Instructions

1. Select VCF file to upload
2. Specify genome build (default: GRCh37)
3. Optional: Specify genes of interest
4. Optional: Select transcript(s) for each gene
5. Provide email address - required to return results

Workflow

If neither gene(s) nor transcript(s) are selected, VCF calls which map onto transcribed regions of the genome will be retained
If gene(s) are specified, but no transcript(s) are specified, VCF calls which map within the vicinity of the requested gene(s) will be retained
If gene(s) and transcript(s) are specified, VCF calls which map on to the specified transcript(s) will be retained
Results will be returned by the batch validator tool via email
VCF calls will be returned in the format chrX:12345REF>ALT

Fair usage

Batch validation will process a maximum of 20,000 variants
Be aware that for some genes e.g. COL1A1, 1 VCF line will output 1 variant because COL1A1 has a single version of a single transcript variant
For other genes e.g. TP53, 1 VCF line could output up to 15 variants because TP53 has several versions of 8 transcript variants
To avoid exceeding the maximum number of variants we recommend specifying specific genes and specific transcript for each gene
If you are unsure whether your genes of interest are likely to produce multiple variants for each VCF line, submit them to Gene to Transcripts

Upload VCF file

Select Genome Build

Limit search, optionally, to specific genes: Use HGNC gene symbols

Enter email address


On submission, results will be returned by email once processing is complete