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=ieu-a-1048,TotalVariants=6511238,VariantsNotRead=0,HarmonisedVariants=6511238,VariantsNotHarmonised=0,SwitchedAlleles=0,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/ieu-a-import/processed/ieu-a-1048/ieu-a-1048_data.json --ref /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/QC/genomes/b37/human_g1k_v37.fasta; 1.1.1",
    "file_date": "2020-02-04T08:33:11.720445",
    "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/ieu-a-import/processed/ieu-a-1048/ieu-a-1048.vcf.gz -O z /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ieu-a-import/processed/ieu-a-1048/ieu-a-1048_data.vcf.gz; Date=Tue Feb  4 17:04:28 2020",
    "bcftools_viewVersion": "1.9-74-g6af271c+htslib-1.9-64-g226b4a8",
    "bcftools_viewCommand": "view -h /mnt/storage/private/mrcieu/research/scratch/IGD/data/public/ieu-a-1048/ieu-a-1048.vcf.gz; Date=Sun May 10 05:08:55 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/ieu-a-import/processed/ieu-a-1048/ieu-a-1048.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/ieu-a-import/processed/ieu-a-1048/ldsc.txt \
--w-ld-chr /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/reference/eur_w_ld_chr/ 

Beginning analysis at Tue Feb  4 18:45:13 2020
Reading summary statistics from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ieu-a-import/processed/ieu-a-1048/ieu-a-1048.vcf.gz ...
Read summary statistics for 6511238 SNPs.
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, 1171045 SNPs remain.
After merging with regression SNP LD, 1171045 SNPs remain.
Using two-step estimator with cutoff at 30.
Total Observed scale h2: 0.1293 (0.0364)
Lambda GC: 1.0065
Mean Chi^2: 1.0151
Intercept: 0.9819 (0.0064)
Ratio < 0 (usually indicates GC correction).
Analysis finished at Tue Feb  4 18:46:21 2020
Total time elapsed: 1.0m:7.78s

QC metrics

Metrics

Metrics

{
    "af_correlation": 0.9427,
    "inflation_factor": 1.0009,
    "mean_EFFECT": -0.0309,
    "n": 13193,
    "n_snps": 6511238,
    "n_clumped_hits": 0,
    "n_p_sig": 0,
    "n_mono": 0,
    "n_ns": 0,
    "n_mac": 0,
    "is_snpid_unique": true,
    "n_miss_EFFECT": 0,
    "n_miss_SE": 0,
    "n_miss_PVAL": 0,
    "n_miss_AF": 0,
    "n_miss_AF_reference": 89300,
    "n_est": 12873.2989,
    "ratio_se_n": 0.9878,
    "mean_diff": 0.0308,
    "ratio_diff": 1927.5636,
    "sd_y_est1": 515.841,
    "sd_y_est2": 509.5526,
    "r2_sum1": 0,
    "r2_sum2": 0,
    "r2_sum3": 0,
    "r2_sum4": 0,
    "ldsc_nsnp_merge_refpanel_ld": 1171045,
    "ldsc_nsnp_merge_regression_ld": 1171045,
    "ldsc_observed_scale_h2_beta": 0.1293,
    "ldsc_observed_scale_h2_se": 0.0364,
    "ldsc_intercept_beta": 0.9819,
    "ldsc_intercept_se": 0.0064,
    "ldsc_lambda_gc": 1.0065,
    "ldsc_mean_chisq": 1.0151,
    "ldsc_ratio": -1.1987
}
 

Flags

name value
af_correlation FALSE
inflation_factor FALSE
n FALSE
is_snpid_non_unique FALSE
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 58 0 6511238 0 NA NA NA NA NA NA NA NA
character REF 0 1.0000000 1 1 0 4 0 NA NA NA NA NA NA NA NA
character ALT 0 1.0000000 1 1 0 4 0 NA NA NA NA NA NA NA NA
numeric CHROM 0 1.0000000 NA NA NA NA NA 8.614478e+00 5.742171e+00 1.0000000 4.000000e+00 8.000000e+00 1.300000e+01 2.200000e+01 ▇▅▅▂▂
numeric POS 0 1.0000000 NA NA NA NA NA 7.937479e+07 5.625253e+07 828.0000000 3.318087e+07 7.028770e+07 1.150848e+08 2.492178e+08 ▇▇▅▂▁
numeric EFFECT 0 1.0000000 NA NA NA NA NA -3.085040e-02 1.708285e+01 -271.3750000 -6.943300e+00 -4.120000e-02 6.924700e+00 2.158900e+02 ▁▁▇▁▁
numeric SE 0 1.0000000 NA NA NA NA NA 1.368507e+01 1.031092e+01 5.9779000 6.903600e+00 9.229900e+00 1.609447e+01 8.449190e+01 ▇▁▁▁▁
numeric PVAL 0 1.0000000 NA NA NA NA NA 4.994505e-01 2.891226e-01 0.0000002 2.484998e-01 4.997997e-01 7.499995e-01 1.000000e+00 ▇▇▇▇▇
numeric PVAL_ztest 0 1.0000000 NA NA NA NA NA 4.994505e-01 2.891226e-01 0.0000002 2.485425e-01 4.997968e-01 7.499664e-01 1.000000e+00 ▇▇▇▇▇
numeric AF 0 1.0000000 NA NA NA NA NA 2.602139e-01 2.612729e-01 0.0026390 4.485000e-02 1.596000e-01 4.129000e-01 9.986810e-01 ▇▂▂▁▁
numeric AF_reference 89300 0.9862853 NA NA NA NA NA 2.622586e-01 2.530074e-01 0.0000000 5.491210e-02 1.745210e-01 4.101440e-01 1.000000e+00 ▇▃▂▁▁
numeric N 0 1.0000000 NA NA NA NA NA 1.231343e+04 1.714998e+03 5590.0000000 1.258800e+04 1.319300e+04 1.319300e+04 1.319300e+04 ▁▁▁▁▇

Head and tail

CHROM POS ID REF ALT EFFECT SE PVAL PVAL_ztest AF AF_reference N
1 752566 rs3094315 G A -5.3735 8.5131 0.5279004 0.5279074 0.8364 0.718251 11718
1 752721 rs3131972 A G -6.4338 8.6827 0.4587003 0.4586991 0.8325 0.653355 11718
1 752894 rs3131971 T C -5.0888 9.1013 0.5761002 0.5760737 0.7955 0.753195 11718
1 753541 rs2073813 G A 4.3856 10.1128 0.6645000 0.6645294 0.1332 0.301917 11718
1 754182 rs3131969 A G -4.3974 10.1804 0.6658003 0.6657795 0.8668 0.678514 11718
1 754192 rs3131968 A G -4.4356 10.2432 0.6650005 0.6649939 0.8654 0.678514 11718
1 754334 rs3131967 T C -13.6949 11.8802 0.2489998 0.2490130 0.8377 0.684305 7278
1 754503 rs3115859 G A -6.5021 9.2378 0.4814997 0.4815212 0.8311 0.663938 11718
1 754964 rs3131966 C T -6.9762 9.8368 0.4782005 0.4782041 0.8074 0.663339 11168
1 755775 rs3131965 A G -13.7742 10.9476 0.2082999 0.2083218 0.7942 NA 8191
CHROM POS ID REF ALT EFFECT SE PVAL PVAL_ztest AF AF_reference N
22 51164115 rs5770996 C T 1.6987 6.6956 0.7997000 0.7997243 0.40770 0.5147760 11800
22 51164287 rs6009957 T C 3.2647 7.2393 0.6520006 0.6520119 0.28630 0.4155350 11800
22 51165390 rs76268556 C T -25.2636 33.5532 0.4515003 0.4514850 0.02507 0.0515176 6622
22 51165664 rs8137951 G A 3.1355 7.2118 0.6637003 0.6637268 0.28100 0.4063500 11800
22 51169045 rs8140772 C T -15.8899 29.5952 0.5913002 0.5913312 0.02770 0.0632987 7168
22 51171667 rs41281537 G A -17.2439 29.2375 0.5553004 0.5553334 0.02770 0.0577077 7443
22 51171693 rs756638 G A -0.7326 8.0817 0.9278001 0.9277713 0.25990 0.3049120 11056
22 51172460 rs5770824 T C -16.9921 29.3157 0.5622002 0.5621678 0.02770 0.0684904 7443
22 51175626 rs3810648 A G 15.1232 14.1206 0.2842000 0.2841682 0.05277 0.1084270 12060
22 51178090 rs2285395 G A 8.2950 14.6887 0.5723003 0.5722644 0.05145 0.0666933 12060

bcf preview

1   752566  rs3094315   G   A   .   PASS    AF=0.8364   ES:SE:LP:AF:SS:ID   -5.3735:8.5131:0.277448:0.8364:11718:rs3094315
1   752721  rs3131972   A   G   .   PASS    AF=0.8325   ES:SE:LP:AF:SS:ID   -6.4338:8.6827:0.338471:0.8325:11718:rs3131972
1   752894  rs3131971   T   C   .   PASS    AF=0.7955   ES:SE:LP:AF:SS:ID   -5.0888:9.1013:0.239502:0.7955:11718:rs3131971
1   753541  rs2073813   G   A   .   PASS    AF=0.1332   ES:SE:LP:AF:SS:ID   4.3856:10.1128:0.177505:0.1332:11718:rs2073813
1   754182  rs3131969   A   G   .   PASS    AF=0.8668   ES:SE:LP:AF:SS:ID   -4.3974:10.1804:0.176656:0.8668:11718:rs3131969
1   754192  rs3131968   A   G   .   PASS    AF=0.8654   ES:SE:LP:AF:SS:ID   -4.4356:10.2432:0.177178:0.8654:11718:rs3131968
1   754334  rs3131967   T   C   .   PASS    AF=0.8377   ES:SE:LP:AF:SS:ID   -13.6949:11.8802:0.603801:0.8377:7278:rs3131967
1   754503  rs3115859   G   A   .   PASS    AF=0.8311   ES:SE:LP:AF:SS:ID   -6.5021:9.2378:0.317404:0.8311:11718:rs3115859
1   754964  rs3131966   C   T   .   PASS    AF=0.8074   ES:SE:LP:AF:SS:ID   -6.9762:9.8368:0.32039:0.8074:11168:rs3131966
1   755775  rs3131965   A   G   .   PASS    AF=0.7942   ES:SE:LP:AF:SS:ID   -13.7742:10.9476:0.681311:0.7942:8191:rs3131965
1   756604  rs3131962   A   G   .   PASS    AF=0.8351   ES:SE:LP:AF:SS:ID   -9.8397:11.6338:0.400444:0.8351:7564:rs3131962
1   757640  rs3115853   G   A   .   PASS    AF=0.8668   ES:SE:LP:AF:SS:ID   -12.1873:11.7153:0.525492:0.8668:7759:rs3115853
1   757734  rs4951929   C   T   .   PASS    AF=0.8681   ES:SE:LP:AF:SS:ID   -11.6685:11.7318:0.494986:0.8681:7759:rs4951929
1   757936  rs4951862   C   A   .   PASS    AF=0.8668   ES:SE:LP:AF:SS:ID   -11.6187:11.7344:0.492009:0.8668:7759:rs4951862
1   758144  rs3131956   A   G   .   PASS    AF=0.8391   ES:SE:LP:AF:SS:ID   -8.5587:10.7244:0.371816:0.8391:9096:rs3131956
1   758626  rs3131954   C   T   .   PASS    AF=0.8641   ES:SE:LP:AF:SS:ID   -11.1112:12.0708:0.446967:0.8641:6892:rs3131954
1   768448  rs12562034  G   A   .   PASS    AF=0.09763  ES:SE:LP:AF:SS:ID   14.2593:12.0709:0.624336:0.09763:8814:rs12562034
1   769963  rs7518545   G   A   .   PASS    AF=0.09499  ES:SE:LP:AF:SS:ID   16.3139:12.7242:0.699405:0.09499:8814:rs7518545
1   798400  rs10900604  A   G   .   PASS    AF=0.2203   ES:SE:LP:AF:SS:ID   22.3289:10.159:1.55362:0.2203:7707:rs10900604
1   798959  rs11240777  G   A   .   PASS    AF=0.2269   ES:SE:LP:AF:SS:ID   21.6097:9.5682:1.62142:0.2269:7707:rs11240777
1   876499  rs4372192   A   G   .   PASS    AF=0.94987  ES:SE:LP:AF:SS:ID   -19.1111:18.35:0.526221:0.94987:8517:rs4372192
1   879676  rs6605067   G   A   .   PASS    AF=0.94987  ES:SE:LP:AF:SS:ID   -18.2474:18.0322:0.506403:0.94987:8517:rs6605067
1   879687  rs2839  T   C   .   PASS    AF=0.95119  ES:SE:LP:AF:SS:ID   -13.8704:17.9358:0.357239:0.95119:9067:rs2839
1   880238  rs3748592   A   G   .   PASS    AF=0.95251  ES:SE:LP:AF:SS:ID   -13.1926:17.9154:0.335828:0.95251:9067:rs3748592
1   882803  rs2340582   A   G   .   PASS    AF=0.95119  ES:SE:LP:AF:SS:ID   -12.4753:17.4864:0.322758:0.95119:9067:rs2340582
1   884815  rs4246503   A   G   .   PASS    AF=0.95119  ES:SE:LP:AF:SS:ID   -13.0263:16.997:0.353204:0.95119:9067:rs4246503
1   885676  rs4970377   C   A   .   PASS    AF=0.94327  ES:SE:LP:AF:SS:ID   -11.9181:16.5396:0.326795:0.94327:9067:rs4970377
1   885689  rs4970452   G   A   .   PASS    AF=0.94987  ES:SE:LP:AF:SS:ID   -12.8537:17.2184:0.341607:0.94987:9067:rs4970452
1   885699  rs4970376   A   G   .   PASS    AF=0.95119  ES:SE:LP:AF:SS:ID   -13.4361:16.9438:0.368759:0.95119:9067:rs4970376
1   886006  rs4970375   T   C   .   PASS    AF=0.95119  ES:SE:LP:AF:SS:ID   -13.1353:16.8407:0.361112:0.95119:9067:rs4970375
1   887801  rs3828047   A   G   .   PASS    AF=0.95119  ES:SE:LP:AF:SS:ID   -12.59:16.5974:0.348625:0.95119:9067:rs3828047
1   888639  rs3748596   T   C   .   PASS    AF=0.95119  ES:SE:LP:AF:SS:ID   -12.6793:16.5673:0.352519:0.95119:9067:rs3748596
1   888659  rs3748597   T   C   .   PASS    AF=0.95119  ES:SE:LP:AF:SS:ID   -12.8254:16.5335:0.358625:0.95119:9067:rs3748597
1   889238  rs3828049   G   A   .   PASS    AF=0.04749  ES:SE:LP:AF:SS:ID   12.7457:16.8398:0.347657:0.04749:9067:rs3828049
1   889713  rs13303051  C   A   .   PASS    AF=0.94063  ES:SE:LP:AF:SS:ID   -16.8287:15.8787:0.538802:0.94063:9067:rs13303051
1   891021  rs13302957  G   A   .   PASS    AF=0.94591  ES:SE:LP:AF:SS:ID   -12.4112:16.5539:0.343518:0.94591:9067:rs13302957
1   892745  rs13303227  G   A   .   PASS    AF=0.95119  ES:SE:LP:AF:SS:ID   -11.7258:16.8352:0.313274:0.95119:9067:rs13303227
1   893280  rs4970371   G   A   .   PASS    AF=0.95251  ES:SE:LP:AF:SS:ID   -11.9334:17.1403:0.313096:0.95251:9067:rs4970371
1   893631  rs6605069   A   G   .   PASS    AF=0.93931  ES:SE:LP:AF:SS:ID   -16.6581:16.2418:0.515558:0.93931:9067:rs6605069
1   893719  rs4970445   G   A   .   PASS    AF=0.92744  ES:SE:LP:AF:SS:ID   -21.7162:16.1008:0.751046:0.92744:8517:rs4970445
1   896476  rs28393498  A   G   .   PASS    AF=0.93536  ES:SE:LP:AF:SS:ID   -12.4983:16.9214:0.337148:0.93536:8517:rs28393498
1   897564  rs13303229  T   C   .   PASS    AF=0.94459  ES:SE:LP:AF:SS:ID   -23.5665:17.14:0.771856:0.94459:8517:rs13303229
1   897738  rs6696971   C   T   .   PASS    AF=0.05541  ES:SE:LP:AF:SS:ID   26.43:17.1375:0.910095:0.05541:8517:rs6696971
1   898323  rs6605071   T   C   .   PASS    AF=0.94723  ES:SE:LP:AF:SS:ID   -15.7153:17.9783:0.417937:0.94723:9067:rs6605071
1   898467  rs41285808  C   T   .   PASS    AF=0.04617  ES:SE:LP:AF:SS:ID   11.6652:18.0353:0.285838:0.04617:9067:rs41285808
1   913889  rs2340596   G   A   .   PASS    AF=0.6003   ES:SE:LP:AF:SS:ID   -3.7947:7.4918:0.212894:0.6003:10069:rs2340596
1   914940  rs13303033  T   C   .   PASS    AF=0.5858   ES:SE:LP:AF:SS:ID   -2.7993:7.2582:0.155088:0.5858:10069:rs13303033
1   916834  rs6694632   G   A   .   PASS    AF=0.5989   ES:SE:LP:AF:SS:ID   -2.5616:7.1741:0.142065:0.5989:10069:rs6694632
1   918384  rs13303118  G   T   .   PASS    AF=0.5871   ES:SE:LP:AF:SS:ID   -2.5421:7.055:0.143513:0.5871:10069:rs13303118
1   918573  rs2341354   A   G   .   PASS    AF=0.5963   ES:SE:LP:AF:SS:ID   -2.1201:7.0718:0.116736:0.5963:10069:rs2341354