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How do I use POSTGAP output?

Daniel Zerbino edited this page Feb 21, 2019 · 5 revisions

The POSTGAP output is a tab-delimited file with many columns:

  1. ld_snp_rsID rsID of putative causal SNP (LD SNP) being tested
  2. chrom chromosome name of LD SNP
  3. pos position of LD SNP on chromosome
  4. GRCh38_chrom chromosome name of LD SNP on GRCh38
  5. GRCh38_pos position of LD SNP on chromosome in GRCh38
  6. afr 1000 Genomes MAF for AFR
  7. amr 1000 Genomes MAF for AMR
  8. eas 1000 Genomes MAF for EAS
  9. eur 1000 Genomes MAF for EUR
  10. sas 1000 Genomes MAF for SAS
  11. gnomad Overall gnomaD MAF
  12. gnomad_sas gnomaD MAF for SAS
  13. gnomad_oth gnomaD MAF for OTH
  14. gnomad_asj gnomaD MAF for ASJ
  15. gnomad_nfe gnomaD MAF for NFE
  16. gnomad_afr gnomaD MAF for AFR
  17. gnomad_amr gnomaD MAF for AMR
  18. gnomad_fin gnomaD MAF for FIN
  19. gnomad_eas gnomaD MAF for EAS
  20. gene_symbol HGNC symbol of gene being tested
  21. gene_id Ensembl ID of gene being tested
  22. gene_chrom Chromosome name of gene being tested
  23. gene_tss Position on the chromosome of TSS of gene being tested
  24. GRCh38_gene_chrom Chromosome name of gene being tested in GRCh38
  25. GRCh38_gene_pos Position on the chromosome of TSS of gene being tested on GRCh38
  26. disease_name Normalised name of disease or trait being tested
  27. disease_efo_id Ontology ID of disease or trait being tested
  28. score Stopgap V2G score tying LD SNP to gene
  29. rank Rank of gene's V2G score among other genes tied to LD SNP
  30. r2 Pearson correlation of LD SNP to the GWAS SNP with lowest p-value
  31. cluster_id Internal ID to LD SNP cluster
  32. gwas_source Source database of GWAS SNPs
  33. gwas_snp SNPs associated to disease by GWAS
  34. gwas_pvalue P-values of reported associations
  35. gwas_pvalue_description Description of study associated to p-value
  36. gwas_odds_ratio Odds ratio
  37. gwas_odds_ratio_ci_start Lower limit of OR confidence interval
  38. gwas_odds_ratio_ci_end Upper limit of OR confidence interval
  39. gwas_beta GWAS Beta coefficient
  40. gwas_size Sample sizes of reported associations
  41. gwas_pmid Source publication PubmedID of reported associations
  42. gwas_study Study identifier
  43. gwas_reported_trait Disease or trait of reported association
  44. ld_snp_is_gwas_snp 1 if LD SNP is one of the GWAS SNPs, 0 otherwise
  45. vep_terms VEP consequence terms associated to LD_SNP
  46. vep_sum Sum of consequence impacts of LD SNP across all transcripts of gene:
    • 'HIGH': 4,
    • 'MEDIUM': 3,
    • 'LOW': 2,
    • 'MODIFIER': 1,
    • 'MODERATE': 1
  47. vep_mean Mean of consequence impacts of LD SNP across all transcripts of gene:
    • 'HIGH': 4,
    • 'MEDIUM': 3,
    • 'LOW': 2,
    • 'MODIFIER': 1,
    • 'MODERATE': 1
  48. GTEx_Thyroid 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  49. GTEx_Testis 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  50. GTEx_Artery_Tibial 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  51. GTEx_Nerve_Tibial 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  52. GTEx_Brain_Frontal_Cortex_BA9 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  53. GTEx_Artery_Aorta 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  54. GTEx_Vagina 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  55. GTEx_Brain_Hypothalamus 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  56. GTEx_Whole_Blood 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  57. GTEx_Breast_Mammary_Tissue 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  58. GTEx_Pituitary 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  59. GTEx_Small_Intestine_Terminal_Ileum 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  60. GTEx_Adrenal_Gland 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  61. GTEx_Heart_Atrial_Appendage 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  62. GTEx_Stomach 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  63. GTEx_Brain_Caudate_basal_ganglia 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  64. GTEx_Colon_Transverse 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  65. GTEx_Brain_Cerebellum 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  66. GTEx_Esophagus_Muscularis 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  67. GTEx_Liver 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  68. GTEx_Muscle_Skeletal 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  69. GTEx_Prostate 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  70. GTEx_Pancreas 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  71. GTEx_Adipose_Subcutaneous 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  72. GTEx_Spleen 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  73. GTEx_Colon_Sigmoid 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  74. GTEx_Brain_Anterior_cingulate_cortex_BA24 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  75. GTEx_Esophagus_Gastroesophageal_Junction 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  76. GTEx_Brain_Hippocampus 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  77. GTEx_Brain_Cortex 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  78. GTEx_Heart_Left_Ventricle 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  79. GTEx_Cells_Transformed_fibroblasts 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  80. GTEx_Uterus 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  81. GTEx_Ovary 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  82. GTEx_Cells_EBV-transformed_lymphocytes 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  83. GTEx_Artery_Coronary 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  84. GTEx_Adipose_Visceral_Omentum 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  85. GTEx_Brain_Nucleus_accumbens_basal_ganglia 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  86. GTEx_Brain_Cerebellar_Hemisphere 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  87. GTEx_Esophagus_Mucosa 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  88. GTEx_Skin_Not_Sun_Exposed_Suprapubic 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  89. GTEx_Brain_Putamen_basal_ganglia 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  90. GTEx_Lung 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  91. GTEx_Skin_Sun_Exposed_Lower_leg 1 - pvalue of association between the LD SNP and the Gene in GTEx for that tissue
  92. GTEx Maximum of all the above GTEx scores
  93. VEP Max of consequence impacts of LD SNP across all transcripts of gene:
    • 'HIGH': 4,
    • 'MEDIUM': 3,
    • 'LOW': 2,
    • 'MODIFIER': 1,
    • 'MODERATE': 1
  94. Fantom5 Maximum score of FANTOM5 link between LD SNP and gene, normalised for FDR
  95. DHS Maximum score of ENCODE DHS link between LD SNP and gene, normalised for FDR
  96. PCHiC Maximum score of CHiCAGO links between LD SNP and gene across tissues, normalised for FDR
  97. Nearest 1 if gene has the nearest protein-coding TSS to LD SNP, 0 otherwise
  98. Regulome 1 if LD SNP is of Category 1 or 2, 0.5 if LD SNP in Category 3
  99. GERP GERP conservation score across mammalian species