Table 3. Number of candidate Indels filtered against several public variation databases.
Feature_Indel | control:II-9 | case:II-2 | case:II-3 | case:II-4 | case:II-7 |
---|---|---|---|---|---|
Total_Indels1 | 16173 | 15403 | 16053 | 15368 | 15772 |
Functional_Indels2 | 2053 | 1976 | 2058 | 1996 | 2089 |
Filtered_DBsnp | 586 | 576 | 582 | 570 | 565 |
Filtered_DBsnp_1000gene | 337 | 346 | 323 | 325 | 327 |
Filtered_DBsnp_1000gene_Hapmap | 337 | 346 | 323 | 325 | 327 |
Filtered_DBsnp_1000gene_Hapmap_YH | 335 | 344 | 321 | 324 | 325 |
Filtered_DBsnp_1000gene_Hapmap_YH_ II-93 | 0 | 159 | 147 | 146 | 151 |
Share_all_cases | 15 | ||||
Housedatabase_filter | 0 |
1Total-Indels detection were performed on the targeted exome regions and flanking regions within 100 bp. Indel types include variants of frameshift, cds-Indel, spliceSite, 5-UTR, 3-UTR, intron, promoter, intergenic.
2Functional_Indels include variants of frameshift, cds-Indel, spliceSite.
3In this step, variants were filtered by mutations of healthy control: II-9.