Histogram views are shown when there are more than 50 features on a single chromosome. Please click on the histogram to view individual features at that position.

{"SNV":[{"remapped_from":null,"contribution":"Full","ref_allele":"C","user_hgvs":null,"original_position":null,"confirmed_by":"Sequencing","patient_snv_id":109,"ensembl_transcript":"ENST00000346085","updated":"2016-11-02 10:19:09","intergenic":0,"chr":"6","gene_name":"ARID1B","remap_value":null,"created":"2014-07-02 09:07:52","user_gene":"ARID1B","inheritance":"De novo constitutive","end":157528051,"id":109,"genotype":"Heterozygous","annotated":1,"feedback":"Yes","start":157528051,"public":1,"vep_category":"Likely LOF","user_transcript":"ENST00000346085","patient_id":257854,"vep_consequence":"stop_gained","pathogenicity":"Pathogenic","assembly":"GRCh37/hg19","refseq_transcript":null,"shared":"public","pathogenicity_percentage":99,"alt_allele":"T","validation":"Validated"}]}
{"SNV":[{"alt_allele":"T","validation":"Validated","pathogenicity_percentage":87,"shared":"public","refseq_transcript":"NM_138732.2","assembly":"GRCh37/hg19","pathogenicity":"Uncertain","vep_consequence":"missense_variant","patient_id":257854,"vep_category":"Protein Changing","user_transcript":"ENST00000377559","public":1,"start":64428503,"annotated":1,"feedback":"Yes","genotype":"Heterozygous","id":110,"end":64428503,"inheritance":"De novo constitutive","user_gene":"NRXN2","remap_value":null,"created":"2014-07-02 09:07:52","chr":"11","gene_name":"NRXN2","intergenic":0,"updated":"2017-03-08 18:51:55","ensembl_transcript":"ENST00000377559","confirmed_by":"Sequencing","patient_snv_id":110,"original_position":null,"user_hgvs":null,"ref_allele":"C","contribution":"None","remapped_from":null}]}
{"SNV":[{"user_hgvs":null,"original_position":null,"patient_snv_id":1892,"confirmed_by":"None","ref_allele":"T","contribution":"None","remapped_from":null,"end":2122326,"id":1892,"user_gene":"TSC2","inheritance":"De novo constitutive","gene_name":"TSC2","chr":"16","created":"2015-02-25 13:30:00","remap_value":null,"updated":"2016-11-05 02:15:08","ensembl_transcript":"ENST00000219476","intergenic":0,"vep_category":"Protein Changing","user_transcript":"ENST00000219476","public":1,"feedback":"Yes","annotated":1,"start":2122326,"genotype":"Heterozygous","shared":"public","validation":"Not Applicable","alt_allele":"G","pathogenicity_percentage":50,"refseq_transcript":null,"assembly":"GRCh37/hg19","pathogenicity":"Uncertain","patient_id":257854,"vep_consequence":"missense_variant"}]}

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