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Preferred Transcripts

You can view and select preferred transcripts and transcript sources. The preferred transcript is displayed in the variant details.

1. Select the Settings icon or select Settings from the Account menu drop-down list.
2. Select a Transcript Preference option to specify the transcript source for each chromosome group (autosomal, allosomal, and mitochondrial).
Ensembl—Variants are annotated using Ensembl (release 81) transcripts.
RefSeq—Variants are annotated using RefSeq (from Ensembl release 81) transcripts.
3. [Optional] Import a preferred transcript file to specify the transcript for individual genes.
  1. Select Edit in the panel for the appropriate reference genome.
  2. Select Choose File. Valid transcript files contain a gene column and a transcript column.
  3. Browse to the preferred transcript file and select Open.
  4. Select Save to upload the file.

The preferred transcript is applied to all cases in the workgroup.