acca3deffc05c4d8d11590a1cf3d893763254712 angie Thu Oct 31 13:43:05 2019 -0700 dbSnp153: Adding new ucscNotes suggested by Ana Benet: clinvar{Benign,Conflicting,Pathogenic}, rareAll, rareSome. refs #23283 diff --git src/hg/lib/bigDbSnp.c src/hg/lib/bigDbSnp.c index 863d8af..8ebf546 100644 --- src/hg/lib/bigDbSnp.c +++ src/hg/lib/bigDbSnp.c @@ -301,53 +301,65 @@ struct symbolDesc { char *symbol; char *description; }; struct symbolDesc ucscNotesDesc[] = { { bdsAltIsAmbiguous, "At least one alternate allele " "contains an IUPAC ambiguous base (e.g. 'R' for 'A or G')." }, { bdsClassMismatch, "Variation class/type is inconsistent with alleles mapped to this genome assembly." }, { bdsClinvar, "Variant is in ClinVar." }, + { bdsClinvarBenign, + "Variant is in ClinVar with clinical significance of benign and/or likely benign." }, + { bdsClinvarConflicting, + "Variant is in ClinVar with reports of both benign and pathogenic significance." }, + { bdsClinvarPathogenic, + "Variant is in ClinVar with clinical significance of pathogenic and/or likely pathogenic." }, { bdsClusterError, "This variant has the same start, end and class as another variant; " "they probably should have been merged into one variant." }, { bdsCommonAll, "Variant is \"common\", i.e. has a Minor Allele Frequency of at least 1% " "in all projects reporting frequencies." }, { bdsCommonSome, "Variant is \"common\", i.e. has a Minor Allele Frequency of at least 1% " "in some, but not all, projects reporting frequencies." }, { bdsDiffMajor, "Different frequency sources have different major alleles " "(see table of allele frequencies above)." }, { bdsFreqIsAmbiguous, "At least one allele reported by at least one project " "contains an IUPAC ambiguous base (e.g. 'R' for 'A or G')." }, { bdsFreqNotRefAlt, "The reference genome allele is not the major allele in at least one project." }, { bdsMultiMap, "This variant has been mapped to more than one distinct genomic location." }, { bdsOverlapDiffClass, "This variant overlaps another variant with a different type/class." }, { bdsOverlapSameClass, "This variant overlaps another with the same type/class but different start/end." }, + { bdsRareAll, + "Variant is \"rare\", i.e. has a Minor Allele Frequency of less than 1% " + "in all projects reporting frequencies, or has been reported without frequency data." }, + { bdsRareSome, + "Variant is \"rare\", i.e. has a Minor Allele Frequency of less than 1% " + "in some, but not all, projects reporting frequencies." }, { bdsRefIsAmbiguous, "The reference genome allele " "contains an IUPAC ambiguous base (e.g. 'R' for 'A or G')." }, { bdsRefIsMinor, "The reference genome allele is not the major allele in at least one project." }, { bdsRefIsRare, "The reference genome allele is rare (i.e. allele frequency < 1%)." }, { bdsRefIsSingleton, "The reference genome allele has never been observed " "in a population sequencing project reporting frequencies." }, { bdsRefMismatch, "The reference genome allele reported by dbSNP differs from the GenBank assembly sequence." }, { bdsRevStrand, "The orientation of the currently viewed reference genome sequence is different from " "the orientation of dbSNP's preferred assembly; alleles are "