Table 2.
Single nucleotide variants
| Number of SNVs | Total | Not in dbSNP |
|---|---|---|
|
Total |
1,738,213 |
24,122 |
|
Intergenic |
1,060,399 (61%) |
14,526 (60.2%) |
|
Intronic |
596,487 (34%) |
8,010 (33.2%) |
|
ncRNA |
42,414 (2%) |
790 (3.2%) |
|
Splice site |
129 (0.01%) |
0 |
|
Down/upstream |
17,178 (1%) |
346 (1.4%) |
|
UTR3 / UTR5 |
12,979 (1%) |
0 |
|
Exonic |
8,860 (0.5%) |
180 (0.7%) |
|
Exonic, synonymous |
4,457 (0.2%) |
64 (0.2%) |
|
Exonic, non-synonymous |
4,367 (0.2%) |
116 (0.4%) |
| Exon, stop-codon | 21 (<0.01%) | 0 |
The variants are annotated based on their positions relative to RefSeq genes. The left column includes the total number of variants and the fraction of the total number found in each annotation category. The right column indicates the corresponding numbers for variants not found in dbSNP (ver 130). UTR: untranslated region, ncRNA: non-coding RNA, Down/upstream: variant in 1Kbp region up- or downstream or transcription start site.