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Tools Description

Versions of tools in order of process

Tool

Version

1.8.2

0.1.5

1.15.1

1.6

Files and Resources used

There are multiple files from different resources used in this workflow.

Mappability BED File

Ensembl HG19

wgEncodeDacMapabilityConsensusExcludable.bed.gz

Complexity BED File

Ensembl HG19

rmsk.txt.gz

47k CHPD TSV File

47K CH Putative Drivers list

Hotspot TSV File

47K CH PD variants with a prevalence >=5

Panmyeloid TSV File

Panmyeloid variants from IMPACT Haeme dataset

SnpSift - annotatearrow-up-right

5.0

vcf2mafarrow-up-right

1.6.21

OncoKB - annotatorarrow-up-right

3.2.2

Post Processing Variant - MAF annotated by BEDarrow-up-right

0.2.3

Post Processing Variant - MAF annotated by TSVarrow-up-right

0.2.3

Post Processing Variant - MAF tagarrow-up-right

0.2.3

Post Processing Variant - MAF filterarrow-up-right

0.2.3

Steps

Database,Version

File

SnpSIFT annotate

Cosmic V96

1. overall prevalence is obtained from CosmicCodingMuts.normal.vcf.gz (Note: normal denotes normalized ) 2. lineage prevalence was obtained by processing CosmicCodingMuts.vcf.gz

vcf2maf

dmp_ACCESS-panelA-v1-isoform-overrides

OncoKB annotate

VEP 105

API token File

MAF annotated By BED/TSV

VarDictarrow-up-right
Post Processing Variant - Single Sample FIlterarrow-up-right
BCFtools - sort, normalize, bgzip, tabixarrow-up-right
BCFtools - concatarrow-up-right