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id String | Unique variant ID, the format is chrom:pos:ref:alt |
chromosome String | The chromosome where the genomic variation occurred |
start int | The normalised position where the genomic variation starts |
end int | The normalised position where the genomic variation ends |
reference String | Reference allele |
alternate String | Alternate allele |
ancestralAllele String |
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xrefs List<Xref> |
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hgvs List<String> | Alternate allele |
displayConsequenceType String |
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consequenceTypes List<ConsequenceType> |
geneName String | HGNC gene name | ensemblGeneId String |
| ensemblTranscriptId String |
| strand String |
| biotype String |
| exonOverlap List<ExonOverlap> |
number String |
| percentage float |
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| transcriptAnnotationFlags List<String> |
| cdnaPosition int |
| cdsPosition int |
| codon String |
| proteinVariantAnnotation ProteinVariantAnnotation |
uniprotAccession String |
| uniprotName String |
| position int |
| reference String |
| alternate String |
| uniprotVariantId String |
| functionalDescription String |
| substitutionScores List<Score> |
score double |
| source String |
| description String |
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| keywords List<String> |
| features List<ProteinFeature> |
id String |
| start int |
| end int |
| type String |
| description String |
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| sequenceOntologyTerms List<SequenceOntologyTerm> |
accession String |
| name String |
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populationFrequencies List<PopulationFrequency> |
study String |
| population String |
| refAllele String |
| altAllele String |
| refAlleleFreq float |
| altAlleleFreq float |
| refHomGenotypeFreq float |
| hetGenotypeFreq float |
| altHomGenotypeFreq float |
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minorAllele String |
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minorAlelleFreq float |
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