Name: bm011
Variants: 438788
Novel Variants: 9634 (Not in latest DbSNP Build)

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION103
CODON_CHANGE_PLUS_CODON_INSERTION64
CODON_DELETION53
CODON_INSERTION67
FRAME_SHIFT283
FRAME_SHIFT+SPLICE_SITE_REGION40
FRAME_SHIFT+START_LOST9
FRAME_SHIFT+STOP_GAINED10
FRAME_SHIFT+STOP_LOST2
GENE_FUSION1
MOTIF_DELETED2
MOTIF[MA0003.1:Ap2alpha]14
MOTIF[MA0014.1:Pax5]6
MOTIF[MA0016.1:RXRA]3
MOTIF[MA0024.1:E2F1]3
MOTIF[MA0035.1:Gata1]1
MOTIF[MA0036.1:Gata2]5
MOTIF[MA0047.1:FOXA2]2
MOTIF[MA0047.2:FOXA2]9
MOTIF[MA0058.1:Max]16
MOTIF[MA0059.1:Cmyc]8
MOTIF[MA0062.1:Gabp]9
MOTIF[MA0062.2:Gabp]30
MOTIF[MA0065.1:PPARG]1
MOTIF[MA0065.2:PPARG]2
MOTIF[MA0079.1:SP1]8
MOTIF[MA0079.2:SP1]32
MOTIF[MA0080.1:PU1]5
MOTIF[MA0080.2:PU1]9
MOTIF[MA0083.1:Srf]1
MOTIF[MA0093.1:USF1]26
MOTIF[MA0095.1:Yy1]11
MOTIF[MA0099.1:Cfos]4
MOTIF[MA0099.2:AP1]10
MOTIF[MA0105.1:NFKB]2
MOTIF[MA0114.1:HNF4A]15
MOTIF[MA0115.1:RNR1H2]2
MOTIF[MA0138.1:Nrsf]4
MOTIF[MA0138.2:Nrsf]10
MOTIF[MA0139.1:CTCF]176
MOTIF[MA0140.1:Tal1]4
MOTIF[MA0147.1:Cmyc]12
MOTIF[MA0148.1:FOXA1]5
MOTIF[MA0154.1:EBF]10
MOTIF[MA0159.1:RXR]2
MOTIF[MA0162.1:Egr1]35
NON_SYNONYMOUS_CODING12516
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION273
NON_SYNONYMOUS_START3
PROTEIN_PROTEIN_INTERACTION_LOCUS3
PROTEIN_STRUCTURAL_INTERACTION_LOCUS306
SPLICE_SITE_REGION123
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_INSERTION1
SPLICE_SITE_REGION+CODON_DELETION2
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING314
START_GAINED448
START_LOST17
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION1
STOP_GAINED122
STOP_GAINED+CODON_CHANGE_PLUS_CODON_INSERTION1
STOP_GAINED+CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION3
STOP_LOST25
STOP_LOST+SPLICE_SITE_REGION2
SYNONYMOUS_CODING13343
SYNONYMOUS_STOP7
TRANSCRIPT1
None0

Type Total Variants
2015
MISSENSE12836
NONSENSE125
SILENT13664
None0

Type Total Variants
HIGH826
LOW14437
MODERATE13081
MODIFIER296
None0

Type Total Variants
.51215
PASS258680
VQSRTrancheSNP85.00to90.0021653
VQSRTrancheSNP90.00to97.0049513
VQSRTrancheSNP97.00to98.005634
VQSRTrancheSNP98.00to99.009576
VQSRTrancheSNP99.00to99.304087
VQSRTrancheSNP99.30to99.401599
VQSRTrancheSNP99.40to99.501787
VQSRTrancheSNP99.50to99.602061
VQSRTrancheSNP99.60to99.805905
VQSRTrancheSNP99.80to99.906284
VQSRTrancheSNP99.90to99.956726
VQSRTrancheSNP99.95to100.0014068

Quality Value
Min10.27
Average6307.85612658026
Max4054410.0

Read Depth Value
Min0
Average10.451409336627256
Max2968

Type Total Variants
None0

Chromossome Total Variants
139228
1020462
1121684
1220998
1311481
1414422
1513904
1617315
1716761
189709
1918240
234091
2011272
218898
228246
327889
425038
523107
627307
724415
819168
917663
X5387
Y2103