OpenSpliceAI / HUMAN GENOME

GRCh38 · PRECOMPUTED VARIANT SCORES

Every scored variant, in context.

Explore splice acceptor and donor gains and losses. Inspect exact alleles, compare model seeds, and see where scoring is available.

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Scored examples

IGV.js · drag tracks to pan; drag the ruler to zoom; use track handles and gear menus to reorder, resize and style tracks. Shift-drag the ruler marks a region.

Exact ALT matrix and matched differences

Aligning exact scores to IGV…

Drag to pan. Shift-drag marks a region. Click selects an allele. Use + / − to zoom; arrows to pan; R marks the view. Native page scroll and pinch zoom remain available.

Views, sessions and additional tracks

Supports BED/GFF, BigWig, indexed VCF and BAM/CRAM. Local files remain on your device; reselect them after restoring a session.

Exact allele records

Allele · 1-based POSPrediction statusScoring gene

Sequence search

N matches A/C/G/T; ambiguous reference bases are not assumed to be known bases.

    Model comparison

    Matches require the same allele and gene and an unambiguous annotation. REF mismatches are excluded. Seed differences are not calibrated uncertainty or a clinical classification.

    Read the tracks

    Scores, offsets and coverage

    DS_AG and DS_AL describe acceptor gain and loss; DS_DG and DS_DL describe donor gain and loss. Scores range from 0 to 1. A recorded zero is different from an absent prediction. The affected genomic position is variant POS + DP on either gene strand. Offsets attached to zero scores remain available as source values; they do not identify a nonzero predicted event.

    At close zoom, the browser fetches exact five-decimal OpenSpliceAI values. Wide views show maxima over annotations in fixed genomic bins. Coverage tracks show input and predicted REF-matching canonical ALT counts separately. Both model processing runs passed their final audits. Missing predictions are explained in the inspector. Published demonstration intervals are separate from the global source collection. Source records can contain repeated alleles, conflicting annotations or a REF mismatch; the inspector preserves those details.

    Models and reference

    r10 and r13 are individual MANE-trained model seeds with a 10,000 nt flank, ±50 bp event search and M1 masking. The original SpliceAI baseline has two-decimal scores and a different annotation set. Exons and strand come from the scoring annotation; transcript IDs and CDS are not present in that table.

    Navigation and exports

    Coordinates in the address field and inspector are 1-based inclusive. Internal intervals and CSV start/end columns are 0-based half-open. Shared links capture the immutable dataset, view, model, track order, heights, filters, appearance and selected allele. Figures export the native IGV tracks. The ALT matrix and inspector retain exact lossless source values. Exact CSV preserves all annotations and missing values; summary CSV contains bin statistics and is labelled separately. Exports wait for a successfully loaded, stable view.