Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 4 | 1999 | 2010 | |||||||||
|
0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 17 | 43115726 | stop gained | TTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGA/- | del |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.925 | 0.200 | 17 | 43093472 | stop gained | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 13 | 32340440 | stop gained | G/T | snv |
|
0.700 | 1.000 | 1 | 2004 | 2004 | ||||||||||
|
1.000 | 17 | 43092959 | stop gained | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.641 | 0.440 | 17 | 7674894 | stop gained | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.200 | 17 | 43045767 | stop gained | G/A | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.200 | 13 | 32394750 | stop gained | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.701 | 0.360 | 17 | 7673764 | stop gained | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 17 | 43094066 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2004 | 2004 | ||||||||||
|
0.925 | 0.200 | 17 | 43071113 | stop gained | T/A;G | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.200 | 17 | 43094317 | stop gained | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.925 | 0.200 | 17 | 43067649 | stop gained | GTTA/-;GTTAGTTA | delins | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.776 | 0.280 | 13 | 32332877 | stop gained | A/T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.200 | 13 | 32319283 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.790 | 0.240 | 13 | 32340000 | stop gained | C/A;G | snv | 1.6E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.732 | 0.400 | 13 | 32346841 | stop gained | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.763 | 0.320 | 13 | 32394814 | stop gained | C/T | snv | 1.2E-05 | 4.2E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 17 | 43092961 | stop gained | A/T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.925 | 0.200 | 13 | 32339561 | stop gained | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 13 | 32336621 | stop gained | C/G;T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 13 | 32339317 | stop gained | T/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 13 | 32332335 | stop gained | C/G | snv |
|
0.700 | 0 | |||||||||||||
|
17 | 43099781 | stop gained | C/A | snv |
|
0.700 | 0 |