Name: 62388010_s7 mvar 62388010_S7.SAMTOOLS
Variants: 84858
Novel Variants: 7326 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 84858 52579 0/1 71 0/2 6 0/3 32088 1/1 98 2/2 14 3/3 2 4/4
Total Gene-associated SNVs 84858 52579 0/1 71 0/2 6 0/3 32088 1/1 98 2/2 14 3/3 2 4/4

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION54
CODON_CHANGE_PLUS_CODON_INSERTION67
CODON_DELETION109
CODON_INSERTION112
FRAME_SHIFT163
FRAME_SHIFT+NON_SYNONYMOUS_CODING1
FRAME_SHIFT+SPLICE_SITE_REGION44
FRAME_SHIFT+START_LOST1
FRAME_SHIFT+STOP_GAINED2
FRAME_SHIFT+STOP_GAINED+SPLICE_SITE_REGION1
FRAME_SHIFT+STOP_LOST2
MOTIF[MA0003.1:Ap2alpha]20
MOTIF[MA0014.1:Pax5]2
MOTIF[MA0016.1:RXRA]3
MOTIF[MA0024.1:E2F1]1
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0047.1:FOXA2]1
MOTIF[MA0047.2:FOXA2]1
MOTIF[MA0058.1:Max]10
MOTIF[MA0059.1:Cmyc]2
MOTIF[MA0062.1:Gabp]3
MOTIF[MA0062.2:Gabp]10
MOTIF[MA0065.1:PPARG]1
MOTIF[MA0065.2:PPARG]2
MOTIF[MA0074.1:RXRA]1
MOTIF[MA0079.1:SP1]2
MOTIF[MA0079.2:SP1]10
MOTIF[MA0080.2:PU1]3
MOTIF[MA0093.1:USF1]3
MOTIF[MA0095.1:Yy1]7
MOTIF[MA0099.2:AP1]1
MOTIF[MA0114.1:HNF4A]5
MOTIF[MA0138.2:Nrsf]1
MOTIF[MA0139.1:CTCF]56
MOTIF[MA0147.1:Cmyc]3
MOTIF[MA0154.1:EBF]2
MOTIF[MA0162.1:Egr1]15
NON_SYNONYMOUS_CODING11319
NON_SYNONYMOUS_CODING+CODON_DELETION1
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION217
PROTEIN_PROTEIN_INTERACTION_LOCUS4
PROTEIN_STRUCTURAL_INTERACTION_LOCUS261
SPLICE_SITE_REGION26
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+CODON_DELETION3
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING252
START_GAINED206
START_LOST15
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION1
START_LOST+CODON_DELETION1
STOP_GAINED89
STOP_GAINED+CODON_CHANGE_PLUS_CODON_INSERTION1
STOP_GAINED+CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST25
STOP_LOST+CODON_DELETION1
STOP_LOST+SPLICE_SITE_REGION2
SYNONYMOUS_CODING11877
SYNONYMOUS_CODING+CODON_DELETION2
SYNONYMOUS_STOP10
TRANSCRIPT1
None0

Type Total Variants
1233
MISSENSE11578
NONSENSE90
SILENT12139
None0

Type Total Variants
HIGH616
LOW12451
MODERATE11886
MODIFIER87
None0

Type Total Variants
PASS84858

Quality Value
Min10.19
Average1394.0492032565
Max36402.1

Read Depth Value
Min1
Average65.3339343373636
Max1733

Type Total Variants
None0

Chromossome Total Variants
18140
103727
115157
124612
131496
143032
152863
164121
175043
181347
195870
25644
202130
211252
222151
34780
43060
53519
65279
74173
82885
93475
X1037
Y65