Entering edit mode
16 months ago
curious
▴
820
I am trying to convert some HGVS to chrom:pos:ref:alt format. I was thinking to use jannovar
. As per the documentation I run:
jannovar download -d hg19/refseq
which gives me this:
Options
JannovarDownloadOptions [downloadDir=data, getDataSourceFiles()=[bundle:///default_sources.ini], isReportProgress()=true, getHttpProxy()=null, getHttpsProxy()=null, getFtpProxy()=null, geneIdentifiers=[], outputFile=]
Downloading/parsing for data source "hg19/refseq"
INFO Downloading data...
INFO Downloading https://ftp.ncbi.nlm.nih.gov/genomes/archive/old_refseq/H_sapiens/ARCHIVE/ANNOTATION_RELEASE.105/GFF/ref_GRCh37.p13_top_level.gff3.gz
INFO Creating directory data/hg19/refseq
[==================================================] 100%
INFO Downloaded file ref_GRCh37.p13_top_level.gff3.gz looks like a valid gzip'ed file
INFO Downloading https://ftp.ncbi.nlm.nih.gov/genomes/archive/old_refseq/H_sapiens/ARCHIVE/ANNOTATION_RELEASE.105/RNA/rna.fa.gz
[==================================================] 100%
INFO Downloaded file rna.fa.gz looks like a valid gzip'ed file
INFO Downloading http://hgdownload.soe.ucsc.edu/goldenPath/hg19/database/chromInfo.txt.gz
[==================================================] 100%
INFO Downloaded file chromInfo.txt.gz looks like a valid gzip'ed file
INFO Downloading https://ftp.ncbi.nlm.nih.gov/genomes/archive/old_refseq/Homo_sapiens/ARCHIVE/ANNOTATION_RELEASE.105/Assembled_chromosomes/chr_accessions_GRCh37.p13
[==================================================] 100%
INFO Downloading https://www.ncbi.nlm.nih.gov/sviewer/viewer.cgi?save=file&db=nuccore&report=fasta&id=251831106
INFO (server did not tell us the file size, no progress bar)
INFO Downloading http://ftp.ebi.ac.uk/pub/databases/genenames/new/tsv/hgnc_complete_set.txt
[==================================================] 100%
INFO Building ReferenceDictionary...
Exception in thread "main" java.lang.IllegalArgumentException: Multiple entries with same key: 25=16569 and 25=16571
at com.google.common.collect.ImmutableMap.checkNoConflict(ImmutableMap.java:190)
at com.google.common.collect.RegularImmutableMap.checkNoConflictInKeyBucket(RegularImmutableMap.java:109)
at com.google.common.collect.RegularImmutableMap.fromEntryArray(RegularImmutableMap.java:95)
at com.google.common.collect.ImmutableMap$Builder.build(ImmutableMap.java:357)
at de.charite.compbio.jannovar.data.ReferenceDictionaryBuilder.build(ReferenceDictionaryBuilder.java:115)
at de.charite.compbio.jannovar.impl.parse.ReferenceDictParser.parse(ReferenceDictParser.java:127)
at de.charite.compbio.jannovar.datasource.JannovarDataFactory.build(JannovarDataFactory.java:101)
at de.charite.compbio.jannovar.cmd.download.DownloadCommand.run(DownloadCommand.java:43)
at de.charite.compbio.jannovar.Jannovar.main(Jannovar.java:74)
It seems to be the same bug that is raised here, but it does not look like they are really maintaining jannovar anymore. Any advice on how to proceed?
known unresolved issue: https://github.com/charite/jannovar/issues/550
Thanks, I referred to that issue in the post