Enter a variant below to see its SpliceAI, Pangolin, and other scores
[more details]

Examples   (on hg38):
chr8-140300616-T-G
6   31740453   G   T
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) [show more examples]
Genome version:
Gencode:
Max distance:
SpliceAI-lookup/issues: issues or feature requests for this website

December 5, 2024
- show PrimateAI-3D, PromoterAI, AlphaMissense and other scores
- provide a table with detailed SpliceAI scores for insertion variants whenever donor or acceptor gain is predicted to occurs within the inserted sequence itself. This addresses issue #84.

MAJOR BUG FIX: Between April and November of 2024, Pangolin scores were incorrectly computed for ~28% of hg38 variants and ~5% of hg19 variants due to a bug related to multiple requests being processed in parallel. This issue has now been fixed.
SpliceAI scores were fine and were not affected by this bug.

[show older updates]

Related web tools:
liftover: for variants/positions/intervals (hg19 <=> hg38 <=> T2T)
TGG Viewer: igv.js-based web viewer for public reference tracks and private data in Google Storage buckets. Has custom track types for RNA-seq splice junctions and gCNV variants.