Classification
$
|
Known SNPs
|
Novel SNPs
|
Known indels
|
Novel indels
|
---|
Init Codon | 16 | 0 | 3 | 1 |
Non SNV | 9197 | 193 | | |
Splicing | 68 | 2 | 44 | |
Stopgain | 63 | 4 | 2 | 1 |
Stoploss | 10 | 0 | | |
Synonymous | 10405 | 108 | | |
Unknown | 440 | 1 | 70 | 1 |
Del | - | - | 84 | 3 |
FrameShift Del | - | - | 42 | 8 |
FrameShift Ins | - | - | 32 | 2 |
Ins | - | - | 70 | 5 |
-
$Legends to the class types.
- Splicing, Variant affects a nucleotide that is in a splicing region of a coding transcript.
- Init Codon, Variant changes the start codon.
- Frameshift Ins, An insertion that causes a shift in the codon reading frame.
- Frameshift Del, A deletion that causes a shift in the codon reading frame.
- Frameshift Sub, A substitution that causes a shift in the codon reading frame.
- Stopgain, Variant causes a stop codon to be created at the variant site.
- Stoploss, Variant changes a stop codon to something else.
- Ins, An insertion that does not cause a frameshift.
- Del, A deletion that does not cause a frameshift.
- Sub, A substitution that does not cause a frameshift.
- Nonsyn SNV, A single nucleotide variant that changes the amino acid produced by a codon.
- Synonymous, A variant affecting 1 or more nucleotides that does not change the amino acid sequence.
- Unknown, A problem was found with the protein coding sequence, See Invalid Transcripts.
- SNP & Variation Suite v8.1 (SVS) [Bozeman, MT: Golden Helix, Inc] was used for classifications.