Name: proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father
Variants: 62983
Novel Variants: 1419 (Not in latest DbSNP Build)

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION147
CODON_CHANGE_PLUS_CODON_INSERTION84
CODON_DELETION72
CODON_INSERTION66
FRAME_SHIFT209
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]8
MOTIF[MA0024.1:E2F1]2
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0036.1:Gata2]1
MOTIF[MA0047.2:FOXA2]1
MOTIF[MA0058.1:Max]9
MOTIF[MA0059.1:Cmyc]4
MOTIF[MA0062.1:Gabp]3
MOTIF[MA0062.2:Gabp]19
MOTIF[MA0065.2:PPARG]1
MOTIF[MA0079.1:SP1]5
MOTIF[MA0079.2:SP1]11
MOTIF[MA0080.1:PU1]2
MOTIF[MA0093.1:USF1]1
MOTIF[MA0095.1:Yy1]9
MOTIF[MA0099.1:Cfos]1
MOTIF[MA0099.2:AP1]1
MOTIF[MA0105.1:NFKB]1
MOTIF[MA0114.1:HNF4A]3
MOTIF[MA0138.1:Nrsf]1
MOTIF[MA0138.2:Nrsf]5
MOTIF[MA0139.1:CTCF]34
MOTIF[MA0147.1:Cmyc]2
MOTIF[MA0162.1:Egr1]19
NON_SYNONYMOUS_CODING10505
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION191
PROTEIN_PROTEIN_INTERACTION_LOCUS2
PROTEIN_STRUCTURAL_INTERACTION_LOCUS161
SPLICE_SITE_REGION49
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION2
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_INSERTION1
SPLICE_SITE_REGION+CODON_DELETION1
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING241
START_GAINED295
START_LOST7
START_LOST+CODON_DELETION1
STOP_GAINED102
STOP_GAINED+SPLICE_SITE_REGION2
STOP_LOST22
STOP_LOST+SPLICE_SITE_REGION2
SYNONYMOUS_CODING11303
SYNONYMOUS_STOP9
TRANSCRIPT2
None0

Type Total Variants
1292
MISSENSE10727
NONSENSE104
SILENT11553
None0

Type Total Variants
HIGH563
LOW11967
MODERATE11070
MODIFIER76
None0

Type Total Variants
HARD_TO_VALIDATE2205
HARD_TO_VALIDATE;LowQual650
HARD_TO_VALIDATE;LowQual;SnpCluster64
HARD_TO_VALIDATE;SnpCluster266
LowQual5955
LowQual;SnpCluster141
PASS52929
SnpCluster773

Quality Value
Min30.01
Average2092.48731197284
Max60045.9

Read Depth Value
Min0
Average46.564422145658355
Max2618

Type Total Variants
None0
2|22
25
51

Chromossome Total Variants
16516
102753
114079
123332
131254
141949
152189
162774
173862
181041
194717
24200
201623
21944
221595
33409
42530
52601
62636
73186
82277
92620
X868
Y28