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Merge branch 'master' into include_cnvs
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Jeremy McRae committed Jul 8, 2015
2 parents 8e3ee74 + c6b8c6e commit 097f0dd
Showing 1 changed file with 16 additions and 15 deletions.
31 changes: 16 additions & 15 deletions src/main/python/clinicalfilter/variant/info.py
Original file line number Diff line number Diff line change
Expand Up @@ -10,20 +10,21 @@ class VariantInfo(object):
# http://www.ensembl.org/info/genome/variation/predicted_data.html
severity = {"transcript_ablation": 0, "splice_donor_variant": 1, \
"splice_acceptor_variant": 2, "stop_gained": 3, "frameshift_variant": 4, \
"stop_lost": 5, "initiator_codon_variant": 6, "inframe_insertion": 7, \
"inframe_deletion": 8, "missense_variant": 9, \
"transcript_amplification": 10, "splice_region_variant": 11, \
"incomplete_terminal_codon_variant": 12, "synonymous_variant": 13, \
"stop_retained_variant": 14, "coding_sequence_variant": 15, \
"mature_miRNA_variant": 16, "5_prime_UTR_variant": 17, \
"3_prime_UTR_variant": 18, "intron_variant": 19, \
"NMD_transcript_variant": 20, "non_coding_exon_variant": 21, \
"nc_transcript_variant": 22, "upstream_gene_variant": 23, \
"downstream_gene_variant": 24, "TFBS_ablation": 25, \
"TFBS_amplification": 26, "TF_binding_site_variant": 27, \
"regulatory_region_variant": 28, "regulatory_region_ablation": 29, \
"regulatory_region_amplification": 30, "feature_elongation": 31, \
"feature_truncation": 32, "intergenic_variant": 33}
"stop_lost": 5, "start_lost": 6, "initiator_codon_variant": 7, \
"inframe_insertion": 8, "inframe_deletion": 9, "missense_variant": 10, \
"protein_altering_variant": 11, "transcript_amplification": 12, \
"splice_region_variant": 13, "incomplete_terminal_codon_variant": 14, \
"synonymous_variant": 15, "stop_retained_variant": 16, \
"coding_sequence_variant": 17, "mature_miRNA_variant": 18, \
"5_prime_UTR_variant": 19, "3_prime_UTR_variant": 20, \
"intron_variant": 21, "NMD_transcript_variant": 22, \
"non_coding_exon_variant": 23, "non_coding_transcript_exon_variant": 24, \
"nc_transcript_variant": 25, "upstream_gene_variant": 26, \
"downstream_gene_variant": 27, "TFBS_ablation": 28, \
"TFBS_amplification": 29, "TF_binding_site_variant": 30,
"regulatory_region_variant": 31, "regulatory_region_ablation": 32,
"regulatory_region_amplification": 33, "feature_elongation": 34,
"feature_truncation": 35, "intergenic_variant": 36}

# define the set of loss-of-function consequences
lof_consequences = set(["transcript_ablation", "splice_donor_variant", \
Expand All @@ -33,7 +34,7 @@ class VariantInfo(object):
# define the set of missense (or non loss-of-function) consequences
missense_consequences = set(["stop_lost", "initiator_codon_variant", \
"inframe_insertion", "inframe_deletion", "missense_variant", \
"transcript_amplification"])
"transcript_amplification", "start_lost", "protein_altering_variant"])

# define the populations who have minor allele frequencies in the INFO
populations = set(["AFR_AF", "AMR_AF", "ASN_AF", "DDD_AF", "EAS_AF", \
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