Hello,
I am checking some examples, and I see that in some loci present in the JSON file, you have more repeat units and more regions, but this is not shown in the UI,
"Gene": "CNBP", "GeneId": "ENSG00000169714", "GeneName": "CNBP", "GeneRegion": "intron", "Inheritance": "AD", "LocusId": "CNBP", "LocusStructure": "(CAGG)*(CAGA)*(CA)*", "MainReferenceRegion": "chr3:129172576-129172656", "ReferenceRegion": [ "chr3:129172576-129172656", "chr3:129172656-129172696", "chr3:129172696-129172732" ], "ReferenceRepeatUnit": "CAGG", "RepeatUnit": "CAGG", "STRchiveName": "DM2_CNBP", "STRipyName": "CNBP", "VariantId": [ "CNBP", "CNBP_CAGA", "CNBP_CA" ], "VariantType": [ "Repeat", "Repeat", "Repeat" ],
CNBP, why are you not showing it?
If I have in my VCF
chr3 129172696 . A <STR45>,<STR48> . PASS END=129172732;REF=18;RL=36;RU=CA;VARID=CNBP_CA;REPID=CNBP_CA GT:SO:REPCN:REPCI:ADSP:ADFL:ADIR:LC 1/2:SPANNING/SPANNING:21/27:21-21/27-27:6/2:24/26:0/0:32.922288
should I check directly the JSON, or you don’t show it, because it is intronic and I should not rely on this variant?
I asked on GitHubhttps://github.com/broadinstitute/gnomad-browser/issues/1770 but didn’t receive an answer; maybe you have some insights here.
thanks a lot!