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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 2 | 214728709 | frameshift variant | CA/- | delins | 3.2E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 6 | 2003 | 2015 | ||||||
|
1.000 | 0.080 | 2 | 214730416 | stop gained | G/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 5 | 2007 | 2016 | ||||||||
|
1.000 | 0.080 | 2 | 214728968 | frameshift variant | CCCAC/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 4 | 2007 | 2016 | ||||||||
|
1.000 | 0.080 | 2 | 214752472 | stop gained | G/A;C | snv | 1.2E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 4 | 2015 | 2016 | |||||||
|
1.000 | 0.080 | 2 | 214752472 | stop gained | G/A;C | snv | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 2015 | 2016 | |||||||
|
1.000 | 0.080 | 2 | 214730416 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 2004 | 2017 | ||||||||
|
1.000 | 0.080 | 2 | 214752424 | splice donor variant | CCAAAGCTAAATCCATACTTACTAC/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2010 | 2012 | ||||||||
|
1.000 | 0.080 | 2 | 214809411 | splice donor variant | C/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2010 | 2012 | ||||||||
|
1.000 | 0.080 | 2 | 214781510 | splice acceptor variant | C/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2010 | 2012 | ||||||||
|
1.000 | 0.080 | 2 | 214728709 | frameshift variant | CA/- | delins | 3.2E-05 | 1.4E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2015 | 2015 | ||||||
|
1.000 | 0.080 | 2 | 214780559 | splice donor variant | C/T | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2010 | 2012 | |||||||
|
1.000 | 0.040 | 2 | 214789163 | intron variant | T/A;C | snv |
|
Neoplasms | 0.800 | 1.000 | 2 | 2009 | 2012 | ||||||||
|
1.000 | 0.080 | 2 | 214797099 | frameshift variant | TC/- | delins | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 2 | 214797099 | frameshift variant | TC/- | delins | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.040 | 2 | 214762673 | intron variant | A/G | snv | 0.42 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.080 | 2 | 214728724 | stop gained | C/T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
1.000 | 0.040 | 2 | 214754055 | intron variant | A/G | snv | 0.31 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.080 | 2 | 214728911 | frameshift variant | C/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.080 | 2 | 214728931 | frameshift variant | -/T | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.080 | 2 | 214767643 | stop gained | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 2 | 214797092 | frameshift variant | A/- | del |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
1.000 | 0.040 | 2 | 214730921 | non coding transcript exon variant | C/T | snv | 0.30 | 0.26 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1.000 | 0.040 | 2 | 214751984 | intron variant | C/T | snv | 0.49 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.080 | 2 | 214780662 | stop gained | G/C | snv | 4.0E-06 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1.000 | 0.080 | 2 | 214728798 | missense variant | T/C | snv | 7.7E-03 | 7.4E-03 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 |