ALT The collection at SCFD1 (chr14). A full-length L1 of about 6 kb is called independently from long reads (HGSVC3, 11.5%), from two short-read cohorts (HMEID 12.2%, SweGen 16.9%), and is recorded in euL1db from seven published studies. The euL1db Ref L1HS track shows a fixed, full-length L1HS copy about 3 kb away.

ALT AVI scores at the TERT locus on hg38, one subtrack per alternate allele. Scores stay high across the highlighted promoter, shown in red as EH38E3622530, and fall to background either side. The two promoter mutations most often seen in cancer sit inside it, beyond the end of every TERT transcript.

ALT Expression of Gap43 across the developmental time course on mm10. Each bar is one sample, colored by tissue and darkening with developmental age. Expression rises through development and is highest in the four neural tissues on the right of the chart.

ALT rs4986893, a CYP2C19 stop-gained variant common in East Asian populations. The mouseover ranks ToMMo Japan, KOVA Korea, and WBBC China at the top, well above the 1.6% pooled background AF.

ALT MPRA Base elements and MPRAVarDB variants at the TERT promoter (chr5, GRCh38/hg38). MPRA Base (top) shows reporter activity for melanoma risk variants tested in HEK293FT and UACC903 cells (Choi et al., 2020). MPRAVarDB (bottom) highlights high-confidence allelic effects from saturation mutagenesis of the TERT promoter (Kircher et al., 2019).

ALT PrimateAI-3D and PromoterAI at the start of HBB on hg38 (chr11:5,226,883-5,227,212). PrimateAI-3D scores every coding missense variant as red (pathogenic) or blue (benign), while the four PromoterAI per-allele bigWig subtracks score every possible non-coding substitution in the 5′ UTR and proximal promoter just upstream of the HBB start codon.