Table 3.
Statistics of SNVs and indels in the coding regions identified in the CASPMI cohort
| Type | AF | Frameshift insertion | Frameshift deletion | Non-frame-shift insertion | Non-frame-shift deletion |
Nonsynonymous SNV |
Synonymous SNV |
Stop gain | Stop loss | Unknown | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| SNV | ≥50% | NA | NA | NA | NA | 5146 | 6029 | 19 | 4 | 247 | 11,445 |
| 5%–50% | NA | NA | NA | NA | 10,806 | 12,320 | 98 | 10 | 379 | 23,613 | |
| 0.5%–5% | NA | NA | NA | NA | 13,593 | 11,345 | 168 | 11 | 305 | 25,422 | |
| <0.5% | NA | NA | NA | NA | 124,339 | 72,302 | 2597 | 103 | 2268 | 201,609 | |
| All | NA | NA | NA | NA | 153,884 | 101,996 | 2882 | 128 | 3199 | 262,089 | |
| Indel | ≥50% | 43 | 47 | 84 | 87 | NA | NA | 2 | 0 | 84 | 347 |
| 5%–50% | 87 | 149 | 150 | 228 | NA | NA | 7 | 2 | 28 | 651 | |
| 0.5%–5% | 173 | 262 | 164 | 448 | NA | NA | 11 | 0 | 22 | 1080 | |
| <0.5% | 1285 | 2945 | 869 | 2534 | NA | NA | 161 | 6 | 140 | 7940 | |
| All | 1588 | 3403 | 1267 | 3297 | NA | NA | 181 | 8 | 274 | 10,018 | |
Note: NA, not applicable.