diff --git a/tests/hg19-chr22/Case_1_index.delly2.extra.vcf b/tests/hg19-chr22/Case_1_index.delly2.extra.vcf index 636f556..789a7ee 100644 --- a/tests/hg19-chr22/Case_1_index.delly2.extra.vcf +++ b/tests/hg19-chr22/Case_1_index.delly2.extra.vcf @@ -1,3 +1,3 @@ version https://git-lfs.github.com/spec/v1 -oid sha256:fb043ca18572fdec932376841ea7d9e74c7d14ceb5c268646508756e9b1e8b96 -size 598 +oid sha256:a1af68128fa9e30afbb5d85c8681dd058e76e6b7c69dcd4164416139d3e995a0 +size 597 diff --git a/tests/hg19-chr22/Case_1_index.delly2.gts.tsv-expected b/tests/hg19-chr22/Case_1_index.delly2.gts.tsv-expected index 3774d2b..535dd9a 100644 --- a/tests/hg19-chr22/Case_1_index.delly2.gts.tsv-expected +++ b/tests/hg19-chr22/Case_1_index.delly2.gts.tsv-expected @@ -1,2 +1,2 @@ release chromosome chromosome_no bin chromosome2 chromosome_no2 bin2 pe_orientation start end start_ci_left start_ci_right end_ci_left end_ci_right case_id set_id sv_uuid callers sv_type sv_sub_type info num_hom_alt num_hom_ref num_het num_hemi_alt num_hemi_ref genotype -GRCh37 22 22 89 22 22 89 3to5 17400000 17700000 -29 29 -29 29 . . UUID {"EMBL.DELLYv1.1.3"} DEL DEL {"""affectedCarriers""":0,"""backgroundCarriers""":0,"""unaffectedCarriers""":0} 0 2 1 0 0 {"""Case_1_father-N1-DNA1-WGS1""":{"""cn""":2,"""ft""":["""LowQual"""],"""gq""":14,"""gt""":"""0/1""","""pec""":0,"""pev""":0,"""src""":34,"""srv""":4},"""Case_1_index-N1-DNA1-WGS1""":{"""cn""":2,"""gq""":35,"""gt""":"""0/0""","""pec""":0,"""pev""":0,"""src""":29,"""srv""":2},"""Case_1_mother-N1-DNA1-WGS1""":{"""cn""":2,"""gq""":67,"""gt""":"""0/0""","""pec""":0,"""pev""":0,"""src""":32,"""srv""":1}} +GRCh37 22 22 89 22 22 89 3to5 17400000 17700000 -29 29 -29 29 . . UUID {"DELLY2_SVv1.1.3"} DEL DEL {"""affectedCarriers""":0,"""backgroundCarriers""":0,"""unaffectedCarriers""":0} 0 2 1 0 0 {"""Case_1_father-N1-DNA1-WGS1""":{"""cn""":2,"""ft""":["""LowQual"""],"""gq""":14,"""gt""":"""0/1""","""pec""":0,"""pev""":0,"""src""":34,"""srv""":4},"""Case_1_index-N1-DNA1-WGS1""":{"""cn""":2,"""gq""":35,"""gt""":"""0/0""","""pec""":0,"""pev""":0,"""src""":29,"""srv""":2},"""Case_1_mother-N1-DNA1-WGS1""":{"""cn""":2,"""gq""":67,"""gt""":"""0/0""","""pec""":0,"""pev""":0,"""src""":32,"""srv""":1}} diff --git a/varfish-annotator-cli/src/main/java/com/github/bihealth/varfish_annotator/annotate_svs/AnnotateSvsVcf.java b/varfish-annotator-cli/src/main/java/com/github/bihealth/varfish_annotator/annotate_svs/AnnotateSvsVcf.java index 1b2fe5e..0ef2fd3 100644 --- a/varfish-annotator-cli/src/main/java/com/github/bihealth/varfish_annotator/annotate_svs/AnnotateSvsVcf.java +++ b/varfish-annotator-cli/src/main/java/com/github/bihealth/varfish_annotator/annotate_svs/AnnotateSvsVcf.java @@ -628,18 +628,18 @@ private void annotateSvVcf( // Get list of filter values to skip. final ImmutableSet skipFilters = ImmutableSet.copyOf(args.getSkipFilters().split(",")); - final String defaultSvMethod; + final String svMethod; if (callerSupport.getSvCaller() == SvCaller.GENERIC && !args.getDefaultSvMethod().equals(".")) { - defaultSvMethod = args.getDefaultSvMethod(); + svMethod = args.getDefaultSvMethod(); } else { - defaultSvMethod = callerSupport.getSvMethod(reader); + svMethod = callerSupport.getSvMethod(reader); } // Helpers for building record for `.gts.tsv` and `.feature-effects.tsv` records. final GtRecordBuilder gtRecordBuilder = new GtRecordBuilder( args.getRelease(), - defaultSvMethod, + svMethod, args.getOptOutFeatures(), args.getCaseId(), args.getSetId(), diff --git a/varfish-annotator-cli/src/test/java/com/github/bihealth/varfish_annotator/annotate_svs/AnnotateDellyVcf37Chr1Test.java b/varfish-annotator-cli/src/test/java/com/github/bihealth/varfish_annotator/annotate_svs/AnnotateDellyVcf37Chr1Test.java index e51aace..0b91e60 100644 --- a/varfish-annotator-cli/src/test/java/com/github/bihealth/varfish_annotator/annotate_svs/AnnotateDellyVcf37Chr1Test.java +++ b/varfish-annotator-cli/src/test/java/com/github/bihealth/varfish_annotator/annotate_svs/AnnotateDellyVcf37Chr1Test.java @@ -158,11 +158,11 @@ void testWithSingleton(boolean gzipOutput) throws IOException { + "GRCh37\tthousand_genomes\tv5b.20130502\n"; final String expectedGts = "release\tchromosome\tchromosome_no\tbin\tchromosome2\tchromosome_no2\tbin2\tpe_orientation\tstart\tend\tstart_ci_left\tstart_ci_right\tend_ci_left\tend_ci_right\tcase_id\tset_id\tsv_uuid\tcallers\tsv_type\tsv_sub_type\tinfo\tnum_hom_alt\tnum_hom_ref\tnum_het\tnum_hemi_alt\tnum_hemi_ref\tgenotype\n" - + "GRCh37\t1\t1\t599\t1\t1\t599\t3to5\t1866283\t1867170\t-56\t56\t-56\t56\t.\t.\t00000000-0000-0000-0000-000000000000\t{\"EMBL.DELLYv0.8.5\"}\tDEL\tDEL\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"unaffectedCarriers\"\"\":0}\t0\t0\t1\t0\t0\t{\"\"\"HG00102\"\"\":{\"\"\"amq\"\"\":40,\"\"\"anc\"\"\":1.0,\"\"\"ft\"\"\":[\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":22,\"\"\"pev\"\"\":6,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0}}\n" - + "GRCh37\t1\t1\t604\t1\t1\t604\t5to3\t2583294\t2583895\t-624\t624\t-624\t624\t.\t.\t00000000-0000-0000-0000-000000000001\t{\"EMBL.DELLYv0.8.5\"}\tDUP\tDUP\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"unaffectedCarriers\"\"\":0}\t0\t0\t1\t0\t0\t{\"\"\"HG00102\"\"\":{\"\"\"amq\"\"\":40,\"\"\"anc\"\"\":1.0,\"\"\"ft\"\"\":[\"\"\"MIN_PE_COUNT\"\"\",\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":80,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":13,\"\"\"pev\"\"\":3,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0}}\n" - + "GRCh37\t1\t1\t654\t14\t14\t654\t3to3\t9121445\t9121445\t-3\t3\t-3\t3\t.\t.\t00000000-0000-0000-0000-000000000004\t{\"EMBL.DELLYv0.8.5\"}\tBND\tBND\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"chr2\"\"\":\"\"\"14\"\"\",\"\"\"pos2\"\"\":93713177,\"\"\"unaffectedCarriers\"\"\":0}\t0\t1\t0\t0\t0\t{\"\"\"HG00102\"\"\":{\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":50,\"\"\"pev\"\"\":17,\"\"\"src\"\"\":54,\"\"\"srv\"\"\":21}}\n" - + "GRCh37\t1\t1\t780\t1\t1\t780\t3to3\t25613682\t25614267\t-6\t6\t-6\t6\t.\t.\t00000000-0000-0000-0000-000000000002\t{\"EMBL.DELLYv0.8.5\"}\tINV\tINV\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"unaffectedCarriers\"\"\":0}\t0\t0\t1\t0\t0\t{\"\"\"HG00102\"\"\":{\"\"\"ft\"\"\":[\"\"\"MIN_PE_AAF\"\"\",\"\"\"MIN_PE_COUNT\"\"\",\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":123,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":0,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":46,\"\"\"srv\"\"\":7}}\n" - + "GRCh37\t14\t14\t1299\t1\t1\t1299\t3to3\t93713177\t93713177\t-3\t3\t-3\t3\t.\t.\t00000000-0000-0000-0000-000000000003\t{\"EMBL.DELLYv0.8.5\"}\tBND\tBND\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"chr2\"\"\":\"\"\"1\"\"\",\"\"\"pos2\"\"\":9121445,\"\"\"unaffectedCarriers\"\"\":0}\t0\t0\t1\t0\t0\t{\"\"\"HG00102\"\"\":{\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":50,\"\"\"pev\"\"\":17,\"\"\"src\"\"\":54,\"\"\"srv\"\"\":21}}\n"; + + "GRCh37\t1\t1\t599\t1\t1\t599\t3to5\t1866283\t1867170\t-56\t56\t-56\t56\t.\t.\t00000000-0000-0000-0000-000000000000\t{\"DELLY2_SVv0.8.5\"}\tDEL\tDEL\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"unaffectedCarriers\"\"\":0}\t0\t0\t1\t0\t0\t{\"\"\"HG00102\"\"\":{\"\"\"amq\"\"\":40,\"\"\"anc\"\"\":1.0,\"\"\"ft\"\"\":[\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":22,\"\"\"pev\"\"\":6,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0}}\n" + + "GRCh37\t1\t1\t604\t1\t1\t604\t5to3\t2583294\t2583895\t-624\t624\t-624\t624\t.\t.\t00000000-0000-0000-0000-000000000001\t{\"DELLY2_SVv0.8.5\"}\tDUP\tDUP\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"unaffectedCarriers\"\"\":0}\t0\t0\t1\t0\t0\t{\"\"\"HG00102\"\"\":{\"\"\"amq\"\"\":40,\"\"\"anc\"\"\":1.0,\"\"\"ft\"\"\":[\"\"\"MIN_PE_COUNT\"\"\",\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":80,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":13,\"\"\"pev\"\"\":3,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0}}\n" + + "GRCh37\t1\t1\t654\t14\t14\t654\t3to3\t9121445\t9121445\t-3\t3\t-3\t3\t.\t.\t00000000-0000-0000-0000-000000000004\t{\"DELLY2_SVv0.8.5\"}\tBND\tBND\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"chr2\"\"\":\"\"\"14\"\"\",\"\"\"pos2\"\"\":93713177,\"\"\"unaffectedCarriers\"\"\":0}\t0\t1\t0\t0\t0\t{\"\"\"HG00102\"\"\":{\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":50,\"\"\"pev\"\"\":17,\"\"\"src\"\"\":54,\"\"\"srv\"\"\":21}}\n" + + "GRCh37\t1\t1\t780\t1\t1\t780\t3to3\t25613682\t25614267\t-6\t6\t-6\t6\t.\t.\t00000000-0000-0000-0000-000000000002\t{\"DELLY2_SVv0.8.5\"}\tINV\tINV\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"unaffectedCarriers\"\"\":0}\t0\t0\t1\t0\t0\t{\"\"\"HG00102\"\"\":{\"\"\"ft\"\"\":[\"\"\"MIN_PE_AAF\"\"\",\"\"\"MIN_PE_COUNT\"\"\",\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":123,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":0,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":46,\"\"\"srv\"\"\":7}}\n" + + "GRCh37\t14\t14\t1299\t1\t1\t1299\t3to3\t93713177\t93713177\t-3\t3\t-3\t3\t.\t.\t00000000-0000-0000-0000-000000000003\t{\"DELLY2_SVv0.8.5\"}\tBND\tBND\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"chr2\"\"\":\"\"\"1\"\"\",\"\"\"pos2\"\"\":9121445,\"\"\"unaffectedCarriers\"\"\":0}\t0\t0\t1\t0\t0\t{\"\"\"HG00102\"\"\":{\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":50,\"\"\"pev\"\"\":17,\"\"\"src\"\"\":54,\"\"\"srv\"\"\":21}}\n"; final String expectedFeatureEffects = "case_id\tset_id\tsv_uuid\trefseq_gene_id\trefseq_transcript_id\trefseq_transcript_coding\trefseq_effect\tensembl_gene_id\tensembl_transcript_id\tensembl_transcript_coding\tensembl_effect\n"; runTest( @@ -193,11 +193,11 @@ void testWithTrio(boolean gzipOutput) throws IOException { + "GRCh37\tthousand_genomes\tv5b.20130502\n"; final String expectedGts = "release\tchromosome\tchromosome_no\tbin\tchromosome2\tchromosome_no2\tbin2\tpe_orientation\tstart\tend\tstart_ci_left\tstart_ci_right\tend_ci_left\tend_ci_right\tcase_id\tset_id\tsv_uuid\tcallers\tsv_type\tsv_sub_type\tinfo\tnum_hom_alt\tnum_hom_ref\tnum_het\tnum_hemi_alt\tnum_hemi_ref\tgenotype\n" - + "GRCh37\t1\t1\t599\t1\t1\t599\t3to5\t1866283\t1867170\t-56\t56\t-56\t56\t.\t.\t00000000-0000-0000-0000-000000000000\t{\"EMBL.DELLYv0.8.5\"}\tDEL\tDEL\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"unaffectedCarriers\"\"\":0}\t0\t1\t2\t0\t0\t{\"\"\"NA12878\"\"\":{\"\"\"amq\"\"\":40,\"\"\"anc\"\"\":1.0,\"\"\"ft\"\"\":[\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":22,\"\"\"pev\"\"\":6,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0},\"\"\"NA12891\"\"\":{\"\"\"amq\"\"\":40,\"\"\"anc\"\"\":1.0,\"\"\"ft\"\"\":[\"\"\"MAX_PE_AAF\"\"\"],\"\"\"gq\"\"\":127,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":11,\"\"\"pev\"\"\":4,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0},\"\"\"NA12892\"\"\":{\"\"\"amq\"\"\":40,\"\"\"anc\"\"\":1.0,\"\"\"gq\"\"\":57,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":19,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0}}\n" - + "GRCh37\t1\t1\t604\t1\t1\t604\t5to3\t2583294\t2583895\t-624\t624\t-624\t624\t.\t.\t00000000-0000-0000-0000-000000000001\t{\"EMBL.DELLYv0.8.5\"}\tDUP\tDUP\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"unaffectedCarriers\"\"\":0}\t0\t2\t1\t0\t0\t{\"\"\"NA12878\"\"\":{\"\"\"amq\"\"\":40,\"\"\"anc\"\"\":1.0,\"\"\"ft\"\"\":[\"\"\"MIN_PE_COUNT\"\"\",\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":80,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":13,\"\"\"pev\"\"\":3,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0},\"\"\"NA12891\"\"\":{\"\"\"amq\"\"\":40,\"\"\"anc\"\"\":1.0,\"\"\"gq\"\"\":24,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":12,\"\"\"pev\"\"\":1,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0},\"\"\"NA12892\"\"\":{\"\"\"amq\"\"\":40,\"\"\"anc\"\"\":1.0,\"\"\"gq\"\"\":39,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":13,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0}}\n" - + "GRCh37\t1\t1\t654\t14\t14\t654\t3to3\t9121445\t9121445\t-3\t3\t-3\t3\t.\t.\t00000000-0000-0000-0000-000000000004\t{\"EMBL.DELLYv0.8.5\"}\tBND\tBND\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"chr2\"\"\":\"\"\"14\"\"\",\"\"\"pos2\"\"\":93713177,\"\"\"unaffectedCarriers\"\"\":0}\t0\t3\t0\t0\t0\t{\"\"\"NA12878\"\"\":{\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":50,\"\"\"pev\"\"\":17,\"\"\"src\"\"\":54,\"\"\"srv\"\"\":21},\"\"\"NA12891\"\"\":{\"\"\"gq\"\"\":93,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":31,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":31,\"\"\"srv\"\"\":0},\"\"\"NA12892\"\"\":{\"\"\"ft\"\"\":[\"\"\"MAX_PE_AAF\"\"\",\"\"\"MAX_PE_COUNT\"\"\",\"\"\"MAX_SR_AAF\"\"\",\"\"\"MAX_SR_COUNT\"\"\"],\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":39,\"\"\"pev\"\"\":15,\"\"\"src\"\"\":37,\"\"\"srv\"\"\":18}}\n" - + "GRCh37\t1\t1\t780\t1\t1\t780\t3to3\t25613682\t25614267\t-6\t6\t-6\t6\t.\t.\t00000000-0000-0000-0000-000000000002\t{\"EMBL.DELLYv0.8.5\"}\tINV\tINV\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"unaffectedCarriers\"\"\":0}\t0\t0\t3\t0\t0\t{\"\"\"NA12878\"\"\":{\"\"\"ft\"\"\":[\"\"\"MIN_PE_AAF\"\"\",\"\"\"MIN_PE_COUNT\"\"\",\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":123,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":0,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":46,\"\"\"srv\"\"\":7},\"\"\"NA12891\"\"\":{\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":0,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":43,\"\"\"srv\"\"\":8},\"\"\"NA12892\"\"\":{\"\"\"gq\"\"\":157,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":0,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":56,\"\"\"srv\"\"\":8}}\n" - + "GRCh37\t14\t14\t1299\t1\t1\t1299\t3to3\t93713177\t93713177\t-3\t3\t-3\t3\t.\t.\t00000000-0000-0000-0000-000000000003\t{\"EMBL.DELLYv0.8.5\"}\tBND\tBND\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"chr2\"\"\":\"\"\"1\"\"\",\"\"\"pos2\"\"\":9121445,\"\"\"unaffectedCarriers\"\"\":0}\t0\t1\t2\t0\t0\t{\"\"\"NA12878\"\"\":{\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":50,\"\"\"pev\"\"\":17,\"\"\"src\"\"\":54,\"\"\"srv\"\"\":21},\"\"\"NA12891\"\"\":{\"\"\"gq\"\"\":93,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":31,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":31,\"\"\"srv\"\"\":0},\"\"\"NA12892\"\"\":{\"\"\"ft\"\"\":[\"\"\"MAX_PE_AAF\"\"\",\"\"\"MAX_PE_COUNT\"\"\",\"\"\"MAX_SR_AAF\"\"\",\"\"\"MAX_SR_COUNT\"\"\"],\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":39,\"\"\"pev\"\"\":15,\"\"\"src\"\"\":37,\"\"\"srv\"\"\":18}}\n"; + + "GRCh37\t1\t1\t599\t1\t1\t599\t3to5\t1866283\t1867170\t-56\t56\t-56\t56\t.\t.\t00000000-0000-0000-0000-000000000000\t{\"DELLY2_SVv0.8.5\"}\tDEL\tDEL\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"unaffectedCarriers\"\"\":0}\t0\t1\t2\t0\t0\t{\"\"\"NA12878\"\"\":{\"\"\"amq\"\"\":40,\"\"\"anc\"\"\":1.0,\"\"\"ft\"\"\":[\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":22,\"\"\"pev\"\"\":6,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0},\"\"\"NA12891\"\"\":{\"\"\"amq\"\"\":40,\"\"\"anc\"\"\":1.0,\"\"\"ft\"\"\":[\"\"\"MAX_PE_AAF\"\"\"],\"\"\"gq\"\"\":127,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":11,\"\"\"pev\"\"\":4,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0},\"\"\"NA12892\"\"\":{\"\"\"amq\"\"\":40,\"\"\"anc\"\"\":1.0,\"\"\"gq\"\"\":57,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":19,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0}}\n" + + "GRCh37\t1\t1\t604\t1\t1\t604\t5to3\t2583294\t2583895\t-624\t624\t-624\t624\t.\t.\t00000000-0000-0000-0000-000000000001\t{\"DELLY2_SVv0.8.5\"}\tDUP\tDUP\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"unaffectedCarriers\"\"\":0}\t0\t2\t1\t0\t0\t{\"\"\"NA12878\"\"\":{\"\"\"amq\"\"\":40,\"\"\"anc\"\"\":1.0,\"\"\"ft\"\"\":[\"\"\"MIN_PE_COUNT\"\"\",\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":80,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":13,\"\"\"pev\"\"\":3,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0},\"\"\"NA12891\"\"\":{\"\"\"amq\"\"\":40,\"\"\"anc\"\"\":1.0,\"\"\"gq\"\"\":24,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":12,\"\"\"pev\"\"\":1,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0},\"\"\"NA12892\"\"\":{\"\"\"amq\"\"\":40,\"\"\"anc\"\"\":1.0,\"\"\"gq\"\"\":39,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":13,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0}}\n" + + "GRCh37\t1\t1\t654\t14\t14\t654\t3to3\t9121445\t9121445\t-3\t3\t-3\t3\t.\t.\t00000000-0000-0000-0000-000000000004\t{\"DELLY2_SVv0.8.5\"}\tBND\tBND\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"chr2\"\"\":\"\"\"14\"\"\",\"\"\"pos2\"\"\":93713177,\"\"\"unaffectedCarriers\"\"\":0}\t0\t3\t0\t0\t0\t{\"\"\"NA12878\"\"\":{\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":50,\"\"\"pev\"\"\":17,\"\"\"src\"\"\":54,\"\"\"srv\"\"\":21},\"\"\"NA12891\"\"\":{\"\"\"gq\"\"\":93,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":31,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":31,\"\"\"srv\"\"\":0},\"\"\"NA12892\"\"\":{\"\"\"ft\"\"\":[\"\"\"MAX_PE_AAF\"\"\",\"\"\"MAX_PE_COUNT\"\"\",\"\"\"MAX_SR_AAF\"\"\",\"\"\"MAX_SR_COUNT\"\"\"],\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":39,\"\"\"pev\"\"\":15,\"\"\"src\"\"\":37,\"\"\"srv\"\"\":18}}\n" + + "GRCh37\t1\t1\t780\t1\t1\t780\t3to3\t25613682\t25614267\t-6\t6\t-6\t6\t.\t.\t00000000-0000-0000-0000-000000000002\t{\"DELLY2_SVv0.8.5\"}\tINV\tINV\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"unaffectedCarriers\"\"\":0}\t0\t0\t3\t0\t0\t{\"\"\"NA12878\"\"\":{\"\"\"ft\"\"\":[\"\"\"MIN_PE_AAF\"\"\",\"\"\"MIN_PE_COUNT\"\"\",\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":123,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":0,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":46,\"\"\"srv\"\"\":7},\"\"\"NA12891\"\"\":{\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":0,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":43,\"\"\"srv\"\"\":8},\"\"\"NA12892\"\"\":{\"\"\"gq\"\"\":157,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":0,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":56,\"\"\"srv\"\"\":8}}\n" + + "GRCh37\t14\t14\t1299\t1\t1\t1299\t3to3\t93713177\t93713177\t-3\t3\t-3\t3\t.\t.\t00000000-0000-0000-0000-000000000003\t{\"DELLY2_SVv0.8.5\"}\tBND\tBND\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"chr2\"\"\":\"\"\"1\"\"\",\"\"\"pos2\"\"\":9121445,\"\"\"unaffectedCarriers\"\"\":0}\t0\t1\t2\t0\t0\t{\"\"\"NA12878\"\"\":{\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":50,\"\"\"pev\"\"\":17,\"\"\"src\"\"\":54,\"\"\"srv\"\"\":21},\"\"\"NA12891\"\"\":{\"\"\"gq\"\"\":93,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":31,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":31,\"\"\"srv\"\"\":0},\"\"\"NA12892\"\"\":{\"\"\"ft\"\"\":[\"\"\"MAX_PE_AAF\"\"\",\"\"\"MAX_PE_COUNT\"\"\",\"\"\"MAX_SR_AAF\"\"\",\"\"\"MAX_SR_COUNT\"\"\"],\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":39,\"\"\"pev\"\"\":15,\"\"\"src\"\"\":37,\"\"\"srv\"\"\":18}}\n"; final String expectedFeatureEffects = "case_id\tset_id\tsv_uuid\trefseq_gene_id\trefseq_transcript_id\trefseq_transcript_coding\trefseq_effect\tensembl_gene_id\tensembl_transcript_id\tensembl_transcript_coding\tensembl_effect\n"; runTest( @@ -255,8 +255,8 @@ void testAnnotateHemiMale() throws Exception { + "GRCh37\tthousand_genomes\tv5b.20130502\n"; final String expectedGts = "release\tchromosome\tchromosome_no\tbin\tchromosome2\tchromosome_no2\tbin2\tpe_orientation\tstart\tend\tstart_ci_left\tstart_ci_right\tend_ci_left\tend_ci_right\tcase_id\tset_id\tsv_uuid\tcallers\tsv_type\tsv_sub_type\tinfo\tnum_hom_alt\tnum_hom_ref\tnum_het\tnum_hemi_alt\tnum_hemi_ref\tgenotype\n" - + "GRCh37\tX\t23\t592\tX\t23\t592\t3to5\t1000000\t1001000\t-56\t56\t-56\t56\t.\t.\t00000000-0000-0000-0000-000000000000\t{\"EMBL.DELLYv0.8.5\"}\tDEL\tDEL\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"unaffectedCarriers\"\"\":0}\t1\t0\t0\t0\t0\t{\"\"\"HG00102\"\"\":{\"\"\"amq\"\"\":40,\"\"\"anc\"\"\":1.0,\"\"\"ft\"\"\":[\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"1/1\"\"\",\"\"\"pec\"\"\":22,\"\"\"pev\"\"\":6,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0}}\n" - + "GRCh37\tX\t23\t607\tX\t23\t607\t5to3\t3000000\t3001000\t-624\t624\t-624\t624\t.\t.\t00000000-0000-0000-0000-000000000001\t{\"EMBL.DELLYv0.8.5\"}\tDUP\tDUP\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"unaffectedCarriers\"\"\":0}\t0\t0\t0\t1\t0\t{\"\"\"HG00102\"\"\":{\"\"\"amq\"\"\":40,\"\"\"anc\"\"\":1.0,\"\"\"ft\"\"\":[\"\"\"MIN_PE_COUNT\"\"\",\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":80,\"\"\"gt\"\"\":\"\"\"1/1\"\"\",\"\"\"pec\"\"\":13,\"\"\"pev\"\"\":3,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0}}\n"; + + "GRCh37\tX\t23\t592\tX\t23\t592\t3to5\t1000000\t1001000\t-56\t56\t-56\t56\t.\t.\t00000000-0000-0000-0000-000000000000\t{\"DELLY2_SVv0.8.5\"}\tDEL\tDEL\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"unaffectedCarriers\"\"\":0}\t1\t0\t0\t0\t0\t{\"\"\"HG00102\"\"\":{\"\"\"amq\"\"\":40,\"\"\"anc\"\"\":1.0,\"\"\"ft\"\"\":[\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"1/1\"\"\",\"\"\"pec\"\"\":22,\"\"\"pev\"\"\":6,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0}}\n" + + "GRCh37\tX\t23\t607\tX\t23\t607\t5to3\t3000000\t3001000\t-624\t624\t-624\t624\t.\t.\t00000000-0000-0000-0000-000000000001\t{\"DELLY2_SVv0.8.5\"}\tDUP\tDUP\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"unaffectedCarriers\"\"\":0}\t0\t0\t0\t1\t0\t{\"\"\"HG00102\"\"\":{\"\"\"amq\"\"\":40,\"\"\"anc\"\"\":1.0,\"\"\"ft\"\"\":[\"\"\"MIN_PE_COUNT\"\"\",\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":80,\"\"\"gt\"\"\":\"\"\"1/1\"\"\",\"\"\"pec\"\"\":13,\"\"\"pev\"\"\":3,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0}}\n"; final String expectedFeatureEffects = "case_id\tset_id\tsv_uuid\trefseq_gene_id\trefseq_transcript_id\trefseq_transcript_coding\trefseq_effect\tensembl_gene_id\tensembl_transcript_id\tensembl_transcript_coding\tensembl_effect\n"; runTest( @@ -286,8 +286,8 @@ void testAnnotateHemiFamily() throws Exception { + "GRCh37\tthousand_genomes\tv5b.20130502\n"; final String expectedGts = "release\tchromosome\tchromosome_no\tbin\tchromosome2\tchromosome_no2\tbin2\tpe_orientation\tstart\tend\tstart_ci_left\tstart_ci_right\tend_ci_left\tend_ci_right\tcase_id\tset_id\tsv_uuid\tcallers\tsv_type\tsv_sub_type\tinfo\tnum_hom_alt\tnum_hom_ref\tnum_het\tnum_hemi_alt\tnum_hemi_ref\tgenotype\n" - + "GRCh37\tX\t23\t592\tX\t23\t592\t3to5\t1000000\t1001000\t-56\t56\t-56\t56\t.\t.\t00000000-0000-0000-0000-000000000000\t{\"EMBL.DELLYv0.8.5\"}\tDEL\tDEL\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"unaffectedCarriers\"\"\":0}\t1\t1\t1\t0\t0\t{\"\"\"NA12878\"\"\":{\"\"\"amq\"\"\":40,\"\"\"anc\"\"\":1.0,\"\"\"ft\"\"\":[\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"1/1\"\"\",\"\"\"pec\"\"\":22,\"\"\"pev\"\"\":6,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0},\"\"\"NA12891\"\"\":{\"\"\"amq\"\"\":40,\"\"\"anc\"\"\":1.0,\"\"\"ft\"\"\":[\"\"\"MAX_PE_AAF\"\"\"],\"\"\"gq\"\"\":127,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":11,\"\"\"pev\"\"\":4,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0},\"\"\"NA12892\"\"\":{\"\"\"amq\"\"\":40,\"\"\"anc\"\"\":1.0,\"\"\"gq\"\"\":57,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":19,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0}}\n" - + "GRCh37\tX\t23\t607\tX\t23\t607\t5to3\t3000000\t3001000\t-624\t624\t-624\t624\t.\t.\t00000000-0000-0000-0000-000000000001\t{\"EMBL.DELLYv0.8.5\"}\tDUP\tDUP\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"unaffectedCarriers\"\"\":0}\t1\t0\t0\t0\t2\t{\"\"\"NA12878\"\"\":{\"\"\"amq\"\"\":40,\"\"\"anc\"\"\":1.0,\"\"\"ft\"\"\":[\"\"\"MIN_PE_COUNT\"\"\",\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":80,\"\"\"gt\"\"\":\"\"\"1/1\"\"\",\"\"\"pec\"\"\":13,\"\"\"pev\"\"\":3,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0},\"\"\"NA12891\"\"\":{\"\"\"amq\"\"\":40,\"\"\"anc\"\"\":1.0,\"\"\"gq\"\"\":24,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":12,\"\"\"pev\"\"\":1,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0},\"\"\"NA12892\"\"\":{\"\"\"amq\"\"\":40,\"\"\"anc\"\"\":1.0,\"\"\"gq\"\"\":39,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":13,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0}}\n"; + + "GRCh37\tX\t23\t592\tX\t23\t592\t3to5\t1000000\t1001000\t-56\t56\t-56\t56\t.\t.\t00000000-0000-0000-0000-000000000000\t{\"DELLY2_SVv0.8.5\"}\tDEL\tDEL\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"unaffectedCarriers\"\"\":0}\t1\t1\t1\t0\t0\t{\"\"\"NA12878\"\"\":{\"\"\"amq\"\"\":40,\"\"\"anc\"\"\":1.0,\"\"\"ft\"\"\":[\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"1/1\"\"\",\"\"\"pec\"\"\":22,\"\"\"pev\"\"\":6,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0},\"\"\"NA12891\"\"\":{\"\"\"amq\"\"\":40,\"\"\"anc\"\"\":1.0,\"\"\"ft\"\"\":[\"\"\"MAX_PE_AAF\"\"\"],\"\"\"gq\"\"\":127,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":11,\"\"\"pev\"\"\":4,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0},\"\"\"NA12892\"\"\":{\"\"\"amq\"\"\":40,\"\"\"anc\"\"\":1.0,\"\"\"gq\"\"\":57,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":19,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0}}\n" + + "GRCh37\tX\t23\t607\tX\t23\t607\t5to3\t3000000\t3001000\t-624\t624\t-624\t624\t.\t.\t00000000-0000-0000-0000-000000000001\t{\"DELLY2_SVv0.8.5\"}\tDUP\tDUP\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"unaffectedCarriers\"\"\":0}\t1\t0\t0\t0\t2\t{\"\"\"NA12878\"\"\":{\"\"\"amq\"\"\":40,\"\"\"anc\"\"\":1.0,\"\"\"ft\"\"\":[\"\"\"MIN_PE_COUNT\"\"\",\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":80,\"\"\"gt\"\"\":\"\"\"1/1\"\"\",\"\"\"pec\"\"\":13,\"\"\"pev\"\"\":3,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0},\"\"\"NA12891\"\"\":{\"\"\"amq\"\"\":40,\"\"\"anc\"\"\":1.0,\"\"\"gq\"\"\":24,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":12,\"\"\"pev\"\"\":1,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0},\"\"\"NA12892\"\"\":{\"\"\"amq\"\"\":40,\"\"\"anc\"\"\":1.0,\"\"\"gq\"\"\":39,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":13,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0}}\n"; final String expectedFeatureEffects = "case_id\tset_id\tsv_uuid\trefseq_gene_id\trefseq_transcript_id\trefseq_transcript_coding\trefseq_effect\tensembl_gene_id\tensembl_transcript_id\tensembl_transcript_coding\tensembl_effect\n"; runTest( @@ -320,11 +320,11 @@ void testWithSingletonOptOutChrom2() throws IOException { + "GRCh37\tthousand_genomes\tv5b.20130502\n"; final String expectedGts = "release\tchromosome\tchromosome_no\tbin\tstart\tend\tstart_ci_left\tstart_ci_right\tend_ci_left\tend_ci_right\tcase_id\tset_id\tsv_uuid\tcallers\tsv_type\tsv_sub_type\tinfo\tnum_hom_alt\tnum_hom_ref\tnum_het\tnum_hemi_alt\tnum_hemi_ref\tgenotype\n" - + "GRCh37\t1\t1\t599\t1866283\t1867170\t-56\t56\t-56\t56\t.\t.\t00000000-0000-0000-0000-000000000000\t{\"EMBL.DELLYv0.8.5\"}\tDEL\tDEL\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"unaffectedCarriers\"\"\":0}\t0\t0\t1\t0\t0\t{\"\"\"HG00102\"\"\":{\"\"\"amq\"\"\":40,\"\"\"anc\"\"\":1.0,\"\"\"ft\"\"\":[\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":22,\"\"\"pev\"\"\":6,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0}}\n" - + "GRCh37\t1\t1\t604\t2583294\t2583895\t-624\t624\t-624\t624\t.\t.\t00000000-0000-0000-0000-000000000001\t{\"EMBL.DELLYv0.8.5\"}\tDUP\tDUP\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"unaffectedCarriers\"\"\":0}\t0\t0\t1\t0\t0\t{\"\"\"HG00102\"\"\":{\"\"\"amq\"\"\":40,\"\"\"anc\"\"\":1.0,\"\"\"ft\"\"\":[\"\"\"MIN_PE_COUNT\"\"\",\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":80,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":13,\"\"\"pev\"\"\":3,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0}}\n" - + "GRCh37\t1\t1\t654\t9121445\t9121445\t-3\t3\t-3\t3\t.\t.\t00000000-0000-0000-0000-000000000004\t{\"EMBL.DELLYv0.8.5\"}\tBND\tBND\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"chr2\"\"\":\"\"\"14\"\"\",\"\"\"pos2\"\"\":93713177,\"\"\"unaffectedCarriers\"\"\":0}\t0\t1\t0\t0\t0\t{\"\"\"HG00102\"\"\":{\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":50,\"\"\"pev\"\"\":17,\"\"\"src\"\"\":54,\"\"\"srv\"\"\":21}}\n" - + "GRCh37\t1\t1\t780\t25613682\t25614267\t-6\t6\t-6\t6\t.\t.\t00000000-0000-0000-0000-000000000002\t{\"EMBL.DELLYv0.8.5\"}\tINV\tINV\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"unaffectedCarriers\"\"\":0}\t0\t0\t1\t0\t0\t{\"\"\"HG00102\"\"\":{\"\"\"ft\"\"\":[\"\"\"MIN_PE_AAF\"\"\",\"\"\"MIN_PE_COUNT\"\"\",\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":123,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":0,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":46,\"\"\"srv\"\"\":7}}\n" - + "GRCh37\t14\t14\t1299\t93713177\t93713177\t-3\t3\t-3\t3\t.\t.\t00000000-0000-0000-0000-000000000003\t{\"EMBL.DELLYv0.8.5\"}\tBND\tBND\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"chr2\"\"\":\"\"\"1\"\"\",\"\"\"pos2\"\"\":9121445,\"\"\"unaffectedCarriers\"\"\":0}\t0\t0\t1\t0\t0\t{\"\"\"HG00102\"\"\":{\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":50,\"\"\"pev\"\"\":17,\"\"\"src\"\"\":54,\"\"\"srv\"\"\":21}}\n"; + + "GRCh37\t1\t1\t599\t1866283\t1867170\t-56\t56\t-56\t56\t.\t.\t00000000-0000-0000-0000-000000000000\t{\"DELLY2_SVv0.8.5\"}\tDEL\tDEL\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"unaffectedCarriers\"\"\":0}\t0\t0\t1\t0\t0\t{\"\"\"HG00102\"\"\":{\"\"\"amq\"\"\":40,\"\"\"anc\"\"\":1.0,\"\"\"ft\"\"\":[\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":22,\"\"\"pev\"\"\":6,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0}}\n" + + "GRCh37\t1\t1\t604\t2583294\t2583895\t-624\t624\t-624\t624\t.\t.\t00000000-0000-0000-0000-000000000001\t{\"DELLY2_SVv0.8.5\"}\tDUP\tDUP\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"unaffectedCarriers\"\"\":0}\t0\t0\t1\t0\t0\t{\"\"\"HG00102\"\"\":{\"\"\"amq\"\"\":40,\"\"\"anc\"\"\":1.0,\"\"\"ft\"\"\":[\"\"\"MIN_PE_COUNT\"\"\",\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":80,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":13,\"\"\"pev\"\"\":3,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0}}\n" + + "GRCh37\t1\t1\t654\t9121445\t9121445\t-3\t3\t-3\t3\t.\t.\t00000000-0000-0000-0000-000000000004\t{\"DELLY2_SVv0.8.5\"}\tBND\tBND\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"chr2\"\"\":\"\"\"14\"\"\",\"\"\"pos2\"\"\":93713177,\"\"\"unaffectedCarriers\"\"\":0}\t0\t1\t0\t0\t0\t{\"\"\"HG00102\"\"\":{\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":50,\"\"\"pev\"\"\":17,\"\"\"src\"\"\":54,\"\"\"srv\"\"\":21}}\n" + + "GRCh37\t1\t1\t780\t25613682\t25614267\t-6\t6\t-6\t6\t.\t.\t00000000-0000-0000-0000-000000000002\t{\"DELLY2_SVv0.8.5\"}\tINV\tINV\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"unaffectedCarriers\"\"\":0}\t0\t0\t1\t0\t0\t{\"\"\"HG00102\"\"\":{\"\"\"ft\"\"\":[\"\"\"MIN_PE_AAF\"\"\",\"\"\"MIN_PE_COUNT\"\"\",\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":123,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":0,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":46,\"\"\"srv\"\"\":7}}\n" + + "GRCh37\t14\t14\t1299\t93713177\t93713177\t-3\t3\t-3\t3\t.\t.\t00000000-0000-0000-0000-000000000003\t{\"DELLY2_SVv0.8.5\"}\tBND\tBND\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"chr2\"\"\":\"\"\"1\"\"\",\"\"\"pos2\"\"\":9121445,\"\"\"unaffectedCarriers\"\"\":0}\t0\t0\t1\t0\t0\t{\"\"\"HG00102\"\"\":{\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":50,\"\"\"pev\"\"\":17,\"\"\"src\"\"\":54,\"\"\"srv\"\"\":21}}\n"; final String expectedFeatureEffects = "case_id\tset_id\tsv_uuid\trefseq_gene_id\trefseq_transcript_id\trefseq_transcript_coding\trefseq_effect\tensembl_gene_id\tensembl_transcript_id\tensembl_transcript_coding\tensembl_effect\n"; runTest( @@ -354,11 +354,11 @@ void testWithSingletonOptOutDbCounts() throws IOException { + "GRCh37\tthousand_genomes\tv5b.20130502\n"; final String expectedGts = "release\tchromosome\tchromosome_no\tbin\tchromosome2\tchromosome_no2\tbin2\tpe_orientation\tstart\tend\tstart_ci_left\tstart_ci_right\tend_ci_left\tend_ci_right\tcase_id\tset_id\tsv_uuid\tcallers\tsv_type\tsv_sub_type\tinfo\tgenotype\n" - + "GRCh37\t1\t1\t599\t1\t1\t599\t3to5\t1866283\t1867170\t-56\t56\t-56\t56\t.\t.\t00000000-0000-0000-0000-000000000000\t{\"EMBL.DELLYv0.8.5\"}\tDEL\tDEL\t{}\t{\"\"\"HG00102\"\"\":{\"\"\"amq\"\"\":40,\"\"\"anc\"\"\":1.0,\"\"\"ft\"\"\":[\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":22,\"\"\"pev\"\"\":6,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0}}\n" - + "GRCh37\t1\t1\t604\t1\t1\t604\t5to3\t2583294\t2583895\t-624\t624\t-624\t624\t.\t.\t00000000-0000-0000-0000-000000000001\t{\"EMBL.DELLYv0.8.5\"}\tDUP\tDUP\t{}\t{\"\"\"HG00102\"\"\":{\"\"\"amq\"\"\":40,\"\"\"anc\"\"\":1.0,\"\"\"ft\"\"\":[\"\"\"MIN_PE_COUNT\"\"\",\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":80,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":13,\"\"\"pev\"\"\":3,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0}}\n" - + "GRCh37\t1\t1\t654\t14\t14\t654\t3to3\t9121445\t9121445\t-3\t3\t-3\t3\t.\t.\t00000000-0000-0000-0000-000000000004\t{\"EMBL.DELLYv0.8.5\"}\tBND\tBND\t{}\t{\"\"\"HG00102\"\"\":{\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":50,\"\"\"pev\"\"\":17,\"\"\"src\"\"\":54,\"\"\"srv\"\"\":21}}\n" - + "GRCh37\t1\t1\t780\t1\t1\t780\t3to3\t25613682\t25614267\t-6\t6\t-6\t6\t.\t.\t00000000-0000-0000-0000-000000000002\t{\"EMBL.DELLYv0.8.5\"}\tINV\tINV\t{}\t{\"\"\"HG00102\"\"\":{\"\"\"ft\"\"\":[\"\"\"MIN_PE_AAF\"\"\",\"\"\"MIN_PE_COUNT\"\"\",\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":123,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":0,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":46,\"\"\"srv\"\"\":7}}\n" - + "GRCh37\t14\t14\t1299\t1\t1\t1299\t3to3\t93713177\t93713177\t-3\t3\t-3\t3\t.\t.\t00000000-0000-0000-0000-000000000003\t{\"EMBL.DELLYv0.8.5\"}\tBND\tBND\t{}\t{\"\"\"HG00102\"\"\":{\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":50,\"\"\"pev\"\"\":17,\"\"\"src\"\"\":54,\"\"\"srv\"\"\":21}}\n"; + + "GRCh37\t1\t1\t599\t1\t1\t599\t3to5\t1866283\t1867170\t-56\t56\t-56\t56\t.\t.\t00000000-0000-0000-0000-000000000000\t{\"DELLY2_SVv0.8.5\"}\tDEL\tDEL\t{}\t{\"\"\"HG00102\"\"\":{\"\"\"amq\"\"\":40,\"\"\"anc\"\"\":1.0,\"\"\"ft\"\"\":[\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":22,\"\"\"pev\"\"\":6,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0}}\n" + + "GRCh37\t1\t1\t604\t1\t1\t604\t5to3\t2583294\t2583895\t-624\t624\t-624\t624\t.\t.\t00000000-0000-0000-0000-000000000001\t{\"DELLY2_SVv0.8.5\"}\tDUP\tDUP\t{}\t{\"\"\"HG00102\"\"\":{\"\"\"amq\"\"\":40,\"\"\"anc\"\"\":1.0,\"\"\"ft\"\"\":[\"\"\"MIN_PE_COUNT\"\"\",\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":80,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":13,\"\"\"pev\"\"\":3,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0}}\n" + + "GRCh37\t1\t1\t654\t14\t14\t654\t3to3\t9121445\t9121445\t-3\t3\t-3\t3\t.\t.\t00000000-0000-0000-0000-000000000004\t{\"DELLY2_SVv0.8.5\"}\tBND\tBND\t{}\t{\"\"\"HG00102\"\"\":{\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":50,\"\"\"pev\"\"\":17,\"\"\"src\"\"\":54,\"\"\"srv\"\"\":21}}\n" + + "GRCh37\t1\t1\t780\t1\t1\t780\t3to3\t25613682\t25614267\t-6\t6\t-6\t6\t.\t.\t00000000-0000-0000-0000-000000000002\t{\"DELLY2_SVv0.8.5\"}\tINV\tINV\t{}\t{\"\"\"HG00102\"\"\":{\"\"\"ft\"\"\":[\"\"\"MIN_PE_AAF\"\"\",\"\"\"MIN_PE_COUNT\"\"\",\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":123,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":0,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":46,\"\"\"srv\"\"\":7}}\n" + + "GRCh37\t14\t14\t1299\t1\t1\t1299\t3to3\t93713177\t93713177\t-3\t3\t-3\t3\t.\t.\t00000000-0000-0000-0000-000000000003\t{\"DELLY2_SVv0.8.5\"}\tBND\tBND\t{}\t{\"\"\"HG00102\"\"\":{\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":50,\"\"\"pev\"\"\":17,\"\"\"src\"\"\":54,\"\"\"srv\"\"\":21}}\n"; final String expectedFeatureEffects = "case_id\tset_id\tsv_uuid\trefseq_gene_id\trefseq_transcript_id\trefseq_transcript_coding\trefseq_effect\tensembl_gene_id\tensembl_transcript_id\tensembl_transcript_coding\tensembl_effect\n"; runTest( @@ -388,8 +388,8 @@ void testWithSingletonBnd() throws IOException { + "GRCh37\tthousand_genomes\tv5b.20130502\n"; final String expectedGts = "release\tchromosome\tchromosome_no\tbin\tchromosome2\tchromosome_no2\tbin2\tpe_orientation\tstart\tend\tstart_ci_left\tstart_ci_right\tend_ci_left\tend_ci_right\tcase_id\tset_id\tsv_uuid\tcallers\tsv_type\tsv_sub_type\tinfo\tnum_hom_alt\tnum_hom_ref\tnum_het\tnum_hemi_alt\tnum_hemi_ref\tgenotype\n" - + "GRCh37\t1\t1\t2486\t2\t2\t2486\t5to3\t249239891\t249239891\t-248\t248\t-248\t248\t.\t.\t00000000-0000-0000-0000-000000000001\t{\"EMBL.DELLYv0.8.1\"}\tBND\tBND\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"chr2\"\"\":\"\"\"2\"\"\",\"\"\"pos2\"\"\":10265,\"\"\"unaffectedCarriers\"\"\":0}\t0\t1\t0\t0\t0\t{\"\"\"HG00102\"\"\":{\"\"\"gq\"\"\":23,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":10,\"\"\"pev\"\"\":3,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0}}\n" - + "GRCh37\t2\t2\t585\t1\t1\t585\t3to5\t10265\t10265\t-248\t248\t-248\t248\t.\t.\t00000000-0000-0000-0000-000000000000\t{\"EMBL.DELLYv0.8.1\"}\tBND\tBND\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"chr2\"\"\":\"\"\"1\"\"\",\"\"\"pos2\"\"\":249239891,\"\"\"unaffectedCarriers\"\"\":0}\t0\t0\t1\t0\t0\t{\"\"\"HG00102\"\"\":{\"\"\"gq\"\"\":23,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":10,\"\"\"pev\"\"\":3,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0}}\n"; + + "GRCh37\t1\t1\t2486\t2\t2\t2486\t5to3\t249239891\t249239891\t-248\t248\t-248\t248\t.\t.\t00000000-0000-0000-0000-000000000001\t{\"DELLY2_SVv0.8.1\"}\tBND\tBND\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"chr2\"\"\":\"\"\"2\"\"\",\"\"\"pos2\"\"\":10265,\"\"\"unaffectedCarriers\"\"\":0}\t0\t1\t0\t0\t0\t{\"\"\"HG00102\"\"\":{\"\"\"gq\"\"\":23,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":10,\"\"\"pev\"\"\":3,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0}}\n" + + "GRCh37\t2\t2\t585\t1\t1\t585\t3to5\t10265\t10265\t-248\t248\t-248\t248\t.\t.\t00000000-0000-0000-0000-000000000000\t{\"DELLY2_SVv0.8.1\"}\tBND\tBND\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"chr2\"\"\":\"\"\"1\"\"\",\"\"\"pos2\"\"\":249239891,\"\"\"unaffectedCarriers\"\"\":0}\t0\t0\t1\t0\t0\t{\"\"\"HG00102\"\"\":{\"\"\"gq\"\"\":23,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":10,\"\"\"pev\"\"\":3,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0}}\n"; final String expectedFeatureEffects = "case_id\tset_id\tsv_uuid\trefseq_gene_id\trefseq_transcript_id\trefseq_transcript_coding\trefseq_effect\tensembl_gene_id\tensembl_transcript_id\tensembl_transcript_coding\tensembl_effect\n"; runTest( diff --git a/varfish-annotator-cli/src/test/java/com/github/bihealth/varfish_annotator/annotate_svs/AnnotateDellyVcf37Chr22Test.java b/varfish-annotator-cli/src/test/java/com/github/bihealth/varfish_annotator/annotate_svs/AnnotateDellyVcf37Chr22Test.java index 1867a79..b4bd518 100644 --- a/varfish-annotator-cli/src/test/java/com/github/bihealth/varfish_annotator/annotate_svs/AnnotateDellyVcf37Chr22Test.java +++ b/varfish-annotator-cli/src/test/java/com/github/bihealth/varfish_annotator/annotate_svs/AnnotateDellyVcf37Chr22Test.java @@ -142,7 +142,7 @@ void testWithTrio(boolean gzipOutput) throws IOException { + "GRCh37\tvarfish-annotator-db\tfor-testing\n"; final String expectedGts = "release\tchromosome\tchromosome_no\tbin\tchromosome2\tchromosome_no2\tbin2\tpe_orientation\tstart\tend\tstart_ci_left\tstart_ci_right\tend_ci_left\tend_ci_right\tcase_id\tset_id\tsv_uuid\tcallers\tsv_type\tsv_sub_type\tinfo\tnum_hom_alt\tnum_hom_ref\tnum_het\tnum_hemi_alt\tnum_hemi_ref\tgenotype\n" - + "GRCh37\t22\t22\t89\t22\t22\t89\t3to5\t17400000\t17700000\t-29\t29\t-29\t29\t.\t.\t00000000-0000-0000-0000-000000000000\t{\"EMBL.DELLYv1.1.3\"}\tDEL\tDEL\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"unaffectedCarriers\"\"\":0}\t0\t2\t1\t0\t0\t{\"\"\"Case_1_father-N1-DNA1-WGS1\"\"\":{\"\"\"cn\"\"\":2,\"\"\"ft\"\"\":[\"\"\"LowQual\"\"\"],\"\"\"gq\"\"\":14,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":0,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":34,\"\"\"srv\"\"\":4},\"\"\"Case_1_index-N1-DNA1-WGS1\"\"\":{\"\"\"cn\"\"\":2,\"\"\"gq\"\"\":35,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":0,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":29,\"\"\"srv\"\"\":2},\"\"\"Case_1_mother-N1-DNA1-WGS1\"\"\":{\"\"\"cn\"\"\":2,\"\"\"gq\"\"\":67,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":0,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":32,\"\"\"srv\"\"\":1}}\n"; + + "GRCh37\t22\t22\t89\t22\t22\t89\t3to5\t17400000\t17700000\t-29\t29\t-29\t29\t.\t.\t00000000-0000-0000-0000-000000000000\t{\"DELLY2_SVv1.1.3\"}\tDEL\tDEL\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"unaffectedCarriers\"\"\":0}\t0\t2\t1\t0\t0\t{\"\"\"Case_1_father-N1-DNA1-WGS1\"\"\":{\"\"\"cn\"\"\":2,\"\"\"ft\"\"\":[\"\"\"LowQual\"\"\"],\"\"\"gq\"\"\":14,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":0,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":34,\"\"\"srv\"\"\":4},\"\"\"Case_1_index-N1-DNA1-WGS1\"\"\":{\"\"\"cn\"\"\":2,\"\"\"gq\"\"\":35,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":0,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":29,\"\"\"srv\"\"\":2},\"\"\"Case_1_mother-N1-DNA1-WGS1\"\"\":{\"\"\"cn\"\"\":2,\"\"\"gq\"\"\":67,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":0,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":32,\"\"\"srv\"\"\":1}}\n"; final String expectedFeatureEffects = "case_id\tset_id\tsv_uuid\trefseq_gene_id\trefseq_transcript_id\trefseq_transcript_coding\trefseq_effect\tensembl_gene_id\tensembl_transcript_id\tensembl_transcript_coding\tensembl_effect\n" + ".\t.\t00000000-0000-0000-0000-000000000000\t51816\tNM_017424.2\tTRUE\t{\"transcript_ablation\",\"coding_transcript_variant\"}\tENSG00000093072\tENST00000262607.3\tTRUE\t{\"transcript_ablation\",\"coding_transcript_variant\"}\n" diff --git a/varfish-annotator-cli/src/test/java/com/github/bihealth/varfish_annotator/annotate_svs/AnnotateDellyVcf38Chr1Test.java b/varfish-annotator-cli/src/test/java/com/github/bihealth/varfish_annotator/annotate_svs/AnnotateDellyVcf38Chr1Test.java index 9f5ace5..42e3821 100644 --- a/varfish-annotator-cli/src/test/java/com/github/bihealth/varfish_annotator/annotate_svs/AnnotateDellyVcf38Chr1Test.java +++ b/varfish-annotator-cli/src/test/java/com/github/bihealth/varfish_annotator/annotate_svs/AnnotateDellyVcf38Chr1Test.java @@ -117,11 +117,11 @@ void testWithSingleton(boolean gzipOutput) throws IOException { + "GRCh38\thgmd_public\tensembl_r104\n"; final String expectedGts = "release\tchromosome\tchromosome_no\tbin\tchromosome2\tchromosome_no2\tbin2\tpe_orientation\tstart\tend\tstart_ci_left\tstart_ci_right\tend_ci_left\tend_ci_right\tcase_id\tset_id\tsv_uuid\tcallers\tsv_type\tsv_sub_type\tinfo\tnum_hom_alt\tnum_hom_ref\tnum_het\tnum_hemi_alt\tnum_hemi_ref\tgenotype\n" - + "GRCh38\t1\t1\t599\t1\t1\t599\t3to5\t1866283\t1867170\t-56\t56\t-56\t56\t.\t.\t00000000-0000-0000-0000-000000000000\t{\"EMBL.DELLYv0.8.5\"}\tDEL\tDEL\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"unaffectedCarriers\"\"\":0}\t0\t0\t1\t0\t0\t{\"\"\"HG00102\"\"\":{\"\"\"ft\"\"\":[\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":22,\"\"\"pev\"\"\":6,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0}}\n" - + "GRCh38\t1\t1\t604\t1\t1\t604\t5to3\t2583294\t2583895\t-624\t624\t-624\t624\t.\t.\t00000000-0000-0000-0000-000000000001\t{\"EMBL.DELLYv0.8.5\"}\tDUP\tDUP\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"unaffectedCarriers\"\"\":0}\t0\t0\t1\t0\t0\t{\"\"\"HG00102\"\"\":{\"\"\"ft\"\"\":[\"\"\"MIN_PE_COUNT\"\"\",\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":80,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":13,\"\"\"pev\"\"\":3,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0}}\n" - + "GRCh38\t1\t1\t654\t14\t14\t654\t3to3\t9121445\t9121445\t-3\t3\t-3\t3\t.\t.\t00000000-0000-0000-0000-000000000004\t{\"EMBL.DELLYv0.8.5\"}\tBND\tBND\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"chr2\"\"\":\"\"\"14\"\"\",\"\"\"pos2\"\"\":93713177,\"\"\"unaffectedCarriers\"\"\":0}\t0\t1\t0\t0\t0\t{\"\"\"HG00102\"\"\":{\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":50,\"\"\"pev\"\"\":17,\"\"\"src\"\"\":54,\"\"\"srv\"\"\":21}}\n" - + "GRCh38\t1\t1\t780\t1\t1\t780\t3to3\t25613682\t25614267\t-6\t6\t-6\t6\t.\t.\t00000000-0000-0000-0000-000000000002\t{\"EMBL.DELLYv0.8.5\"}\tINV\tINV\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"unaffectedCarriers\"\"\":0}\t0\t0\t1\t0\t0\t{\"\"\"HG00102\"\"\":{\"\"\"ft\"\"\":[\"\"\"MIN_PE_AAF\"\"\",\"\"\"MIN_PE_COUNT\"\"\",\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":123,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":0,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":46,\"\"\"srv\"\"\":7}}\n" - + "GRCh38\t14\t14\t1299\t1\t1\t1299\t3to3\t93713177\t93713177\t-3\t3\t-3\t3\t.\t.\t00000000-0000-0000-0000-000000000003\t{\"EMBL.DELLYv0.8.5\"}\tBND\tBND\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"chr2\"\"\":\"\"\"1\"\"\",\"\"\"pos2\"\"\":9121445,\"\"\"unaffectedCarriers\"\"\":0}\t0\t0\t1\t0\t0\t{\"\"\"HG00102\"\"\":{\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":50,\"\"\"pev\"\"\":17,\"\"\"src\"\"\":54,\"\"\"srv\"\"\":21}}\n"; + + "GRCh38\t1\t1\t599\t1\t1\t599\t3to5\t1866283\t1867170\t-56\t56\t-56\t56\t.\t.\t00000000-0000-0000-0000-000000000000\t{\"DELLY2_SVv0.8.5\"}\tDEL\tDEL\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"unaffectedCarriers\"\"\":0}\t0\t0\t1\t0\t0\t{\"\"\"HG00102\"\"\":{\"\"\"ft\"\"\":[\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":22,\"\"\"pev\"\"\":6,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0}}\n" + + "GRCh38\t1\t1\t604\t1\t1\t604\t5to3\t2583294\t2583895\t-624\t624\t-624\t624\t.\t.\t00000000-0000-0000-0000-000000000001\t{\"DELLY2_SVv0.8.5\"}\tDUP\tDUP\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"unaffectedCarriers\"\"\":0}\t0\t0\t1\t0\t0\t{\"\"\"HG00102\"\"\":{\"\"\"ft\"\"\":[\"\"\"MIN_PE_COUNT\"\"\",\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":80,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":13,\"\"\"pev\"\"\":3,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0}}\n" + + "GRCh38\t1\t1\t654\t14\t14\t654\t3to3\t9121445\t9121445\t-3\t3\t-3\t3\t.\t.\t00000000-0000-0000-0000-000000000004\t{\"DELLY2_SVv0.8.5\"}\tBND\tBND\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"chr2\"\"\":\"\"\"14\"\"\",\"\"\"pos2\"\"\":93713177,\"\"\"unaffectedCarriers\"\"\":0}\t0\t1\t0\t0\t0\t{\"\"\"HG00102\"\"\":{\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":50,\"\"\"pev\"\"\":17,\"\"\"src\"\"\":54,\"\"\"srv\"\"\":21}}\n" + + "GRCh38\t1\t1\t780\t1\t1\t780\t3to3\t25613682\t25614267\t-6\t6\t-6\t6\t.\t.\t00000000-0000-0000-0000-000000000002\t{\"DELLY2_SVv0.8.5\"}\tINV\tINV\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"unaffectedCarriers\"\"\":0}\t0\t0\t1\t0\t0\t{\"\"\"HG00102\"\"\":{\"\"\"ft\"\"\":[\"\"\"MIN_PE_AAF\"\"\",\"\"\"MIN_PE_COUNT\"\"\",\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":123,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":0,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":46,\"\"\"srv\"\"\":7}}\n" + + "GRCh38\t14\t14\t1299\t1\t1\t1299\t3to3\t93713177\t93713177\t-3\t3\t-3\t3\t.\t.\t00000000-0000-0000-0000-000000000003\t{\"DELLY2_SVv0.8.5\"}\tBND\tBND\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"chr2\"\"\":\"\"\"1\"\"\",\"\"\"pos2\"\"\":9121445,\"\"\"unaffectedCarriers\"\"\":0}\t0\t0\t1\t0\t0\t{\"\"\"HG00102\"\"\":{\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":50,\"\"\"pev\"\"\":17,\"\"\"src\"\"\":54,\"\"\"srv\"\"\":21}}\n"; final String expectedFeatureEffects = "case_id\tset_id\tsv_uuid\trefseq_gene_id\trefseq_transcript_id\trefseq_transcript_coding\trefseq_effect\tensembl_gene_id\tensembl_transcript_id\tensembl_transcript_coding\tensembl_effect\n"; runTest( @@ -146,11 +146,11 @@ void testWithTrio(boolean gzipOutput) throws IOException { + "GRCh38\thgmd_public\tensembl_r104\n"; final String expectedGts = "release\tchromosome\tchromosome_no\tbin\tchromosome2\tchromosome_no2\tbin2\tpe_orientation\tstart\tend\tstart_ci_left\tstart_ci_right\tend_ci_left\tend_ci_right\tcase_id\tset_id\tsv_uuid\tcallers\tsv_type\tsv_sub_type\tinfo\tnum_hom_alt\tnum_hom_ref\tnum_het\tnum_hemi_alt\tnum_hemi_ref\tgenotype\n" - + "GRCh38\t1\t1\t599\t1\t1\t599\t3to5\t1866283\t1867170\t-56\t56\t-56\t56\t.\t.\t00000000-0000-0000-0000-000000000000\t{\"EMBL.DELLYv0.8.5\"}\tDEL\tDEL\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"unaffectedCarriers\"\"\":0}\t0\t1\t2\t0\t0\t{\"\"\"NA12878\"\"\":{\"\"\"ft\"\"\":[\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":22,\"\"\"pev\"\"\":6,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0},\"\"\"NA12891\"\"\":{\"\"\"ft\"\"\":[\"\"\"MAX_PE_AAF\"\"\"],\"\"\"gq\"\"\":127,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":11,\"\"\"pev\"\"\":4,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0},\"\"\"NA12892\"\"\":{\"\"\"gq\"\"\":57,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":19,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0}}\n" - + "GRCh38\t1\t1\t604\t1\t1\t604\t5to3\t2583294\t2583895\t-624\t624\t-624\t624\t.\t.\t00000000-0000-0000-0000-000000000001\t{\"EMBL.DELLYv0.8.5\"}\tDUP\tDUP\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"unaffectedCarriers\"\"\":0}\t0\t2\t1\t0\t0\t{\"\"\"NA12878\"\"\":{\"\"\"ft\"\"\":[\"\"\"MIN_PE_COUNT\"\"\",\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":80,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":13,\"\"\"pev\"\"\":3,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0},\"\"\"NA12891\"\"\":{\"\"\"gq\"\"\":24,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":12,\"\"\"pev\"\"\":1,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0},\"\"\"NA12892\"\"\":{\"\"\"gq\"\"\":39,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":13,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0}}\n" - + "GRCh38\t1\t1\t654\t14\t14\t654\t3to3\t9121445\t9121445\t-3\t3\t-3\t3\t.\t.\t00000000-0000-0000-0000-000000000004\t{\"EMBL.DELLYv0.8.5\"}\tBND\tBND\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"chr2\"\"\":\"\"\"14\"\"\",\"\"\"pos2\"\"\":93713177,\"\"\"unaffectedCarriers\"\"\":0}\t0\t3\t0\t0\t0\t{\"\"\"NA12878\"\"\":{\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":50,\"\"\"pev\"\"\":17,\"\"\"src\"\"\":54,\"\"\"srv\"\"\":21},\"\"\"NA12891\"\"\":{\"\"\"gq\"\"\":93,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":31,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":31,\"\"\"srv\"\"\":0},\"\"\"NA12892\"\"\":{\"\"\"ft\"\"\":[\"\"\"MAX_PE_AAF\"\"\",\"\"\"MAX_PE_COUNT\"\"\",\"\"\"MAX_SR_AAF\"\"\",\"\"\"MAX_SR_COUNT\"\"\"],\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":39,\"\"\"pev\"\"\":15,\"\"\"src\"\"\":37,\"\"\"srv\"\"\":18}}\n" - + "GRCh38\t1\t1\t780\t1\t1\t780\t3to3\t25613682\t25614267\t-6\t6\t-6\t6\t.\t.\t00000000-0000-0000-0000-000000000002\t{\"EMBL.DELLYv0.8.5\"}\tINV\tINV\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"unaffectedCarriers\"\"\":0}\t0\t0\t3\t0\t0\t{\"\"\"NA12878\"\"\":{\"\"\"ft\"\"\":[\"\"\"MIN_PE_AAF\"\"\",\"\"\"MIN_PE_COUNT\"\"\",\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":123,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":0,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":46,\"\"\"srv\"\"\":7},\"\"\"NA12891\"\"\":{\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":0,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":43,\"\"\"srv\"\"\":8},\"\"\"NA12892\"\"\":{\"\"\"gq\"\"\":157,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":0,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":56,\"\"\"srv\"\"\":8}}\n" - + "GRCh38\t14\t14\t1299\t1\t1\t1299\t3to3\t93713177\t93713177\t-3\t3\t-3\t3\t.\t.\t00000000-0000-0000-0000-000000000003\t{\"EMBL.DELLYv0.8.5\"}\tBND\tBND\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"chr2\"\"\":\"\"\"1\"\"\",\"\"\"pos2\"\"\":9121445,\"\"\"unaffectedCarriers\"\"\":0}\t0\t1\t2\t0\t0\t{\"\"\"NA12878\"\"\":{\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":50,\"\"\"pev\"\"\":17,\"\"\"src\"\"\":54,\"\"\"srv\"\"\":21},\"\"\"NA12891\"\"\":{\"\"\"gq\"\"\":93,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":31,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":31,\"\"\"srv\"\"\":0},\"\"\"NA12892\"\"\":{\"\"\"ft\"\"\":[\"\"\"MAX_PE_AAF\"\"\",\"\"\"MAX_PE_COUNT\"\"\",\"\"\"MAX_SR_AAF\"\"\",\"\"\"MAX_SR_COUNT\"\"\"],\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":39,\"\"\"pev\"\"\":15,\"\"\"src\"\"\":37,\"\"\"srv\"\"\":18}}\n"; + + "GRCh38\t1\t1\t599\t1\t1\t599\t3to5\t1866283\t1867170\t-56\t56\t-56\t56\t.\t.\t00000000-0000-0000-0000-000000000000\t{\"DELLY2_SVv0.8.5\"}\tDEL\tDEL\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"unaffectedCarriers\"\"\":0}\t0\t1\t2\t0\t0\t{\"\"\"NA12878\"\"\":{\"\"\"ft\"\"\":[\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":22,\"\"\"pev\"\"\":6,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0},\"\"\"NA12891\"\"\":{\"\"\"ft\"\"\":[\"\"\"MAX_PE_AAF\"\"\"],\"\"\"gq\"\"\":127,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":11,\"\"\"pev\"\"\":4,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0},\"\"\"NA12892\"\"\":{\"\"\"gq\"\"\":57,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":19,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0}}\n" + + "GRCh38\t1\t1\t604\t1\t1\t604\t5to3\t2583294\t2583895\t-624\t624\t-624\t624\t.\t.\t00000000-0000-0000-0000-000000000001\t{\"DELLY2_SVv0.8.5\"}\tDUP\tDUP\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"unaffectedCarriers\"\"\":0}\t0\t2\t1\t0\t0\t{\"\"\"NA12878\"\"\":{\"\"\"ft\"\"\":[\"\"\"MIN_PE_COUNT\"\"\",\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":80,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":13,\"\"\"pev\"\"\":3,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0},\"\"\"NA12891\"\"\":{\"\"\"gq\"\"\":24,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":12,\"\"\"pev\"\"\":1,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0},\"\"\"NA12892\"\"\":{\"\"\"gq\"\"\":39,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":13,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":0,\"\"\"srv\"\"\":0}}\n" + + "GRCh38\t1\t1\t654\t14\t14\t654\t3to3\t9121445\t9121445\t-3\t3\t-3\t3\t.\t.\t00000000-0000-0000-0000-000000000004\t{\"DELLY2_SVv0.8.5\"}\tBND\tBND\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"chr2\"\"\":\"\"\"14\"\"\",\"\"\"pos2\"\"\":93713177,\"\"\"unaffectedCarriers\"\"\":0}\t0\t3\t0\t0\t0\t{\"\"\"NA12878\"\"\":{\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":50,\"\"\"pev\"\"\":17,\"\"\"src\"\"\":54,\"\"\"srv\"\"\":21},\"\"\"NA12891\"\"\":{\"\"\"gq\"\"\":93,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":31,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":31,\"\"\"srv\"\"\":0},\"\"\"NA12892\"\"\":{\"\"\"ft\"\"\":[\"\"\"MAX_PE_AAF\"\"\",\"\"\"MAX_PE_COUNT\"\"\",\"\"\"MAX_SR_AAF\"\"\",\"\"\"MAX_SR_COUNT\"\"\"],\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":39,\"\"\"pev\"\"\":15,\"\"\"src\"\"\":37,\"\"\"srv\"\"\":18}}\n" + + "GRCh38\t1\t1\t780\t1\t1\t780\t3to3\t25613682\t25614267\t-6\t6\t-6\t6\t.\t.\t00000000-0000-0000-0000-000000000002\t{\"DELLY2_SVv0.8.5\"}\tINV\tINV\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"unaffectedCarriers\"\"\":0}\t0\t0\t3\t0\t0\t{\"\"\"NA12878\"\"\":{\"\"\"ft\"\"\":[\"\"\"MIN_PE_AAF\"\"\",\"\"\"MIN_PE_COUNT\"\"\",\"\"\"MIN_SR_AAF\"\"\",\"\"\"MIN_SR_COUNT\"\"\"],\"\"\"gq\"\"\":123,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":0,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":46,\"\"\"srv\"\"\":7},\"\"\"NA12891\"\"\":{\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":0,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":43,\"\"\"srv\"\"\":8},\"\"\"NA12892\"\"\":{\"\"\"gq\"\"\":157,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":0,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":56,\"\"\"srv\"\"\":8}}\n" + + "GRCh38\t14\t14\t1299\t1\t1\t1299\t3to3\t93713177\t93713177\t-3\t3\t-3\t3\t.\t.\t00000000-0000-0000-0000-000000000003\t{\"DELLY2_SVv0.8.5\"}\tBND\tBND\t{\"\"\"affectedCarriers\"\"\":0,\"\"\"backgroundCarriers\"\"\":0,\"\"\"chr2\"\"\":\"\"\"1\"\"\",\"\"\"pos2\"\"\":9121445,\"\"\"unaffectedCarriers\"\"\":0}\t0\t1\t2\t0\t0\t{\"\"\"NA12878\"\"\":{\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":50,\"\"\"pev\"\"\":17,\"\"\"src\"\"\":54,\"\"\"srv\"\"\":21},\"\"\"NA12891\"\"\":{\"\"\"gq\"\"\":93,\"\"\"gt\"\"\":\"\"\"0/0\"\"\",\"\"\"pec\"\"\":31,\"\"\"pev\"\"\":0,\"\"\"src\"\"\":31,\"\"\"srv\"\"\":0},\"\"\"NA12892\"\"\":{\"\"\"ft\"\"\":[\"\"\"MAX_PE_AAF\"\"\",\"\"\"MAX_PE_COUNT\"\"\",\"\"\"MAX_SR_AAF\"\"\",\"\"\"MAX_SR_COUNT\"\"\"],\"\"\"gq\"\"\":10000,\"\"\"gt\"\"\":\"\"\"0/1\"\"\",\"\"\"pec\"\"\":39,\"\"\"pev\"\"\":15,\"\"\"src\"\"\":37,\"\"\"srv\"\"\":18}}\n"; final String expectedFeatureEffects = "case_id\tset_id\tsv_uuid\trefseq_gene_id\trefseq_transcript_id\trefseq_transcript_coding\trefseq_effect\tensembl_gene_id\tensembl_transcript_id\tensembl_transcript_coding\tensembl_effect\n"; runTest( diff --git a/varfish-annotator-cli/src/test/resources/input/grch37-chr1/bwa.delly2.HG00102.bnd.vcf b/varfish-annotator-cli/src/test/resources/input/grch37-chr1/bwa.delly2.HG00102.bnd.vcf index 0674280..b349423 100644 --- a/varfish-annotator-cli/src/test/resources/input/grch37-chr1/bwa.delly2.HG00102.bnd.vcf +++ b/varfish-annotator-cli/src/test/resources/input/grch37-chr1/bwa.delly2.HG00102.bnd.vcf @@ -1,3 +1,3 @@ version https://git-lfs.github.com/spec/v1 -oid sha256:df0253a29c06e6bd142807ee3f33e3e4607a122a599f6ab69f8603f5319682e7 -size 7231 +oid sha256:a6ab3d08cb303c309e21bd7cdef9d6516f339525bd496828684ed2af881dc35d +size 7230 diff --git a/varfish-annotator-cli/src/test/resources/input/grch37-chr1/bwa.delly2.HG00102.hemi.vcf b/varfish-annotator-cli/src/test/resources/input/grch37-chr1/bwa.delly2.HG00102.hemi.vcf index b9710df..b77d4ea 100644 --- a/varfish-annotator-cli/src/test/resources/input/grch37-chr1/bwa.delly2.HG00102.hemi.vcf +++ b/varfish-annotator-cli/src/test/resources/input/grch37-chr1/bwa.delly2.HG00102.hemi.vcf @@ -1,3 +1,3 @@ version https://git-lfs.github.com/spec/v1 -oid sha256:cd8271b728d49ff4499850451d0e7df0ac9d08a1df52153291a39eeacb593116 -size 7497 +oid sha256:891f43ebc4c6149413f81fa8bd6121904b6c73e1f7858df4c679abea676b7816 +size 7495 diff --git a/varfish-annotator-cli/src/test/resources/input/grch37-chr1/bwa.delly2.HG00102.vcf b/varfish-annotator-cli/src/test/resources/input/grch37-chr1/bwa.delly2.HG00102.vcf index 7a8a98c..b2e3672 100644 --- a/varfish-annotator-cli/src/test/resources/input/grch37-chr1/bwa.delly2.HG00102.vcf +++ b/varfish-annotator-cli/src/test/resources/input/grch37-chr1/bwa.delly2.HG00102.vcf @@ -1,3 +1,3 @@ version https://git-lfs.github.com/spec/v1 -oid sha256:87af3d0aadb1e335fcdd1fbd44c41300715b9cce1b779248888c5b6600b78ab4 -size 8520 +oid sha256:3f4222fa4f32313ec1cbf0edc9e2eda8f553c968123d0e7979ce8d0128185aaf +size 8516 diff --git a/varfish-annotator-cli/src/test/resources/input/grch37-chr1/bwa.delly2.NA12878.hemi.vcf b/varfish-annotator-cli/src/test/resources/input/grch37-chr1/bwa.delly2.NA12878.hemi.vcf index 96f977b..ef1351a 100644 --- a/varfish-annotator-cli/src/test/resources/input/grch37-chr1/bwa.delly2.NA12878.hemi.vcf +++ b/varfish-annotator-cli/src/test/resources/input/grch37-chr1/bwa.delly2.NA12878.hemi.vcf @@ -1,3 +1,3 @@ version https://git-lfs.github.com/spec/v1 -oid sha256:78f11bafc10ac2a0c46ad465b919e9d7b74390c18442caec6c25c6f9f19a511c -size 7727 +oid sha256:abd5f680a7043278631c4721c3a3f7954b6d129292d79088399c874e159856ae +size 7725 diff --git a/varfish-annotator-cli/src/test/resources/input/grch37-chr1/bwa.delly2.NA12878.vcf b/varfish-annotator-cli/src/test/resources/input/grch37-chr1/bwa.delly2.NA12878.vcf index d87dab0..2c17032 100644 --- a/varfish-annotator-cli/src/test/resources/input/grch37-chr1/bwa.delly2.NA12878.vcf +++ b/varfish-annotator-cli/src/test/resources/input/grch37-chr1/bwa.delly2.NA12878.vcf @@ -1,3 +1,3 @@ version https://git-lfs.github.com/spec/v1 -oid sha256:27e9836a78421fd95e86c5319e5338400fa941833de47acdba56d295b97e3943 -size 9029 +oid sha256:40fcd4a07d5202596f78f57591c2365aa4348b43d246b29cd625a4b546725675 +size 9025 diff --git a/varfish-annotator-cli/src/test/resources/input/grch37-chr22/Case_1_index.delly2.gts.tsv-expected b/varfish-annotator-cli/src/test/resources/input/grch37-chr22/Case_1_index.delly2.gts.tsv-expected index 2625866..e093197 100644 --- a/varfish-annotator-cli/src/test/resources/input/grch37-chr22/Case_1_index.delly2.gts.tsv-expected +++ b/varfish-annotator-cli/src/test/resources/input/grch37-chr22/Case_1_index.delly2.gts.tsv-expected @@ -1,2 +1,2 @@ release chromosome chromosome_no bin chromosome2 chromosome_no2 bin2 pe_orientation start end start_ci_left start_ci_right end_ci_left end_ci_right case_id set_id sv_uuid caller sv_type sv_sub_type info num_hom_alt num_hom_ref num_het num_hemi_alt num_hemi_ref genotype -GRCh37 22 22 89 22 22 89 3to5 17400000 17700000 -29 29 -29 29 . . UUID EMBL.DELLYv1.1.3 DEL DEL {"""backgroundCarriers""":0,"""affectedCarriers""":0,"""unaffectedCarriers""":0} 0 2 1 0 0 {"""Case_1_father-N1-DNA1-WGS1""":{"""gt""":"""0/1""","""ft""":{"""LowQual"""},"""gq""":14,"""pec""":0,"""pev""":0,"""src""":34,"""srv""":4,"""cn""":2},"""Case_1_index-N1-DNA1-WGS1""":{"""gt""":"""0/0""","""gq""":35,"""pec""":0,"""pev""":0,"""src""":29,"""srv""":2,"""cn""":2},"""Case_1_mother-N1-DNA1-WGS1""":{"""gt""":"""0/0""","""gq""":67,"""pec""":0,"""pev""":0,"""src""":32,"""srv""":1,"""cn""":2}} +GRCh37 22 22 89 22 22 89 3to5 17400000 17700000 -29 29 -29 29 . . UUID DELLY2_SVv1.1.3 DEL DEL {"""backgroundCarriers""":0,"""affectedCarriers""":0,"""unaffectedCarriers""":0} 0 2 1 0 0 {"""Case_1_father-N1-DNA1-WGS1""":{"""gt""":"""0/1""","""ft""":{"""LowQual"""},"""gq""":14,"""pec""":0,"""pev""":0,"""src""":34,"""srv""":4,"""cn""":2},"""Case_1_index-N1-DNA1-WGS1""":{"""gt""":"""0/0""","""gq""":35,"""pec""":0,"""pev""":0,"""src""":29,"""srv""":2,"""cn""":2},"""Case_1_mother-N1-DNA1-WGS1""":{"""gt""":"""0/0""","""gq""":67,"""pec""":0,"""pev""":0,"""src""":32,"""srv""":1,"""cn""":2}} diff --git a/varfish-annotator-cli/src/test/resources/input/grch38-chr1/bwa.delly2.HG00102.vcf b/varfish-annotator-cli/src/test/resources/input/grch38-chr1/bwa.delly2.HG00102.vcf index 12deeb9..57789c9 100644 --- a/varfish-annotator-cli/src/test/resources/input/grch38-chr1/bwa.delly2.HG00102.vcf +++ b/varfish-annotator-cli/src/test/resources/input/grch38-chr1/bwa.delly2.HG00102.vcf @@ -1,3 +1,3 @@ version https://git-lfs.github.com/spec/v1 -oid sha256:6230959442cebb4039b27326a5f06c074af0becaec68383b35ddf8a8cd475be3 -size 13954 +oid sha256:2aed774b30100f43106a60083c87007c78223f2ac78b7bddf2572a8e09226f7d +size 13950 diff --git a/varfish-annotator-cli/src/test/resources/input/grch38-chr1/bwa.delly2.NA12878.vcf b/varfish-annotator-cli/src/test/resources/input/grch38-chr1/bwa.delly2.NA12878.vcf index 921574b..9c3cfda 100644 --- a/varfish-annotator-cli/src/test/resources/input/grch38-chr1/bwa.delly2.NA12878.vcf +++ b/varfish-annotator-cli/src/test/resources/input/grch38-chr1/bwa.delly2.NA12878.vcf @@ -1,3 +1,3 @@ version https://git-lfs.github.com/spec/v1 -oid sha256:ec70c7f9d09df8151f2ba129fa35f59e71b6aa306814712ee5916a1a2cae1621 -size 14463 +oid sha256:73f7dd98f2412e7ac55cb0bbf1960cdb25c673a86c63a45569b93e0097c783b5 +size 14459 diff --git a/varfish-annotator-cli/src/test/resources/input/real-world-37/bwa.delly2.Case_1_index-N1-DNA1-WGS1.gts.tsv b/varfish-annotator-cli/src/test/resources/input/real-world-37/bwa.delly2.Case_1_index-N1-DNA1-WGS1.gts.tsv index 6502f0d..a633332 100644 --- a/varfish-annotator-cli/src/test/resources/input/real-world-37/bwa.delly2.Case_1_index-N1-DNA1-WGS1.gts.tsv +++ b/varfish-annotator-cli/src/test/resources/input/real-world-37/bwa.delly2.Case_1_index-N1-DNA1-WGS1.gts.tsv @@ -1,3 +1,3 @@ version https://git-lfs.github.com/spec/v1 -oid sha256:47578a2f0e39b19b26112e2997c92cfd05e8d90f52f49587fcc02da80b1bacd7 -size 19624825 +oid sha256:558b873f30c62a92e71a265301957eee5c47297bbe6cac473c25f654d074c4e0 +size 19593217 diff --git a/varfish-annotator-core/src/main/java/com/github/bihealth/varfish_annotator/annotate_svs/GtRecordBuilder.java b/varfish-annotator-core/src/main/java/com/github/bihealth/varfish_annotator/annotate_svs/GtRecordBuilder.java index b5c38eb..d7bb933 100644 --- a/varfish-annotator-core/src/main/java/com/github/bihealth/varfish_annotator/annotate_svs/GtRecordBuilder.java +++ b/varfish-annotator-core/src/main/java/com/github/bihealth/varfish_annotator/annotate_svs/GtRecordBuilder.java @@ -19,7 +19,7 @@ public class GtRecordBuilder { public static final String FEATURE_CALLERS_ARRAY = "callers-array"; private final String release; - private final String defaultSvMethod; + private final String svMethod; private final String optOutFeatures; private final String caseId; private final String setId; @@ -28,14 +28,14 @@ public class GtRecordBuilder { public GtRecordBuilder( String release, - String defaultSvMethod, + String svMethod, String optOutFeatures, String caseId, String setId, Pedigree pedigree, CallerSupport callerSupport) { this.release = release; - this.defaultSvMethod = defaultSvMethod; + this.svMethod = svMethod; this.optOutFeatures = optOutFeatures; this.caseId = caseId; this.setId = setId; @@ -88,10 +88,6 @@ public GenotypeRecord buildRecord( builder.setSetId(setId); builder.setSvUuid(variantId.toString()); - String svMethod = ctx.getCommonInfo().getAttributeAsString("SVMETHOD", null); - if (svMethod == null) { - svMethod = defaultSvMethod == null ? "." : defaultSvMethod; - } builder.setCaller(svMethod); if (!".".equals(svMethod)) { builder.setCallers(ImmutableList.of(svMethod)); diff --git a/varfish-annotator-core/src/test/resources/callers-sv/delly2-head.vcf b/varfish-annotator-core/src/test/resources/callers-sv/delly2-head.vcf index b7d7b24..13adb57 100644 --- a/varfish-annotator-core/src/test/resources/callers-sv/delly2-head.vcf +++ b/varfish-annotator-core/src/test/resources/callers-sv/delly2-head.vcf @@ -129,4 +129,4 @@ ##bcftools_viewVersion=1.15.1+htslib-1.15.1 ##bcftools_viewCommand=view -O z -o work/bwa.delly2.SAMPLE-N1-DNA1-WGS1/out/bwa.delly2.SAMPLE-N1-DNA1-WGS1.vcf.gz /data/gpfs-1/users/holtgrem_c/scratch/tmp/hpc-cpu-164/20220829/tmp.jo3WnHhrQp/cwd/1.bcf; Date=Mon Aug 29 16:04:36 2022 #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT SAMPLE -1 586412 DEL00000004 C 92 PASS PRECISE;SVTYPE=DEL;SVMETHOD=EMBL.DELLYv1.1.3;END=586439;PE=0;MAPQ=0;CT=3to5;CIPOS=-20,20;CIEND=-20,20;SRMAPQ=23;INSLEN=0;HOMLEN=20;SR=4;SRQ=1;CONSENSUS=CTCAGGGTGTTCGGGATAAAGAAGACTCAGGAAGACAAGTATGAAGCATAATCTGTGACATTATTGATATCTTCCTGAAGAACATAATTCCTGCCTACCATCAACAAGCATCAATACTTTCTACCAGCTATTCTCAACCCTCATCATCGGAAGAGACAGACACTGACTGTGTCAAA;CE=1.96018;AC=3;AN=6 GT:GL:GQ:FT:RCL:RC:RCR:RDCN:DR:DV:RR:RV 0/1:-5.90527,0,-14.2974:59:PASS:203:373:203:2:0:0:7:4 0/1:-2.23535,0,-11.3961:22:PASS:188:321:130:2:0:0:6:2 0/1:-1.0313,0,-19.791:10:LowQual:327:515:247:2:0:0:11:2 +1 586412 DEL00000004 C 92 PASS PRECISE;SVTYPE=DEL;SVMETHOD=DELLY2_SVv1.1.3;END=586439;PE=0;MAPQ=0;CT=3to5;CIPOS=-20,20;CIEND=-20,20;SRMAPQ=23;INSLEN=0;HOMLEN=20;SR=4;SRQ=1;CONSENSUS=CTCAGGGTGTTCGGGATAAAGAAGACTCAGGAAGACAAGTATGAAGCATAATCTGTGACATTATTGATATCTTCCTGAAGAACATAATTCCTGCCTACCATCAACAAGCATCAATACTTTCTACCAGCTATTCTCAACCCTCATCATCGGAAGAGACAGACACTGACTGTGTCAAA;CE=1.96018;AC=3;AN=6 GT:GL:GQ:FT:RCL:RC:RCR:RDCN:DR:DV:RR:RV 0/1:-5.90527,0,-14.2974:59:PASS:203:373:203:2:0:0:7:4 0/1:-2.23535,0,-11.3961:22:PASS:188:321:130:2:0:0:6:2 0/1:-1.0313,0,-19.791:10:LowQual:327:515:247:2:0:0:11:2