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Filename
Sig_18_tissue_vs_Sig_18_Blood.tiddit_sv_merge_custom.ann_snpEff.csv
Full Path
s3://natera-rnd-pltf-dev-nextflow-data-01/users/mipeters/semiproductionize/sarek/698115e9/test_regression_dev_b0193075/reports/raw_qc/snpeff/tiddit/Sig_18_tissue_vs_Sig_18_Blood/Sig_18_tissue_vs_Sig_18_Blood.tiddit_sv_merge_custom.ann_snpEff.csv
Size
2.9 KB
Published
Feb 02, 2026 1:45 PM
# Summary table
Name , Value
Genome , GRCh38.105
Date , 2026-02-02 21:45
SnpEff_version , SnpEff 5.1d (build 2022-04-19 15:49), by Pablo Cingolani
Command_line_arguments , SnpEff GRCh38.105 -csvStats Sig_18_tissue_vs_Sig_18_Blood.tiddit_sv_merge_custom.ann_snpEff.csv Sig_18_tissue_vs_Sig_18_Blood.tiddit_sv_merge_custom.ann.vcf.gz
Warnings , 0
Number_of_lines_in_input_file, 9
Number_of_variants_before_filter, 9
Number_of_not_variants , 0
Number_of_variants_processed , 9
Number_of_known_variants (i.e. non-empty ID) , 8, 88.888889%
Number_of_effects , 35
Genome_total_length ,63147197748
Genome_effective_length ,46709983
Change_rate , 5189998
# Change rate by chromosome
Chromosome , Length , Changes , Change_rate
21 , 46709983 , 9 , 5189998
# Variantss by type
Type , Count , Percent
BND , 1 , 11.111111%
DEL , 1 , 11.111111%
DUP , 7 , 77.777778%
# Effects by impact
Type , Count , Percent
HIGH , 16 , 45.714286%
MODIFIER , 19 , 54.285714%
# Effects by functional class
Type , Count , Percent
Missense_Silent_ratio, 0
# Count by effects
Type , Count , Percent
bidirectional_gene_fusion , 8 , 20.512821%
downstream_gene_variant , 3 , 7.692308%
frameshift_variant , 4 , 10.25641%
gene_fusion , 8 , 20.512821%
intragenic_variant , 6 , 15.384615%
intron_variant , 5 , 12.820513%
non_coding_transcript_exon_variant , 1 , 2.564103%
upstream_gene_variant , 4 , 10.25641%
# Count by genomic region
Type , Count , Percent
DOWNSTREAM , 3 , 8.571429%
EXON , 1 , 2.857143%
GENE , 16 , 45.714286%
INTRON , 5 , 14.285714%
TRANSCRIPT , 6 , 17.142857%
UPSTREAM , 4 , 11.428571%
# Quality
Values , 20,35,40,50,80
Count , 1,1,1,2,4
# InDel lengths
Values , 1
Count , 1
# Base changes
base , A , C , G , T
A , 0 , 0 , 0 , 0
C , 0 , 0 , 0 , 0
G , 0 , 0 , 0 , 0
T , 0 , 0 , 0 , 0
# Ts/Tv summary
Transitions , 0
Transversions , 0
Ts_Tv_ratio , 0
# Ts/Tv : All variants
No results available (empty input?)
# Ts/Tv : Known variants
No results available (empty input?)
# Allele frequency
# Allele frequency : All variants
Values , 50,100
Count , 2,7
# Allele Count
Values , 1,2,4
Count , 2,6,1
# Hom/Het table
Sample_names , Sig_18_Sig_18_Blood, Sig_18_Sig_18_tissue
Reference , 0, 0
Het , 1, 1
Hom , 5, 3
Missing , 3, 5
# Codon change table
codons
# Amino acid change table
aa
# Chromosome change table
21, Position,0,1000000,2000000,3000000,4000000,5000000,6000000,7000000,8000000,9000000,10000000,11000000,12000000,13000000,14000000,15000000,16000000,17000000,18000000,19000000,20000000,21000000,22000000,23000000,24000000,25000000,26000000,27000000,28000000,29000000,30000000,31000000,32000000,33000000,34000000,35000000,36000000,37000000,38000000,39000000,40000000,41000000,42000000,43000000,44000000,45000000,46000000
21,Count,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,1,0,2,2,3,0
129 rows