Scripps Genome ADVISER | Annotation and Distributed Variant Interpretation Server

Variant File Format

The input requirements are solely a list of variants including the chromosome, start position(0-based coordinates), end position(0-based coordinates), and reference and variant alleles - transferred via a network connection for automated processing or provided via a local file.

One of a few standard file formats, including:



Example Input:


1. Chromosome (with syntax: `chr1`, `chr22`, `chrX`, etc.)
Unsupported chromosomes: chrM, chrUn (unmapped), chr7_xyz (alternate haplotype)
2. Start position (0-based coordinates)
3. End position (0-based coordinates)
4. Variant type ('gain' or 'loss')
5. Notes. Arbitrary string data containing no tab characters






Scripps Genome ADVISER | Annotation and Distributed Variant Interpretation Server