Name: myexome-1 annotated mendelmd
Variants: 86476
Novel Variants: 603 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 86476 52250 0/1 34089 1/1 137 1/2
Total Gene-associated SNVs 86476 52250 0/1 34089 1/1 137 1/2

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION121
CODON_CHANGE_PLUS_CODON_INSERTION80
CODON_DELETION44
CODON_INSERTION59
FRAME_SHIFT249
FRAME_SHIFT+SPLICE_SITE_REGION38
FRAME_SHIFT+START_LOST4
FRAME_SHIFT+STOP_GAINED4
FRAME_SHIFT+STOP_LOST3
GENE_FUSION1
GENE_FUSION_REVERESE2
MOTIF_DELETED2
MOTIF[MA0003.1:Ap2alpha]14
MOTIF[MA0016.1:RXRA]1
MOTIF[MA0024.1:E2F1]1
MOTIF[MA0035.2:Gata1]2
MOTIF[MA0036.1:Gata2]1
MOTIF[MA0058.1:Max]8
MOTIF[MA0059.1:Cmyc]2
MOTIF[MA0062.1:Gabp]4
MOTIF[MA0062.2:Gabp]18
MOTIF[MA0065.1:PPARG]1
MOTIF[MA0065.2:PPARG]1
MOTIF[MA0079.1:SP1]2
MOTIF[MA0079.2:SP1]13
MOTIF[MA0080.1:PU1]1
MOTIF[MA0080.2:PU1]3
MOTIF[MA0093.1:USF1]2
MOTIF[MA0095.1:Yy1]8
MOTIF[MA0099.2:AP1]1
MOTIF[MA0114.1:HNF4A]3
MOTIF[MA0138.2:Nrsf]4
MOTIF[MA0139.1:CTCF]44
MOTIF[MA0140.1:Tal1]1
MOTIF[MA0147.1:Cmyc]4
MOTIF[MA0154.1:EBF]1
MOTIF[MA0159.1:RXR]2
MOTIF[MA0162.1:Egr1]15
NON_SYNONYMOUS_CODING10373
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION225
PROTEIN_PROTEIN_INTERACTION_LOCUS4
PROTEIN_STRUCTURAL_INTERACTION_LOCUS242
SPLICE_SITE_REGION24
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING228
START_GAINED205
START_LOST10
START_LOST+CODON_CHANGE_PLUS_CODON_DELETION1
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION1
START_LOST+CODON_DELETION1
STOP_GAINED92
STOP_GAINED+CODON_CHANGE_PLUS_CODON_DELETION1
STOP_GAINED+CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST22
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING11120
SYNONYMOUS_STOP5
TRANSCRIPT1
None0

Type Total Variants
1247
MISSENSE10633
NONSENSE93
SILENT11353
None0

Type Total Variants
HIGH680
LOW11661
MODERATE10904
MODIFIER81
None0

Type Total Variants
MG_INDEL_Filter81
MG_SNP_Filter1434
PASS84961

Quality Value
Min30.04
Average1052.68941486653
Max25283.77

Read Depth Value
Min0
Average53.37641657801009
Max802

Type Total Variants
None0
2|22
23

Chromossome Total Variants
18427
103843
115809
124896
131677
143052
152897
163900
174631
181355
195789
26087
202289
211299
222172
34708
43442
53685
63840
74698
83151
93500
X1323
Y6