442e433a90b25deb87f10e6cf1b7b608bb0a6d67 max Sat Sep 26 21:56:06 2026 -0700 sfariSparkWgs45kAsd: flag 25M insertions of non-human (oral bacteria) sequence as FILTER NonHumanIns and hide them by default; add SFARI SPARK 45k WGS to the combined tracks without those insertions and relabel the 12k pilot as SFARI SPARK iWGS v1.1 Pilot, refs #38424 diff --git src/hg/makeDb/trackDb/human/varFreqsBackground.html src/hg/makeDb/trackDb/human/varFreqsBackground.html index 56fdfc599b7..6ab74cc94ac 100644 --- src/hg/makeDb/trackDb/human/varFreqsBackground.html +++ src/hg/makeDb/trackDb/human/varFreqsBackground.html @@ -2,32 +2,35 @@

This track shows small variants (SNVs and short indels) seen in population reference cohorts and in unaffected or control individuals of disease-study cohorts, annotated with their predicted protein consequence and colored by severity. It is the background half of a matched pair: the companion Disease cohorts track shows the same kind of variants seen in affected or case individuals. Displaying the two together lets you see how common a variant is in the general/unaffected population compared with affected individuals. For the full list of contributing projects, see the SNV Frequencies collection page.

The background combines two kinds of data: the population/biobank reference cohorts (such as gnomAD HGDP+1kG, TOPMed, ALFA, HRC and the many national WGS projects), and the unaffected/control or unknown-phenotype arms of the disease-study cohorts (non-ASD family -members in SFARI SPARK WES/WGS, SCHEMA controls, and GREGoR unaffected/unknown -participants). Genotyping-array cohorts are not included. A variant that also appears in +members in SFARI SPARK WES, iWGS v1.1 Pilot and 45k WGS, SCHEMA controls, and GREGoR +unaffected/unknown participants). Genotyping-array cohorts are not included. From SFARI +SPARK 45k WGS, the 25 million insertions flagged as non-human sequence (FILTER NonHumanIns, +mostly oral bacteria DNA from the saliva samples, see the +subtrack's description) were left out. A variant that also appears in affected individuals is shown in both this track and the Disease cohorts track.

Display Conventions

Color by Consequence

Variants are colored by their most severe predicted consequence:

ColorConsequence classExamples
  Protein-truncating / loss-of-function stop_gained, frameshift, splice_donor, splice_acceptor, stop_lost, start_lost
  Missense / in-frame missense, inframe_insertion, inframe_deletion, protein_altering