-
Notifications
You must be signed in to change notification settings - Fork 6
Commit
This commit does not belong to any branch on this repository, and may belong to a fork outside of the repository.
Merge pull request #72 from Clinical-Genomics/add_test_for_trgt_dot_mcs
Add test for trgt dot mcs
- Loading branch information
Showing
4 changed files
with
56 additions
and
0 deletions.
There are no files selected for viewing
This file contains bidirectional Unicode text that may be interpreted or compiled differently than what appears below. To review, open the file in an editor that reveals hidden Unicode characters.
Learn more about bidirectional Unicode characters
This file contains bidirectional Unicode text that may be interpreted or compiled differently than what appears below. To review, open the file in an editor that reveals hidden Unicode characters.
Learn more about bidirectional Unicode characters
This file contains bidirectional Unicode text that may be interpreted or compiled differently than what appears below. To review, open the file in an editor that reveals hidden Unicode characters.
Learn more about bidirectional Unicode characters
This file contains bidirectional Unicode text that may be interpreted or compiled differently than what appears below. To review, open the file in an editor that reveals hidden Unicode characters.
Learn more about bidirectional Unicode characters
Original file line number | Diff line number | Diff line change |
---|---|---|
@@ -0,0 +1,44 @@ | ||
##fileformat=VCFv4.2 | ||
##FILTER=<ID=PASS,Description="All filters passed"> | ||
##INFO=<ID=TRID,Number=1,Type=String,Description="Tandem repeat ID"> | ||
##INFO=<ID=END,Number=1,Type=Integer,Description="End position of the variant described in this record"> | ||
##INFO=<ID=MOTIFS,Number=1,Type=String,Description="Motifs that the tandem repeat is composed of"> | ||
##INFO=<ID=STRUC,Number=1,Type=String,Description="Structure of the region"> | ||
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype"> | ||
##FORMAT=<ID=AL,Number=.,Type=Integer,Description="Length of each allele"> | ||
##FORMAT=<ID=ALLR,Number=.,Type=String,Description="Length range per allele"> | ||
##FORMAT=<ID=SD,Number=.,Type=Integer,Description="Number of spanning reads supporting per allele"> | ||
##FORMAT=<ID=MC,Number=.,Type=String,Description="Motif counts per allele"> | ||
##FORMAT=<ID=MS,Number=.,Type=String,Description="Motif spans per allele"> | ||
##FORMAT=<ID=AP,Number=.,Type=Float,Description="Allele purity per allele"> | ||
##FORMAT=<ID=AM,Number=.,Type=Float,Description="Mean methylation level per allele"> | ||
##contig=<ID=1,length=249250621> | ||
##contig=<ID=2,length=243199373> | ||
##contig=<ID=3,length=198022430> | ||
##contig=<ID=4,length=191154276> | ||
##contig=<ID=5,length=180915260> | ||
##contig=<ID=6,length=171115067> | ||
##contig=<ID=7,length=159138663> | ||
##contig=<ID=8,length=146364022> | ||
##contig=<ID=9,length=141213431> | ||
##contig=<ID=10,length=135534747> | ||
##contig=<ID=11,length=135006516> | ||
##contig=<ID=12,length=133851895> | ||
##contig=<ID=13,length=115169878> | ||
##contig=<ID=14,length=107349540> | ||
##contig=<ID=15,length=102531392> | ||
##contig=<ID=16,length=90354753> | ||
##contig=<ID=17,length=81195210> | ||
##contig=<ID=18,length=78077248> | ||
##contig=<ID=19,length=59128983> | ||
##contig=<ID=20,length=63025520> | ||
##contig=<ID=21,length=48129895> | ||
##contig=<ID=22,length=51304566> | ||
##contig=<ID=X,length=155270560> | ||
##contig=<ID=Y,length=59373566> | ||
##contig=<ID=MT,length=16569> | ||
##trgtVersion=0.7.0-4941fbb | ||
##trgtCommand=./singularity/trgt-v0.7.0-linux_x86_64 --genome /home/proj/development/rare-disease/ONT/analysis/poorpipe/references/human_g1k_v37.fasta --repeats hg19.STRchive-disease-loci.TRGT.bed --reads sample.bam --output-prefix sample.trgt | ||
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT sample | ||
1 57832717 . AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAATAAA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAATAAA,AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAATAAA 0 . TRID=SCA37_DAB1;END=57832797;MOTIFS=AAAAT,GAAAT;STRUC=(AAAAT)n(GAAAT)n(AAAAT)n GT:AL:ALLR:SD:MC:MS:AP:AM 1/2:76,101:69-79,94-101:25,27:15_0,20_0:0(0-76)_1(76-76)_0(76-76),0(0-101)_1(101-101)_0(101-101):0.947368,0.960396:.,. | ||
16 24624761 . TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT,TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT 0 . TRID=FAME6_TNRC6A;END=24624853;MOTIFS=TTTTA,TTTCA;STRUC=(TTTTA)n(TTTCA)n(TTTTA)n GT:AL:ALLR:SD:MC:MS:AP:AM 1/2:58,68:46-62,64-71:11,22:11_1,13_1:0(0-55)_1(55-58)_0(58-58),0(0-65)_1(65-68)_0(68-68):0.965517,0.970588:.,. |