Table 3. Variants identified by two independent variant detection pipelines (454 and NG).
Regions shaded in grey and yellow are variant calls that were successfully validated (or were correct). The grey regions indicate known SNPs that were correctly identified and yellow regions indicate true novel variants. Unshaded regions indicate variant calls that were false positives (failed validation). In some cases, variant calls were made at positions that correspond to dbSNPs (dbSNP column). Asterisks indicate dbSNP data that failed to validate. Variants highlighted in red were found to code for non-synonymous changes at the protein level.
| Position | EXONIC | W-39J | W-41J | W-73J | W-20J | W-40J | dbSNP iD | Coverage (number of reads) | Variation% (454/NG) | Team | Validated |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 75953844 | - | CT | rs33389778 | 52 / 48 | 44% / 29% | 454 / NG | Yes | ||||
| 75974741 | - | GA|del | rs33400508 | 88 | 11% | 454 | No | ||||
| 75976331 | - | AC | 21 / 151 | 44% / 46% | 454 / NG | Yes | |||||
| 75977692 | - | AG | rs29824030 | 72 / 90 | 53% / 41% | 454 / NG | Yes | ||||
| 75986373 | - | AG | rs29511147 | 26 / 15 | 31% / 27% | 454 / NG | Yes | ||||
| 76004142 | - | CT | rs29576905 | 46 / 60 | 57% / 53% | 454 / NG | Yes | ||||
| 76005510 | + | CTCTG|del | 89 / 155 | 37% / 39% | 454 / NG | Yes | |||||
| 76005684 | - | CG | rs33344729 | 54 / 65 | 41% / 40% | 454 / NG | Yes | ||||
| 76008975 | - | AT | rs37495474 | 73 / 74 | 55% / 48% | 454 / NG | Yes | ||||
| 76018882 | - | GT|del | rs52182172 rs52174161 |
53 | 11% | 454 | No | ||||
| 76037147 | + | AG | 60 / 72 | 51% / 45% | 454 / NG | Yes | |||||
| 76037177 | + | AC | 45 / 47 | 56% / 44% | 454 / NG | Yes | |||||
| 76037232 | + | AG | 33 / 138 | 44% / 35% | 454 / NG | Yes | |||||
| 76048587 | + | AG | 68 / 108 | 51% / 44% | 454 / NG | Yes | |||||
| 76070262 | - | AG | rs37691247 | 71 / 96 | 49% / 35% | 454 / NG | Yes |