Table 6 SnpEff comparison for exonic variants of NA12878 across the three human reference genome hg19 and hg19KIndel
From: hg19KIndel: ethnicity normalized human reference genome
| Â | hg19 | hg19KIndel |
|---|---|---|
| Â | Number of Variants | |
SNP | 43,321 | 33,030 |
INS | 2247 | 1596 |
DEL | 2086 | 1675 |
| Â | Number of effects by Impacts | |
HIGH | 578 | 309 |
LOW | 25,309 | 19,629 |
MODERATE | 19,247 | 14,365 |
MODIFIER | 125,507 | 95,814 |
| Â | Number of effects by functional class | |
MISSENSE | 18,872 | 14,034 |
NONSENSE | 83 | 77 |
SILENT | 23,560 | 18,180 |