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}
*********************************************************************
* 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-996/ieu-a-996.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-996/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 11:56:39 2020
Reading summary statistics from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ieu-a-import/processed/ieu-a-996/ieu-a-996.vcf.gz ...
Read summary statistics for 9965795 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, 1289604 SNPs remain.
After merging with regression SNP LD, 1289604 SNPs remain.
Using two-step estimator with cutoff at 30.
Total Observed scale h2: 0.0659 (0.0163)
Lambda GC: 1.0512
Mean Chi^2: 1.08
Intercept: 1.0284 (0.0066)
Ratio: 0.3555 (0.083)
Analysis finished at Tue Feb 4 11:58:04 2020
Total time elapsed: 1.0m:25.44s
{
"af_correlation": 0.946,
"inflation_factor": 1.0447,
"mean_EFFECT": 0.0057,
"n": 40835,
"n_snps": 9965795,
"n_clumped_hits": 12,
"n_p_sig": 721,
"n_mono": 0,
"n_ns": 0,
"n_mac": 3,
"is_snpid_unique": true,
"n_miss_EFFECT": 0,
"n_miss_SE": 0,
"n_miss_PVAL": 0,
"n_miss_AF": 0,
"n_miss_AF_reference": 290038,
"n_est": 36370.2006,
"ratio_se_n": 0.9437,
"mean_diff": -0.0038,
"ratio_diff": 14.8661,
"sd_y_est1": 2.8298,
"sd_y_est2": 2.6706,
"r2_sum1": 0.088,
"r2_sum2": 0.011,
"r2_sum3": 0.0123,
"r2_sum4": 0.014,
"ldsc_nsnp_merge_refpanel_ld": 1289604,
"ldsc_nsnp_merge_regression_ld": 1289604,
"ldsc_observed_scale_h2_beta": 0.0659,
"ldsc_observed_scale_h2_se": 0.0163,
"ldsc_intercept_beta": 1.0284,
"ldsc_intercept_se": 0.0066,
"ldsc_lambda_gc": 1.0512,
"ldsc_mean_chisq": 1.08,
"ldsc_ratio": 0.355
}
name | value |
---|---|
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 |
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 SNPsn_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:
A, C, G or T
.< 0
or > 1
.<= 0
or = Infinity
).< 0
or > 1
.n_mac
: Number of cases where MAC
(2×N×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, ˆn.ratio_se_n
: ratio_se_n=√ˆn√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
: mean_diff=∑j^βstdj−βjn_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.
ratio_diff
: ratio_diff=|mean_diffmean_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.
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.
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.
r2 metrics
Sum of variance explained, calculated from the clumped top hits sample.
r2_sum<*>
: r2
statistics under various assumptions
1
: r2=∑j2×β2j×MAFj×(1−MAFj)var1, var1=1.2
: r2=∑j2×β2j×MAFj×(1−MAFj)var2, var2=^sd1y2,3
: r2=∑j2×β2j×MAFj×(1−MAFj)var3, var3=^sd2y2,4
: r2=∑jFjFj+n−2, F=β2jse2j.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 χ2 statistics.ldsc_ratio
: ldsc_intercept_beta−1ldsc_mean_chisq−1, the proportion of the inflation in the mean χ2 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 h2 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
> 0.5ldsc_intercept_beta
: ldsc_intercept_beta
> 1.5n_clumped_hits
: n_clumped_hits
> 1000r2_sum<*>
: r2_sum<*>
> 0.5Plots
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | 59 | 0 | 9965793 | 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 | 8.680186e+00 | 5.777235e+00 | 1.0000000 | 4.000000e+00 | 8.000000e+00 | 1.300000e+01 | 2.300000e+01 | ▇▅▅▂▂ |
numeric | POS | 0 | 1.0000000 | NA | NA | NA | NA | NA | 7.866053e+07 | 5.642987e+07 | 828.0000000 | 3.236759e+07 | 6.916933e+07 | 1.144637e+08 | 2.492297e+08 | ▇▆▅▂▁ |
numeric | EFFECT | 0 | 1.0000000 | NA | NA | NA | NA | NA | 5.689100e-03 | 4.453580e-01 | -261.1540000 | -2.217400e-02 | 2.462000e-03 | 3.015670e-02 | 3.052700e+01 | ▁▁▁▁▇ |
numeric | SE | 0 | 1.0000000 | NA | NA | NA | NA | NA | 9.575830e-02 | 6.248778e-01 | 0.0164146 | 2.041670e-02 | 3.455590e-02 | 8.772550e-02 | 3.368330e+02 | ▇▁▁▁▁ |
numeric | PVAL | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.928946e-01 | 2.910629e-01 | 0.0000000 | 2.391509e-01 | 4.905745e-01 | 7.453684e-01 | 1.000000e+00 | ▇▇▇▇▇ |
numeric | PVAL_ztest | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.928945e-01 | 2.910637e-01 | 0.0000000 | 2.391717e-01 | 4.905587e-01 | 7.453610e-01 | 1.000000e+00 | ▇▇▇▇▇ |
numeric | AF | 0 | 1.0000000 | NA | NA | NA | NA | NA | 2.094925e-01 | 2.425788e-01 | 0.0003190 | 2.124400e-02 | 9.259300e-02 | 3.358830e-01 | 9.952650e-01 | ▇▂▁▁▁ |
numeric | AF_reference | 290038 | 0.9708967 | NA | NA | NA | NA | NA | 2.195667e-01 | 2.526678e-01 | 0.0000000 | 1.837060e-02 | 1.140180e-01 | 3.428510e-01 | 1.000000e+00 | ▇▂▁▁▁ |
numeric | N | 0 | 1.0000000 | NA | NA | NA | NA | NA | 3.020600e+04 | 1.335767e+04 | 304.0000000 | 2.787800e+04 | 3.486700e+04 | 4.053000e+04 | 4.083500e+04 | ▂▁▁▁▇ |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
1 | 55164 | rs3091274 | C | A | 0.0639668 | 0.349420 | 0.8547311 | 0.8547465 | 0.957143 | 0.9233230 | 856 |
1 | 55299 | rs10399749 | C | T | -0.0022154 | 0.190480 | 0.9907160 | 0.9907201 | 0.182289 | NA | 856 |
1 | 55326 | rs3107975 | T | C | 0.3412300 | 0.316440 | 0.2808640 | 0.2808819 | 0.035449 | 0.0459265 | 856 |
1 | 55394 | rs2949420 | T | A | -0.4503410 | 0.528760 | 0.3943846 | 0.3943847 | 0.014356 | NA | 856 |
1 | 55850 | rs191890754 | C | G | 0.0739417 | 0.294474 | 0.8017331 | 0.8017387 | 0.012673 | NA | 3470 |
1 | 66176 | rs28552463 | T | A | -1.1014000 | 0.634620 | 0.0826514 | 0.0826475 | 0.011975 | NA | 856 |
1 | 66219 | rs181028663 | A | T | 1.1094000 | 0.749560 | 0.1388430 | 0.1388550 | 0.010238 | 0.0203674 | 856 |
1 | 77961 | rs78385339 | G | A | 0.5305700 | 0.290820 | 0.0681020 | 0.0680927 | 0.067717 | NA | 856 |
1 | 84002 | rs28850140 | G | A | -0.0452317 | 0.104808 | 0.6660733 | 0.6660560 | 0.173270 | NA | 3470 |
1 | 85063 | rs187802690 | T | C | -0.3224700 | 0.427930 | 0.4511241 | 0.4511148 | 0.030280 | NA | 856 |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
22 | 51224635 | rs143053851 | G | A | 0.1886580 | 0.1567970 | 0.2288790 | 0.2288993 | 0.043084 | NA | 4945 |
22 | 51224718 | rs189454695 | T | G | 0.0444723 | 0.0765311 | 0.5611927 | 0.5611724 | 0.135809 | NA | 7883 |
22 | 51227891 | rs6010091 | G | A | -0.0040492 | 0.0354251 | 0.9089709 | 0.9089977 | 0.372510 | 0.4039540 | 15798 |
22 | 51229805 | rs9616985 | T | C | -0.0257292 | 0.0621591 | 0.6789488 | 0.6789291 | 0.079470 | 0.0730831 | 15798 |
22 | 51229855 | rs144549712 | G | A | -0.0438631 | 0.0815574 | 0.5907232 | 0.5907022 | 0.093923 | 0.1160140 | 9087 |
22 | 51234799 | rs191117135 | G | A | 0.1813100 | 0.6048700 | 0.7643706 | 0.7643676 | 0.010701 | 0.0059904 | 1307 |
22 | 51237063 | rs3896457 | T | C | 0.0115154 | 0.0450824 | 0.7983840 | 0.7983910 | 0.249514 | 0.2050720 | 12763 |
22 | 51238249 | rs149733995 | A | C | -0.0717990 | 0.0819438 | 0.3809211 | 0.3809224 | 0.072168 | NA | 10394 |
23 | 50040891 | rs192267219 | C | T | -0.1058840 | 0.1732570 | 0.5411292 | 0.5411080 | 0.977139 | 0.0222517 | 6754 |
23 | 100784211 | rs188350543 | C | A | 0.0084324 | 0.0283846 | 0.7664115 | 0.7664067 | 0.739636 | 0.6498010 | 20007 |
1 55164 rs3091274 C A . PASS AF=0.957143 ES:SE:LP:AF:SS:ID 0.0639668:0.34942:0.0681705:0.957143:856:rs3091274
1 55299 rs10399749 C T . PASS AF=0.182289 ES:SE:LP:AF:SS:ID -0.00221545:0.19048:0.00405082:0.182289:856:rs10399749
1 55326 rs3107975 T C . PASS AF=0.035449 ES:SE:LP:AF:SS:ID 0.34123:0.31644:0.551504:0.035449:856:rs3107975
1 55394 rs2949420 T A . PASS AF=0.014356 ES:SE:LP:AF:SS:ID -0.450341:0.52876:0.40408:0.014356:856:rs2949420
1 55850 rs191890754 C G . PASS AF=0.012673 ES:SE:LP:AF:SS:ID 0.0739417:0.294474:0.0959702:0.012673:3470:rs191890754
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1 66219 rs181028663 A T . PASS AF=0.010238 ES:SE:LP:AF:SS:ID 1.1094:0.74956:0.857476:0.010238:856:rs181028663
1 77961 rs78385339 G A . PASS AF=0.067717 ES:SE:LP:AF:SS:ID 0.53057:0.29082:1.16684:0.067717:856:rs78385339
1 84002 rs28850140 G A . PASS AF=0.17327 ES:SE:LP:AF:SS:ID -0.0452317:0.104808:0.176478:0.17327:3470:rs28850140
1 85063 rs187802690 T C . PASS AF=0.03028 ES:SE:LP:AF:SS:ID -0.32247:0.42793:0.345704:0.03028:856:rs187802690
1 87021 rs188486692 T C . PASS AF=0.027216 ES:SE:LP:AF:SS:ID -0.0527343:0.223121:0.0898256:0.027216:3470:rs188486692
1 99687 rs139153227 C T . PASS AF=0.056542 ES:SE:LP:AF:SS:ID -0.0736552:0.180382:0.165548:0.056542:3470:rs139153227
1 115746 rs147538909 C T . PASS AF=0.040325 ES:SE:LP:AF:SS:ID -0.948019:0.383749:1.86915:0.040325:856:rs147538909
1 120705 rs4117992 T C . PASS AF=0.957408 ES:SE:LP:AF:SS:ID -0.10109:0.34124:0.115177:0.957408:856:rs4117992
1 126113 rs79114531 C A . PASS AF=0.986805 ES:SE:LP:AF:SS:ID -0.20747:0.53256:0.156848:0.986805:856:rs79114531
1 135203 rs147502335 G A . PASS AF=0.034675 ES:SE:LP:AF:SS:ID -0.311631:0.40406:0.355987:0.034675:856:rs147502335
1 168373 rs183198872 C T . PASS AF=0.044838 ES:SE:LP:AF:SS:ID -0.0400327:0.165975:0.0918384:0.044838:4326:rs183198872
1 168964 rs187450123 A G . PASS AF=0.02437 ES:SE:LP:AF:SS:ID -0.264559:0.49346:0.227759:0.02437:856:rs187450123
1 230433 rs190807317 T C . PASS AF=0.010111 ES:SE:LP:AF:SS:ID -1.5508:0.737781:1.44886:0.010111:856:rs190807317
1 249276 rs115018998 T C . PASS AF=0.010143 ES:SE:LP:AF:SS:ID 0.0425047:0.49841:0.0305762:0.010143:2511:rs115018998
1 526057 rs141459107 T C . PASS AF=0.012903 ES:SE:LP:AF:SS:ID -0.398191:0.59215:0.299889:0.012903:1307:rs141459107
1 526970 rs60791385 T C . PASS AF=0.012306 ES:SE:LP:AF:SS:ID 1.389:0.68542:1.36925:0.012306:856:rs60791385
1 527186 rs111227194 A G . PASS AF=0.017086 ES:SE:LP:AF:SS:ID -1.0201:0.797502:0.697161:0.017086:1631:rs111227194
1 527207 rs112901516 A G . PASS AF=0.015506 ES:SE:LP:AF:SS:ID -1.5205:0.985749:0.910275:0.015506:1631:rs112901516
1 533198 rs78497331 C T . PASS AF=0.041151 ES:SE:LP:AF:SS:ID -0.305001:0.38631:0.36672:0.041151:856:rs78497331
1 540975 rs80246094 G A . PASS AF=0.087192 ES:SE:LP:AF:SS:ID -0.3509:0.26254:0.741487:0.087192:856:rs80246094
1 600478 rs114979547 G A . PASS AF=0.089717 ES:SE:LP:AF:SS:ID -0.14461:0.25903:0.239066:0.089717:856:rs114979547
1 601141 rs140845213 C T . PASS AF=0.098554 ES:SE:LP:AF:SS:ID 0.0239499:0.25132:0.0343008:0.098554:856:rs140845213
1 603331 rs186375515 T C . PASS AF=0.012097 ES:SE:LP:AF:SS:ID -0.6185:0.63673:0.479709:0.012097:612:rs186375515
1 645605 rs185127847 T A . PASS AF=0.04293 ES:SE:LP:AF:SS:ID 0.384977:0.193064:1.33568:0.04293:3367:rs185127847
1 662622 rs61769339 G A . PASS AF=0.113796 ES:SE:LP:AF:SS:ID -0.0156072:0.0613263:0.0973934:0.113796:11006:rs61769339
1 676127 rs150820983 C T . PASS AF=0.022678 ES:SE:LP:AF:SS:ID -0.221676:0.309322:0.324586:0.022678:3130:rs150820983
1 693625 rs190214723 T C . PASS AF=0.040483 ES:SE:LP:AF:SS:ID -0.0839241:0.192287:0.178795:0.040483:3986:rs190214723
1 701835 rs189800799 T C . PASS AF=0.025763 ES:SE:LP:AF:SS:ID 0.0267917:0.220697:0.0441401:0.025763:5713:rs189800799
1 704637 rs142559957 G A . PASS AF=0.074505 ES:SE:LP:AF:SS:ID 0.0560353:0.1253:0.183926:0.074505:3470:rs142559957
1 705882 rs72631875 G A . PASS AF=0.069887 ES:SE:LP:AF:SS:ID 0.0605512:0.161448:0.150191:0.069887:3718:rs72631875
1 712871 rs4311830 T C . PASS AF=0.019615 ES:SE:LP:AF:SS:ID -0.366245:0.418651:0.418313:0.019615:1475:rs4311830
1 712930 rs28457007 T C . PASS AF=0.02637 ES:SE:LP:AF:SS:ID -0.0505144:0.21307:0.090128:0.02637:5713:rs28457007
1 714019 rs114983708 A G . PASS AF=0.043374 ES:SE:LP:AF:SS:ID 0.0443144:0.2953:0.0551745:0.043374:856:rs114983708
1 714310 rs141232927 C G . PASS AF=0.018196 ES:SE:LP:AF:SS:ID -0.155718:0.286041:0.231959:0.018196:5025:rs141232927
1 714427 rs12028261 G A . PASS AF=0.981626 ES:SE:LP:AF:SS:ID 0.40101:0.54061:0.338912:0.981626:856:rs12028261
1 714596 rs149887893 T C . PASS AF=0.027038 ES:SE:LP:AF:SS:ID 0.0747731:0.248051:0.117429:0.027038:4406:rs149887893
1 715265 rs12184267 C T . PASS AF=0.039114 ES:SE:LP:AF:SS:ID -0.0342613:0.138819:0.0941734:0.039114:6332:rs12184267
1 715367 rs12184277 A G . PASS AF=0.035262 ES:SE:LP:AF:SS:ID 0.0450748:0.159398:0.109387:0.035262:5713:rs12184277
1 716041 rs149301622 G A . PASS AF=0.034258 ES:SE:LP:AF:SS:ID 0.0376271:0.162721:0.087712:0.034258:5713:rs149301622
1 717485 rs12184279 C A . PASS AF=0.033217 ES:SE:LP:AF:SS:ID 0.0347581:0.165261:0.0791434:0.033217:5713:rs12184279
1 718505 rs181440659 G A . PASS AF=0.013199 ES:SE:LP:AF:SS:ID -0.126922:0.321661:0.159162:0.013199:3986:rs181440659
1 719914 rs187772768 C G . PASS AF=0.039751 ES:SE:LP:AF:SS:ID 0.0239311:0.139263:0.0637145:0.039751:5713:rs187772768
1 720381 rs116801199 G T . PASS AF=0.040785 ES:SE:LP:AF:SS:ID 0.00487888:0.135256:0.0126855:0.040785:5713:rs116801199
1 721290 rs12565286 G C . PASS AF=0.042801 ES:SE:LP:AF:SS:ID 0.0069944:0.127792:0.0193909:0.042801:5713:rs12565286