Beta Release Notes


  • Analyses are currently limited to single sample analyses. Multi-sample analyses are in development.
  • Input file size is limited to ~100mb for now.
  • Input files must be .vcf or .vcf.gz version 4.1 or later; reference genomes hg19 (GRCh37) and GRCh38 are supported.
  • Supported filters include by quality, read depth, genomic region, variant class, predicted effect, clinical significance, and impact score.
  • Filter combinations may be saved as “Presets” for later use with new data sets.
  • Detailed variant view includes links to: iBioGuide, dbSNP, OMIM, MedGen, PubMed, and more.
  • View variants in context of impacted pathways. Pathway view highlights affected genes and provides ability to model miRNAs and drugs.
  • View variants in relation to GO terms. Navigate upstream and downstream to identify specific ontology terms.
  • Share reports with individuals or publicly.
This website intends to use cookies to improve the site and your experience. By continuing to browse the site you are agreeing to accept our use of cookies. For further information, visit our Privacy Policy Page. OK