Mendel,MD | Dashboard

Name: mk264 final
Variants: 96395
Novel Variants: 1145 (Not in latest DbSNP Build)

Type	Total Variants
Total SNVs	96395	54023 0/1	42196 1/1	176 1/2
Total Gene-associated SNVs	96395	54023 0/1	42196 1/1	176 1/2

Type	Total Variants
CODON_CHANGE_PLUS_CODON_DELETION	140
CODON_CHANGE_PLUS_CODON_INSERTION	89
CODON_DELETION	46
CODON_INSERTION	71
FRAME_SHIFT	248
FRAME_SHIFT+SPLICE_SITE_REGION	41
FRAME_SHIFT+START_LOST	5
FRAME_SHIFT+STOP_GAINED	5
FRAME_SHIFT+STOP_LOST	4
GENE_FUSION	1
GENE_FUSION_REVERESE	2
MOTIF_DELETED	9
MOTIF[MA0003.1:Ap2alpha]	14
MOTIF[MA0014.1:Pax5]	3
MOTIF[MA0016.1:RXRA]	2
MOTIF[MA0024.1:E2F1]	2
MOTIF[MA0035.2:Gata1]	1
MOTIF[MA0036.1:Gata2]	1
MOTIF[MA0047.2:FOXA2]	1
MOTIF[MA0058.1:Max]	9
MOTIF[MA0059.1:Cmyc]	2
MOTIF[MA0062.1:Gabp]	1
MOTIF[MA0062.2:Gabp]	20
MOTIF[MA0079.1:SP1]	1
MOTIF[MA0079.2:SP1]	15
MOTIF[MA0080.2:PU1]	1
MOTIF[MA0083.1:Srf]	1
MOTIF[MA0093.1:USF1]	2
MOTIF[MA0095.1:Yy1]	8
MOTIF[MA0099.1:Cfos]	1
MOTIF[MA0099.2:AP1]	2
MOTIF[MA0114.1:HNF4A]	6
MOTIF[MA0138.2:Nrsf]	3
MOTIF[MA0139.1:CTCF]	66
MOTIF[MA0140.1:Tal1]	2
MOTIF[MA0147.1:Cmyc]	9
MOTIF[MA0148.1:FOXA1]	1
MOTIF[MA0154.1:EBF]	1
MOTIF[MA0159.1:RXR]	1
MOTIF[MA0162.1:Egr1]	18
NON_SYNONYMOUS_CODING	10891
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	226
PROTEIN_PROTEIN_INTERACTION_LOCUS	4
PROTEIN_STRUCTURAL_INTERACTION_LOCUS	243
SPLICE_SITE_REGION	31
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION	1
SPLICE_SITE_REGION+CODON_DELETION	1
SPLICE_SITE_REGION+CODON_INSERTION	1
SPLICE_SITE_REGION+SYNONYMOUS_CODING	234
START_GAINED	210
START_LOST	15
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION	1
STOP_GAINED	110
STOP_GAINED+CODON_INSERTION	1
STOP_GAINED+SPLICE_SITE_REGION	4
STOP_LOST	20
STOP_LOST+SPLICE_SITE_REGION	2
SYNONYMOUS_CODING	11381
SYNONYMOUS_STOP	12
None	0

Type	Total Variants
None	0