Mercurial > repos > nathandunn > monarchinitiative
diff test-data/variants-for-diseases-intersection.tsv @ 7:61d8060bf2ed draft
planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
| author | nathandunn |
|---|---|
| date | Mon, 22 Aug 2016 12:41:24 -0400 |
| parents | 850bb90bd667 |
| children | 5fa1f0ca69cc |
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--- a/test-data/variants-for-diseases-intersection.tsv Wed Jun 29 14:17:39 2016 -0400 +++ b/test-data/variants-for-diseases-intersection.tsv Mon Aug 22 12:41:24 2016 -0400 @@ -1,33 +1,12 @@ -ClinVarVariant:8113 NM_002973.3(ATXN2):c.496_498CAG(15_24) (p.Gln188_Pro189insGlnGln) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:9726 m.3397A>G NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:29936 NM_012084.3(GLUD2):c.1492T>G (p.Ser498Ala) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:4885 FGF20, 951C/T NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:98243 NM_016835.4(MAPT):c.1838_1840delATA (p.Asn613del) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:4295 NM_001005741.2(GBA):c.1504C>T (p.Arg502Cys) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:7040 NM_004562.2(PARK2):c.8-?_171+?del NCBITaxon:9606 Homo sapiens OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred -ClinVarVariant:56171 NM_015268.3(DNAJC13):c.2564A>G (p.Asn855Ser) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:6144 NR_002717.2(ATXN8OS):n.1103_1105CTG(15_40) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:7038 NM_004562.2(PARK2):c.245C>A (p.Ala82Glu) NCBITaxon:9606 Homo sapiens OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred -ClinVarVariant:96731 NM_198578.3(LRRK2):c.7300A>G (p.Ile2434Val) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:3551 NM_004993.5(ATXN3):c.892_894CAG(8_36) (p.Gln298_Gln305=) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:96729 NM_032409.2(PINK1):c.923T>A (p.Leu308Gln) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:96730 NM_198578.3(LRRK2):c.2352C>A (p.Ser784Arg) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:7035 NM_004562.2(PARK2):c.413-?_534+?del NCBITaxon:9606 Homo sapiens OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred -ClinVarVariant:96728 NM_032409.2(PINK1):c.644C>T (p.Pro215Leu) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:38301 NM_001005741.2(GBA):c.1226A>C (p.Asn409Thr) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl|http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:96727 NM_018206.4(VPS35):c.1576C>T (p.Arg526Cys) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:4288 NM_001005741.2(GBA):c.1448T>C (p.Leu483Pro) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:1936 NM_198578.3(LRRK2):c.4321C>G (p.Arg1441Gly) NCBITaxon:9606 Homo sapiens OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred -ClinVarVariant:7050 NM_004562.2(PARK2):c.823C>T (p.Arg275Trp) NCBITaxon:9606 Homo sapiens OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred -ClinVarVariant:9449 NM_003194.4(TBP):c.172_174CAG(25_42) (p.Gln95(25_42)) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:7048 PARK2, 1-BP DEL, 255A NCBITaxon:9606 Homo sapiens OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred +ClinVarVariant:56171 NM_015268.3(DNAJC13):c.2564A>G (p.Asn855Ser) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:168600 Parkinson Disease, Late-Onset PMID:24218364 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +OMIM:602544.0011 PARK2, ALA82GLU OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred +OMIM:602544.0005 PARK2, EX3DEL OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred dbSNP:rs34637584 rs34637584-A NCBITaxon:9606 Homo sapiens OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred -ClinVarVariant:7679 NR4A2, 1-BP DEL, -291T NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:7055 PARK2, EX5-6 DEL NCBITaxon:9606 Homo sapiens OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred -ClinVarVariant:96726 NM_007262.4(PARK7):c.399G>C (p.Met133Ile) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:4335 NM_001005741.2(GBA):c.1444G>A (p.Asp482Asn) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:6078 NM_005460.3(SNCAIP):c.1861C>T (p.Arg621Cys) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:31151 NG_031977.1:g.5321_5326GGGGCC(24_?) NCBITaxon:9606 Homo sapiens OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred -ClinVarVariant:7680 NR4A2, -245T-G NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:14009 SNCA, TRIPLICATION NCBITaxon:9606 Homo sapiens OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred -dbSNP:rs6265 rs6265-C NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct +OMIM:606463.0003 GBA, ASN370SER OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred +OMIM:163890.0003 SNCA, TRIPLICATION OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred +ClinVarVariant:9726 m.3397A>G NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:168600 Parkinson Disease, Late-Onset PMID:7624338 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:29936 NM_012084.3(GLUD2):c.1492T>G (p.Ser498Ala) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:168600 Parkinson Disease, Late-Onset PMID:19826450 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +OMIM:602544.0022 PARK2, EX5-6 DEL OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred +OMIM:602544.0014 PARK2, 1-BP DEL, 255A OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred +OMIM:602544.0017 PARK2, ARG275TRP OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred +ClinVarVariant:225276 NM_198578.3(LRRK2):c.4321C>A (p.Arg1441Ser) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:168600 Parkinson Disease, Late-Onset PMID:27111571 http://data.monarchinitiative.org/ttl/clinvar.ttl direct