Mendel,MD | Dashboard

Name: s_25_17 haplotypecaller filtered
Variants: 105978
Novel Variants: 103738 (Not in latest DbSNP Build)

Type	Total Variants
Total SNVs	105978	67262 0/1	38063 1/1	653 1/2
Total Gene-associated SNVs	105978	67262 0/1	38063 1/1	653 1/2

Type	Total Variants
	783
CODON_CHANGE_PLUS_CODON_DELETION	14
CODON_CHANGE_PLUS_CODON_INSERTION	8
CODON_DELETION	14
CODON_INSERTION	7
FRAME_SHIFT	284
FRAME_SHIFT+SPLICE_SITE_REGION	9
FRAME_SHIFT+START_LOST	1
FRAME_SHIFT+STOP_GAINED	5
FRAME_SHIFT+STOP_LOST	1
MOTIF[MA0003.1:Ap2alpha]	7
MOTIF[MA0014.1:Pax5]	1
MOTIF[MA0016.1:RXRA]	2
MOTIF[MA0024.1:E2F1]	2
MOTIF[MA0035.2:Gata1]	1
MOTIF[MA0047.1:FOXA2]	1
MOTIF[MA0047.2:FOXA2]	4
MOTIF[MA0058.1:Max]	10
MOTIF[MA0059.1:Cmyc]	4
MOTIF[MA0062.1:Gabp]	1
MOTIF[MA0062.2:Gabp]	8
MOTIF[MA0065.1:PPARG]	3
MOTIF[MA0079.1:SP1]	3
MOTIF[MA0079.2:SP1]	12
MOTIF[MA0080.2:PU1]	3
MOTIF[MA0093.1:USF1]	3
MOTIF[MA0095.1:Yy1]	3
MOTIF[MA0099.1:Cfos]	2
MOTIF[MA0099.2:AP1]	6
MOTIF[MA0105.1:NFKB]	1
MOTIF[MA0114.1:HNF4A]	5
MOTIF[MA0138.2:Nrsf]	4
MOTIF[MA0139.1:CTCF]	55
MOTIF[MA0140.1:Tal1]	1
MOTIF[MA0147.1:Cmyc]	10
MOTIF[MA0148.1:FOXA1]	6
MOTIF[MA0154.1:EBF]	4
MOTIF[MA0159.1:RXR]	5
MOTIF[MA0162.1:Egr1]	5
NON_SYNONYMOUS_CODING	1372
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	35
PROTEIN_STRUCTURAL_INTERACTION_LOCUS	50
SPLICE_SITE_REGION	16
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION	2
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_INSERTION	1
SPLICE_SITE_REGION+SYNONYMOUS_CODING	29
START_GAINED	53
START_LOST	6
STOP_GAINED	54
STOP_GAINED+CODON_CHANGE_PLUS_CODON_INSERTION	1
STOP_GAINED+SPLICE_SITE_REGION	2
STOP_LOST	1
SYNONYMOUS_CODING	1126
SYNONYMOUS_START	2
SYNONYMOUS_STOP	2
None	0

Type	Total Variants
None	0