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 | 16 | 23626254 | stop gained | A/T | snv | 8.0E-06 | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 16 | 23626254 | stop gained | A/T | snv | 8.0E-06 | 2.8E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 16 | 23635944 | frameshift variant | -/T | delins | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 16 | 23635944 | frameshift variant | -/T | delins | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 16 | 23621458 | frameshift variant | A/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
16 | 23614092 | splice acceptor variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 16 | 23607969 | frameshift variant | CT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 16 | 23607969 | frameshift variant | CT/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
16 | 23629786 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
0.851 | 0.160 | 16 | 23621428 | missense variant | A/C;G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.160 | 16 | 23621428 | missense variant | A/C;G | snv |
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.160 | 16 | 23621428 | missense variant | A/C;G | snv |
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.160 | 16 | 23621428 | missense variant | A/C;G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 16 | 23603529 | stop gained | C/T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 16 | 23603529 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 16 | 23641145 | frameshift variant | -/A | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
16 | 23607974 | frameshift variant | TT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 16 | 23603584 | stop gained | G/A;C;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 16 | 23635008 | frameshift variant | G/- | del |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 16 | 23641151 | stop gained | C/A;G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 16 | 23641151 | stop gained | C/A;G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
16 | 23638099 | stop gained | C/A | snv | 8.0E-06 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 16 | 23603600 | stop gained | C/T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 16 | 23630075 | frameshift variant | A/- | del |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 16 | 23635177 | stop gained | C/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 |