Name: proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob
Variants: 63154
Novel Variants: 1332 (Not in latest DbSNP Build)

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION135
CODON_CHANGE_PLUS_CODON_INSERTION92
CODON_DELETION65
CODON_INSERTION66
FRAME_SHIFT196
FRAME_SHIFT+SPLICE_SITE_REGION42
FRAME_SHIFT+START_LOST5
FRAME_SHIFT+STOP_GAINED4
FRAME_SHIFT+STOP_LOST2
GENE_FUSION1
GENE_FUSION_REVERESE1
MOTIF[MA0003.1:Ap2alpha]6
MOTIF[MA0014.1:Pax5]2
MOTIF[MA0024.1:E2F1]4
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0036.1:Gata2]1
MOTIF[MA0058.1:Max]10
MOTIF[MA0059.1:Cmyc]2
MOTIF[MA0062.1:Gabp]2
MOTIF[MA0062.2:Gabp]20
MOTIF[MA0065.2:PPARG]1
MOTIF[MA0079.1:SP1]4
MOTIF[MA0079.2:SP1]9
MOTIF[MA0080.1:PU1]2
MOTIF[MA0080.2:PU1]1
MOTIF[MA0093.1:USF1]1
MOTIF[MA0095.1:Yy1]8
MOTIF[MA0114.1:HNF4A]4
MOTIF[MA0138.1:Nrsf]1
MOTIF[MA0138.2:Nrsf]4
MOTIF[MA0139.1:CTCF]29
MOTIF[MA0147.1:Cmyc]3
MOTIF[MA0148.1:FOXA1]1
MOTIF[MA0154.1:EBF]1
MOTIF[MA0159.1:RXR]1
MOTIF[MA0162.1:Egr1]23
NON_SYNONYMOUS_CODING10576
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION206
PROTEIN_PROTEIN_INTERACTION_LOCUS4
PROTEIN_STRUCTURAL_INTERACTION_LOCUS162
SPLICE_SITE_REGION44
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+CODON_DELETION1
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING232
START_GAINED289
START_LOST9
START_LOST+CODON_DELETION2
STOP_GAINED88
STOP_GAINED+CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST21
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING11429
SYNONYMOUS_STOP12
TRANSCRIPT1
None0

Type Total Variants
1256
MISSENSE10815
NONSENSE89
SILENT11673
None0

Type Total Variants
HIGH542
LOW12075
MODERATE11143
MODIFIER73
None0

Type Total Variants
HARD_TO_VALIDATE2234
HARD_TO_VALIDATE;LowQual583
HARD_TO_VALIDATE;LowQual;SnpCluster48
HARD_TO_VALIDATE;SnpCluster252
LowQual5216
LowQual;SnpCluster127
PASS53938
SnpCluster756

Quality Value
Min30.01
Average2210.82853833466
Max60045.9

Read Depth Value
Min1
Average49.763894606834086
Max2639

Type Total Variants
None0
2|22
26
51

Chromossome Total Variants
16470
102666
114192
123294
131232
141923
152183
162714
173770
181031
194702
24302
201730
21999
221606
33411
42460
52547
62660
73123
82434
92536
X1160
Y9