Name: frasc37
Variants: 59820
Novel Variants: 1604 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 59820 39910 0/1 15 0/2 19690 1/1 148 1/2 1 1/3 54 2/2 1 2/3 1 3/3
Total Gene-associated SNVs 59820 39910 0/1 15 0/2 19690 1/1 148 1/2 1 1/3 54 2/2 1 2/3 1 3/3

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION70
CODON_CHANGE_PLUS_CODON_INSERTION47
CODON_DELETION46
CODON_INSERTION42
FRAME_SHIFT150
FRAME_SHIFT+SPLICE_SITE_REGION30
FRAME_SHIFT+START_LOST3
FRAME_SHIFT+STOP_LOST4
MOTIF_DELETED1
MOTIF[MA0003.1:Ap2alpha]8
MOTIF[MA0024.1:E2F1]1
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0058.1:Max]6
MOTIF[MA0059.1:Cmyc]2
MOTIF[MA0062.1:Gabp]3
MOTIF[MA0062.2:Gabp]8
MOTIF[MA0065.1:PPARG]1
MOTIF[MA0079.1:SP1]3
MOTIF[MA0079.2:SP1]10
MOTIF[MA0080.1:PU1]1
MOTIF[MA0093.1:USF1]1
MOTIF[MA0095.1:Yy1]2
MOTIF[MA0105.1:NFKB]1
MOTIF[MA0114.1:HNF4A]1
MOTIF[MA0138.2:Nrsf]2
MOTIF[MA0139.1:CTCF]32
MOTIF[MA0154.1:EBF]2
MOTIF[MA0162.1:Egr1]10
NON_SYNONYMOUS_CODING10499
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION233
NON_SYNONYMOUS_START1
PROTEIN_PROTEIN_INTERACTION_LOCUS6
PROTEIN_STRUCTURAL_INTERACTION_LOCUS294
SPLICE_SITE_REGION22
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_INSERTION1
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING258
START_GAINED169
START_LOST12
STOP_GAINED64
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST21
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING12190
SYNONYMOUS_STOP11
None0

Type Total Variants
1142
MISSENSE10610
NONSENSE65
SILENT12458
None0

Type Total Variants
HIGH588
LOW12693
MODERATE10940
MODIFIER54
None0

Type Total Variants
PASS59820

Quality Value
Min10.0
Average429.398527500836
Max2982.21

Read Depth Value
Min9
Average137.2615011701772
Max1715

Type Total Variants
None0

Chromossome Total Variants
16005
102386
113575
122964
131015
141861
151869
162740
173638
18999
194681
23973
201582
21851
221368
33319
42232
52607
63286
72905
82170
92520
X1274