@@ -81,39 +81,21 @@ http://useast.ensembl.org/info/docs/tools/vep/vep_formats.html#output
81
81
97. HGVS_OFFSET - Indicates by how many bases the HGVS notations for this variant have been shifted
82
82
98. PHENO - Indicates if existing variant is associated with a phenotype, disease or trait
83
83
99. MINIMISED - Alleles in this variant have been converted to minimal representation before consequence calculation
84
- 100. ExAC_AF - Global Allele Frequency from ExAC
85
- 101. ExAC_AF_AFR - African/African American Allele Frequency from ExAC
86
- 102. ExAC_AF_AMR - American Allele Frequency from ExAC
87
- 103. ExAC_AF_EAS - East Asian Allele Frequency from ExAC
88
- 104. ExAC_AF_FIN - Finnish Allele Frequency from ExAC
89
- 105. ExAC_AF_NFE - Non-Finnish European Allele Frequency from ExAC
90
- 106. ExAC_AF_OTH - Other Allele Frequency from ExAC
91
- 107. ExAC_AF_SAS - South Asian Allele Frequency from ExAC
92
- 108. GENE_PHENO - Indicates if gene that the variant maps to is associated with a phenotype, disease or trait
93
- 109. FILTER - Copied from input MAF/VCF, with ExAC-based common_variant tag added, as explained below
94
- 110. flanking_bps - The reference allele per VCF specs, and its 2 flanking base pairs
95
- 111. variant_id - The ID from an input VCF, or the variant_id from an input MAF
96
- 112. variant_qual - The QUAL from an input VCF, or the variant_qual from an input MAF
97
- 113. ExAC_AF_Adj - Global Adjusted Allele frequency from ExAC
98
- 114. ExAC_AC_AN_Adj - Global Adjusted Allele Count and Number from ExAC
99
- 115. ExAC_AC_AN - Global Allele Count and Number from ExAC
100
- 116. ExAC_AC_AN_AFR - African/African American Allele Count and Number from ExAC
101
- 117. ExAC_AC_AN_AMR - American Allele Count and Number from ExAC
102
- 118. ExAC_AC_AN_EAS - East Asian Allele Count and Number from ExAC
103
- 119. ExAC_AC_AN_FIN - Finnish Allele Count and Number from ExAC
104
- 120. ExAC_AC_AN_NFE - Non-Finnish European Allele Count and Number from ExAC
105
- 121. ExAC_AC_AN_OTH - Other Allele Count and Number from ExAC
106
- 122. ExAC_AC_AN_SAS - South Asian Allele Count and Number from ExAC
107
- 123. ExAC_FILTER - FILTER tags retrieved from ExAC VCF; PASS means ExAC thinks it's germline
108
- 124. gnomAD_AF - Frequency of existing variant in gnomAD exomes combined population
109
- 125. gnomAD_AFR_AF - Frequency of existing variant in gnomAD exomes African/American population
110
- 126. gnomAD_AMR_AF - Frequency of existing variant in gnomAD exomes American population
111
- 127. gnomAD_ASJ_AF - Frequency of existing variant in gnomAD exomes Ashkenazi Jewish population
112
- 128. gnomAD_EAS_AF - Frequency of existing variant in gnomAD exomes East Asian population
113
- 129. gnomAD_FIN_AF - Frequency of existing variant in gnomAD exomes Finnish population
114
- 130. gnomAD_NFE_AF - Frequency of existing variant in gnomAD exomes Non-Finnish European population
115
- 131. gnomAD_OTH_AF - Frequency of existing variant in gnomAD exomes combined other combined populations
116
- 132. gnomAD_SAS_AF - Frequency of existing variant in gnomAD exomes South Asian population
84
+ 100. GENE_PHENO - Indicates if gene that the variant maps to is associated with a phenotype, disease or trait
85
+ 101. FILTER - Copied from input MAF/VCF, with gnomAD-based common_variant tag added, as explained below
86
+ 102. flanking_bps - The reference allele per VCF specs, and its 2 flanking base pairs
87
+ 103. variant_id - The ID from an input VCF, or the variant_id from an input MAF
88
+ 104. variant_qual - The QUAL from an input VCF, or the variant_qual from an input MAF
89
+ 105. gnomAD_AF - Frequency of existing variant in gnomAD exomes combined population
90
+ 106. gnomAD_AFR_AF - Frequency of existing variant in gnomAD exomes African/American population
91
+ 107. gnomAD_AMR_AF - Frequency of existing variant in gnomAD exomes American population
92
+ 108. gnomAD_ASJ_AF - Frequency of existing variant in gnomAD exomes Ashkenazi Jewish population
93
+ 109. gnomAD_EAS_AF - Frequency of existing variant in gnomAD exomes East Asian population
94
+ 110. gnomAD_FIN_AF - Frequency of existing variant in gnomAD exomes Finnish population
95
+ 111. gnomAD_NFE_AF - Frequency of existing variant in gnomAD exomes Non-Finnish European population
96
+ 112. gnomAD_OTH_AF - Frequency of existing variant in gnomAD exomes combined other combined populations
97
+ 113. gnomAD_SAS_AF - Frequency of existing variant in gnomAD exomes South Asian population
98
+ 114. vcf_pos - Value of POS from input VCF; useful if altered by liftOver or MAF conversion
117
99
118
100
To distinguish driver mutations from passenger mutations, the most relevant columns are:
119
101
@@ -132,12 +114,7 @@ These are some other columns to help shortlist variants worth looking into:
132
114
72. SIFT - the SIFT prediction and/or score, with both given as prediction (score).
133
115
73. PolyPhen - the PolyPhen prediction and/or score.
134
116
109. FILTER - False-positive filtering status, copied from the input MAF/VCF. An additional filter
135
- named common_variant is also appended, if allele count across at least one ExAC subpopulation
136
- is >10 (this default cutoff can be changed when running vcf2maf). So if you're handling
117
+ named common_variant is also appended, if allele frequency across at least one gnomAD subpopulation
118
+ is >0.04% (this cutoff can be changed when running vcf2maf or maf2maf ). So if you're handling
137
119
somatic variants, the common_variant tag means this is likely a false-positive. It is less
138
- likely to be a legit somatic variant at a site that ExAC classifies as germline or artifact.
139
- 123. ExAC_FILTER - FILTER tags copied from the ExAC VCF. Differentiates between what ExAC classifies
140
- as germline (tagged as "PASS") or artifact (one or more tags, but not "PASS").
141
- 113. ExAC_AF_Adj - Global allele frequency across the ExAC population, adjusted for samples where
142
- this position could be genotyped at high quality. If you're handling germline variants, then
143
- this tells you how common or rare the variant is.
120
+ likely to be a legit somatic variant at a site that gnomAD classifies as germline.
0 commit comments