Name: 1581295
Variants: 327382
Novel Variants: 29067 (Not in latest DbSNP Build)

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION102
CODON_CHANGE_PLUS_CODON_INSERTION83
CODON_DELETION114
CODON_DELETION+SPLICE_SITE_REGION1
CODON_INSERTION106
CODON_INSERTION+SPLICE_SITE_REGION2
FRAME_SHIFT294
FRAME_SHIFT+SPLICE_SITE_REGION47
FRAME_SHIFT+START_LOST2
FRAME_SHIFT+STOP_GAINED4
FRAME_SHIFT+STOP_GAINED+SPLICE_SITE_REGION2
FRAME_SHIFT+STOP_LOST4
MOTIF_DELETED13
MOTIF[MA0003.1:Ap2alpha]22
MOTIF[MA0014.1:Pax5]7
MOTIF[MA0016.1:RXRA]9
MOTIF[MA0024.1:E2F1]5
MOTIF[MA0035.1:Gata1]4
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0036.1:Gata2]1
MOTIF[MA0047.1:FOXA2]1
MOTIF[MA0047.2:FOXA2]3
MOTIF[MA0058.1:Max]33
MOTIF[MA0059.1:Cmyc]8
MOTIF[MA0062.1:Gabp]6
MOTIF[MA0062.2:Gabp]35
MOTIF[MA0065.1:PPARG]5
MOTIF[MA0065.2:PPARG]2
MOTIF[MA0079.1:SP1]9
MOTIF[MA0079.2:SP1]26
MOTIF[MA0080.1:PU1]3
MOTIF[MA0080.2:PU1]9
MOTIF[MA0093.1:USF1]26
MOTIF[MA0095.1:Yy1]13
MOTIF[MA0099.1:Cfos]8
MOTIF[MA0099.2:AP1]4
MOTIF[MA0114.1:HNF4A]15
MOTIF[MA0115.1:RNR1H2]1
MOTIF[MA0138.1:Nrsf]2
MOTIF[MA0138.2:Nrsf]12
MOTIF[MA0139.1:CTCF]170
MOTIF[MA0140.1:Tal1]1
MOTIF[MA0147.1:Cmyc]11
MOTIF[MA0148.1:FOXA1]2
MOTIF[MA0154.1:EBF]12
MOTIF[MA0159.1:RXR]4
MOTIF[MA0162.1:Egr1]29
NON_SYNONYMOUS_CODING11217
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION225
PROTEIN_INTERACTION_LOCUS40
SPLICE_SITE_REGION43
SPLICE_SITE_REGION+SYNONYMOUS_CODING259
START_GAINED283
START_LOST9
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION1
STOP_GAINED106
STOP_GAINED+CODON_INSERTION1
STOP_GAINED+CODON_INSERTION+SPLICE_SITE_REGION1
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST24
STOP_LOST+SPLICE_SITE_REGION4
SYNONYMOUS_CODING11869
SYNONYMOUS_STOP7
TRANSCRIPT5
None0

Type Total Variants
1647
MISSENSE11479
NONSENSE107
SILENT12135
None0

Type Total Variants
HIGH540
LOW12688
MODERATE11850
MODIFIER290
None0

Type Total Variants
LowQual55445
PASS254447
VQSRTrancheINDEL99.00to99.901176
VQSRTrancheINDEL99.90to100.00426
VQSRTrancheSNP99.00to99.9011448
VQSRTrancheSNP99.90to100.004440

Quality Value
Min3.01
Average457.530620711987
Max54618.92

Read Depth Value
Min0
Average24.434254174023007
Max1339

Type Total Variants
None0
32
24
5|51
2|21

Chromossome Total Variants
128294
1016577
1117699
1215924
138693
1410909
1510846
1614185
1714901
187490
1914585
224092
208348
215560
227600
317733
416952
515154
614837
719235
813565
914939
X7044
Y2220