| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 11 | 108474788 | 3 prime UTR variant | -/A | ins | 2.4E-05; 0.47 | 0.43 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 7 | 94655777 | intron variant | -/AA;AAA;AAAA | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 7 | 92022864 | protein altering variant | -/AAC | delins | 0.39 | 0.46 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 4 | 1983005 | 3 prime UTR variant | -/AACA;ACA | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 5 | 44933882 | intergenic variant | -/ATG | delins | 0.46 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 10 | 38105003 | intron variant | -/CTTT | delins | 0.40 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 5 | 1296140 | upstream gene variant | -/G | delins | 0.25 |
|
0.700 | 1.000 | 2 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 6 | 166087861 | intergenic variant | -/G | delins | 0.35 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 10 | 121334477 | intergenic variant | -/T | delins | 0.40 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 7 | 92243558 | intron variant | -/T | delins | 0.40 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 16 | 54107654 | intron variant | -/T | delins | 0.26 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 14 | 104745924 | non coding transcript exon variant | -/TT | ins | 0.56 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 3 | 156800879 | intron variant | -/TT | delins | 0.55 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 5 | 123142307 | intron variant | -/TTCAC | delins | 0.72 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 5 | 159008453 | intron variant | A/- | del | 0.25 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 5 | 82217129 | intron variant | A/- | del | 0.19 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 2 | 200849597 | upstream gene variant | A/- | del | 0.15 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.827 | 0.360 | 22 | 28695239 | frameshift variant | A/- | delins | 4.4E-05 | 5.6E-05 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.280 | 13 | 32333284 | frameshift variant | A/-;AA | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 13 | 32332429 | frameshift variant | A/-;AA | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 10 | 22026914 | intergenic variant | A/C | snv | 0.21 |
|
0.700 | 1.000 | 3 | 2013 | 2017 | ||||||||
|
0.925 | 0.080 | 8 | 29652100 | intergenic variant | A/C | snv | 0.66 |
|
0.710 | 1.000 | 3 | 2013 | 2017 | ||||||||
|
1.000 | 0.080 | 1 | 149955122 | intron variant | A/C | snv | 0.29 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
1.000 | 0.080 | 16 | 10609831 | regulatory region variant | A/C | snv | 5.8E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 22 | 28532870 | intron variant | A/C | snv | 1.8E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |