Name: qmul_trio_lof_assignment_2019
Variants: 74355
Novel Variants: 1215 (Not in latest DbSNP Build)

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION123
CODON_CHANGE_PLUS_CODON_INSERTION101
CODON_DELETION59
CODON_INSERTION74
FRAME_SHIFT272
FRAME_SHIFT+SPLICE_SITE_REGION43
FRAME_SHIFT+START_LOST6
FRAME_SHIFT+STOP_GAINED7
FRAME_SHIFT+STOP_LOST4
MOTIF_DELETED3
MOTIF[MA0003.1:Ap2alpha]8
MOTIF[MA0014.1:Pax5]2
MOTIF[MA0024.1:E2F1]3
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0058.1:Max]8
MOTIF[MA0059.1:Cmyc]1
MOTIF[MA0062.2:Gabp]19
MOTIF[MA0065.1:PPARG]1
MOTIF[MA0079.1:SP1]4
MOTIF[MA0079.2:SP1]8
MOTIF[MA0080.1:PU1]2
MOTIF[MA0080.2:PU1]1
MOTIF[MA0093.1:USF1]2
MOTIF[MA0095.1:Yy1]7
MOTIF[MA0114.1:HNF4A]5
MOTIF[MA0138.2:Nrsf]2
MOTIF[MA0139.1:CTCF]40
MOTIF[MA0147.1:Cmyc]7
MOTIF[MA0154.1:EBF]3
MOTIF[MA0162.1:Egr1]6
NON_SYNONYMOUS_CODING13334
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION262
PROTEIN_PROTEIN_INTERACTION_LOCUS6
PROTEIN_STRUCTURAL_INTERACTION_LOCUS355
SPLICE_SITE_REGION29
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_INSERTION2
SPLICE_SITE_REGION+CODON_DELETION2
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING292
START_GAINED179
START_LOST11
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION1
STOP_GAINED120
STOP_GAINED+CODON_CHANGE_PLUS_CODON_INSERTION1
STOP_GAINED+CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION2
STOP_GAINED+SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_INSERTION1
STOP_LOST27
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING14107
SYNONYMOUS_STOP12
None0

Type Total Variants
1401
MISSENSE13637
NONSENSE122
SILENT14410
None0

Type Total Variants
HIGH860
LOW14680
MODERATE13958
MODIFIER72
None0

Type Total Variants
.8
LowQual236
PASS68509
VQSRTrancheINDEL99.00to99.90309
VQSRTrancheINDEL99.90to100.0036
VQSRTrancheSNP99.00to99.903125
VQSRTrancheSNP99.90to100.002132

Quality Value
Min10.19
Average11081.3966323708
Max105064.0

Read Depth Value
Min0
Average0.0
Max0

Type Total Variants
None0

Chromossome Total Variants
17088
103183
114528
123974
131409
142668
152382
163463
174063
181226
195178
25081
201750
211035
222065
33813
42952
53095
64830
73733
82637
92922
MT38
X1226
Y16