Issue with Funcotator Datasource 1.8 during variant calling (germline). No variants are matched.
I have been following GATK variant calling. Everything works fine from mapping to Funcotator using data sources with version number 1.7 and reference seq hg38. However, when I download the new data source "funcotator_dataSources.v1.8.hg38.20230908g" it returns zero match. I also redid the whole process (from mapping to funcotation) using hg19 and still got the same result.
No hits:
14:50:58.064 INFO FuncotatorUtils - The following contigs are present in b37 and missing in the input VCF sequence dictionary:
14:50:58.066 INFO FuncotatorUtils - 1 (len=249250621,assembly=GRCh37)...
13:46:25.203 INFO VcfFuncotationFactory - ClinVar_VCF 20230717 cache hits/total: 0/0
13:46:25.204 INFO VcfFuncotationFactory - LMMKnown 20180612 cache hits/total: 0/0
13:46:25.205 INFO Funcotator - Shutting down engine...
I tried lifting to b37tohg19 for the second run and did not change anything. Interestingly lifting or Not lifting didn't change anything. It still cannot find the contigs.
I even matched a clinvar variant in the files. This is an example of a variant I found in my dataset;
chr11 6637739 . ATT A,AT 458.02 PASS AC=1,1;AF=0.500,0.500;AN=2;BaseQRankSum=-0.495;DP=57;ExcessHet=0.0000;FS=0.000;MLEAC=1,1;MLEAF=0.500,0.500;MQ=60.00;MQRankSum=0.000;QD=13.47;ReadPosRankSum=-0.113;SOR=0.836 GT:AD:DP:GQ:PL 1/2:6,13,15:34:99:475,146,271,132,0,158
and this is its corresponding variant in funcotator datasource:
Before liftover:
11 6637739 305512 AT A . . ALLELEID=321432;CLNDISDB=MONDO:MONDO:0008769,MedGen:C1876161,OMIM:204500,Orphanet:168491,Orphanet:228349,Orphanet:79264|MedGen:CN517202|MedGen:CN239323|MedGen:CN169374;CLNDN=Neuronal_ceroid_lipofuscinosis_2|not_provided|Neuronal_Ceroid-Lipofuscinosis,_Recessive|not_specified;CLNHGVS=NC_000011.9:g.6637759del;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Uncertain_significance(2)|Benign(1);CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen:CA5858813;GENEINFO=TPP1:1200;MC=SO:0001627|intron_variant;ORIGIN=1;RS=35039601
after liftover:
chr11 6637739 305512 AT A . PASS ALLELEID=321432;CLNDISDB=MONDO:MONDO:0008769,MedGen:C1876161,OMIM:204500,Orphanet:168491,Orphanet:228349,Orphanet:79264|MedGen:CN517202|MedGen:CN239323|MedGen:CN169374;CLNDN=Neuronal_ceroid_lipofuscinosis_2|not_provided|Neuronal_Ceroid-Lipofuscinosis,_Recessive|not_specified;CLNHGVS=NC_000011.9:g.6637759del;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Uncertain_significance(2)|Benign(1);CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen:CA5858813;GENEINFO=TPP1:1200;MC=SO:0001627|intron_variant;ORIGIN=1;RS=35039601
Thank you,
a) GATK version used: 4.4.0.0
b) Exact command used:
gatk Funcotator \
--variant ${results}/${sampleID}_analysis-ready-snps.vcf \
--reference ${ref} \
--ref-version hg19 \
--data-sources-path ${data_sources_path} \
--output ${results}/${sampleID}_variants_snps.funcotated.vcf \
--output-file-format VCF
c) Entire program log:
$ bash variantCalling.sh
Using GATK jar /home/osman/Desktop/GATK_pipeline/gatk-4.4.0.0/gatk-package-4.4.0.0-local.jar
Running:
java -Dsamjdk.use_async_io_read_samtools=false -Dsamjdk.use_async_io_write_samtools=true -Dsamjdk.use_async_io_write_tribble=false -Dsamjdk.compression_level=2 -jar /home/osman/Desktop/GATK_pipeline/gatk-4.4.0.0/gatk-package-4.4.0.0-local.jar Funcotator --variant /home/osman/Desktop/GATK_pipeline/results/11207400009_analysis-ready-snps.vcf --reference /home/osman/Desktop/GATK_pipeline/supporting/hg19/hg19.fa --ref-version hg19 --data-sources-path /home/osman/Desktop/GATK_pipeline/supporting/data_sources/funcotator_dataSources.v1.8.hg19.20230908g --output /home/osman/Desktop/GATK_pipeline/results/11207400009_variants_snps.funcotated.vcf --output-file-format VCF
13:46:17.144 INFO NativeLibraryLoader - Loading libgkl_compression.so from jar:file:/home/osman/Desktop/GATK_pipeline/gatk-4.4.0.0/gatk-package-4.4.0.0-local.jar!/com/intel/gkl/native/libgkl_compression.so
13:46:17.176 INFO Funcotator - ------------------------------------------------------------
13:46:17.179 INFO Funcotator - The Genome Analysis Toolkit (GATK) v4.4.0.0
13:46:17.179 INFO Funcotator - For support and documentation go to https://software.broadinstitute.org/gatk/
13:46:17.179 INFO Funcotator - Executing as osman@BEETHOVEN on Linux v5.4.0-144-generic amd64
13:46:17.179 INFO Funcotator - Java runtime: OpenJDK 64-Bit Server VM v17.0.7+7-Ubuntu-0ubuntu118.04
13:46:17.179 INFO Funcotator - Start Date/Time: October 19, 2023 at 1:46:17 PM TRT
13:46:17.179 INFO Funcotator - ------------------------------------------------------------
13:46:17.179 INFO Funcotator - ------------------------------------------------------------
13:46:17.180 INFO Funcotator - HTSJDK Version: 3.0.5
13:46:17.180 INFO Funcotator - Picard Version: 3.0.0
13:46:17.181 INFO Funcotator - Built for Spark Version: 3.3.1
13:46:17.181 INFO Funcotator - HTSJDK Defaults.COMPRESSION_LEVEL : 2
13:46:17.181 INFO Funcotator - HTSJDK Defaults.USE_ASYNC_IO_READ_FOR_SAMTOOLS : false
13:46:17.181 INFO Funcotator - HTSJDK Defaults.USE_ASYNC_IO_WRITE_FOR_SAMTOOLS : true
13:46:17.181 INFO Funcotator - HTSJDK Defaults.USE_ASYNC_IO_WRITE_FOR_TRIBBLE : false
13:46:17.181 INFO Funcotator - Deflater: IntelDeflater
13:46:17.181 INFO Funcotator - Inflater: IntelInflater
13:46:17.182 INFO Funcotator - GCS max retries/reopens: 20
13:46:17.182 INFO Funcotator - Requester pays: disabled
13:46:17.182 INFO Funcotator - Initializing engine
13:46:17.288 INFO FeatureManager - Using codec VCFCodec to read file file:///home/osman/Desktop/GATK_pipeline/results/11207400009_analysis-ready-snps.vcf
13:46:17.336 INFO Funcotator - Done initializing engine
13:46:17.337 INFO Funcotator - Validating sequence dictionaries...
13:46:17.338 INFO Funcotator - Processing user transcripts/defaults/overrides...
13:46:17.339 INFO Funcotator - Initializing data sources...
13:46:17.340 INFO DataSourceUtils - Initializing data sources from directory: /home/osman/Desktop/GATK_pipeline/supporting/data_sources/funcotator_dataSources.v1.8.hg19.20230908g
13:46:17.340 WARN DataSourceUtils - README file has improperly formatted version string: Version: v1.8.hg19.20230908g
13:46:17.341 WARN DataSourceUtils - Unable to read version information from data sources info/readme file: file:///home/osman/Desktop/GATK_pipeline/supporting/data_sources/funcotator_dataSources.v1.8.hg19.20230908g/MANIFEST.txt
13:46:17.341 INFO DataSourceUtils - Data sources source: ftp://gsapubftp-anonymous@ftp.broadinstitute.org/bundle/funcotator/funcotator_dataSources.v1.8.hg19.20230908g.tar.gz
13:46:17.341 INFO DataSourceUtils - Data sources alternate source: gs://broad-public-datasets/funcotator/funcotator_dataSources.v1.8.hg19.20230908g.tar.gz
13:46:17.344 INFO DataSourceUtils - Resolved data source file path: file:///home/osman/Desktop/GATK_pipeline/clinvar_20230717.vcf -> file:///home/osman/Desktop/GATK_pipeline/supporting/data_sources/funcotator_dataSources.v1.8.hg19.20230908g/clinvar/hg19/clinvar_20230717.vcf
13:46:17.345 INFO DataSourceUtils - Resolved data source file path: file:///home/osman/Desktop/GATK_pipeline/acmg59_test_cleaned.txt -> file:///home/osman/Desktop/GATK_pipeline/supporting/data_sources/funcotator_dataSources.v1.8.hg19.20230908g/acmg_rec/hg19/acmg59_test_cleaned.txt
13:46:17.345 INFO DataSourceUtils - Resolved data source file path: file:///home/osman/Desktop/GATK_pipeline/gencode.v43lift37.annotation.REORDERED.gtf -> file:///home/osman/Desktop/GATK_pipeline/supporting/data_sources/funcotator_dataSources.v1.8.hg19.20230908g/gencode/hg19/gencode.v43lift37.annotation.REORDERED.gtf
13:46:17.346 INFO DataSourceUtils - Resolved data source file path: file:///home/osman/Desktop/GATK_pipeline/gencode.v43lift37.pc_transcripts.fa -> file:///home/osman/Desktop/GATK_pipeline/supporting/data_sources/funcotator_dataSources.v1.8.hg19.20230908g/gencode/hg19/gencode.v43lift37.pc_transcripts.fa
13:46:17.346 INFO DataSourceUtils - Resolved data source file path: file:///home/osman/Desktop/GATK_pipeline/LMM_Path_LP_VUS5-variants-6-12-18.sorted.vcf -> file:///home/osman/Desktop/GATK_pipeline/supporting/data_sources/funcotator_dataSources.v1.8.hg19.20230908g/lmm_known/hg19/LMM_Path_LP_VUS5-variants-6-12-18.sorted.vcf
13:46:17.347 INFO DataSourceUtils - Resolved data source file path: file:///home/osman/Desktop/GATK_pipeline/acmg_lof.tsv -> file:///home/osman/Desktop/GATK_pipeline/supporting/data_sources/funcotator_dataSources.v1.8.hg19.20230908g/acmg_lof/hg19/acmg_lof.tsv
13:46:17.347 INFO Funcotator - Finalizing data sources (this step can be long if data sources are cloud-based)...
13:46:17.347 INFO DataSourceUtils - Resolved data source file path: file:///home/osman/Desktop/GATK_pipeline/clinvar_20230717.vcf -> file:///home/osman/Desktop/GATK_pipeline/supporting/data_sources/funcotator_dataSources.v1.8.hg19.20230908g/clinvar/hg19/clinvar_20230717.vcf
13:46:17.349 INFO DataSourceUtils - Setting lookahead cache for data source: ClinVar_VCF : 100000
13:46:17.351 INFO FeatureManager - Using codec VCFCodec to read file file:///home/osman/Desktop/GATK_pipeline/supporting/data_sources/funcotator_dataSources.v1.8.hg19.20230908g/clinvar/hg19/clinvar_20230717.vcf
13:46:17.411 INFO DataSourceUtils - Resolved data source file path: file:///home/osman/Desktop/GATK_pipeline/clinvar_20230717.vcf -> file:///home/osman/Desktop/GATK_pipeline/supporting/data_sources/funcotator_dataSources.v1.8.hg19.20230908g/clinvar/hg19/clinvar_20230717.vcf
13:46:17.457 INFO FeatureManager - Using codec VCFCodec to read file file:///home/osman/Desktop/GATK_pipeline/supporting/data_sources/funcotator_dataSources.v1.8.hg19.20230908g/clinvar/hg19/clinvar_20230717.vcf
13:46:17.529 INFO DataSourceUtils - Resolved data source file path: file:///home/osman/Desktop/GATK_pipeline/acmg59_test_cleaned.txt -> file:///home/osman/Desktop/GATK_pipeline/supporting/data_sources/funcotator_dataSources.v1.8.hg19.20230908g/acmg_rec/hg19/acmg59_test_cleaned.txt
13:46:17.531 INFO DataSourceUtils - Resolved data source file path: file:///home/osman/Desktop/GATK_pipeline/gencode.v43lift37.annotation.REORDERED.gtf -> file:///home/osman/Desktop/GATK_pipeline/supporting/data_sources/funcotator_dataSources.v1.8.hg19.20230908g/gencode/hg19/gencode.v43lift37.annotation.REORDERED.gtf
13:46:17.531 INFO DataSourceUtils - Setting lookahead cache for data source: Gencode : 100000
13:46:17.534 WARN GencodeGtfCodec - GENCODE GTF Header line 1 has a version number that is above maximum tested version (v 34) (given: 43): ##description: evidence-based annotation of the human genome (GRCh38), version 43 (Ensembl 109), mapped to GRCh37 with gencode-backmap Continuing, but errors may occur.
13:46:17.534 WARN GencodeGtfCodec - GENCODE GTF Header line 1 has a version number that is above maximum tested version (v 34) (given: 43): ##description: evidence-based annotation of the human genome (GRCh38), version 43 (Ensembl 109), mapped to GRCh37 with gencode-backmap Continuing, but errors may occur.
13:46:17.535 INFO FeatureManager - Using codec EnsemblGtfCodec to read file file:///home/osman/Desktop/GATK_pipeline/supporting/data_sources/funcotator_dataSources.v1.8.hg19.20230908g/gencode/hg19/gencode.v43lift37.annotation.REORDERED.gtf
13:46:17.543 INFO DataSourceUtils - Resolved data source file path: file:///home/osman/Desktop/GATK_pipeline/gencode.v43lift37.pc_transcripts.fa -> file:///home/osman/Desktop/GATK_pipeline/supporting/data_sources/funcotator_dataSources.v1.8.hg19.20230908g/gencode/hg19/gencode.v43lift37.pc_transcripts.fa
13:46:20.260 INFO DataSourceUtils - Resolved data source file path: file:///home/osman/Desktop/GATK_pipeline/LMM_Path_LP_VUS5-variants-6-12-18.sorted.vcf -> file:///home/osman/Desktop/GATK_pipeline/supporting/data_sources/funcotator_dataSources.v1.8.hg19.20230908g/lmm_known/hg19/LMM_Path_LP_VUS5-variants-6-12-18.sorted.vcf
13:46:20.260 INFO DataSourceUtils - Setting lookahead cache for data source: LMMKnown : 100000
13:46:20.262 INFO FeatureManager - Using codec VCFCodec to read file file:///home/osman/Desktop/GATK_pipeline/supporting/data_sources/funcotator_dataSources.v1.8.hg19.20230908g/lmm_known/hg19/LMM_Path_LP_VUS5-variants-6-12-18.sorted.vcf
13:46:20.265 INFO DataSourceUtils - Resolved data source file path: file:///home/osman/Desktop/GATK_pipeline/LMM_Path_LP_VUS5-variants-6-12-18.sorted.vcf -> file:///home/osman/Desktop/GATK_pipeline/supporting/data_sources/funcotator_dataSources.v1.8.hg19.20230908g/lmm_known/hg19/LMM_Path_LP_VUS5-variants-6-12-18.sorted.vcf
13:46:20.269 INFO FeatureManager - Using codec VCFCodec to read file file:///home/osman/Desktop/GATK_pipeline/supporting/data_sources/funcotator_dataSources.v1.8.hg19.20230908g/lmm_known/hg19/LMM_Path_LP_VUS5-variants-6-12-18.sorted.vcf
13:46:20.272 INFO DataSourceUtils - Resolved data source file path: file:///home/osman/Desktop/GATK_pipeline/acmg_lof.tsv -> file:///home/osman/Desktop/GATK_pipeline/supporting/data_sources/funcotator_dataSources.v1.8.hg19.20230908g/acmg_lof/hg19/acmg_lof.tsv
13:46:20.273 INFO Funcotator - Initializing Funcotator Engine...
13:46:20.280 INFO FuncotatorUtils - Input VCF has been determined to not based on b37:
13:46:20.280 INFO FuncotatorUtils - The following contigs are present in b37 and missing in the input VCF sequence dictionary:
13:46:20.282 INFO FuncotatorUtils - 1 (len=249250621,assembly=GRCh37)
13:46:20.283 INFO FuncotatorUtils - 2 (len=243199373,assembly=GRCh37)
13:46:20.283 INFO FuncotatorUtils - 3 (len=198022430,assembly=GRCh37)
13:46:20.283 INFO FuncotatorUtils - 4 (len=191154276,assembly=GRCh37)
13:46:20.283 INFO FuncotatorUtils - 5 (len=180915260,assembly=GRCh37)
13:46:20.283 INFO FuncotatorUtils - 6 (len=171115067,assembly=GRCh37)
13:46:20.283 INFO FuncotatorUtils - 7 (len=159138663,assembly=GRCh37)
13:46:20.283 INFO FuncotatorUtils - 8 (len=146364022,assembly=GRCh37)
13:46:20.283 INFO FuncotatorUtils - 9 (len=141213431,assembly=GRCh37)
13:46:20.283 INFO FuncotatorUtils - 10 (len=135534747,assembly=GRCh37)
13:46:20.283 INFO FuncotatorUtils - 11 (len=135006516,assembly=GRCh37)
13:46:20.283 INFO FuncotatorUtils - 12 (len=133851895,assembly=GRCh37)
13:46:20.283 INFO FuncotatorUtils - 13 (len=115169878,assembly=GRCh37)
13:46:20.283 INFO FuncotatorUtils - 14 (len=107349540,assembly=GRCh37)
13:46:20.283 INFO FuncotatorUtils - 15 (len=102531392,assembly=GRCh37)
13:46:20.283 INFO FuncotatorUtils - 16 (len=90354753,assembly=GRCh37)
13:46:20.283 INFO FuncotatorUtils - 17 (len=81195210,assembly=GRCh37)
13:46:20.283 INFO FuncotatorUtils - 18 (len=78077248,assembly=GRCh37)
13:46:20.284 INFO FuncotatorUtils - 19 (len=59128983,assembly=GRCh37)
13:46:20.284 INFO FuncotatorUtils - 20 (len=63025520,assembly=GRCh37)
13:46:20.284 INFO FuncotatorUtils - 21 (len=48129895,assembly=GRCh37)
13:46:20.284 INFO FuncotatorUtils - 22 (len=51304566,assembly=GRCh37)
13:46:20.284 INFO FuncotatorUtils - X (len=155270560,assembly=GRCh37)
13:46:20.284 INFO FuncotatorUtils - Y (len=59373566,assembly=GRCh37)
13:46:20.284 INFO FuncotatorUtils - MT (len=16569,assembly=GRCh37)
13:46:20.284 INFO FuncotatorUtils - GL000207.1 (len=4262,assembly=GRCh37)
13:46:20.284 INFO FuncotatorUtils - GL000226.1 (len=15008,assembly=GRCh37)
13:46:20.284 INFO FuncotatorUtils - GL000229.1 (len=19913,assembly=GRCh37)
13:46:20.284 INFO FuncotatorUtils - GL000231.1 (len=27386,assembly=GRCh37)
13:46:20.284 INFO FuncotatorUtils - GL000210.1 (len=27682,assembly=GRCh37)
13:46:20.284 INFO FuncotatorUtils - GL000239.1 (len=33824,assembly=GRCh37)
13:46:20.284 INFO FuncotatorUtils - GL000235.1 (len=34474,assembly=GRCh37)
13:46:20.284 INFO FuncotatorUtils - GL000201.1 (len=36148,assembly=GRCh37)
13:46:20.284 INFO FuncotatorUtils - GL000247.1 (len=36422,assembly=GRCh37)
13:46:20.284 INFO FuncotatorUtils - GL000245.1 (len=36651,assembly=GRCh37)
13:46:20.285 INFO FuncotatorUtils - GL000197.1 (len=37175,assembly=GRCh37)
13:46:20.285 INFO FuncotatorUtils - GL000203.1 (len=37498,assembly=GRCh37)
13:46:20.285 INFO FuncotatorUtils - GL000246.1 (len=38154,assembly=GRCh37)
13:46:20.285 INFO FuncotatorUtils - GL000249.1 (len=38502,assembly=GRCh37)
13:46:20.285 INFO FuncotatorUtils - GL000196.1 (len=38914,assembly=GRCh37)
13:46:20.285 INFO FuncotatorUtils - GL000248.1 (len=39786,assembly=GRCh37)
13:46:20.285 INFO FuncotatorUtils - GL000244.1 (len=39929,assembly=GRCh37)
13:46:20.285 INFO FuncotatorUtils - GL000238.1 (len=39939,assembly=GRCh37)
13:46:20.285 INFO FuncotatorUtils - GL000202.1 (len=40103,assembly=GRCh37)
13:46:20.285 INFO FuncotatorUtils - GL000234.1 (len=40531,assembly=GRCh37)
13:46:20.285 INFO FuncotatorUtils - GL000232.1 (len=40652,assembly=GRCh37)
13:46:20.285 INFO FuncotatorUtils - GL000206.1 (len=41001,assembly=GRCh37)
13:46:20.285 INFO FuncotatorUtils - GL000240.1 (len=41933,assembly=GRCh37)
13:46:20.285 INFO FuncotatorUtils - GL000236.1 (len=41934,assembly=GRCh37)
13:46:20.285 INFO FuncotatorUtils - GL000241.1 (len=42152,assembly=GRCh37)
13:46:20.285 INFO FuncotatorUtils - GL000243.1 (len=43341,assembly=GRCh37)
13:46:20.285 INFO FuncotatorUtils - GL000242.1 (len=43523,assembly=GRCh37)
13:46:20.285 INFO FuncotatorUtils - GL000230.1 (len=43691,assembly=GRCh37)
13:46:20.285 INFO FuncotatorUtils - GL000237.1 (len=45867,assembly=GRCh37)
13:46:20.286 INFO FuncotatorUtils - GL000233.1 (len=45941,assembly=GRCh37)
13:46:20.286 INFO FuncotatorUtils - GL000204.1 (len=81310,assembly=GRCh37)
13:46:20.286 INFO FuncotatorUtils - GL000198.1 (len=90085,assembly=GRCh37)
13:46:20.286 INFO FuncotatorUtils - GL000208.1 (len=92689,assembly=GRCh37)
13:46:20.286 INFO FuncotatorUtils - GL000191.1 (len=106433,assembly=GRCh37)
13:46:20.286 INFO FuncotatorUtils - GL000227.1 (len=128374,assembly=GRCh37)
13:46:20.286 INFO FuncotatorUtils - GL000228.1 (len=129120,assembly=GRCh37)
13:46:20.286 INFO FuncotatorUtils - GL000214.1 (len=137718,assembly=GRCh37)
13:46:20.286 INFO FuncotatorUtils - GL000221.1 (len=155397,assembly=GRCh37)
13:46:20.286 INFO FuncotatorUtils - GL000209.1 (len=159169,assembly=GRCh37)
13:46:20.286 INFO FuncotatorUtils - GL000218.1 (len=161147,assembly=GRCh37)
13:46:20.286 INFO FuncotatorUtils - GL000220.1 (len=161802,assembly=GRCh37)
13:46:20.286 INFO FuncotatorUtils - GL000213.1 (len=164239,assembly=GRCh37)
13:46:20.286 INFO FuncotatorUtils - GL000211.1 (len=166566,assembly=GRCh37)
13:46:20.286 INFO FuncotatorUtils - GL000199.1 (len=169874,assembly=GRCh37)
13:46:20.287 INFO FuncotatorUtils - GL000217.1 (len=172149,assembly=GRCh37)
13:46:20.287 INFO FuncotatorUtils - GL000216.1 (len=172294,assembly=GRCh37)
13:46:20.287 INFO FuncotatorUtils - GL000215.1 (len=172545,assembly=GRCh37)
13:46:20.287 INFO FuncotatorUtils - GL000205.1 (len=174588,assembly=GRCh37)
13:46:20.287 INFO FuncotatorUtils - GL000219.1 (len=179198,assembly=GRCh37)
13:46:20.287 INFO FuncotatorUtils - GL000224.1 (len=179693,assembly=GRCh37)
13:46:20.287 INFO FuncotatorUtils - GL000223.1 (len=180455,assembly=GRCh37)
13:46:20.287 INFO FuncotatorUtils - GL000195.1 (len=182896,assembly=GRCh37)
13:46:20.287 INFO FuncotatorUtils - GL000212.1 (len=186858,assembly=GRCh37)
13:46:20.287 INFO FuncotatorUtils - GL000222.1 (len=186861,assembly=GRCh37)
13:46:20.287 INFO FuncotatorUtils - GL000200.1 (len=187035,assembly=GRCh37)
13:46:20.287 INFO FuncotatorUtils - GL000193.1 (len=189789,assembly=GRCh37)
13:46:20.287 INFO FuncotatorUtils - GL000194.1 (len=191469,assembly=GRCh37)
13:46:20.287 INFO FuncotatorUtils - GL000225.1 (len=211173,assembly=GRCh37)
13:46:20.287 INFO FuncotatorUtils - GL000192.1 (len=547496,assembly=GRCh37)
13:46:20.287 INFO FuncotatorUtils - NC_007605 (len=171823,assembly=NC_007605.1)
13:46:20.288 INFO FuncotatorEngine - Using given VCF and Reference. No conversion required.
13:46:20.288 INFO Funcotator - Creating a VCF file for output: file:/home/osman/Desktop/GATK_pipeline/results/11207400009_variants_snps.funcotated.vcf
13:46:20.308 INFO ProgressMeter - Starting traversal
13:46:20.309 INFO ProgressMeter - Current Locus Elapsed Minutes Variants Processed Variants/Minute
13:46:20.323 INFO VcfFuncotationFactory - ClinVar_VCF 20230717 cache hits/total: 0/0
13:46:20.323 INFO VcfFuncotationFactory - LMMKnown 20180612 cache hits/total: 0/0
13:46:20.325 INFO Funcotator - Shutting down engine
[October 19, 2023 at 1:46:20 PM TRT] org.broadinstitute.hellbender.tools.funcotator.Funcotator done. Elapsed time: 0.05 minutes.
Runtime.totalMemory()=1677721600
java.lang.IllegalArgumentException: Unexpected value: Ensembl_canonical
at org.broadinstitute.hellbender.utils.codecs.gtf.GencodeGtfFeature$FeatureTag.getEnum(GencodeGtfFeature.java:1394)
at org.broadinstitute.hellbender.utils.codecs.gtf.GencodeGtfFeature.<init>(GencodeGtfFeature.java:197)
at org.broadinstitute.hellbender.utils.codecs.gtf.GencodeGtfTranscriptFeature.<init>(GencodeGtfTranscriptFeature.java:19)
at org.broadinstitute.hellbender.utils.codecs.gtf.GencodeGtfTranscriptFeature.create(GencodeGtfTranscriptFeature.java:23)
at org.broadinstitute.hellbender.utils.codecs.gtf.GencodeGtfFeature$FeatureType$2.create(GencodeGtfFeature.java:768)
at org.broadinstitute.hellbender.utils.codecs.gtf.GencodeGtfFeature.create(GencodeGtfFeature.java:327)
at org.broadinstitute.hellbender.utils.codecs.gtf.AbstractGtfCodec.decode(AbstractGtfCodec.java:138)
at org.broadinstitute.hellbender.utils.codecs.gtf.AbstractGtfCodec.decode(AbstractGtfCodec.java:23)
at htsjdk.tribble.TribbleIndexedFeatureReader$QueryIterator.readNextRecord(TribbleIndexedFeatureReader.java:502)
at htsjdk.tribble.TribbleIndexedFeatureReader$QueryIterator.<init>(TribbleIndexedFeatureReader.java:442)
at htsjdk.tribble.TribbleIndexedFeatureReader.query(TribbleIndexedFeatureReader.java:298)
at org.broadinstitute.hellbender.engine.FeatureDataSource.refillQueryCache(FeatureDataSource.java:622)
at org.broadinstitute.hellbender.engine.FeatureDataSource.queryAndPrefetch(FeatureDataSource.java:591)
at org.broadinstitute.hellbender.engine.FeatureManager.getFeatures(FeatureManager.java:363)
at org.broadinstitute.hellbender.engine.FeatureContext.getValues(FeatureContext.java:173)
at org.broadinstitute.hellbender.tools.funcotator.DataSourceFuncotationFactory.queryFeaturesFromFeatureContext(DataSourceFuncotationFactory.java:314)
at org.broadinstitute.hellbender.tools.funcotator.DataSourceFuncotationFactory.getFeaturesFromFeatureContext(DataSourceFuncotationFactory.java:229)
at org.broadinstitute.hellbender.tools.funcotator.DataSourceFuncotationFactory.createFuncotations(DataSourceFuncotationFactory.java:207)
at org.broadinstitute.hellbender.tools.funcotator.DataSourceFuncotationFactory.createFuncotations(DataSourceFuncotationFactory.java:182)
at org.broadinstitute.hellbender.tools.funcotator.FuncotatorEngine.lambda$createFuncotationMapForVariant$0(FuncotatorEngine.java:152)
at java.base/java.util.stream.ReferencePipeline$3$1.accept(ReferencePipeline.java:197)
at java.base/java.util.stream.ReferencePipeline$2$1.accept(ReferencePipeline.java:179)
at java.base/java.util.ArrayList$ArrayListSpliterator.forEachRemaining(ArrayList.java:1625)
at java.base/java.util.stream.AbstractPipeline.copyInto(AbstractPipeline.java:509)
at java.base/java.util.stream.AbstractPipeline.wrapAndCopyInto(AbstractPipeline.java:499)
at java.base/java.util.stream.ReduceOps$ReduceOp.evaluateSequential(ReduceOps.java:921)
at java.base/java.util.stream.AbstractPipeline.evaluate(AbstractPipeline.java:234)
at java.base/java.util.stream.ReferencePipeline.collect(ReferencePipeline.java:682)
at org.broadinstitute.hellbender.tools.funcotator.FuncotatorEngine.createFuncotationMapForVariant(FuncotatorEngine.java:162)
at org.broadinstitute.hellbender.tools.funcotator.Funcotator.enqueueAndHandleVariant(Funcotator.java:924)
at org.broadinstitute.hellbender.tools.funcotator.Funcotator.apply(Funcotator.java:878)
at org.broadinstitute.hellbender.engine.VariantWalker.lambda$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:197)
at java.base/java.util.stream.ReferencePipeline$2$1.accept(ReferencePipeline.java:179)
at java.base/java.util.stream.ReferencePipeline$3$1.accept(ReferencePipeline.java:197)
at java.base/java.util.Iterator.forEachRemaining(Iterator.java:133)
at java.base/java.util.Spliterators$IteratorSpliterator.forEachRemaining(Spliterators.java:1845)
at java.base/java.util.stream.AbstractPipeline.copyInto(AbstractPipeline.java:509)
at java.base/java.util.stream.AbstractPipeline.wrapAndCopyInto(AbstractPipeline.java:499)
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:596)
at org.broadinstitute.hellbender.engine.VariantWalker.traverse(VariantWalker.java:102)
at org.broadinstitute.hellbender.engine.GATKTool.doWork(GATKTool.java:1098)
at org.broadinstitute.hellbender.cmdline.CommandLineProgram.runTool(CommandLineProgram.java:149)
at org.broadinstitute.hellbender.cmdline.CommandLineProgram.instanceMainPostParseArgs(CommandLineProgram.java:198)
at org.broadinstitute.hellbender.cmdline.CommandLineProgram.instanceMain(CommandLineProgram.java:217)
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)
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Hi osman doluca
Funcotator resource 1.8 is not compatible with GATK 4.4.0.0. We recommend sticking to version 1.7 or using GATK master branch builds or docker nightly builds if you wish to use 1.8 resources.
Regards.
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