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-J32,TotalVariants=9646740,VariantsNotRead=0,HarmonisedVariants=9646740,VariantsNotHarmonised=0,SwitchedAlleles=208,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-J32/ukb-d-J32_data.json --ref /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/QC/genomes/b37/human_g1k_v37.fasta; 1.1.1",
    "file_date": "2019-11-25T17:15:40.815593",
    "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-J32/ukb-d-J32.vcf.gz -O z /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ukb-d-import/processed/ukb-d-J32/ukb-d-J32_data.vcf.gz; Date=Mon Nov 25 17:26:21 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-J32/ukb-d-J32.vcf.gz; Date=Sat May  9 18:58:51 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-J32/ukb-d-J32.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-J32/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 17:50:27 2019
Reading summary statistics from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ukb-d-import/processed/ukb-d-J32/ukb-d-J32.vcf.gz ...
Read summary statistics for 9646740 SNPs.
Dropped 7247 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, 1274884 SNPs remain.
After merging with regression SNP LD, 1274884 SNPs remain.
Using two-step estimator with cutoff at 30.
Total Observed scale h2: 0.0011 (0.0012)
Lambda GC: 1.0152
Mean Chi^2: 1.0091
Intercept: 1.0013 (0.0062)
Ratio: 0.146 (0.6851)
Analysis finished at Mon Nov 25 17:52:03 2019
Total time elapsed: 1.0m:35.71s

QC metrics

Metrics

Metrics

{
    "af_correlation": 0.9397,
    "inflation_factor": 1.0138,
    "mean_EFFECT": 6.3286e-07,
    "n": 361194,
    "n_snps": 9646740,
    "n_clumped_hits": 0,
    "n_p_sig": 0,
    "n_mono": 0,
    "n_ns": 1060457,
    "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": 192361,
    "n_est": 361025.0266,
    "ratio_se_n": 0.9998,
    "mean_diff": 9.9347e-06,
    "ratio_diff": 42.8934,
    "sd_y_est1": 0.0586,
    "sd_y_est2": 0.0586,
    "r2_sum1": 0,
    "r2_sum2": 0,
    "r2_sum3": 0,
    "r2_sum4": 0,
    "ldsc_nsnp_merge_refpanel_ld": 1274884,
    "ldsc_nsnp_merge_regression_ld": 1274884,
    "ldsc_observed_scale_h2_beta": 0.0011,
    "ldsc_observed_scale_h2_se": 0.0012,
    "ldsc_intercept_beta": 1.0013,
    "ldsc_intercept_se": 0.0062,
    "ldsc_lambda_gc": 1.0152,
    "ldsc_mean_chisq": 1.0091,
    "ldsc_ratio": 0.1429
}

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 9640041 0 NA NA NA NA NA NA NA NA
character REF 0 1.0000000 1 98 0 46946 0 NA NA NA NA NA NA NA NA
character ALT 0 1.0000000 1 342 0 29642 0 NA NA NA NA NA NA NA NA
numeric CHROM 0 1.0000000 NA NA NA NA NA 9.079242e+00 6.175338e+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 7.873432e+07 5.611525e+07 3.02000e+02 3.242845e+07 6.961708e+07 1.147452e+08 2.492297e+08 ▇▆▅▂▁
numeric EFFECT 0 1.0000000 NA NA NA NA NA 6.000000e-07 3.083000e-04 -3.00040e-03 -1.505000e-04 -1.300000e-06 1.477000e-04 3.428100e-03 ▁▁▇▁▁
numeric SE 0 1.0000000 NA NA NA NA NA 2.677000e-04 1.512000e-04 1.13500e-04 1.509000e-04 2.007000e-04 3.420000e-04 8.198000e-04 ▇▂▂▁▁
numeric PVAL 0 1.0000000 NA NA NA NA NA 4.978559e-01 2.888982e-01 2.00000e-07 2.469022e-01 4.970648e-01 7.475737e-01 1.000000e+00 ▇▇▇▇▇
numeric PVAL_ztest 0 1.0000000 NA NA NA NA NA 4.978554e-01 2.888984e-01 2.00000e-07 2.469015e-01 4.970646e-01 7.475742e-01 9.999999e-01 ▇▇▇▇▇
numeric AF 0 1.0000000 NA NA NA NA NA 2.629200e-01 2.628518e-01 1.01051e-02 4.507830e-02 1.613520e-01 4.181890e-01 9.898930e-01 ▇▂▂▁▁
numeric AF_reference 192361 0.9800595 NA NA NA NA NA 2.623714e-01 2.536621e-01 0.00000e+00 5.131790e-02 1.763180e-01 4.135380e-01 1.000000e+00 ▇▃▂▁▁
numeric N 0 1.0000000 NA NA NA NA NA 3.611940e+05 0.000000e+00 3.61194e+05 3.611940e+05 3.611940e+05 3.611940e+05 3.611940e+05 ▁▁▇▁▁

Head and tail

CHROM POS ID REF ALT EFFECT SE PVAL PVAL_ztest AF AF_reference N
1 692794 rs530212009 CA C 0.0001617 0.0002417 0.5033546 0.5033537 0.1106400 0.1894970 361194
1 693731 rs12238997 A G 0.0003896 0.0002284 0.0879873 0.0879853 0.1158300 0.1417730 361194
1 707522 rs371890604 G C 0.0001718 0.0002567 0.5034786 0.5034782 0.0973034 0.1293930 361194
1 717587 rs144155419 G A 0.0006916 0.0006126 0.2589650 0.2589642 0.0156880 0.0045926 361194
1 730087 rs148120343 T C -0.0001650 0.0003182 0.6039458 0.6039448 0.0564602 0.0127796 361194
1 731718 rs142557973 T C 0.0002356 0.0002166 0.2766738 0.2766746 0.1217380 0.1543530 361194
1 732032 rs61770163 A C 0.0003222 0.0002310 0.1631699 0.1631689 0.1211710 0.1555510 361194
1 734349 rs141242758 T C 0.0002357 0.0002167 0.2766897 0.2766893 0.1209650 0.1525560 361194
1 749963 rs529266287 T TAA -0.0002739 0.0002136 0.1997920 0.1997921 0.8697420 0.7641770 361194
1 751343 rs28544273 T A 0.0002287 0.0002116 0.2796842 0.2796825 0.1229160 0.2426120 361194
CHROM POS ID REF ALT EFFECT SE PVAL PVAL_ztest AF AF_reference N
23 154923311 rs141127553 C T -0.0002490 0.0002502 0.3195987 0.3196000 0.0561667 0.0309934 361194
23 154923374 rs111332691 T A 0.0002506 0.0002750 0.3620670 0.3620660 0.0447862 0.0116556 361194
23 154925045 rs509981 C T -0.0000774 0.0001323 0.5584020 0.5584007 0.2456060 0.3634440 361194
23 154925895 rs538470 C T -0.0000517 0.0001354 0.7022423 0.7022420 0.2419150 0.3634440 361194
23 154927581 rs644138 G A -0.0001346 0.0001244 0.2793753 0.2793722 0.3021620 0.4635760 361194
23 154929412 rs557132 C T -0.0000755 0.0001324 0.5682442 0.5682430 0.2454590 0.3568210 361194
23 154929637 rs35185538 CT C 0.0000031 0.0001381 0.9820040 0.9820043 0.2296970 0.3011920 361194
23 154929952 rs4012982 CAA C -0.0000450 0.0001392 0.7463388 0.7463386 0.2394250 0.3165560 361194
23 154930230 rs781880 A G -0.0000605 0.0001323 0.6473751 0.6473744 0.2458690 0.3618540 361194
23 154930487 rs781879 T A -0.0001156 0.0004540 0.7989701 0.7989692 0.0195623 0.1263580 361194

bcf preview

1   692794  rs530212009 CA  C   .   PASS    AF=0.11064  ES:SE:LP:AF:SS:ID   0.000161749:0.000241697:0.298126:0.11064:361194:1_692794_CA_C
1   693731  rs12238997  A   G   .   PASS    AF=0.11583  ES:SE:LP:AF:SS:ID   0.000389634:0.000228374:1.05558:0.11583:361194:rs12238997
1   707522  rs371890604 G   C   .   PASS    AF=0.0973034    ES:SE:LP:AF:SS:ID   0.000171766:0.00025674:0.298019:0.0973034:361194:rs371890604
1   717587  rs144155419 G   A   .   PASS    AF=0.015688 ES:SE:LP:AF:SS:ID   0.000691581:0.000612646:0.586759:0.015688:361194:rs144155419
1   730087  rs148120343 T   C   .   PASS    AF=0.0564602    ES:SE:LP:AF:SS:ID   -0.000165039:0.000318156:0.219002:0.0564602:361194:rs148120343
1   731718  rs58276399  T   C   .   PASS    AF=0.121738 ES:SE:LP:AF:SS:ID   0.000235612:0.000216591:0.558032:0.121738:361194:rs58276399
1   732032  rs61770163  A   C   .   PASS    AF=0.121171 ES:SE:LP:AF:SS:ID   0.000322178:0.000231036:0.78736:0.121171:361194:rs61770163
1   734349  rs141242758 T   C   .   PASS    AF=0.120965 ES:SE:LP:AF:SS:ID   0.000235731:0.000216707:0.558007:0.120965:361194:rs141242758
1   749963  rs529266287 T   TAA .   PASS    AF=0.869742 ES:SE:LP:AF:SS:ID   -0.000273916:0.000213639:0.699422:0.869742:361194:rs529266287
1   751343  rs28544273  T   A   .   PASS    AF=0.122916 ES:SE:LP:AF:SS:ID   0.000228726:0.000211581:0.553332:0.122916:361194:rs28544273
1   751488  rs200141114 G   GA  .   PASS    AF=0.142712 ES:SE:LP:AF:SS:ID   0.000177181:0.000209137:0.401336:0.142712:361194:rs200141114
1   751756  rs28527770  T   C   .   PASS    AF=0.123031 ES:SE:LP:AF:SS:ID   0.000229252:0.000211287:0.556094:0.123031:361194:rs28527770
1   753405  rs3115860   C   A   .   PASS    AF=0.87089  ES:SE:LP:AF:SS:ID   -0.000216854:0.000205892:0.534274:0.87089:361194:rs3115860
1   753425  rs3131970   T   C   .   PASS    AF=0.875472 ES:SE:LP:AF:SS:ID   -0.000226495:0.000209304:0.554094:0.875472:361194:rs3131970
1   753541  rs2073813   G   A   .   PASS    AF=0.128631 ES:SE:LP:AF:SS:ID   0.000183954:0.000206408:0.428508:0.128631:361194:rs2073813
1   754105  rs12184325  C   T   .   PASS    AF=0.0363613    ES:SE:LP:AF:SS:ID   -0.000470338:0.000374472:0.679613:0.0363613:361194:rs12184325
1   754182  rs3131969   A   G   .   PASS    AF=0.870484 ES:SE:LP:AF:SS:ID   -0.000205183:0.000205678:0.496921:0.870484:361194:rs3131969
1   754192  rs3131968   A   G   .   PASS    AF=0.870589 ES:SE:LP:AF:SS:ID   -0.000204329:0.000205772:0.493877:0.870589:361194:rs3131968
1   754334  rs3131967   T   C   .   PASS    AF=0.870481 ES:SE:LP:AF:SS:ID   -0.000205657:0.00020567:0.49847:0.870481:361194:rs3131967
1   755890  rs3115858   A   T   .   PASS    AF=0.870563 ES:SE:LP:AF:SS:ID   -0.00022867:0.000205308:0.576145:0.870563:361194:rs3115858
1   756434  rs61768170  G   C   .   PASS    AF=0.125985 ES:SE:LP:AF:SS:ID   0.000234804:0.00020949:0.581106:0.125985:361194:rs61768170
1   756604  rs3131962   A   G   .   PASS    AF=0.870127 ES:SE:LP:AF:SS:ID   -0.000240005:0.000204814:0.617495:0.870127:361194:rs3131962
1   757640  rs3115853   G   A   .   PASS    AF=0.869414 ES:SE:LP:AF:SS:ID   -0.000208728:0.000204628:0.511857:0.869414:361194:rs3115853
1   757734  rs4951929   C   T   .   PASS    AF=0.870281 ES:SE:LP:AF:SS:ID   -0.000234806:0.000204991:0.598556:0.870281:361194:rs4951929
1   757936  rs4951862   C   A   .   PASS    AF=0.870287 ES:SE:LP:AF:SS:ID   -0.000234965:0.000205005:0.599051:0.870287:361194:rs4951862
1   758144  rs3131956   A   G   .   PASS    AF=0.870295 ES:SE:LP:AF:SS:ID   -0.000234989:0.000205012:0.59911:0.870295:361194:rs3131956
1   758626  rs3131954   C   T   .   PASS    AF=0.870739 ES:SE:LP:AF:SS:ID   -0.000231516:0.000205534:0.585042:0.870739:361194:rs3131954
1   759293  rs10157329  T   A   .   PASS    AF=0.0988442    ES:SE:LP:AF:SS:ID   0.000228035:0.000238843:0.468899:0.0988442:361194:rs10157329
1   759837  rs3115851   T   A   .   PASS    AF=0.874635 ES:SE:LP:AF:SS:ID   -0.000246018:0.000208597:0.622984:0.874635:361194:rs3115851
1   761732  rs2286139   C   T   .   PASS    AF=0.864027 ES:SE:LP:AF:SS:ID   -0.000158045:0.00020456:0.356788:0.864027:361194:rs2286139
1   761752  rs1057213   C   T   .   PASS    AF=0.869425 ES:SE:LP:AF:SS:ID   -0.000260396:0.000206546:0.683166:0.869425:361194:rs1057213
1   762273  rs3115849   G   A   .   PASS    AF=0.866371 ES:SE:LP:AF:SS:ID   -0.000226893:0.000206588:0.565303:0.866371:361194:rs3115849
1   762485  rs12095200  C   A   .   PASS    AF=0.0987831    ES:SE:LP:AF:SS:ID   0.000345709:0.000247324:0.790016:0.0987831:361194:rs12095200
1   762589  rs3115848   G   C   .   PASS    AF=0.871556 ES:SE:LP:AF:SS:ID   -0.000245675:0.000208942:0.620381:0.871556:361194:rs3115848
1   762592  rs3131950   C   G   .   PASS    AF=0.871556 ES:SE:LP:AF:SS:ID   -0.000245673:0.000208942:0.620377:0.871556:361194:rs3131950
1   762601  rs3131949   T   C   .   PASS    AF=0.871555 ES:SE:LP:AF:SS:ID   -0.000245706:0.000208945:0.620475:0.871555:361194:rs3131949
1   762632  rs3131948   T   A   .   PASS    AF=0.871929 ES:SE:LP:AF:SS:ID   -0.000244733:0.000209065:0.616621:0.871929:361194:rs3131948
1   764191  rs7515915   T   G   .   PASS    AF=0.125562 ES:SE:LP:AF:SS:ID   0.000242943:0.00020923:0.609793:0.125562:361194:rs7515915
1   766007  rs61768174  A   C   .   PASS    AF=0.105428 ES:SE:LP:AF:SS:ID   0.000214324:0.000227775:0.460004:0.105428:361194:rs61768174
1   766105  rs2519015   T   A   .   PASS    AF=0.855376 ES:SE:LP:AF:SS:ID   -0.000204582:0.000204483:0.498833:0.855376:361194:rs2519015
1   768116  rs376645387 A   AGTTTT  .   PASS    AF=0.838358 ES:SE:LP:AF:SS:ID   -0.000133823:0.000201453:0.295416:0.838358:361194:rs376645387
1   768253  rs2977608   A   C   .   PASS    AF=0.763351 ES:SE:LP:AF:SS:ID   -0.000182013:0.000162132:0.582366:0.763351:361194:rs2977608
1   768448  rs12562034  G   A   .   PASS    AF=0.105921 ES:SE:LP:AF:SS:ID   0.000100124:0.000223378:0.184429:0.105921:361194:rs12562034
1   769138  rs59306077  CAT C   .   PASS    AF=0.128938 ES:SE:LP:AF:SS:ID   0.000231061:0.000206303:0.580523:0.128938:361194:rs762168062
1   769223  rs60320384  C   G   .   PASS    AF=0.128608 ES:SE:LP:AF:SS:ID   0.000224869:0.000206112:0.560236:0.128608:361194:rs60320384
1   769963  rs7518545   G   A   .   PASS    AF=0.105213 ES:SE:LP:AF:SS:ID   0.000130815:0.000225065:0.250971:0.105213:361194:rs7518545
1   770886  rs371458725 G   A   .   PASS    AF=0.104268 ES:SE:LP:AF:SS:ID   0.00014505:0.000226864:0.281844:0.104268:361194:rs371458725
1   771410  rs2519006   C   T   .   PASS    AF=0.830106 ES:SE:LP:AF:SS:ID   -0.00024703:0.000200832:0.660179:0.830106:361194:rs2519006
1   771823  rs2977605   T   C   .   PASS    AF=0.87012  ES:SE:LP:AF:SS:ID   -0.0002278:0.000205189:0.573627:0.87012:361194:rs2977605
1   771967  rs59066358  G   A   .   PASS    AF=0.128668 ES:SE:LP:AF:SS:ID   0.000214627:0.000206016:0.526506:0.128668:361194:rs59066358