Mendel,MD | Dashboard

Name: dados_brutos_saude
Variants: 50855
Novel Variants: 49593 (Not in latest DbSNP Build)

Type	Total Variants
Total SNVs	50855	2505 0\|1	30031 0/1	284 1/0	1271 1\|1	16764 1/1
Total Gene-associated SNVs	50855	2505 0\|1	30031 0/1	284 1/0	1271 1\|1	16764 1/1

Type	Total Variants
	377
CODON_CHANGE_PLUS_CODON_DELETION	6
CODON_CHANGE_PLUS_CODON_INSERTION	8
CODON_DELETION	8
CODON_INSERTION	17
FRAME_SHIFT	115
FRAME_SHIFT+SPLICE_SITE_REGION	7
FRAME_SHIFT+STOP_GAINED	6
FRAME_SHIFT+STOP_LOST	1
MOTIF_DELETED	1
MOTIF[MA0003.1:Ap2alpha]	3
MOTIF[MA0016.1:RXRA]	1
MOTIF[MA0036.1:Gata2]	1
MOTIF[MA0047.2:FOXA2]	1
MOTIF[MA0058.1:Max]	10
MOTIF[MA0059.1:Cmyc]	1
MOTIF[MA0062.2:Gabp]	9
MOTIF[MA0079.1:SP1]	1
MOTIF[MA0079.2:SP1]	4
MOTIF[MA0080.2:PU1]	1
MOTIF[MA0093.1:USF1]	5
MOTIF[MA0095.1:Yy1]	1
MOTIF[MA0099.2:AP1]	2
MOTIF[MA0114.1:HNF4A]	3
MOTIF[MA0138.2:Nrsf]	3
MOTIF[MA0139.1:CTCF]	27
MOTIF[MA0147.1:Cmyc]	2
MOTIF[MA0148.1:FOXA1]	4
MOTIF[MA0154.1:EBF]	3
MOTIF[MA0162.1:Egr1]	4
NON_SYNONYMOUS_CODING	976
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	33
PROTEIN_STRUCTURAL_INTERACTION_LOCUS	24
SPLICE_SITE_REGION	5
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION	1
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_INSERTION	1
SPLICE_SITE_REGION+CODON_INSERTION	1
SPLICE_SITE_REGION+SYNONYMOUS_CODING	17
START_GAINED	27
START_LOST	2
STOP_GAINED	43
STOP_GAINED+CODON_CHANGE_PLUS_CODON_DELETION	1
STOP_GAINED+CODON_CHANGE_PLUS_CODON_INSERTION	1
STOP_GAINED+SPLICE_SITE_REGION	1
STOP_LOST	4
SYNONYMOUS_CODING	882
SYNONYMOUS_START	1
None	0

Type	Total Variants
None	0