Mendel,MD | Dashboard

Name: exome_tobias_qualls_7875dc_e9i96r
Variants: 93156
Novel Variants: 1313 (Not in latest DbSNP Build)

Type	Total Variants
Total SNVs	93156	57505 0/1	314 1/0	35337 1/1
Total Gene-associated SNVs	93156	57505 0/1	314 1/0	35337 1/1

Type	Total Variants
CODON_CHANGE_PLUS_CODON_DELETION	128
CODON_CHANGE_PLUS_CODON_INSERTION	97
CODON_DELETION	50
CODON_INSERTION	79
FRAME_SHIFT	246
FRAME_SHIFT+SPLICE_SITE_REGION	40
FRAME_SHIFT+START_LOST	4
FRAME_SHIFT+START_LOST+SPLICE_SITE_REGION	1
FRAME_SHIFT+STOP_GAINED	7
FRAME_SHIFT+STOP_LOST	4
GENE_FUSION	1
GENE_FUSION_REVERESE	2
MOTIF_DELETED	3
MOTIF[MA0003.1:Ap2alpha]	14
MOTIF[MA0014.1:Pax5]	3
MOTIF[MA0016.1:RXRA]	4
MOTIF[MA0024.1:E2F1]	3
MOTIF[MA0035.2:Gata1]	1
MOTIF[MA0036.1:Gata2]	1
MOTIF[MA0058.1:Max]	9
MOTIF[MA0059.1:Cmyc]	2
MOTIF[MA0062.1:Gabp]	5
MOTIF[MA0062.2:Gabp]	21
MOTIF[MA0065.1:PPARG]	1
MOTIF[MA0065.2:PPARG]	1
MOTIF[MA0079.1:SP1]	4
MOTIF[MA0079.2:SP1]	11
MOTIF[MA0080.1:PU1]	1
MOTIF[MA0080.2:PU1]	2
MOTIF[MA0093.1:USF1]	3
MOTIF[MA0095.1:Yy1]	9
MOTIF[MA0099.2:AP1]	1
MOTIF[MA0114.1:HNF4A]	5
MOTIF[MA0138.1:Nrsf]	1
MOTIF[MA0138.2:Nrsf]	5
MOTIF[MA0139.1:CTCF]	50
MOTIF[MA0140.1:Tal1]	1
MOTIF[MA0147.1:Cmyc]	6
MOTIF[MA0148.1:FOXA1]	1
MOTIF[MA0154.1:EBF]	2
MOTIF[MA0162.1:Egr1]	23
NON_SYNONYMOUS_CODING	10491
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	246
NON_SYNONYMOUS_START	2
PROTEIN_PROTEIN_INTERACTION_LOCUS	2
PROTEIN_STRUCTURAL_INTERACTION_LOCUS	250
SPLICE_SITE_REGION	28
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION	1
SPLICE_SITE_REGION+CODON_INSERTION	1
SPLICE_SITE_REGION+SYNONYMOUS_CODING	238
START_GAINED	218
START_LOST	11
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION	1
STOP_GAINED	84
STOP_GAINED+CODON_INSERTION	1
STOP_GAINED+SPLICE_SITE_REGION	2
STOP_LOST	24
STOP_LOST+SPLICE_SITE_REGION	3
SYNONYMOUS_CODING	11095
SYNONYMOUS_STOP	7
TRANSCRIPT	2
None	0

Type	Total Variants
None	0