Table 2.
Top 20 variants prioritized for the MS-AE phenotypes using the eXtasy in the AI cases
| Chromosome | Ref base | Alt base | Position | Gene region | eXtasy combined max | eXtasy combined order statistics |
|---|---|---|---|---|---|---|
| X | G | C | 77289124 | ATP7A | 0.952 | 2.57E-13 |
| 10 | C | G | 89692883 | PTEN | 0.866 | 2.76E-13 |
| 12 | G | A | 115118782 | TBX3 | 0.88 | 3.47E-13 |
| 17 | G | A | 7577094 | TP53 | 0.852 | 1.28E-12 |
| 3 | A | T | 49455277 | AMT | 0.936 | 1.34E-12 |
| 9 | G | T | 132576329 | TOR1A | 0.958 | 1.91E-12 |
| 19 | C | G | 41838160 | TGFB1 | 0.874 | 2.26E-12 |
| 10 | A | T | 8115746 | GATA3 | 0.906 | 2.35E-12 |
| 5 | C | T | 174156285 | MSX2 | 0.98 | 2.97E-12 |
| 12 | A | G | 115120669 | TBX3 | 0.846 | 3.16E-12 |
| 17 | C | T | 7577547 | TP53 | 0.892 | 3.70E-12 |
| 12 | G | A | 121431482 | HNF1A | 0.942 | 5.98E-12 |
| 17 | A | C | 7577144 | TP53 | 0.834 | 6.21E-12 |
| 17 | G | A | 7577105 | TP53 | 0.83 | 7.33E-12 |
| 7 | C | G | 5567503 | ACTB | 0.876 | 9.62E-12 |
| 17 | A | G | 7577129 | TP53 | 0.832 | 1.07E-11 |
| 12 | C | T | 110781179 | ATP2A2 | 0.908 | 1.92E-11 |
| 12 | C | A | 121426687 | HNF1A | 0.928 | 2.23E-11 |
| 3 | G | A | 30729932 | TGFBR2 | 0.792 | 4.07E-11 |