| Config |
|
| Hgvs |
HGSV notation
References: http://www.hgvs.org/
|
| HgvsDna |
Coding DNA reference sequence
References http://www.hgvs.org/mutnomen/recs.html
Nucleotide numbering:
- there is no nucleotide 0
- nucleotide 1 is the A of the ATG-translation initiation codon
- the nucleotide 5' of the ATG-translation initiation codon is -1, the previous -2, etc.
|
| HgvsProtein |
Coding change in HGVS notation (amino acid changes)
References: http://www.hgvs.org/mutnomen/recs.html
|
| IntHisto |
Histogram of integer numbers
|
| LossOfFunction |
Analyze if a set of effects are can create a "Loss Of Function"
and "Nonsense mediated decays" effects.
|
| PurityChange |
Analize purity changes in codons and amino acids
|
| SnpEffectPredictor |
Predicts effects of SNPs
|
| VariantEffect |
Effect of a variant.
|
| VariantEffectFusion |
Effect of a structural variant (fusion) affecting two genes
|
| VariantEffects |
A sorted collection of variant effects
|
| VariantEffectStructural |
Effect of a structural variant affecting multiple genes
|
| VcfAnnotatorChain |
Maintains a list of VcfAnnotators and applies them one by one
in the specified order
|