Table 2.
Number of variants/genes identified
| Subject 1 | Subject 2 | Shared | |
|---|---|---|---|
| Total variants | 3 629 754 | 3 259 789 | |
| Variants after base quality filtering | 1 334 715 | 1 262 398 | |
| Novel or rare variants (dbSNP129/1000GP queried) | 1 018 297 | 886 839 | |
| Non-synonymous/indel/splice-site variants | 811 | 871 | 303 |
| Genes fitting autosomal recessive model (homozygous or two heterozygous variants) | 190 | 217 | 132 |
| Genes with at least one single nucleotide variant | 11 | 11 | 11a |
| Genes after removal of genes with high mutation rates | 2 | 2 | 2b |
| Genes with plausible function/disease association | 1 | 1 | 1c |
aHLA-A, BC139719, SLC29A3, HRNR, FAM22A, HSP90AB3P, FMN2, BCLAF1, RIMBP3, LILRB3, GSPT1.
bBCLAF1, SLC29A3.
cSLC29A3.