Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Affects function: The variant's effect on the protein's function, in the format 'R/C' where R is the value reported by the source and C is the value concluded by the curator; '+' indicating the variant affects function, '+?' probably affects function, '+*' affects function, not associated with individual's disease phenotype, '#' affects function, not associated with any known disease phenotype, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect not classified.
Location: Location of variant at DNA level; note that the variant location can also be derived from the variant description.
All options:
- 5' gene flanking
- 5' UTR
- Exon
- Intron
- 3' UTR
- 3' gene flanking
Exon: Number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9.
DNA change (cDNA): Description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup.
Position: Position of variant in coding DNA sequence; note that coding DNA position can also be derived from the variant description.
RNA change: Description of variant at RNA level (following HGVS recommendations).
- r.123c>u
- r.? = unknown
- r.(?) = RNA not analysed but probably transcribed copy of DNA variant
- r.spl? = RNA not analysed but variant probably affects splicing
- r.(spl?) = RNA not analysed but variant may affect splicing
- r.0? = change expected to abolish transcription
Protein: Description of variant at protein level (following HGVS recommendations).
- p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
- p.Arg345Pro = change derived from RNA analysis
- p.? = unknown effect
- p.0? = probably no protein produced
PolyPhen: Effect of variant, predicted by PolyPhen.
All options:
- benign = Benign
- possiblyDamaging = Possibly damaging
- probablyDamaging = Probably damaging
- noPrediction = No prediction
GVS function: The functional annotation of this position from the Genome Variation Server.
All options:
- intergenic
- near-gene-5
- utr-5
- coding
- coding-near-splice
- coding-synonymous
- coding-synonymous-near-splice
- codingComplex
- codingComplex-near-splice
- frameshift
- frameshift-near-splice
- missense
- missense-near-splice
- splice-5
- intron
- splice-3
- stop-gained
- stop-gained-near-splice
- stop-lost
- stop-lost-near-splice
- utr-3
- near-gene-3
Splice distance: The distance to the nearest splice site.
SIFT: SIFT Annotation
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