{ "bcoid": "GLY_000460", "title": "Mouse Germline Mutation", "description": "The Mouse Germline Mutation dataset contains mouse [taxid:10090] germline mutation data from EBI Variant ...", "filename": "mouse_protein_mutation_germline.csv", "filetype": "csv", "categories": { "species": "Mus musculus", "molecule": "Protein", "tags": "Germline Mutations", "file_type": "csv", "status": "Reviewed", "scope": "internal" }, "minitable": { "content": [ [ "Q01815-1...", "1740..." ], [ "Q01815-1...", "1740..." ] ], "headers": [ "uniprotkb_ca...", "aa_pos..." ], "colwidth": [ "40%", "20%" ] }, "sampledata": { "type": "table", "data": [ [ { "type": "string", "label": "uniprotkb_canonical_ac" }, { "type": "string", "label": "aa_pos" }, { "type": "string", "label": "gene_name" }, { "type": "string", "label": "protein_name" }, { "type": "string", "label": "dbsnp_id" }, { "type": "string", "label": "cosmic_id" }, { "type": "string", "label": "description" }, { "type": "string", "label": "evidence_ECO:0000269" }, { "type": "string", "label": "evidence_ECO:0000313" }, { "type": "string", "label": "cytogenic_band" }, { "type": "string", "label": "chr_id" }, { "type": "string", "label": "chr_pos" }, { "type": "string", "label": "ref_nt" }, { "type": "string", "label": "alt_nt" }, { "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": "minor_allelic_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_xrefs" }, { "type": "string", "label": "disease_evidence_ECO:0000269" }, { "type": "string", "label": "disease_evidence_ECO:0000313" }, { "type": "string", "label": "xref_key" }, { "type": "string", "label": "xref_id" }, { "type": "string", "label": "mim_id" }, { "type": "string", "label": "do_id" }, { "type": "string", "label": "filter_flags" }, { "type": "string", "label": "glyco_annotation" } ], [ "Q01815-1", "1740", "Cacna1c", "Voltage-dependent L-type calcium channel subunit alpha", "rs31579954", "", "", "", "", "6F1", "6", "118602267G>", "T", "null", "T", "N", "1740", "1740", "", "missense", "", "", "0.22", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs31579954", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TES->NES).", "glycancount:0, pmidcount:0" ], [ "Q01815-1", "1740", "Cacna1c", "Voltage-dependent L-type calcium channel subunit alpha", "rs31579954", "", "", "", "", "6F1", "6", "118602267G>", "T", "null", "T", "N", "1740", "1740", "", "missense", "", "", "0.22", "tolerated", "0", "", "", "", "", "", "protein_xref_ensembl", "rs31579954", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TES->NES).", "glycancount:0, pmidcount:0" ], [ "Q3UHD1-1", "836", "Adgrb1", "Adhesion G protein-coupled receptor B1", "rs241313080", "", "", "", "", "15D3", "15", "74548325G>", "A", "null", "G", "S", "836", "836", "", "missense", "", "", "0.02", "deleterious", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs241313080", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLG->NLS).", "glycancount:0, pmidcount:0" ], [ "Q3UHD1-1", "836", "Adgrb1", "Adhesion G protein-coupled receptor B1", "rs241313080", "", "", "", "", "15D3", "15", "74548325G>", "A", "null", "G", "S", "836", "836", "", "missense", "", "", "0.02", "deleterious", "0", "", "", "", "", "", "protein_xref_ensembl", "rs241313080", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLG->NLS).", "glycancount:0, pmidcount:0" ], [ "Q01815-1", "1740", "Cacna1c", "Voltage-dependent L-type calcium channel subunit alpha", "rs31579954", "", "", "", "", "6F1", "6", "118602267G>", "T", "null", "T", "N", "1740", "1740", "", "missense", "", "", "0.22", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs31579954", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TES->NES).", "glycancount:0, pmidcount:0" ], [ "Q01815-1", "1740", "Cacna1c", "Voltage-dependent L-type calcium channel subunit alpha", "rs31579954", "", "", "", "", "6F1", "6", "118602267G>", "T", "null", "T", "N", "1740", "1740", "", "missense", "", "", "0.22", "tolerated", "0", "", "", "", "", "", "protein_xref_ensembl", "rs31579954", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TES->NES).", "glycancount:0, pmidcount:0" ], [ "Q80T03-1", "1436", "Muc6", "Mucin-6", "rs213395359", "", "", "", "", "7F5", "7", "141640453C>", "T", "null", "D", "N", "1436", "1436", "", "missense", "", "", "0.77", "tolerated - low confidence", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs213395359", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DIT->NIT).", "glycancount:0, pmidcount:0" ], [ "Q80T03-1", "1436", "Muc6", "Mucin-6", "rs213395359", "", "", "", "", "7F5", "7", "141640453C>", "T", "null", "D", "N", "1436", "1436", "", "missense", "", "", "0.77", "tolerated - low confidence", "0", "", "", "", "", "", "protein_xref_ensembl", "rs213395359", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DIT->NIT).", "glycancount:0, pmidcount:0" ], [ "Q60675-1", "1110", "Lama2", "Laminin subunit alpha-2", "rs245122813", "", "", "", "", "10A4", "10", "27190556C>", "T", "null", "D", "N", "1110", "1110", "", "missense", "", "", "0.3", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs245122813", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DAT->NAT).", "glycancount:0, pmidcount:0" ], [ "Q60675-1", "1110", "Lama2", "Laminin subunit alpha-2", "rs245122813", "", "", "", "", "10A4", "10", "27190556C>", "T", "null", "D", "N", "1110", "1110", "", "missense", "", "", "0.3", "tolerated", "0", "", "", "", "", "", "protein_xref_ensembl", "rs245122813", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DAT->NAT).", "glycancount:0, pmidcount:0" ], [ "A0A1L1SQU7-1", "999", "Fat1", "FAT atypical cadherin 1", "rs221543291", "", "", "", "", "8B1.1", "8", "44953208A>", "G", "null", "N", "D", "999", "999", "", "missense", "", "", "0.0", "deleterious", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs221543291", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->DLT).", "glycancount:1, pmidcount:1" ], [ "A0A1L1SQU7-1", "999", "Fat1", "FAT atypical cadherin 1", "rs221543291", "", "", "", "", "8B1.1", "8", "44953208A>", "G", "null", "N", "D", "999", "999", "", "missense", "", "", "0.0", "deleterious", "0", "", "", "", "", "", "protein_xref_ensembl", "rs221543291", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->DLT).", "glycancount:1, pmidcount:1" ], [ "O35451-1", "228", "Atf6b", "Cyclic AMP-dependent transcription factor ATF-6 beta", "rs33547516", "", "", "", "", "17B1", "17", "34650606G>", "A", "null", "S", "N", "228", "228", "", "missense", "", "", "0.28", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs33547516", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SSS->NSS).", "glycancount:0, pmidcount:0" ], [ "O35451-1", "228", "Atf6b", "Cyclic AMP-dependent transcription factor ATF-6 beta", "rs33547516", "", "", "", "", "17B1", "17", "34650606G>", "A", "null", "S", "N", "228", "228", "", "missense", "", "", "0.28", "tolerated", "0", "", "", "", "", "", "protein_xref_ensembl", "rs33547516", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SSS->NSS).", "glycancount:0, pmidcount:0" ], [ "Q61098-1", "191", "Il18r1", "Interleukin-18 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"Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (YAS->NAS).", "glycancount:0, pmidcount:0" ], [ "Q7TSN7-1", "81", "Igsf5", "Immunoglobulin superfamily member 5", "rs239168347", "", "", "", "", "16C4", "16", "96373012T>", "A", "null", "Y", "N", "81", "81", "", "missense", "", "", "0.01", "deleterious", "0", "", "", "", "", "", "protein_xref_ensembl", "rs239168347", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (YAS->NAS).", "glycancount:0, pmidcount:0" ], [ "A0A0B4J1G0-1", "57", "Fcgr4", "Low affinity immunoglobulin gamma Fc region receptor IV", "rs48008113", "", "", "", "", "1H3", "1", "171020004T>", "C", "null", "I", "T", "57", "57", "", "missense", "", "", "1.0", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs48008113", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSI->NST).", "glycancount:0, pmidcount:0" ], [ "A0A0B4J1G0-1", "57", "Fcgr4", "Low affinity immunoglobulin gamma Fc region receptor 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"protein_xref_ensembl", "rs1132491867", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRT->KRT).", "glycancount:0, pmidcount:0" ], [ "A7XV04-1", "114", "Skint7", "Selection and upkeep of intraepithelial T-cells protein 7", "rs1133492069", "", "", "", "", "4D1", "4", "111980367A>", "G", "null", "N", "S", "114", "114", "", "missense", "", "", "1.0", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs1133492069", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NIN->NIS).", "glycancount:0, pmidcount:0" ], [ "A7XV04-1", "114", "Skint7", "Selection and upkeep of intraepithelial T-cells protein 7", "rs1133492069", "", "", "", "", "4D1", "4", "111980367A>", "G", "null", "N", "S", "114", "114", "", "missense", "", "", "1.0", "tolerated", "0", "", "", "", "", "", "protein_xref_ensembl", "rs1133492069", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NIN->NIS).", "glycancount:0, pmidcount:0" ], [ "Q9R0H2-1", "58", "Emcn", "Endomucin (Fragment)", "rs212629929", "", "", "", "", "3G3", "3", "137372826C>", "T", "null", "P", "S", "58", "58", "", "missense", "", "", "1.0", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs212629929", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKP->NKS).", "glycancount:0, pmidcount:0" ], [ "Q9R0H2-1", "58", "Emcn", "Endomucin (Fragment)", "rs212629929", "", "", "", "", "3G3", "3", "137372826C>", "T", "null", "P", "S", "58", "58", "", "missense", "", "", "1.0", "tolerated", "0", "", "", "", "", "", "protein_xref_ensembl", "rs212629929", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKP->NKS).", "glycancount:0, pmidcount:0" ], [ "Q9R0H2-1", "71", "Emcn", "Endomucin (Fragment)", "rs219525955", "", "", "", "", "3G3", "3", "137379853G>", "A", "null", "D", "N", "71", "71", "", "missense", "", "", "0.31", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs219525955", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DVS->NVS).", "glycancount:0, pmidcount:0" ], [ "Q9R0H2-1", "71", "Emcn", "Endomucin (Fragment)", "rs219525955", "", "", "", "", "3G3", "3", "137379853G>", "A", "null", "D", "N", "71", "71", "", "missense", "", "", "0.31", "tolerated", "0", "", "", "", "", "", "protein_xref_ensembl", "rs219525955", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DVS->NVS).", "glycancount:0, pmidcount:0" ], [ "Q8VHS2-1", "81", "Crb1", "Protein crumbs homolog 1", "rs247176989", "", "", "", "", "1E4", "1", "139337437A>", "T", "null", "I", "N", "81", "81", "", "missense", "", "", "1.0", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs247176989", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IAT->NAT).", "glycancount:0, pmidcount:0" ], [ "Q8VHS2-1", "81", "Crb1", "Protein crumbs homolog 1", "rs247176989", "", "", "", "", "1E4", "1", "139337437A>", "T", "null", "I", "N", "81", "81", "", "missense", "", "", "1.0", "tolerated", "0", "", "", "", "", "", "protein_xref_ensembl", "rs247176989", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IAT->NAT).", "glycancount:0, pmidcount:0" ], [ "Q2YFS1-1", "123", "Pilrb2", "Paired immunoglobulin-like type 2 receptor beta-2", "rs578471672", "", "", "", "", "5G2", "5", "137870969T>", "G", "null", "K", "T", "123", "123", "", "missense", "", "", "0.01", "deleterious", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs578471672", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFK->NFT).", "glycancount:0, pmidcount:0" ], [ "Q2YFS1-1", "123", "Pilrb2", "Paired immunoglobulin-like type 2 receptor beta-2", "rs578471672", "", "", "", "", "5G2", "5", "137870969T>", "G", "null", "K", "T", "123", "123", "", "missense", "", "", "0.01", "deleterious", "0", "", "", "", "", "", "protein_xref_ensembl", "rs578471672", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFK->NFT).", "glycancount:0, pmidcount:0" ], [ "P70663-1", "170", "Sparcl1", "SPARC-like protein 1 (Fragment)", "rs229348802", "", "", "", "", "5E5", "5", "104093048C>", "T", "null", "S", "N", "170", "170", "", "missense", "", "", "0.27", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs229348802", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NES->NEN).", "glycancount:0, pmidcount:0" ], [ "P70663-1", "170", "Sparcl1", "SPARC-like protein 1 (Fragment)", "rs229348802", "", "", "", "", "5E5", "5", "104093048C>", "T", "null", "S", "N", "170", "170", "", "missense", "", "", "0.27", "tolerated", "0", "", "", "", "", "", "protein_xref_ensembl", "rs229348802", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NES->NEN).", "glycancount:0, pmidcount:0" ], [ "P06795-1", "98", "Abcb1b", "ATP-dependent translocase ABCB1", "rs31413113", "", "", "", "", "5A1", "5", "8812670C>", "T", "null", "T", "I", "98", "98", "", "missense", "", "", "0.02", "deleterious", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs31413113", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->NSI).", "glycancount:0, pmidcount:0" ], [ "P06795-1", "98", "Abcb1b", "ATP-dependent translocase ABCB1", "rs31413113", "", "", "", "", "5A1", "5", "8812670C>", "T", "null", "T", "I", "98", "98", "", "missense", "", "", "0.02", "deleterious", "0", "", "", "", "", "", "protein_xref_ensembl", "rs31413113", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->NSI).", "glycancount:0, pmidcount:0" ], [ "B6A8R8-1", "287", "Tarm1", "T-cell-interacting,-activating receptor on myeloid cells protein 1", "rs1133264983", "", "", "", "", "7A1", "7", "3489087G>", "A", "null", "P", "S", "287", "287", "", "missense", "", "", "0.15", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs1133264983", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKP->NKS).", "glycancount:0, pmidcount:0" ], [ "B6A8R8-1", "287", "Tarm1", "T-cell-interacting,-activating receptor on myeloid cells protein 1", "rs1133264983", "", "", "", "", "7A1", "7", "3489087G>", "A", "null", "P", "S", "287", "287", "", "missense", "", "", "0.15", "tolerated", "0", "", "", "", "", "", "protein_xref_ensembl", "rs1133264983", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKP->NKS).", "glycancount:0, pmidcount:0" ], [ "P32082-1", "51", "Ghrhr", "Growth hormone-releasing hormone receptor", "rs260906925", "", "", "", "", "6B3", "6", "55378969A>", "G", "null", "T", "A", "51", "51", "", "missense", "", "", "0.24", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs260906925", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNT->NNA).", "glycancount:0, pmidcount:0" ], [ "P32082-1", "51", "Ghrhr", "Growth hormone-releasing hormone receptor", "rs260906925", "", "", "", "", "6B3", "6", "55378969A>", "G", "null", "T", "A", "51", "51", "", "missense", "", "", "0.24", "tolerated", "0", "", "", "", "", "", "protein_xref_ensembl", "rs260906925", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNT->NNA).", "glycancount:0, pmidcount:0" ], [ "Q61096-1", "129", "Prtn3", "Myeloblastin", "rs264941378", "", "", "", "", "10C1", "10", "79881944A>", "C", "null", "T", "P", "129", "129", "", "missense", "", "", "1.0", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs264941378", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRT->NRP).", "glycancount:0, pmidcount:0" ], [ "Q61096-1", "129", "Prtn3", "Myeloblastin", "rs264941378", "", "", "", "", "10C1", "10", "79881944A>", "C", "null", "T", "P", "129", "129", "", "missense", "", "", "1.0", "tolerated", "0", "", "", "", "", "", "protein_xref_ensembl", "rs264941378", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRT->NRP).", "glycancount:0, pmidcount:0" ], [ "Q8BNQ3-1", "11", "Gpr137b", "Integral membrane protein GPR137B", "rs582502010", "", "", "", "", "13A1", "13", "13393462T>", "C", "null", "N", "S", "11", "11", "", "missense", "", "", "0.35", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs582502010", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDS->SDS).", "glycancount:0, pmidcount:0" ], [ "Q8BNQ3-1", "11", "Gpr137b", "Integral membrane protein GPR137B", "rs582502010", "", "", "", "", "13A1", "13", "13393462T>", "C", "null", "N", "S", "11", "11", "", "missense", "", "", "0.35", "tolerated", "0", "", "", "", "", "", "protein_xref_ensembl", "rs582502010", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDS->SDS).", "glycancount:0, pmidcount:0" ], [ "P06683-1", "263", "C9", "Complement component C9", "rs223855998", "", "", "", "", "15A1", "15", "6483224A>", "G", "null", "N", "D", "263", "263", "", "missense", "", "", "0.68", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs223855998", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIS->DIS).", "glycancount:0, pmidcount:1" ], [ "P06683-1", "263", "C9", "Complement component C9", "rs223855998", "", "", "", "", "15A1", "15", "6483224A>", "G", "null", "N", "D", "263", "263", "", "missense", "", "", "0.68", "tolerated", "0", "", "", "", "", "", "protein_xref_ensembl", "rs223855998", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIS->DIS).", "glycancount:0, pmidcount:1" ], [ "Q8BZH1-1", "407", "Tgm4", "Protein-glutamine gamma-glutamyltransferase 4", "rs230941406", "", "", "", "", "9F4", "9", "123056615A>", "C", "null", "K", "N", "407", "407", "", "missense", "", "", "1.0", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs230941406", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KIS->NIS).", "glycancount:0, pmidcount:0" ], [ "Q8BZH1-1", "407", "Tgm4", "Protein-glutamine gamma-glutamyltransferase 4", "rs230941406", "", "", "", "", "9F4", "9", "123056615A>", "C", "null", "K", "N", "407", "407", "", "missense", "", "", "1.0", "tolerated", "0", "", "", "", "", "", "protein_xref_ensembl", "rs230941406", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KIS->NIS).", "glycancount:0, pmidcount:0" ], [ "Q8K2I4-1", "304", "Manba", "Beta-mannosidase", "rs214428890", "", "", "", "", "3G3", "3", "135524578C>", "A", "null", "T", "K", "304", "304", "", "missense", "", "", "0.17", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs214428890", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NMT->NMK).", "glycancount:0, pmidcount:0" ], [ "Q8K2I4-1", "304", "Manba", "Beta-mannosidase", "rs214428890", "", "", "", "", "3G3", "3", "135524578C>", "A", "null", "T", "K", "304", "304", "", "missense", "", "", "0.17", "tolerated", "0", "", "", "", "", "", "protein_xref_ensembl", "rs214428890", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NMT->NMK).", "glycancount:0, pmidcount:0" ], [ "Q8K2I4-1", "850", "Manba", "Beta-mannosidase", "rs221064614", "", "", "", "", "3G3", "3", "135570349A>", "T", "null", "K", "N", "850", "850", "", "missense", "", "", "0.27", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs221064614", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KLS->NLS).", "glycancount:0, pmidcount:0" ], [ "Q8K2I4-1", "850", "Manba", "Beta-mannosidase", "rs221064614", "", "", "", "", "3G3", "3", "135570349A>", "T", "null", "K", "N", "850", "850", "", "missense", "", "", "0.27", "tolerated", "0", "", "", "", "", "", "protein_xref_ensembl", "rs221064614", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KLS->NLS).", "glycancount:0, pmidcount:0" ], [ "P35969-1", "575", "Flt1", "Receptor protein-tyrosine kinase", "rs222631065", "", "", "", "", "5G3", "5", "147639472T>", "A", "null", "K", "N", "575", "575", "", "missense", "", "", "0.26", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs222631065", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KLS->NLS).", "glycancount:0, pmidcount:0" ], [ "P35969-1", "575", "Flt1", "Receptor protein-tyrosine kinase", "rs222631065", "", "", "", "", "5G3", "5", "147639472T>", "A", "null", "K", "N", "575", "575", "", "missense", "", "", "0.26", "tolerated", "0", "", "", "", "", "", "protein_xref_ensembl", "rs222631065", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KLS->NLS).", "glycancount:0, pmidcount:0" ], [ "Q7TMS5-1", "340", "Abcg2", "ATP-binding cassette sub-family G member 2", "rs212441756", "", "", "", "", "6B3", "6", "58674642G>", "A", "null", "A", "T", "340", "340", "", "missense", "", "", "0.17", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs212441756", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSA->NST).", "glycancount:0, pmidcount:0" ], [ "Q7TMS5-1", "340", "Abcg2", "ATP-binding cassette sub-family G member 2", "rs212441756", "", "", "", "", "6B3", "6", "58674642G>", "A", "null", "A", "T", "340", "340", "", "missense", "", "", "0.17", "tolerated", "0", "", "", "", "", "", "protein_xref_ensembl", "rs212441756", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSA->NST).", "glycancount:0, pmidcount:0" ], [ "Q9D733-1", "319", "Gp2", "Pancreatic secretory granule membrane major glycoprotein GP2", "rs256644941", "", "", "", "", "7F2", "7", "119451543C>", "T", "null", "D", "N", "319", "319", "", "missense", "", "", "0.06", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs256644941", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DMS->NMS).", "glycancount:0, pmidcount:0" ], [ "Q9D733-1", "319", "Gp2", "Pancreatic secretory granule membrane major glycoprotein GP2", "rs256644941", "", "", "", "", "7F2", "7", "119451543C>", "T", "null", "D", "N", "319", "319", "", "missense", "", "", "0.06", "tolerated", "0", "", "", "", "", "", "protein_xref_ensembl", "rs256644941", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DMS->NMS).", "glycancount:0, pmidcount:0" ], [ "Q9CYK2-1", "31", "Qpct", "Glutaminyl-peptide cyclotransferase", "rs223034207", "", "", "", "", "17E3", "17", "79052357G>", "A", "null", "S", "N", "31", "31", "", "missense", "", "", "0.4", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs223034207", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->NLN).", "glycancount:0, pmidcount:0" ], [ "Q9CYK2-1", "31", "Qpct", "Glutaminyl-peptide cyclotransferase", "rs223034207", "", "", "", "", "17E3", "17", "79052357G>", "A", "null", "S", "N", "31", "31", "", "missense", "", "", "0.4", "tolerated", "0", "", "", "", "", "", "protein_xref_ensembl", "rs223034207", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->NLN).", "glycancount:0, pmidcount:0" ], [ "Q02496-1", "36", "Muc1", "MUC1-CT", "rs8259110", "", "", "", "", "3F1", "3", "89229958G>", "A", "null", "D", "N", "36", "36", "", "missense", "", "", "0.18", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs8259110", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DTS->NTS).", "glycancount:0, pmidcount:0" ], [ "Q02496-1", "36", "Muc1", "MUC1-CT", "rs8259110", "", "", "", "", "3F1", "3", "89229958G>", "A", "null", "D", "N", "36", "36", "", "missense", "", "", "0.18", "tolerated", "0", "", "", "", "", "", "protein_xref_ensembl", "rs8259110", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DTS->NTS).", "glycancount:0, pmidcount:0" ], [ "Q02496-1", "174", "Muc1", "MUC1-CT", "rs8259118", "", "", "", "", "3F1", "3", "89230373G>", "A", "null", "S", "N", "174", "174", "", "missense", "", "", "0.82", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs8259118", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (STS->NTS).", "glycancount:0, pmidcount:0" ], [ "Q02496-1", "174", "Muc1", "MUC1-CT", "rs8259118", "", "", "", "", "3F1", "3", "89230373G>", "A", "null", "S", "N", "174", "174", "", "missense", "", "", "0.82", "tolerated", "0", "", "", "", "", "", "protein_xref_ensembl", "rs8259118", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (STS->NTS).", "glycancount:0, pmidcount:0" ], [ "Q02496-1", "215", "Muc1", "MUC1-CT", "rs8259149", "", "", "", "", "3F1", "3", "89230495G>", "A", "null", "D", "N", "215", "215", "", "missense", "", "", "0.57", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs8259149", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DTS->NTS).", "glycancount:0, pmidcount:0" ], [ "Q02496-1", "215", "Muc1", "MUC1-CT", "rs8259149", "", "", "", "", "3F1", "3", "89230495G>", "A", "null", "D", "N", "215", "215", "", "missense", "", "", "0.57", "tolerated", "0", "", "", "", "", "", "protein_xref_ensembl", "rs8259149", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DTS->NTS).", "glycancount:0, pmidcount:0" ], [ "P07759-1", "39", "Serpina3k", "Serine protease inhibitor A3K", "rs13466944", "", "", "", "", "12E", "12", "104340627T>", "G", "null", "N", "K", "39", "39", "", "missense", "", "", "0.49", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs13466944", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->KGT).", "glycancount:0, pmidcount:0" ], [ "P07759-1", "39", "Serpina3k", "Serine protease inhibitor A3K", "rs13466944", "", "", "", "", "12E", "12", "104340627T>", "G", "null", "N", "K", "39", "39", "", "missense", "", "", "0.49", "tolerated", "0", "", "", "", "", "", "protein_xref_ensembl", "rs13466944", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->KGT).", "glycancount:0, pmidcount:0" ], [ "P70389-1", "586", "Igfals", "Insulin-like growth factor-binding protein complex acid labile subunit", "rs220246189", "", "", "", "", "17A3.3", "17", "24881693A>", "C", "null", "N", "T", "586", "586", "", "missense", "", "", "0.43", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs220246189", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVS->TVS).", "glycancount:0, pmidcount:0" ], [ "P70389-1", "586", "Igfals", "Insulin-like growth factor-binding protein complex acid labile subunit", "rs220246189", "", "", "", "", "17A3.3", "17", "24881693A>", "C", "null", "N", "T", "586", "586", "", "missense", "", "", "0.43", "tolerated", "0", "", "", "", "", "", "protein_xref_ensembl", "rs220246189", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVS->TVS).", "glycancount:0, pmidcount:0" ], [ "Q504P2-1", "34", "Clec12a", "C-type lectin domain family 12 member A", "rs37700874", "", "", "", "", "6F3", "6", "129353360G>", "A", "null", "D", "N", "34", "34", "", "missense", "", "", "0.06", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs37700874", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DAS->NAS).", "glycancount:0, pmidcount:0" ], [ "Q504P2-1", "34", "Clec12a", "C-type lectin domain family 12 member A", "rs37700874", "", "", "", "", "6F3", "6", "129353360G>", "A", "null", "D", "N", "34", "34", "", "missense", "", "", "0.06", "tolerated", "0", "", "", "", "", "", "protein_xref_ensembl", "rs37700874", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DAS->NAS).", "glycancount:0, pmidcount:0" ], [ "Q7TSN7-1", "81", "Igsf5", "Immunoglobulin superfamily member 5", "rs239168347", "", "", "", "", "16C4", "16", "96373012T>", "A", "null", "Y", "N", "81", "81", "", "missense", "", "", "0.02", "deleterious", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs239168347", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (YAS->NAS).", "glycancount:0, pmidcount:0" ], [ "Q7TSN7-1", "81", "Igsf5", "Immunoglobulin superfamily member 5", "rs239168347", "", "", "", "", "16C4", "16", "96373012T>", "A", "null", "Y", "N", "81", "81", "", "missense", "", "", "0.02", "deleterious", "0", "", "", "", "", "", "protein_xref_ensembl", "rs239168347", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (YAS->NAS).", "glycancount:0, pmidcount:0" ], [ "Q9R159-1", "692", "Adam25", "Disintegrin and metalloproteinase domain-containing protein 25", "rs579226155", "", "", "", "", "8A4", "8", "40755773C>", "A", "null", "T", "N", "692", "692", "", "missense", "", "", "0.51", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs579226155", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYT->NYN).", "glycancount:0, pmidcount:0" ], [ "Q9R159-1", "692", "Adam25", "Disintegrin and metalloproteinase domain-containing protein 25", "rs579226155", "", "", "", "", "8A4", "8", "40755773C>", "A", "null", "T", "N", "692", "692", "", "missense", "", "", "0.51", "tolerated", "0", "", "", "", "", "", "protein_xref_ensembl", "rs579226155", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYT->NYN).", "glycancount:0, pmidcount:0" ], [ "Q9R159-1", "696", "Adam25", "Disintegrin and metalloproteinase domain-containing protein 25", "rs582508533", "", "", "", "", "8A4", "8", "40755785C>", "A", "null", "T", "N", "696", "696", "", "missense", "", "", "0.48", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs582508533", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYT->NYN).", "glycancount:0, pmidcount:0" ], [ "Q9R159-1", "696", "Adam25", "Disintegrin and metalloproteinase domain-containing protein 25", "rs582508533", "", "", "", "", "8A4", "8", "40755785C>", "A", "null", "T", "N", "696", "696", "", "missense", "", "", "0.48", "tolerated", "0", "", "", "", "", "", "protein_xref_ensembl", "rs582508533", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYT->NYN).", "glycancount:0, pmidcount:0" ], [ "Q7TSA3-1", "45", "Btla", "B- and T-lymphocyte attenuator", "rs49638012", "", "", "", "", "16B5", "16", "45239068C>", "A", "null", "T", "N", "45", "45", "", "missense", "", "", "0.21", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs49638012", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TIT->NIT).", "glycancount:0, pmidcount:0" ], [ "Q7TSA3-1", "45", "Btla", "B- and T-lymphocyte attenuator", "rs49638012", "", "", "", "", "16B5", "16", "45239068C>", "A", "null", "T", "N", "45", "45", "", "missense", "", "", "0.21", "tolerated", "0", "", "", "", "", "", "protein_xref_ensembl", "rs49638012", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TIT->NIT).", "glycancount:0, pmidcount:0" ], [ "Q7TSA3-1", "74", "Btla", "B- and T-lymphocyte attenuator", "rs4180617", "", "", "", "", "16B5", "16", "45239154A>", "C", "null", "N", "H", "74", "74", "", "missense", "", "", "0.09", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs4180617", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->HVT).", "glycancount:0, pmidcount:0" ], [ "Q7TSA3-1", "74", "Btla", "B- and T-lymphocyte attenuator", "rs4180617", "", "", "", "", "16B5", "16", "45239154A>", "C", "null", "N", "H", "74", "74", "", "missense", "", "", "0.09", "tolerated", "0", "", "", "", "", "", "protein_xref_ensembl", "rs4180617", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->HVT).", "glycancount:0, pmidcount:0" ], [ "O70458-1", "76", "Osmr", "Oncostatin-M-specific receptor subunit beta", "rs1133639609", "", "", "", "", "15A1", "15", "6852435G>", "T", "null", "S", "Y", "76", "76", "", "missense", "", "", "0.0", "deleterious", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs1133639609", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIS->NIY).", "glycancount:0, pmidcount:0" ], [ "O70458-1", "76", "Osmr", "Oncostatin-M-specific receptor subunit beta", "rs1133639609", "", "", "", "", "15A1", "15", "6852435G>", "T", "null", "S", "Y", "76", "76", "", "missense", "", "", "0.0", "deleterious", "0", "", "", "", "", "", "protein_xref_ensembl", "rs1133639609", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIS->NIY).", "glycancount:0, pmidcount:0" ] ] }, "readme": "Name\n - Mouse Germline Mutation\n\nVersion\n - 1.8.25\n\nCreated on\n - 2020-04-03T17:22:53.520266\n\nModified on\n - 2020-04-03T17:39:49.678055\n\nCreated by\n - Jeet Vora [jeetvora@gwu.edu], Rahi Navelkar [rsn13@gwu.edu], Robel Kahsay [rykahsay@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 Mouse Germline Mutation dataset contains mouse [taxid:10090] 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-mus-musculus.tsv\n URI: https://data.glygen.org/ln2data/releases/data/v-1.8.25/source/dbSNP-mus-musculus.tsv\n Name: mouse_protein_masterlist.csv\n URI: https://data.glygen.org/ln2data/releases/data/v-1.8.25/reviewed/mouse_protein_masterlist.csv\n Output Subdomain\n Name: mouse_protein_mutation_germline.csv\n URI: https://data.glygen.org/ln2data/releases/data/v-1.8.25/reviewed/mouse_protein_mutation_germline.csv\n Name: mouse_protein_mutation_germline.stat.csv\n URI: https://data.glygen.org/ln2data/releases/data/v-1.8.25/reviewed/mouse_protein_mutation_germline.stat.csv\n\nFields\n Name: \"src_xref_key\"\n Description: \"Source Xref key\"\n Unique Values: \"1\"\n Name: \"xref_id\"\n Description: \"ID of the X-ref\"\n Unique Values: \"119\"\n Name: \"title\"\n Description: \"Title of the published article in the journal\"\n Unique Values: \"119\"\n Name: \"src_xref_id\"\n Description: \"Source X-ref ID\"\n Unique Values: \"120\"\n Name: \"journal_name\"\n Description: \"The name of the journal in which the article is published\"\n Unique Values: \"49\"\n Name: \"authors\"\n Description: \"NA\"\n Unique Values: \"118\"\n Name: \"publication_date\"\n Description: \"Contains the full date on which the issue of the journal was published. Sourced from MEDLINE/PubMed data element(fields) description.\"\n Unique Values: \"117\"\n Name: \"glytoucan_ac\"\n Description: \"Unique accession assigned to the registered glycan structure in GlyTouCan database\"\n Unique Values: \"115\"\n Name: \"xref_key\"\n Description: \"Source key associated to the xref_id\"\n Unique Values: \"1\"", "downloadurl": "/ln2data/releases/data/v-1.8.25/reviewed/mouse_protein_mutation_germline.csv" }