Name: schinzel_giedion
Variants: 37299
Novel Variants: 217 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 37299 34803 0/1 2496 1/1
Total Gene-associated SNVs 37299 34803 0/1 2496 1/1

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION71
CODON_CHANGE_PLUS_CODON_INSERTION43
CODON_DELETION22
CODON_INSERTION33
FRAME_SHIFT92
FRAME_SHIFT+SPLICE_SITE_REGION22
FRAME_SHIFT+START_LOST3
FRAME_SHIFT+STOP_GAINED2
GENE_FUSION1
MOTIF[MA0016.1:RXRA]1
MOTIF[MA0024.1:E2F1]1
MOTIF[MA0058.1:Max]3
MOTIF[MA0062.1:Gabp]2
MOTIF[MA0062.2:Gabp]4
MOTIF[MA0079.2:SP1]3
MOTIF[MA0080.1:PU1]1
MOTIF[MA0095.1:Yy1]2
MOTIF[MA0099.1:Cfos]1
MOTIF[MA0099.2:AP1]2
MOTIF[MA0139.1:CTCF]18
MOTIF[MA0162.1:Egr1]5
NON_SYNONYMOUS_CODING4926
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION117
PROTEIN_PROTEIN_INTERACTION_LOCUS2
PROTEIN_STRUCTURAL_INTERACTION_LOCUS147
SPLICE_SITE_REGION13
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+CODON_DELETION2
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING109
START_GAINED59
START_LOST3
STOP_GAINED47
STOP_LOST5
SYNONYMOUS_CODING5564
SYNONYMOUS_STOP4
None0

Type Total Variants
557
MISSENSE5051
NONSENSE47
SILENT5677
None0

Type Total Variants
HIGH324
LOW5770
MODERATE5216
MODIFIER22
None0

Type Total Variants
PASS37299

Quality Value
Min50.01
Average449.890479101317
Max17882.36

Read Depth Value
Min4
Average32.761468135874956
Max250

Type Total Variants
None0

Chromossome Total Variants
13706
101560
112108
121943
13667
141365
151258
161447
172063
18631
192809
22537
201024
21599
22976
32062
41451
51699
62381
71933
81326
91531
X180
Y43