3d835ba54509284ec08b63dc527bd114c9467afc angie Tue Nov 12 10:55:41 2019 -0800 Update counts of diffMajor, refIs{Minor,Rare,Singleton}, freqNotRefAlt after fixing VCF allele normalization in dbSnpJsonToTab. refs #23283 diff --git src/hg/makeDb/trackDb/human/dbSnp153Composite.html src/hg/makeDb/trackDb/human/dbSnp153Composite.html index 9c771d1..4df4a35 100644 --- src/hg/makeDb/trackDb/human/dbSnp153Composite.html +++ src/hg/makeDb/trackDb/human/dbSnp153Composite.html @@ -216,32 +216,32 @@
while others may indicate that the reference genome contains a rare variant or sequencing issue:
keyword in data file (dbSnp153.bb) | # in hg19 | # in hg38 | description | ||
---|---|---|---|---|---|
refIsAmbiguous | 101 | 111 | The reference genome allele contains an IUPAC ambiguous base (e.g. 'R' for 'A or G', or 'N' for 'any base'). | ||
refIsMinor | -3277722 | -3364788 | +3269451 | +3356557 | The reference genome allele is not the major allele in at least one project. |
refIsRare | -142937 | -166192 | +135265 | +158562 | The reference genome allele is rare (i.e. allele frequency < 1%). |
refIsSingleton | -44382 | -56491 | +36709 | +48859 | The reference genome allele has never been observed in a population sequencing project reporting frequencies. |
refMismatch | 4 | 33 | The reference genome allele reported by dbSNP differs from the GenBank assembly sequence. This is very rare and in all cases observed so far, the GenBank assembly has an 'N' while the RefSeq assembly used by dbSNP has a less ambiguous character such as 'R'. |
and others may indicate an anomaly or problem with the variant data:
@@ -333,32 +333,32 @@dbSNP has collected genetic variant reports from researchers worldwide for