Name: myexome-1 annotated mendelmd
Variants: 142953
Novel Variants: 1030 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 142953 86558 0/1 56173 1/1 222 1/2
Total Gene-associated SNVs 142953 86558 0/1 56173 1/1 222 1/2

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION201
CODON_CHANGE_PLUS_CODON_INSERTION129
CODON_DELETION76
CODON_INSERTION103
FRAME_SHIFT443
FRAME_SHIFT+SPLICE_SITE_REGION71
FRAME_SHIFT+START_LOST7
FRAME_SHIFT+STOP_GAINED7
FRAME_SHIFT+STOP_LOST6
GENE_FUSION1
GENE_FUSION_REVERESE3
MOTIF_DELETED4
MOTIF[MA0003.1:Ap2alpha]23
MOTIF[MA0016.1:RXRA]1
MOTIF[MA0024.1:E2F1]1
MOTIF[MA0035.2:Gata1]4
MOTIF[MA0036.1:Gata2]2
MOTIF[MA0058.1:Max]12
MOTIF[MA0059.1:Cmyc]4
MOTIF[MA0062.1:Gabp]7
MOTIF[MA0062.2:Gabp]28
MOTIF[MA0065.1:PPARG]1
MOTIF[MA0065.2:PPARG]2
MOTIF[MA0079.1:SP1]2
MOTIF[MA0079.2:SP1]21
MOTIF[MA0080.1:PU1]2
MOTIF[MA0080.2:PU1]3
MOTIF[MA0093.1:USF1]4
MOTIF[MA0095.1:Yy1]16
MOTIF[MA0099.2:AP1]2
MOTIF[MA0114.1:HNF4A]6
MOTIF[MA0138.2:Nrsf]5
MOTIF[MA0139.1:CTCF]79
MOTIF[MA0140.1:Tal1]2
MOTIF[MA0147.1:Cmyc]8
MOTIF[MA0154.1:EBF]1
MOTIF[MA0159.1:RXR]3
MOTIF[MA0162.1:Egr1]29
NON_SYNONYMOUS_CODING17341
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION376
PROTEIN_PROTEIN_INTERACTION_LOCUS7
PROTEIN_STRUCTURAL_INTERACTION_LOCUS399
SPLICE_SITE_REGION40
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+CODON_INSERTION2
SPLICE_SITE_REGION+SYNONYMOUS_CODING370
START_GAINED341
START_LOST18
START_LOST+CODON_CHANGE_PLUS_CODON_DELETION2
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION2
START_LOST+CODON_DELETION2
STOP_GAINED162
STOP_GAINED+CODON_CHANGE_PLUS_CODON_DELETION2
STOP_GAINED+CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST35
STOP_LOST+SPLICE_SITE_REGION4
SYNONYMOUS_CODING18502
SYNONYMOUS_STOP7
TRANSCRIPT2
None0

Type Total Variants
2120
MISSENSE17774
NONSENSE163
SILENT18879
None0

Type Total Variants
HIGH1173
LOW19395
MODERATE18229
MODIFIER139
None0

Type Total Variants
MG_INDEL_Filter147
MG_SNP_Filter2467
PASS140339

Quality Value
Min30.04
Average1051.08039985172
Max25283.77

Read Depth Value
Min0
Average53.66393150196218
Max802

Type Total Variants
None0
2|24
25

Chromossome Total Variants
18427
107686
1111618
129792
133354
146104
155794
167800
179262
182710
1911578
26087
204578
212598
224344
34708
43442
53685
64030
79396
86302
97000
X2646
Y12