976e5f5a2582e99913f82839e86efccdca88d814 angie Fri Mar 22 13:12:51 2013 -0700 Adding information from the Database of Non-Synonymous Functional Prediction(dbNSFP, https://sites.google.com/site/jpopgen/dbNSFP, http://dbnsfp.houstonbioinformatics.org/dbNSFPzip/dbNSFP2.0.readme.txt). dbNSFP2.0 contains precomputed predictions from a variety of tools of the effects of all possible missense variants on protein-coding Gencode rel 9 (Ens 64) transcripts. For example, it contains scores and predictions from SIFT, PolyPhen2 and similar tools (MutationTaster, MutationAssessor, LRT), as well as GERP scores at CDS positions and associated domain information from InterPro and IDs from UniProt. Each subset is extracted into a bigBed or bigWig file so that users of the Variant Annotation Integrator will be able to apply one or more of these prediction methods to their variants. refs #6152 diff --git src/hg/lib/dbNsfpSift.as src/hg/lib/dbNsfpSift.as new file mode 100644 index 0000000..4e8f997 --- /dev/null +++ src/hg/lib/dbNsfpSift.as @@ -0,0 +1,15 @@ +table dbNsfpSift +"SIFT scores provided by dbNSFP (http://dbnsfp.houstonbioinformatics.org/)" + ( + string chrom; "Reference sequence chromosome or scaffold" + uint chromStart; "Start position in chromosome" + uint chromEnd; "End position in chromosome" + enum('A','C','G','T') refAl; "Allele found in reference assembly" + lstring ensTxId; "Ensembl transcript ID(s), if dbNSFP has data for >1 transcript set at this position; otherwise '.' to save space" + enum('A','C','G','T') altAl1; "alternate allele #1" + string score1; "SIFT score for altAl1 (or '.' if n/a): < 0.05 is 'Damaging', otherwise 'Tolerated'" + enum('A','C','G','T','.') altAl2; "alternate allele #2" + string score2; "SIFT score for altAl2 (or '.' if n/a): < 0.05 is 'Damaging', otherwise 'Tolerated'" + enum('A','C','G','T','.') altAl3; "alternate allele #3" + string score3; "SIFT score for altAl3 (or '.' if n/a): < 0.05 is 'Damaging', otherwise 'Tolerated'" + )