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 "