Name: ibg-2-cgm-0130 final
Variants: 117562
Novel Variants: 114779 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 117562 75712 0/1 41402 1/1 448 1/2
Total Gene-associated SNVs 117562 75712 0/1 41402 1/1 448 1/2

Type Total Variants
708
CODON_CHANGE_PLUS_CODON_DELETION21
CODON_CHANGE_PLUS_CODON_INSERTION13
CODON_DELETION19
CODON_INSERTION9
FRAME_SHIFT294
FRAME_SHIFT+SPLICE_SITE_REGION11
FRAME_SHIFT+STOP_GAINED5
MOTIF[MA0003.1:Ap2alpha]9
MOTIF[MA0016.1:RXRA]2
MOTIF[MA0024.1:E2F1]1
MOTIF[MA0035.2:Gata1]2
MOTIF[MA0036.1:Gata2]2
MOTIF[MA0047.2:FOXA2]2
MOTIF[MA0058.1:Max]15
MOTIF[MA0059.1:Cmyc]3
MOTIF[MA0062.1:Gabp]1
MOTIF[MA0062.2:Gabp]8
MOTIF[MA0065.1:PPARG]1
MOTIF[MA0065.2:PPARG]1
MOTIF[MA0079.1:SP1]2
MOTIF[MA0079.2:SP1]7
MOTIF[MA0080.2:PU1]4
MOTIF[MA0083.1:Srf]2
MOTIF[MA0093.1:USF1]10
MOTIF[MA0095.1:Yy1]5
MOTIF[MA0099.1:Cfos]1
MOTIF[MA0099.2:AP1]6
MOTIF[MA0114.1:HNF4A]10
MOTIF[MA0138.2:Nrsf]8
MOTIF[MA0139.1:CTCF]65
MOTIF[MA0140.1:Tal1]1
MOTIF[MA0147.1:Cmyc]11
MOTIF[MA0148.1:FOXA1]3
MOTIF[MA0154.1:EBF]4
MOTIF[MA0159.1:RXR]1
MOTIF[MA0162.1:Egr1]7
MOTIF[MA0239.1:Pax5]1
NON_SYNONYMOUS_CODING1935
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION55
NON_SYNONYMOUS_START1
PROTEIN_STRUCTURAL_INTERACTION_LOCUS62
SPLICE_SITE_REGION10
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION2
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_INSERTION1
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING43
START_GAINED37
START_LOST4
STOP_GAINED87
STOP_GAINED+CODON_CHANGE_PLUS_CODON_DELETION1
STOP_GAINED+CODON_CHANGE_PLUS_CODON_INSERTION1
STOP_GAINED+CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION3
STOP_LOST3
STOP_LOST+CODON_DELETION1
SYNONYMOUS_CODING1496
SYNONYMOUS_START3
SYNONYMOUS_STOP2
None0

Type Total Variants
2191
MISSENSE1998
NONSENSE90
SILENT745
None0

Type Total Variants
HIGH473
LOW1667
MODERATE2056
MODIFIER828
None0

Type Total Variants
MG_INDEL_Filter501
MG_SNP_Filter5064
PASS111997

Quality Value
Min10.15
Average1294.15100993532
Max74437.77

Read Depth Value
Min1
Average69.89164866198261
Max2323

Type Total Variants
None0

Chromossome Total Variants
111448
105216
116842
126229
132269
143865
154018
165270
176012
181870
198150
28151
203199
211639
223240
36422
44591
54804
66920
76218
84067
94846
X2119
Y157