Variant Annotation Integrator

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Select Genome Assembly and Region

clade genome assembly
region to annotate

Select Variants

If you have more than one custom track or hub track in pgSnp or VCF format, please select the one you wish to annotate:
variants:
maximum number of variants to be processed:

To reset all user cart settings (including custom tracks), click here.

Select Genes

The gene predictions selected here will be used to determine the effect of each variant on genes, for example intronic, missense, splice site, intergenic etc.

Define Filters

Functional role
Include variants annotated as intergenic upstream/downstream of gene in transcript already subject to nonsense-mediated decay (NMD) exon loss caused by deletion 5' or 3' UTR CDS - synonymous coding change CDS - non-synonymous (missense, stop gain/loss, frameshift etc) intron splice site or splice region exon of non-coding gene

Configure Output

output format:
output file: (leave blank to keep output in browser)
file type returned: plain text gzip compressed (ignored if output file is blank)

This tool is for research use only. While this tool is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.

Using the Variant Annotation Integrator


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