Mendel,MD | Dashboard

Name: mk268 final
Variants: 95995
Novel Variants: 1021 (Not in latest DbSNP Build)

Type	Total Variants
Total SNVs	95995	57436 0/1	38415 1/1	144 1/2
Total Gene-associated SNVs	95995	57436 0/1	38415 1/1	144 1/2

Type	Total Variants
CODON_CHANGE_PLUS_CODON_DELETION	139
CODON_CHANGE_PLUS_CODON_INSERTION	94
CODON_DELETION	47
CODON_INSERTION	74
FRAME_SHIFT	238
FRAME_SHIFT+SPLICE_SITE_REGION	40
FRAME_SHIFT+START_LOST	5
FRAME_SHIFT+START_LOST+SPLICE_SITE_REGION	1
FRAME_SHIFT+STOP_GAINED	6
FRAME_SHIFT+STOP_LOST	4
GENE_FUSION_REVERESE	1
MOTIF_DELETED	1
MOTIF[MA0003.1:Ap2alpha]	17
MOTIF[MA0014.1:Pax5]	3
MOTIF[MA0016.1:RXRA]	3
MOTIF[MA0024.1:E2F1]	1
MOTIF[MA0035.2:Gata1]	1
MOTIF[MA0058.1:Max]	7
MOTIF[MA0059.1:Cmyc]	3
MOTIF[MA0062.1:Gabp]	4
MOTIF[MA0062.2:Gabp]	27
MOTIF[MA0079.1:SP1]	1
MOTIF[MA0079.2:SP1]	16
MOTIF[MA0080.1:PU1]	1
MOTIF[MA0080.2:PU1]	1
MOTIF[MA0093.1:USF1]	2
MOTIF[MA0095.1:Yy1]	8
MOTIF[MA0099.1:Cfos]	2
MOTIF[MA0099.2:AP1]	2
MOTIF[MA0114.1:HNF4A]	6
MOTIF[MA0138.2:Nrsf]	7
MOTIF[MA0139.1:CTCF]	74
MOTIF[MA0140.1:Tal1]	1
MOTIF[MA0147.1:Cmyc]	11
MOTIF[MA0148.1:FOXA1]	2
MOTIF[MA0154.1:EBF]	1
MOTIF[MA0162.1:Egr1]	17
NON_SYNONYMOUS_CODING	10992
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	246
PROTEIN_PROTEIN_INTERACTION_LOCUS	2
PROTEIN_STRUCTURAL_INTERACTION_LOCUS	249
SPLICE_SITE_REGION	36
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	253
START_GAINED	225
START_LOST	10
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION	1
STOP_GAINED	110
STOP_GAINED+CODON_INSERTION	1
STOP_GAINED+SPLICE_SITE_REGION	3
STOP_LOST	22
STOP_LOST+SPLICE_SITE_REGION	3
SYNONYMOUS_CODING	11562
SYNONYMOUS_STOP	9
TRANSCRIPT	1
None	0

Type	Total Variants
None	0