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 |