Mendel,MD | Dashboard

Name: udp2570_axeq_1_hs37d5_remdup-uniqmap
Variants: 72716
Novel Variants: 5189 (Not in latest DbSNP Build)

Type	Total Variants
Total SNVs	72716	41830 0/1	30886 1/1
Total Gene-associated SNVs	72716	41830 0/1	30886 1/1

Type	Total Variants
CODON_CHANGE_PLUS_CODON_DELETION	56
CODON_CHANGE_PLUS_CODON_INSERTION	43
CODON_DELETION	76
CODON_INSERTION	66
FRAME_SHIFT	131
FRAME_SHIFT+SPLICE_SITE_REGION	35
FRAME_SHIFT+START_LOST	1
FRAME_SHIFT+STOP_GAINED+SPLICE_SITE_REGION	2
FRAME_SHIFT+STOP_LOST	2
MOTIF[MA0003.1:Ap2alpha]	9
MOTIF[MA0014.1:Pax5]	3
MOTIF[MA0016.1:RXRA]	2
MOTIF[MA0024.1:E2F1]	1
MOTIF[MA0035.2:Gata1]	1
MOTIF[MA0036.1:Gata2]	1
MOTIF[MA0058.1:Max]	9
MOTIF[MA0059.1:Cmyc]	2
MOTIF[MA0062.1:Gabp]	2
MOTIF[MA0062.2:Gabp]	14
MOTIF[MA0079.1:SP1]	2
MOTIF[MA0079.2:SP1]	8
MOTIF[MA0080.1:PU1]	1
MOTIF[MA0080.2:PU1]	1
MOTIF[MA0083.1:Srf]	1
MOTIF[MA0093.1:USF1]	2
MOTIF[MA0095.1:Yy1]	5
MOTIF[MA0099.2:AP1]	1
MOTIF[MA0114.1:HNF4A]	4
MOTIF[MA0138.2:Nrsf]	6
MOTIF[MA0139.1:CTCF]	37
MOTIF[MA0147.1:Cmyc]	3
MOTIF[MA0148.1:FOXA1]	1
MOTIF[MA0154.1:EBF]	1
MOTIF[MA0162.1:Egr1]	11
NON_SYNONYMOUS_CODING	9662
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	203
NON_SYNONYMOUS_START	2
PROTEIN_PROTEIN_INTERACTION_LOCUS	4
PROTEIN_STRUCTURAL_INTERACTION_LOCUS	259
SPLICE_SITE_REGION	26
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION	1
SPLICE_SITE_REGION+CODON_DELETION	1
SPLICE_SITE_REGION+SYNONYMOUS_CODING	249
START_GAINED	185
START_LOST	8
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION	1
START_LOST+CODON_DELETION	1
STOP_GAINED	92
STOP_GAINED+SPLICE_SITE_REGION	2
STOP_GAINED+SPLICE_SITE_REGION+CODON_INSERTION	1
STOP_LOST	19
STOP_LOST+SPLICE_SITE_REGION	3
SYNONYMOUS_CODING	10624
SYNONYMOUS_STOP	8
TRANSCRIPT	1
None	0

Type	Total Variants
.	72716

Type	Total Variants
None	0