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Currently we assume that every variant is a focal change with a nucleotide alt sequence. This is only a subset of the VCF spec and doesn't allow us to load variants such as:
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT synthetic.challenge.set4.normal synthetic.challenge.set4.tumour
1 959526 MantaDEL:42:0:1:0:0:0 T <DEL> . MinSomaticScore END=962016;SVTYPE=DEL;SVLEN=-2490;IMPRECISE;CIPOS=-86,86;CIEND=-65,66;SOMATIC;SOMATICSCORE=18 PR 12,0 8,5
1 4932289 MantaDUP:TANDEM:263:0:1:0:0:0 A <DUP:TANDEM> . PASS END=4943947;SVTYPE=DUP;SVLEN=11658;SOMATIC;SOMATICSCORE=73 PR:SR 24,0:60,0 14,6:28,6
1 8411313 MantaDUP:TANDEM:461:0:1:0:0:0 A <DUP:TANDEM> . PASS END=8419870;SVTYPE=DUP;SVLEN=8557;SOMATIC;SOMATICSCORE=55 PR:SR 11,0:20,0 5,5:14,8
1 10856998 MantaINV:563:0:1:0:0:0 C <INV> . PASS END=10864731;SVTYPE=INV;SVLEN=7733;CIPOS=0,5;CIEND=-5,0;HOMLEN=5;HOMSEQ=CCCCC;INV3;EVENT=MantaINV:563:0:1:0:0:0;SOMATIC;SOMATICSCORE=79;JUNCTION_SOMATICSCORE=32 PR:SR 9,0:15,0 2,5:10,4
Though we probably can't do much to predict the protein sequence for most of these variants we should still be able to load them and distinguish them from focal variants.
The text was updated successfully, but these errors were encountered:
Currently we assume that every variant is a focal change with a nucleotide
alt
sequence. This is only a subset of the VCF spec and doesn't allow us to load variants such as:Though we probably can't do much to predict the protein sequence for most of these variants we should still be able to load them and distinguish them from focal variants.
The text was updated successfully, but these errors were encountered: