# HG changeset patch
# User iuc
# Date 1544808863 18000
# Node ID 5fb59611125ed20f76f039111e9c1f8aa188ac14
# Parent 1a30b31af89a7a00b0195bb2eb82716704659d3a
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 283362494058ed64143b1f27afb447b8a1cb4313
diff -r 1a30b31af89a -r 5fb59611125e gemini_actionable_mutations.xml
--- a/gemini_actionable_mutations.xml Sat Dec 08 10:26:24 2018 -0500
+++ b/gemini_actionable_mutations.xml Fri Dec 14 12:34:23 2018 -0500
@@ -24,7 +24,7 @@
-
+
diff -r 1a30b31af89a -r 5fb59611125e gemini_macros.xml
--- a/gemini_macros.xml Sat Dec 08 10:26:24 2018 -0500
+++ b/gemini_macros.xml Fri Dec 14 12:34:23 2018 -0500
@@ -28,7 +28,7 @@
-
+
diff -r 1a30b31af89a -r 5fb59611125e repository_dependencies.xml
--- a/repository_dependencies.xml Sat Dec 08 10:26:24 2018 -0500
+++ b/repository_dependencies.xml Fri Dec 14 12:34:23 2018 -0500
@@ -1,4 +1,4 @@
-
+
-
-
+
+
\ No newline at end of file
diff -r 1a30b31af89a -r 5fb59611125e test-data/anno.bed
--- a/test-data/anno.bed Sat Dec 08 10:26:24 2018 -0500
+++ b/test-data/anno.bed Fri Dec 14 12:34:23 2018 -0500
@@ -1,3 +1,3 @@
-chr1 30547 30548
-chr1 30920 30925
-chr1 30922 30923
+chr3 187000000 187150000
+chr3 187150000 187300000
+chr3 187300000 187450000
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_amend.ped
--- /dev/null Thu Jan 01 00:00:00 1970 +0000
+++ b/test-data/gemini_amend.ped Fri Dec 14 12:34:23 2018 -0500
@@ -0,0 +1,10 @@
+#family_id sample_id paternal_id maternal_id sex phenotype
+1 1_dad 0 0 -1 1
+1 1_mom 0 0 -1 1
+1 1_kid 1_dad 1_mom -1 2
+2 2_dad 0 0 -1 1
+2 2_mom 0 0 -1 1
+2 2_kid 2_dad 2_mom -1 2
+3 3_dad 0 0 -1 1
+3 3_mom 0 0 -1 1
+3 3_kid 3_dad 3_mom -1 2
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_amend.vcf
--- /dev/null Thu Jan 01 00:00:00 1970 +0000
+++ b/test-data/gemini_amend.vcf Fri Dec 14 12:34:23 2018 -0500
@@ -0,0 +1,127 @@
+##fileformat=VCFv4.1
+##FORMAT=
+##FORMAT=
+##FORMAT=
+##FORMAT=
+##FORMAT=
+##INFO=
+##INFO=
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+##INFO=
+##UnifiedGenotyper="analysis_type=UnifiedGenotyper input_file=[bam/M10478.conc.on.pos.realigned.bam, bam/M10475.conc.on.pos.realigned.bam, bam/M10500.conc.on.pos.realigned.bam, bam/M128215.conc.on.pos.realigned.bam] read_buffer_size=null phone_home=STANDARD read_filter=[] intervals=null excludeIntervals=null interval_set_rule=UNION interval_merging=ALL reference_sequence=/m/cphg-quinlan/cphg-quinlan/shared/genomes/hg19/bwa/gatk/hg19_gatk.fa rodBind=[] nonDeterministicRandomSeed=false downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=250 baq=OFF baqGapOpenPenalty=40.0 performanceLog=null useOriginalQualities=false defaultBaseQualities=-1 validation_strictness=SILENT unsafe=null num_threads=10 num_cpu_threads=null num_io_threads=null num_bam_file_handles=null read_group_black_list=null pedigree=[] pedigreeString=[] pedigreeValidationType=STRICT allow_intervals_with_unindexed_bam=false logging_level=INFO log_to_file=null help=false genotype_likelihoods_model=BOTH p_nonref_model=EXACT heterozygosity=0.0010 pcr_error_rate=1.0E-4 genotyping_mode=DISCOVERY output_mode=EMIT_VARIANTS_ONLY standard_min_confidence_threshold_for_calling=30.0 standard_min_confidence_threshold_for_emitting=30.0 computeSLOD=false alleles=(RodBinding name= source=UNBOUND) min_base_quality_score=17 max_deletion_fraction=0.05 multiallelic=false max_alternate_alleles=5 min_indel_count_for_genotyping=5 indel_heterozygosity=1.25E-4 indelGapContinuationPenalty=10.0 indelGapOpenPenalty=45.0 indelHaplotypeSize=80 bandedIndel=false indelDebug=false ignoreSNPAlleles=false dbsnp=(RodBinding name= source=UNBOUND) out=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub NO_HEADER=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub sites_only=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub debug_file=null metrics_file=null annotation=[] excludeAnnotation=[] filter_mismatching_base_and_quals=false"
+##contig=
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+##reference=file:///m/cphg-quinlan/cphg-quinlan/shared/genomes/hg19/bwa/gatk/hg19_gatk.fa
+##INFO=
+##SnpEffVersion="SnpEff 3.0g (build 2012-08-31), by Pablo Cingolani"
+##SnpEffCmd="SnpEff -i vcf -o vcf GRCh37.66 test4.vep.vcf "
+##INFO=
+#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT 1_dad 1_mom 1_kid 2_dad 2_mom 2_kid 3_dad 3_mom 3_kid
+chr10 1142208 . T C 3404.3 . AC=8;AF=1.00;AN=8;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6747;MQ=36.00;MQ0=0;QD=27.90;CSQ=intron_variant|||ENSG00000047056|WDR37|ENST00000263150|||,downstream_gene_variant|||ENSG00000047056|WDR37|ENST00000436154|||,intron_variant|||ENSG00000047056|WDR37|ENST00000358220|||,stop_lost|Tga/Cga|*/R|ENSG00000047056|WDR37|ENST00000381329|9/9||;EFF=DOWNSTREAM(MODIFIER||||208|WDR37|protein_coding|CODING|ENST00000436154|),INTRON(MODIFIER||||494|WDR37|protein_coding|CODING|ENST00000263150|),INTRON(MODIFIER||||494|WDR37|protein_coding|CODING|ENST00000358220|),STOP_LOST(HIGH|MISSENSE|Tga/Cga|*250R|249|WDR37|protein_coding|CODING|ENST00000381329|exon_10_1142110_1142566) GT:AD:DP:GQ:PL 0/1:1,37:39:87.16:940,87,0 0/1:0,29:29:78.20:899,78,0 1/1:0,24:24:66.14:729,66,0 0/1:1,37:59:87.16:940,87,0 0/1:0,29:49:78.20:899,78,0 1/1:0,24:64:66.14:729,66,0 0/1:1,37:39:87.16:940,87,0 0/1:0,29:29:78.20:899,78,0 0/1:0,24:24:66.14:729,66,0
+chr10 48003992 . C T 1047.87 . AC=4;AF=0.50;AN=8;BaseQRankSum=-0.053;DP=165;Dels=0.00;FS=6.377;HRun=0;HaplotypeScore=4.3830;MQ=20.94;MQ0=0;MQRankSum=-0.368;QD=9.53;ReadPosRankSum=1.346;CSQ=missense_variant|tGt/tAt|C/Y|ENSG00000072444|ASAH2C|ENST00000420079|16/17|benign(0)|tolerated(1),missense_variant|tGt/tAt|C/Y|ENSG00000072444|ASAH2C|ENST00000426610|17/18|benign(0)|tolerated(1);EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tAt|C540Y|610|ASAH2C|protein_coding|CODING|ENST00000420079|exon_10_48003968_48004056),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tAt|C552Y|622|ASAH2C|protein_coding|CODING|ENST00000426610|exon_10_48003968_48004056) GT:AD:DP:GQ:PL 0/1:1,37:39:87.16:940,87,0 0/1:0,29:29:78.20:899,78,0 1/1:0,24:24:66.14:729,66,0 0/1:1,37:39:87.16:940,87,0 0/1:0,29:29:78.20:899,78,0 0/1:0,24:24:66.14:729,66,0 0/1:1,37:39:87.16:940,87,0 0/1:0,29:29:78.20:899,78,0 0/1:0,24:24:66.14:729,66,0
+chr10 48004992 . C T 1047.87 . AC=4;AF=0.50;AN=8;BaseQRankSum=-0.053;DP=165;Dels=0.00;FS=6.377;HRun=0;HaplotypeScore=4.3830;MQ=20.94;MQ0=0;MQRankSum=-0.368;QD=9.53;ReadPosRankSum=1.346;CSQ=missense_variant|tGt/tAt|C/Y|ENSG00000072444|ASAH2C|ENST00000420079|16/17|benign(0)|tolerated(1),missense_variant|tGt/tAt|C/Y|ENSG00000072444|ASAH2C|ENST00000426610|17/18|benign(0)|tolerated(1);EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tAt|C540Y|610|ASAH2C|protein_coding|CODING|ENST00000420079|exon_10_48003968_48004056),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tAt|C552Y|622|ASAH2C|protein_coding|CODING|ENST00000426610|exon_10_48003968_48004056) GT:AD:DP:GQ:PL 0/1:1,37:39:87.16:940,87,0 0/1:0,29:29:78.20:899,78,0 0/1:0,24:24:66.14:729,66,0 0/1:1,37:39:87.16:940,87,0 0/1:0,29:29:78.20:899,78,0 1/1:0,24:24:66.14:729,66,0 0/1:1,37:39:87.16:940,87,0 0/1:0,29:29:78.20:899,78,0 0/1:0,24:24:66.14:729,66,0
+chr10 135336656 . G A 38.34 . AC=4;AF=1.00;AN=4;DP=2;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=37.00;MQ0=0;QD=19.17;CSQ=upstream_gene_variant|||ENSG00000130649|CYP2E1|ENST00000418356|||,intron_variant&nc_transcript_variant|||ENSG00000214279||ENST00000488261|||,intron_variant|||ENSG00000203772|SPRN|ENST00000541506|||,upstream_gene_variant|||ENSG00000130649|CYP2E1|ENST00000541261|||,upstream_gene_variant|||ENSG00000130649|CYP2E1|ENST00000421586|||,intron_variant|||ENSG00000130649|CYP2E1|ENST00000463117|||,upstream_gene_variant|||ENSG00000130649|CYP2E1|ENST00000252945|||,upstream_gene_variant|||ENSG00000130649|CYP2E1|ENST00000541080|||,upstream_gene_variant|||ENSG00000130649|CYP2E1|ENST00000477500|||,upstream_gene_variant|||ENSG00000130649|CYP2E1|ENST00000480558|||,intron_variant|||ENSG00000214279||ENST00000356567|||;EFF=INTRON(MODIFIER||||151|SPRN|protein_coding|CODING|ENST00000541506|),INTRON(MODIFIER||||493|CYP2E1|protein_coding|CODING|ENST00000463117|),INTRON(MODIFIER||||693|RP11-108K14.4.1|protein_coding|CODING|ENST00000356567|),INTRON(MODIFIER|||||RP11-108K14.4.1|retained_intron|CODING|ENST00000488261|),UPSTREAM(MODIFIER||||305|CYP2E1|protein_coding|CODING|ENST00000418356|),UPSTREAM(MODIFIER||||355|CYP2E1|protein_coding|CODING|ENST00000421586|),UPSTREAM(MODIFIER||||493|CYP2E1|protein_coding|CODING|ENST00000252945|),UPSTREAM(MODIFIER||||85|CYP2E1|protein_coding|CODING|ENST00000541261|),UPSTREAM(MODIFIER|||||CYP2E1|processed_transcript|CODING|ENST00000477500|),UPSTREAM(MODIFIER|||||CYP2E1|processed_transcript|CODING|ENST00000480558|) GT:AD:DP:GQ:PL 0/1:1,37:39:87.16:940,87,0 0/1:0,29:29:78.20:899,78,0 0/1:0,24:24:66.14:729,66,0 0/1:1,37:39:87.16:940,87,0 0/1:0,29:29:78.20:899,78,0 0/1:0,24:24:66.14:729,66,0 0/1:1,37:39:87.16:940,87,0 0/1:0,29:29:78.20:899,78,0 0/1:0,24:24:66.14:729,66,0
+chr10 135369532 . T C 122.62 . AC=2;AF=0.25;AN=8;BaseQRankSum=2.118;DP=239;Dels=0.00;FS=5.194;HRun=2;HaplotypeScore=5.7141;MQ=36.02;MQ0=0;MQRankSum=0.082;QD=2.31;ReadPosRankSum=-0.695;CSQ=missense_variant|aAg/aGg|K/R|ENSG00000171772|SYCE1|ENST00000303903|9/13|benign(0.001)|tolerated(1),missense_variant|aAg/aGg|K/R|ENSG00000171772|SYCE1|ENST00000432597|10/14|benign(0)|tolerated(1),downstream_gene_variant|||ENSG00000171772|SYCE1|ENST00000460441|||,missense_variant|aAg/aGg|K/R|ENSG00000171772|SYCE1|ENST00000343131|9/13|benign(0.001)|tolerated(1),intron_variant|||ENSG00000203772|SPRN|ENST00000541506|||,non_coding_exon_variant&nc_transcript_variant|||ENSG00000171772|SYCE1|ENST00000479535|6/10||,downstream_gene_variant|||ENSG00000171772|SYCE1|ENST00000482127|||,non_coding_exon_variant&nc_transcript_variant|||ENSG00000130649|CYP2E1|ENST00000368520|6/6||,missense_variant|aAg/aGg|K/R|ENSG00000171772|SYCE1|ENST00000368517|9/13|benign(0)|tolerated(1);EFF=DOWNSTREAM(MODIFIER|||||SYCE1|processed_transcript|CODING|ENST00000460441|),DOWNSTREAM(MODIFIER|||||SYCE1|processed_transcript|CODING|ENST00000482127|),EXON(MODIFIER|||||CYP2E1|retained_intron|CODING|ENST00000368520|),EXON(MODIFIER|||||SYCE1|processed_transcript|CODING|ENST00000479535|),INTRON(MODIFIER||||151|SPRN|protein_coding|CODING|ENST00000541506|),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAg/aGg|K147R|282|SYCE1|protein_coding|CODING|ENST00000368517|exon_10_135369485_135369551),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAg/aGg|K147R|282|SYCE1|protein_coding|CODING|ENST00000432597|exon_10_135369485_135369551),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAg/aGg|K183R|318|SYCE1|protein_coding|CODING|ENST00000303903|exon_10_135369485_135369551),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAg/aGg|K183R|351|SYCE1|protein_coding|CODING|ENST00000343131|exon_10_135369485_135369551) GT:AD:DP:GQ:PL 0/1:1,37:39:87.16:940,87,0 0/1:0,29:29:78.20:899,78,0 0/1:0,24:24:66.14:729,66,0 0/1:1,37:39:87.16:940,87,0 0/1:0,29:29:78.20:899,78,0 0/1:0,24:24:66.14:729,66,0 0/1:1,37:39:87.16:940,87,0 0/1:0,29:29:78.20:899,78,0 1/1:0,24:24:66.14:729,66,0
\ No newline at end of file
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_amend_input.db
Binary file test-data/gemini_amend_input.db has changed
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_amend_input.ped
--- a/test-data/gemini_amend_input.ped Sat Dec 08 10:26:24 2018 -0500
+++ /dev/null Thu Jan 01 00:00:00 1970 +0000
@@ -1,5 +0,0 @@
-#family_id name paternal_id maternal_id sex phenotype ethnicity hair_color
-1 M10475 None None 1 1 None brown
-1 M10478 M10475 M10500 2 2 None red
-1 M10500 None None 2 2 None
-1 M128215 M10475 M10500 1 1 None green
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_amend_result.db
Binary file test-data/gemini_amend_result.db has changed
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_annotate_input.db
Binary file test-data/gemini_annotate_input.db has changed
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_annotate_result.db
Binary file test-data/gemini_annotate_result.db has changed
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_annotate_result.tabular
--- a/test-data/gemini_annotate_result.tabular Sat Dec 08 10:26:24 2018 -0500
+++ /dev/null Thu Jan 01 00:00:00 1970 +0000
@@ -1,1 +0,0 @@
-updated 10 variants
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_auto_dom_input.db
Binary file test-data/gemini_auto_dom_input.db has changed
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_auto_rec_input.db
Binary file test-data/gemini_auto_rec_input.db has changed
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_autosomal_dominant_result.tabular
--- a/test-data/gemini_autosomal_dominant_result.tabular Sat Dec 08 10:26:24 2018 -0500
+++ /dev/null Thu Jan 01 00:00:00 1970 +0000
@@ -1,9 +0,0 @@
-gene chrom impact variant_id family_id family_members family_genotypes samples family_count
-ASAH2C chr10 missense_variant 3 3 3_dad(3_dad;affected),3_mom(3_mom;unknown),3_kid(3_kid;affected) C/T,C/C,C/T 3_dad,3_kid 2
-ASAH2C chr10 missense_variant 3 2 2_dad(2_dad;unaffected),2_mom(2_mom;affected),2_kid(2_kid;affected) C/C,C/T,C/T 2_mom,2_kid 2
-ASAH2C chr10 missense_variant 4 3 3_dad(3_dad;affected),3_mom(3_mom;unknown),3_kid(3_kid;affected) C/T,C/C,C/T 3_dad,3_kid 2
-ASAH2C chr10 missense_variant 4 2 2_dad(2_dad;unaffected),2_mom(2_mom;affected),2_kid(2_kid;affected) C/C,C/T,C/T 2_mom,2_kid 2
-SPRN chr10 intron_variant 5 3 3_dad(3_dad;affected),3_mom(3_mom;unknown),3_kid(3_kid;affected) G/A,G/G,G/A 3_dad,3_kid 1
-WDR37 chr10 stop_lost 1 3 3_dad(3_dad;affected),3_mom(3_mom;unknown),3_kid(3_kid;affected) T/C,T/T,T/C 3_dad,3_kid 2
-WDR37 chr10 stop_lost 1 2 2_dad(2_dad;unaffected),2_mom(2_mom;affected),2_kid(2_kid;affected) T/T,T/C,T/C 2_mom,2_kid 2
-WDR37 chr10 stop_lost 2 3 3_dad(3_dad;affected),3_mom(3_mom;unknown),3_kid(3_kid;affected) T/C,T/C,T/C 3_dad,3_kid 2
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_autosomal_input.db
Binary file test-data/gemini_autosomal_input.db has changed
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_autosomal_recessive.tabular
--- a/test-data/gemini_autosomal_recessive.tabular Sat Dec 08 10:26:24 2018 -0500
+++ /dev/null Thu Jan 01 00:00:00 1970 +0000
@@ -1,2 +0,0 @@
-gene chrom impact variant_id family_id family_members family_genotypes samples family_count
-WDR37 chr10 stop_lost 2 1 1_dad(1_dad;unaffected),1_mom(1_mom;unaffected),1_kid(1_kid;affected) T/C,T/C,C/C 1_kid 1
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_burden_calpha_template.tabular
--- /dev/null Thu Jan 01 00:00:00 1970 +0000
+++ b/test-data/gemini_burden_calpha_template.tabular Fri Dec 14 12:34:23 2018 -0500
@@ -0,0 +1,4 @@
+gene T c Z p_value
+SYCE1 .+ .+ .+ .+
+WDR37 .+ .+ .+ .+
+ASAH2C .+ .+ .+ .+
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_burden_count_highimpact_result.tabular
--- /dev/null Thu Jan 01 00:00:00 1970 +0000
+++ b/test-data/gemini_burden_count_highimpact_result.tabular Fri Dec 14 12:34:23 2018 -0500
@@ -0,0 +1,2 @@
+gene 1_kid 3_kid
+WDR37 1 2
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_burden_count_nonsynonymous_result.tabular
--- /dev/null Thu Jan 01 00:00:00 1970 +0000
+++ b/test-data/gemini_burden_count_nonsynonymous_result.tabular Fri Dec 14 12:34:23 2018 -0500
@@ -0,0 +1,5 @@
+gene 1_dad 1_kid 1_mom 2_dad 2_kid 2_mom 3_dad 3_kid 3_mom
+SYCE1 0 1 0 0 1 0 0 1 0
+SPRN 0 1 0 0 1 0 1 1 1
+WDR37 0 1 0 0 0 0 0 2 0
+ASAH2C 2 3 2 1 3 1 1 2 1
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_burden_input.db
Binary file test-data/gemini_burden_input.db has changed
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_burden_result.tabular
--- a/test-data/gemini_burden_result.tabular Sat Dec 08 10:26:24 2018 -0500
+++ /dev/null Thu Jan 01 00:00:00 1970 +0000
@@ -1,6 +0,0 @@
-gene T c Z p_value
-SYCE1 -0.5 0.25 -1.0 0.00699300699301
-DHODH 0.0 0.0 nan nan
-WDR37 -1.0 1.5 -0.816496580928 0.00699300699301
-ASAH2C -0.5 0.75 -0.57735026919 0.00699300699301
-CTBP2 0.0 0.0 nan nan
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_comphets_input.db
Binary file test-data/gemini_comphets_input.db has changed
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_comphets_result.tabular
--- a/test-data/gemini_comphets_result.tabular Sat Dec 08 10:26:24 2018 -0500
+++ /dev/null Thu Jan 01 00:00:00 1970 +0000
@@ -1,3 +0,0 @@
-chrom start end ref alt gene impact variant_id family_id family_members family_genotypes samples family_count comp_het_id priority
-chr1 17362 17366 TTCT T WASH7P splice_acceptor_variant 3 4 child_4(child_4;affected;male),dad_4(dad_4;unaffected;male),mom_4(mom_4;unaffected;female) TTCT|T,TTCT/T,TTCT/TTCT child_4 1 1_3_7 3
-chr1 17729 17730 C A WASH7P splice_acceptor_variant 7 4 child_4(child_4;affected;male),dad_4(dad_4;unaffected;male),mom_4(mom_4;unaffected;female) C/A,C/A,C/A child_4 1 1_3_7 3
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_dbinfo_result.tabular
--- a/test-data/gemini_dbinfo_result.tabular Sat Dec 08 10:26:24 2018 -0500
+++ /dev/null Thu Jan 01 00:00:00 1970 +0000
@@ -1,209 +0,0 @@
-table_name column_name type
-variants chrom text
-variants start integer
-variants end integer
-variants vcf_id text
-variants variant_id integer
-variants anno_id integer
-variants ref text
-variants alt text
-variants qual float
-variants filter text
-variants type text
-variants sub_type text
-variants gts blob
-variants gt_types blob
-variants gt_phases blob
-variants gt_depths blob
-variants gt_ref_depths blob
-variants gt_alt_depths blob
-variants gt_quals blob
-variants gt_copy_numbers blob
-variants gt_phred_ll_homref blob
-variants gt_phred_ll_het blob
-variants gt_phred_ll_homalt blob
-variants call_rate float
-variants in_dbsnp bool
-variants rs_ids text
-variants sv_cipos_start_left integer
-variants sv_cipos_end_left integer
-variants sv_cipos_start_right integer
-variants sv_cipos_end_right integer
-variants sv_length integer
-variants sv_is_precise bool
-variants sv_tool text
-variants sv_evidence_type text
-variants sv_event_id text
-variants sv_mate_id text
-variants sv_strand text
-variants in_omim bool
-variants clinvar_sig text
-variants clinvar_disease_name text
-variants clinvar_dbsource text
-variants clinvar_dbsource_id text
-variants clinvar_origin text
-variants clinvar_dsdb text
-variants clinvar_dsdbid text
-variants clinvar_disease_acc text
-variants clinvar_in_locus_spec_db bool
-variants clinvar_on_diag_assay bool
-variants clinvar_causal_allele text
-variants pfam_domain text
-variants cyto_band text
-variants rmsk text
-variants in_cpg_island bool
-variants in_segdup bool
-variants is_conserved bool
-variants gerp_bp_score float
-variants gerp_element_pval float
-variants num_hom_ref integer
-variants num_het integer
-variants num_hom_alt integer
-variants num_unknown integer
-variants aaf real
-variants hwe decimal(2,7)
-variants inbreeding_coeff decimal(2,7)
-variants pi decimal(2,7)
-variants recomb_rate decimal(2,7)
-variants gene text
-variants transcript text
-variants is_exonic bool
-variants is_coding bool
-variants is_splicing bool
-variants is_lof bool
-variants exon text
-variants codon_change text
-variants aa_change text
-variants aa_length text
-variants biotype text
-variants impact text
-variants impact_so text
-variants impact_severity text
-variants polyphen_pred text
-variants polyphen_score float
-variants sift_pred text
-variants sift_score float
-variants anc_allele text
-variants rms_bq float
-variants cigar text
-variants depth integer
-variants strand_bias float
-variants rms_map_qual float
-variants in_hom_run integer
-variants num_mapq_zero integer
-variants num_alleles integer
-variants num_reads_w_dels float
-variants haplotype_score float
-variants qual_depth float
-variants allele_count integer
-variants allele_bal float
-variants in_hm2 bool
-variants in_hm3 bool
-variants is_somatic bool
-variants somatic_score float
-variants in_esp bool
-variants aaf_esp_ea decimal(2,7)
-variants aaf_esp_aa decimal(2,7)
-variants aaf_esp_all decimal(2,7)
-variants exome_chip bool
-variants in_1kg bool
-variants aaf_1kg_amr decimal(2,7)
-variants aaf_1kg_eas decimal(2,7)
-variants aaf_1kg_sas decimal(2,7)
-variants aaf_1kg_afr decimal(2,7)
-variants aaf_1kg_eur decimal(2,7)
-variants aaf_1kg_all decimal(2,7)
-variants grc text
-variants gms_illumina float
-variants gms_solid float
-variants gms_iontorrent float
-variants in_cse bool
-variants encode_tfbs text
-variants encode_dnaseI_cell_count integer
-variants encode_dnaseI_cell_list text
-variants encode_consensus_gm12878 text
-variants encode_consensus_h1hesc text
-variants encode_consensus_helas3 text
-variants encode_consensus_hepg2 text
-variants encode_consensus_huvec text
-variants encode_consensus_k562 text
-variants vista_enhancers text
-variants cosmic_ids text
-variants info blob
-variants cadd_raw float
-variants cadd_scaled float
-variants fitcons float
-variants in_exac bool
-variants aaf_exac_all decimal(2,7)
-variants aaf_adj_exac_all decimal(2,7)
-variants aaf_adj_exac_afr decimal(2,7)
-variants aaf_adj_exac_amr decimal(2,7)
-variants aaf_adj_exac_eas decimal(2,7)
-variants aaf_adj_exac_fin decimal(2,7)
-variants aaf_adj_exac_nfe decimal(2,7)
-variants aaf_adj_exac_oth decimal(2,7)
-variants aaf_adj_exac_sas decimal(2,7)
-variants exac_num_het int
-variants exac_num_hom_alt int
-variants exac_num_chroms int
-variants max_aaf_all REAL
-variant_impacts variant_id integer
-variant_impacts anno_id integer
-variant_impacts gene text
-variant_impacts transcript text
-variant_impacts is_exonic bool
-variant_impacts is_coding bool
-variant_impacts is_splicing bool
-variant_impacts is_lof bool
-variant_impacts exon text
-variant_impacts codon_change text
-variant_impacts aa_change text
-variant_impacts aa_length text
-variant_impacts biotype text
-variant_impacts impact text
-variant_impacts impact_so text
-variant_impacts impact_severity text
-variant_impacts polyphen_pred text
-variant_impacts polyphen_score float
-variant_impacts sift_pred text
-variant_impacts sift_score float
-samples sample_id integer
-samples family_id text
-samples name text
-samples paternal_id text
-samples maternal_id text
-samples sex text
-samples phenotype text
-samples ethnicity text
-gene_detailed uid integer
-gene_detailed chrom text
-gene_detailed gene text
-gene_detailed is_hgnc bool
-gene_detailed ensembl_gene_id text
-gene_detailed transcript text
-gene_detailed biotype text
-gene_detailed transcript_status text
-gene_detailed ccds_id text
-gene_detailed hgnc_id text
-gene_detailed entrez_id text
-gene_detailed cds_length text
-gene_detailed protein_length text
-gene_detailed transcript_start text
-gene_detailed transcript_end text
-gene_detailed strand text
-gene_detailed synonym text
-gene_detailed rvis_pct float
-gene_detailed mam_phenotype_id text
-gene_summary uid integer
-gene_summary chrom text
-gene_summary gene text
-gene_summary is_hgnc bool
-gene_summary ensembl_gene_id text
-gene_summary hgnc_id text
-gene_summary transcript_min_start text
-gene_summary transcript_max_end text
-gene_summary strand text
-gene_summary synonym text
-gene_summary rvis_pct float
-gene_summary mam_phenotype_id text
-gene_summary in_cosmic_census bool
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_de_novo_input.db
Binary file test-data/gemini_de_novo_input.db has changed
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_de_novo_result.tabular
--- a/test-data/gemini_de_novo_result.tabular Sat Dec 08 10:26:24 2018 -0500
+++ /dev/null Thu Jan 01 00:00:00 1970 +0000
@@ -1,9 +0,0 @@
-chrom start end vcf_id variant_id anno_id ref alt qual filter type sub_type call_rate in_dbsnp rs_ids sv_cipos_start_left sv_cipos_end_left sv_cipos_start_right sv_cipos_end_right sv_length sv_is_precise sv_tool sv_evidence_type sv_event_id sv_mate_id sv_strand in_omim clinvar_sig clinvar_disease_name clinvar_dbsource clinvar_dbsource_id clinvar_origin clinvar_dsdb clinvar_dsdbid clinvar_disease_acc clinvar_in_locus_spec_db clinvar_on_diag_assay clinvar_causal_allele pfam_domain cyto_band rmsk in_cpg_island in_segdup is_conserved gerp_bp_score gerp_element_pval num_hom_ref num_het num_hom_alt num_unknown aaf hwe inbreeding_coeff pi recomb_rate gene transcript is_exonic is_coding is_splicing is_lof exon codon_change aa_change aa_length biotype impact impact_so impact_severity polyphen_pred polyphen_score sift_pred sift_score anc_allele rms_bq cigar depth strand_bias rms_map_qual in_hom_run num_mapq_zero num_alleles num_reads_w_dels haplotype_score qual_depth allele_count allele_bal in_hm2 in_hm3 is_somatic somatic_score in_esp aaf_esp_ea aaf_esp_aa aaf_esp_all exome_chip in_1kg aaf_1kg_amr aaf_1kg_eas aaf_1kg_sas aaf_1kg_afr aaf_1kg_eur aaf_1kg_all grc gms_illumina gms_solid gms_iontorrent in_cse encode_tfbs encode_dnaseI_cell_count encode_dnaseI_cell_list encode_consensus_gm12878 encode_consensus_h1hesc encode_consensus_helas3 encode_consensus_hepg2 encode_consensus_huvec encode_consensus_k562 vista_enhancers cosmic_ids info cadd_raw cadd_scaled fitcons in_exac aaf_exac_all aaf_adj_exac_all aaf_adj_exac_afr aaf_adj_exac_amr aaf_adj_exac_eas aaf_adj_exac_fin aaf_adj_exac_nfe aaf_adj_exac_oth aaf_adj_exac_sas exac_num_het exac_num_hom_alt exac_num_chroms max_aaf_all gts gt_types gt_phases gt_depths gt_ref_depths gt_alt_depths gt_quals gt_copy_numbers gt_phred_ll_homref gt_phred_ll_het gt_phred_ll_homalt family_id family_members family_genotypes samples family_count
-chr10 48003991 48003992 None 2 1 C T 1047.86999512 None snp ts 1.0 1 rs142685947,rs3739968 None None None None None 1 None None None None None None None None None None None None None None None None None None chr10q11.22 None 0 1 1 None 3.10871e-42 2 6 1 0 0.444444444444 0.29371811258 -0.35 0.522875816993 1.718591 ASAH2C ENST00000420079 1 1 0 0 exon_10_48003968_48004056 tGt/tAt C540Y 610 protein_coding missense_variant missense_variant MED None None None None None None None 165 None 20.9400005341 0 0 8 0.0 4.382999897 9.52999973297 4 None None None None None 0 None None None 0 1 0.3112 0.4573 0.3855 0.1241 0.5149 0.346645 grc_fix 73.3 40.3 92.8 0 None None None R R R R R R None None None None None 0.553676 1 0.443 0.448537771896 0.288974151858 0.281426746944 0.543088975937 0.524984286612 0.478147713207 0.463529411765 0.418641164716 17495 15317 107302 0.543088975937 ['C/T' 'C/T' 'T/T' 'C/C' 'C/C' 'C/T' 'C/T' 'C/T' 'C/T'] [1 1 3 0 0 1 1 1 1] [False False False False False False False False False] [38 29 23 38 29 23 38 29 23] [1 0 0 1 0 0 1 0 0] [37 29 23 37 29 23 37 29 23] [ 87.16000366 78.19999695 66.13999939 87.16000366 78.19999695 66.13999939 87.16000366 78.19999695 66.13999939] None [940 899 729 940 899 729 940 899 729] [87 78 66 87 78 66 87 78 66] [0 0 0 0 0 0 0 0 0] 2 2_dad(2_dad;unaffected),2_mom(2_mom;unaffected),2_kid(2_kid;affected) C/C,C/C,C/T 2_kid 2
-chr10 48004991 48004992 None 3 1 C T 1047.86999512 None snp ts 1.0 0 None None None None None None 1 None None None None None None None None None None None None None None None None None None chr10q11.22 None 0 1 0 None None 2 6 1 0 0.444444444444 0.29371811258 -0.35 0.522875816993 1.718591 ASAH2C ENST00000420079 1 1 0 0 exon_10_48003968_48004056 tGt/tAt C540Y 610 protein_coding missense_variant missense_variant MED None None None None None None None 165 None 20.9400005341 0 0 8 0.0 4.382999897 9.52999973297 4 None None None None None 0 None None None 0 0 None None None None None None grc_fix None None None 0 None None None R R R R R R None None None None None 0.061011 0 None None None None None None None None None None None None -1.0 ['C/T' 'C/T' 'C/T' 'C/T' 'C/T' 'T/T' 'C/C' 'C/C' 'C/T'] [1 1 1 1 1 3 0 0 1] [False False False False False False False False False] [38 29 23 38 29 23 38 29 23] [1 0 0 1 0 0 1 0 0] [37 29 23 37 29 23 37 29 23] [ 87.16000366 78.19999695 66.13999939 87.16000366 78.19999695 66.13999939 87.16000366 78.19999695 66.13999939] None [940 899 729 940 899 729 940 899 729] [87 78 66 87 78 66 87 78 66] [0 0 0 0 0 0 0 0 0] 3 3_dad(3_dad;unaffected),3_mom(3_mom;unaffected),3_kid(3_kid;affected) C/C,C/C,C/T 3_kid 2
-chr10 135336655 135336656 None 4 1 G A 38.3400001526 None snp ts 1.0 1 rs6537611 None None None None None 1 None None None None None None None None None None None None None None None None None None chr10q26.3 None 0 0 0 None None 4 5 0 0 0.277777777778 0.248563248239 -0.384615384615 0.424836601307 0.43264 SPRN ENST00000541506 0 0 0 0 151 protein_coding intron_variant intron_variant LOW None None None None None None None 2 None 37.0 4 0 4 0.0 0.0 19.1700000763 4 None None None None None 0 None None None 0 1 0.9957 1 1 0.9297 1 0.980831 None None None None 0 None None None R R R R unknown R None None None None None 0.056701 0 None None None None None None None None None None None None 1.0 ['G/G' 'G/G' 'G/A' 'G/G' 'G/G' 'G/A' 'G/A' 'G/A' 'G/A'] [0 0 1 0 0 1 1 1 1] [False False False False False False False False False] [38 29 24 38 29 24 38 29 24] [1 0 0 1 0 0 1 0 0] [37 29 24 37 29 24 37 29 24] [ 87.16000366 78.19999695 66.13999939 87.16000366 78.19999695 66.13999939 87.16000366 78.19999695 66.13999939] None [940 899 729 940 899 729 940 899 729] [87 78 66 87 78 66 87 78 66] [0 0 0 0 0 0 0 0 0] 1 1_dad(1_dad;unaffected),1_mom(1_mom;unaffected),1_kid(1_kid;affected) G/G,G/G,G/A 1_kid 2
-chr10 135336655 135336656 None 4 1 G A 38.3400001526 None snp ts 1.0 1 rs6537611 None None None None None 1 None None None None None None None None None None None None None None None None None None chr10q26.3 None 0 0 0 None None 4 5 0 0 0.277777777778 0.248563248239 -0.384615384615 0.424836601307 0.43264 SPRN ENST00000541506 0 0 0 0 151 protein_coding intron_variant intron_variant LOW None None None None None None None 2 None 37.0 4 0 4 0.0 0.0 19.1700000763 4 None None None None None 0 None None None 0 1 0.9957 1 1 0.9297 1 0.980831 None None None None 0 None None None R R R R unknown R None None None None None 0.056701 0 None None None None None None None None None None None None 1.0 ['G/G' 'G/G' 'G/A' 'G/G' 'G/G' 'G/A' 'G/A' 'G/A' 'G/A'] [0 0 1 0 0 1 1 1 1] [False False False False False False False False False] [38 29 24 38 29 24 38 29 24] [1 0 0 1 0 0 1 0 0] [37 29 24 37 29 24 37 29 24] [ 87.16000366 78.19999695 66.13999939 87.16000366 78.19999695 66.13999939 87.16000366 78.19999695 66.13999939] None [940 899 729 940 899 729 940 899 729] [87 78 66 87 78 66 87 78 66] [0 0 0 0 0 0 0 0 0] 2 2_dad(2_dad;unaffected),2_mom(2_mom;unaffected),2_kid(2_kid;affected) G/G,G/G,G/A 2_kid 2
-chr10 135369531 135369532 None 5 6 T C 122.620002747 None snp ts 1.0 1 rs3747881,rs386585367 None None None None None 1 None None None None None None None None None None None None None None None None None None chr10q26.3 None 0 0 1 None 3.86096e-59 6 3 0 0 0.166666666667 0.548506235587 -0.2 0.294117647059 0.022013 SYCE1 ENST00000368517 1 1 0 0 exon_10_135369485_135369551 aAg/aGg K147R 282 protein_coding missense_variant missense_variant MED None None None None None None None 239 None 36.0200004578 2 0 8 0.0 5.71409988403 2.30999994278 2 None None None None None 1 0.0938372093023 0.163867453473 0.117561125634 1 1 0.1844 0.2698 0.2188 0.1997 0.1093 0.197284 None None None None 0 None None None R R R R R R None None None None None 0.487112 1 0.134 0.134286610119 0.184985563041 0.164938655607 0.256026889198 0.122313048744 0.0919761054243 0.113686534216 0.194096927001 13825 1225 121196 0.2698 ['T/T' 'T/T' 'T/C' 'T/T' 'T/T' 'T/C' 'T/T' 'T/T' 'T/C'] [0 0 1 0 0 1 0 0 1] [False False False False False False False False False] [38 29 22 38 29 21 38 29 24] [1 0 0 1 0 0 1 0 0] [37 29 22 37 29 21 37 29 24] [ 87.16000366 78.19999695 66.13999939 87.16000366 78.19999695 66.13999939 87.16000366 78.19999695 66.13999939] None [940 899 729 940 899 729 940 899 729] [87 78 66 87 78 66 87 78 66] [0 0 0 0 0 0 0 0 0] 1 1_dad(1_dad;unaffected),1_mom(1_mom;unaffected),1_kid(1_kid;affected) T/T,T/T,T/C 1_kid 3
-chr10 135369531 135369532 None 5 6 T C 122.620002747 None snp ts 1.0 1 rs3747881,rs386585367 None None None None None 1 None None None None None None None None None None None None None None None None None None chr10q26.3 None 0 0 1 None 3.86096e-59 6 3 0 0 0.166666666667 0.548506235587 -0.2 0.294117647059 0.022013 SYCE1 ENST00000368517 1 1 0 0 exon_10_135369485_135369551 aAg/aGg K147R 282 protein_coding missense_variant missense_variant MED None None None None None None None 239 None 36.0200004578 2 0 8 0.0 5.71409988403 2.30999994278 2 None None None None None 1 0.0938372093023 0.163867453473 0.117561125634 1 1 0.1844 0.2698 0.2188 0.1997 0.1093 0.197284 None None None None 0 None None None R R R R R R None None None None None 0.487112 1 0.134 0.134286610119 0.184985563041 0.164938655607 0.256026889198 0.122313048744 0.0919761054243 0.113686534216 0.194096927001 13825 1225 121196 0.2698 ['T/T' 'T/T' 'T/C' 'T/T' 'T/T' 'T/C' 'T/T' 'T/T' 'T/C'] [0 0 1 0 0 1 0 0 1] [False False False False False False False False False] [38 29 22 38 29 21 38 29 24] [1 0 0 1 0 0 1 0 0] [37 29 22 37 29 21 37 29 24] [ 87.16000366 78.19999695 66.13999939 87.16000366 78.19999695 66.13999939 87.16000366 78.19999695 66.13999939] None [940 899 729 940 899 729 940 899 729] [87 78 66 87 78 66 87 78 66] [0 0 0 0 0 0 0 0 0] 3 3_dad(3_dad;unaffected),3_mom(3_mom;unaffected),3_kid(3_kid;affected) T/T,T/T,T/C 3_kid 3
-chr10 135369531 135369532 None 5 6 T C 122.620002747 None snp ts 1.0 1 rs3747881,rs386585367 None None None None None 1 None None None None None None None None None None None None None None None None None None chr10q26.3 None 0 0 1 None 3.86096e-59 6 3 0 0 0.166666666667 0.548506235587 -0.2 0.294117647059 0.022013 SYCE1 ENST00000368517 1 1 0 0 exon_10_135369485_135369551 aAg/aGg K147R 282 protein_coding missense_variant missense_variant MED None None None None None None None 239 None 36.0200004578 2 0 8 0.0 5.71409988403 2.30999994278 2 None None None None None 1 0.0938372093023 0.163867453473 0.117561125634 1 1 0.1844 0.2698 0.2188 0.1997 0.1093 0.197284 None None None None 0 None None None R R R R R R None None None None None 0.487112 1 0.134 0.134286610119 0.184985563041 0.164938655607 0.256026889198 0.122313048744 0.0919761054243 0.113686534216 0.194096927001 13825 1225 121196 0.2698 ['T/T' 'T/T' 'T/C' 'T/T' 'T/T' 'T/C' 'T/T' 'T/T' 'T/C'] [0 0 1 0 0 1 0 0 1] [False False False False False False False False False] [38 29 22 38 29 21 38 29 24] [1 0 0 1 0 0 1 0 0] [37 29 22 37 29 21 37 29 24] [ 87.16000366 78.19999695 66.13999939 87.16000366 78.19999695 66.13999939 87.16000366 78.19999695 66.13999939] None [940 899 729 940 899 729 940 899 729] [87 78 66 87 78 66 87 78 66] [0 0 0 0 0 0 0 0 0] 2 2_dad(2_dad;unaffected),2_mom(2_mom;unaffected),2_kid(2_kid;affected) T/T,T/T,T/C 2_kid 3
-chr10 1142207 1142208 None 1 4 T C 3404.30004883 None snp ts 1.0 1 rs10794716 None None None None None 1 None None None None None None None None None None None None None None None None None None chr10p15.3 None 0 0 0 None None 7 1 1 0 0.166666666667 0.0718606383197 0.6 0.294117647059 0.200924 WDR37 ENST00000381329 1 1 0 1 exon_10_1142110_1142566 Tga/Cga *250R 249 protein_coding stop_lost stop_lost HIGH None None None None None None None 122 None 36.0 0 0 8 0.0 2.67470002174 27.8999996185 8 None None None None None 1 0.999534883721 0.975034044485 0.991234814701 0 1 0.9942 1 1 0.9561 1 0.98762 None None None None 0 None 2 Osteobl;Progfib T T T T T T None None None None None 0.156188 1 0.997 0.997067786838 0.970305592927 0.998358956642 1 1 0.999595432887 0.998898678414 1 346 60354 121410 1.0 ['T/T' 'T/T' 'T/C' 'T/T' 'T/T' 'T/T' 'T/T' 'T/T' 'C/C'] [0 0 1 0 0 0 0 0 3] [False False False False False False False False False] [38 29 23 38 29 22 38 29 24] [1 0 0 1 0 0 1 0 0] [37 29 23 37 29 22 37 29 24] [ 87.16000366 78.19999695 66.13999939 87.16000366 78.19999695 66.13999939 87.16000366 78.19999695 66.13999939] None [940 899 729 940 899 729 940 899 729] [87 78 66 87 78 66 87 78 66] [0 0 0 0 0 0 0 0 0] 1 1_dad(1_dad;unaffected),1_mom(1_mom;unaffected),1_kid(1_kid;affected) T/T,T/T,T/C 1_kid 1
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_dump_result.tabular
--- a/test-data/gemini_dump_result.tabular Sat Dec 08 10:26:24 2018 -0500
+++ /dev/null Thu Jan 01 00:00:00 1970 +0000
@@ -1,97 +0,0 @@
-chrom start end ref alt type sub_type aaf in_dbsnp gene sample genotype
-chr1 16976 16977 G A snp ts 0.375 0 DDX11L1 child_1 G/A
-chr1 16976 16977 G A snp ts 0.375 0 DDX11L1 child_2 G/G
-chr1 16976 16977 G A snp ts 0.375 0 DDX11L1 dad_2 G/A
-chr1 16976 16977 G A snp ts 0.375 0 DDX11L1 mom_2 G/G
-chr1 16976 16977 G A snp ts 0.375 0 DDX11L1 dad_1 G/G
-chr1 16976 16977 G A snp ts 0.375 0 DDX11L1 mom_1 G/A
-chr1 16976 16977 G A snp ts 0.375 0 DDX11L1 child_3 G/A
-chr1 16976 16977 G A snp ts 0.375 0 DDX11L1 dad_3 G/A
-chr1 16976 16977 G A snp ts 0.375 0 DDX11L1 mom_3 G/A
-chr1 16976 16977 G A snp ts 0.375 0 DDX11L1 child_4 G/A
-chr1 16976 16977 G A snp ts 0.375 0 DDX11L1 dad_4 G/A
-chr1 16976 16977 G A snp ts 0.375 0 DDX11L1 mom_4 G/A
-chr1 17221 17222 A G snp ts 0.166666666667 1 DDX11L1 child_1 A/A
-chr1 17221 17222 A G snp ts 0.166666666667 1 DDX11L1 child_2 A/G
-chr1 17221 17222 A G snp ts 0.166666666667 1 DDX11L1 dad_2 A/A
-chr1 17221 17222 A G snp ts 0.166666666667 1 DDX11L1 mom_2 A/G
-chr1 17221 17222 A G snp ts 0.166666666667 1 DDX11L1 dad_1 A/A
-chr1 17221 17222 A G snp ts 0.166666666667 1 DDX11L1 mom_1 A/A
-chr1 17221 17222 A G snp ts 0.166666666667 1 DDX11L1 child_3 A/A
-chr1 17221 17222 A G snp ts 0.166666666667 1 DDX11L1 dad_3 A/A
-chr1 17221 17222 A G snp ts 0.166666666667 1 DDX11L1 mom_3 A/G
-chr1 17221 17222 A G snp ts 0.166666666667 1 DDX11L1 child_4 A/G
-chr1 17221 17222 A G snp ts 0.166666666667 1 DDX11L1 dad_4 A/A
-chr1 17221 17222 A G snp ts 0.166666666667 1 DDX11L1 mom_4 A/A
-chr1 17362 17366 TTCT T indel del 0.0833333333333 0 WASH7P child_1 TTCT/TTCT
-chr1 17362 17366 TTCT T indel del 0.0833333333333 0 WASH7P child_2 TTCT/TTCT
-chr1 17362 17366 TTCT T indel del 0.0833333333333 0 WASH7P dad_2 TTCT/TTCT
-chr1 17362 17366 TTCT T indel del 0.0833333333333 0 WASH7P mom_2 TTCT/TTCT
-chr1 17362 17366 TTCT T indel del 0.0833333333333 0 WASH7P dad_1 TTCT/TTCT
-chr1 17362 17366 TTCT T indel del 0.0833333333333 0 WASH7P mom_1 TTCT/TTCT
-chr1 17362 17366 TTCT T indel del 0.0833333333333 0 WASH7P child_3 TTCT/TTCT
-chr1 17362 17366 TTCT T indel del 0.0833333333333 0 WASH7P dad_3 TTCT/TTCT
-chr1 17362 17366 TTCT T indel del 0.0833333333333 0 WASH7P mom_3 TTCT/TTCT
-chr1 17362 17366 TTCT T indel del 0.0833333333333 0 WASH7P child_4 TTCT/T
-chr1 17362 17366 TTCT T indel del 0.0833333333333 0 WASH7P dad_4 TTCT/T
-chr1 17362 17366 TTCT T indel del 0.0833333333333 0 WASH7P mom_4 TTCT/TTCT
-chr1 17562 17563 G A snp ts 0.0416666666667 0 DDX11L1 child_1 G/G
-chr1 17562 17563 G A snp ts 0.0416666666667 0 DDX11L1 child_2 G/G
-chr1 17562 17563 G A snp ts 0.0416666666667 0 DDX11L1 dad_2 G/G
-chr1 17562 17563 G A snp ts 0.0416666666667 0 DDX11L1 mom_2 G/G
-chr1 17562 17563 G A snp ts 0.0416666666667 0 DDX11L1 dad_1 G/G
-chr1 17562 17563 G A snp ts 0.0416666666667 0 DDX11L1 mom_1 G/G
-chr1 17562 17563 G A snp ts 0.0416666666667 0 DDX11L1 child_3 G/A
-chr1 17562 17563 G A snp ts 0.0416666666667 0 DDX11L1 dad_3 G/G
-chr1 17562 17563 G A snp ts 0.0416666666667 0 DDX11L1 mom_3 G/G
-chr1 17562 17563 G A snp ts 0.0416666666667 0 DDX11L1 child_4 G/G
-chr1 17562 17563 G A snp ts 0.0416666666667 0 DDX11L1 dad_4 G/G
-chr1 17562 17563 G A snp ts 0.0416666666667 0 DDX11L1 mom_4 G/G
-chr1 17696 17697 G C snp tv 0.166666666667 1 DDX11L1 child_1 G/C
-chr1 17696 17697 G C snp tv 0.166666666667 1 DDX11L1 child_2 G/G
-chr1 17696 17697 G C snp tv 0.166666666667 1 DDX11L1 dad_2 G/G
-chr1 17696 17697 G C snp tv 0.166666666667 1 DDX11L1 mom_2 G/C
-chr1 17696 17697 G C snp tv 0.166666666667 1 DDX11L1 dad_1 G/G
-chr1 17696 17697 G C snp tv 0.166666666667 1 DDX11L1 mom_1 G/G
-chr1 17696 17697 G C snp tv 0.166666666667 1 DDX11L1 child_3 G/G
-chr1 17696 17697 G C snp tv 0.166666666667 1 DDX11L1 dad_3 G/C
-chr1 17696 17697 G C snp tv 0.166666666667 1 DDX11L1 mom_3 G/G
-chr1 17696 17697 G C snp tv 0.166666666667 1 DDX11L1 child_4 G/C
-chr1 17696 17697 G C snp tv 0.166666666667 1 DDX11L1 dad_4 G/G
-chr1 17696 17697 G C snp tv 0.166666666667 1 DDX11L1 mom_4 G/G
-chr1 17721 17722 A G snp ts 0.125 1 DDX11L1 child_1 A/A
-chr1 17721 17722 A G snp ts 0.125 1 DDX11L1 child_2 A/A
-chr1 17721 17722 A G snp ts 0.125 1 DDX11L1 dad_2 A/A
-chr1 17721 17722 A G snp ts 0.125 1 DDX11L1 mom_2 A/A
-chr1 17721 17722 A G snp ts 0.125 1 DDX11L1 dad_1 A/A
-chr1 17721 17722 A G snp ts 0.125 1 DDX11L1 mom_1 A/A
-chr1 17721 17722 A G snp ts 0.125 1 DDX11L1 child_3 A/A
-chr1 17721 17722 A G snp ts 0.125 1 DDX11L1 dad_3 A/A
-chr1 17721 17722 A G snp ts 0.125 1 DDX11L1 mom_3 A/A
-chr1 17721 17722 A G snp ts 0.125 1 DDX11L1 child_4 A/G
-chr1 17721 17722 A G snp ts 0.125 1 DDX11L1 dad_4 A/G
-chr1 17721 17722 A G snp ts 0.125 1 DDX11L1 mom_4 A/G
-chr1 17729 17730 C A snp tv 0.208333333333 0 WASH7P child_1 C/C
-chr1 17729 17730 C A snp tv 0.208333333333 0 WASH7P child_2 C/C
-chr1 17729 17730 C A snp tv 0.208333333333 0 WASH7P dad_2 C/C
-chr1 17729 17730 C A snp tv 0.208333333333 0 WASH7P mom_2 C/C
-chr1 17729 17730 C A snp tv 0.208333333333 0 WASH7P dad_1 C/A
-chr1 17729 17730 C A snp tv 0.208333333333 0 WASH7P mom_1 C/C
-chr1 17729 17730 C A snp tv 0.208333333333 0 WASH7P child_3 C/A
-chr1 17729 17730 C A snp tv 0.208333333333 0 WASH7P dad_3 C/C
-chr1 17729 17730 C A snp tv 0.208333333333 0 WASH7P mom_3 C/C
-chr1 17729 17730 C A snp tv 0.208333333333 0 WASH7P child_4 C/A
-chr1 17729 17730 C A snp tv 0.208333333333 0 WASH7P dad_4 C/A
-chr1 17729 17730 C A snp tv 0.208333333333 0 WASH7P mom_4 C/A
-chr1 17745 17746 A G snp ts 0.333333333333 1 DDX11L1 child_1 A/A
-chr1 17745 17746 A G snp ts 0.333333333333 1 DDX11L1 child_2 A/A
-chr1 17745 17746 A G snp ts 0.333333333333 1 DDX11L1 dad_2 A/A
-chr1 17745 17746 A G snp ts 0.333333333333 1 DDX11L1 mom_2 A/A
-chr1 17745 17746 A G snp ts 0.333333333333 1 DDX11L1 dad_1 A/G
-chr1 17745 17746 A G snp ts 0.333333333333 1 DDX11L1 mom_1 A/G
-chr1 17745 17746 A G snp ts 0.333333333333 1 DDX11L1 child_3 A/G
-chr1 17745 17746 A G snp ts 0.333333333333 1 DDX11L1 dad_3 A/G
-chr1 17745 17746 A G snp ts 0.333333333333 1 DDX11L1 mom_3 A/G
-chr1 17745 17746 A G snp ts 0.333333333333 1 DDX11L1 child_4 A/G
-chr1 17745 17746 A G snp ts 0.333333333333 1 DDX11L1 dad_4 A/G
-chr1 17745 17746 A G snp ts 0.333333333333 1 DDX11L1 mom_4 A/G
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_gene_wise_result.tabular
--- a/test-data/gemini_gene_wise_result.tabular Sat Dec 08 10:26:24 2018 -0500
+++ /dev/null Thu Jan 01 00:00:00 1970 +0000
@@ -1,6 +0,0 @@
-chrom start end gene impact impact_severity max_aaf_all variant_filters n_gene_variants gene_filters
-chr10 48003991 48003992 ASAH2C missense_variant MED 0.543088975937 1 1 1
-chr10 126678091 126678092 CTBP2 stop_gained HIGH 0.0904917363803 1 1 1
-chr10 135369531 135369532 SYCE1 missense_variant MED 0.2698 1 1 1
-chr10 1142207 1142208 WDR37 stop_lost HIGH 1.0 1 1 1
-chr16 72057434 72057435 DHODH missense_variant MED 0.000432002764818 1 1 1
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_interactions_result.tabular
--- a/test-data/gemini_interactions_result.tabular Sat Dec 08 10:26:24 2018 -0500
+++ /dev/null Thu Jan 01 00:00:00 1970 +0000
@@ -1,25 +0,0 @@
-sample gene order_of_interaction interacting_gene
-M10475 CTBP2 0_order: none
-M10475 CTBP2 1_order: none
-M10475 CTBP2 2_order: none
-M10475 CTBP2 3_order: none
-M10475 CTBP2 4_order: WDR37
-M10475 CTBP2 5_order: none
-M128215 CTBP2 0_order: CTBP2
-M128215 CTBP2 1_order: none
-M128215 CTBP2 2_order: none
-M128215 CTBP2 3_order: none
-M128215 CTBP2 4_order: WDR37
-M128215 CTBP2 5_order: none
-M10478 CTBP2 0_order: none
-M10478 CTBP2 1_order: none
-M10478 CTBP2 2_order: none
-M10478 CTBP2 3_order: none
-M10478 CTBP2 4_order: WDR37
-M10478 CTBP2 5_order: MTG1
-M10500 CTBP2 0_order: none
-M10500 CTBP2 1_order: none
-M10500 CTBP2 2_order: none
-M10500 CTBP2 3_order: none
-M10500 CTBP2 4_order: WDR37
-M10500 CTBP2 5_order: MTG1
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_is_somatic_result.db
Binary file test-data/gemini_is_somatic_result.db has changed
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_load_result.db
Binary file test-data/gemini_load_result.db has changed
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_load_result1.db
Binary file test-data/gemini_load_result1.db has changed
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_load_result2.db
Binary file test-data/gemini_load_result2.db has changed
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_lofsieve_result.tabular
--- a/test-data/gemini_lofsieve_result.tabular Sat Dec 08 10:26:24 2018 -0500
+++ /dev/null Thu Jan 01 00:00:00 1970 +0000
@@ -1,11 +0,0 @@
-chrom start end ref alt highest_impact aa_change var_trans_pos trans_aa_length var_trans_pct sample genotype gene transcript trans_type
-chr10 1142207 1142208 T C stop_lost */R 250 250/249 1.00401606426 M10475 C/C WDR37 ENST00000381329 protein_coding
-chr10 1142207 1142208 T C stop_lost */R 250 250/249 1.00401606426 M10478 C/C WDR37 ENST00000381329 protein_coding
-chr10 1142207 1142208 T C stop_lost */R 250 250/249 1.00401606426 M10500 C/C WDR37 ENST00000381329 protein_coding
-chr10 1142207 1142208 T C stop_lost */R 250 250/249 1.00401606426 M128215 C/C WDR37 ENST00000381329 protein_coding
-chr10 126678091 126678092 G A stop_gained Q/* 445 445/445 1.0 M128215 G/A CTBP2 ENST00000531469 protein_coding
-chr10 126678091 126678092 G A stop_gained Q/* 445 445/445 1.0 M128215 G/A CTBP2 ENST00000309035 protein_coding
-chr10 126678091 126678092 G A stop_gained Q/* 445 445/445 1.0 M128215 G/A CTBP2 ENST00000494626 protein_coding
-chr10 126678091 126678092 G A stop_gained Q/* 445 445/445 1.0 M128215 G/A CTBP2 ENST00000337195 protein_coding
-chr10 126678091 126678092 G A stop_gained Q/* 445 445/445 1.0 M128215 G/A CTBP2 ENST00000334808 protein_coding
-chr10 126678091 126678092 G A stop_gained Q/* 445 445/445 1.0 M128215 G/A CTBP2 ENST00000411419 protein_coding
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_mendel_errors_result.tabular
--- a/test-data/gemini_mendel_errors_result.tabular Sat Dec 08 10:26:24 2018 -0500
+++ /dev/null Thu Jan 01 00:00:00 1970 +0000
@@ -1,10 +0,0 @@
-chrom start end vcf_id variant_id anno_id ref alt qual filter type sub_type call_rate in_dbsnp rs_ids sv_cipos_start_left sv_cipos_end_left sv_cipos_start_right sv_cipos_end_right sv_length sv_is_precise sv_tool sv_evidence_type sv_event_id sv_mate_id sv_strand in_omim clinvar_sig clinvar_disease_name clinvar_dbsource clinvar_dbsource_id clinvar_origin clinvar_dsdb clinvar_dsdbid clinvar_disease_acc clinvar_in_locus_spec_db clinvar_on_diag_assay clinvar_causal_allele pfam_domain cyto_band rmsk in_cpg_island in_segdup is_conserved gerp_bp_score gerp_element_pval num_hom_ref num_het num_hom_alt num_unknown aaf hwe inbreeding_coeff pi recomb_rate gene transcript is_exonic is_coding is_splicing is_lof exon codon_change aa_change aa_length biotype impact impact_so impact_severity polyphen_pred polyphen_score sift_pred sift_score anc_allele rms_bq cigar depth strand_bias rms_map_qual in_hom_run num_mapq_zero num_alleles num_reads_w_dels haplotype_score qual_depth allele_count allele_bal in_hm2 in_hm3 is_somatic somatic_score in_esp aaf_esp_ea aaf_esp_aa aaf_esp_all exome_chip in_1kg aaf_1kg_amr aaf_1kg_eas aaf_1kg_sas aaf_1kg_afr aaf_1kg_eur aaf_1kg_all grc gms_illumina gms_solid gms_iontorrent in_cse encode_tfbs encode_dnaseI_cell_count encode_dnaseI_cell_list encode_consensus_gm12878 encode_consensus_h1hesc encode_consensus_helas3 encode_consensus_hepg2 encode_consensus_huvec encode_consensus_k562 vista_enhancers cosmic_ids info cadd_raw cadd_scaled fitcons in_exac aaf_exac_all aaf_adj_exac_all aaf_adj_exac_afr aaf_adj_exac_amr aaf_adj_exac_eas aaf_adj_exac_fin aaf_adj_exac_nfe aaf_adj_exac_oth aaf_adj_exac_sas exac_num_het exac_num_hom_alt exac_num_chroms max_aaf_all gts gt_types gt_phases gt_depths gt_ref_depths gt_alt_depths gt_quals gt_copy_numbers gt_phred_ll_homref gt_phred_ll_het gt_phred_ll_homalt family_id family_members family_genotypes samples family_count violation violation_prob
-chr10 1142207 1142208 None 1 4 T C 3404.30004883 None snp ts 1.0 1 rs10794716 None None None None None 1 None None None None None None None None None None None None None None None None None None chr10p15.3 None 0 0 0 None None 7 1 1 0 0.166666666667 0.0718606383197 0.6 0.294117647059 0.200924 WDR37 ENST00000381329 1 1 0 1 exon_10_1142110_1142566 Tga/Cga *250R 249 protein_coding stop_lost stop_lost HIGH None None None None None None None 122 None 36.0 0 0 8 0.0 2.67470002174 27.8999996185 8 None None None None None 1 0.999534883721 0.975034044485 0.991234814701 0 1 0.9942 1 1 0.9561 1 0.98762 None None None None 0 None 2 Osteobl;Progfib T T T T T T None None None None None 0.156188 1 0.997 0.997067786838 0.970305592927 0.998358956642 1 1 0.999595432887 0.998898678414 1 346 60354 121410 1.0 ['T/T' 'T/T' 'T/C' 'T/T' 'T/T' 'T/T' 'T/T' 'T/T' 'C/C'] [0 0 1 0 0 0 0 0 3] [False False False False False False False False False] [38 29 23 38 29 22 38 29 24] [1 0 0 1 0 0 1 0 0] [37 29 23 37 29 22 37 29 24] [ 87.16000366 78.19999695 66.13999939 87.16000366 78.19999695 66.13999939 87.16000366 78.19999695 66.13999939] None [940 899 729 940 899 729 940 899 729] [87 78 66 87 78 66 87 78 66] [0 0 0 0 0 0 0 0 0] 1 1_dad(1_dad;unaffected),1_mom(1_mom;unaffected),1_kid(1_kid;affected) T/T,T/T,T/C 1_kid 2 plausible de novo;implausible de novo 0.00000
-chr10 1142207 1142208 None 1 4 T C 3404.30004883 None snp ts 1.0 1 rs10794716 None None None None None 1 None None None None None None None None None None None None None None None None None None chr10p15.3 None 0 0 0 None None 7 1 1 0 0.166666666667 0.0718606383197 0.6 0.294117647059 0.200924 WDR37 ENST00000381329 1 1 0 1 exon_10_1142110_1142566 Tga/Cga *250R 249 protein_coding stop_lost stop_lost HIGH None None None None None None None 122 None 36.0 0 0 8 0.0 2.67470002174 27.8999996185 8 None None None None None 1 0.999534883721 0.975034044485 0.991234814701 0 1 0.9942 1 1 0.9561 1 0.98762 None None None None 0 None 2 Osteobl;Progfib T T T T T T None None None None None 0.156188 1 0.997 0.997067786838 0.970305592927 0.998358956642 1 1 0.999595432887 0.998898678414 1 346 60354 121410 1.0 ['T/T' 'T/T' 'T/C' 'T/T' 'T/T' 'T/T' 'T/T' 'T/T' 'C/C'] [0 0 1 0 0 0 0 0 3] [False False False False False False False False False] [38 29 23 38 29 22 38 29 24] [1 0 0 1 0 0 1 0 0] [37 29 23 37 29 22 37 29 24] [ 87.16000366 78.19999695 66.13999939 87.16000366 78.19999695 66.13999939 87.16000366 78.19999695 66.13999939] None [940 899 729 940 899 729 940 899 729] [87 78 66 87 78 66 87 78 66] [0 0 0 0 0 0 0 0 0] 3 3_dad(3_dad;unaffected),3_mom(3_mom;unaffected),3_kid(3_kid;affected) T/T,T/T,C/C 3_kid 2 plausible de novo;implausible de novo 0.00000
-chr10 48003991 48003992 None 2 1 C T 1047.86999512 None snp ts 1.0 1 rs142685947,rs3739968 None None None None None 1 None None None None None None None None None None None None None None None None None None chr10q11.22 None 0 1 1 None 3.10871e-42 2 6 1 0 0.444444444444 0.29371811258 -0.35 0.522875816993 1.718591 ASAH2C ENST00000420079 1 1 0 0 exon_10_48003968_48004056 tGt/tAt C540Y 610 protein_coding missense_variant missense_variant MED None None None None None None None 165 None 20.9400005341 0 0 8 0.0 4.382999897 9.52999973297 4 None None None None None 0 None None None 0 1 0.3112 0.4573 0.3855 0.1241 0.5149 0.346645 grc_fix 73.3 40.3 92.8 0 None None None R R R R R R None None None None None 0.553676 1 0.443 0.448537771896 0.288974151858 0.281426746944 0.543088975937 0.524984286612 0.478147713207 0.463529411765 0.418641164716 17495 15317 107302 0.543088975937 ['C/T' 'C/T' 'T/T' 'C/C' 'C/C' 'C/T' 'C/T' 'C/T' 'C/T'] [1 1 3 0 0 1 1 1 1] [False False False False False False False False False] [38 29 23 38 29 23 38 29 23] [1 0 0 1 0 0 1 0 0] [37 29 23 37 29 23 37 29 23] [ 87.16000366 78.19999695 66.13999939 87.16000366 78.19999695 66.13999939 87.16000366 78.19999695 66.13999939] None [940 899 729 940 899 729 940 899 729] [87 78 66 87 78 66 87 78 66] [0 0 0 0 0 0 0 0 0] 2 2_dad(2_dad;unaffected),2_mom(2_mom;unaffected),2_kid(2_kid;affected) C/C,C/C,C/T 2_kid 1 plausible de novo 0.00000
-chr10 48004991 48004992 None 3 1 C T 1047.86999512 None snp ts 1.0 0 None None None None None None 1 None None None None None None None None None None None None None None None None None None chr10q11.22 None 0 1 0 None None 2 6 1 0 0.444444444444 0.29371811258 -0.35 0.522875816993 1.718591 ASAH2C ENST00000420079 1 1 0 0 exon_10_48003968_48004056 tGt/tAt C540Y 610 protein_coding missense_variant missense_variant MED None None None None None None None 165 None 20.9400005341 0 0 8 0.0 4.382999897 9.52999973297 4 None None None None None 0 None None None 0 0 None None None None None None grc_fix None None None 0 None None None R R R R R R None None None None None 0.061011 0 None None None None None None None None None None None None -1.0 ['C/T' 'C/T' 'C/T' 'C/T' 'C/T' 'T/T' 'C/C' 'C/C' 'C/T'] [1 1 1 1 1 3 0 0 1] [False False False False False False False False False] [38 29 23 38 29 23 38 29 23] [1 0 0 1 0 0 1 0 0] [37 29 23 37 29 23 37 29 23] [ 87.16000366 78.19999695 66.13999939 87.16000366 78.19999695 66.13999939 87.16000366 78.19999695 66.13999939] None [940 899 729 940 899 729 940 899 729] [87 78 66 87 78 66 87 78 66] [0 0 0 0 0 0 0 0 0] 3 3_dad(3_dad;unaffected),3_mom(3_mom;unaffected),3_kid(3_kid;affected) C/C,C/C,C/T 3_kid 1 plausible de novo 0.00000
-chr10 135336655 135336656 None 4 1 G A 38.3400001526 None snp ts 1.0 1 rs6537611 None None None None None 1 None None None None None None None None None None None None None None None None None None chr10q26.3 None 0 0 0 None None 4 5 0 0 0.277777777778 0.248563248239 -0.384615384615 0.424836601307 0.43264 SPRN ENST00000541506 0 0 0 0 151 protein_coding intron_variant intron_variant LOW None None None None None None None 2 None 37.0 4 0 4 0.0 0.0 19.1700000763 4 None None None None None 0 None None None 0 1 0.9957 1 1 0.9297 1 0.980831 None None None None 0 None None None R R R R unknown R None None None None None 0.056701 0 None None None None None None None None None None None None 1.0 ['G/G' 'G/G' 'G/A' 'G/G' 'G/G' 'G/A' 'G/A' 'G/A' 'G/A'] [0 0 1 0 0 1 1 1 1] [False False False False False False False False False] [38 29 24 38 29 24 38 29 24] [1 0 0 1 0 0 1 0 0] [37 29 24 37 29 24 37 29 24] [ 87.16000366 78.19999695 66.13999939 87.16000366 78.19999695 66.13999939 87.16000366 78.19999695 66.13999939] None [940 899 729 940 899 729 940 899 729] [87 78 66 87 78 66 87 78 66] [0 0 0 0 0 0 0 0 0] 1 1_dad(1_dad;unaffected),1_mom(1_mom;unaffected),1_kid(1_kid;affected) G/G,G/G,G/A 1_kid 2 plausible de novo;plausible de novo 0.00000
-chr10 135336655 135336656 None 4 1 G A 38.3400001526 None snp ts 1.0 1 rs6537611 None None None None None 1 None None None None None None None None None None None None None None None None None None chr10q26.3 None 0 0 0 None None 4 5 0 0 0.277777777778 0.248563248239 -0.384615384615 0.424836601307 0.43264 SPRN ENST00000541506 0 0 0 0 151 protein_coding intron_variant intron_variant LOW None None None None None None None 2 None 37.0 4 0 4 0.0 0.0 19.1700000763 4 None None None None None 0 None None None 0 1 0.9957 1 1 0.9297 1 0.980831 None None None None 0 None None None R R R R unknown R None None None None None 0.056701 0 None None None None None None None None None None None None 1.0 ['G/G' 'G/G' 'G/A' 'G/G' 'G/G' 'G/A' 'G/A' 'G/A' 'G/A'] [0 0 1 0 0 1 1 1 1] [False False False False False False False False False] [38 29 24 38 29 24 38 29 24] [1 0 0 1 0 0 1 0 0] [37 29 24 37 29 24 37 29 24] [ 87.16000366 78.19999695 66.13999939 87.16000366 78.19999695 66.13999939 87.16000366 78.19999695 66.13999939] None [940 899 729 940 899 729 940 899 729] [87 78 66 87 78 66 87 78 66] [0 0 0 0 0 0 0 0 0] 2 2_dad(2_dad;unaffected),2_mom(2_mom;unaffected),2_kid(2_kid;affected) G/G,G/G,G/A 2_kid 2 plausible de novo;plausible de novo 0.00000
-chr10 135369531 135369532 None 5 6 T C 122.620002747 None snp ts 1.0 1 rs3747881,rs386585367 None None None None None 1 None None None None None None None None None None None None None None None None None None chr10q26.3 None 0 0 1 None 3.86096e-59 6 3 0 0 0.166666666667 0.548506235587 -0.2 0.294117647059 0.022013 SYCE1 ENST00000368517 1 1 0 0 exon_10_135369485_135369551 aAg/aGg K147R 282 protein_coding missense_variant missense_variant MED None None None None None None None 239 None 36.0200004578 2 0 8 0.0 5.71409988403 2.30999994278 2 None None None None None 1 0.0938372093023 0.163867453473 0.117561125634 1 1 0.1844 0.2698 0.2188 0.1997 0.1093 0.197284 None None None None 0 None None None R R R R R R None None None None None 0.487112 1 0.134 0.134286610119 0.184985563041 0.164938655607 0.256026889198 0.122313048744 0.0919761054243 0.113686534216 0.194096927001 13825 1225 121196 0.2698 ['T/T' 'T/T' 'T/C' 'T/T' 'T/T' 'T/C' 'T/T' 'T/T' 'T/C'] [0 0 1 0 0 1 0 0 1] [False False False False False False False False False] [38 29 22 38 29 21 38 29 24] [1 0 0 1 0 0 1 0 0] [37 29 22 37 29 21 37 29 24] [ 87.16000366 78.19999695 66.13999939 87.16000366 78.19999695 66.13999939 87.16000366 78.19999695 66.13999939] None [940 899 729 940 899 729 940 899 729] [87 78 66 87 78 66 87 78 66] [0 0 0 0 0 0 0 0 0] 1 1_dad(1_dad;unaffected),1_mom(1_mom;unaffected),1_kid(1_kid;affected) T/T,T/T,T/C 1_kid 3 plausible de novo;plausible de novo;plausible de novo 0.00000
-chr10 135369531 135369532 None 5 6 T C 122.620002747 None snp ts 1.0 1 rs3747881,rs386585367 None None None None None 1 None None None None None None None None None None None None None None None None None None chr10q26.3 None 0 0 1 None 3.86096e-59 6 3 0 0 0.166666666667 0.548506235587 -0.2 0.294117647059 0.022013 SYCE1 ENST00000368517 1 1 0 0 exon_10_135369485_135369551 aAg/aGg K147R 282 protein_coding missense_variant missense_variant MED None None None None None None None 239 None 36.0200004578 2 0 8 0.0 5.71409988403 2.30999994278 2 None None None None None 1 0.0938372093023 0.163867453473 0.117561125634 1 1 0.1844 0.2698 0.2188 0.1997 0.1093 0.197284 None None None None 0 None None None R R R R R R None None None None None 0.487112 1 0.134 0.134286610119 0.184985563041 0.164938655607 0.256026889198 0.122313048744 0.0919761054243 0.113686534216 0.194096927001 13825 1225 121196 0.2698 ['T/T' 'T/T' 'T/C' 'T/T' 'T/T' 'T/C' 'T/T' 'T/T' 'T/C'] [0 0 1 0 0 1 0 0 1] [False False False False False False False False False] [38 29 22 38 29 21 38 29 24] [1 0 0 1 0 0 1 0 0] [37 29 22 37 29 21 37 29 24] [ 87.16000366 78.19999695 66.13999939 87.16000366 78.19999695 66.13999939 87.16000366 78.19999695 66.13999939] None [940 899 729 940 899 729 940 899 729] [87 78 66 87 78 66 87 78 66] [0 0 0 0 0 0 0 0 0] 3 3_dad(3_dad;unaffected),3_mom(3_mom;unaffected),3_kid(3_kid;affected) T/T,T/T,T/C 3_kid 3 plausible de novo;plausible de novo;plausible de novo 0.00000
-chr10 135369531 135369532 None 5 6 T C 122.620002747 None snp ts 1.0 1 rs3747881,rs386585367 None None None None None 1 None None None None None None None None None None None None None None None None None None chr10q26.3 None 0 0 1 None 3.86096e-59 6 3 0 0 0.166666666667 0.548506235587 -0.2 0.294117647059 0.022013 SYCE1 ENST00000368517 1 1 0 0 exon_10_135369485_135369551 aAg/aGg K147R 282 protein_coding missense_variant missense_variant MED None None None None None None None 239 None 36.0200004578 2 0 8 0.0 5.71409988403 2.30999994278 2 None None None None None 1 0.0938372093023 0.163867453473 0.117561125634 1 1 0.1844 0.2698 0.2188 0.1997 0.1093 0.197284 None None None None 0 None None None R R R R R R None None None None None 0.487112 1 0.134 0.134286610119 0.184985563041 0.164938655607 0.256026889198 0.122313048744 0.0919761054243 0.113686534216 0.194096927001 13825 1225 121196 0.2698 ['T/T' 'T/T' 'T/C' 'T/T' 'T/T' 'T/C' 'T/T' 'T/T' 'T/C'] [0 0 1 0 0 1 0 0 1] [False False False False False False False False False] [38 29 22 38 29 21 38 29 24] [1 0 0 1 0 0 1 0 0] [37 29 22 37 29 21 37 29 24] [ 87.16000366 78.19999695 66.13999939 87.16000366 78.19999695 66.13999939 87.16000366 78.19999695 66.13999939] None [940 899 729 940 899 729 940 899 729] [87 78 66 87 78 66 87 78 66] [0 0 0 0 0 0 0 0 0] 2 2_dad(2_dad;unaffected),2_mom(2_mom;unaffected),2_kid(2_kid;affected) T/T,T/T,T/C 2_kid 3 plausible de novo;plausible de novo;plausible de novo 0.00000
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_pathways_result.tabular
--- a/test-data/gemini_pathways_result.tabular Sat Dec 08 10:26:24 2018 -0500
+++ /dev/null Thu Jan 01 00:00:00 1970 +0000
@@ -1,17 +0,0 @@
-chrom start end ref alt impact sample genotype gene transcript pathway
-chr10 52004314 52004315 T C intron_variant M10500 C/C ASAH2 ENST00000329428 hsa00600:Sphingolipid_metabolism,hsa01100:Metabolic_pathways
-chr10 52004314 52004315 T C intron_variant M128215 C/C ASAH2 ENST00000329428 hsa00600:Sphingolipid_metabolism,hsa01100:Metabolic_pathways
-chr10 52004314 52004315 T C intron_variant M10500 C/C ASAH2 ENST00000447815 hsa00600:Sphingolipid_metabolism,hsa01100:Metabolic_pathways
-chr10 52004314 52004315 T C intron_variant M128215 C/C ASAH2 ENST00000447815 hsa00600:Sphingolipid_metabolism,hsa01100:Metabolic_pathways
-chr10 52004314 52004315 T C intron_variant M10500 C/C ASAH2 ENST00000395526 hsa00600:Sphingolipid_metabolism,hsa01100:Metabolic_pathways
-chr10 52004314 52004315 T C intron_variant M128215 C/C ASAH2 ENST00000395526 hsa00600:Sphingolipid_metabolism,hsa01100:Metabolic_pathways
-chr10 126678091 126678092 G A stop_gained M128215 G/A CTBP2 ENST00000531469 hsa05220:Chronic_myeloid_leukemia,hsa04310:Wnt_signaling_pathway,hsa04330:Notch_signaling_pathway,hsa05200:Pathways_in_cancer
-chr10 126678091 126678092 G A stop_gained M128215 G/A CTBP2 ENST00000309035 hsa05220:Chronic_myeloid_leukemia,hsa04310:Wnt_signaling_pathway,hsa04330:Notch_signaling_pathway,hsa05200:Pathways_in_cancer
-chr10 126678091 126678092 G A stop_gained M128215 G/A CTBP2 ENST00000494626 hsa05220:Chronic_myeloid_leukemia,hsa04310:Wnt_signaling_pathway,hsa04330:Notch_signaling_pathway,hsa05200:Pathways_in_cancer
-chr10 126678091 126678092 G A stop_gained M128215 G/A CTBP2 ENST00000337195 hsa05220:Chronic_myeloid_leukemia,hsa04310:Wnt_signaling_pathway,hsa04330:Notch_signaling_pathway,hsa05200:Pathways_in_cancer
-chr10 126678091 126678092 G A stop_gained M128215 G/A CTBP2 ENST00000411419 hsa05220:Chronic_myeloid_leukemia,hsa04310:Wnt_signaling_pathway,hsa04330:Notch_signaling_pathway,hsa05200:Pathways_in_cancer
-chr10 135336655 135336656 G A intron_variant M10478 A/A CYP2E1 ENST00000463117 hsa00982:Drug_metabolism_cytochrome_P450,hsa01100:Metabolic_pathways,hsa00590:Arachidonic_acid_metabolism,hsa00980:Metabolism_of_xenobiotics_by_cytochrome_P450,hsa00591:Linoleic_acid_metabolism
-chr10 135336655 135336656 G A intron_variant M128215 A/A CYP2E1 ENST00000463117 hsa00982:Drug_metabolism_cytochrome_P450,hsa01100:Metabolic_pathways,hsa00590:Arachidonic_acid_metabolism,hsa00980:Metabolism_of_xenobiotics_by_cytochrome_P450,hsa00591:Linoleic_acid_metabolism
-chr10 135336655 135336656 G A upstream_gene_variant M10478 A/A CYP2E1 ENST00000252945 hsa00982:Drug_metabolism_cytochrome_P450,hsa01100:Metabolic_pathways,hsa00590:Arachidonic_acid_metabolism,hsa00980:Metabolism_of_xenobiotics_by_cytochrome_P450,hsa00591:Linoleic_acid_metabolism
-chr10 135336655 135336656 G A upstream_gene_variant M128215 A/A CYP2E1 ENST00000252945 hsa00982:Drug_metabolism_cytochrome_P450,hsa01100:Metabolic_pathways,hsa00590:Arachidonic_acid_metabolism,hsa00980:Metabolism_of_xenobiotics_by_cytochrome_P450,hsa00591:Linoleic_acid_metabolism
-chr16 72057434 72057435 C T missense_variant M10475 C/T DHODH ENST00000219240 hsa01100:Metabolic_pathways,hsa00240:Pyrimidine_metabolism
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_qc_result.tabular
--- a/test-data/gemini_qc_result.tabular Sat Dec 08 10:26:24 2018 -0500
+++ /dev/null Thu Jan 01 00:00:00 1970 +0000
@@ -1,5 +0,0 @@
-sample sex chrX_homref chrX_het chrX_homalt chrX_unknown
-M10475 male 0 0 0 0
-M10478 female 0 0 0 0
-M10500 female 0 0 0 0
-M128215 male 0 0 0 0
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_query_result.tabular
--- a/test-data/gemini_query_result.tabular Sat Dec 08 10:26:24 2018 -0500
+++ /dev/null Thu Jan 01 00:00:00 1970 +0000
@@ -1,10 +0,0 @@
-10582
-10610
-13301
-13326
-13956
-13979
-30922
-46401
-47189
-51475
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_region_result.tabular
--- a/test-data/gemini_region_result.tabular Sat Dec 08 10:26:24 2018 -0500
+++ /dev/null Thu Jan 01 00:00:00 1970 +0000
@@ -1,1 +0,0 @@
-chr10 48003991 48003992 None 2 1 C T 1047.86999512 None snp ts 1.0 1 rs142685947,rs3739968 None None None None None 1 None None None None None None None None None None None None None None None None None None chr10q11.22 None 0 1 1 None 3.10871e-42 1 2 1 0 0.5 1 0 0.571428571429 1.718591 ASAH2C ENST00000420079 1 1 0 0 16/17 tGt/tAt C/Y 542/612 protein_coding missense_variant missense_variant MED benign 0.0 tolerated 1.0 None None None 165 None 20.9400005341 0 0 8 0.0 4.382999897 9.52999973297 4 None None None None None 0 None None None 0 1 0.3112 0.4573 0.3855 0.1241 0.5149 0.346645 grc_fix 73.3 40.3 92.8 0 None None None R R R R R R None None None None None 0.553676 1 0.443 0.448537771896 0.288974151858 0.281426746944 0.543088975937 0.524984286612 0.478147713207 0.463529411765 0.418641164716 17495 15317 107302 1 0.543088975937
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_roh_result.tabular
--- a/test-data/gemini_roh_result.tabular Sat Dec 08 10:26:24 2018 -0500
+++ /dev/null Thu Jan 01 00:00:00 1970 +0000
@@ -1,7 +0,0 @@
-chrom start end sample num_of_snps density_per_kb run_length_in_bp
-chr10 1142208 135369532 M10475 5 0.0 134227324
-chr10 1142208 135210791 M10500 5 0.0001 134068583
-chr10 1142208 135210791 M10478 5 0.0001 134068583
-chr10 1142208 135336656 M10478 4 0.0 134194448
-chr10 1142208 135336656 M128215 6 0.0001 134194448
-chr10 1142208 135369532 M128215 5 0.0 134227324
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_stats_result.tabular
--- a/test-data/gemini_stats_result.tabular Sat Dec 08 10:26:24 2018 -0500
+++ /dev/null Thu Jan 01 00:00:00 1970 +0000
@@ -1,5 +0,0 @@
-sample total
-M10475 3
-M10478 6
-M10500 6
-M128215 4
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_versioned_databases.loc
--- /dev/null Thu Jan 01 00:00:00 1970 +0000
+++ b/test-data/gemini_versioned_databases.loc Fri Dec 14 12:34:23 2018 -0500
@@ -0,0 +1,3 @@
+## GEMINI versioned databases
+#DownloadDate dbkey DBversion Description Path
+1999-01-01 hg19 181 GEMINI annotations (test snapshot) ${__HERE__}/test-cache
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_windower_input.db
Binary file test-data/gemini_windower_input.db has changed
diff -r 1a30b31af89a -r 5fb59611125e test-data/gemini_windower_template.tabular
--- /dev/null Thu Jan 01 00:00:00 1970 +0000
+++ b/test-data/gemini_windower_template.tabular Fri Dec 14 12:34:23 2018 -0500
@@ -0,0 +1,142 @@
+chr1 0 50000 .
+chr1 50000000 50050000 .
+chr1 100000000 100050000 .
+chr1 150000000 150050000 .
+chr1 200000000 200050000 .
+chr10 0 50000 .
+chr10 50000000 50050000 .
+chr10 100000000 100050000 .
+chr11 0 50000 .
+chr11 50000000 50050000 .
+chr11 100000000 100050000 .
+chr11_gl000202_random 0 40103 .
+chr12 0 50000 .
+chr12 50000000 50050000 .
+chr12 100000000 100050000 .
+chr13 0 50000 .
+chr13 50000000 50050000 .
+chr13 100000000 100050000 .
+chr14 0 50000 .
+chr14 50000000 50050000 .
+chr14 100000000 100050000 .
+chr15 0 50000 .
+chr15 50000000 50050000 .
+chr15 100000000 100050000 .
+chr16 0 50000 .
+chr16 50000000 50050000 .
+chr17 0 50000 .
+chr17 50000000 50050000 .
+chr17_ctg5_hap1 0 50000 .
+chr17_gl000203_random 0 37498 .
+chr17_gl000204_random 0 50000 .
+chr17_gl000205_random 0 50000 .
+chr17_gl000206_random 0 41001 .
+chr18 0 50000 .
+chr18 50000000 50050000 .
+chr18_gl000207_random 0 4262 .
+chr19 0 50000 .
+chr19 50000000 50050000 .
+chr19_gl000208_random 0 50000 .
+chr19_gl000209_random 0 50000 .
+chr1_gl000191_random 0 50000 .
+chr1_gl000192_random 0 50000 .
+chr2 0 50000 .
+chr2 50000000 50050000 .
+chr2 100000000 100050000 .
+chr2 150000000 150050000 .
+chr2 200000000 200050000 .
+chr20 0 50000 .
+chr20 50000000 50050000 .
+chr21 0 50000 .
+chr21_gl000210_random 0 27682 .
+chr22 0 50000 .
+chr22 50000000 50050000 .
+chr3 0 50000 .
+chr3 50000000 50050000 .
+chr3 100000000 100050000 .
+chr3 150000000 150050000 .
+chr4 0 50000 .
+chr4 50000000 50050000 .
+chr4 100000000 100050000 .
+chr4 150000000 150050000 .
+chr4_ctg9_hap1 0 50000 .
+chr4_gl000193_random 0 50000 .
+chr4_gl000194_random 0 50000 .
+chr5 0 50000 .
+chr5 50000000 50050000 .
+chr5 100000000 100050000 .
+chr5 150000000 150050000 .
+chr6 0 50000 .
+chr6 50000000 50050000 .
+chr6 100000000 100050000 .
+chr6 150000000 150050000 .
+chr6_apd_hap1 0 50000 .
+chr6_cox_hap2 0 50000 .
+chr6_dbb_hap3 0 50000 .
+chr6_mann_hap4 0 50000 .
+chr6_mcf_hap5 0 50000 .
+chr6_qbl_hap6 0 50000 .
+chr6_ssto_hap7 0 50000 .
+chr7 0 50000 .
+chr7 50000000 50050000 .
+chr7 100000000 100050000 .
+chr7 150000000 150050000 .
+chr7_gl000195_random 0 50000 .
+chr8 0 50000 .
+chr8 50000000 50050000 .
+chr8 100000000 100050000 .
+chr8_gl000196_random 0 38914 .
+chr8_gl000197_random 0 37175 .
+chr9 0 50000 .
+chr9 50000000 50050000 .
+chr9 100000000 100050000 .
+chr9_gl000198_random 0 50000 .
+chr9_gl000199_random 0 50000 .
+chr9_gl000200_random 0 50000 .
+chr9_gl000201_random 0 36148 .
+chrM 0 16571 .
+chrUn_gl000211 0 50000 .
+chrUn_gl000212 0 50000 .
+chrUn_gl000213 0 50000 .
+chrUn_gl000214 0 50000 .
+chrUn_gl000215 0 50000 .
+chrUn_gl000216 0 50000 .
+chrUn_gl000217 0 50000 .
+chrUn_gl000218 0 50000 .
+chrUn_gl000219 0 50000 .
+chrUn_gl000220 0 50000 .
+chrUn_gl000221 0 50000 .
+chrUn_gl000222 0 50000 .
+chrUn_gl000223 0 50000 .
+chrUn_gl000224 0 50000 .
+chrUn_gl000225 0 50000 .
+chrUn_gl000226 0 15008 .
+chrUn_gl000227 0 50000 .
+chrUn_gl000228 0 50000 .
+chrUn_gl000229 0 19913 .
+chrUn_gl000230 0 43691 .
+chrUn_gl000231 0 27386 .
+chrUn_gl000232 0 40652 .
+chrUn_gl000233 0 45941 .
+chrUn_gl000234 0 40531 .
+chrUn_gl000235 0 34474 .
+chrUn_gl000236 0 41934 .
+chrUn_gl000237 0 45867 .
+chrUn_gl000238 0 39939 .
+chrUn_gl000239 0 33824 .
+chrUn_gl000240 0 41933 .
+chrUn_gl000241 0 42152 .
+chrUn_gl000242 0 43523 .
+chrUn_gl000243 0 43341 .
+chrUn_gl000244 0 39929 .
+chrUn_gl000245 0 36651 .
+chrUn_gl000246 0 38154 .
+chrUn_gl000247 0 36422 .
+chrUn_gl000248 0 39786 .
+chrUn_gl000249 0 38502 .
+chrX 0 50000 .
+chrX 50000000 50050000 .
+chrX 100000000 100050000 .
+chrX 150000000 150050000 .
+chrY 0 50000 .
+chrY 50000000 50050000 .
diff -r 1a30b31af89a -r 5fb59611125e test-data/test-cache/gemini-config.yaml
--- /dev/null Thu Jan 01 00:00:00 1970 +0000
+++ b/test-data/test-cache/gemini-config.yaml Fri Dec 14 12:34:23 2018 -0500
@@ -0,0 +1,13 @@
+annotation_dir: gemini/data
+versions:
+ ALL.wgs.phase3_shapeit2_mvncall_integrated_v5a.20130502.sites.tidy.vcf.gz: 4
+ ESP6500SI.all.snps_indels.tidy.v2.vcf.gz: 2
+ ExAC.r0.3.sites.vep.tidy.vcf.gz: 3
+ GRCh37-gms-mappability.vcf.gz: 2
+ clinvar_20160203.tidy.vcf.gz: 5
+ cosmic-v68-GRCh37.tidy.vcf.gz: 3
+ dbsnp.b141.20140813.hg19.tidy.vcf.gz: 4
+ detailed_gene_table_v75: 2
+ geno2mp.variants.tidy.vcf.gz: 1
+ hg19.rmsk.bed.gz: 2
+ summary_gene_table_v75: 2
diff -r 1a30b31af89a -r 5fb59611125e test-data/test-cache/gemini/data/29way_pi_lods_elements_12mers.chr_specific.fdr_0.1_with_scores.txt.hg19.merged.bed.gz
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diff -r 1a30b31af89a -r 5fb59611125e test-data/test-cache/gemini/data/cancer_gene_census.20140120.tsv
--- /dev/null Thu Jan 01 00:00:00 1970 +0000
+++ b/test-data/test-cache/gemini/data/cancer_gene_census.20140120.tsv Fri Dec 14 12:34:23 2018 -0500
@@ -0,0 +1,19 @@
+ARHH "RAS homolog gene family, member H (TTF)" 399 4 4p13 yes NHL L Dom T BCL6
+BCL5 B-cell CLL/lymphoma 5 603 17 17q22 yes CLL L Dom T MYC
+BCL6 B-cell CLL/lymphoma 6 604 3 3q27 yes "NHL, CLL" L Dom "T, Mis" "IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R, POU2AF1, ARHH, EIF4A2, SFRS3"
+BCOR BCL6 corepressor 54880 X Xp11.4 yes "retinoblastoma, AML, APL (translocation)" Rec "F, N, S, T" RARA yes oculo-facio-cardio-dental genetic
+CIITA "class II, major histocompatibility complex, transactivator" 4261 16 16p13 yes "PMBL, Hodgkin lymphoma" L Dom T "FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"
+EIF4A2 "eukaryotic translation initiation factor 4A, isoform 2" 1974 3 3q27.3 yes NHL L Dom T BCL6
+HIST1H4I "histone 1, H4i (H4FM)" 8294 6 6p21.3 yes NHL L Dom T BCL6
+HSPCA "heat shock 90kDa protein 1, alpha" 3320 14 14q32.31 yes NHL L Dom T BCL6
+HSPCB "heat shock 90kDa protein 1, beta" 3326 6 6p12 yes NHL L Dom T BCL6
+IGH@ immunoglobulin heavy locus 3492 14 14q32.33 yes "MM, Burkitt lymphoma, NHL, CLL, B-ALL, MALT, MLCLS" L Dom T "MYC, FGFR3,PAX5, IRTA1, IRF4, CCND1, BCL9, BCL8, BCL6, BCL2, BCL3, BCL10, BCL11A. LHX4, DDX6, NFKB2, PAFAH1B2, PCSK7, CRLF2"
+IKZF1 IKAROS family zinc finger 1 10320 7 7p12.2 yes "ALL, DLBCL" L "Rec,Dom" "D,T" BCL6
+IL21R interleukin 21 receptor 50615 16 16p11 yes NHL L Dom T BCL6
+LCP1 lymphocyte cytosolic protein 1 (L-plastin) 3936 13 13q14.1-q14.3 yes NHL L Dom T BCL6
+MYC v-myc myelocytomatosis viral oncogene homolog (avian) 4609 8 8q24.12-q24.13 yes "Burkitt lymphoma, amplified in other cancers, B-CLL" "L, E" Dom "A, T" "IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"
+NACA nascent-polypeptide-associated complex alpha polypeptide 4666 12 12q23-q24.1 yes NHL L Dom T BCL6
+PIM1 pim-1 oncogene 5292 6 6p21.2 yes NHL L Dom T BCL6
+POU2AF1 "POU domain, class 2, associating factor 1 (OBF1)" 5450 11 11q23.1 yes NHL L Dom T BCL6
+SFRS3 "splicing factor, arginine/serine-rich 3" 6428 6 6p21 yes follicular lymphoma L Dom T BCL6
+TFRC "transferrin receptor (p90, CD71)" 7037 3 3q29 yes NHL L Dom T BCL6
diff -r 1a30b31af89a -r 5fb59611125e test-data/test-cache/gemini/data/clinvar_20160203.tidy.vcf.gz
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diff -r 1a30b31af89a -r 5fb59611125e test-data/test-cache/gemini/data/detailed_gene_table_v75
--- /dev/null Thu Jan 01 00:00:00 1970 +0000
+++ b/test-data/test-cache/gemini/data/detailed_gene_table_v75 Fri Dec 14 12:34:23 2018 -0500
@@ -0,0 +1,114 @@
+Chromosome Gene_name Is_hgnc Ensembl_gene_id Ensembl_transcript_id Biotype Transcript_status CCDS_id HGNC_id CDS_length Protein_length Transcript_start Transcript_end strand Synonyms Rvis_pct entrez_gene_id mammalian_phenotype_id
+chr3 None 0 ENSG00000239093 ENST00000459452 snoRNA KNOWN None None None None 187141103 187141207 1 None None None None
+chr3 None 0 ENSG00000228952 ENST00000440726 lincRNA KNOWN None None None None 187166633 187167238 1 None None None None
+chr3 None 0 ENSG00000223401 ENST00000450760 lincRNA KNOWN None None None None 187461474 187463208 1 None None None None
+chr3 MASP 0 ENSG00000127241 ENST00000337774 protein_coding KNOWN CCDS33907 None 2100 699 186935942 187009810 -1 PRSS5,MASP1,CRARF 16.8141071 5648 None
+chr3 PRSS5 0 ENSG00000127241 ENST00000337774 protein_coding KNOWN CCDS33907 None 2100 699 186935942 187009810 -1 MASP1,CRARF,MASP 16.8141071 5648 None
+chr3 MASP1 1 ENSG00000127241 ENST00000337774 protein_coding KNOWN CCDS33907 6901 2100 699 186935942 187009810 -1 PRSS5,CRARF,MASP 16.8141071 5648 None
+chr3 CRARF 0 ENSG00000127241 ENST00000337774 protein_coding KNOWN CCDS33907 None 2100 699 186935942 187009810 -1 PRSS5,MASP1,MASP 16.8141071 5648 None
+chr3 MASP 0 ENSG00000127241 ENST00000296280 protein_coding KNOWN CCDS33908 None 2187 728 186951870 187009646 -1 PRSS5,MASP1,CRARF 16.8141071 5648 None
+chr3 PRSS5 0 ENSG00000127241 ENST00000296280 protein_coding KNOWN CCDS33908 None 2187 728 186951870 187009646 -1 MASP1,CRARF,MASP 16.8141071 5648 None
+chr3 MASP1 1 ENSG00000127241 ENST00000296280 protein_coding KNOWN CCDS33908 6901 2187 728 186951870 187009646 -1 PRSS5,CRARF,MASP 16.8141071 5648 None
+chr3 CRARF 0 ENSG00000127241 ENST00000296280 protein_coding KNOWN CCDS33908 None 2187 728 186951870 187009646 -1 PRSS5,MASP1,MASP 16.8141071 5648 None
+chr3 MASP 0 ENSG00000127241 ENST00000392472 protein_coding PUTATIVE None None 1848 615 186951872 187009765 -1 PRSS5,MASP1,CRARF 16.8141071 5648 None
+chr3 PRSS5 0 ENSG00000127241 ENST00000392472 protein_coding PUTATIVE None None 1848 615 186951872 187009765 -1 MASP1,CRARF,MASP 16.8141071 5648 None
+chr3 MASP1 1 ENSG00000127241 ENST00000392472 protein_coding PUTATIVE None 6901 1848 615 186951872 187009765 -1 PRSS5,CRARF,MASP 16.8141071 5648 None
+chr3 CRARF 0 ENSG00000127241 ENST00000392472 protein_coding PUTATIVE None None 1848 615 186951872 187009765 -1 PRSS5,MASP1,MASP 16.8141071 5648 None
+chr3 MASP 0 ENSG00000127241 ENST00000495249 processed_transcript PUTATIVE None None None None 186953655 187009542 -1 PRSS5,MASP1,CRARF 16.8141071 5648 None
+chr3 PRSS5 0 ENSG00000127241 ENST00000495249 processed_transcript PUTATIVE None None None None 186953655 187009542 -1 MASP1,CRARF,MASP 16.8141071 5648 None
+chr3 MASP1 1 ENSG00000127241 ENST00000495249 processed_transcript PUTATIVE None 6901 None None 186953655 187009542 -1 PRSS5,CRARF,MASP 16.8141071 5648 None
+chr3 CRARF 0 ENSG00000127241 ENST00000495249 processed_transcript PUTATIVE None None None None 186953655 187009542 -1 PRSS5,MASP1,MASP 16.8141071 5648 None
+chr3 MASP 0 ENSG00000127241 ENST00000169293 protein_coding KNOWN CCDS33909 None 1143 380 186964149 187009745 -1 PRSS5,MASP1,CRARF 16.8141071 5648 None
+chr3 PRSS5 0 ENSG00000127241 ENST00000169293 protein_coding KNOWN CCDS33909 None 1143 380 186964149 187009745 -1 MASP1,CRARF,MASP 16.8141071 5648 None
+chr3 MASP1 1 ENSG00000127241 ENST00000169293 protein_coding KNOWN CCDS33909 6901 1143 380 186964149 187009745 -1 PRSS5,CRARF,MASP 16.8141071 5648 None
+chr3 CRARF 0 ENSG00000127241 ENST00000169293 protein_coding KNOWN CCDS33909 None 1143 380 186964149 187009745 -1 PRSS5,MASP1,MASP 16.8141071 5648 None
+chr3 MASP 0 ENSG00000127241 ENST00000392470 protein_coding PUTATIVE None None 1065 354 186964947 187009670 -1 PRSS5,MASP1,CRARF 16.8141071 5648 None
+chr3 PRSS5 0 ENSG00000127241 ENST00000392470 protein_coding PUTATIVE None None 1065 354 186964947 187009670 -1 MASP1,CRARF,MASP 16.8141071 5648 None
+chr3 MASP1 1 ENSG00000127241 ENST00000392470 protein_coding PUTATIVE None 6901 1065 354 186964947 187009670 -1 PRSS5,CRARF,MASP 16.8141071 5648 None
+chr3 CRARF 0 ENSG00000127241 ENST00000392470 protein_coding PUTATIVE None None 1065 354 186964947 187009670 -1 PRSS5,MASP1,MASP 16.8141071 5648 None
+chr3 MASP 0 ENSG00000127241 ENST00000460839 retained_intron KNOWN None None None None 186974373 187003796 -1 PRSS5,MASP1,CRARF 16.8141071 5648 None
+chr3 PRSS5 0 ENSG00000127241 ENST00000460839 retained_intron KNOWN None None None None 186974373 187003796 -1 MASP1,CRARF,MASP 16.8141071 5648 None
+chr3 MASP1 1 ENSG00000127241 ENST00000460839 retained_intron KNOWN None 6901 None None 186974373 187003796 -1 PRSS5,CRARF,MASP 16.8141071 5648 None
+chr3 CRARF 0 ENSG00000127241 ENST00000460839 retained_intron KNOWN None None None None 186974373 187003796 -1 PRSS5,MASP1,MASP 16.8141071 5648 None
+chr3 MASP 0 ENSG00000127241 ENST00000392475 protein_coding NOVEL None None 614 203 186974603 187009768 -1 PRSS5,MASP1,CRARF 16.8141071 5648 None
+chr3 PRSS5 0 ENSG00000127241 ENST00000392475 protein_coding NOVEL None None 614 203 186974603 187009768 -1 MASP1,CRARF,MASP 16.8141071 5648 None
+chr3 MASP1 1 ENSG00000127241 ENST00000392475 protein_coding NOVEL None 6901 614 203 186974603 187009768 -1 PRSS5,CRARF,MASP 16.8141071 5648 None
+chr3 CRARF 0 ENSG00000127241 ENST00000392475 protein_coding NOVEL None None 614 203 186974603 187009768 -1 PRSS5,MASP1,MASP 16.8141071 5648 None
+chr3 MASP 0 ENSG00000127241 ENST00000439271 protein_coding PUTATIVE None None 355 117 186980469 187009746 -1 PRSS5,MASP1,CRARF 16.8141071 5648 None
+chr3 PRSS5 0 ENSG00000127241 ENST00000439271 protein_coding PUTATIVE None None 355 117 186980469 187009746 -1 MASP1,CRARF,MASP 16.8141071 5648 None
+chr3 MASP1 1 ENSG00000127241 ENST00000439271 protein_coding PUTATIVE None 6901 355 117 186980469 187009746 -1 PRSS5,CRARF,MASP 16.8141071 5648 None
+chr3 CRARF 0 ENSG00000127241 ENST00000439271 protein_coding PUTATIVE None None 355 117 186980469 187009746 -1 PRSS5,MASP1,MASP 16.8141071 5648 None
+chr3 MASP 0 ENSG00000127241 ENST00000425937 protein_coding PUTATIVE None None 166 54 186980502 187009485 -1 PRSS5,MASP1,CRARF 16.8141071 5648 None
+chr3 PRSS5 0 ENSG00000127241 ENST00000425937 protein_coding PUTATIVE None None 166 54 186980502 187009485 -1 MASP1,CRARF,MASP 16.8141071 5648 None
+chr3 MASP1 1 ENSG00000127241 ENST00000425937 protein_coding PUTATIVE None 6901 166 54 186980502 187009485 -1 PRSS5,CRARF,MASP 16.8141071 5648 None
+chr3 CRARF 0 ENSG00000127241 ENST00000425937 protein_coding PUTATIVE None None 166 54 186980502 187009485 -1 PRSS5,MASP1,MASP 16.8141071 5648 None
+chr3 IFRG28 0 ENSG00000136514 ENST00000259030 protein_coding KNOWN CCDS33910 None 741 246 187086120 187089864 1 RTP4,Z3CXXC4 94.35008257 64108 None
+chr3 RTP4 1 ENSG00000136514 ENST00000259030 protein_coding KNOWN CCDS33910 23992 741 246 187086120 187089864 1 IFRG28,Z3CXXC4 94.35008257 64108 None
+chr3 Z3CXXC4 0 ENSG00000136514 ENST00000259030 protein_coding KNOWN CCDS33910 None 741 246 187086120 187089864 1 IFRG28,RTP4 94.35008257 64108 None
+chr3 SST 1 ENSG00000157005 ENST00000287641 protein_coding KNOWN CCDS3288 11329 351 116 187386694 187388187 -1 SMST 78.16112291 6750 MP:0002873,MP:0005386,MP:0005376,MP:0005381,MP:0003631,MP:0005378
+chr3 SMST 0 ENSG00000157005 ENST00000287641 protein_coding KNOWN CCDS3288 None 351 116 187386694 187388187 -1 SST 78.16112291 6750 MP:0002873,MP:0005386,MP:0005376,MP:0005381,MP:0003631,MP:0005378
+chr3 Z3CXXC2 0 ENSG00000198471 ENST00000358241 protein_coding KNOWN CCDS33911 None 678 225 187416047 187420345 -1 RTP2,MGC78665 69.20853975 344892 MP:0005389
+chr3 RTP2 1 ENSG00000198471 ENST00000358241 protein_coding KNOWN CCDS33911 32486 678 225 187416047 187420345 -1 Z3CXXC2,MGC78665 69.20853975 344892 MP:0005389
+chr3 MGC78665 0 ENSG00000198471 ENST00000358241 protein_coding KNOWN CCDS33911 None 678 225 187416047 187420345 -1 Z3CXXC2,RTP2 69.20853975 344892 MP:0005389
+chr3 None 0 ENSG00000228804 ENST00000449623 protein_coding PUTATIVE None None 390 129 187420101 187451637 1 None None None None
+chr3 None 0 ENSG00000228804 ENST00000437407 protein_coding PUTATIVE None None 153 50 187420154 187450203 1 None None None None
+chr3 ZNF51 0 ENSG00000113916 ENST00000406870 protein_coding KNOWN CCDS3289 None 2121 706 187439165 187463515 -1 LAZ3,BCL5,BCL6,ZBTB27,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 LAZ3 0 ENSG00000113916 ENST00000406870 protein_coding KNOWN CCDS3289 None 2121 706 187439165 187463515 -1 BCL5,ZNF51,BCL6,ZBTB27,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 BCL5 0 ENSG00000113916 ENST00000406870 protein_coding KNOWN CCDS3289 None 2121 706 187439165 187463515 -1 LAZ3,ZNF51,BCL6,ZBTB27,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 BCL6A 0 ENSG00000113916 ENST00000406870 protein_coding KNOWN CCDS3289 None 2121 706 187439165 187463515 -1 LAZ3,ZNF51,BCL6,BCL5,ZBTB27 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 BCL6 1 ENSG00000113916 ENST00000406870 protein_coding KNOWN CCDS3289 1001 2121 706 187439165 187463515 -1 LAZ3,ZNF51,ZBTB27,BCL5,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 ZBTB27 0 ENSG00000113916 ENST00000406870 protein_coding KNOWN CCDS3289 None 2121 706 187439165 187463515 -1 LAZ3,ZNF51,BCL6,BCL5,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 ZNF51 0 ENSG00000113916 ENST00000419510 nonsense_mediated_decay KNOWN None None 168 55 187439175 187454876 -1 LAZ3,BCL5,BCL6,ZBTB27,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 LAZ3 0 ENSG00000113916 ENST00000419510 nonsense_mediated_decay KNOWN None None 168 55 187439175 187454876 -1 BCL5,ZNF51,BCL6,ZBTB27,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 BCL5 0 ENSG00000113916 ENST00000419510 nonsense_mediated_decay KNOWN None None 168 55 187439175 187454876 -1 LAZ3,ZNF51,BCL6,ZBTB27,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 BCL6A 0 ENSG00000113916 ENST00000419510 nonsense_mediated_decay KNOWN None None 168 55 187439175 187454876 -1 LAZ3,ZNF51,BCL6,BCL5,ZBTB27 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 BCL6 1 ENSG00000113916 ENST00000419510 nonsense_mediated_decay KNOWN None 1001 168 55 187439175 187454876 -1 LAZ3,ZNF51,ZBTB27,BCL5,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 ZBTB27 0 ENSG00000113916 ENST00000419510 nonsense_mediated_decay KNOWN None None 168 55 187439175 187454876 -1 LAZ3,ZNF51,BCL6,BCL5,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 ZNF51 0 ENSG00000113916 ENST00000232014 protein_coding KNOWN CCDS3289 None 2121 706 187440186 187454357 -1 LAZ3,BCL5,BCL6,ZBTB27,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 LAZ3 0 ENSG00000113916 ENST00000232014 protein_coding KNOWN CCDS3289 None 2121 706 187440186 187454357 -1 BCL5,ZNF51,BCL6,ZBTB27,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 BCL5 0 ENSG00000113916 ENST00000232014 protein_coding KNOWN CCDS3289 None 2121 706 187440186 187454357 -1 LAZ3,ZNF51,BCL6,ZBTB27,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 BCL6A 0 ENSG00000113916 ENST00000232014 protein_coding KNOWN CCDS3289 None 2121 706 187440186 187454357 -1 LAZ3,ZNF51,BCL6,BCL5,ZBTB27 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 BCL6 1 ENSG00000113916 ENST00000232014 protein_coding KNOWN CCDS3289 1001 2121 706 187440186 187454357 -1 LAZ3,ZNF51,ZBTB27,BCL5,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 ZBTB27 0 ENSG00000113916 ENST00000232014 protein_coding KNOWN CCDS3289 None 2121 706 187440186 187454357 -1 LAZ3,ZNF51,BCL6,BCL5,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 ZNF51 0 ENSG00000113916 ENST00000450123 protein_coding NOVEL CCDS46975 None 1953 650 187440220 187452670 -1 LAZ3,BCL5,BCL6,ZBTB27,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 LAZ3 0 ENSG00000113916 ENST00000450123 protein_coding NOVEL CCDS46975 None 1953 650 187440220 187452670 -1 BCL5,ZNF51,BCL6,ZBTB27,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 BCL5 0 ENSG00000113916 ENST00000450123 protein_coding NOVEL CCDS46975 None 1953 650 187440220 187452670 -1 LAZ3,ZNF51,BCL6,ZBTB27,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 BCL6A 0 ENSG00000113916 ENST00000450123 protein_coding NOVEL CCDS46975 None 1953 650 187440220 187452670 -1 LAZ3,ZNF51,BCL6,BCL5,ZBTB27 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 BCL6 1 ENSG00000113916 ENST00000450123 protein_coding NOVEL CCDS46975 1001 1953 650 187440220 187452670 -1 LAZ3,ZNF51,ZBTB27,BCL5,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 ZBTB27 0 ENSG00000113916 ENST00000450123 protein_coding NOVEL CCDS46975 None 1953 650 187440220 187452670 -1 LAZ3,ZNF51,BCL6,BCL5,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 ZNF51 0 ENSG00000113916 ENST00000479110 retained_intron KNOWN None None None None 187442357 187443411 -1 LAZ3,BCL5,BCL6,ZBTB27,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 LAZ3 0 ENSG00000113916 ENST00000479110 retained_intron KNOWN None None None None 187442357 187443411 -1 BCL5,ZNF51,BCL6,ZBTB27,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 BCL5 0 ENSG00000113916 ENST00000479110 retained_intron KNOWN None None None None 187442357 187443411 -1 LAZ3,ZNF51,BCL6,ZBTB27,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 BCL6A 0 ENSG00000113916 ENST00000479110 retained_intron KNOWN None None None None 187442357 187443411 -1 LAZ3,ZNF51,BCL6,BCL5,ZBTB27 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 BCL6 1 ENSG00000113916 ENST00000479110 retained_intron KNOWN None 1001 None None 187442357 187443411 -1 LAZ3,ZNF51,ZBTB27,BCL5,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 ZBTB27 0 ENSG00000113916 ENST00000479110 retained_intron KNOWN None None None None 187442357 187443411 -1 LAZ3,ZNF51,BCL6,BCL5,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 ZNF51 0 ENSG00000113916 ENST00000430339 protein_coding KNOWN None None 365 120 187449515 187452735 -1 LAZ3,BCL5,BCL6,ZBTB27,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 LAZ3 0 ENSG00000113916 ENST00000430339 protein_coding KNOWN None None 365 120 187449515 187452735 -1 BCL5,ZNF51,BCL6,ZBTB27,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 BCL5 0 ENSG00000113916 ENST00000430339 protein_coding KNOWN None None 365 120 187449515 187452735 -1 LAZ3,ZNF51,BCL6,ZBTB27,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 BCL6A 0 ENSG00000113916 ENST00000430339 protein_coding KNOWN None None 365 120 187449515 187452735 -1 LAZ3,ZNF51,BCL6,BCL5,ZBTB27 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 BCL6 1 ENSG00000113916 ENST00000430339 protein_coding KNOWN None 1001 365 120 187449515 187452735 -1 LAZ3,ZNF51,ZBTB27,BCL5,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 ZBTB27 0 ENSG00000113916 ENST00000430339 protein_coding KNOWN None None 365 120 187449515 187452735 -1 LAZ3,ZNF51,BCL6,BCL5,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 ZNF51 0 ENSG00000113916 ENST00000480458 processed_transcript KNOWN None None None None 187449553 187463225 -1 LAZ3,BCL5,BCL6,ZBTB27,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 LAZ3 0 ENSG00000113916 ENST00000480458 processed_transcript KNOWN None None None None 187449553 187463225 -1 BCL5,ZNF51,BCL6,ZBTB27,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 BCL5 0 ENSG00000113916 ENST00000480458 processed_transcript KNOWN None None None None 187449553 187463225 -1 LAZ3,ZNF51,BCL6,ZBTB27,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 BCL6A 0 ENSG00000113916 ENST00000480458 processed_transcript KNOWN None None None None 187449553 187463225 -1 LAZ3,ZNF51,BCL6,BCL5,ZBTB27 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 BCL6 1 ENSG00000113916 ENST00000480458 processed_transcript KNOWN None 1001 None None 187449553 187463225 -1 LAZ3,ZNF51,ZBTB27,BCL5,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 ZBTB27 0 ENSG00000113916 ENST00000480458 processed_transcript KNOWN None None None None 187449553 187463225 -1 LAZ3,ZNF51,BCL6,BCL5,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 ZNF51 0 ENSG00000113916 ENST00000438077 protein_coding KNOWN None None 312 103 187449568 187455732 -1 LAZ3,BCL5,BCL6,ZBTB27,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 LAZ3 0 ENSG00000113916 ENST00000438077 protein_coding KNOWN None None 312 103 187449568 187455732 -1 BCL5,ZNF51,BCL6,ZBTB27,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 BCL5 0 ENSG00000113916 ENST00000438077 protein_coding KNOWN None None 312 103 187449568 187455732 -1 LAZ3,ZNF51,BCL6,ZBTB27,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 BCL6A 0 ENSG00000113916 ENST00000438077 protein_coding KNOWN None None 312 103 187449568 187455732 -1 LAZ3,ZNF51,BCL6,BCL5,ZBTB27 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 BCL6 1 ENSG00000113916 ENST00000438077 protein_coding KNOWN None 1001 312 103 187449568 187455732 -1 LAZ3,ZNF51,ZBTB27,BCL5,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 ZBTB27 0 ENSG00000113916 ENST00000438077 protein_coding KNOWN None None 312 103 187449568 187455732 -1 LAZ3,ZNF51,BCL6,BCL5,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 ZNF51 0 ENSG00000113916 ENST00000470319 retained_intron KNOWN None None None None 187452233 187463260 -1 LAZ3,BCL5,BCL6,ZBTB27,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 LAZ3 0 ENSG00000113916 ENST00000470319 retained_intron KNOWN None None None None 187452233 187463260 -1 BCL5,ZNF51,BCL6,ZBTB27,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 BCL5 0 ENSG00000113916 ENST00000470319 retained_intron KNOWN None None None None 187452233 187463260 -1 LAZ3,ZNF51,BCL6,ZBTB27,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 BCL6A 0 ENSG00000113916 ENST00000470319 retained_intron KNOWN None None None None 187452233 187463260 -1 LAZ3,ZNF51,BCL6,BCL5,ZBTB27 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 BCL6 1 ENSG00000113916 ENST00000470319 retained_intron KNOWN None 1001 None None 187452233 187463260 -1 LAZ3,ZNF51,ZBTB27,BCL5,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 ZBTB27 0 ENSG00000113916 ENST00000470319 retained_intron KNOWN None None None None 187452233 187463260 -1 LAZ3,ZNF51,BCL6,BCL5,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 ZNF51 0 ENSG00000113916 ENST00000496823 processed_transcript PUTATIVE None None None None 187453975 187463247 -1 LAZ3,BCL5,BCL6,ZBTB27,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 LAZ3 0 ENSG00000113916 ENST00000496823 processed_transcript PUTATIVE None None None None 187453975 187463247 -1 BCL5,ZNF51,BCL6,ZBTB27,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 BCL5 0 ENSG00000113916 ENST00000496823 processed_transcript PUTATIVE None None None None 187453975 187463247 -1 LAZ3,ZNF51,BCL6,ZBTB27,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 BCL6A 0 ENSG00000113916 ENST00000496823 processed_transcript PUTATIVE None None None None 187453975 187463247 -1 LAZ3,ZNF51,BCL6,BCL5,ZBTB27 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 BCL6 1 ENSG00000113916 ENST00000496823 processed_transcript PUTATIVE None 1001 None None 187453975 187463247 -1 LAZ3,ZNF51,ZBTB27,BCL5,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 ZBTB27 0 ENSG00000113916 ENST00000496823 processed_transcript PUTATIVE None None None None 187453975 187463247 -1 LAZ3,ZNF51,BCL6,BCL5,BCL6A 23.5727766 604 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
diff -r 1a30b31af89a -r 5fb59611125e test-data/test-cache/gemini/data/encode.6celltypes.consensus.bedg.gz
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diff -r 1a30b31af89a -r 5fb59611125e test-data/test-cache/gemini/data/genetic_map_HapMapII_GRCh37.gz
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diff -r 1a30b31af89a -r 5fb59611125e test-data/test-cache/gemini/data/kegg_pathways_ensembl66
--- /dev/null Thu Jan 01 00:00:00 1970 +0000
+++ b/test-data/test-cache/gemini/data/kegg_pathways_ensembl66 Fri Dec 14 12:34:23 2018 -0500
@@ -0,0 +1,30 @@
+B8PSA7 BCL6 BCL6 ENSG00000113916 ENST00000450123 None None
+C9J1C7 MASP1 MASP1 ENSG00000127241 ENST00000439271 None None
+C9JCS5 BCL6 BCL6 ENSG00000113916 ENST00000430339 None None
+C9JCS5 BCL6 BCL6 ENSG00000113916 ENST00000450123 None None
+C9JL16 BCL6 BCL6 ENSG00000113916 ENST00000430339 None None
+C9JL16 BCL6 BCL6 ENSG00000113916 ENST00000438077 None None
+C9JL16 BCL6 BCL6 ENSG00000113916 ENST00000450123 None None
+C9JLU5 MASP1 MASP1 ENSG00000127241 ENST00000169293 None None
+C9JLU5 MASP1 MASP1 ENSG00000127241 ENST00000296280 None None
+C9JLU5 MASP1 MASP1 ENSG00000127241 ENST00000392470 None None
+C9JLU5 MASP1 MASP1 ENSG00000127241 ENST00000392475 None None
+C9JLU5 MASP1 MASP1 ENSG00000127241 ENST00000425937 None None
+C9JLU5 MASP1 MASP1 ENSG00000127241 ENST00000439271 None None
+C9JMA2 MASP1 MASP1 ENSG00000127241 ENST00000392475 None None
+F5H2J0 MASP1 MASP1 ENSG00000127241 ENST00000541896 None None
+F8W876 MASP1 MASP1 ENSG00000127241 ENST00000169293 None None
+F8W876 MASP1 MASP1 ENSG00000127241 ENST00000392470 None None
+P41182 BCL6 BCL6 ENSG00000113916 ENST00000232014 hsa:604 path:hsa05202;Transcriptional_misregulation_in_cancer
+P41182 BCL6 BCL6 ENSG00000113916 ENST00000406870 hsa:604 path:hsa05202;Transcriptional_misregulation_in_cancer
+P48740 MASP1 MASP1 ENSG00000127241 ENST00000337774 hsa:5648 path:hsa04610;Complement_and_coagulation_cascades
+P48740 MASP1 MASP1 ENSG00000127241 ENST00000337774 hsa:5648 path:hsa05150;Staphylococcus_aureus_infection
+P61278 SST SST ENSG00000157005 ENST00000287641 hsa:6750 path:hsa04080;Neuroactive_ligand_receptor_interaction
+P61278 SST SST ENSG00000157005 ENST00000287641 hsa:6750 path:hsa04971;Gastric_acid_secretion
+Q5HYM1 MASP1 MASP1 ENSG00000127241 ENST00000541896 None None
+Q5QGT7 RTP2 RTP2 ENSG00000198471 ENST00000358241 hsa:344892 None
+Q96DX8 RTP4 RTP4 ENSG00000136514 ENST00000259030 hsa:64108 None
+Q9NSY8 MASP1 MASP1 ENSG00000127241 ENST00000296280 None None
+Q9NSY8 MASP1 MASP1 ENSG00000127241 ENST00000392472 None None
+Q9NSY8 MASP1 MASP1 ENSG00000127241 ENST00000541811 None None
+none BCL6 BCL6 ENSG00000113916 ENST00000419510 None None
diff -r 1a30b31af89a -r 5fb59611125e test-data/test-cache/gemini/data/kegg_pathways_ensembl67
--- /dev/null Thu Jan 01 00:00:00 1970 +0000
+++ b/test-data/test-cache/gemini/data/kegg_pathways_ensembl67 Fri Dec 14 12:34:23 2018 -0500
@@ -0,0 +1,30 @@
+B8PSA7 BCL6 BCL6 ENSG00000113916 ENST00000450123 None None
+C9J1C7 MASP1 MASP1 ENSG00000127241 ENST00000439271 None None
+C9JCS5 BCL6 BCL6 ENSG00000113916 ENST00000430339 None None
+C9JCS5 BCL6 BCL6 ENSG00000113916 ENST00000450123 None None
+C9JL16 BCL6 BCL6 ENSG00000113916 ENST00000430339 None None
+C9JL16 BCL6 BCL6 ENSG00000113916 ENST00000438077 None None
+C9JL16 BCL6 BCL6 ENSG00000113916 ENST00000450123 None None
+C9JLU5 MASP1 MASP1 ENSG00000127241 ENST00000169293 None None
+C9JLU5 MASP1 MASP1 ENSG00000127241 ENST00000296280 None None
+C9JLU5 MASP1 MASP1 ENSG00000127241 ENST00000392470 None None
+C9JLU5 MASP1 MASP1 ENSG00000127241 ENST00000392475 None None
+C9JLU5 MASP1 MASP1 ENSG00000127241 ENST00000425937 None None
+C9JLU5 MASP1 MASP1 ENSG00000127241 ENST00000439271 None None
+C9JMA2 MASP1 MASP1 ENSG00000127241 ENST00000392475 None None
+F5H2J0 MASP1 MASP1 ENSG00000127241 ENST00000541896 None None
+F8W876 MASP1 MASP1 ENSG00000127241 ENST00000169293 None None
+F8W876 MASP1 MASP1 ENSG00000127241 ENST00000392470 None None
+P41182 BCL6 BCL6 ENSG00000113916 ENST00000232014 hsa:604 path:hsa05202;Transcriptional_misregulation_in_cancer
+P41182 BCL6 BCL6 ENSG00000113916 ENST00000406870 hsa:604 path:hsa05202;Transcriptional_misregulation_in_cancer
+P48740 MASP1 MASP1 ENSG00000127241 ENST00000337774 hsa:5648 path:hsa04610;Complement_and_coagulation_cascades
+P48740 MASP1 MASP1 ENSG00000127241 ENST00000337774 hsa:5648 path:hsa05150;Staphylococcus_aureus_infection
+P61278 SST SST ENSG00000157005 ENST00000287641 hsa:6750 path:hsa04080;Neuroactive_ligand_receptor_interaction
+P61278 SST SST ENSG00000157005 ENST00000287641 hsa:6750 path:hsa04971;Gastric_acid_secretion
+Q5HYM1 MASP1 MASP1 ENSG00000127241 ENST00000541896 None None
+Q5QGT7 RTP2 RTP2 ENSG00000198471 ENST00000358241 hsa:344892 None
+Q96DX8 RTP4 RTP4 ENSG00000136514 ENST00000259030 hsa:64108 None
+Q9NSY8 MASP1 MASP1 ENSG00000127241 ENST00000296280 None None
+Q9NSY8 MASP1 MASP1 ENSG00000127241 ENST00000392472 None None
+Q9NSY8 MASP1 MASP1 ENSG00000127241 ENST00000541811 None None
+none BCL6 BCL6 ENSG00000113916 ENST00000419510 None None
diff -r 1a30b31af89a -r 5fb59611125e test-data/test-cache/gemini/data/kegg_pathways_ensembl68
--- /dev/null Thu Jan 01 00:00:00 1970 +0000
+++ b/test-data/test-cache/gemini/data/kegg_pathways_ensembl68 Fri Dec 14 12:34:23 2018 -0500
@@ -0,0 +1,26 @@
+C9J1C7 MASP1 MASP1 ENSG00000127241 ENST00000439271 None None
+C9JCS5 BCL6 BCL6 ENSG00000113916 ENST00000430339 None None
+C9JL16 BCL6 BCL6 ENSG00000113916 ENST00000430339 None None
+C9JL16 BCL6 BCL6 ENSG00000113916 ENST00000438077 None None
+C9JLU5 MASP1 MASP1 ENSG00000127241 ENST00000392470 None None
+C9JLU5 MASP1 MASP1 ENSG00000127241 ENST00000392475 None None
+C9JLU5 MASP1 MASP1 ENSG00000127241 ENST00000425937 None None
+C9JLU5 MASP1 MASP1 ENSG00000127241 ENST00000439271 None None
+C9JMA2 MASP1 MASP1 ENSG00000127241 ENST00000392475 None None
+F8W876 MASP1 MASP1 ENSG00000127241 ENST00000392470 None None
+P41182 BCL6 BCL6 ENSG00000113916 ENST00000232014 hsa:604 path:hsa05202;Transcriptional_misregulation_in_cancer
+P41182 BCL6 BCL6 ENSG00000113916 ENST00000406870 hsa:604 path:hsa05202;Transcriptional_misregulation_in_cancer
+P41182 BCL6 BCL6 ENSG00000113916 ENST00000450123 hsa:604 path:hsa05202;Transcriptional_misregulation_in_cancer
+P48740 MASP1 MASP1 ENSG00000127241 ENST00000169293 hsa:5648 path:hsa04610;Complement_and_coagulation_cascades
+P48740 MASP1 MASP1 ENSG00000127241 ENST00000169293 hsa:5648 path:hsa05150;Staphylococcus_aureus_infection
+P48740 MASP1 MASP1 ENSG00000127241 ENST00000296280 hsa:5648 path:hsa04610;Complement_and_coagulation_cascades
+P48740 MASP1 MASP1 ENSG00000127241 ENST00000296280 hsa:5648 path:hsa05150;Staphylococcus_aureus_infection
+P48740 MASP1 MASP1 ENSG00000127241 ENST00000337774 hsa:5648 path:hsa04610;Complement_and_coagulation_cascades
+P48740 MASP1 MASP1 ENSG00000127241 ENST00000337774 hsa:5648 path:hsa05150;Staphylococcus_aureus_infection
+P48740 MASP1 MASP1 ENSG00000127241 ENST00000392472 hsa:5648 path:hsa04610;Complement_and_coagulation_cascades
+P48740 MASP1 MASP1 ENSG00000127241 ENST00000392472 hsa:5648 path:hsa05150;Staphylococcus_aureus_infection
+P61278 SST SST ENSG00000157005 ENST00000287641 hsa:6750 path:hsa04080;Neuroactive_ligand_receptor_interaction
+P61278 SST SST ENSG00000157005 ENST00000287641 hsa:6750 path:hsa04971;Gastric_acid_secretion
+Q5QGT7 RTP2 RTP2 ENSG00000198471 ENST00000358241 hsa:344892 None
+Q96DX8 RTP4 RTP4 ENSG00000136514 ENST00000259030 hsa:64108 None
+none BCL6 BCL6 ENSG00000113916 ENST00000419510 None None
diff -r 1a30b31af89a -r 5fb59611125e test-data/test-cache/gemini/data/kegg_pathways_ensembl69
--- /dev/null Thu Jan 01 00:00:00 1970 +0000
+++ b/test-data/test-cache/gemini/data/kegg_pathways_ensembl69 Fri Dec 14 12:34:23 2018 -0500
@@ -0,0 +1,26 @@
+C9J1C7 MASP1 MASP1 ENSG00000127241 ENST00000439271 None None
+C9JCS5 BCL6 BCL6 ENSG00000113916 ENST00000430339 None None
+C9JL16 BCL6 BCL6 ENSG00000113916 ENST00000430339 None None
+C9JL16 BCL6 BCL6 ENSG00000113916 ENST00000438077 None None
+C9JLU5 MASP1 MASP1 ENSG00000127241 ENST00000392470 None None
+C9JLU5 MASP1 MASP1 ENSG00000127241 ENST00000392475 None None
+C9JLU5 MASP1 MASP1 ENSG00000127241 ENST00000425937 None None
+C9JLU5 MASP1 MASP1 ENSG00000127241 ENST00000439271 None None
+C9JMA2 MASP1 MASP1 ENSG00000127241 ENST00000392475 None None
+F8W876 MASP1 MASP1 ENSG00000127241 ENST00000392470 None None
+P41182 BCL6 BCL6 ENSG00000113916 ENST00000232014 hsa:604 path:hsa05202;Transcriptional_misregulation_in_cancer
+P41182 BCL6 BCL6 ENSG00000113916 ENST00000406870 hsa:604 path:hsa05202;Transcriptional_misregulation_in_cancer
+P41182 BCL6 BCL6 ENSG00000113916 ENST00000450123 hsa:604 path:hsa05202;Transcriptional_misregulation_in_cancer
+P48740 MASP1 MASP1 ENSG00000127241 ENST00000169293 hsa:5648 path:hsa04610;Complement_and_coagulation_cascades
+P48740 MASP1 MASP1 ENSG00000127241 ENST00000169293 hsa:5648 path:hsa05150;Staphylococcus_aureus_infection
+P48740 MASP1 MASP1 ENSG00000127241 ENST00000296280 hsa:5648 path:hsa04610;Complement_and_coagulation_cascades
+P48740 MASP1 MASP1 ENSG00000127241 ENST00000296280 hsa:5648 path:hsa05150;Staphylococcus_aureus_infection
+P48740 MASP1 MASP1 ENSG00000127241 ENST00000337774 hsa:5648 path:hsa04610;Complement_and_coagulation_cascades
+P48740 MASP1 MASP1 ENSG00000127241 ENST00000337774 hsa:5648 path:hsa05150;Staphylococcus_aureus_infection
+P48740 MASP1 MASP1 ENSG00000127241 ENST00000392472 hsa:5648 path:hsa04610;Complement_and_coagulation_cascades
+P48740 MASP1 MASP1 ENSG00000127241 ENST00000392472 hsa:5648 path:hsa05150;Staphylococcus_aureus_infection
+P61278 SST SST ENSG00000157005 ENST00000287641 hsa:6750 path:hsa04080;Neuroactive_ligand_receptor_interaction
+P61278 SST SST ENSG00000157005 ENST00000287641 hsa:6750 path:hsa04971;Gastric_acid_secretion
+Q5QGT7 RTP2 RTP2 ENSG00000198471 ENST00000358241 hsa:344892 None
+Q96DX8 RTP4 RTP4 ENSG00000136514 ENST00000259030 hsa:64108 None
+none BCL6 BCL6 ENSG00000113916 ENST00000419510 None None
diff -r 1a30b31af89a -r 5fb59611125e test-data/test-cache/gemini/data/kegg_pathways_ensembl70
--- /dev/null Thu Jan 01 00:00:00 1970 +0000
+++ b/test-data/test-cache/gemini/data/kegg_pathways_ensembl70 Fri Dec 14 12:34:23 2018 -0500
@@ -0,0 +1,25 @@
+C9J1C7 MASP1 MASP1 ENSG00000127241 ENST00000439271 None None
+C9JL16 BCL6 BCL6 ENSG00000113916 ENST00000430339 None None
+C9JL16 BCL6 BCL6 ENSG00000113916 ENST00000438077 None None
+C9JLU5 MASP1 MASP1 ENSG00000127241 ENST00000392470 None None
+C9JLU5 MASP1 MASP1 ENSG00000127241 ENST00000392475 None None
+C9JLU5 MASP1 MASP1 ENSG00000127241 ENST00000425937 None None
+C9JLU5 MASP1 MASP1 ENSG00000127241 ENST00000439271 None None
+C9JMA2 MASP1 MASP1 ENSG00000127241 ENST00000392475 None None
+F8W876 MASP1 MASP1 ENSG00000127241 ENST00000392470 None None
+P41182 BCL6 BCL6 ENSG00000113916 ENST00000232014 hsa:604 path:hsa05202;Transcriptional_misregulation_in_cancer
+P41182 BCL6 BCL6 ENSG00000113916 ENST00000406870 hsa:604 path:hsa05202;Transcriptional_misregulation_in_cancer
+P41182 BCL6 BCL6 ENSG00000113916 ENST00000450123 hsa:604 path:hsa05202;Transcriptional_misregulation_in_cancer
+P48740 MASP1 MASP1 ENSG00000127241 ENST00000169293 hsa:5648 path:hsa04610;Complement_and_coagulation_cascades
+P48740 MASP1 MASP1 ENSG00000127241 ENST00000169293 hsa:5648 path:hsa05150;Staphylococcus_aureus_infection
+P48740 MASP1 MASP1 ENSG00000127241 ENST00000296280 hsa:5648 path:hsa04610;Complement_and_coagulation_cascades
+P48740 MASP1 MASP1 ENSG00000127241 ENST00000296280 hsa:5648 path:hsa05150;Staphylococcus_aureus_infection
+P48740 MASP1 MASP1 ENSG00000127241 ENST00000337774 hsa:5648 path:hsa04610;Complement_and_coagulation_cascades
+P48740 MASP1 MASP1 ENSG00000127241 ENST00000337774 hsa:5648 path:hsa05150;Staphylococcus_aureus_infection
+P48740 MASP1 MASP1 ENSG00000127241 ENST00000392472 hsa:5648 path:hsa04610;Complement_and_coagulation_cascades
+P48740 MASP1 MASP1 ENSG00000127241 ENST00000392472 hsa:5648 path:hsa05150;Staphylococcus_aureus_infection
+P61278 SST SST ENSG00000157005 ENST00000287641 hsa:6750 path:hsa04080;Neuroactive_ligand_receptor_interaction
+P61278 SST SST ENSG00000157005 ENST00000287641 hsa:6750 path:hsa04971;Gastric_acid_secretion
+Q5QGT7 RTP2 RTP2 ENSG00000198471 ENST00000358241 hsa:344892 None
+Q96DX8 RTP4 RTP4 ENSG00000136514 ENST00000259030 hsa:64108 None
+none BCL6 BCL6 ENSG00000113916 ENST00000419510 None None
diff -r 1a30b31af89a -r 5fb59611125e test-data/test-cache/gemini/data/kegg_pathways_ensembl71
--- /dev/null Thu Jan 01 00:00:00 1970 +0000
+++ b/test-data/test-cache/gemini/data/kegg_pathways_ensembl71 Fri Dec 14 12:34:23 2018 -0500
@@ -0,0 +1,26 @@
+C9J1C7 MASP1 MASP1 ENSG00000127241 ENST00000439271 None None
+C9JCS5 BCL6 BCL6 ENSG00000113916 ENST00000430339 None None
+C9JL16 BCL6 BCL6 ENSG00000113916 ENST00000430339 None None
+C9JL16 BCL6 BCL6 ENSG00000113916 ENST00000438077 None None
+C9JLU5 MASP1 MASP1 ENSG00000127241 ENST00000392470 None None
+C9JLU5 MASP1 MASP1 ENSG00000127241 ENST00000392475 None None
+C9JLU5 MASP1 MASP1 ENSG00000127241 ENST00000425937 None None
+C9JLU5 MASP1 MASP1 ENSG00000127241 ENST00000439271 None None
+C9JMA2 MASP1 MASP1 ENSG00000127241 ENST00000392475 None None
+F8W876 MASP1 MASP1 ENSG00000127241 ENST00000392470 None None
+P41182 BCL6 BCL6 ENSG00000113916 ENST00000232014 hsa:604 path:hsa05202;Transcriptional_misregulation_in_cancer
+P41182 BCL6 BCL6 ENSG00000113916 ENST00000406870 hsa:604 path:hsa05202;Transcriptional_misregulation_in_cancer
+P41182 BCL6 BCL6 ENSG00000113916 ENST00000450123 hsa:604 path:hsa05202;Transcriptional_misregulation_in_cancer
+P48740 MASP1 MASP1 ENSG00000127241 ENST00000169293 hsa:5648 path:hsa04610;Complement_and_coagulation_cascades
+P48740 MASP1 MASP1 ENSG00000127241 ENST00000169293 hsa:5648 path:hsa05150;Staphylococcus_aureus_infection
+P48740 MASP1 MASP1 ENSG00000127241 ENST00000296280 hsa:5648 path:hsa04610;Complement_and_coagulation_cascades
+P48740 MASP1 MASP1 ENSG00000127241 ENST00000296280 hsa:5648 path:hsa05150;Staphylococcus_aureus_infection
+P48740 MASP1 MASP1 ENSG00000127241 ENST00000337774 hsa:5648 path:hsa04610;Complement_and_coagulation_cascades
+P48740 MASP1 MASP1 ENSG00000127241 ENST00000337774 hsa:5648 path:hsa05150;Staphylococcus_aureus_infection
+P48740 MASP1 MASP1 ENSG00000127241 ENST00000392472 hsa:5648 path:hsa04610;Complement_and_coagulation_cascades
+P48740 MASP1 MASP1 ENSG00000127241 ENST00000392472 hsa:5648 path:hsa05150;Staphylococcus_aureus_infection
+P61278 SST SST ENSG00000157005 ENST00000287641 hsa:6750 path:hsa04080;Neuroactive_ligand_receptor_interaction
+P61278 SST SST ENSG00000157005 ENST00000287641 hsa:6750 path:hsa04971;Gastric_acid_secretion
+Q5QGT7 RTP2 RTP2 ENSG00000198471 ENST00000358241 hsa:344892 None
+Q96DX8 RTP4 RTP4 ENSG00000136514 ENST00000259030 hsa:64108 None
+none BCL6 BCL6 ENSG00000113916 ENST00000419510 None None
diff -r 1a30b31af89a -r 5fb59611125e test-data/test-cache/gemini/data/stam.125cells.dnaseI.hg19.bed.gz
Binary file test-data/test-cache/gemini/data/stam.125cells.dnaseI.hg19.bed.gz has changed
diff -r 1a30b31af89a -r 5fb59611125e test-data/test-cache/gemini/data/stam.125cells.dnaseI.hg19.bed.gz.tbi
Binary file test-data/test-cache/gemini/data/stam.125cells.dnaseI.hg19.bed.gz.tbi has changed
diff -r 1a30b31af89a -r 5fb59611125e test-data/test-cache/gemini/data/summary_gene_table_v75
--- /dev/null Thu Jan 01 00:00:00 1970 +0000
+++ b/test-data/test-cache/gemini/data/summary_gene_table_v75 Fri Dec 14 12:34:23 2018 -0500
@@ -0,0 +1,23 @@
+Chromosome Gene_name Is_hgnc Ensembl_gene_id HGNC_id Synonyms Rvis_pct Strand Transcript_min_start Transcript_max_end Mammalian_phenotype_id
+chr3 None 0 ENSG00000239093 None None None 1 187141103 187141207 None
+chr3 None 0 ENSG00000228952 None None None 1 187166633 187167238 None
+chr3 None 0 ENSG00000223401 None None None 1 187461474 187463208 None
+chr3 MASP 0 ENSG00000127241 None PRSS5,MASP1,CRARF 16.8141071 -1 186935942 187009810 None
+chr3 PRSS5 0 ENSG00000127241 None MASP1,CRARF,MASP 16.8141071 -1 186935942 187009810 None
+chr3 MASP1 1 ENSG00000127241 6901 PRSS5,CRARF,MASP 16.8141071 -1 186935942 187009810 None
+chr3 CRARF 0 ENSG00000127241 None PRSS5,MASP1,MASP 16.8141071 -1 186935942 187009810 None
+chr3 IFRG28 0 ENSG00000136514 None RTP4,Z3CXXC4 94.35008257 1 187086120 187089864 None
+chr3 RTP4 1 ENSG00000136514 23992 IFRG28,Z3CXXC4 94.35008257 1 187086120 187089864 None
+chr3 Z3CXXC4 0 ENSG00000136514 None IFRG28,RTP4 94.35008257 1 187086120 187089864 None
+chr3 SST 1 ENSG00000157005 11329 SMST 78.16112291 -1 187386694 187388187 MP:0002873,MP:0005386,MP:0005376,MP:0005381,MP:0003631,MP:0005378
+chr3 SMST 0 ENSG00000157005 None SST 78.16112291 -1 187386694 187388187 MP:0002873,MP:0005386,MP:0005376,MP:0005381,MP:0003631,MP:0005378
+chr3 Z3CXXC2 0 ENSG00000198471 None RTP2,MGC78665 69.20853975 -1 187416047 187420345 MP:0005389
+chr3 RTP2 1 ENSG00000198471 32486 Z3CXXC2,MGC78665 69.20853975 -1 187416047 187420345 MP:0005389
+chr3 MGC78665 0 ENSG00000198471 None Z3CXXC2,RTP2 69.20853975 -1 187416047 187420345 MP:0005389
+chr3 None 0 ENSG00000228804 None None None 1 187420101 187451637 None
+chr3 ZNF51 0 ENSG00000113916 None LAZ3,BCL5,BCL6,ZBTB27,BCL6A 23.5727766 -1 187439165 187463515 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 LAZ3 0 ENSG00000113916 None BCL5,ZNF51,BCL6,ZBTB27,BCL6A 23.5727766 -1 187439165 187463515 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 BCL5 0 ENSG00000113916 None LAZ3,ZNF51,BCL6,ZBTB27,BCL6A 23.5727766 -1 187439165 187463515 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 BCL6A 0 ENSG00000113916 None LAZ3,ZNF51,BCL6,BCL5,ZBTB27 23.5727766 -1 187439165 187463515 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 BCL6 1 ENSG00000113916 1001 LAZ3,ZNF51,ZBTB27,BCL5,BCL6A 23.5727766 -1 187439165 187463515 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
+chr3 ZBTB27 0 ENSG00000113916 None LAZ3,ZNF51,BCL6,BCL5,BCL6A 23.5727766 -1 187439165 187463515 MP:0005369,MP:0005384,MP:0005376,MP:0005388,MP:0005370,MP:0010768,MP:0002873,MP:0005389,MP:0005378,MP:0005397,MP:0005385,MP:0005387
diff -r 1a30b31af89a -r 5fb59611125e test-data/test-cache/gemini/data/wgEncodeRegTfbsClusteredV2.cell_count.20130213.bed.gz
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diff -r 1a30b31af89a -r 5fb59611125e test-data/util/README.rst
--- /dev/null Thu Jan 01 00:00:00 1970 +0000
+++ b/test-data/util/README.rst Fri Dec 14 12:34:23 2018 -0500
@@ -0,0 +1,25 @@
+Prepare Gemini annotation files and test databases for tool tests
+=================================================================
+
+Each version of GEMINI is tied to a particular set of annotation files and
+database version.
+
+The ``build-gemini-testdata.sh`` script in this folder should be used to
+regenerate the annotation files and the test databases whenever the GEMINI
+version required by the tool wrappers gets upgraded.
+
+The script requires a working GEMINI installation at the targeted version and
+a folder with GEMINI's original annotation files, and can be executed with::
+
+ sh build-gemini-testdata.sh path/to/gemini/annotation/files
+
+It will regenerate the annotation files inside test-data/test-cache/gemini/data
+and rebuild the *.db files in test-data.
+
+.. Note::
+
+ If the version of GEMINI that you are upgrading to uses a gemini-config.yaml
+ file that is different from the one found in test-data/test-cache you will
+ have to upgrade this file manually (make sure you leave the line
+ ``annotation_dir: gemini/data`` unchanged in the process).
+
diff -r 1a30b31af89a -r 5fb59611125e test-data/util/build-data/anno.bed
--- /dev/null Thu Jan 01 00:00:00 1970 +0000
+++ b/test-data/util/build-data/anno.bed Fri Dec 14 12:34:23 2018 -0500
@@ -0,0 +1,3 @@
+chr3 187000000 187150000
+chr3 187150000 187300000
+chr3 187300000 187450000
diff -r 1a30b31af89a -r 5fb59611125e test-data/util/build-data/anno.bed.gz
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diff -r 1a30b31af89a -r 5fb59611125e test-data/util/build-data/gemini_load_input.vcf
--- /dev/null Thu Jan 01 00:00:00 1970 +0000
+++ b/test-data/util/build-data/gemini_load_input.vcf Fri Dec 14 12:34:23 2018 -0500
@@ -0,0 +1,70 @@
+##fileformat=VCFv4.1
+##INFO=
+##INFO=
+##INFO=
+##INFO=
+##INFO=
+##INFO=
+##INFO=
+##INFO=
+##INFO=
+##INFO=
+##INFO=
+##INFO=
+##INFO=
+##INFO=
+##ALT=
+##FORMAT=
+##FORMAT=
+##FORMAT=
+##INFO=
+##INFO=
+##INFO=
+##INFO=
+##INFO=
+##INFO=
+##INFO=
+##INFO=
+##reference=GRCh37
+##SnpEffVersion="SnpEff 3.0f (build 2012-08-23), by Pablo Cingolani"
+##SnpEffCmd="SnpEff GRCh37.66 -i vcf -o vcf -c /Users/arq5x/src/other/snpEff_3_0/snpEff.config ALL.wgs.integrated_phase1_v3.20101123.snps_indels_sv.sites.vcf.gz "
+##INFO=
+#CHROM POS ID REF ALT QUAL FILTER INFO
+1 10583 rs58108140 G A 100.0 PASS AVGPOST=0.7707;RSQ=0.4319;LDAF=0.2327;ERATE=0.0161;AN=2184;VT=SNP;AA=.;THETA=0.0046;AC=314;SNPSOURCE=LOWCOV;AF=0.14;ASN_AF=0.13;AMR_AF=0.17;AFR_AF=0.04;EUR_AF=0.21;EFF=DOWNSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000423562|),DOWNSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000438504|),DOWNSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000488147|),DOWNSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000538476|),DOWNSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000541675|),UPSTREAM(MODIFIER|||||DDX11L1|processed_transcript|NON_CODING|ENST00000456328|),UPSTREAM(MODIFIER|||||DDX11L1|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000450305|),UPSTREAM(MODIFIER|||||DDX11L1|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000515242|),UPSTREAM(MODIFIER|||||DDX11L1|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000518655|)
+1 10611 rs189107123 C G 100.0 PASS AN=2184;THETA=0.0077;VT=SNP;AA=.;AC=41;ERATE=0.0048;SNPSOURCE=LOWCOV;AVGPOST=0.9330;LDAF=0.0479;RSQ=0.3475;AF=0.02;ASN_AF=0.01;AMR_AF=0.03;AFR_AF=0.01;EUR_AF=0.02;EFF=DOWNSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000423562|),DOWNSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000438504|),DOWNSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000488147|),DOWNSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000538476|),DOWNSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000541675|),UPSTREAM(MODIFIER|||||DDX11L1|processed_transcript|NON_CODING|ENST00000456328|),UPSTREAM(MODIFIER|||||DDX11L1|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000450305|),UPSTREAM(MODIFIER|||||DDX11L1|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000515242|),UPSTREAM(MODIFIER|||||DDX11L1|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000518655|)
+1 13302 rs180734498 C T 100.0 PASS THETA=0.0048;AN=2184;AC=249;VT=SNP;AA=.;RSQ=0.6281;LDAF=0.1573;SNPSOURCE=LOWCOV;AVGPOST=0.8895;ERATE=0.0058;AF=0.11;ASN_AF=0.02;AMR_AF=0.08;AFR_AF=0.21;EUR_AF=0.14;EFF=DOWNSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000423562|),DOWNSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000430492|),DOWNSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000438504|),DOWNSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000488147|),DOWNSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000537342|),DOWNSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000538476|),DOWNSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000541675|),EXON(MODIFIER||||209|DDX11L1|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000450305|),EXON(MODIFIER||||550|DDX11L1|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000515242|),EXON(MODIFIER||||551|DDX11L1|processed_transcript|NON_CODING|ENST00000456328|),INTRON(MODIFIER||||493|DDX11L1|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000518655|)
+1 13327 rs144762171 G C 100.0 PASS AVGPOST=0.9698;AN=2184;VT=SNP;AA=.;RSQ=0.6482;AC=59;SNPSOURCE=LOWCOV;ERATE=0.0012;LDAF=0.0359;THETA=0.0204;AF=0.03;ASN_AF=0.02;AMR_AF=0.03;AFR_AF=0.02;EUR_AF=0.04;EFF=DOWNSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000423562|),DOWNSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000430492|),DOWNSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000438504|),DOWNSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000488147|),DOWNSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000537342|),DOWNSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000538476|),DOWNSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000541675|),EXON(MODIFIER||||209|DDX11L1|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000450305|),EXON(MODIFIER||||550|DDX11L1|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000515242|),EXON(MODIFIER||||551|DDX11L1|processed_transcript|NON_CODING|ENST00000456328|),INTRON(MODIFIER||||493|DDX11L1|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000518655|)
+1 13957 . TC T 28.0 PASS AA=TC;AC=35;AN=2184;VT=INDEL;AVGPOST=0.8711;RSQ=0.2501;LDAF=0.0788;THETA=0.0100;ERATE=0.0065;AF=0.02;ASN_AF=0.01;AMR_AF=0.02;AFR_AF=0.02;EUR_AF=0.02;EFF=DOWNSTREAM(MODIFIER|||||DDX11L1|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000450305|),DOWNSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000423562|),DOWNSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000430492|),DOWNSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000438504|),DOWNSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000488147|),DOWNSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000537342|),DOWNSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000538476|),DOWNSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000541675|),EXON(MODIFIER||||493|DDX11L1|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000518655|),EXON(MODIFIER||||550|DDX11L1|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000515242|),EXON(MODIFIER||||551|DDX11L1|processed_transcript|NON_CODING|ENST00000456328|)
+1 13980 rs151276478 T C 100.0 PASS AN=2184;AC=45;ERATE=0.0034;THETA=0.0139;RSQ=0.3603;LDAF=0.0525;VT=SNP;AA=.;AVGPOST=0.9221;SNPSOURCE=LOWCOV;AF=0.02;ASN_AF=0.02;AMR_AF=0.02;AFR_AF=0.01;EUR_AF=0.02;EFF=DOWNSTREAM(MODIFIER|||||DDX11L1|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000450305|),DOWNSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000423562|),DOWNSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000430492|),DOWNSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000438504|),DOWNSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000488147|),DOWNSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000537342|),DOWNSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000538476|),DOWNSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000541675|),EXON(MODIFIER||||493|DDX11L1|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000518655|),EXON(MODIFIER||||550|DDX11L1|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000515242|),EXON(MODIFIER||||551|DDX11L1|processed_transcript|NON_CODING|ENST00000456328|)
+1 30923 rs140337953 G T 100.0 PASS AC=1584;AA=T;AN=2184;RSQ=0.5481;VT=SNP;THETA=0.0162;SNPSOURCE=LOWCOV;ERATE=0.0183;LDAF=0.6576;AVGPOST=0.7335;AF=0.73;ASN_AF=0.89;AMR_AF=0.80;AFR_AF=0.48;EUR_AF=0.73;EFF=DOWNSTREAM(MODIFIER|||||FAM138A|processed_transcript|CODING|ENST00000461467|),DOWNSTREAM(MODIFIER|||||FAM138A|protein_coding|CODING|ENST00000417324|),DOWNSTREAM(MODIFIER|||||MIR1302-10|miRNA|NON_CODING|ENST00000408384|),INTRON(MODIFIER||||177|MIR1302-10|antisense|NON_CODING|ENST00000469289|),INTRON(MODIFIER||||236|MIR1302-10|antisense|NON_CODING|ENST00000473358|),UPSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000423562|),UPSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000430492|),UPSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000438504|),UPSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000488147|),UPSTREAM(MODIFIER|||||WASH7P|unprocessed_pseudogene|NON_CODING|ENST00000538476|)
+1 46402 . C CTGT 31.0 PASS AA=.;RSQ=0.0960;AN=2184;AC=8;VT=INDEL;AVGPOST=0.8325;THETA=0.0121;ERATE=0.0072;LDAF=0.0903;AF=0.0037;ASN_AF=0.0017;AFR_AF=0.01;EFF=INTERGENIC(MODIFIER|||||||||)
+1 47190 . G GA 192.0 PASS AA=G;AVGPOST=0.9041;AN=2184;AC=29;VT=INDEL;LDAF=0.0628;THETA=0.0153;RSQ=0.2883;ERATE=0.0041;AF=0.01;AMR_AF=0.0028;AFR_AF=0.06;EFF=INTERGENIC(MODIFIER|||||||||)
+1 51476 rs187298206 T C 100.0 PASS ERATE=0.0021;AA=C;AC=18;AN=2184;VT=SNP;THETA=0.0103;LDAF=0.0157;SNPSOURCE=LOWCOV;AVGPOST=0.9819;RSQ=0.5258;AF=0.01;ASN_AF=0.01;AMR_AF=0.01;AFR_AF=0.01;EUR_AF=0.01;EFF=INTERGENIC(MODIFIER|||||||||)
+1 51479 rs116400033 T A 100.0 PASS RSQ=0.7414;AVGPOST=0.9085;AA=T;AN=2184;THETA=0.0131;AC=235;VT=SNP;LDAF=0.1404;SNPSOURCE=LOWCOV;ERATE=0.0012;AF=0.11;ASN_AF=0.0035;AMR_AF=0.16;AFR_AF=0.03;EUR_AF=0.22;EFF=INTERGENIC(MODIFIER|||||||||)
+1 51914 rs190452223 T G 100.0 PASS ERATE=0.0004;AVGPOST=0.9985;THETA=0.0159;AA=T;AN=2184;VT=SNP;SNPSOURCE=LOWCOV;AC=1;RSQ=0.4089;LDAF=0.0012;AF=0.0005;ASN_AF=0.0017;EFF=INTERGENIC(MODIFIER|||||||||)
+1 51935 rs181754315 C T 100.0 PASS THETA=0.0126;AA=C;AN=2184;RSQ=0.1888;AVGPOST=0.9972;LDAF=0.0015;VT=SNP;AC=0;SNPSOURCE=LOWCOV;ERATE=0.0006;AF=0;EFF=INTERGENIC(MODIFIER|||||||||)
+1 51954 rs185832753 G C 100.0 PASS LDAF=0.0021;AA=G;AN=2184;RSQ=0.4692;AVGPOST=0.9975;VT=SNP;SNPSOURCE=LOWCOV;THETA=0.0029;ERATE=0.0006;AC=2;AF=0.0009;AMR_AF=0.01;EFF=INTERGENIC(MODIFIER|||||||||)
+1 52058 rs62637813 G C 100.0 PASS AA=C;ERATE=0.0057;AN=2184;AVGPOST=0.9264;VT=SNP;RSQ=0.4882;AC=64;SNPSOURCE=LOWCOV;LDAF=0.0620;THETA=0.0069;AF=0.03;ASN_AF=0.0017;AMR_AF=0.04;AFR_AF=0.02;EUR_AF=0.05;EFF=INTERGENIC(MODIFIER|||||||||)
+1 52144 rs190291950 T A 100.0 PASS THETA=0.0093;ERATE=0.0013;LDAF=0.0156;AA=T;AN=2184;VT=SNP;RSQ=0.5220;AVGPOST=0.9811;SNPSOURCE=LOWCOV;AC=21;AF=0.01;ASN_AF=0.0035;AMR_AF=0.01;AFR_AF=0.01;EUR_AF=0.01;EFF=INTERGENIC(MODIFIER|||||||||)
+1 52185 . TTAA T 244.0 PASS AA=.;AN=2184;LDAF=0.0124;VT=INDEL;AC=10;THETA=0.0232;RSQ=0.4271;AVGPOST=0.9840;ERATE=0.0037;AF=0.0046;ASN_AF=0.0035;AMR_AF=0.02;AFR_AF=0.0020;EFF=INTERGENIC(MODIFIER|||||||||)
+1 52238 rs150021059 T G 100.0 PASS THETA=0.0132;AA=G;AN=2184;RSQ=0.6256;VT=SNP;ERATE=0.0026;AVGPOST=0.8617;SNPSOURCE=LOWCOV;AC=1941;LDAF=0.8423;AF=0.89;ASN_AF=0.99;AMR_AF=0.93;AFR_AF=0.64;EUR_AF=0.95;EFF=INTERGENIC(MODIFIER|||||||||)
+1 53234 . CAT C 227.0 PASS AA=CAT;AVGPOST=0.9936;AN=2184;VT=INDEL;THETA=0.0119;AC=10;LDAF=0.0074;RSQ=0.6237;ERATE=0.0007;AF=0.0046;AMR_AF=0.0028;AFR_AF=0.02;EFF=INTERGENIC(MODIFIER|||||||||)
+1 54353 rs140052487 C A 100.0 PASS THETA=0.0026;AA=C;AN=2184;AC=16;VT=SNP;RSQ=0.5074;SNPSOURCE=LOWCOV;AVGPOST=0.9844;LDAF=0.0146;ERATE=0.0058;AF=0.01;ASN_AF=0.01;AMR_AF=0.0028;AFR_AF=0.02;EUR_AF=0.0013;EFF=INTERGENIC(MODIFIER|||||||||)
+1 54421 rs146477069 A G 100.0 PASS ERATE=0.0013;AN=2184;AC=220;VT=SNP;RSQ=0.7869;AVGPOST=0.9461;AA=A;THETA=0.0025;SNPSOURCE=LOWCOV;LDAF=0.1190;AF=0.10;ASN_AF=0.25;AMR_AF=0.12;AFR_AF=0.03;EUR_AF=0.02;EFF=INTERGENIC(MODIFIER|||||||||)
+1 54490 rs141149254 G A 100.0 PASS ERATE=0.0004;THETA=0.0074;AA=G;AN=2184;VT=SNP;RSQ=0.8366;AVGPOST=0.9646;AC=175;SNPSOURCE=LOWCOV;LDAF=0.0929;AF=0.08;ASN_AF=0.0035;AMR_AF=0.12;AFR_AF=0.03;EUR_AF=0.15;EFF=INTERGENIC(MODIFIER|||||||||)
+1 54676 rs2462492 C T 100.0 PASS LDAF=0.1528;RSQ=0.6989;AA=T;AN=2184;AC=267;VT=SNP;AVGPOST=0.8998;SNPSOURCE=LOWCOV;THETA=0.0110;ERATE=0.0037;AF=0.12;ASN_AF=0.02;AMR_AF=0.20;AFR_AF=0.09;EUR_AF=0.18;EFF=INTERGENIC(MODIFIER|||||||||)
+1 54753 rs143174675 T G 100.0 PASS AA=T;AN=2184;RSQ=0.6820;AC=65;VT=SNP;THETA=0.0080;ERATE=0.0016;SNPSOURCE=LOWCOV;AVGPOST=0.9697;LDAF=0.0399;AF=0.03;AMR_AF=0.04;AFR_AF=0.07;EUR_AF=0.03;EFF=INTERGENIC(MODIFIER|||||||||)
+1 55164 rs3091274 C A 100.0 PASS AN=2184;VT=SNP;ERATE=0.0045;AA=A;THETA=0.0162;SNPSOURCE=LOWCOV;AC=1955;RSQ=0.6373;AVGPOST=0.8686;LDAF=0.8489;AF=0.90;ASN_AF=0.99;AMR_AF=0.94;AFR_AF=0.65;EUR_AF=0.96;EFF=INTERGENIC(MODIFIER|||||||||)
+1 55249 . C CTATGG 443.0 PASS AA=C;AVGPOST=0.9073;ERATE=0.0063;RSQ=0.5891;AN=2184;THETA=0.0038;VT=INDEL;AC=151;LDAF=0.0968;AF=0.07;ASN_AF=0.16;AMR_AF=0.08;AFR_AF=0.03;EUR_AF=0.02;EFF=INTERGENIC(MODIFIER|||||||||)
+1 55299 rs10399749 C T 100.0 PASS RSQ=0.7602;LDAF=0.2954;AN=2184;VT=SNP;ERATE=0.0051;AA=c;AC=554;SNPSOURCE=LOWCOV;AVGPOST=0.8845;THETA=0.0070;AF=0.25;ASN_AF=0.33;AMR_AF=0.21;AFR_AF=0.39;EUR_AF=0.13;EFF=INTERGENIC(MODIFIER|||||||||)
+1 55313 rs182462964 A T 100.0 PASS ERATE=0.0004;RSQ=0.6112;AVGPOST=0.9994;AN=2184;VT=SNP;THETA=0.0057;AA=A;SNPSOURCE=LOWCOV;AC=1;LDAF=0.0008;AF=0.0005;AFR_AF=0.0020;EFF=INTERGENIC(MODIFIER|||||||||)
+1 55326 rs3107975 T C 100.0 PASS AA=C;ERATE=0.0074;AN=2184;THETA=0.0085;VT=SNP;SNPSOURCE=LOWCOV;AVGPOST=0.9622;AC=90;RSQ=0.6901;LDAF=0.0562;AF=0.04;ASN_AF=0.07;AMR_AF=0.02;AFR_AF=0.07;EUR_AF=0.01;EFF=INTERGENIC(MODIFIER|||||||||)
+1 55330 rs185215913 G A 100.0 PASS ERATE=0.0005;AA=G;AN=2184;VT=SNP;THETA=0.0086;AVGPOST=0.9988;LDAF=0.0011;SNPSOURCE=LOWCOV;AC=1;RSQ=0.4701;AF=0.0005;AFR_AF=0.0020;EFF=INTERGENIC(MODIFIER|||||||||)
+1 55367 rs190850374 G A 100.0 PASS ERATE=0.0004;THETA=0.0044;AA=G;AN=2184;VT=SNP;LDAF=0.0029;RSQ=0.3860;SNPSOURCE=LOWCOV;AVGPOST=0.9961;AC=2;AF=0.0009;AMR_AF=0.01;EFF=INTERGENIC(MODIFIER|||||||||)
+1 55388 rs182711216 C T 100.0 PASS THETA=0.0102;ERATE=0.0005;AA=C;AVGPOST=0.9983;AN=2184;LDAF=0.0010;VT=SNP;RSQ=0.2348;SNPSOURCE=LOWCOV;AC=1;AF=0.0005;ASN_AF=0.0017;EFF=INTERGENIC(MODIFIER|||||||||)
+1 55394 rs2949420 T A 100.0 PASS AC=18;AN=2184;VT=SNP;AA=A;RSQ=0.4995;AVGPOST=0.9784;LDAF=0.0171;SNPSOURCE=LOWCOV;ERATE=0.0012;THETA=0.0063;AF=0.01;AMR_AF=0.01;AFR_AF=0.0041;EUR_AF=0.02;EFF=INTERGENIC(MODIFIER|||||||||)
+1 55416 rs193242050 G A 100.0 PASS AA=G;AN=2184;AVGPOST=0.9944;VT=SNP;LDAF=0.0064;AC=9;THETA=0.0019;RSQ=0.6553;SNPSOURCE=LOWCOV;ERATE=0.0006;AF=0.0041;AFR_AF=0.02;EFF=INTERGENIC(MODIFIER|||||||||)
+1 55427 rs183189405 T C 100.0 PASS THETA=0.0054;AA=T;AN=2184;VT=SNP;AVGPOST=0.9969;LDAF=0.0020;SNPSOURCE=LOWCOV;AC=1;RSQ=0.2759;ERATE=0.0007;AF=0.0005;AFR_AF=0.0020;EFF=INTERGENIC(MODIFIER|||||||||)
+1 55816 rs187434873 G A 100.0 PASS AN=2184;THETA=0.0119;VT=SNP;AC=10;RSQ=0.4578;AA=A;SNPSOURCE=LOWCOV;AVGPOST=0.9844;LDAF=0.0108;ERATE=0.0007;AF=0.0046;AMR_AF=0.01;EUR_AF=0.01;EFF=INTERGENIC(MODIFIER|||||||||)
+1 55850 rs191890754 C G 100.0 PASS AVGPOST=0.9921;AA=G;AN=2184;VT=SNP;RSQ=0.4083;THETA=0.0045;LDAF=0.0056;AC=5;SNPSOURCE=LOWCOV;ERATE=0.0006;AF=0.0023;EUR_AF=0.01;EFF=INTERGENIC(MODIFIER|||||||||)
+1 55852 rs184233019 G C 100.0 PASS THETA=0.0137;AA=G;AN=2184;RSQ=0.5433;ERATE=0.0009;LDAF=0.0046;VT=SNP;AVGPOST=0.9953;AC=5;SNPSOURCE=LOWCOV;AF=0.0023;AMR_AF=0.01;EUR_AF=0.0013;EFF=INTERGENIC(MODIFIER|||||||||)
diff -r 1a30b31af89a -r 5fb59611125e test-data/util/build-data/test.auto_dom.ped
--- /dev/null Thu Jan 01 00:00:00 1970 +0000
+++ b/test-data/util/build-data/test.auto_dom.ped Fri Dec 14 12:34:23 2018 -0500
@@ -0,0 +1,9 @@
+1 1_dad 0 0 -1 1
+1 1_mom 0 0 -1 1
+1 1_kid 1_dad 1_mom -1 2
+2 2_dad 0 0 -1 1
+2 2_mom 0 0 -1 2
+2 2_kid 2_dad 2_mom -1 2
+3 3_dad 0 0 -1 2
+3 3_mom 0 0 -1 -9
+3 3_kid 3_dad 3_mom -1 2
diff -r 1a30b31af89a -r 5fb59611125e test-data/util/build-data/test.auto_dom.vcf
--- /dev/null Thu Jan 01 00:00:00 1970 +0000
+++ b/test-data/util/build-data/test.auto_dom.vcf Fri Dec 14 12:34:23 2018 -0500
@@ -0,0 +1,127 @@
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+##UnifiedGenotyper="analysis_type=UnifiedGenotyper input_file=[bam/M10478.conc.on.pos.realigned.bam, bam/M10475.conc.on.pos.realigned.bam, bam/M10500.conc.on.pos.realigned.bam, bam/M128215.conc.on.pos.realigned.bam] read_buffer_size=null phone_home=STANDARD read_filter=[] intervals=null excludeIntervals=null interval_set_rule=UNION interval_merging=ALL reference_sequence=/m/cphg-quinlan/cphg-quinlan/shared/genomes/hg19/bwa/gatk/hg19_gatk.fa rodBind=[] nonDeterministicRandomSeed=false downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=250 baq=OFF baqGapOpenPenalty=40.0 performanceLog=null useOriginalQualities=false defaultBaseQualities=-1 validation_strictness=SILENT unsafe=null num_threads=10 num_cpu_threads=null num_io_threads=null num_bam_file_handles=null read_group_black_list=null pedigree=[] pedigreeString=[] pedigreeValidationType=STRICT allow_intervals_with_unindexed_bam=false logging_level=INFO log_to_file=null help=false genotype_likelihoods_model=BOTH p_nonref_model=EXACT heterozygosity=0.0010 pcr_error_rate=1.0E-4 genotyping_mode=DISCOVERY output_mode=EMIT_VARIANTS_ONLY standard_min_confidence_threshold_for_calling=30.0 standard_min_confidence_threshold_for_emitting=30.0 computeSLOD=false alleles=(RodBinding name= source=UNBOUND) min_base_quality_score=17 max_deletion_fraction=0.05 multiallelic=false max_alternate_alleles=5 min_indel_count_for_genotyping=5 indel_heterozygosity=1.25E-4 indelGapContinuationPenalty=10.0 indelGapOpenPenalty=45.0 indelHaplotypeSize=80 bandedIndel=false indelDebug=false ignoreSNPAlleles=false dbsnp=(RodBinding name= source=UNBOUND) out=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub NO_HEADER=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub sites_only=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub debug_file=null metrics_file=null annotation=[] excludeAnnotation=[] filter_mismatching_base_and_quals=false"
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