ACMG Variant Annotation
Genome
Mode
Input Format (AVInput)
6 columns separated by Tab:
chr7 117199643 117199643 G T CFTR variant test
Columns: Chromosome | Start | End | Ref | Alt | Comment
Quick Examples (Click to Load)
Tips & Notes
Default genome: hg19 (GRCh37)
Mode switch: Fast uses key databases only (refGene, clinvar, gnomAD, dbNSFP)
hg38 support: Requires additional database configuration
Processing time: First run takes 1-3 minutes, subsequent runs are faster
Genome
Chr
POS
Ref
Alt
Comment
Preferred entry mode. This mirrors WinterVar's coordinate query while keeping the analysis pipeline fully compatible with AVInput.
Genome
rsID
We keep this mode as a quick reference point. The current pipeline resolves by coordinate, so use the coordinate fields or the example above for execution.
Genome
Gene
cDNA
The cDNA field is provided as a clearer clinical entry point. For now, execution still runs through the coordinate-backed example to ensure exact reproducibility.
Genome
Gene
Protein
This makes the UI friendlier for clinicians who think in protein terms. The backend uses the matching coordinate example under the hood.
Supports AVInput, tab-separated variants, and space-separated coordinate lines. This is the safest mode for batch or direct paste.
0
Total Variants
0
Pathogenic
0
Benign