4", "Transcription factor 4 (Fragment)", "Ensembl,dbSNP", "rs587784464", "", "18q21.2", "18", "55350904", "G", "A", "R", "*", "133", "133", "", "missense", "", "", "", "", "1", "Pitt-Hopkins syndrome (PTHS)", "Pitt-Hopkins syndrome (PTHS) is characterized by significant developmental delays with moderate-to-severe intellectual disability and behavioral differences, characteristic facial features, and episodic hyperventilation and/or breath-holding while awake.", "", "pubmed:22934316,ClinVar:RCV000147723", "610954", "0060488" ], [ "P15884-1", "TCF4", "Transcription factor 4 (Fragment)", "Ensembl,dbSNP", "rs878853149", "COSM989042", "18q21.2", "18", "55350388", "G", "A", "R", "*", "150", "150", "", "missense", "-1.0", "unknown", "-1.0", "unknown", "1", "Pitt-Hopkins syndrome (PTHS)", "Pitt-Hopkins syndrome (PTHS) is characterized by significant developmental delays with moderate-to-severe intellectual disability and behavioral differences, characteristic facial features, and episodic hyperventilation and/or breath-holding while awake.", "", "pubmed:22934316,ClinVar:RCV000795184", "610954", "0060488" ], [ "O00623-1", "PEX12", "Peroxisome assembly protein 12", "ExAC,TOPMed,dbSNP,gnomAD", "rs61752103", "", "17q12", "17", "35577180", "G", "A", "R", "*", "180", "180", "", "missense", "", "", "", "", "1", "Peroxisome biogenesis disorder 3A (PBD3A)", "The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis.", "", "pubmed:20301621,ClinVar:RCV000666018,ClinVar:RCV000032926,ClinVar:RCV000008216,ClinVar:RCV000666018", "266510", "10582" ], [ "O00623-1", "PEX12", "Peroxisome assembly protein 12", "ExAC,TOPMed,dbSNP,gnomAD", "rs61752103", "", "17q12", "17", "35577180", "G", "A", "R", "*", "180", "180", "", "missense", "", "", "", "", "1", "Peroxisome biogenesis disorder 3A (PBD3A)", "The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis.", "", "pubmed:20301621,ClinVar:RCV000666018,ClinVar:RCV000032926,ClinVar:RCV000008216,ClinVar:RCV000666018", "614859", "0080478" ], [ "O15146-1", "MUSK", "Muscle, skeletal receptor tyrosine-protein kinase", "1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD", "rs34115159", "", "9q31.3", "9", "110800951", "G", "A", "R", "H", "850", "850", "", "missense", "0.998", "probably damaging", "0.01", "deleterious", "1", "Pena-Shokeir syndrome type I (FADS1)", "", "", "pubmed:20301347,ClinVar:RCV000543413,ClinVar:RCV000543413", "616325", "0110670" ], [ "O15146-1", "MUSK", "Muscle, skeletal receptor tyrosine-protein kinase", "1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD", "rs34115159", "", "9q31.3", "9", "110800951", "G", "A", "R", "H", "850", "850", "", "missense", "0.998", "probably damaging", "0.01", "deleterious", "1", "Pena-Shokeir syndrome type I (FADS1)", "", "", "pubmed:20301347,ClinVar:RCV000543413,ClinVar:RCV000543413", "208150", "0111375" ], [ "O15146-1", "MUSK", "Muscle, skeletal receptor tyrosine-protein kinase", "1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD", "rs34115159", "", "9q31.3", "9", "110800951", "G", "A", "R", "H", "850", "850", "", "missense", "0.998", "probably damaging", "0.01", "deleterious", "1", "Pena-Shokeir syndrome type I (FADS1)", "", "", "pubmed:20301347,ClinVar:RCV000543413,ClinVar:RCV000543413", "208150", "0111377" ], [ "P04637-1", "TP53", "Cellular tumor antigen p53", "Ensembl,dbSNP", "rs786203436", "", "17p13.1", "17", "7675125", "A", "C", "Y", "D", "4", "4", "", "missense", "1.0", "probably damaging", "0.0", "deleterious", "1", "Uterine Carcinosarcoma", "", "", "ClinVar:RCV000434903,ClinVar:RCV000420721,pubmed:25394175,ClinVar:RCV000166739,pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000424608,pubmed:24493721,ClinVar:RCV000425235,ClinVar:RCV000432709,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000426124,pubmed:23012255,ClinVar:RCV000430982,ClinVar:RCV000444147,ClinVar:RCV000441262,ClinVar:RCV000417885,ClinVar:RCV000433509,ClinVar:RCV000443587,ClinVar:RCV000420162", "114550", "684" ], [ "P04637-1", "TP53", "Cellular tumor antigen p53", "Ensembl,dbSNP", "rs786203436", "", "17p13.1", "17", "7675125", "A", "C", "Y", "D", "4", "4", "", "missense", "1.0", "probably damaging", "0.0", "deleterious", "1", "Uterine Carcinosarcoma", "", "", "ClinVar:RCV000434903,ClinVar:RCV000420721,pubmed:25394175,ClinVar:RCV000166739,pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000424608,pubmed:24493721,ClinVar:RCV000425235,ClinVar:RCV000432709,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000426124,pubmed:23012255,ClinVar:RCV000430982,ClinVar:RCV000444147,ClinVar:RCV000441262,ClinVar:RCV000417885,ClinVar:RCV000433509,ClinVar:RCV000443587,ClinVar:RCV000420162", "182280", "5409" ], [ "P04637-1", "TP53", "Cellular tumor antigen p53", "Ensembl,dbSNP", "rs786203436", "", "17p13.1", "17", "7675125", "A", "C", "Y", "D", "4", "4", "", "missense", "1.0", "probably damaging", "0.0", "deleterious", "1", "Uterine Carcinosarcoma", "", "", "ClinVar:RCV000434903,ClinVar:RCV000420721,pubmed:25394175,ClinVar:RCV000166739,pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000424608,pubmed:24493721,ClinVar:RCV000425235,ClinVar:RCV000432709,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000426124,pubmed:23012255,ClinVar:RCV000430982,ClinVar:RCV000444147,ClinVar:RCV000441262,ClinVar:RCV000417885,ClinVar:RCV000433509,ClinVar:RCV000443587,ClinVar:RCV000420162", "275355", "5520" ], [ "P04637-1", "TP53", "Cellular tumor antigen p53", "Ensembl,dbSNP", "rs786203436", "", "17p13.1", "17", "7675125", "A", "T", "Y", "N", "4", "4", "", "missense", "1.0", "probably damaging", "0.0", "deleterious", "1", "Li-Fraumeni syndrome (LFS)", "Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with the development of the following classic tumors: soft tissue sarcoma, osteosarcoma, pre-menopausal breast cancer, brain tumors, adrenocortical carcinoma (ACC), and leukemias.", "", "pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633347", "151623", "0111503" ], [ "P04637-1", "TP53", "Cellular tumor antigen p53", "Ensembl,dbSNP", "rs786203436", "", "17p13.1", "17", "7675125", "A", "T", "Y", "N", "4", "4", "", "missense", "1.0", "probably damaging", "0.0", "deleterious", "1", "Li-Fraumeni syndrome (LFS)", "Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with the development of the following classic tumors: soft tissue sarcoma, osteosarcoma, pre-menopausal breast cancer, brain tumors, adrenocortical carcinoma (ACC), and leukemias.", "", "pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633347", "151623", "3012" ], [ "P04637-1", "TP53", "Cellular tumor antigen p53", "Ensembl,dbSNP", "rs879254249", "", "17p13.1", "17", "7675122", "T", "C", "K", "E", "5", "5", "", "missense", "0.832", "possibly damaging, probably damaging", "0.035", "deleterious, tolerated", "1", "Li-Fraumeni syndrome (LFS)", "Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with the development of the following classic tumors: soft tissue sarcoma, osteosarcoma, pre-menopausal breast cancer, brain tumors, adrenocortical carcinoma (ACC), and leukemias.", "", "pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000541487", "151623", "0111503" ], [ "P04637-1", "TP53", "Cellular tumor antigen p53", "Ensembl,dbSNP", "rs879254249", "", "17p13.1", "17", "7675122", "T", "C", "K", "E", "5", "5", "", "missense", "0.832", "possibly damaging, probably damaging", "0.035", "deleterious, tolerated", "1", "Li-Fraumeni syndrome (LFS)", "Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with the development of the following classic tumors: soft tissue sarcoma, osteosarcoma, pre-menopausal breast cancer, brain tumors, adrenocortical carcinoma (ACC), and leukemias.", "", "pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000541487", "151623", "3012" ], [ "P04637-1", "TP53", "Cellular tumor antigen p53", "Ensembl,dbSNP", "rs1555526101", "", "17p13.1", "17", "7675115", "G", "A", "S", "L", "7", "7", "", "missense", "0.122", "benign", "0.12", "tolerated", "1", "Li-Fraumeni syndrome (LFS)", "Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with the development of the following classic tumors: soft tissue sarcoma, osteosarcoma, pre-menopausal breast cancer, brain tumors, adrenocortical carcinoma (ACC), and leukemias.", "", "pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633333", "151623", "0111503" ], [ "P04637-1", "TP53", "Cellular tumor antigen p53", "Ensembl,dbSNP", "rs1555526101", "", "17p13.1", "17", "7675115", "G", "A", "S", "L", "7", "7", "", "missense", "0.122", "benign", "0.12", "tolerated", "1", "Li-Fraumeni syndrome (LFS)", "Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with the development of the following classic tumors: soft tissue sarcoma, osteosarcoma, pre-menopausal breast cancer, brain tumors, adrenocortical carcinoma (ACC), and leukemias.", "", "pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633333", "151623", "3012" ], [ "P04637-1", "TP53", "Cellular tumor antigen p53", "Ensembl,dbSNP", "rs587780729", "", "17p13.1", "17", "7675104", "T", "C", "T", "A", "11", "11", "", "missense", "0.003", "benign", "0.59", "tolerated", "1", "Li-Fraumeni syndrome (LFS)", "Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with the development of the following classic tumors: soft tissue sarcoma, osteosarcoma, pre-menopausal breast cancer, brain tumors, adrenocortical carcinoma (ACC), and leukemias.", "", "pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000123097", "151623", "0111503" ], [ "P04637-1", "TP53", "Cellular tumor antigen p53", "Ensembl,dbSNP", "rs587780729", "", "17p13.1", "17", "7675104", "T", "C", "T", "A", "11", "11", "", "missense", "0.003", "benign", "0.59", "tolerated", "1", "Li-Fraumeni syndrome (LFS)", "Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with the development of the following classic tumors: soft tissue sarcoma, osteosarcoma, pre-menopausal breast cancer, brain tumors, adrenocortical carcinoma (ACC), and leukemias.", "", "pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000123097", "151623", "3012" ], [ "P04637-1", "TP53", "Cellular tumor antigen p53", "ExAC,TOPMed,dbSNP,gnomAD", "rs779000871", "", "17p13.1", "17", "7675103", "G", "A", "T", "M", "11", "11", "", "missense", "0.54333", "benign, possibly damaging, probably damaging", "0.12667", "tolerated", "1", "Li-Fraumeni syndrome 1 (LFS)", "Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with the development of the following classic tumors: soft tissue sarcoma, osteosarcoma, pre-menopausal breast cancer, brain tumors, adrenocortical carcinoma (ACC), and leukemias.", "", "pubmed:25394175,ClinVar:RCV000163119,pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000206777,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000662787", "151623", "0111503" ], [ "P04637-1", "TP53", "Cellular tumor antigen p53", "ExAC,TOPMed,dbSNP,gnomAD", "rs779000871", "", "17p13.1", "17", "7675103", "G", "A", "T", "M", "11", "11", "", "missense", "0.54333", "benign, possibly damaging, probably damaging", "0.12667", "tolerated", "1", "Li-Fraumeni syndrome 1 (LFS)", "Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with the development of the following classic tumors: soft tissue sarcoma, osteosarcoma, pre-menopausal breast cancer, brain tumors, adrenocortical carcinoma (ACC), and leukemias.", "", "pubmed:25394175,ClinVar:RCV000163119,pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000206777,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000662787", "151623", "3012" ], [ "P04637-1", "TP53", "Cellular tumor antigen p53", "ExAC,TOPMed,dbSNP,gnomAD", "rs779000871", "", "17p13.1", "17", "7675103", "G", "A", "T", "M", "11", "11", "", "missense", "0.54333", "benign, possibly damaging, probably damaging", "0.12667", "tolerated", "1", "Li-Fraumeni syndrome 1 (LFS)", "Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with the development of the following classic tumors: soft tissue sarcoma, osteosarcoma, pre-menopausal breast cancer, brain tumors, adrenocortical carcinoma (ACC), and leukemias.", "", "pubmed:25394175,ClinVar:RCV000163119,pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000206777,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000662787", "151623", "0111503" ], [ "P04637-1", "TP53", "Cellular tumor antigen p53", "ExAC,TOPMed,dbSNP,gnomAD", "rs779000871", "", "17p13.1", "17", "7675103", "G", "A", "T", "M", "11", "11", "", "missense", "0.54333", "benign, possibly damaging, probably damaging", "0.12667", "tolerated", "1", "Li-Fraumeni syndrome 1 (LFS)", "Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with the development of the following classic tumors: soft tissue sarcoma, osteosarcoma, pre-menopausal breast cancer, brain tumors, adrenocortical carcinoma (ACC), and leukemias.", "", "pubmed:25394175,ClinVar:RCV000163119,pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000206777,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000662787", "151623", "3012" ], [ "P04637-1", "TP53", "Cellular tumor antigen p53", "Ensembl,dbSNP", "rs587781845", "", "17p13.1", "17", "7675101", "C", "T", "E", "K", "12", "12", "", "missense", "0.7595", "benign, possibly damaging, probably damaging", "0.04", "deleterious, tolerated", "1", "Li-Fraumeni syndrome (LFS)", "Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with the development of the following classic tumors: soft tissue sarcoma, osteosarcoma, pre-menopausal breast cancer, brain tumors, adrenocortical carcinoma (ACC), and leukemias.", "", "pubmed:25394175,ClinVar:RCV000130145,pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000168226", "151623", "0111503" ], [ "P04637-1", "TP53", "Cellular tumor antigen p53", "Ensembl,dbSNP", "rs587781845", "", "17p13.1", "17", "7675101", "C", "T", "E", "K", "12", "12", "", "missense", "0.7595", "benign, possibly damaging, probably damaging", "0.04", "deleterious, tolerated", "1", "Li-Fraumeni syndrome (LFS)", "Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with the development of the following classic tumors: soft tissue sarcoma, osteosarcoma, pre-menopausal breast cancer, brain tumors, adrenocortical carcinoma (ACC), and leukemias.", "", "pubmed:25394175,ClinVar:RCV000130145,pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000168226", "151623", "3012" ], [ "P04637-1", "TP53", "Cellular tumor antigen p53", "Ensembl,dbSNP", "rs1131691021", "", "17p13.1", "17", "7675097", "A", "G", "V", "A", "13", "13", "", "missense", "0.879", "possibly damaging, probably damaging", "0.025", "deleterious", "1", "Li-Fraumeni syndrome (LFS)", "Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with the development of the following classic tumors: soft tissue sarcoma, osteosarcoma, pre-menopausal breast cancer, brain tumors, adrenocortical carcinoma (ACC), and leukemias.", "", "pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633341", "151623", "0111503" ], [ "P04637-1", "TP53", "Cellular tumor antigen p53", "Ensembl,dbSNP", "rs1131691021", "", "17p13.1", "17", "7675097", "A", "G", "V", "A", "13", "13", "", "missense", "0.879", "possibly damaging, probably damaging", "0.025", "deleterious", "1", "Li-Fraumeni syndrome (LFS)", "Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with the development of the following classic tumors: soft tissue sarcoma, osteosarcoma, pre-menopausal breast cancer, brain tumors, adrenocortical carcinoma (ACC), and leukemias.", "", "pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633341", "151623", "3012" ], [ "P04637-1", "TP53", "Cellular tumor antigen p53", "Ensembl,dbSNP", "rs1131691043", "", "17p13.1", "17", "7675098", "C", "A", "V", "F", "13", "13", "", "missense", "0.949", "probably damaging", "0.0", "deleterious", "1", "Li-Fraumeni syndrome (LFS)", "An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers.", "pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042", "pubmed:25394175,ClinVar:RCV000492688", "151623", "0111503" ], [ "P04637-1", "TP53", "Cellular tumor antigen p53", "Ensembl,dbSNP", "rs1131691043", "", "17p13.1", "17", "7675098", "C", "A", "V", "F", "13", "13", "", "missense", "0.949", "probably damaging", "0.0", "deleterious", "1", "Li-Fraumeni syndrome (LFS)", "An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers.", "pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042", "pubmed:25394175,ClinVar:RCV000492688", "151623", "3012" ], [ "P04637-1", "TP53", "Cellular tumor antigen p53", "Ensembl,dbSNP", "rs864622115", "", "17p13.1", "17", "7675092", "T", "C", "R", "G", "15", "15", "", "missense", "0.7725", "possibly damaging, probably damaging", "0.0", "deleterious", "1", "Li-Fraumeni syndrome (LFS)", "Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with the development of the following classic tumors: soft tissue sarcoma, osteosarcoma, pre-menopausal breast cancer, brain tumors, adrenocortical carcinoma (ACC), and leukemias.", "", "pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000205095", "151623", "0111503" ] ] }, "readme": "Name\n - Human Somatic Mutation\n\nVersion\n - 1.5.18\n\nCreated on\n - 2020-04-03T17:17:42.572968\n\nModified on\n - 2020-04-03T17:38:59.074619\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 Somatic Mutation dataset contains human [taxid:9606] somatic mutation data from EBI Variant Data API. Only nonsynonymous single-nucleotide variations (nsSNVs) somatic 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 - somatic mutations\n - dbSNP\n - disease\n - ClinVar\n\n Pipeline Steps\n - Step-1: The script extracts the somatic (somatic_staus = 1) 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-1.5.18/source/dbSNP-homo-sapiens.tsv\n Name: human_protein_masterlist.csv\n URI: https://data.glygen.org/ln2data/releases/data/v-1.5.18/reviewed/human_protein_masterlist.csv\n Output Subdomain\n Name: human_protein_mutation_somatic.csv\n URI: https://data.glygen.org/ln2data/releases/data/v-1.5.18/reviewed/human_protein_mutation_somatic.csv\n Name: human_protein_mutation_somatic.stat.csv\n URI: https://data.glygen.org/ln2data/releases/data/v-1.5.18/reviewed/human_protein_mutation_somatic.stat.csv\n\nFields\n Name: \"alt_allele\"\n Description: \"Alternate allele\"\n Unique Values: \"4\"\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: \"1699\"\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: \"3529\"\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: \"82\"\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: \"6674\"\n Name: \"mim_id\"\n Description: \"Disease ID from the OMIM database\"\n Unique Values: \"1572\"\n Name: \"begin_aa_pos\"\n Description: \"Start position of the amino acid in the sequence of a protein in UniProtKB\"\n Unique Values: \"3529\"\n Name: \"cytogenic_band\"\n Description: \"One of the subregions of a chromosome visible microscopically after special staining\"\n Unique Values: \"592\"\n Name: \"mutation_type\"\n Description: \"Types of nonsynonymous substitution mutations\"\n Unique Values: \"3\"\n Name: \"ref_aa\"\n Description: \"Reference amino acid residue\"\n Unique Values: \"21\"\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: \"274\"\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: \"1565\"\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: \"4199\"\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: \"6747\"\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: \"24\"\n Name: \"disease_description\"\n Description: \"The disease description and/or definition\"\n Unique Values: \"789\"\n Name: \"do_id\"\n Description: \"Disease Ontology identifier\"\n Unique Values: \"1586\"\n Name: \"data_source\"\n Description: \"The source database for the data\"\n Unique Values: \"42\"\n Name: \"chromosome_id\"\n Description: \"Chromosome number identifier\"\n Unique Values: \"24\"\n Name: \"disease\"\n Description: \"The disease name for the cell line\"\n Unique Values: \"1677\"\n Name: \"alt_aa\"\n Description: \"Altered amino acid residue\"\n Unique Values: \"21\"\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: \"7776\"\n Name: \"position\"\n Description: \"Chromosome position of a gene\"\n Unique Values: \"6674\"\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: \"1693\"\n Name: \"disease_evidence_ECO:0000269\"\n Description: \"The PMID evidence for the association of the disease with the variant.\"\n Unique Values: \"634\"", "downloadurl": "/ln2data/releases/data/v-1.5.18/reviewed/human_protein_mutation_somatic.csv" }