e4696ced7edf4d0a2a995f203a751a3782cc2f16 lrnassar Fri May 29 15:00:59 2026 -0700 Add EVA SNP Release 9 — unified pipeline for native + GenArk contributed tracks. refs #37517 Adds the unified evaSnp9.py pipeline at src/hg/makeDb/scripts/evaSnp/evaSnp9.py that builds both native UCSC db bigBeds and GenArk contributed bigBeds from one driver, replacing the two separate v8 scripts (evaSnp8.py + evaSnpGenArk.py). Built 40 native + 115 contributed tracks for v9. trackDb: evaSnp9 subtrack added to the evaSnpContainer composite with the new SNV/indel/MNV varClass labels, searchTable stanza, and parent=on/visibility=dense defaults; evaSnp8 left on per QA preference. evaSnpContainer.html: transition note explaining the v9 SO-label refresh (SNV/deletion/insertion/indel/MNV/sequence_alteration replacing the legacy substitution/delins/multipleNucleotideVariant labels in v3-v8) and the new single-most-severe ucscClass convention; SO term list updated to dual-label each entry; download example URL bumped to evaSnp9.bb. Makedoc at src/hg/makeDb/doc/evaSnp9.txt documents the unified build, deploy, and per-clade GenArk make steps. diff --git src/hg/makeDb/trackDb/evaSnp.ra src/hg/makeDb/trackDb/evaSnp.ra index c4bae15c13a..26a2a291414 100644 --- src/hg/makeDb/trackDb/evaSnp.ra +++ src/hg/makeDb/trackDb/evaSnp.ra @@ -1,156 +1,182 @@ track evaSnpContainer shortLabel EVA SNP longLabel Short Genetic Variants from European Variant Archive group varRep type bigBed 9 + compositeTrack on visibility dense track evaSnp shortLabel EVA SNP Release 3 longLabel Short Genetic Variants from European Variant Archive Release 3 type bigBed 9 + parent evaSnpContainer off itemRgb on mouseOver <b>Ref/Alt allele(s)</b>: $ref>$alt<br> <b>Var type</b>: $ucscClass<br> <b>AA change</b>: $aaChange bigDataUrl /gbdb/$D/bbi/evaSnp.bb url https://www.ebi.ac.uk/eva/?variant&accessionID=$$ filterValues.varClass deletion|Deletion,delins|Deletion-Insertion,insertion|Insertion,multipleNucleotideSubstitution|Multiple nucleotide substitution,substitution|Substitution,sequence alteration|Sequence alteration filterLabel.varClass Variant class from EVA SO term filterLabel.ucscClass Functional effect per UCSC Variant Annotation filterValues.ucscClass downstream_gene_variant|Downstream gene variant,upstream_gene_variant|Upstream gene variant,intron_variant|Intron variant,NMD_transcript_variant|Nonsense-mediated mRNA decay (NMD) variant,5_prime_UTR_variant|5 prime UTR variant,3_prime_UTR_variant|3 prime UTR variant,missense_variant|Missense variant,synonymous_variant|Synonymous variant,non_coding_transcript_exon_variant|Non-coding transcript exon variant,no_sequence_alteration|No sequence alteration,splice_region_variant|Splice region variant,frameshift_variant|Frameshift variant,stop_gained|Stop gained,splice_acceptor_variant|Splice acceptor variant,inframe_deletion|Inframe deletion,inframe_insertion|Inframe insertion,splice_donor_variant|Splice donor variant,coding_sequence_variant|Coding sequence variant,initiator_codon_variant|Initiator codon variant,stop_lost|Stop lost,stop_retained_variant|Stop retained variant,intergenic_variant|Intergenic variant filterType.ucscClass multipleListOnlyOr filterValues.itemRgb 255,,0,,0|Protein-altering and splice variants,0,,128,,0|Synonymous variants,0,,0,,255|Non-coding transcripts or UTR variants,0,,0,,0|Intergenic and intronic variants filterLabel.itemRgb General variant types by color grouping maxWindowCoverage 250000 maxItems 1000000 searchTable evaSnp searchType bigBed searchMethod exact padding 20 track evaSnp4 shortLabel EVA SNP Release 4 longLabel Short Genetic Variants from European Variant Archive Release 4 type bigBed 9 + parent evaSnpContainer off visibility hide itemRgb on mouseOver <b>Ref/Alt allele(s)</b>: $ref>$alt<br> <b>Var type</b>: $ucscClass<br> <b>AA change</b>: $aaChange bigDataUrl /gbdb/$D/bbi/evaSnp4.bb url https://www.ebi.ac.uk/eva/?variant&accessionID=$$ filterValues.varClass deletion|Deletion,delins|Deletion-Insertion,insertion|Insertion,multipleNucleotideSubstitution|Multiple nucleotide substitution,substitution|Substitution,sequence alteration|Sequence alteration filterLabel.varClass Variant class from EVA SO term filterLabel.ucscClass Functional effect per UCSC Variant Annotation filterValues.ucscClass downstream_gene_variant|Downstream gene variant,upstream_gene_variant|Upstream gene variant,intron_variant|Intron variant,NMD_transcript_variant|Nonsense-mediated mRNA decay (NMD) variant,5_prime_UTR_variant|5 prime UTR variant,3_prime_UTR_variant|3 prime UTR variant,missense_variant|Missense variant,synonymous_variant|Synonymous variant,non_coding_transcript_exon_variant|Non-coding transcript exon variant,no_sequence_alteration|No sequence alteration,splice_region_variant|Splice region variant,frameshift_variant|Frameshift variant,stop_gained|Stop gained,splice_acceptor_variant|Splice acceptor variant,inframe_deletion|Inframe deletion,inframe_insertion|Inframe insertion,splice_donor_variant|Splice donor variant,coding_sequence_variant|Coding sequence variant,initiator_codon_variant|Initiator codon variant,stop_lost|Stop lost,stop_retained_variant|Stop retained variant,intergenic_variant|Intergenic variant filterType.ucscClass multipleListOnlyOr filterValues.itemRgb 255,,0,,0|Protein-altering and splice variants,0,,128,,0|Synonymous variants,0,,0,,255|Non-coding transcripts or UTR variants,0,,0,,0|Intergenic and intronic variants filterLabel.itemRgb General variant types by color grouping maxWindowCoverage 250000 maxItems 1000000 searchTable evaSnp4 searchType bigBed searchMethod exact padding 20 track evaSnp5 shortLabel EVA SNP Release 5 longLabel Short Genetic Variants from European Variant Archive Release 5 type bigBed 9 + parent evaSnpContainer off itemRgb on mouseOver <b>Ref/Alt allele(s)</b>: $ref>$alt<br> <b>Var type</b>: $ucscClass<br> <b>AA change</b>: $aaChange bigDataUrl /gbdb/$D/bbi/evaSnp5.bb url https://www.ebi.ac.uk/eva/?variant&accessionID=$$ filterValues.varClass deletion|Deletion,delins|Deletion-Insertion,insertion|Insertion,multipleNucleotideSubstitution|Multiple nucleotide substitution,substitution|Substitution,sequence alteration|Sequence alteration filterLabel.varClass Variant class from EVA SO term filterLabel.ucscClass Functional effect per UCSC Variant Annotation filterValues.ucscClass downstream_gene_variant|Downstream gene variant,upstream_gene_variant|Upstream gene variant,intron_variant|Intron variant,NMD_transcript_variant|Nonsense-mediated mRNA decay (NMD) variant,5_prime_UTR_variant|5 prime UTR variant,3_prime_UTR_variant|3 prime UTR variant,missense_variant|Missense variant,synonymous_variant|Synonymous variant,non_coding_transcript_exon_variant|Non-coding transcript exon variant,no_sequence_alteration|No sequence alteration,splice_region_variant|Splice region variant,frameshift_variant|Frameshift variant,stop_gained|Stop gained,splice_acceptor_variant|Splice acceptor variant,inframe_deletion|Inframe deletion,inframe_insertion|Inframe insertion,splice_donor_variant|Splice donor variant,coding_sequence_variant|Coding sequence variant,initiator_codon_variant|Initiator codon variant,stop_lost|Stop lost,stop_retained_variant|Stop retained variant,intergenic_variant|Intergenic variant filterType.ucscClass multipleListOnlyOr filterValues.itemRgb 255,,0,,0|Protein-altering and splice variants,0,,128,,0|Synonymous variants,0,,0,,255|Non-coding transcripts or UTR variants,0,,0,,0|Intergenic and intronic variants filterLabel.itemRgb General variant types by color grouping maxWindowCoverage 250000 maxItems 1000000 searchTable evaSnp5 searchType bigBed searchMethod exact padding 20 track evaSnp6 shortLabel EVA SNP Release 6 longLabel Short Genetic Variants from European Variant Archive Release 6 type bigBed 9 + parent evaSnpContainer off itemRgb on mouseOver <b>Ref/Alt allele(s)</b>: $ref>$alt<br> <b>Var type</b>: $ucscClass<br> <b>AA change</b>: $aaChange bigDataUrl /gbdb/$D/bbi/evaSnp6.bb url https://www.ebi.ac.uk/eva/?variant&accessionID=$$ filterValues.varClass deletion|Deletion,delins|Deletion-Insertion,insertion|Insertion,multipleNucleotideSubstitution|Multiple nucleotide substitution,substitution|Substitution,sequence alteration|Sequence alteration filterLabel.varClass Variant class from EVA SO term filterLabel.ucscClass Functional effect per UCSC Variant Annotation filterValues.ucscClass downstream_gene_variant|Downstream gene variant,upstream_gene_variant|Upstream gene variant,intron_variant|Intron variant,NMD_transcript_variant|Nonsense-mediated mRNA decay (NMD) variant,5_prime_UTR_variant|5 prime UTR variant,3_prime_UTR_variant|3 prime UTR variant,missense_variant|Missense variant,synonymous_variant|Synonymous variant,non_coding_transcript_exon_variant|Non-coding transcript exon variant,no_sequence_alteration|No sequence alteration,splice_region_variant|Splice region variant,frameshift_variant|Frameshift variant,stop_gained|Stop gained,splice_acceptor_variant|Splice acceptor variant,inframe_deletion|Inframe deletion,inframe_insertion|Inframe insertion,splice_donor_variant|Splice donor variant,coding_sequence_variant|Coding sequence variant,initiator_codon_variant|Initiator codon variant,stop_lost|Stop lost,stop_retained_variant|Stop retained variant,intergenic_variant|Intergenic variant filterType.ucscClass multipleListOnlyOr filterValues.itemRgb 255,,0,,0|Protein-altering and splice variants,0,,128,,0|Synonymous variants,0,,0,,255|Non-coding transcripts or UTR variants,0,,0,,0|Intergenic and intronic variants filterLabel.itemRgb General variant types by color grouping maxWindowCoverage 250000 maxItems 1000000 html evaSnpContainer searchTable evaSnp6 searchType bigBed searchMethod exact padding 20 track evaSnp7 shortLabel EVA SNP Release 7 longLabel Short Genetic Variants from European Variant Archive Release 7 type bigBed 9 + parent evaSnpContainer off itemRgb on mouseOver <b>Ref/Alt allele(s)</b>: $ref>$alt<br> <b>Var type</b>: $ucscClass<br> <b>AA change</b>: $aaChange bigDataUrl /gbdb/$D/bbi/evaSnp7.bb url https://www.ebi.ac.uk/eva/?variant&accessionID=$$ filterValues.varClass deletion|Deletion,delins|Deletion-Insertion,insertion|Insertion,multipleNucleotideSubstitution|Multiple nucleotide substitution,substitution|Substitution,sequence alteration|Sequence alteration filterLabel.varClass Variant class from EVA SO term filterLabel.ucscClass Functional effect per UCSC Variant Annotation filterValues.ucscClass downstream_gene_variant|Downstream gene variant,upstream_gene_variant|Upstream gene variant,intron_variant|Intron variant,NMD_transcript_variant|Nonsense-mediated mRNA decay (NMD) variant,5_prime_UTR_variant|5 prime UTR variant,3_prime_UTR_variant|3 prime UTR variant,missense_variant|Missense variant,synonymous_variant|Synonymous variant,non_coding_transcript_exon_variant|Non-coding transcript exon variant,no_sequence_alteration|No sequence alteration,splice_region_variant|Splice region variant,frameshift_variant|Frameshift variant,stop_gained|Stop gained,splice_acceptor_variant|Splice acceptor variant,inframe_deletion|Inframe deletion,inframe_insertion|Inframe insertion,splice_donor_variant|Splice donor variant,coding_sequence_variant|Coding sequence variant,initiator_codon_variant|Initiator codon variant,stop_lost|Stop lost,stop_retained_variant|Stop retained variant,intergenic_variant|Intergenic variant filterType.ucscClass multipleListOnlyOr filterValues.itemRgb 255,,0,,0|Protein-altering and splice variants,0,,128,,0|Synonymous variants,0,,0,,255|Non-coding transcripts or UTR variants,0,,0,,0|Intergenic and intronic variants filterLabel.itemRgb General variant types by color grouping maxWindowCoverage 250000 maxItems 1000000 html evaSnpContainer searchTable evaSnp7 searchType bigBed searchMethod exact padding 20 track evaSnp8 shortLabel EVA SNP Release 8 longLabel Short Genetic Variants from European Variant Archive Release 8 type bigBed 9 + parent evaSnpContainer on visibility dense itemRgb on mouseOver <b>Ref/Alt allele(s)</b>: $ref>$alt<br> <b>Var type</b>: $ucscClass<br> <b>AA change</b>: $aaChange bigDataUrl /gbdb/$D/bbi/evaSnp8.bb url https://www.ebi.ac.uk/eva/?variant&accessionID=$$ filterValues.varClass deletion|Deletion,delins|Deletion-Insertion,insertion|Insertion,multipleNucleotideSubstitution|Multiple nucleotide substitution,substitution|Substitution,sequence alteration|Sequence alteration filterLabel.varClass Variant class from EVA SO term filterLabel.ucscClass Functional effect per UCSC Variant Annotation filterValues.ucscClass downstream_gene_variant|Downstream gene variant,upstream_gene_variant|Upstream gene variant,intron_variant|Intron variant,NMD_transcript_variant|Nonsense-mediated mRNA decay (NMD) variant,5_prime_UTR_variant|5 prime UTR variant,3_prime_UTR_variant|3 prime UTR variant,missense_variant|Missense variant,synonymous_variant|Synonymous variant,non_coding_transcript_exon_variant|Non-coding transcript exon variant,no_sequence_alteration|No sequence alteration,splice_region_variant|Splice region variant,frameshift_variant|Frameshift variant,stop_gained|Stop gained,splice_acceptor_variant|Splice acceptor variant,inframe_deletion|Inframe deletion,inframe_insertion|Inframe insertion,splice_donor_variant|Splice donor variant,coding_sequence_variant|Coding sequence variant,initiator_codon_variant|Initiator codon variant,stop_lost|Stop lost,stop_retained_variant|Stop retained variant,intergenic_variant|Intergenic variant filterType.ucscClass multipleListOnlyOr filterValues.itemRgb 255,,0,,0|Protein-altering and splice variants,0,,128,,0|Synonymous variants,0,,0,,255|Non-coding transcripts or UTR variants,0,,0,,0|Intergenic and intronic variants filterLabel.itemRgb General variant types by color grouping maxWindowCoverage 250000 maxItems 1000000 html evaSnpContainer searchTable evaSnp8 searchType bigBed searchMethod exact padding 2 + +track evaSnp9 +shortLabel EVA SNP Release 9 +longLabel Short Genetic Variants from European Variant Archive Release 9 +type bigBed 9 + +parent evaSnpContainer on +visibility dense +itemRgb on +mouseOver <b>Ref/Alt allele(s)</b>: $ref>$alt<br> <b>Var type</b>: $ucscClass<br> <b>AA change</b>: $aaChange +bigDataUrl /gbdb/$D/bbi/evaSnp9.bb +url https://www.ebi.ac.uk/eva/?variant&accessionID=$$ +filterValues.varClass SNV|SNV,deletion|Deletion,insertion|Insertion,indel|Indel,MNV|MNV,sequence_alteration|Sequence alteration +filterLabel.varClass Variant class from EVA SO term +filterLabel.ucscClass Functional effect per UCSC Variant Annotation +filterValues.ucscClass downstream_gene_variant|Downstream gene variant,upstream_gene_variant|Upstream gene variant,intron_variant|Intron variant,NMD_transcript_variant|Nonsense-mediated mRNA decay (NMD) variant,5_prime_UTR_variant|5 prime UTR variant,3_prime_UTR_variant|3 prime UTR variant,missense_variant|Missense variant,synonymous_variant|Synonymous variant,non_coding_transcript_exon_variant|Non-coding transcript exon variant,no_sequence_alteration|No sequence alteration,splice_region_variant|Splice region variant,frameshift_variant|Frameshift variant,stop_gained|Stop gained,splice_acceptor_variant|Splice acceptor variant,inframe_deletion|Inframe deletion,inframe_insertion|Inframe insertion,splice_donor_variant|Splice donor variant,coding_sequence_variant|Coding sequence variant,initiator_codon_variant|Initiator codon variant,stop_lost|Stop lost,stop_retained_variant|Stop retained variant,intergenic_variant|Intergenic variant +filterType.ucscClass multipleListOnlyOr +filterValues.itemRgb 255,,0,,0|Protein-altering and splice variants,0,,128,,0|Synonymous variants,0,,0,,255|Non-coding transcripts or UTR variants,0,,0,,0|Intergenic and intronic variants +filterLabel.itemRgb General variant types by color grouping +maxWindowCoverage 250000 +maxItems 1000000 +html evaSnpContainer + +searchTable evaSnp9 +searchType bigBed +searchMethod exact +padding 2