Summary

Summary {data-width=650}

Manhattan plot

manhattan_plot

manhattan_plot

QQ plot

qq_plot

qq_plot

AF plot

af_plot

af_plot

P-Z plot

pz_plot

pz_plot

beta_std plot

beta_std_plot

beta_std_plot

Metadata

{
    "fileformat": "VCFv4.2",
    "FILTER": "<ID=PASS,Description=\"All filters passed\">",
    "INFO": "<ID=AF,Number=A,Type=Float,Description=\"Allele Frequency\">",
    "FORMAT": "<ID=ES,Number=A,Type=Float,Description=\"Effect size estimate relative to the alternative allele\">",
    "FORMAT.1": "<ID=SE,Number=A,Type=Float,Description=\"Standard error of effect size estimate\">",
    "FORMAT.2": "<ID=LP,Number=A,Type=Float,Description=\"-log10 p-value for effect estimate\">",
    "FORMAT.3": "<ID=AF,Number=A,Type=Float,Description=\"Alternate allele frequency in the association study\">",
    "FORMAT.4": "<ID=SS,Number=A,Type=Float,Description=\"Sample size used to estimate genetic effect\">",
    "FORMAT.5": "<ID=EZ,Number=A,Type=Float,Description=\"Z-score provided if it was used to derive the EFFECT and SE fields\">",
    "FORMAT.6": "<ID=SI,Number=A,Type=Float,Description=\"Accuracy score of summary data imputation\">",
    "FORMAT.7": "<ID=NC,Number=A,Type=Float,Description=\"Number of cases used to estimate genetic effect\">",
    "FORMAT.8": "<ID=ID,Number=1,Type=String,Description=\"Study variant identifier\">",
    "META": "<ID=TotalVariants,Number=1,Type=Integer,Description=\"Total number of variants in input\">",
    "META.1": "<ID=VariantsNotRead,Number=1,Type=Integer,Description=\"Number of variants that could not be read\">",
    "META.2": "<ID=HarmonisedVariants,Number=1,Type=Integer,Description=\"Total number of harmonised variants\">",
    "META.3": "<ID=VariantsNotHarmonised,Number=1,Type=Integer,Description=\"Total number of variants that could not be harmonised\">",
    "META.4": "<ID=SwitchedAlleles,Number=1,Type=Integer,Description=\"Total number of variants strand switched\">",
    "META.5": "<ID=TotalControls,Number=1,Type=Integer,Description=\"Total number of controls in the association study\">",
    "META.6": "<ID=TotalCases,Number=1,Type=Integer,Description=\"Total number of cases in the association study\">",
    "META.7": "<ID=StudyType,Number=1,Type=String,Description=\"Type of GWAS study [Continuous or CaseControl]\">",
    "SAMPLE": "<ID=ukb-d-20548_9,TotalVariants=12268227,VariantsNotRead=0,HarmonisedVariants=12268227,VariantsNotHarmonised=0,SwitchedAlleles=226,StudyType=Continuous>",
    "contig": "<ID=1,length=249250621,assembly=HG19/GRCh37>",
    "contig.1": "<ID=2,length=243199373,assembly=HG19/GRCh37>",
    "contig.2": "<ID=3,length=198022430,assembly=HG19/GRCh37>",
    "contig.3": "<ID=4,length=191154276,assembly=HG19/GRCh37>",
    "contig.4": "<ID=5,length=180915260,assembly=HG19/GRCh37>",
    "contig.5": "<ID=6,length=171115067,assembly=HG19/GRCh37>",
    "contig.6": "<ID=7,length=159138663,assembly=HG19/GRCh37>",
    "contig.7": "<ID=8,length=146364022,assembly=HG19/GRCh37>",
    "contig.8": "<ID=9,length=141213431,assembly=HG19/GRCh37>",
    "contig.9": "<ID=10,length=135534747,assembly=HG19/GRCh37>",
    "contig.10": "<ID=11,length=135006516,assembly=HG19/GRCh37>",
    "contig.11": "<ID=12,length=133851895,assembly=HG19/GRCh37>",
    "contig.12": "<ID=13,length=115169878,assembly=HG19/GRCh37>",
    "contig.13": "<ID=14,length=107349540,assembly=HG19/GRCh37>",
    "contig.14": "<ID=15,length=102531392,assembly=HG19/GRCh37>",
    "contig.15": "<ID=16,length=90354753,assembly=HG19/GRCh37>",
    "contig.16": "<ID=17,length=81195210,assembly=HG19/GRCh37>",
    "contig.17": "<ID=18,length=78077248,assembly=HG19/GRCh37>",
    "contig.18": "<ID=19,length=59128983,assembly=HG19/GRCh37>",
    "contig.19": "<ID=20,length=63025520,assembly=HG19/GRCh37>",
    "contig.20": "<ID=21,length=48129895,assembly=HG19/GRCh37>",
    "contig.21": "<ID=22,length=51304566,assembly=HG19/GRCh37>",
    "contig.22": "<ID=X,length=155270560,assembly=HG19/GRCh37>",
    "contig.23": "<ID=Y,length=59373566,assembly=HG19/GRCh37>",
    "contig.24": "<ID=MT,length=16569,assembly=HG19/GRCh37>",
    "contig.25": "<ID=GL000207.1,length=4262,assembly=HG19/GRCh37>",
    "contig.26": "<ID=GL000226.1,length=15008,assembly=HG19/GRCh37>",
    "contig.27": "<ID=GL000229.1,length=19913,assembly=HG19/GRCh37>",
    "contig.28": "<ID=GL000231.1,length=27386,assembly=HG19/GRCh37>",
    "contig.29": "<ID=GL000210.1,length=27682,assembly=HG19/GRCh37>",
    "contig.30": "<ID=GL000239.1,length=33824,assembly=HG19/GRCh37>",
    "contig.31": "<ID=GL000235.1,length=34474,assembly=HG19/GRCh37>",
    "contig.32": "<ID=GL000201.1,length=36148,assembly=HG19/GRCh37>",
    "contig.33": "<ID=GL000247.1,length=36422,assembly=HG19/GRCh37>",
    "contig.34": "<ID=GL000245.1,length=36651,assembly=HG19/GRCh37>",
    "contig.35": "<ID=GL000197.1,length=37175,assembly=HG19/GRCh37>",
    "contig.36": "<ID=GL000203.1,length=37498,assembly=HG19/GRCh37>",
    "contig.37": "<ID=GL000246.1,length=38154,assembly=HG19/GRCh37>",
    "contig.38": "<ID=GL000249.1,length=38502,assembly=HG19/GRCh37>",
    "contig.39": "<ID=GL000196.1,length=38914,assembly=HG19/GRCh37>",
    "contig.40": "<ID=GL000248.1,length=39786,assembly=HG19/GRCh37>",
    "contig.41": "<ID=GL000244.1,length=39929,assembly=HG19/GRCh37>",
    "contig.42": "<ID=GL000238.1,length=39939,assembly=HG19/GRCh37>",
    "contig.43": "<ID=GL000202.1,length=40103,assembly=HG19/GRCh37>",
    "contig.44": "<ID=GL000234.1,length=40531,assembly=HG19/GRCh37>",
    "contig.45": "<ID=GL000232.1,length=40652,assembly=HG19/GRCh37>",
    "contig.46": "<ID=GL000206.1,length=41001,assembly=HG19/GRCh37>",
    "contig.47": "<ID=GL000240.1,length=41933,assembly=HG19/GRCh37>",
    "contig.48": "<ID=GL000236.1,length=41934,assembly=HG19/GRCh37>",
    "contig.49": "<ID=GL000241.1,length=42152,assembly=HG19/GRCh37>",
    "contig.50": "<ID=GL000243.1,length=43341,assembly=HG19/GRCh37>",
    "contig.51": "<ID=GL000242.1,length=43523,assembly=HG19/GRCh37>",
    "contig.52": "<ID=GL000230.1,length=43691,assembly=HG19/GRCh37>",
    "contig.53": "<ID=GL000237.1,length=45867,assembly=HG19/GRCh37>",
    "contig.54": "<ID=GL000233.1,length=45941,assembly=HG19/GRCh37>",
    "contig.55": "<ID=GL000204.1,length=81310,assembly=HG19/GRCh37>",
    "contig.56": "<ID=GL000198.1,length=90085,assembly=HG19/GRCh37>",
    "contig.57": "<ID=GL000208.1,length=92689,assembly=HG19/GRCh37>",
    "contig.58": "<ID=GL000191.1,length=106433,assembly=HG19/GRCh37>",
    "contig.59": "<ID=GL000227.1,length=128374,assembly=HG19/GRCh37>",
    "contig.60": "<ID=GL000228.1,length=129120,assembly=HG19/GRCh37>",
    "contig.61": "<ID=GL000214.1,length=137718,assembly=HG19/GRCh37>",
    "contig.62": "<ID=GL000221.1,length=155397,assembly=HG19/GRCh37>",
    "contig.63": "<ID=GL000209.1,length=159169,assembly=HG19/GRCh37>",
    "contig.64": "<ID=GL000218.1,length=161147,assembly=HG19/GRCh37>",
    "contig.65": "<ID=GL000220.1,length=161802,assembly=HG19/GRCh37>",
    "contig.66": "<ID=GL000213.1,length=164239,assembly=HG19/GRCh37>",
    "contig.67": "<ID=GL000211.1,length=166566,assembly=HG19/GRCh37>",
    "contig.68": "<ID=GL000199.1,length=169874,assembly=HG19/GRCh37>",
    "contig.69": "<ID=GL000217.1,length=172149,assembly=HG19/GRCh37>",
    "contig.70": "<ID=GL000216.1,length=172294,assembly=HG19/GRCh37>",
    "contig.71": "<ID=GL000215.1,length=172545,assembly=HG19/GRCh37>",
    "contig.72": "<ID=GL000205.1,length=174588,assembly=HG19/GRCh37>",
    "contig.73": "<ID=GL000219.1,length=179198,assembly=HG19/GRCh37>",
    "contig.74": "<ID=GL000224.1,length=179693,assembly=HG19/GRCh37>",
    "contig.75": "<ID=GL000223.1,length=180455,assembly=HG19/GRCh37>",
    "contig.76": "<ID=GL000195.1,length=182896,assembly=HG19/GRCh37>",
    "contig.77": "<ID=GL000212.1,length=186858,assembly=HG19/GRCh37>",
    "contig.78": "<ID=GL000222.1,length=186861,assembly=HG19/GRCh37>",
    "contig.79": "<ID=GL000200.1,length=187035,assembly=HG19/GRCh37>",
    "contig.80": "<ID=GL000193.1,length=189789,assembly=HG19/GRCh37>",
    "contig.81": "<ID=GL000194.1,length=191469,assembly=HG19/GRCh37>",
    "contig.82": "<ID=GL000225.1,length=211173,assembly=HG19/GRCh37>",
    "contig.83": "<ID=GL000192.1,length=547496,assembly=HG19/GRCh37>",
    "gwas_harmonisation_command": "--json /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ukb-d-import/processed/ukb-d-20548_9/ukb-d-20548_9_data.json --ref /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/QC/genomes/b37/human_g1k_v37.fasta; 1.1.1",
    "file_date": "2019-11-25T15:12:50.211181",
    "bcftools_annotateVersion": "1.9-74-g6af271c+htslib-1.9-64-g226b4a8",
    "bcftools_annotateCommand": "annotate -a /mnt/storage/home/gh13047/mr-eve/vcf-reference-datasets/dbsnp/dbsnp.v153.b37.vcf.gz -c ID -o /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ukb-d-import/processed/ukb-d-20548_9/ukb-d-20548_9.vcf.gz -O z /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ukb-d-import/processed/ukb-d-20548_9/ukb-d-20548_9_data.vcf.gz; Date=Mon Nov 25 15:39:28 2019",
    "bcftools_viewVersion": "1.9-74-g6af271c+htslib-1.9-64-g226b4a8",
    "bcftools_viewCommand": "view -h /mnt/storage/private/mrcieu/research/scratch/IGD/data/public/ukb-d-20548_9/ukb-d-20548_9.vcf.gz; Date=Sun May 10 14:43:18 2020"
}

LDSC

*********************************************************************
* LD Score Regression (LDSC)
* Version 1.0.1
* (C) 2014-2019 Brendan Bulik-Sullivan and Hilary Finucane
* Broad Institute of MIT and Harvard / MIT Department of Mathematics
* GNU General Public License v3
*********************************************************************
Call: 
./ldsc.py \
--h2 /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ukb-d-import/processed/ukb-d-20548_9/ukb-d-20548_9.vcf.gz \
--ref-ld-chr /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/reference/eur_w_ld_chr/ \
--out /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ukb-d-import/processed/ukb-d-20548_9/ldsc.txt \
--w-ld-chr /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/reference/eur_w_ld_chr/ 

Beginning analysis at Mon Nov 25 16:45:39 2019
Reading summary statistics from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ukb-d-import/processed/ukb-d-20548_9/ukb-d-20548_9.vcf.gz ...
Read summary statistics for 12268227 SNPs.
Dropped 10846 SNPs with duplicated rs numbers.
Reading reference panel LD Score from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/reference/eur_w_ld_chr/[1-22] ...
Read reference panel LD Scores for 1290028 SNPs.
Removing partitioned LD Scores with zero variance.
Reading regression weight LD Score from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/reference/eur_w_ld_chr/[1-22] ...
Read regression weight LD Scores for 1290028 SNPs.
After merging with reference panel LD, 1283178 SNPs remain.
After merging with regression SNP LD, 1283178 SNPs remain.
Using two-step estimator with cutoff at 30.
Total Observed scale h2: 0.0196 (0.0042)
Lambda GC: 1.0449
Mean Chi^2: 1.0421
Intercept: 0.9982 (0.0064)
Ratio < 0 (usually indicates GC correction).
Analysis finished at Mon Nov 25 16:47:26 2019
Total time elapsed: 1.0m:47.26s

QC metrics

Metrics

Metrics

{
    "af_correlation": 0.9496,
    "inflation_factor": 1.0343,
    "mean_EFFECT": 0,
    "n": 114422,
    "n_snps": 12268227,
    "n_clumped_hits": 0,
    "n_p_sig": 0,
    "n_mono": 0,
    "n_ns": 1196376,
    "n_mac": 0,
    "is_snpid_unique": false,
    "n_miss_EFFECT": 0,
    "n_miss_SE": 0,
    "n_miss_PVAL": 0,
    "n_miss_AF": 0,
    "n_miss_AF_reference": 313156,
    "n_est": 114743.7377,
    "ratio_se_n": 1.0014,
    "mean_diff": 0,
    "ratio_diff": 44.2575,
    "sd_y_est1": 0.2176,
    "sd_y_est2": 0.218,
    "r2_sum1": 0,
    "r2_sum2": 0,
    "r2_sum3": 0,
    "r2_sum4": 0,
    "ldsc_nsnp_merge_refpanel_ld": 1283178,
    "ldsc_nsnp_merge_regression_ld": 1283178,
    "ldsc_observed_scale_h2_beta": 0.0196,
    "ldsc_observed_scale_h2_se": 0.0042,
    "ldsc_intercept_beta": 0.9982,
    "ldsc_intercept_se": 0.0064,
    "ldsc_lambda_gc": 1.0449,
    "ldsc_mean_chisq": 1.0421,
    "ldsc_ratio": -0.0428
}

Flags

name value
af_correlation FALSE
inflation_factor FALSE
n FALSE
is_snpid_non_unique TRUE
mean_EFFECT_nonfinite FALSE
mean_EFFECT_05 FALSE
mean_EFFECT_01 FALSE
mean_chisq FALSE
n_p_sig FALSE
miss_EFFECT FALSE
miss_SE FALSE
miss_PVAL FALSE
ldsc_ratio FALSE
ldsc_intercept_beta FALSE
n_clumped_hits FALSE
r2_sum1 FALSE
r2_sum2 FALSE
r2_sum3 FALSE
r2_sum4 FALSE

Definitions

General metrics

  • af_correlation: Correlation coefficient between AF and AF_reference.
  • inflation_factor (lambda): Genomic inflation factor.
  • mean_EFFECT: Mean of EFFECT size.
  • n: Maximum value of reported sample size across all SNPs, \(n\).
  • n_clumped_hits: Number of clumped hits.
  • n_snps: Number of SNPs
  • n_p_sig: Number of SNPs with pvalue below 5e-8.
  • n_mono: Number of monomorphic (MAF == 1 or MAF == 0) SNPs.
  • n_ns: Number of SNPs with nonsense values:
    • alleles other than A, C, G or T.
    • P-values < 0 or > 1.
    • negative or infinite standard errors (<= 0 or = Infinity).
    • infinite beta estimates or allele frequencies < 0 or > 1.
  • n_mac: Number of cases where MAC (\(2 \times N \times MAF\)) is less than 6.
  • is_snpid_unique: true if the combination of ID REF ALT is unique and therefore no duplication in snpid.
  • n_miss_<*>: Number of NA observations for <*> column.

se_n metrics

  • n_est: Estimated sample size value, \(\widehat{n}\).
  • ratio_se_n: \(\texttt{ratio_se_n} = \frac{\sqrt{\widehat{n}}}{\sqrt{n}}\). We expect ratio_se_n to be 1. When it is not 1, it implies that the trait did not have a variance of 1, the reported sample size is wrong, or that the SNP-level effective sample sizes differ markedly from the reported sample size.
  • mean_diff: \(\texttt{mean_diff} = \sum_{j} \frac{\widehat{\beta_j^{std}} - \beta_j}{\texttt{n_snps}}\), mean difference between the standardised beta, predicted from P-values, and the observed beta. The difference should be very close to zero if trait has a variance of 1.
    • \(\widehat{\beta_j^{std}} = \sqrt{\frac{{z}_j^2 / ({z}_j^2 + n -2)}{2 \times {MAF}_j \times (1 - {MAF}_j)}} \times sign({z}_j)\),
    • \({z}_j = \frac{\beta_j}{{se}_j}\),
    • and \(\beta_j\) is the reported effect size.
  • ratio_diff: \(\texttt{ratio_diff} = |\frac{\texttt{mean_diff}}{\texttt{mean_diff2}}|\), absolute ratio between the mean of diff and the mean of diff2 (expected difference between the standardised beta predicted from P-values, and the standardised beta derived from the observed beta divided by the predicted SD; NOT reported). The ratio should be close to 1. If different from 1, then implies that the betas are not in a standard deviation scale.
    • \(\texttt{mean_diff2} = \sum_{j} \frac{\widehat{\beta_j^{std}} - \beta^{\prime}_j}{\texttt{n_snps}}\)
    • \(\beta^{\prime}_j = \frac{\beta_j}{\widehat{\texttt{sd2}}_{y}}\)
  • sd_y_est1: The standard deviation for the trait inferred from the reported sample size, median standard errors for the SNP-trait assocations and SNP variances.
    • \(\widehat{\texttt{sd1}}_{y} = \frac{\sqrt{n} \times median({se}_j)}{C}\),
    • \(C = median(\frac{1}{\sqrt{2 \times {MAF}_j \times (1 - {MAF}_j)}})\),
    • and \({se}_j\) is the reported standard error.
  • sd_y_est2: The standard deviation for the trait inferred from the reported sample size, Z statistics for the SNP-trait effects (beta/se) and allele frequency.
    • \(\widehat{\texttt{sd2}}_{y} = median(\widehat{sd_j})\),
    • \(\widehat{sd_j} = \frac{\beta_j}{\widehat{\beta_j^{std}}}\),

r2 metrics

Sum of variance explained, calculated from the clumped top hits sample.

  • r2_sum<*>: r2 statistics under various assumptions
    • 1: \(r^2 = \sum_j{\frac{2 \times \beta_j^2 \times {MAF}_j \times (1 - {MAF}_j)}{\texttt{var1}}}\), \(\texttt{var1} = 1\).
    • 2: \(r^2 = \sum_j{\frac{2 \times \beta_j^2 \times {MAF}_j \times (1 - {MAF}_j)}{\texttt{var2}}}\), \(\texttt{var2} = {\widehat{\texttt{sd1}}_{y}}^2\),
    • 3: \(r^2 = \sum_j{\frac{2 \times \beta_j^2 \times {MAF}_j \times (1 - {MAF}_j)}{\texttt{var3}}}\), \(\texttt{var3} = {\widehat{\texttt{sd2}}_{y}}^2\),
    • 4: \(r^2 = \sum_j{\frac{F_j}{F_j + n - 2}}\), \(F = \frac{\beta_j^2}{{se}_j^2}\).

LDSC metrics

Metrics from LD regression

  • ldsc_nsnp_merge_refpanel_ld: Number of remaining SNPs after merging with reference panel LD.
  • ldsc_nsnp_merge_regression_ld: Number of remaining SNPs after merging with regression SNP LD.
  • ldsc_observed_scale_h2_{beta,se} Coefficient value and SE for total observed scale h2.
  • ldsc_intercept_{beta,se}: Coefficient value and SE for intercept. Intercept is expected to be 1.
  • ldsc_lambda_gc: Lambda GC statistics.
  • ldsc_mean_chisq: Mean \(\chi^2\) statistics.
  • ldsc_ratio: \(\frac{\texttt{ldsc_intercept_beta} - 1}{\texttt{ldsc_mean_chisq} - 1}\), the proportion of the inflation in the mean \(\chi^2\) that the LD Score regression intercepts ascribes to causes other than polygenic heritability. The value of ratio should be close to zero, though in practice values of 0.1-0.2 are not uncommon, probably due to sample/reference LD Score mismatch or model misspecification (e.g., low LD variants have slightly higher \(h^2\) per SNP).

Flags

When a metric needs attention, the flag should return TRUE.

  • af_correlation: abs(af_correlation) < 0.7.
  • inflation_factor: inflation_factor > 1.2.
  • n: n (max reported sample size) < 10000.
  • is_snpid_non_unique: NOT is_snpid_unique.
  • mean_EFFECT_nonfinite: mean(EFFECT) is NA, NaN, or Inf.
  • mean_EFFECT_05: abs(mean(EFFECT)) > 0.5.
  • mean_EFFECT_01: abs(mean(EFFECT)) > 0.1.
  • mean_chisq: ldsc_mean_chisq > 1.3 or ldsc_mean_chisq < 0.7.
  • n_p_sig: n_p_sig > 1000.
  • miss_<*>: n_miss_<*> / n_snps > 0.01.
  • ldsc_ratio: ldsc_ratio > 0.5
  • ldsc_intercept_beta: ldsc_intercept_beta > 1.5
  • n_clumped_hits: n_clumped_hits > 1000
  • r2_sum<*>: r2_sum<*> > 0.5

Plots

  • Manhattan plot
    • Red line: \(-log_{10}^{5 \times 10^{-8}}\)
    • Blue line: \(-log_{10}^{5 \times 10^{-5}}\)
  • QQ plot
  • AF plot
  • P-Z plot
  • beta_std plot: Scatter plot between \(\widehat{\beta_j^{std}}\) and \(\beta_j\)

Diagnostics

Details

Summary stats

skim_type skim_variable n_missing complete_rate character.min character.max character.empty character.n_unique character.whitespace numeric.mean numeric.sd numeric.p0 numeric.p25 numeric.p50 numeric.p75 numeric.p100 numeric.hist
character ID 0 1.0000000 3 94 0 12258006 0 NA NA NA NA NA NA NA NA
character REF 0 1.0000000 1 100 0 54022 0 NA NA NA NA NA NA NA NA
character ALT 0 1.0000000 1 342 0 32364 0 NA NA NA NA NA NA NA NA
numeric CHROM 0 1.0000000 NA NA NA NA NA 9.065189e+00 6.184552e+00 1.00000e+00 4.000000e+00 8.000000e+00 1.300000e+01 2.300000e+01 ▇▅▅▂▂
numeric POS 0 1.0000000 NA NA NA NA NA 7.892181e+07 5.596671e+07 3.02000e+02 3.274230e+07 6.996058e+07 1.147864e+08 2.492309e+08 ▇▆▅▂▁
numeric EFFECT 0 1.0000000 NA NA NA NA NA 1.060000e-05 3.832800e-03 -4.53845e-02 -1.276700e-03 -8.900000e-06 1.253000e-03 4.804520e-02 ▁▁▇▁▁
numeric SE 0 1.0000000 NA NA NA NA NA 2.906000e-03 2.476200e-03 7.53500e-04 1.053100e-03 1.711500e-03 4.040700e-03 1.468250e-02 ▇▂▁▁▁
numeric PVAL 0 1.0000000 NA NA NA NA NA 4.945737e-01 2.897060e-01 2.00000e-07 2.424052e-01 4.927300e-01 7.449326e-01 1.000000e+00 ▇▇▇▇▇
numeric PVAL_ztest 0 1.0000000 NA NA NA NA NA 4.945722e-01 2.897068e-01 2.00000e-07 2.424035e-01 4.927287e-01 7.449318e-01 9.999997e-01 ▇▇▇▇▇
numeric AF 0 1.0000000 NA NA NA NA NA 2.102077e-01 2.586025e-01 2.19760e-03 1.358430e-02 8.605860e-02 3.330070e-01 9.978020e-01 ▇▂▁▁▁
numeric AF_reference 313156 0.9744742 NA NA NA NA NA 2.120714e-01 2.502318e-01 0.00000e+00 1.038340e-02 1.064300e-01 3.366610e-01 1.000000e+00 ▇▂▁▁▁
numeric N 0 1.0000000 NA NA NA NA NA 1.144220e+05 0.000000e+00 1.14422e+05 1.144220e+05 1.144220e+05 1.144220e+05 1.144220e+05 ▁▁▇▁▁

Head and tail

CHROM POS ID REF ALT EFFECT SE PVAL PVAL_ztest AF AF_reference N
1 692794 rs530212009 CA C -0.0004627 0.0015857 0.7704474 0.7704479 0.1117110 0.1894970 114422
1 693731 rs12238997 A G 0.0002711 0.0015023 0.8567760 0.8567761 0.1166780 0.1417730 114422
1 707522 rs371890604 G C 0.0005782 0.0016853 0.7315432 0.7315417 0.0983298 0.1293930 114422
1 717587 rs144155419 G A -0.0011126 0.0040381 0.7829175 0.7829152 0.0157526 0.0045926 114422
1 730087 rs148120343 T C -0.0001066 0.0020900 0.9593169 0.9593166 0.0568713 0.0127796 114422
1 731718 rs142557973 T C 0.0004472 0.0014255 0.7537095 0.7537083 0.1226010 0.1543530 114422
1 732032 rs61770163 A C 0.0003188 0.0015192 0.8337639 0.8337630 0.1222220 0.1555510 114422
1 734349 rs141242758 T C 0.0003460 0.0014262 0.8083350 0.8083346 0.1218520 0.1525560 114422
1 740284 rs61770167 C T -0.0028507 0.0065040 0.6611683 0.6611668 0.0058609 0.0023962 114422
1 749963 rs529266287 T TAA 0.0003156 0.0014050 0.8222480 0.8222481 0.8690450 0.7641770 114422
CHROM POS ID REF ALT EFFECT SE PVAL PVAL_ztest AF AF_reference N
23 154923311 rs141127553 C T 0.0006609 0.0016760 0.6933284 0.6933269 0.0553623 0.0309934 114422
23 154923374 rs111332691 T A -0.0006499 0.0018243 0.7216573 0.7216556 0.0448384 0.0116556 114422
23 154925045 rs509981 C T 0.0010708 0.0008792 0.2232462 0.2232415 0.2446210 0.3634440 114422
23 154925895 rs538470 C T 0.0011016 0.0008991 0.2205027 0.2205010 0.2409890 0.3634440 114422
23 154927581 rs644138 G A 0.0011064 0.0008273 0.1810869 0.1810854 0.3003390 0.4635760 114422
23 154929412 rs557132 C T 0.0010429 0.0008794 0.2356340 0.2356305 0.2444980 0.3568210 114422
23 154929637 rs35185538 CT C 0.0005921 0.0009185 0.5191920 0.5191907 0.2287980 0.3011920 114422
23 154929952 rs4012982 CAA C 0.0008541 0.0009256 0.3561443 0.3561415 0.2385330 0.3165560 114422
23 154930230 rs781880 A G 0.0010266 0.0008792 0.2429238 0.2429213 0.2449060 0.3618540 114422
23 154930487 rs781879 T A 0.0011912 0.0029836 0.6896996 0.6896982 0.0197245 0.1263580 114422

bcf preview

1   692794  rs530212009 CA  C   .   PASS    AF=0.111711 ES:SE:LP:AF:SS:ID   -0.000462684:0.00158568:0.113257:0.111711:114422:1_692794_CA_C
1   693731  rs12238997  A   G   .   PASS    AF=0.116678 ES:SE:LP:AF:SS:ID   0.000271138:0.00150232:0.0671327:0.116678:114422:rs12238997
1   707522  rs371890604 G   C   .   PASS    AF=0.0983298    ES:SE:LP:AF:SS:ID   0.000578185:0.0016853:0.13576:0.0983298:114422:rs371890604
1   717587  rs144155419 G   A   .   PASS    AF=0.0157526    ES:SE:LP:AF:SS:ID   -0.00111258:0.00403808:0.106284:0.0157526:114422:rs144155419
1   730087  rs148120343 T   C   .   PASS    AF=0.0568713    ES:SE:LP:AF:SS:ID   -0.000106613:0.00208999:0.0180379:0.0568713:114422:rs148120343
1   731718  rs58276399  T   C   .   PASS    AF=0.122601 ES:SE:LP:AF:SS:ID   0.000447243:0.00142546:0.122796:0.122601:114422:rs58276399
1   732032  rs61770163  A   C   .   PASS    AF=0.122222 ES:SE:LP:AF:SS:ID   0.000318838:0.00151916:0.0789569:0.122222:114422:rs61770163
1   734349  rs141242758 T   C   .   PASS    AF=0.121852 ES:SE:LP:AF:SS:ID   0.000345963:0.00142621:0.0924086:0.121852:114422:rs141242758
1   740284  rs61770167  C   T   .   PASS    AF=0.0058609    ES:SE:LP:AF:SS:ID   -0.00285073:0.00650402:0.179688:0.0058609:114422:rs61770167
1   749963  rs529266287 T   TAA .   PASS    AF=0.869045 ES:SE:LP:AF:SS:ID   0.000315635:0.00140498:0.0849972:0.869045:114422:rs529266287
1   751343  rs28544273  T   A   .   PASS    AF=0.123663 ES:SE:LP:AF:SS:ID   -0.000291416:0.00139212:0.0787355:0.123663:114422:rs28544273
1   751488  rs200141114 G   GA  .   PASS    AF=0.143266 ES:SE:LP:AF:SS:ID   -0.000845413:0.00137693:0.268228:0.143266:114422:rs200141114
1   751756  rs28527770  T   C   .   PASS    AF=0.123787 ES:SE:LP:AF:SS:ID   -0.000259691:0.00139019:0.0696547:0.123787:114422:rs28527770
1   753405  rs3115860   C   A   .   PASS    AF=0.86984  ES:SE:LP:AF:SS:ID   -0.000208668:0.00135412:0.0567365:0.86984:114422:rs3115860
1   753425  rs3131970   T   C   .   PASS    AF=0.874607 ES:SE:LP:AF:SS:ID   6.20404e-05:0.00137667:0.0158982:0.874607:114422:rs3131970
1   753541  rs2073813   G   A   .   PASS    AF=0.129637 ES:SE:LP:AF:SS:ID   0.000141539:0.0013578:0.0376411:0.129637:114422:rs2073813
1   754105  rs12184325  C   T   .   PASS    AF=0.0366494    ES:SE:LP:AF:SS:ID   0.00358919:0.00246101:0.83945:0.0366494:114422:rs12184325
1   754182  rs3131969   A   G   .   PASS    AF=0.869441 ES:SE:LP:AF:SS:ID   -0.000273516:0.00135283:0.0758365:0.869441:114422:rs3131969
1   754192  rs3131968   A   G   .   PASS    AF=0.869515 ES:SE:LP:AF:SS:ID   -0.000262657:0.00135335:0.0725711:0.869515:114422:rs3131968
1   754334  rs3131967   T   C   .   PASS    AF=0.86944  ES:SE:LP:AF:SS:ID   -0.000275519:0.0013528:0.0764374:0.86944:114422:rs3131967
1   754433  rs150578204 G   A   .   PASS    AF=0.00515222   ES:SE:LP:AF:SS:ID   0.00329462:0.00688838:0.198975:0.00515222:114422:rs150578204
1   754458  rs142682604 G   T   .   PASS    AF=0.00512096   ES:SE:LP:AF:SS:ID   0.00342756:0.00690357:0.207925:0.00512096:114422:rs142682604
1   755435  rs184270342 T   G   .   PASS    AF=0.00569216   ES:SE:LP:AF:SS:ID   0.00121289:0.00666362:0.0677444:0.00569216:114422:rs184270342
1   755890  rs3115858   A   T   .   PASS    AF=0.869508 ES:SE:LP:AF:SS:ID   -0.000167239:0.00135033:0.0450665:0.869508:114422:rs3115858
1   756434  rs61768170  G   C   .   PASS    AF=0.126917 ES:SE:LP:AF:SS:ID   -0.000142728:0.00137822:0.0373849:0.126917:114422:rs61768170
1   756604  rs3131962   A   G   .   PASS    AF=0.869029 ES:SE:LP:AF:SS:ID   -0.00032511:0.00134677:0.0919194:0.869029:114422:rs3131962
1   757640  rs3115853   G   A   .   PASS    AF=0.868436 ES:SE:LP:AF:SS:ID   -0.000221785:0.00134632:0.0609033:0.868436:114422:rs3115853
1   757734  rs4951929   C   T   .   PASS    AF=0.869215 ES:SE:LP:AF:SS:ID   -0.000200922:0.00134811:0.0547668:0.869215:114422:rs4951929
1   757936  rs4951862   C   A   .   PASS    AF=0.869222 ES:SE:LP:AF:SS:ID   -0.000202349:0.0013482:0.055174:0.869222:114422:rs4951862
1   758144  rs3131956   A   G   .   PASS    AF=0.869224 ES:SE:LP:AF:SS:ID   -0.000200874:0.00134821:0.0547486:0.869224:114422:rs3131956
1   758626  rs3131954   C   T   .   PASS    AF=0.869663 ES:SE:LP:AF:SS:ID   -0.000200061:0.00135168:0.054366:0.869663:114422:rs3131954
1   759293  rs10157329  T   A   .   PASS    AF=0.099489 ES:SE:LP:AF:SS:ID   0.0002519:0.00157134:0.0591659:0.099489:114422:rs10157329
1   759600  rs545998451 AGT A   .   PASS    AF=0.00655187   ES:SE:LP:AF:SS:ID   0.00202986:0.00604764:0.132451:0.00655187:114422:1_759600_AGT_A
1   759837  rs3115851   T   A   .   PASS    AF=0.873708 ES:SE:LP:AF:SS:ID   0.00010222:0.0013722:0.0265872:0.873708:114422:rs3115851
1   761732  rs2286139   C   T   .   PASS    AF=0.863017 ES:SE:LP:AF:SS:ID   -0.000268846:0.00134604:0.0748473:0.863017:114422:rs2286139
1   761752  rs1057213   C   T   .   PASS    AF=0.868401 ES:SE:LP:AF:SS:ID   -0.000135609:0.00135879:0.0359753:0.868401:114422:rs1057213
1   762273  rs3115849   G   A   .   PASS    AF=0.865415 ES:SE:LP:AF:SS:ID   -9.11941e-05:0.00135894:0.0238808:0.865415:114422:rs3115849
1   762485  rs12095200  C   A   .   PASS    AF=0.0997473    ES:SE:LP:AF:SS:ID   -0.0002363:0.00162364:0.0534068:0.0997473:114422:rs12095200
1   762589  rs3115848   G   C   .   PASS    AF=0.870695 ES:SE:LP:AF:SS:ID   0.000154667:0.00137491:0.040752:0.870695:114422:rs3115848
1   762592  rs3131950   C   G   .   PASS    AF=0.870695 ES:SE:LP:AF:SS:ID   0.000154687:0.00137491:0.0407577:0.870695:114422:rs3131950
1   762601  rs3131949   T   C   .   PASS    AF=0.870693 ES:SE:LP:AF:SS:ID   0.000153574:0.00137491:0.0404516:0.870693:114422:rs3131949
1   762632  rs3131948   T   A   .   PASS    AF=0.871018 ES:SE:LP:AF:SS:ID   0.000193919:0.00137551:0.0516423:0.871018:114422:rs3131948
1   764191  rs7515915   T   G   .   PASS    AF=0.126512 ES:SE:LP:AF:SS:ID   -0.000275608:0.00137667:0.0750362:0.126512:114422:rs7515915
1   766007  rs61768174  A   C   .   PASS    AF=0.106279 ES:SE:LP:AF:SS:ID   -0.000160728:0.00149598:0.0388448:0.106279:114422:rs61768174
1   766105  rs2519015   T   A   .   PASS    AF=0.854464 ES:SE:LP:AF:SS:ID   -0.000617441:0.00134562:0.189538:0.854464:114422:rs2519015
1   768116  rs376645387 A   AGTTTT  .   PASS    AF=0.839076 ES:SE:LP:AF:SS:ID   0.000331651:0.00133224:0.0950649:0.839076:114422:rs376645387
1   768253  rs2977608   A   C   .   PASS    AF=0.763122 ES:SE:LP:AF:SS:ID   0.000303958:0.00106811:0.110155:0.763122:114422:rs2977608
1   768448  rs12562034  G   A   .   PASS    AF=0.105233 ES:SE:LP:AF:SS:ID   -0.000828503:0.00147692:0.240468:0.105233:114422:rs12562034
1   768819  rs12562811  C   T   .   PASS    AF=0.00774894   ES:SE:LP:AF:SS:ID   -0.00100686:0.00544969:0.0688367:0.00774894:114422:rs12562811
1   769138  rs59306077  CAT C   .   PASS    AF=0.12991  ES:SE:LP:AF:SS:ID   -0.000203759:0.00135712:0.0551947:0.12991:114422:rs762168062