Funcotator Custom Annotation Table Not Working
I am attempting to add MISTIC functional prediction to a VCF using Funcotator. I have constructed a TSV file as follows (in the appropriate directory structure):
Chr Start End ALT_BASES MISTIC_SCORES MISTIC_Predictions
chr1 150991026 150991026 G|A| 0.032969626362195414|0.032942329911215804| B|B|
chr1 145752445 145752445 T|G|C| 0.5307351291992782|0.5575423227259573|0.5307351291992782| D|D|D|
chr1 1431078 1431078 T|G|A| 0.16291235223539433|0.3462216660107844|0.4434115143402344| B|B|B|
The "mistic.config" file follows:
name = mistic
version = 1
src_file = mistic_GRCh37.tsv
origin_location = MISTIC
preprocessing_script =
# Whether this data source is for the b37 reference.
# Required and defaults to false.
isB37DataSource = true
# Supported types:
# simpleXSV -- Arbitrary separated value table (e.g. CSV), keyed off Gene Name OR Transcript ID
# locatableXSV -- Arbitrary separated value table (e.g. CSV), keyed off a genome location
# gencode -- Custom datasource class for GENCODE
# cosmic -- Custom datasource class for COSMIC
# vcf -- Custom datasource class for Variant Call Format (VCF) files
type = locatableXSV
# Required field for GENCODE files.
# Path to the FASTA file from which to load the sequences for GENCODE transcripts:
gencode_fasta_path =
# Required field for GENCODE files.
# NCBI build version (either hg19 or hg38):
ncbi_build_version =
# Required field for simpleXSV files.
# Valid values:
# GENE_NAME
# TRANSCRIPT_ID
xsv_key =
# Required field for simpleXSV files.
# The 0-based index of the column containing the key on which to match
xsv_key_column =
# Required field for simpleXSV AND locatableXSV files.
# The delimiter by which to split the XSV file into columns.
xsv_delimiter = \t
# Required field for simpleXSV files.
# Whether to permissively match the number of columns in the header and data rows
# Valid values:
# true
# false
xsv_permissive_cols =
# Required field for locatableXSV files.
# The 0-based index of the column containing the contig for each row
contig_column = 0
# Required field for locatableXSV files.
# The 0-based index of the column containing the start position for each row
start_column = 1
# Required field for locatableXSV files.
# The 0-based index of the column containing the end position for each row
end_column = 2
I am using GATK version 4.2.6.1
b) Exact command used:
$ java -Xmx1024m -DGATK_STACKTRACE_ON_USER_EXCEPTION=true -jar $LIBPATH/gatk-package-4.2.6.1-local.jar Funcotator \
> --data-sources-path ${ANNOTATIONS} \
> --variant ${TMP}/${f}.LyCEUM.mutect2.filtered.vcf \
> --output ${OUTPATH}/${f}.LyCEUM.SNV.vcf \
> --reference ${HGREF} \
> --ref-version hg19 \
> --output-file-format VCF \
> --remove-filtered-variants false \
> --tmp-dir ${TMP} \
> --transcript-selection-mode BEST_EFFECT
c) Entire program log:
01:21:16.095 INFO NativeLibraryLoader - Loading libgkl_compression.so from jar:file:/home/base/lyceum/rlib/gatk-package-4.2.6.1-local.jar!/com/intel/gkl/native/libgkl_compression.so
01:21:16.454 INFO Funcotator - ------------------------------------------------------------
01:21:16.454 INFO Funcotator - The Genome Analysis Toolkit (GATK) v4.2.6.1
01:21:16.454 INFO Funcotator - For support and documentation go to https://software.broadinstitute.org/gatk/
01:21:16.454 INFO Funcotator - Executing as base@basement-b on Linux v4.15.0-188-generic amd64
01:21:16.455 INFO Funcotator - Java runtime: OpenJDK 64-Bit Server VM v11.0.15+10-Ubuntu-0ubuntu0.18.04.1
01:21:16.455 INFO Funcotator - Start Date/Time: July 4, 2022 at 1:21:16 AM UTC
01:21:16.455 INFO Funcotator - ------------------------------------------------------------
01:21:16.455 INFO Funcotator - ------------------------------------------------------------
01:21:16.456 INFO Funcotator - HTSJDK Version: 2.24.1
01:21:16.456 INFO Funcotator - Picard Version: 2.27.1
01:21:16.456 INFO Funcotator - Built for Spark Version: 2.4.5
01:21:16.456 INFO Funcotator - HTSJDK Defaults.COMPRESSION_LEVEL : 2
01:21:16.456 INFO Funcotator - HTSJDK Defaults.USE_ASYNC_IO_READ_FOR_SAMTOOLS : false
01:21:16.456 INFO Funcotator - HTSJDK Defaults.USE_ASYNC_IO_WRITE_FOR_SAMTOOLS : true
01:21:16.456 INFO Funcotator - HTSJDK Defaults.USE_ASYNC_IO_WRITE_FOR_TRIBBLE : false
01:21:16.457 INFO Funcotator - Deflater: IntelDeflater
01:21:16.457 INFO Funcotator - Inflater: IntelInflater
01:21:16.457 INFO Funcotator - GCS max retries/reopens: 20
01:21:16.457 INFO Funcotator - Requester pays: disabled
01:21:16.457 INFO Funcotator - Initializing engine
01:21:16.732 INFO FeatureManager - Using codec VCFCodec to read file file:///home/data/LyCEUM/analysis/lyceum_pipe/.tmp/MP_22_0027.LyCEUM.mutect2.filtered.vcf
01:21:16.766 INFO Funcotator - Done initializing engine
01:21:16.766 INFO Funcotator - Validating sequence dictionaries...
01:21:16.768 INFO Funcotator - Processing user transcripts/defaults/overrides...
01:21:16.768 INFO Funcotator - Initializing data sources...
01:21:16.770 INFO DataSourceUtils - Initializing data sources from directory: /home/data/references/funcotator_dataSources_LyCEUM
01:21:16.770 WARN DataSourceUtils - Could not read MANIFEST.txt: unable to log data sources version information.
01:21:16.786 INFO DataSourceUtils - Resolved data source file path: file:///home/data/references/funcotator_dataSources_LyCEUM/mistic/hg19/gencode.v34lift37.annotation.REORDERED.gtf -> file:///home/data/references/funcotator_dataSources_LyCEUM/gencode/hg19/gencode.v34lift37.annotation.REORDERED.gtf
01:21:16.786 INFO DataSourceUtils - Resolved data source file path: file:///home/data/references/funcotator_dataSources_LyCEUM/mistic/hg19/gencode.v34lift37.pc_transcripts.fa -> file:///home/data/references/funcotator_dataSources_LyCEUM/gencode/hg19/gencode.v34lift37.pc_transcripts.fa
01:21:16.791 INFO DataSourceUtils - Resolved data source file path: file:///home/data/references/funcotator_dataSources_LyCEUM/mistic/hg19/CosmicCodingMuts.normal.vcf -> file:///home/data/references/funcotator_dataSources_LyCEUM/cosmic/hg19/CosmicCodingMuts.normal.vcf
01:21:16.796 INFO DataSourceUtils - Resolved data source file path: file:///home/data/references/funcotator_dataSources_LyCEUM/mistic/hg19/hgnc_download_Nov302017.tsv -> file:///home/data/references/funcotator_dataSources_LyCEUM/hgnc/hg19/hgnc_download_Nov302017.tsv
01:21:16.800 INFO DataSourceUtils - Resolved data source file path: file:///home/data/references/funcotator_dataSources_LyCEUM/mistic/hg19/CancerGeneCensus_Table_1_full_2012-03-15.txt -> file:///home/data/references/funcotator_dataSources_LyCEUM/cancer_gene_census/hg19/CancerGeneCensus_Table_1_full_2012-03-15.txt
01:21:16.804 INFO DataSourceUtils - Resolved data source file path: file:///home/data/references/funcotator_dataSources_LyCEUM/mistic/hg19/clinvar_20180401.vcf -> file:///home/data/references/funcotator_dataSources_LyCEUM/clinvar/hg19/clinvar_20180401.vcf
01:21:16.807 INFO DataSourceUtils - Resolved data source file path: file:///home/data/references/funcotator_dataSources_LyCEUM/mistic/hg19/mistic_GRCh37.tsv -> file:///home/data/references/funcotator_dataSources_LyCEUM/mistic/hg19/mistic_GRCh37.tsv
01:21:16.811 INFO DataSourceUtils - Resolved data source file path: file:///home/data/references/funcotator_dataSources_LyCEUM/mistic/hg19/gencode_xrefseq_v75_37.tsv -> file:///home/data/references/funcotator_dataSources_LyCEUM/gencode_xrefseq/hg19/gencode_xrefseq_v75_37.tsv
01:21:17.594 INFO DataSourceUtils - Resolved data source file path: file:///home/data/references/funcotator_dataSources_LyCEUM/mistic/hg19/gencode_xhgnc_v75_37.hg19.tsv -> file:///home/data/references/funcotator_dataSources_LyCEUM/gencode_xhgnc/hg19/gencode_xhgnc_v75_37.hg19.tsv
01:21:17.598 INFO DataSourceUtils - Resolved data source file path: file:///home/data/references/funcotator_dataSources_LyCEUM/mistic/hg19/clinvar_hgmd.tsv -> file:///home/data/references/funcotator_dataSources_LyCEUM/clinvar_hgmd/hg19/clinvar_hgmd.tsv
01:21:17.602 INFO DataSourceUtils - Resolved data source file path: file:///home/data/references/funcotator_dataSources_LyCEUM/mistic/hg19/hg19_All_20180423.vcf.gz -> file:///home/data/references/funcotator_dataSources_LyCEUM/dbsnp/hg19/hg19_All_20180423.vcf.gz
01:21:17.602 INFO Funcotator - Finalizing data sources (this step can be long if data sources are cloud-based)...
01:21:17.602 INFO DataSourceUtils - Resolved data source file path: file:///home/data/references/funcotator_dataSources_LyCEUM/mistic/hg19/gencode.v34lift37.annotation.REORDERED.gtf -> file:///home/data/references/funcotator_dataSources_LyCEUM/gencode/hg19/gencode.v34lift37.annotation.REORDERED.gtf
01:21:17.602 INFO DataSourceUtils - Setting lookahead cache for data source: Gencode : 100000
01:21:17.700 INFO FeatureManager - Using codec GencodeGtfCodec to read file file:///home/data/references/funcotator_dataSources_LyCEUM/gencode/hg19/gencode.v34lift37.annotation.REORDERED.gtf
01:21:17.738 INFO DataSourceUtils - Resolved data source file path: file:///home/data/references/funcotator_dataSources_LyCEUM/mistic/hg19/gencode.v34lift37.pc_transcripts.fa -> file:///home/data/references/funcotator_dataSources_LyCEUM/gencode/hg19/gencode.v34lift37.pc_transcripts.fa
01:21:21.378 INFO DataSourceUtils - Resolved data source file path: file:///home/data/references/funcotator_dataSources_LyCEUM/mistic/hg19/CosmicCodingMuts.normal.vcf -> file:///home/data/references/funcotator_dataSources_LyCEUM/cosmic/hg19/CosmicCodingMuts.normal.vcf
01:21:21.378 INFO DataSourceUtils - Setting lookahead cache for data source: cosmic : 100000
01:21:21.826 INFO FeatureManager - Using codec VCFCodec to read file file:///home/data/references/funcotator_dataSources_LyCEUM/cosmic/hg19/CosmicCodingMuts.normal.vcf
01:21:21.931 INFO DataSourceUtils - Resolved data source file path: file:///home/data/references/funcotator_dataSources_LyCEUM/mistic/hg19/CosmicCodingMuts.normal.vcf -> file:///home/data/references/funcotator_dataSources_LyCEUM/cosmic/hg19/CosmicCodingMuts.normal.vcf
01:21:22.087 INFO FeatureManager - Using codec VCFCodec to read file file:///home/data/references/funcotator_dataSources_LyCEUM/cosmic/hg19/CosmicCodingMuts.normal.vcf
01:21:22.216 INFO DataSourceUtils - Resolved data source file path: file:///home/data/references/funcotator_dataSources_LyCEUM/mistic/hg19/hgnc_download_Nov302017.tsv -> file:///home/data/references/funcotator_dataSources_LyCEUM/hgnc/hg19/hgnc_download_Nov302017.tsv
01:21:22.386 INFO DataSourceUtils - Resolved data source file path: file:///home/data/references/funcotator_dataSources_LyCEUM/mistic/hg19/CancerGeneCensus_Table_1_full_2012-03-15.txt -> file:///home/data/references/funcotator_dataSources_LyCEUM/cancer_gene_census/hg19/CancerGeneCensus_Table_1_full_2012-03-15.txt
01:21:22.390 INFO DataSourceUtils - Resolved data source file path: file:///home/data/references/funcotator_dataSources_LyCEUM/mistic/hg19/clinvar_20180401.vcf -> file:///home/data/references/funcotator_dataSources_LyCEUM/clinvar/hg19/clinvar_20180401.vcf
01:21:22.390 INFO DataSourceUtils - Setting lookahead cache for data source: ClinVar_VCF : 100000
01:21:22.489 INFO FeatureManager - Using codec VCFCodec to read file file:///home/data/references/funcotator_dataSources_LyCEUM/clinvar/hg19/clinvar_20180401.vcf
01:21:22.607 INFO DataSourceUtils - Resolved data source file path: file:///home/data/references/funcotator_dataSources_LyCEUM/mistic/hg19/clinvar_20180401.vcf -> file:///home/data/references/funcotator_dataSources_LyCEUM/clinvar/hg19/clinvar_20180401.vcf
01:21:22.813 INFO FeatureManager - Using codec VCFCodec to read file file:///home/data/references/funcotator_dataSources_LyCEUM/clinvar/hg19/clinvar_20180401.vcf
01:21:22.925 INFO DataSourceUtils - Setting lookahead cache for data source: mistic : 100000
01:21:23.030 INFO DataSourceUtils - Resolved data source file path: file:///home/data/references/funcotator_dataSources_LyCEUM/mistic/hg19/mistic_GRCh37.tsv -> file:///home/data/references/funcotator_dataSources_LyCEUM/mistic/hg19/mistic_GRCh37.tsv
01:21:23.031 INFO FeatureManager - Using codec XsvLocatableTableCodec to read file file:///home/data/references/funcotator_dataSources_LyCEUM/mistic/hg19/mistic.config
01:21:23.034 INFO DataSourceUtils - Resolved data source file path: file:///home/data/references/funcotator_dataSources_LyCEUM/mistic/hg19/mistic_GRCh37.tsv -> file:///home/data/references/funcotator_dataSources_LyCEUM/mistic/hg19/mistic_GRCh37.tsv
01:21:23.035 INFO DataSourceUtils - Resolved data source file path: file:///home/data/references/funcotator_dataSources_LyCEUM/mistic/hg19/mistic_GRCh37.tsv -> file:///home/data/references/funcotator_dataSources_LyCEUM/mistic/hg19/mistic_GRCh37.tsv
WARNING 2022-07-04 01:21:23 AsciiLineReader Creating an indexable source for an AsciiFeatureCodec using a stream that is neither a PositionalBufferedStream nor a BlockCompressedInputStream
01:21:23.038 INFO DataSourceUtils - Resolved data source file path: file:///home/data/references/funcotator_dataSources_LyCEUM/mistic/hg19/gencode_xrefseq_v75_37.tsv -> file:///home/data/references/funcotator_dataSources_LyCEUM/gencode_xrefseq/hg19/gencode_xrefseq_v75_37.tsv
01:21:23.253 INFO DataSourceUtils - Setting lookahead cache for data source: gnomAD_genome : 100000
01:21:26.452 INFO FeatureManager - Using codec VCFCodec to read file gs://broad-public-datasets/funcotator/gnomAD_2.1_VCF_INFO_AF_Only/hg19/gnomad.genomes.r2.1.sites.INFO_ANNOTATIONS_FIXED.vcf.bgz
01:21:41.834 INFO FeatureManager - Using codec VCFCodec to read file gs://broad-public-datasets/funcotator/gnomAD_2.1_VCF_INFO_AF_Only/hg19/gnomad.genomes.r2.1.sites.INFO_ANNOTATIONS_FIXED.vcf.bgz
01:21:43.160 INFO DataSourceUtils - Resolved data source file path: file:///home/data/references/funcotator_dataSources_LyCEUM/mistic/hg19/gencode_xhgnc_v75_37.hg19.tsv -> file:///home/data/references/funcotator_dataSources_LyCEUM/gencode_xhgnc/hg19/gencode_xhgnc_v75_37.hg19.tsv
01:21:43.994 INFO DataSourceUtils - Setting lookahead cache for data source: ClinVar : 100000
01:21:44.425 INFO DataSourceUtils - Resolved data source file path: file:///home/data/references/funcotator_dataSources_LyCEUM/mistic/hg19/clinvar_hgmd.tsv -> file:///home/data/references/funcotator_dataSources_LyCEUM/clinvar_hgmd/hg19/clinvar_hgmd.tsv
01:21:44.426 INFO FeatureManager - Using codec XsvLocatableTableCodec to read file file:///home/data/references/funcotator_dataSources_LyCEUM/clinvar_hgmd/hg19/clinvar_hgmd.config
01:21:44.462 INFO DataSourceUtils - Resolved data source file path: file:///home/data/references/funcotator_dataSources_LyCEUM/mistic/hg19/clinvar_hgmd.tsv -> file:///home/data/references/funcotator_dataSources_LyCEUM/clinvar_hgmd/hg19/clinvar_hgmd.tsv
01:21:44.462 INFO DataSourceUtils - Resolved data source file path: file:///home/data/references/funcotator_dataSources_LyCEUM/mistic/hg19/clinvar_hgmd.tsv -> file:///home/data/references/funcotator_dataSources_LyCEUM/clinvar_hgmd/hg19/clinvar_hgmd.tsv
WARNING 2022-07-04 01:21:44 AsciiLineReader Creating an indexable source for an AsciiFeatureCodec using a stream that is neither a PositionalBufferedStream nor a BlockCompressedInputStream
01:21:44.464 INFO DataSourceUtils - Resolved data source file path: file:///home/data/references/funcotator_dataSources_LyCEUM/mistic/hg19/hg19_All_20180423.vcf.gz -> file:///home/data/references/funcotator_dataSources_LyCEUM/dbsnp/hg19/hg19_All_20180423.vcf.gz
01:21:44.464 INFO DataSourceUtils - Setting lookahead cache for data source: dbSNP : 100000
01:21:44.563 INFO FeatureManager - Using codec VCFCodec to read file file:///home/data/references/funcotator_dataSources_LyCEUM/dbsnp/hg19/hg19_All_20180423.vcf.gz
01:21:44.602 INFO DataSourceUtils - Resolved data source file path: file:///home/data/references/funcotator_dataSources_LyCEUM/mistic/hg19/hg19_All_20180423.vcf.gz -> file:///home/data/references/funcotator_dataSources_LyCEUM/dbsnp/hg19/hg19_All_20180423.vcf.gz
01:21:44.755 INFO FeatureManager - Using codec VCFCodec to read file file:///home/data/references/funcotator_dataSources_LyCEUM/dbsnp/hg19/hg19_All_20180423.vcf.gz
01:21:44.860 INFO Funcotator - Initializing Funcotator Engine...
01:21:44.973 INFO FuncotatorUtils - Input VCF has been determined to not based on b37:
01:21:44.973 INFO FuncotatorUtils - The following contigs are present in b37 and missing in the input VCF sequence dictionary:
01:21:44.974 INFO FuncotatorUtils - 1 (len=249250621,assembly=GRCh37)
01:21:44.974 INFO FuncotatorUtils - 2 (len=243199373,assembly=GRCh37)
01:21:44.974 INFO FuncotatorUtils - 3 (len=198022430,assembly=GRCh37)
01:21:44.974 INFO FuncotatorUtils - 4 (len=191154276,assembly=GRCh37)
01:21:44.974 INFO FuncotatorUtils - 5 (len=180915260,assembly=GRCh37)
01:21:44.974 INFO FuncotatorUtils - 6 (len=171115067,assembly=GRCh37)
01:21:44.974 INFO FuncotatorUtils - 7 (len=159138663,assembly=GRCh37)
01:21:44.974 INFO FuncotatorUtils - 8 (len=146364022,assembly=GRCh37)
01:21:44.975 INFO FuncotatorUtils - 9 (len=141213431,assembly=GRCh37)
01:21:44.975 INFO FuncotatorUtils - 10 (len=135534747,assembly=GRCh37)
01:21:44.975 INFO FuncotatorUtils - 11 (len=135006516,assembly=GRCh37)
01:21:44.975 INFO FuncotatorUtils - 12 (len=133851895,assembly=GRCh37)
01:21:44.975 INFO FuncotatorUtils - 13 (len=115169878,assembly=GRCh37)
01:21:44.975 INFO FuncotatorUtils - 14 (len=107349540,assembly=GRCh37)
01:21:44.975 INFO FuncotatorUtils - 15 (len=102531392,assembly=GRCh37)
01:21:44.975 INFO FuncotatorUtils - 16 (len=90354753,assembly=GRCh37)
01:21:44.975 INFO FuncotatorUtils - 17 (len=81195210,assembly=GRCh37)
01:21:44.976 INFO FuncotatorUtils - 18 (len=78077248,assembly=GRCh37)
01:21:44.976 INFO FuncotatorUtils - 19 (len=59128983,assembly=GRCh37)
01:21:44.976 INFO FuncotatorUtils - 20 (len=63025520,assembly=GRCh37)
01:21:44.976 INFO FuncotatorUtils - 21 (len=48129895,assembly=GRCh37)
01:21:44.976 INFO FuncotatorUtils - 22 (len=51304566,assembly=GRCh37)
01:21:44.976 INFO FuncotatorUtils - X (len=155270560,assembly=GRCh37)
01:21:44.976 INFO FuncotatorUtils - Y (len=59373566,assembly=GRCh37)
01:21:44.976 INFO FuncotatorUtils - MT (len=16569,assembly=GRCh37)
01:21:44.976 INFO FuncotatorUtils - GL000207.1 (len=4262,assembly=GRCh37)
01:21:44.976 INFO FuncotatorUtils - GL000226.1 (len=15008,assembly=GRCh37)
01:21:44.977 INFO FuncotatorUtils - GL000229.1 (len=19913,assembly=GRCh37)
01:21:44.977 INFO FuncotatorUtils - GL000231.1 (len=27386,assembly=GRCh37)
01:21:44.977 INFO FuncotatorUtils - GL000210.1 (len=27682,assembly=GRCh37)
01:21:44.977 INFO FuncotatorUtils - GL000239.1 (len=33824,assembly=GRCh37)
01:21:44.977 INFO FuncotatorUtils - GL000235.1 (len=34474,assembly=GRCh37)
01:21:44.977 INFO FuncotatorUtils - GL000201.1 (len=36148,assembly=GRCh37)
01:21:44.978 INFO FuncotatorUtils - GL000247.1 (len=36422,assembly=GRCh37)
01:21:44.978 INFO FuncotatorUtils - GL000245.1 (len=36651,assembly=GRCh37)
01:21:44.978 INFO FuncotatorUtils - GL000197.1 (len=37175,assembly=GRCh37)
01:21:44.978 INFO FuncotatorUtils - GL000203.1 (len=37498,assembly=GRCh37)
01:21:44.978 INFO FuncotatorUtils - GL000246.1 (len=38154,assembly=GRCh37)
01:21:44.978 INFO FuncotatorUtils - GL000249.1 (len=38502,assembly=GRCh37)
01:21:44.979 INFO FuncotatorUtils - GL000196.1 (len=38914,assembly=GRCh37)
01:21:44.979 INFO FuncotatorUtils - GL000248.1 (len=39786,assembly=GRCh37)
01:21:44.979 INFO FuncotatorUtils - GL000244.1 (len=39929,assembly=GRCh37)
01:21:44.979 INFO FuncotatorUtils - GL000238.1 (len=39939,assembly=GRCh37)
01:21:44.979 INFO FuncotatorUtils - GL000202.1 (len=40103,assembly=GRCh37)
01:21:44.979 INFO FuncotatorUtils - GL000234.1 (len=40531,assembly=GRCh37)
01:21:44.980 INFO FuncotatorUtils - GL000232.1 (len=40652,assembly=GRCh37)
01:21:44.980 INFO FuncotatorUtils - GL000206.1 (len=41001,assembly=GRCh37)
01:21:44.980 INFO FuncotatorUtils - GL000240.1 (len=41933,assembly=GRCh37)
01:21:44.980 INFO FuncotatorUtils - GL000236.1 (len=41934,assembly=GRCh37)
01:21:44.981 INFO FuncotatorUtils - GL000241.1 (len=42152,assembly=GRCh37)
01:21:44.981 INFO FuncotatorUtils - GL000243.1 (len=43341,assembly=GRCh37)
01:21:44.981 INFO FuncotatorUtils - GL000242.1 (len=43523,assembly=GRCh37)
01:21:44.981 INFO FuncotatorUtils - GL000230.1 (len=43691,assembly=GRCh37)
01:21:44.981 INFO FuncotatorUtils - GL000237.1 (len=45867,assembly=GRCh37)
01:21:44.982 INFO FuncotatorUtils - GL000233.1 (len=45941,assembly=GRCh37)
01:21:44.982 INFO FuncotatorUtils - GL000204.1 (len=81310,assembly=GRCh37)
01:21:44.982 INFO FuncotatorUtils - GL000198.1 (len=90085,assembly=GRCh37)
01:21:44.982 INFO FuncotatorUtils - GL000208.1 (len=92689,assembly=GRCh37)
01:21:44.983 INFO FuncotatorUtils - GL000191.1 (len=106433,assembly=GRCh37)
01:21:44.983 INFO FuncotatorUtils - GL000227.1 (len=128374,assembly=GRCh37)
01:21:44.983 INFO FuncotatorUtils - GL000228.1 (len=129120,assembly=GRCh37)
01:21:44.983 INFO FuncotatorUtils - GL000214.1 (len=137718,assembly=GRCh37)
01:21:44.984 INFO FuncotatorUtils - GL000221.1 (len=155397,assembly=GRCh37)
01:21:44.984 INFO FuncotatorUtils - GL000209.1 (len=159169,assembly=GRCh37)
01:21:44.984 INFO FuncotatorUtils - GL000218.1 (len=161147,assembly=GRCh37)
01:21:44.984 INFO FuncotatorUtils - GL000220.1 (len=161802,assembly=GRCh37)
01:21:44.984 INFO FuncotatorUtils - GL000213.1 (len=164239,assembly=GRCh37)
01:21:44.985 INFO FuncotatorUtils - GL000211.1 (len=166566,assembly=GRCh37)
01:21:44.985 INFO FuncotatorUtils - GL000199.1 (len=169874,assembly=GRCh37)
01:21:44.985 INFO FuncotatorUtils - GL000217.1 (len=172149,assembly=GRCh37)
01:21:44.985 INFO FuncotatorUtils - GL000216.1 (len=172294,assembly=GRCh37)
01:21:44.985 INFO FuncotatorUtils - GL000215.1 (len=172545,assembly=GRCh37)
01:21:44.985 INFO FuncotatorUtils - GL000205.1 (len=174588,assembly=GRCh37)
01:21:44.985 INFO FuncotatorUtils - GL000219.1 (len=179198,assembly=GRCh37)
01:21:44.985 INFO FuncotatorUtils - GL000224.1 (len=179693,assembly=GRCh37)
01:21:44.985 INFO FuncotatorUtils - GL000223.1 (len=180455,assembly=GRCh37)
01:21:44.985 INFO FuncotatorUtils - GL000195.1 (len=182896,assembly=GRCh37)
01:21:44.985 INFO FuncotatorUtils - GL000212.1 (len=186858,assembly=GRCh37)
01:21:44.985 INFO FuncotatorUtils - GL000222.1 (len=186861,assembly=GRCh37)
01:21:44.985 INFO FuncotatorUtils - GL000200.1 (len=187035,assembly=GRCh37)
01:21:44.985 INFO FuncotatorUtils - GL000193.1 (len=189789,assembly=GRCh37)
01:21:44.985 INFO FuncotatorUtils - GL000194.1 (len=191469,assembly=GRCh37)
01:21:44.986 INFO FuncotatorUtils - GL000225.1 (len=211173,assembly=GRCh37)
01:21:44.986 INFO FuncotatorUtils - GL000192.1 (len=547496,assembly=GRCh37)
01:21:44.986 INFO FuncotatorUtils - NC_007605 (len=171823,assembly=NC_007605.1)
01:21:44.986 INFO FuncotatorEngine - Using given VCF and Reference. No conversion required.
01:21:44.986 INFO Funcotator - Creating a VCF file for output: file:/home/data/LyCEUM/analysis/lyceum_pipe/MP_22_0027.LyCEUM.SNV.vcf
01:21:45.053 INFO ProgressMeter - Starting traversal
01:21:45.053 INFO ProgressMeter - Current Locus Elapsed Minutes Variants Processed Variants/Minute
01:21:51.230 INFO VcfFuncotationFactory - ClinVar_VCF 20180401 cache hits/total: 0/1
01:21:51.230 INFO VcfFuncotationFactory - cosmic 1 cache hits/total: 0/1
01:21:51.230 INFO VcfFuncotationFactory - dbSNP 9606_b151 cache hits/total: 0/1
01:21:51.230 INFO VcfFuncotationFactory - gnomAD_genome 2.1 cache hits/total: 0/1
01:21:51.338 INFO Funcotator - Shutting down engine
[July 4, 2022 at 1:21:55 AM UTC] org.broadinstitute.hellbender.tools.funcotator.Funcotator done. Elapsed time: 0.65 minutes.
Runtime.totalMemory()=1041235968
***********************************************************************
A USER ERROR has occurred: Input file:///home/data/references/funcotator_dataSources_LyCEUM/mistic/hg19/mistic.config must support random access to enable queries by interval. If it's a file, please index it using the bundled tool IndexFeatureFile
***********************************************************************
org.broadinstitute.hellbender.exceptions.UserException: Input file:///home/data/references/funcotator_dataSources_LyCEUM/mistic/hg19/mistic.config must support random access to enable queries by interval. If it's a file, please index it using the bundled tool IndexFeatureFile
at org.broadinstitute.hellbender.engine.FeatureDataSource.queryAndPrefetch(FeatureDataSource.java:580)
at org.broadinstitute.hellbender.engine.FeatureManager.getFeatures(FeatureManager.java:363)
at org.broadinstitute.hellbender.engine.FeatureContext.getValues(FeatureContext.java:173)
at org.broadinstitute.hellbender.tools.funcotator.DataSourceFuncotationFactory.queryFeaturesFromFeatureContext(DataSourceFuncotationFactory.java:314)
at org.broadinstitute.hellbender.tools.funcotator.DataSourceFuncotationFactory.getFeaturesFromFeatureContext(DataSourceFuncotationFactory.java:229)
at org.broadinstitute.hellbender.tools.funcotator.DataSourceFuncotationFactory.createFuncotations(DataSourceFuncotationFactory.java:207)
at org.broadinstitute.hellbender.tools.funcotator.FuncotatorEngine.createFuncotationMapForVariant(FuncotatorEngine.java:178)
at org.broadinstitute.hellbender.tools.funcotator.Funcotator.enqueueAndHandleVariant(Funcotator.java:924)
at org.broadinstitute.hellbender.tools.funcotator.Funcotator.apply(Funcotator.java:878)
at org.broadinstitute.hellbender.engine.VariantWalker.lambda$traverse$0(VariantWalker.java:104)
at java.base/java.util.stream.ForEachOps$ForEachOp$OfRef.accept(ForEachOps.java:183)
at java.base/java.util.stream.ReferencePipeline$3$1.accept(ReferencePipeline.java:195)
at java.base/java.util.stream.ReferencePipeline$2$1.accept(ReferencePipeline.java:177)
at java.base/java.util.stream.ReferencePipeline$3$1.accept(ReferencePipeline.java:195)
at java.base/java.util.Iterator.forEachRemaining(Iterator.java:133)
at java.base/java.util.Spliterators$IteratorSpliterator.forEachRemaining(Spliterators.java:1801)
at java.base/java.util.stream.AbstractPipeline.copyInto(AbstractPipeline.java:484)
at java.base/java.util.stream.AbstractPipeline.wrapAndCopyInto(AbstractPipeline.java:474)
at java.base/java.util.stream.ForEachOps$ForEachOp.evaluateSequential(ForEachOps.java:150)
at java.base/java.util.stream.ForEachOps$ForEachOp$OfRef.evaluateSequential(ForEachOps.java:173)
at java.base/java.util.stream.AbstractPipeline.evaluate(AbstractPipeline.java:234)
at java.base/java.util.stream.ReferencePipeline.forEach(ReferencePipeline.java:497)
at org.broadinstitute.hellbender.engine.VariantWalker.traverse(VariantWalker.java:102)
at org.broadinstitute.hellbender.engine.GATKTool.doWork(GATKTool.java:1085)
at org.broadinstitute.hellbender.cmdline.CommandLineProgram.runTool(CommandLineProgram.java:140)
at org.broadinstitute.hellbender.cmdline.CommandLineProgram.instanceMainPostParseArgs(CommandLineProgram.java:192)
at org.broadinstitute.hellbender.cmdline.CommandLineProgram.instanceMain(CommandLineProgram.java:211)
at org.broadinstitute.hellbender.Main.runCommandLineProgram(Main.java:160)
at org.broadinstitute.hellbender.Main.mainEntry(Main.java:203)
at org.broadinstitute.hellbender.Main.main(Main.java:289)
I have attempted to index the TSV file using:
$ java -Xmx1024m -DGATK_STACKTRACE_ON_USER_EXCEPTION=true -jar $LIBPATH/gatk-package-4.2.6.1-local.jar IndexFeatureFile -I mistic_GRCh37.sort.tsv
Which resulted in the following error report:
01:37:54.996 INFO NativeLibraryLoader - Loading libgkl_compression.so from jar:file:/home/base/lyceum/rlib/gatk-package-4.2.6.1-local.jar!/com/intel/gkl/native/libgkl_compression.so
01:37:55.151 INFO IndexFeatureFile - ------------------------------------------------------------
01:37:55.152 INFO IndexFeatureFile - The Genome Analysis Toolkit (GATK) v4.2.6.1
01:37:55.152 INFO IndexFeatureFile - For support and documentation go to https://software.broadinstitute.org/gatk/
01:37:55.152 INFO IndexFeatureFile - Executing as base@basement-b on Linux v4.15.0-188-generic amd64
01:37:55.152 INFO IndexFeatureFile - Java runtime: OpenJDK 64-Bit Server VM v11.0.15+10-Ubuntu-0ubuntu0.18.04.1
01:37:55.153 INFO IndexFeatureFile - Start Date/Time: July 4, 2022 at 1:37:54 AM UTC
01:37:55.153 INFO IndexFeatureFile - ------------------------------------------------------------
01:37:55.153 INFO IndexFeatureFile - ------------------------------------------------------------
01:37:55.154 INFO IndexFeatureFile - HTSJDK Version: 2.24.1
01:37:55.154 INFO IndexFeatureFile - Picard Version: 2.27.1
01:37:55.154 INFO IndexFeatureFile - Built for Spark Version: 2.4.5
01:37:55.154 INFO IndexFeatureFile - HTSJDK Defaults.COMPRESSION_LEVEL : 2
01:37:55.154 INFO IndexFeatureFile - HTSJDK Defaults.USE_ASYNC_IO_READ_FOR_SAMTOOLS : false
01:37:55.154 INFO IndexFeatureFile - HTSJDK Defaults.USE_ASYNC_IO_WRITE_FOR_SAMTOOLS : true
01:37:55.155 INFO IndexFeatureFile - HTSJDK Defaults.USE_ASYNC_IO_WRITE_FOR_TRIBBLE : false
01:37:55.155 INFO IndexFeatureFile - Deflater: IntelDeflater
01:37:55.155 INFO IndexFeatureFile - Inflater: IntelInflater
01:37:55.155 INFO IndexFeatureFile - GCS max retries/reopens: 20
01:37:55.155 INFO IndexFeatureFile - Requester pays: disabled
01:37:55.155 INFO IndexFeatureFile - Initializing engine
01:37:55.155 INFO IndexFeatureFile - Done initializing engine
01:37:55.158 INFO IndexFeatureFile - Shutting down engine
[July 4, 2022 at 1:37:55 AM UTC] org.broadinstitute.hellbender.tools.IndexFeatureFile done. Elapsed time: 0.00 minutes.
Runtime.totalMemory()=264241152
***********************************************************************
A USER ERROR has occurred: Couldn't read file file:///home/data/references/funcotator_dataSources_LyCEUM/mistic/hg19/mistic_GRCh37.sort.tsv
***********************************************************************
org.broadinstitute.hellbender.exceptions.UserException$CouldNotReadInputFile: Couldn't read file file:///home/data/references/funcotator_dataSources_LyCEUM/mistic/hg19/mistic_GRCh37.sort.tsv
at org.broadinstitute.hellbender.tools.IndexFeatureFile.doWork(IndexFeatureFile.java:67)
at org.broadinstitute.hellbender.cmdline.CommandLineProgram.runTool(CommandLineProgram.java:140)
at org.broadinstitute.hellbender.cmdline.CommandLineProgram.instanceMainPostParseArgs(CommandLineProgram.java:192)
at org.broadinstitute.hellbender.cmdline.CommandLineProgram.instanceMain(CommandLineProgram.java:211)
at org.broadinstitute.hellbender.Main.runCommandLineProgram(Main.java:160)
at org.broadinstitute.hellbender.Main.mainEntry(Main.java:203)
at org.broadinstitute.hellbender.Main.main(Main.java:289)
I have attempted to reformat the tsv as a bed file, which can then be indexed; however this file cannot then be properly parsed by Funcotator.
I would appreciate your help!
-
Hi Etienne Mahe,
Thank you for writing to the GATK Forum! We hope that we can help you solve this problem.
Here are some initial suggestions:
- Confirm that the pathway in the error message is valid.
- Check for any spelling errors in the name of the file.
- Check that you can independently access the file.
- If the file does exist, ensure that you’ve permitted us to access it.
Sometimes these errors are a simple fix; please try the above and let me know if it works. If not, please feel free to reach back out so we can take a deeper dive.
Best,
Anthony
-
Thanks Anthony,
I can confirm your suggestions have been run through and do not solve the problem.
I have identified a less-than-ideal work-around, however. GATK will accept a bed file for indexing. As such, I created an artificial bed file with the reference data that I want GATK to incorporate through Funcotator, with the first line including the fake elements "chr1\t0\t1\t" followed by the headers of the relevant data columns. This does work, as the bed file can be indexed and Funcotator will not complain about a lack of a idx file.
-
Hi Etienne Mahe,
Thanks for trying out those suggestions and providing this feedback! I’m glad you found a workaround, though I would like to fully identify the issue to ensure more ideal workflows in future versions.
Could you please upload a zip/tar file of the folder of data sources that you attempted to create? The development team would like to take a closer look.
For more detailed information on uploading a bug report to our FTP server, click here. Please let me know when you have successfully uploaded the data.
Thank you!
Anthony -
Hi Etienne Mahe,
Please see my updated comment above. It looks as though I gave you some inaccurate information.
Best,
Anthony
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