Small Variants Summary
The small variants analysis summary is available when you select a panel.
|
Statistic |
Definition |
|---|---|
|
Gene |
The genes harboring the variant. |
|
Chr |
The chromosome name. |
|
Position |
The position on the chromosome. |
|
Depth |
The read depth at this position. |
|
Ref |
The reference allele. |
|
Alt |
The alternative allele. |
|
Alt Freq |
The observed alternate allele frequency. |
|
Variant Type |
The specific variant type. For more information, see uswest.ensembl.org/info/genome/variation/predicted_data.html#consequences. |
|
dbSNP |
The dbSNP ID. |
|
COSMIC |
Catalog of somatic mutations in cancer. Because of SNP filtering, some entries are not available on the COSMIC website. For more information, see cancer.sanger.ac.uk/cosmic/analyses. |
|
ClinVar |
The ClinVar annotation. |