Name: ctr0100502_mex079_amisaday_mora_20190330015800
Variants: 57036
Novel Variants: 8997 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 57036 25972 0/1 31019 1/1 45 1/2
Total Gene-associated SNVs 57036 25972 0/1 31019 1/1 45 1/2

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION98
CODON_CHANGE_PLUS_CODON_INSERTION54
CODON_DELETION34
CODON_INSERTION48
FRAME_SHIFT115
FRAME_SHIFT+SPLICE_SITE_REGION40
FRAME_SHIFT+START_LOST3
FRAME_SHIFT+STOP_GAINED1
FRAME_SHIFT+STOP_LOST4
GENE_FUSION1
MOTIF[MA0003.1:Ap2alpha]10
MOTIF[MA0014.1:Pax5]3
MOTIF[MA0024.1:E2F1]8
MOTIF[MA0047.2:FOXA2]6
MOTIF[MA0058.1:Max]11
MOTIF[MA0059.1:Cmyc]1
MOTIF[MA0062.1:Gabp]3
MOTIF[MA0062.2:Gabp]19
MOTIF[MA0079.2:SP1]9
MOTIF[MA0080.1:PU1]4
MOTIF[MA0093.1:USF1]3
MOTIF[MA0095.1:Yy1]10
MOTIF[MA0099.1:Cfos]1
MOTIF[MA0114.1:HNF4A]8
MOTIF[MA0138.2:Nrsf]3
MOTIF[MA0139.1:CTCF]37
MOTIF[MA0147.1:Cmyc]5
MOTIF[MA0154.1:EBF]3
MOTIF[MA0159.1:RXR]1
MOTIF[MA0162.1:Egr1]26
NON_SYNONYMOUS_CODING11334
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION226
NON_SYNONYMOUS_START1
PROTEIN_PROTEIN_INTERACTION_LOCUS4
PROTEIN_STRUCTURAL_INTERACTION_LOCUS256
SPLICE_SITE_REGION50
SPLICE_SITE_REGION+CODON_DELETION1
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING236
START_GAINED465
START_LOST11
STOP_GAINED97
STOP_LOST21
STOP_LOST+SPLICE_SITE_REGION4
SYNONYMOUS_CODING11754
SYNONYMOUS_STOP8
None0

Type Total Variants
1346
MISSENSE11597
NONSENSE97
SILENT11998
None0

Type Total Variants
HIGH557
LOW12592
MODERATE11796
MODIFIER93
None0

Type Total Variants
HARD_TO_VALIDATE775
HARD_TO_VALIDATE;LowQD188
HARD_TO_VALIDATE;LowQD;LowQual57
HARD_TO_VALIDATE;LowQD;LowQual;SnpCluster21
HARD_TO_VALIDATE;LowQD;LowQual;SnpCluster;VeryLowQual10
HARD_TO_VALIDATE;LowQD;LowQual;VeryLowQual109
HARD_TO_VALIDATE;LowQD;SnpCluster38
HARD_TO_VALIDATE;LowQual20
HARD_TO_VALIDATE;LowQual;SnpCluster;VeryLowQual3
HARD_TO_VALIDATE;LowQual;VeryLowQual16
HARD_TO_VALIDATE;SnpCluster59
LowCoverage2021
LowCoverage;LowQual883
LowCoverage;LowQual;SnpCluster8
LowCoverage;LowQual;SnpCluster;VeryLowQual5327
LowCoverage;LowQual;VeryLowQual9485
LowCoverage;SnpCluster17
LowQD395
LowQD;LowQual101
LowQD;LowQual;SnpCluster33
LowQD;LowQual;SnpCluster;VeryLowQual53
LowQD;LowQual;VeryLowQual353
LowQD;SnpCluster144
LowQual488
LowQual;SnpCluster27
LowQual;SnpCluster;VeryLowQual59
LowQual;VeryLowQual315
PASS35425
SnpCluster606

Quality Value
Min10.2
Average726.550878041738
Max22159.73

Read Depth Value
Min1
Average48.39020969212427
Max1000

Type Total Variants
None0

Chromossome Total Variants
15903
102442
113730
123015
131090
141703
151819
162369
173355
18953
194188
23598
201544
21852
221412
33364
42245
52560
62395
72909
82010
92339
X1227
Y14