Name: 2039528
Variants: 206616
Novel Variants: 18833 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 206616 96727 0/1 109232 1/1 583 1/2 74 2/1
Total Gene-associated SNVs 206616 96727 0/1 109232 1/1 583 1/2 74 2/1

Type Total Variants
35
CODON_CHANGE_PLUS_CODON_DELETION96
CODON_CHANGE_PLUS_CODON_INSERTION83
CODON_DELETION122
CODON_INSERTION124
EXON_DELETED3
FRAME_SHIFT287
FRAME_SHIFT+SPLICE_SITE_REGION49
FRAME_SHIFT+START_LOST1
FRAME_SHIFT+STOP_GAINED5
FRAME_SHIFT+STOP_GAINED+SPLICE_SITE_REGION2
FRAME_SHIFT+STOP_LOST7
GENE_FUSION1
MOTIF_DELETED8
MOTIF[MA0003.1:Ap2alpha]31
MOTIF[MA0014.1:Pax5]10
MOTIF[MA0016.1:RXRA]4
MOTIF[MA0024.1:E2F1]8
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0036.1:Gata2]1
MOTIF[MA0058.1:Max]25
MOTIF[MA0059.1:Cmyc]7
MOTIF[MA0062.1:Gabp]8
MOTIF[MA0062.2:Gabp]41
MOTIF[MA0065.1:PPARG]1
MOTIF[MA0065.2:PPARG]1
MOTIF[MA0079.1:SP1]13
MOTIF[MA0079.2:SP1]43
MOTIF[MA0080.1:PU1]5
MOTIF[MA0080.2:PU1]8
MOTIF[MA0083.1:Srf]1
MOTIF[MA0093.1:USF1]9
MOTIF[MA0095.1:Yy1]13
MOTIF[MA0099.1:Cfos]1
MOTIF[MA0099.2:AP1]1
MOTIF[MA0114.1:HNF4A]15
MOTIF[MA0138.2:Nrsf]10
MOTIF[MA0139.1:CTCF]116
MOTIF[MA0140.1:Tal1]1
MOTIF[MA0147.1:Cmyc]19
MOTIF[MA0148.1:FOXA1]2
MOTIF[MA0154.1:EBF]3
MOTIF[MA0159.1:RXR]3
MOTIF[MA0162.1:Egr1]66
NON_SYNONYMOUS_CODING11376
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION222
NON_SYNONYMOUS_START1
PROTEIN_PROTEIN_INTERACTION_LOCUS2
PROTEIN_STRUCTURAL_INTERACTION_LOCUS245
SPLICE_SITE_REGION43
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+CODON_DELETION1
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING239
START_GAINED347
START_LOST10
START_LOST+CODON_DELETION1
STOP_GAINED98
STOP_GAINED+CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION1
STOP_GAINED+SPLICE_SITE_REGION+CODON_INSERTION1
STOP_LOST24
STOP_LOST+CODON_DELETION1
STOP_LOST+SPLICE_SITE_REGION4
SYNONYMOUS_CODING11799
SYNONYMOUS_STOP11
TRANSCRIPT3
None0

Type Total Variants
1937
MISSENSE11637
NONSENSE99
SILENT12049
None0

Type Total Variants
HIGH743
LOW12685
MODERATE12026
MODIFIER268
None0

Type Total Variants
PASS192148
VQSRTrancheINDEL99.00to99.901052
VQSRTrancheINDEL99.90to100.00243
VQSRTrancheSNP99.00to99.908302
VQSRTrancheSNP99.90to100.004871

Quality Value
Min0.0
Average705.976887559591
Max66228.73

Read Depth Value
Min0
Average38.126756882332444
Max3172

Type Total Variants
None0

Chromossome Total Variants
120331
109944
1111443
1210450
134641
146019
157225
169387
1710547
184037
1911944
214796
204846
213464
224748
311340
49504
59049
611659
710695
87553
99112
M35
X3124
Y723