Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.667 | 0.360 | 17 | 7674893 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 1992 | 1992 | |||||||
|
0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 1995 | 1995 | ||||||||
|
0.641 | 0.440 | 17 | 7674888 | missense variant | T/C;G | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 1995 | 1995 | ||||||||
|
0.683 | 0.320 | 17 | 7675077 | missense variant | G/A;C;T | snv | 4.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
17 | 7676171 | missense variant | C/T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||||
|
17 | 7676171 | frameshift variant | C/- | del |
|
Neoplasms | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||||
|
1.000 | 0.080 | 17 | 7675082 | missense variant | G/A;C | snv | 4.0E-06 |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2003 | 2003 | |||||||
|
17 | 7675053 | missense variant | C/T | snv | 7.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.790 | 0.120 | 17 | 7673772 | missense variant | C/G;T | snv | 4.0E-05 | 7.0E-06 |
|
Neoplasms | 0.020 | 1.000 | 2 | 2002 | 2005 | ||||||
|
0.925 | 0.080 | 17 | 7675212 | missense variant | A/G;T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.120 | 17 | 7670669 | missense variant | G/A;T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
17 | 7676113 | missense variant | C/T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
0.742 | 0.400 | 17 | 7674890 | missense variant | T/A;C;G | snv |
|
Neoplasms | 0.020 | 1.000 | 2 | 1991 | 2008 | ||||||||
|
0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.120 | 17 | 7674965 | missense variant | G/A | snv | 2.4E-05 | 7.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.695 | 0.440 | 17 | 7673823 | missense variant | C/A;T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.120 | 17 | 7673255 | synonymous variant | G/A | snv | 5.3E-06 |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||
|
0.742 | 0.240 | 17 | 7676230 | missense variant | G/A;T | snv | 1.2E-03 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.732 | 0.320 | 17 | 7674237 | missense variant | G/A;C | snv |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.160 | 17 | 7670711 | missense variant | C/T | snv | 4.4E-05 | 3.5E-05 |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||
|
0.851 | 0.120 | 17 | 7669626 | missense variant | C/A;T | snv |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
17 | 7675199 | missense variant | G/A;T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
0.851 | 0.160 | 17 | 7674859 | missense variant | C/A;T | snv | 4.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.645 | 0.360 | 17 | 7674216 | missense variant | C/A;G | snv |
|
Neoplasms | 0.050 | 1.000 | 5 | 2001 | 2013 | ||||||||
|
0.882 | 0.280 | 17 | 7675167 | frameshift variant | A/-;AA | delins |
|
Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 |