Table 1.
Summary of variations in genome sequences of eight Caucasian subjects, with data from two previously reported studies[27,40].
| Sample ID | Total number of variants (>q20) | Coding variantsa | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| SNP | Indel | SV | Number of SNPs | Indel | SV | ||||||
| Synonymous (rare homoz) | Missense (rare homoz) | Nonsense | Splice overlap | FS | NFS | Overlapb | |||||
| CHD-1 | 3,722.234 | 641,792 | 4197 | 11,887 (18) | 11,434 (29) | 64 | 76 | 303 | 299 | 125 | 41 |
| CHD-2 | 3,701.558 | 639,005 | 4739 | 11,842 (11) | 11,708 (33) | 60 | 81 | 334 | 290 | 118 | 37 |
| CHD-3 | 3,691.270 | 632,544 | 4033 | 11,912 (9) | 11,488 (31) | 65 | 71 | 279 | 304 | 116 | 37 |
| CHD-4 | 3,691.337 | 633,475 | 4114 | 11.757 (9) | 11,457 (25) | 56 | 90 | 317 | 280 | 106 | 49 |
| CHD-5 | 3,734.820 | 645,032 | 3977 | 11.929 (9) | 11,745 (35) | 62 | 90 | 343 | 307 | 123 | 43 |
| CHD-6 | 3,650.690 | 602,744 | 3916 | 11.560 (12) | 11,285 (37) | 60 | 80 | 342 | 280 | 112 | 32 |
| CHD-7 | 3,643.046 | 597,363 | 4011 | 11.814 (17) | 11,480 (41) | 61 | 85 | 289 | 287 | 109 | 31 |
| CHD-8 | 3,647.944 | 590,064 | 3828 | 11.619 (9) | 11,255 (18) | 54 | 76 | 311 | 281 | 95 | 38 |
| Pelak et al. [28] | 3,473.639 | 609,795 | 805 (CNVs) | - | 11069 | 117 | 99 | 479 | 898 | - | - |
| Shen et al. [40] | 3,307,678 | 421,088 | - | 9,612 | 9,082 | 87 | - | 217 | 164 | - | - |
Abbreviations: CNV: copy number variant; FS: frameshift; NFS: non-frameshift; SV: structural variant.
aThe coding variants were classified based on Gencode version 7.
bOverlap: located within 2 nucleotides of the exon-intron boundary.