Mendel,MD | Dashboard

Name: 2388_2
Variants: 39426
Novel Variants: 24439 (Not in latest DbSNP Build)

Type	Total Variants
Total SNVs	39426	400 0\|1	8592 0/1	46 1\|0	1174 1\|1	29181 1/1	33 1/2
Total Gene-associated SNVs	39426	400 0\|1	8592 0/1	46 1\|0	1174 1\|1	29181 1/1	33 1/2

Type	Total Variants
	8
CODON_CHANGE_PLUS_CODON_DELETION	9
CODON_CHANGE_PLUS_CODON_INSERTION	5
CODON_DELETION	5
CODON_INSERTION	6
FRAME_SHIFT	105
FRAME_SHIFT+SPLICE_SITE_REGION	11
FRAME_SHIFT+START_LOST	2
FRAME_SHIFT+STOP_GAINED	1
MOTIF[MA0003.1:Ap2alpha]	11
MOTIF[MA0014.1:Pax5]	4
MOTIF[MA0024.1:E2F1]	5
MOTIF[MA0035.2:Gata1]	1
MOTIF[MA0058.1:Max]	7
MOTIF[MA0059.1:Cmyc]	2
MOTIF[MA0062.1:Gabp]	11
MOTIF[MA0062.2:Gabp]	20
MOTIF[MA0079.1:SP1]	3
MOTIF[MA0079.2:SP1]	13
MOTIF[MA0080.1:PU1]	2
MOTIF[MA0093.1:USF1]	2
MOTIF[MA0095.1:Yy1]	3
MOTIF[MA0099.2:AP1]	1
MOTIF[MA0114.1:HNF4A]	7
MOTIF[MA0138.1:Nrsf]	1
MOTIF[MA0138.2:Nrsf]	5
MOTIF[MA0139.1:CTCF]	22
MOTIF[MA0147.1:Cmyc]	9
MOTIF[MA0154.1:EBF]	2
MOTIF[MA0159.1:RXR]	1
MOTIF[MA0162.1:Egr1]	15
NON_SYNONYMOUS_CODING	9555
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	229
PROTEIN_PROTEIN_INTERACTION_LOCUS	6
PROTEIN_STRUCTURAL_INTERACTION_LOCUS	231
RARE_AMINO_ACID	1
SPLICE_SITE_REGION	28
SPLICE_SITE_REGION+SYNONYMOUS_CODING	92
START_GAINED	335
START_LOST	10
STOP_GAINED	741
STOP_GAINED+SPLICE_SITE_REGION	26
STOP_LOST	8
SYNONYMOUS_CODING	4457
SYNONYMOUS_STOP	1
TRANSCRIPT	1
None	0

Type	Total Variants
DRAGENIndelHardQUAL	321
DRAGENIndelHardQUAL;LowDepth	534
DRAGENSnpHardQUAL	13535
DRAGENSnpHardQUAL;LowDepth	8148
DRAGENSnpHardQUAL;LowDepth;PloidyConflict	2
DRAGENSnpHardQUAL;PloidyConflict	1
lod_fstar	5
LowDepth	7308
LowDepth;PloidyConflict	5
PASS	9566
PloidyConflict	1

Type	Total Variants
None	0