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Merge pull request #27 from gatoravi/fix_variants_annotate
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Fix variants annotate
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gatoravi committed Apr 18, 2016
2 parents d93b86f + 8fcbe6d commit 99ade08
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Showing 11 changed files with 153 additions and 71 deletions.
49 changes: 28 additions & 21 deletions src/variants/variants_annotator.cc
Expand Up @@ -253,6 +253,7 @@ void VariantsAnnotator::get_variant_overlaps_spliceregion_ns(const vector<BED>&
}
for(uint32_t i = 0; i < exons.size(); i++) {
if(all_exonic_space_) {
//The exon start and end are in 1-based
if(variant.end >= exons[i].start && variant.end <= exons[i].end) {
variant.score = common::num_to_str(min(variant.end - exons[i].start,
exons[i].end - variant.end));
Expand All @@ -261,9 +262,10 @@ void VariantsAnnotator::get_variant_overlaps_spliceregion_ns(const vector<BED>&
}
}
if(all_intronic_space_) {
if(i != 0 && variant.end >= exons[i].start && variant.end <= exons[i].end) {
variant.score = common::num_to_str(min(variant.end - exons[i].end,
exons[i-1].start - variant.end));
//The exon start and end are in 1-based
if(i != exons.size() - 1 && variant.end < exons[i].start && variant.end > exons[i+1].end) {
variant.score = common::num_to_str(min(variant.end - exons[i+1].end,
exons[i].start - variant.end));
variant.annotation = "intronic";
return;
}
Expand All @@ -273,10 +275,10 @@ void VariantsAnnotator::get_variant_overlaps_spliceregion_ns(const vector<BED>&
if(exons[i].end + intronic_min_distance_ < variant.end) {
return;
}
//exonic near start
if(variant.end >= exons[i].start &&
variant.end <= exons[i].end &&
variant.end <= exons[i].start + exonic_min_distance_) {
//exonic near start and not last exon
if(i != exons.size() - 1 && variant.end >= exons[i].start &&
variant.end <= exons[i].end &&
variant.end <= exons[i].start + exonic_min_distance_) {
variant.score = common::num_to_str(min(variant.end - exons[i].start,
exons[i].end - variant.end));
variant.annotation = "splicing_exonic";
Expand All @@ -294,10 +296,11 @@ void VariantsAnnotator::get_variant_overlaps_spliceregion_ns(const vector<BED>&
set_variant_cis_effect_limits(exons, variant, i);
return;
}
//exonic near end
if(variant.end <= exons[i].end &&
variant.end >= exons[i].start &&
variant.end >= exons[i].end - exonic_min_distance_) {
//exonic near end and not first exon
if(i != 0 &&
variant.end <= exons[i].end &&
variant.end >= exons[i].start &&
variant.end >= exons[i].end - exonic_min_distance_) {
variant.score = common::num_to_str(min(variant.end - exons[i].start,
exons[i].end - variant.end));
variant.annotation = "splicing_exonic";
Expand Down Expand Up @@ -332,7 +335,8 @@ void VariantsAnnotator::get_variant_overlaps_spliceregion_ps(const vector<BED>&
}
for(uint32_t i = 0; i < exons.size(); i++) {
if(all_exonic_space_) {
if(all_exonic_space_ && variant.end >= exons[i].start &&
//The exon start and end are in 1-based
if(variant.end >= exons[i].start &&
variant.end <= exons[i].end) {
variant.score = common::num_to_str(min(variant.end - exons[i].start,
exons[i].end - variant.end));
Expand All @@ -341,8 +345,9 @@ void VariantsAnnotator::get_variant_overlaps_spliceregion_ps(const vector<BED>&
}
}
if(all_intronic_space_) {
if(all_intronic_space_ && i != exons.size() - 1 &&
variant.end >= exons[i].end && variant.end <= exons[i+1].start) {
//The exon start and end are in 1-based
if(i != exons.size() - 1 &&
variant.end > exons[i].end && variant.end < exons[i+1].start) {
variant.score = common::num_to_str(min(variant.end - exons[i].end,
exons[i+1].start - variant.end));
variant.annotation = "intronic";
Expand All @@ -354,10 +359,11 @@ void VariantsAnnotator::get_variant_overlaps_spliceregion_ps(const vector<BED>&
if(exons[i].start - intronic_min_distance_ > variant.end) {
return;
}
//exonic near start
if(variant.end >= exons[i].start &&
variant.end <= exons[i].end &&
variant.end <= exons[i].start + exonic_min_distance_) {
//exonic near start and not first exon
if(i != 0 &&
variant.end >= exons[i].start &&
variant.end <= exons[i].end &&
variant.end <= exons[i].start + exonic_min_distance_) {
variant.score = common::num_to_str(min(variant.end - exons[i].start,
exons[i].end - variant.end));
variant.annotation = "splicing_exonic";
Expand All @@ -376,9 +382,10 @@ void VariantsAnnotator::get_variant_overlaps_spliceregion_ps(const vector<BED>&
return;
}
//exonic near end
if(variant.end <= exons[i].end &&
variant.end >= exons[i].start &&
variant.end >= exons[i].end - exonic_min_distance_) {
if(i != exons.size() - 1 &&
variant.end <= exons[i].end &&
variant.end >= exons[i].start &&
variant.end >= exons[i].end - exonic_min_distance_) {
variant.score = common::num_to_str(min(variant.end - exons[i].start,
exons[i].end - variant.end));
variant.annotation = "splicing_exonic";
Expand Down
@@ -0,0 +1,62 @@

Program: regtools
Version: 0.2.0
Somatic variants: ../tests/integration-test/data/vcf/test3.vcf
Polymorphisms: ../tests/integration-test/data/vcf/test4.vcf.gz
Tumor DNA: ../tests/integration-test/data/bam/cis_ase_tumor_dna.bam
Tumor RNA: ../tests/integration-test/data/bam/cis_ase_tumor_rna.bam
Reference fasta file: ../tests/integration-test/data/fa/test_chr22.fa
Annotation file: ../tests/integration-test/data/gtf/test_ensemble_chr22.3.gtf
Minimum read-depth for variants: 10
Warning: The index file is older than the data file: ../tests/integration-test/data/vcf/test4.vcf.gz.tbi

somatic region is 22:1950-1950
Region within run_mpileup 22:1950-1950

Somatic het. Window is total, max 22 1950 0.759021 C
22:949-2949

inside process_snps 22:949-2949
Warning: The index file is older than the data file: ../tests/integration-test/data/vcf/test4.vcf.gz.tbi
Warning: The index file is older than the data file: ../tests/integration-test/data/vcf/test4.vcf.gz.tbi
Warning: The index file is older than the data file: ../tests/integration-test/data/vcf/test4.vcf.gz.tbi

snp region is 22:1050-1050
running dna snp-mpileup
Region within run_mpileup 22:1050-1050
total, max 22 1050 0.665255 A
dna is het, now running RNA snp-mpileup
Region within run_mpileup 22:1050-1050
RNA-hom
total, max 22 1050 3.16228e-26 A
potential ASE 22:1050-1050

snp region is 22:1550-1550
running dna snp-mpileup
Region within run_mpileup 22:1550-1550
total, max 22 1550 0.991995 C
dna is het, now running RNA snp-mpileup
Region within run_mpileup 22:1550-1550
RNA-hom
total, max 22 1550 3.16228e-26 C
potential ASE 22:1550-1550

snp region is 22:2050-2050
running dna snp-mpileup
Region within run_mpileup 22:2050-2050
total, max 22 2050 0.984205 C
dna is het, now running RNA snp-mpileup
Region within run_mpileup 22:2050-2050
RNA-hom
total, max 22 2050 3.16228e-26 C
potential ASE 22:2050-2050

snp region is 22:2550-2550
running dna snp-mpileup
Region within run_mpileup 22:2550-2550
total, max 22 2550 0.984205 C
dna is het, now running RNA snp-mpileup
Region within run_mpileup 22:2550-2550
RNA-hom
total, max 22 2550 3.16228e-26 C
potential ASE 22:2550-2550
Expand Up @@ -23,11 +23,9 @@
##INFO=<ID=distances,Number=1,Type=String,Description="Vector of Min(Distance from start/end of exon in the transcript.)">
##INFO=<ID=annotations,Number=1,Type=String,Description="Does the variant fall in exonic/intronic splicing related space in the transcript.">
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT A B
22 12791 . C T 59.2 PASS AN=4;AC=2;genes=EP300;transcripts=ENST00000263253;distances=0;annotations=splicing_exonic GT:GQ 0/1:245 0/1:245
22 38192 . G T 19.2 PASS AN=4;AC=2;genes=EP300;transcripts=ENST00000263253;distances=0;annotations=splicing_exonic GT:GQ 0/1:215 0/1:225
22 94627 . G C 29.2 PASS AN=4;AC=2;genes=EP300;transcripts=ENST00000263253;distances=1;annotations=splicing_intronic GT:GQ 0/1:215 0/1:225
22 97780 . G T 29.2 PASS AN=4;AC=2;genes=EP300;transcripts=ENST00000263253;distances=2;annotations=splicing_exonic GT:GQ 0/1:215 0/1:225
22 101080 . G T 29.2 PASS AN=4;AC=2;genes=EP300;transcripts=ENST00000263253;distances=2;annotations=splicing_exonic GT:GQ 0/1:215 0/1:225
22 167675 . G T 29.2 PASS AN=4;AC=2;genes=RANGAP1;transcripts=ENST00000356244,ENST00000405486,ENST00000407260,ENST00000455915;distances=2,2,2,2;annotations=splicing_exonic,splicing_exonic,splicing_exonic,splicing_exonic GT:GQ 0/1:215 0/1:225
22 167677 . G T 29.2 PASS AN=4;AC=2;genes=RANGAP1;transcripts=ENST00000356244,ENST00000405486,ENST00000407260,ENST00000455915;distances=0,0,0,0;annotations=splicing_exonic,splicing_exonic,splicing_exonic,splicing_exonic GT:GQ 0/1:215 0/1:225
22 167679 . G T 29.2 PASS AN=4;AC=2;genes=RANGAP1;transcripts=ENST00000356244,ENST00000405486,ENST00000407260,ENST00000455915;distances=2,2,2,2;annotations=splicing_intronic,splicing_intronic,splicing_intronic,splicing_intronic GT:GQ 0/1:215 0/1:225
Expand Down
Expand Up @@ -33,6 +33,8 @@
22 92500 . G C 29.2 PASS AN=4;AC=2;genes=NA;transcripts=NA;distances=NA;annotations=NA GT:GQ 0/1:215 0/1:225
22 94627 . G C 29.2 PASS AN=4;AC=2;genes=EP300;transcripts=ENST00000263253;distances=1;annotations=splicing_intronic GT:GQ 0/1:215 0/1:225
22 94700 . G C 29.2 PASS AN=4;AC=2;genes=EP300;transcripts=ENST00000263253;distances=72;annotations=exonic GT:GQ 0/1:215 0/1:225
22 97533 . G T 29.2 PASS AN=4;AC=2;genes=EP300;transcripts=ENST00000263253;distances=0;annotations=exonic GT:GQ 0/1:215 0/1:225
22 97778 . G T 29.2 PASS AN=4;AC=2;genes=EP300;transcripts=ENST00000263253;distances=0;annotations=exonic GT:GQ 0/1:215 0/1:225
22 97780 . G T 29.2 PASS AN=4;AC=2;genes=EP300;transcripts=ENST00000263253;distances=2;annotations=exonic GT:GQ 0/1:215 0/1:225
22 100000 . G T 29.2 PASS AN=4;AC=2;genes=EP300;transcripts=ENST00000263253;distances=1082;annotations=exonic GT:GQ 0/1:215 0/1:225
22 101076 . G T 29.2 PASS AN=4;AC=2;genes=EP300;transcripts=ENST00000263253;distances=6;annotations=exonic GT:GQ 0/1:215 0/1:225
Expand Down
Expand Up @@ -33,6 +33,8 @@
22 92500 . G C 29.2 PASS AN=4;AC=2;genes=NA;transcripts=NA;distances=NA;annotations=NA GT:GQ 0/1:215 0/1:225
22 94627 . G C 29.2 PASS AN=4;AC=2;genes=EP300;transcripts=ENST00000263253;distances=1;annotations=splicing_intronic GT:GQ 0/1:215 0/1:225
22 94700 . G C 29.2 PASS AN=4;AC=2;genes=EP300;transcripts=ENST00000263253;distances=72;annotations=exonic GT:GQ 0/1:215 0/1:225
22 97533 . G T 29.2 PASS AN=4;AC=2;genes=EP300;transcripts=ENST00000263253;distances=0;annotations=exonic GT:GQ 0/1:215 0/1:225
22 97778 . G T 29.2 PASS AN=4;AC=2;genes=EP300;transcripts=ENST00000263253;distances=0;annotations=exonic GT:GQ 0/1:215 0/1:225
22 97780 . G T 29.2 PASS AN=4;AC=2;genes=EP300;transcripts=ENST00000263253;distances=2;annotations=exonic GT:GQ 0/1:215 0/1:225
22 100000 . G T 29.2 PASS AN=4;AC=2;genes=EP300;transcripts=ENST00000263253;distances=1082;annotations=exonic GT:GQ 0/1:215 0/1:225
22 101076 . G T 29.2 PASS AN=4;AC=2;genes=EP300;transcripts=ENST00000263253;distances=6;annotations=exonic GT:GQ 0/1:215 0/1:225
Expand Down
Expand Up @@ -24,32 +24,34 @@
##INFO=<ID=annotations,Number=1,Type=String,Description="Does the variant fall in exonic/intronic splicing related space in the transcript.">
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT A B
22 12785 . C T 59.2 PASS AN=4;AC=2;genes=NA;transcripts=NA;distances=NA;annotations=NA GT:GQ 0/1:245 0/1:245
22 12791 . C T 59.2 PASS AN=4;AC=2;genes=EP300;transcripts=ENST00000263253;distances=0;annotations=splicing_exonic GT:GQ 0/1:245 0/1:245
22 12791 . C T 59.2 PASS AN=4;AC=2;genes=NA;transcripts=NA;distances=NA;annotations=NA GT:GQ 0/1:245 0/1:245
22 12797 . C T 59.2 PASS AN=4;AC=2;genes=NA;transcripts=NA;distances=NA;annotations=NA GT:GQ 0/1:245 0/1:245
22 14010 . C T 59.2 PASS AN=4;AC=2;genes=NA;transcripts=NA;distances=NA;annotations=NA GT:GQ 0/1:245 0/1:245
22 17750 . G T 19.2 PASS AN=4;AC=2;genes=EP300;transcripts=ENST00000263253;distances=3647;annotations=intronic GT:GQ 0/1:215 0/1:225
22 38192 . G T 19.2 PASS AN=4;AC=2;genes=EP300;transcripts=ENST00000263253;distances=0;annotations=intronic GT:GQ 0/1:215 0/1:225
22 38192 . G T 19.2 PASS AN=4;AC=2;genes=EP300;transcripts=ENST00000263253;distances=0;annotations=splicing_exonic GT:GQ 0/1:215 0/1:225
22 47048 . G T 29.2 PASS AN=4;AC=2;genes=EP300;transcripts=ENST00000263253;distances=3;annotations=intronic GT:GQ 0/1:215 0/1:225
22 92500 . G C 29.2 PASS AN=4;AC=2;genes=EP300;transcripts=ENST00000263253;distances=924;annotations=intronic GT:GQ 0/1:215 0/1:225
22 94627 . G C 29.2 PASS AN=4;AC=2;genes=EP300;transcripts=ENST00000263253;distances=1;annotations=intronic GT:GQ 0/1:215 0/1:225
22 94700 . G C 29.2 PASS AN=4;AC=2;genes=NA;transcripts=NA;distances=NA;annotations=NA GT:GQ 0/1:215 0/1:225
22 97780 . G T 29.2 PASS AN=4;AC=2;genes=EP300;transcripts=ENST00000263253;distances=2;annotations=splicing_exonic GT:GQ 0/1:215 0/1:225
22 100000 . G T 29.2 PASS AN=4;AC=2;genes=NA;transcripts=NA;distances=NA;annotations=NA GT:GQ 0/1:215 0/1:225
22 101076 . G T 29.2 PASS AN=4;AC=2;genes=NA;transcripts=NA;distances=NA;annotations=NA GT:GQ 0/1:215 0/1:225
22 101080 . G T 29.2 PASS AN=4;AC=2;genes=EP300;transcripts=ENST00000263253;distances=2;annotations=splicing_exonic GT:GQ 0/1:215 0/1:225
22 101088 . G T 29.2 PASS AN=4;AC=2;genes=NA;transcripts=NA;distances=NA;annotations=NA GT:GQ 0/1:215 0/1:225
22 104067 . G T 29.2 PASS AN=4;AC=2;genes=RP1-85F18.6;transcripts=ENST00000415054;distances=1;annotations=splicing_intronic GT:GQ 0/1:215 0/1:225
22 92500 . G C 29.2 PASS AN=4;AC=2;genes=EP300,RP1-85F18.6;transcripts=ENST00000263253,ENST00000415054;distances=924,1914;annotations=intronic,intronic GT:GQ 0/1:215 0/1:225
22 94627 . G C 29.2 PASS AN=4;AC=2;genes=EP300,RP1-85F18.6;transcripts=ENST00000263253,ENST00000415054;distances=1,4041;annotations=intronic,intronic GT:GQ 0/1:215 0/1:225
22 94700 . G C 29.2 PASS AN=4;AC=2;genes=RP1-85F18.6;transcripts=ENST00000415054;distances=4114;annotations=intronic GT:GQ 0/1:215 0/1:225
22 97533 . G T 29.2 PASS AN=4;AC=2;genes=EP300,RP1-85F18.6;transcripts=ENST00000263253,ENST00000415054;distances=0,6535;annotations=splicing_exonic,intronic GT:GQ 0/1:215 0/1:225
22 97778 . G T 29.2 PASS AN=4;AC=2;genes=EP300,RP1-85F18.6;transcripts=ENST00000263253,ENST00000415054;distances=0,6290;annotations=splicing_exonic,intronic GT:GQ 0/1:215 0/1:225
22 97780 . G T 29.2 PASS AN=4;AC=2;genes=EP300,RP1-85F18.6;transcripts=ENST00000263253,ENST00000415054;distances=2,6288;annotations=splicing_exonic,intronic GT:GQ 0/1:215 0/1:225
22 100000 . G T 29.2 PASS AN=4;AC=2;genes=RP1-85F18.6;transcripts=ENST00000415054;distances=4068;annotations=intronic GT:GQ 0/1:215 0/1:225
22 101076 . G T 29.2 PASS AN=4;AC=2;genes=RP1-85F18.6;transcripts=ENST00000415054;distances=2992;annotations=intronic GT:GQ 0/1:215 0/1:225
22 101080 . G T 29.2 PASS AN=4;AC=2;genes=RP1-85F18.6;transcripts=ENST00000415054;distances=2988;annotations=intronic GT:GQ 0/1:215 0/1:225
22 101088 . G T 29.2 PASS AN=4;AC=2;genes=RP1-85F18.6;transcripts=ENST00000415054;distances=2980;annotations=intronic GT:GQ 0/1:215 0/1:225
22 104067 . G T 29.2 PASS AN=4;AC=2;genes=RP1-85F18.6;transcripts=ENST00000415054;distances=1;annotations=intronic GT:GQ 0/1:215 0/1:225
22 104068 . G T 29.2 PASS AN=4;AC=2;genes=RP1-85F18.6;transcripts=ENST00000415054;distances=0;annotations=splicing_exonic GT:GQ 0/1:215 0/1:225
22 104069 . G T 29.2 PASS AN=4;AC=2;genes=RP1-85F18.6;transcripts=ENST00000415054;distances=1;annotations=splicing_exonic GT:GQ 0/1:215 0/1:225
22 104148 . G T 29.2 PASS AN=4;AC=2;genes=RP1-85F18.6;transcripts=ENST00000415054;distances=1;annotations=splicing_exonic GT:GQ 0/1:215 0/1:225
22 104149 . G T 29.2 PASS AN=4;AC=2;genes=RP1-85F18.6;transcripts=ENST00000415054;distances=0;annotations=splicing_exonic GT:GQ 0/1:215 0/1:225
22 104148 . G T 29.2 PASS AN=4;AC=2;genes=NA;transcripts=NA;distances=NA;annotations=NA GT:GQ 0/1:215 0/1:225
22 104149 . G T 29.2 PASS AN=4;AC=2;genes=NA;transcripts=NA;distances=NA;annotations=NA GT:GQ 0/1:215 0/1:225
22 104150 . G T 29.2 PASS AN=4;AC=2;genes=NA;transcripts=NA;distances=NA;annotations=NA GT:GQ 0/1:215 0/1:225
22 167640 . G T 29.2 PASS AN=4;AC=2;genes=RANGAP1;transcripts=ENST00000356244,ENST00000405486,ENST00000407260,ENST00000455915;distances=2695,2695,2695,2695;annotations=intronic,intronic,intronic,intronic GT:GQ 0/1:215 0/1:225
22 167675 . G T 29.2 PASS AN=4;AC=2;genes=RANGAP1;transcripts=ENST00000356244,ENST00000405486,ENST00000407260,ENST00000455915;distances=2660,2660,2660,2660;annotations=intronic,intronic,intronic,intronic GT:GQ 0/1:215 0/1:225
22 167677 . G T 29.2 PASS AN=4;AC=2;genes=RANGAP1;transcripts=ENST00000356244,ENST00000405486,ENST00000407260,ENST00000455915;distances=0,0,0,0;annotations=intronic,intronic,intronic,intronic GT:GQ 0/1:215 0/1:225
22 167679 . G T 29.2 PASS AN=4;AC=2;genes=RANGAP1;transcripts=ENST00000356244,ENST00000405486,ENST00000407260,ENST00000455915;distances=2,2,2,2;annotations=splicing_intronic,splicing_intronic,splicing_intronic,splicing_intronic GT:GQ 0/1:215 0/1:225
22 175311 . G T 29.2 PASS AN=4;AC=2;genes=RANGAP1;transcripts=ENST00000356244,ENST00000405486,ENST00000407260,ENST00000455915;distances=2,2,2,2;annotations=splicing_intronic,splicing_intronic,splicing_intronic,splicing_intronic GT:GQ 0/1:215 0/1:225
22 175501 . G T 29.2 PASS AN=4;AC=2;genes=RANGAP1;transcripts=ENST00000356244,ENST00000405486,ENST00000407260,ENST00000455915;distances=2,2,2,2;annotations=splicing_intronic,splicing_intronic,splicing_intronic,splicing_intronic GT:GQ 0/1:215 0/1:225
22 206985 . G T 29.2 PASS AN=4;AC=2;genes=NA;transcripts=NA;distances=NA;annotations=NA GT:GQ 0/1:215 0/1:225
22 167640 . G T 29.2 PASS AN=4;AC=2;genes=NA;transcripts=NA;distances=NA;annotations=NA GT:GQ 0/1:215 0/1:225
22 167675 . G T 29.2 PASS AN=4;AC=2;genes=RANGAP1;transcripts=ENST00000356244,ENST00000405486,ENST00000407260,ENST00000455915;distances=2,2,2,2;annotations=splicing_exonic,splicing_exonic,splicing_exonic,splicing_exonic GT:GQ 0/1:215 0/1:225
22 167677 . G T 29.2 PASS AN=4;AC=2;genes=RANGAP1;transcripts=ENST00000356244,ENST00000405486,ENST00000407260,ENST00000455915;distances=0,0,0,0;annotations=splicing_exonic,splicing_exonic,splicing_exonic,splicing_exonic GT:GQ 0/1:215 0/1:225
22 167679 . G T 29.2 PASS AN=4;AC=2;genes=RANGAP1;transcripts=ENST00000356244,ENST00000405486,ENST00000407260,ENST00000455915;distances=2,2,2,2;annotations=intronic,intronic,intronic,intronic GT:GQ 0/1:215 0/1:225
22 175311 . G T 29.2 PASS AN=4;AC=2;genes=RANGAP1;transcripts=ENST00000356244,ENST00000405486,ENST00000407260,ENST00000455915;distances=2,2,2,2;annotations=intronic,intronic,intronic,intronic GT:GQ 0/1:215 0/1:225
22 175501 . G T 29.2 PASS AN=4;AC=2;genes=RANGAP1;transcripts=ENST00000356244,ENST00000405486,ENST00000407260,ENST00000455915;distances=2,2,2,2;annotations=intronic,intronic,intronic,intronic GT:GQ 0/1:215 0/1:225
22 206985 . G T 29.2 PASS AN=4;AC=2;genes=RANGAP1;transcripts=ENST00000356244;distances=6;annotations=intronic GT:GQ 0/1:215 0/1:225
22 206991 . G T 29.2 PASS AN=4;AC=2;genes=RANGAP1;transcripts=ENST00000356244;distances=0;annotations=splicing_exonic GT:GQ 0/1:215 0/1:225
22 206993 . G T 29.2 PASS AN=4;AC=2;genes=RANGAP1;transcripts=ENST00000356244;distances=2;annotations=splicing_exonic GT:GQ 0/1:215 0/1:225

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