SNP / variation download files - field description



Here's more information on the fields in SNP/variation files downloaded from MPD (phenome.jax.org). See also the annotation info page.

chrIndicates the chromosome
bplocThe basepair location in GRCm38 coordinates.
geneA single gene symbol associated with the location, derived from the dbSNP annotation field. If more than one gene is reported at the location, this field will contain [>1gene] and the dbsnp_annot field must be examined.
consequenceVariation effect associated with the location. If more than one variation effect was reported, or if more than one gene is reported at the location, this field will contain [multi], and the dbsnp_annot field must be examined.
dbsnp_annotdbSNP variation annotation in the form varcode:genesym:aa. Variation effect codes are described here. The amino acid product aa is stated for coding sites (one character for Cs, two characters for Cn). Where multiple variation effect terms or genes are reported this construct is repeated and each instance is separated by a plus sign (+). To see transcript IDs and other info you can visit MPD, do a SNP retrieval on the specific location, and then click on the dbSNP rs number, or Sanger (S) linkouts.
dist1

dist2

dist3
These 3 fields taken together are similar to the Distance column in HTML lists, and are available with retrievals based on a gene symbol, location or rs number. Otherwise these fields will be blank.

dist1 is the location's basepair distance relative to the retrieval target.

dist2 indicates relativity to the retrieval target.
  in .... distance within feature (start counting at 5' end)
  up ... distance upstream
  dn ... distance downstream
  fr ..... distance from edge (for retrieval targets with no orientation)

dist3 identifies the retrieval target (gene symbol, rs number, etc.). For chromosome location targets it will simply be loc.
sourceData set source(s). One or more data set citation numbers.
iddbSNP refSNP (rs) number for the location.
observedObserved alleles (or SV type information for SVs). [More info].



strain calls




One field for each strain. [More info].



In text files "Blank" is represented as a single equals sign (=).
In csv files "Blank" is represented as a zero-length field.