Mendel,MD | Dashboard

Name: 4k20002_01 gatk
Variants: 93825
Novel Variants: 1809 (Not in latest DbSNP Build)

Type	Total Variants
Total SNVs	93825	55939 0/1	37520 1/1	366 1/2
Total Gene-associated SNVs	93825	55939 0/1	37520 1/1	366 1/2

Type	Total Variants
CODON_CHANGE_PLUS_CODON_DELETION	149
CODON_CHANGE_PLUS_CODON_INSERTION	101
CODON_DELETION	56
CODON_INSERTION	74
FRAME_SHIFT	317
FRAME_SHIFT+SPLICE_SITE_REGION	43
FRAME_SHIFT+START_LOST	4
FRAME_SHIFT+STOP_GAINED	8
FRAME_SHIFT+STOP_GAINED+SPLICE_SITE_REGION	1
FRAME_SHIFT+STOP_LOST	3
GENE_FUSION	1
MOTIF_DELETED	4
MOTIF[MA0003.1:Ap2alpha]	10
MOTIF[MA0014.1:Pax5]	2
MOTIF[MA0016.1:RXRA]	3
MOTIF[MA0024.1:E2F1]	1
MOTIF[MA0036.1:Gata2]	1
MOTIF[MA0047.1:FOXA2]	1
MOTIF[MA0047.2:FOXA2]	1
MOTIF[MA0058.1:Max]	12
MOTIF[MA0059.1:Cmyc]	2
MOTIF[MA0062.1:Gabp]	2
MOTIF[MA0062.2:Gabp]	24
MOTIF[MA0065.2:PPARG]	1
MOTIF[MA0079.1:SP1]	2
MOTIF[MA0079.2:SP1]	5
MOTIF[MA0080.2:PU1]	2
MOTIF[MA0093.1:USF1]	2
MOTIF[MA0095.1:Yy1]	7
MOTIF[MA0099.2:AP1]	2
MOTIF[MA0114.1:HNF4A]	3
MOTIF[MA0138.2:Nrsf]	4
MOTIF[MA0139.1:CTCF]	45
MOTIF[MA0147.1:Cmyc]	3
MOTIF[MA0148.1:FOXA1]	1
MOTIF[MA0154.1:EBF]	4
MOTIF[MA0162.1:Egr1]	24
NON_SYNONYMOUS_CODING	11832
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	254
NON_SYNONYMOUS_START	1
PROTEIN_PROTEIN_INTERACTION_LOCUS	5
PROTEIN_STRUCTURAL_INTERACTION_LOCUS	273
SPLICE_SITE_REGION	33
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_INSERTION	1
SPLICE_SITE_REGION+CODON_DELETION	2
SPLICE_SITE_REGION+CODON_INSERTION	2
SPLICE_SITE_REGION+SYNONYMOUS_CODING	263
SPLICE_SITE_REGION+SYNONYMOUS_STOP	1
START_GAINED	241
START_LOST	9
START_LOST+CODON_DELETION	1
STOP_GAINED	118
STOP_GAINED+CODON_CHANGE_PLUS_CODON_INSERTION	1
STOP_GAINED+SPLICE_SITE_REGION	3
STOP_LOST	22
STOP_LOST+SPLICE_SITE_REGION	4
SYNONYMOUS_CODING	11948
SYNONYMOUS_STOP	12
TRANSCRIPT	2
None	0

Type	Total Variants
.	93825

Type	Total Variants
None	0