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merging different SV type?

Open leone93 opened this issue 11 months ago • 2 comments

Version : Truvari v4.2.2-dev 1cd03b2f4e8afdb3431595fa351501b36db3cfd8

Describe the bug :

I'm trying to use Truvari merging to merge a file containing sv calling coming from 4 different callers. Actually I did this thing with SURIVOR instead of bcftools merging because the latter has some problems putting together the different field coming from the 4 different caller. I did it in a very stringent mode to not do overmerging and leave this part to Truvari. I used Truvari collapse with --intra on the file and everything worked good. Then I checked the difference between the two vcf files using bcftools isec and I noticed that at least in this case Truvari seems to discard this data or, worse merging different SV type starting more or less in the same point.

To Reproduce : truvari collapse --intra --keep maxqual --gt het --chain -i sample_merged_10bp.sorted.vcf.gz -o truvari-dev_merge.vcf -c truvari-dev_collapsed.vcf -f /home/fabbial/reference/all.chrs.con.fasta

Expected behavior : A clear and concise description of what you expected to happen.

Example Data : If applicable/possible, add example data to help recreate your problem.

Additional context : Original file:

Chr10   15693   pbsv.INS.9527   G       GGTTAATGTGGACCCCCGTTTTTATAACAGGAATCAATCGTGTAAACAGTACCATTTCCCTGGATCAAGTAGTTTGGTACACACGAATTCATAGCTGGAATATCAAGTGCACATACACGAGTGTTTAATACGAATTATTACATCATAGGCCCGCAGGCATAGCCTTAAATCATCGGACCGAGAGGTCCGGAATACATCCAAAAGCAGAAATAGATAAGGCAGCGGAATTCAGGCAGCGGCATGCCATTGCCACAGGCAACGACCGTGCTAAGACCTACTGGACGCCATCGTCTTCATCTCCTTCCTGATAATAGGCATAGGGATCCTCCGAGGCTTCATCTCCCACTTCTGATAAATTTTATATTTGCAAGGATGAGTACCAACCGTACTCAGCAAGCCACCACAGCAACAATGCATATGAAAGGGGGAGTTCAAAGGATGGCCATAGTTCTTTTGCGCAAAGCAAGTTTTGTAATTCTTTTCACAAGCCTAAGACCTAGCATTGACTGATCAAATTTTTAGTACCAGAGTTTGTATTTAAACAACGACGGTTCTGTCCACCATCCATTGTGATCCCAAAGCTTCCCGCCATTGATTCGTCATGGTTTTCTGAGGACGTCCACCTTCCCGCCTCTCAGGAAGTGGCTCCAACAGCATAAAATTCATCATGCAATATCCCATCCCACACAAGTTAAGAATTTAGAGTCTAGCCAAGTGTAATACATGTCCCGGTGCTCAATAACCGCGAGCACGGCTATTCGAATAGGTTTGGTTTACTCACACTGCAGTGGATGTACACTTTACCCGCACTCCGCGACTGCCCAACACATGAGCCTCGTCCCAACACATGAGACGCGTCACGGCAAAGCTTTTCGATAACCTCGCATTGGCAGTACCCGCTCCAGGAACTTTTCATCCTCATGCACTCTAGGAATACACGGTTTCTAGCAGTGAGAGGAGTTCTGGCGCACCCGGGAAGGGAAGACTCACACATGCATTAAGTTATAATTATGTTTTAGATTCTCACATGGCAGTCCTACCGATGGCGACACCACTGTAGACACCCTCCTCGCGGTCCTACCAATGGCTGCCCCACCGTAGAGCCCCTGCCTCACACATCAAGAAACCACTATGCATGGATACTGCCTCCGCTCAGCTATCTACTCCGCTAGGTCTATACCCATACGAGAAGTGCGGTTGTACGGGGGTCGTTTCATGCTTAACCTCATGGCTCGGTCCTTAATTGACCAGGGACGGCACTAGCCTTTTCCGGACACCACCCAAGTCCTCCAGCCGCCCCAGTCGAAAACAGTTGTTTTACTTTATTTTCCTTTCACAAATTATGTCATCAATATCATGGCAATGTGGCGCTCATGTCTCCACATGCCGCATCTCAATTACCTTCCCAAAGGTAATTGCCCAAGCATATAGCATTTGATAAATATGAGTATGCATGAATCTAAAATAGCATTTCTAAGCAAGTGTCATAGTTGACTAGGGACTCGTACGTATCCATGGTTACAAAGATTTAAAGGTGAACAATAATCAAGGCATGGCATAATCACAAGTAGGAGGTTCATAATTGCATGCAATTTTATTTATAAACAAAAGAATTTCGCAATTGGGATCAACATGTTCAAGGAATAGTGATGACTTGCCTTGCTCGAGGTCTTGCGGGTCTTGGCCTTCACCTGGATCCGCGGCTCCCTCGGTCTCTATAGTTACGTGCGAAAATTGATTTGAATTCGGTTAGAATTCAAATAAAAATCCAAGTAAATCCGAATGGAAGTCGAACGCGAAAGTCAATTCCTTTTTATTAATTTTACTATCCGCGAACTATGGCAAACCCCAATTTTGGTTTAAATTATTTTGCGGTTACAATATTTTGTTGTCGTATGTTTTTAATTTAATCTACCCTAGCATTATATCCATATATTAGGTTAGAAATTTCTTATCGCGAGCTAAATGTCGGGCGGAATCCTAAAATTATCTTATAATATTATACGACTTAATTTAGTCTATGATTAAATATAATACACGGTTAACACCCTAGTAATTAAATCCGAATCGCTACCGTTGATCGATTATTTATAGAGATTACCCAGAAATAATCCACAATAATTTACGAGAATTCATACATTTGTTTAATTATTAATTACATCTAAATTAATACCGCGAATTGATTTCTTATGGAGAGTACTAAAAGTTATCTATAATCTATAGGAATTTATCCCATTATATTTTCATTAATCCTATATTTAAATGCTAGTATTTTAGGTATTTAATTAGTAAGAGTTTATCTAACTATATTTTCATTAATCCTACAATTAAATTCTAATATTTGCAAATATTTTAAATTTCCCCCTAAATTTTTCTTTCTCTTTTTCTTTCCCTTTTTCCTCTCCTCTCTTTTCTTTTCTTTTTTCTTTCTCTCCCTTTCTTTTCTTTTCTCTCCTGGCTTCCTCCTCCCTTCCTCTCCTTCTCTTTCTCGGCTCTCCCTCTCTTTCTCTCGGCTCTCTCTCTTTCCCACCCGAGCGGTGGCGGCGGCGGACTCGAGGGAAACGGAGGGCGACTCATCGGCGGCGGCAGCGGCGATGACGGCGGCAGCGACGGCGGCGCACGGTGGCGCGAGAACGGCGGTGCGGGCACGGAAACGGTCGGCGCGGCAGCACGACGGCGGCGGTGCGGCGGCACTACGATGGCGGCGCGACGGCGTGGAGGAGTGGGTGGTGGAGACGGGGAGAAGGGGGGGGGAATAGTGAGGCTTTTATAGGGGAAGGGAGAGAGATAAGGGGGAAGGAGGAGGAGGGAAGAGGGAAGAGGGGAAGAGGGGAAGAAGAAGAGGGGAAAGAGAGGAGGGGGAGGGGCGGCGACGCGGCTGCGGTGACGGGATGGCGGCGCGGGGCTCGGCGCGCGGCGGGACGCGAGACGCGACGGCGACGGATGAGCGGCGACGGGACGGCGACGCGACGGGCGACGGCGCGCGGCGATGGCGACGAGCGGGCGGCGCGGCGCGGGGCTCGGAGCGGCTCGGCGCGGGAGGGGACGGCGACGCGACGGGCGGTGACGGGGTGCGTGGGCGCGCGGGGCGAGGTGGCAGGCGGCGATGGGACGGCGACGCGACACGGGACGGCGACGCGACGGGCGGTGACGGGGTGCGTGGGCGCGCGGGGCGAGGTGGCAGGCGGCGATGGGACGGCGACGCGACACGGGACGGCGACGCGACGGCGACGGTGATGCGACGGCGAGCGACGCGGCAGAGGGGAGGCGGAGCGGCGCGCGTGGCAGGGGAGGGGAAAGGCTGGGGACCAGGTCGAACACGTGGCGGGCAATGAACAGTGCACTTTTCCAATAAACCGATTTTAGAGTGTTTCTCATATGAATTTGATTCCGAAATTCTTAATTTTTTGCATAAATGAAGTTTTACCCCATATTTATATTATTCTAACTAAAGATTCACCTAATTTAATATCACTCATATTTTGTTTATATAATTCATTTGAATTTTTAATTAAAGTTAATTCTCATTCCATCGTATTAAAATTTAATTGTTGTTAATATGGTTGCGATAACATTTTATTTATTTCCAAACCCACCTAATCTTTATTTTAATTTATATTTTAATTATTTATTTAGCCCACTTGATTTTTAGGGTTTATTCCTAGTTAATTTCCTCCCATTTGTGATCGATGAAATCCGAAATCAAAATCCAATAAAATCTTCGAATAAAATTGGCATGATGCAATTTATTTAAAAAGTTTTTTTTTTTTTGAAGATCAGAATTTTTTTGGAGTCTTTGATTTTGTTGGTCGAATTTTCAGAATGTTACA  133     PASS    SUPP=3;SUPP_VEC=1011;SVLEN=3827;SVTYPE=INS;SVMETHOD=SURVIVOR1.0.7;CHR2=Chr10;END=15693;CIPOS=0,1;CIEND=-6,1;STRANDS=+-  GT:PSV:LN:DR:ST:QV:TY:ID:RAL:AAL:CO     1/1:NA:3823:1,15:+-:133:INS:cuteSV.INS.838:G:GGTTAATGTGGACCCCCGTTTTTATAACAGGAATCAATCGTGTAAACAGTACCATTTCCCTGGATCAAGTAGTTTGGTACACACGAATTCATAGCTGGAATATCAAGTGCACATACACGAGTGTTTAATACGAATTATTACATCATAGGCCGCAGGCATAGCCTTAAATCATCGGACCGAGAGGTCCGGAATACATCCAAAAGCAGAAATAGATAAGGCAGCGGAATTCAGGCAGCGGCATGCCATTGCCACAGGCAACGACCGTGCTAAGACCTACTGGACGCCATCGTCTTCATCTCCTTCCTGATAATAGGCATAGGGATCCTCCGAGGCTTCATCTCCCACTTCTGATAAATTTTATATTTGCAAGGATGAGTACCAACCGTACTCAGCAAGCCACCACAGCAACAATGCATATGAAAGGGGGAGTTCAAAGGATGGCCATAGTTCTTTTGCGCAAAGCAAGTTTTGTAATTCTTTTCACAAGCCTAAGACCTAGCATTGACTGATCAAATTTTTAGTACCAGAGTTTGTATTTAAACAACGACGGTTCTGTCCACCATCCATTGTGATCCCAAAGCTTCCCGCCATTGATTCGTCATGGTTTTCTGAGGACGTCCACCTTCCCGCCTCTCAGGAAGTGGCTCCAACAGCATAAAATTCATCATGCAATATCCCATCCCACACAAGTTAAGAATTTAGAGTCTAGCCAAGTGTAATACATGTCCCGGTGCTCAATAACCGCGAGCACGGCTATTCGAATAGGTTTGGTTTACTCACACTGCAGTGGATGTACACTTTACCCGCACTCCGCGACTGCCCAACACATGAGCCTCGTCCCAACACATGAGACGCGTCACGGCAAAGCTTTTCGATAACCTCGCATTGGCAGTACCCGCTCCAGGAACTTTTCATCCTCATGCACTCTAGGAATACACGGTTTCTAGCAGTGAGAGGAGTTCTGGCGCACCCGGGAAGGGAAGACTCACACATGCATTAAGTTATAATTATGTTTTAGATTCTCACATGGCAGTCCTACCGATGGCGACACCACTGTAGACACCCTCCTCGCGGTCCTACCAATGGCTGCCCCACCGTAGAGCCCCTGCCTCACACATCAAGAAACCACTATGCATGGATACTGCCTCCGCTCAGCTATCTACTCCGCTAGGTCTATACCCATACGAGAAGTGCGGTTGTACGGGGGTCGTTTCATGCTTAACCTCATGGCTCGGTCCTTAATTGACCAGGGACGGCACTAGCCTTTTCCGGACACCACCCAAGTCCTCCAGCCGCCCCAGTCGAAAACAGTTGTTTTACTTTATTTTCCTTTCACAAATTATGTCATCAATATCATGGCAATGTGGCGCTCATGTCTCCACATGCCGCATCTCAATTACCTTCCCAAAGGTAATTGCCCAAGCATATAGCATTTGATAAATATGAGTATGCATGAATCTAAAATAGCATTTCTAAGCAAGTGTCATAGTTGACTAGGGACTCGTACGTATCCATGGTTACAAAGATTTAAAGGTGAACAATAATCAAGGCATGGCATAATCACAAGTAGGAGGTTCATAATTGCATGCAATTTTATTTATAAACAAAAGAATTTCGCAATTGGGATCAACATGTTCAAGGAATAGTGATGACTTGCCTTGCTCGAGGTCTTGCGGGTCTTGGCCTTCACCTGGATCCGCGGCTCCCTCGGTCTCTATAGTTACGTGCGAAAATTGATTTGAATTCGGTTAGAATTCAAATAAAAATCCAAGTAAATCCGAATGGAAGTCGAACGCGAAAGTCAATTCCTTTTTATTAATTTTACTATCCGCGAACTATGGCAAACCCCAATTTTGGTTTAAATTATTTTGCGGTTACAATATTTTGTTGTCGTATGTTTTTAATTTAATCTACCCTAGCATTATATCCATATATTAGGTTAGAAATTTCTTATCGCGAGCTAAATGTCGGGCGGAATCCTAAAATTATCTTATAATATTATACGACTTAATTTAGTCTATGATTAAATATAATACACGGTTAACACCCTAGTAATTAAATCCGAATCGCTACCGTTGATCGATTATTTATAGAGATTACCCAGAAATAATCCACAATAATTTACGAGAATTCATACATTTGTTTAATTATTAATTACATCTAAATTAATACCGCGAATTGATTTCTTATGGAGAGTACTAAAAGTTATCTATAATCTATAGGAATTTATCCCATTATATTTTCATTAATCCTATATTTAAATGCTAGTATTTTAGGTATTTAATTAGTAAGAGTTTATCTAACTATATTTTCATTAATCCTACAATTAAATTCTAATATTTGCAAATATTTTAAATTTCCCCCTAAATTTTTCTTTCTCTTTTTCTTTCCCTTTTTCCTCTCCTCTCTTTTCTTTCTTTTTTCTTTCTCTCCCTTTCTTTTCTTTTCTCTCCTGGCTTCCTCCTCCCTTCCTCTCCTTCTCTTTCTCGGCTCTCCCTCTCTTTCTCTCGGCTCTCTCTCTTTCCCACCCGAGCGGTGGCGGCGGCGGACTCGAGGGAAACGGAGGGCGACTCATCGGCGGCGGCAGCGGCGATGACGGCGGCAGCGACGGCGGCGCACGGTGGCGCGAGAACGGCGGTGCGGGCACGGAAACGGTCGGCGCGGCAGCACGACGGCGGCGGTGCGGCGGCACTACGATGGCGGCGCGACGGCGTGGAGGAGTGGGTGGTGGAGACGGGGAGAAGGGGGGGGGAATAGTGAGGCTTTTATAGGGGAAGGGAGAGAGATAAGGGGGAAGGAGGAGGAGGGAAGAGGGAAGAGGGGAAGAGGGGAAGAAGAAGAGGGGAAAGAGAGAGGGGGAGGGGCGGCGACGCGGCTGCGGTGACGGGATGGCGGCGCGGGGCTCGGCGCGCGGCGGGACGCGAGACGCGACGGCGACGGATGAGCGGCGACGGGACGGCGACGCGACGGGCGACGGCGCGCGGCGATGGCGACGAGCGGGCGGCGCGGCGCGGGGCTCGGAGCGGCTCGGCGCGGGAGGGGACGGCGACGCGACGGGCGGTGACGGGGTGCGTGGGCGCGCGGGGCGAGGTGGCAGGCGGCGATGGGACGGCGACGCGACACGGGACGGCGACGCGACGGGCGGTGACGGGGTGCGTGGGCGCGCGGGGCGAGGTGGCAGGCGGCGATGGGACGGCGACGCGACACGGGACGGCGACGCGACGGCGACGGTGATGCGACGGCGAGCGACGCGGCAGAGGGGAGGCGGAGCGGCGCGCGTGGCAGGGGAGGGGAAAGGCTGGGGACCAGGTCGAACACGTGGCGGGCAATGAACAGTGCACTTTTCCAATAAACCGATTTTAGAGTGTTTCTCATATGAATTTGATTCCGAAATTCTTAATTTTTTGCATAAATGAAGTTTTACCCCATATTTATATTATTCTAACTAAAGATTCACCTAATTTAATATCACTCATATTTTGTTTATATAATTCATTTGAATTTTTAATTAAAGTTAATTCTCATTCCATCGTATTAAAATTTATTGTTGTTAATATGGTTGCGATAACATTTTATTTATTTCCAAACCCACCTAATCTTTATTTAATTTATATTTTAATTATTTATTTAGCCCACTTGATTTTTAGGGTTTATTCCTAGTTAATTTCCTCCCATTTGTGATCGATGAAATCCGAAATCAAAATCCAATAAAATCTTCGAATAAAATTGGCATGATGCAATTTATTTAAAAAGTTTTTTTTTTTTGAAGATCAGAATTTTTTTGGAGTCTTTGATTTTGTTGGTCGAATTTTCAGAATGTTACA:Chr10_15693-Chr10_15693   ./.:NaN:0:0,0:--:NaN:NaN:NaN:NAN:NAN:NAN        1/1:NA:3829:0,0:+-:.:INS:pbsv.INS.9527:G:GGTTAATGTGGACCCCCGTTTTTATAACAGGAATCAATCGTGTAAACAGTACCATTTCCCTGGATCAAGTAGTTTGGTACACACGAATTCATAGCTGGAATATCAAGTGCACATACACGAGTGTTTAATACGAATTATTACATCATAGGCCCGCAGGCATAGCCTTAAATCATCGGACCGAGAGGTCCGGAATACATCCAAAAGCAGAAATAGATAAGGCAGCGGAATTCAGGCAGCGGCATGCCATTGCCACAGGCAACGACCGTGCTAAGACCTACTGGACGCCATCGTCTTCATCTCCTTCCTGATAATAGGCATAGGGATCCTCCGAGGCTTCATCTCCCACTTCTGATAAATTTTATATTTGCAAGGATGAGTACCAACCGTACTCAGCAAGCCACCACAGCAACAATGCATATGAAAGGGGGAGTTCAAAGGATGGCCATAGTTCTTTTGCGCAAAGCAAGTTTTGTAATTCTTTTCACAAGCCTAAGACCTAGCATTGACTGATCAAATTTTTAGTACCAGAGTTTGTATTTAAACAACGACGGTTCTGTCCACCATCCATTGTGATCCCAAAGCTTCCCGCCATTGATTCGTCATGGTTTTCTGAGGACGTCCACCTTCCCGCCTCTCAGGAAGTGGCTCCAACAGCATAAAATTCATCATGCAATATCCCATCCCACACAAGTTAAGAATTTAGAGTCTAGCCAAGTGTAATACATGTCCCGGTGCTCAATAACCGCGAGCACGGCTATTCGAATAGGTTTGGTTTACTCACACTGCAGTGGATGTACACTTTACCCGCACTCCGCGACTGCCCAACACATGAGCCTCGTCCCAACACATGAGACGCGTCACGGCAAAGCTTTTCGATAACCTCGCATTGGCAGTACCCGCTCCAGGAACTTTTCATCCTCATGCACTCTAGGAATACACGGTTTCTAGCAGTGAGAGGAGTTCTGGCGCACCCGGGAAGGGAAGACTCACACATGCATTAAGTTATAATTATGTTTTAGATTCTCACATGGCAGTCCTACCGATGGCGACACCACTGTAGACACCCTCCTCGCGGTCCTACCAATGGCTGCCCCACCGTAGAGCCCCTGCCTCACACATCAAGAAACCACTATGCATGGATACTGCCTCCGCTCAGCTATCTACTCCGCTAGGTCTATACCCATACGAGAAGTGCGGTTGTACGGGGGTCGTTTCATGCTTAACCTCATGGCTCGGTCCTTAATTGACCAGGGACGGCACTAGCCTTTTCCGGACACCACCCAAGTCCTCCAGCCGCCCCAGTCGAAAACAGTTGTTTTACTTTATTTTCCTTTCACAAATTATGTCATCAATATCATGGCAATGTGGCGCTCATGTCTCCACATGCCGCATCTCAATTACCTTCCCAAAGGTAATTGCCCAAGCATATAGCATTTGATAAATATGAGTATGCATGAATCTAAAATAGCATTTCTAAGCAAGTGTCATAGTTGACTAGGGACTCGTACGTATCCATGGTTACAAAGATTTAAAGGTGAACAATAATCAAGGCATGGCATAATCACAAGTAGGAGGTTCATAATTGCATGCAATTTTATTTATAAACAAAAGAATTTCGCAATTGGGATCAACATGTTCAAGGAATAGTGATGACTTGCCTTGCTCGAGGTCTTGCGGGTCTTGGCCTTCACCTGGATCCGCGGCTCCCTCGGTCTCTATAGTTACGTGCGAAAATTGATTTGAATTCGGTTAGAATTCAAATAAAAATCCAAGTAAATCCGAATGGAAGTCGAACGCGAAAGTCAATTCCTTTTTATTAATTTTACTATCCGCGAACTATGGCAAACCCCAATTTTGGTTTAAATTATTTTGCGGTTACAATATTTTGTTGTCGTATGTTTTTAATTTAATCTACCCTAGCATTATATCCATATATTAGGTTAGAAATTTCTTATCGCGAGCTAAATGTCGGGCGGAATCCTAAAATTATCTTATAATATTATACGACTTAATTTAGTCTATGATTAAATATAATACACGGTTAACACCCTAGTAATTAAATCCGAATCGCTACCGTTGATCGATTATTTATAGAGATTACCCAGAAATAATCCACAATAATTTACGAGAATTCATACATTTGTTTAATTATTAATTACATCTAAATTAATACCGCGAATTGATTTCTTATGGAGAGTACTAAAAGTTATCTATAATCTATAGGAATTTATCCCATTATATTTTCATTAATCCTATATTTAAATGCTAGTATTTTAGGTATTTAATTAGTAAGAGTTTATCTAACTATATTTTCATTAATCCTACAATTAAATTCTAATATTTGCAAATATTTTAAATTTCCCCCTAAATTTTTCTTTCTCTTTTTCTTTCCCTTTTTCCTCTCCTCTCTTTTCTTTTCTTTTTTCTTTCTCTCCCTTTCTTTTCTTTTCTCTCCTGGCTTCCTCCTCCCTTCCTCTCCTTCTCTTTCTCGGCTCTCCCTCTCTTTCTCTCGGCTCTCTCTCTTTCCCACCCGAGCGGTGGCGGCGGCGGACTCGAGGGAAACGGAGGGCGACTCATCGGCGGCGGCAGCGGCGATGACGGCGGCAGCGACGGCGGCGCACGGTGGCGCGAGAACGGCGGTGCGGGCACGGAAACGGTCGGCGCGGCAGCACGACGGCGGCGGTGCGGCGGCACTACGATGGCGGCGCGACGGCGTGGAGGAGTGGGTGGTGGAGACGGGGAGAAGGGGGGGGGAATAGTGAGGCTTTTATAGGGGAAGGGAGAGAGATAAGGGGGAAGGAGGAGGAGGGAAGAGGGAAGAGGGGAAGAGGGGAAGAAGAAGAGGGGAAAGAGAGGAGGGGGAGGGGCGGCGACGCGGCTGCGGTGACGGGATGGCGGCGCGGGGCTCGGCGCGCGGCGGGACGCGAGACGCGACGGCGACGGATGAGCGGCGACGGGACGGCGACGCGACGGGCGACGGCGCGCGGCGATGGCGACGAGCGGGCGGCGCGGCGCGGGGCTCGGAGCGGCTCGGCGCGGGAGGGGACGGCGACGCGACGGGCGGTGACGGGGTGCGTGGGCGCGCGGGGCGAGGTGGCAGGCGGCGATGGGACGGCGACGCGACACGGGACGGCGACGCGACGGGCGGTGACGGGGTGCGTGGGCGCGCGGGGCGAGGTGGCAGGCGGCGATGGGACGGCGACGCGACACGGGACGGCGACGCGACGGCGACGGTGATGCGACGGCGAGCGACGCGGCAGAGGGGAGGCGGAGCGGCGCGCGTGGCAGGGGAGGGGAAAGGCTGGGGACCAGGTCGAACACGTGGCGGGCAATGAACAGTGCACTTTTCCAATAAACCGATTTTAGAGTGTTTCTCATATGAATTTGATTCCGAAATTCTTAATTTTTTGCATAAATGAAGTTTTACCCCATATTTATATTATTCTAACTAAAGATTCACCTAATTTAATATCACTCATATTTTGTTTATATAATTCATTTGAATTTTTAATTAAAGTTAATTCTCATTCCATCGTATTAAAATTTAATTGTTGTTAATATGGTTGCGATAACATTTTATTTATTTCCAAACCCACCTAATCTTTATTTTAATTTATATTTTAATTATTTATTTAGCCCACTTGATTTTTAGGGTTTATTCCTAGTTAATTTCCTCCCATTTGTGATCGATGAAATCCGAAATCAAAATCCAATAAAATCTTCGAATAAAATTGGCATGATGCAATTTATTTAAAAAGTTTTTTTTTTTTTGAAGATCAGAATTTTTTTGGAGTCTTTGATTTTGTTGGTCGAATTTTCAGAATGTTACA:Chr10_15693-Chr10_15693 1/1:NA:3829:0,0:+-:57:INS:Sniffles2.INS.0S9:N:GTTAATGTGGACCCCCGTTTTTATAACAGGAATCAATCGTGTAAACAGTACCATTTCCCTGGATCAAGTAGTTTGGTACACACGAATTCATAGCTGGAATATCAAGTGCACATACACGAGTGTTTAATACGAATTATTACATCATAGGCCCGCAGGCATAGCCTTAAATCATCGGACCGAGAGGTCCGGAATACATCCAAAAGCAGAAATAGATAAGGCAGCGGAATTCAGGCAGCGGCATGCCATTGCCACAGGCAACGACCGTGCTAAGACCTACTGGACGCCATCGTCTTCATCTCCTTCCTGATAATAGGCATAGGGATCCTCCGAGGCTTCATCTCCCACTTCTGATAAATTTTATATTTGCAAGGATGAGTACCAACCGTACTCAGCAAGCCACCACAGCAACAATGCATATGAAAGGGGGAGTTCAAAGGATGGCCATAGTTCTTTTGCGCAAAGCAAGTTTTGTAATTCTTTTCACAAGCCTAAGACCTAGCATTGACTGATCAAATTTTTAGTACCAGAGTTTGTATTTAAACAACGACGGTTCTGTCCACCATCCATTGTGATCCCAAAGCTTCCCGCCATTGATTCGTCATGGTTTTCTGAGGACGTCCACCTTCCCGCCTCTCAGGAAGTGGCTCCAACAGCATAAAATTCATCATGCAATATCCCATCCCACACAAGTTAAGAATTTAGAGTCTAGCCAAGTGTAATACATGTCCCGGTGCTCAATAACCGCGAGCACGGCTATTCGAATAGGTTTGGTTTACTCACACTGCAGTGGATGTACACTTTACCCGCACTCCGCGACTGCCCAACACATGAGCCTCGTCCCAACACATGAGACGCGTCACGGCAAAGCTTTTCGATAACCTCGCATTGGCAGTACCCGCTCCAGGGAACTTTTCATCCTCATGCACTCTAGGAATACACGGTTTCTAGCAGTGAGAGGAGTTCTGGCGCACCCGGGAAGGGAAGACTCACACATGCATTAAGTTATAATTATGTTTTAGATTCTCACATGGCAGTCCTACCGATGGCGACACCACTGTAGACACCCTCCTCGCGGTCCTACCAATGGCTGCCCCACCGTAGAGCCCCTGCCTCACACATCAAGAAACCACTATGCATGGATACTGCCTCCGCTCAGCTATCTACTCCGCTAGGTCTATACCCATACGAGAAGTGCGGTTGTACGGGGGTCGTTTCATGCTTAACCTCATGGCTCGGTCCTTAATTGACCAGGGACGGCACTAGCCTTTTCCGGACACCACCCAAGTCCTCCAGCCGCCCCAGTCGAAAACAGTTGTTTTACTTTATTTTCCTTTCACAAATTATGTCATCAATATCATGGCAATGTGGCGCTCATGTCTCCACATGCCGCATCTCAATTACCTTCCCAAAGGTAATTGCCCAAGCATATAGCATTTGATAAATATGAGTATGCATGAATCTAAAATAGCATTTCTAAGCAAGTGTCATAGTTGACTAGGGACTCGTACGTATCCATGGTTACAAAGATTTAAAGGTGAACAATAATCAAGGCATGGCATAATCACAAGTAGGAGGTTCATAATTGCATGCAATTTTATTTATAAACAAAAGAATTTCGCAATTGGGATCAACATGTTCAAGGAATAGTGATGACTTGCCTTGCTCGAGGTCTTGCGGGTCTTGGCCTTCACCTGGATCCGCGGCTCCCTCGGTCTCTATAGTTACGTGCGAAAATTGATTTGAATTCGGTTAGAATTCAAATAAAAATCCAAGTAAATCCGAATGGAAGTCGAACGCGAAAGTCAATTCCTTTTTATTAATTTTACTATCCGCGAACTATGGCAAACCCCAATTTTGGTTTAAATTATTTTGCGGTTACAATATTTTGTTGTCGTATGTTTTTAATTTAATCTACCCTAGCATTATATCCATATATTAGGTTAGAAATTTCTTATCGCGAGCTAAATGTCGGGCGGAATCCTAAAATTATCTTATAATATTATACGACTTAATTTAGTCTATGATTAAATATAATACACGGTTAACACCCTAGTAATTAAATCCGAATCGCTACCGTTGATCGATTATTTATAGAGATTACCCAGAAATAATCCACAATAATTTACGAGAATTCATACATTTGTTTAATTATTAATTACATCTAAATTAATACCGCGAATTGATTTCTTATGGAGAGTACTAAAAGTTATCTATAATCTATAGGAATTTATCCCATTATATTTTCATTAATCCTATATTTAAATGCTAGTATTTTAGGTATTTAATTAGTAAGAGTTTATCTAACTATATTTTCATTAATCCTACAATTAAATTCTAATATTTGCAAATATTTTAAATTTCCCCCTAAATTTTTCTTTCTCTTTTTCTTTCCCTTTTTCCTCTCCTCTCTTTTCTTTCTTTTTTCTTTCTCTCCCTTTCTTTTCTTTTCTCTCCTGGCTTCCTCCTCCCTTCCTCTCCTTCTCTTTCTCGGCTCTCCCTCTCTTTCTCTCGGCTCTCTCTCTTTCCCACCCGAGCGGTGGCGGCGGCGGACTCGAGGGAAACGGAGGGCGACTCATCGGCGGCGGCAGCGGCGATGACGGCGGCAGCGACGGCGGCGCACGGTGGCGCGAGAACGGCGGTGCGGGCACGGAAACGGTCGGCGCGGCAGCACGACGGCGGCGGTGCGGCGGCACTACGATGGCGGCGCGACGGCGTGGAGGAGTGGGTGGTGGAGACGGGGAGAAGGGGGGGGAATAGTGAGGCTTTTATAGGGGAAGGGAGAGAGATAAGGGGGAAGGAGGAGGAGGGAAGAGGGAAGAGGGGAAGAGGGGAAGAAGAAGAGGGGAAAGAGAGGAGGGGGAGGGGCGGCGACGCGGCTGCGGTGACGGGATGGCGGCGCGGGGCTCGGCGCGCGGCGGGACGCGAGACGCGACGGCGACGGATGAGCGGCGACGGGACGGCGACGCGACGGGCGACGGCGCGCGGCGATGGCGACGAGCGGGCGGCGCGGCGCGGGGCTCGGAGCGGCTCGGCGCGGGAGGGGACGGCGACGCGACGGGCGGTGACGGGGTGCGTGGGCGCGCGGGGCGAGGTGGCAGGCGGCGATGGGACGGCGACGCGACACGGGACGGCGACGCGACGGGCGGTGACGGGGTGCGTGGGCGCGCGGGGCGAGGTGGCAGGCGGCGATGGGACGGCGACGCGACACGGGACGGCGACGCGACGGCGACGGTGATGCGACGGCGAGCGACGCGGCAGAGGGGAGGCGGAGCGGCGCGCGTGGCAGGGGAGGGGAAAGGCTGGGGACCAGGTCGAACACGTGGCGGGCAATGAACAGTGCACTTTTCCAATAAACCGATTTTAGAGTGTTTCTCATATGAATTTGATTCCGAAATTCTTAATTTTTTGCATAAATGAAGTTTTACCCCATATTTATATTATTCTAACTAAAGATTCACCTAATTTAATATCACTCATATTTTGTTTATATAATTCATTTGAATTTTTAATTAAAGTTAATTCTCATTCCATCGTATTAAAATTTAATTGTTGTTAATATGGTTGCGATAACATTTTATTTATTTCCAAACCCACCTAATCTTTATTTTAATTTATATTTTAATTATTTATTTAGCCCACTTGATTTTTAGGGTTTATTCCTAGTTAATTTCCTCCCATTTGTGATCGATGAAATCCGAAATCAAAATCCAATAAAATCTTCGAATAAAATTGGCATGATGCAATTTATTTAAAAAGTTTTTTTTTTTTTTGAAGATCAGAATTTTTTTGGAGTCTTTGATTTTGTTGGTCGAATTTTCAGAATGTTACA:Chr10_15694-Chr10_15694
Chr10   15694   svim.BND.21671  N       N[Chr5:29772388[        13      PASS    SUPP=2;SUPP_VEC=1100;SVLEN=0;SVTYPE=TRA;SVMETHOD=SURVIVOR1.0.7;CHR2=Chr5;END=29772387;CIPOS=0,0;CIEND=0,1;STRANDS=++    GT:PSV:LN:DR:ST:QV:TY:ID:RAL:AAL:CO     0/1:NA:29756694:22,10:++:13:TRA:cuteSV.BND.1288:NA:NA:Chr10_15694-Chr5_29772388 ./.:NA:29756693:0,0:++:11:TRA:svim.BND.21671:NA:NA:Chr10_15694-Chr5_29772387    ./.:NaN:0:0,0:--:NaN:NaN:NaN:NAN:NAN:NAN        ./.:NaN:0:0,0:--:NaN:NaN:NaN:NAN:NAN:NAN
Chr10   15699   svim.BND.21672  N       N[Chr5:29768562[        56      PASS    SUPP=3;SUPP_VEC=1101;SVLEN=0;SVTYPE=TRA;SVMETHOD=SURVIVOR1.0.7;CHR2=Chr5;END=29768562;CIPOS=0,1;CIEND=-1,0;STRANDS=++   GT:PSV:LN:DR:ST:QV:TY:ID:RAL:AAL:CO     0/1:NA:29752862:22,10:++:13:TRA:cuteSV.BND.1289:NA:NA:Chr10_15700-Chr5_29768562 ./.:NA:29752863:0,0:++:8:TRA:svim.BND.21672:NA:NA:Chr10_15699-Chr5_29768562     ./.:NaN:0:0,0:--:NaN:NaN:NaN:NAN:NAN:NAN        0/1:NA:29752861:0,0:++:56:TRA:Sniffles2.BND.635S9:NA:NA:Chr10_15700-Chr5_29768561

truvari merged file: only the insertion remain, the two traslocation are discarded

Thanks for your work

leone93 avatar Mar 17 '24 15:03 leone93