Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

cis-eQTL summary statistics application #18

Open
gaow opened this issue Feb 8, 2022 · 2 comments
Open

cis-eQTL summary statistics application #18

gaow opened this issue Feb 8, 2022 · 2 comments

Comments

@gaow
Copy link

gaow commented Feb 8, 2022

I wonder what people would suggest for storing eg cis-eQTL data, when a variant is in cis with multiple genes. I'm thinking of using INFO to annotate the cis-gene for a variant so there could be multiple lines having the same chr, pos, ref, alt but different INFO on gene, and possibly a different ID as a result of including cis-gene names. Is that the best thing to do?

@hsun3163
Copy link

hsun3163 commented Apr 8, 2022

One way of solving this issue I think is to put the GENE as a prefix of the ID, i.e. GENE:CHR:POS:REF:ALT. bcftools have a option to merge multiple vcf file by their ID. As indicated below, bcftools merge -m id test_merged_1.vcf.gz test_merged_2.vcf.gz produce a vcf output that is a full joint of the two individual GWAS_VCF while merging only the rows that corresponding to the same genes.

##fileformat=VCFv4.2
##FILTER=<ID=PASS,Description="All filters passed">
##fileDate=20220403
##FORMAT=<ID=STAT,Number=1,Type=Float,Description="Effect size estimate relative to the alternative allele">
##FORMAT=<ID=SE,Number=1,Type=Float,Description="Standard error of effect size estimate">
##FORMAT=<ID=P,Number=1,Type=Float,Description="The Pvalue corresponding to ES">
##INFO=<ID=GENE,Number=1,Type=String,Description="The name of genes">
##FORMAT=<ID=TSS_D,Number=1,Type=Integer,Description="Customized Field TSS_D">
##FORMAT=<ID=AF,Number=1,Type=Float,Description="Customized Field AF">
##FORMAT=<ID=MA_SAMPLES,Number=1,Type=Integer,Description="Customized Field MA_SAMPLES">
##FORMAT=<ID=MA_COUNT,Number=1,Type=Integer,Description="Customized Field MA_COUNT">
##FORMAT=<ID=GENE.1,Number=1,Type=Str,Description="Customized Field GENE.1">
##contig=<ID=17>
##bcftools_mergeVersion=1.14+htslib-1.14
##bcftools_mergeCommand=merge -m id test_merged_1.vcf.gz test_merged_2.vcf.gz; Date=Fri Apr  8 15:27:25 2022
#CHROM  POS     ID      REF     ALT     QUAL    FILTER  INFO    FORMAT  ALL     Ast
17      150509  TIMM22:chr17:150509_T_TA        T       TA      .       PASS    GENE=TIMM22     STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                           .:.:.:.:.:.:.:.  -0.0403918:0.0808863:0.617858:-846620:0.185542:135:154:TIMM22
17      150509  NXN:chr17:150509_T_TA   T       TA      .       PASS    GENE=NXN        STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                                   .:.:.:.:.:.:.:.  -0.00313498:0.0608204:0.958923:-829267:0.185542:135:154:NXN
17      150509  GLOD4:chr17:150509_T_TA T       TA      .       PASS    GENE=GLOD4      STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                                   .:.:.:.:.:.:.:.  0.125392:0.0864899:0.148077:-632881:0.185542:135:154:GLOD4
17      150509  TLCD3A:chr17:150509_T_TA        T       TA      .       PASS    GENE=TLCD3A     STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                           0.023213:0.05232:0.657572:-581903:0.185542:135:154:TLCD3A        0.00764352:0.0869836:0.930031:-581903:0.185542:135:154:TLCD3A
17      150509  VPS53:chr17:150509_T_TA T       TA      .       PASS    GENE=VPS53      STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                                   -0.0357983:0.0440621:0.417124:-571208:0.185542:135:154:VPS53     -0.042744:0.0633347:0.500221:-571208:0.185542:135:154:VPS53
17      150509  AC015853.3:chr17:150509_T_TA    T       TA      .       PASS    GENE=AC015853.3 STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                           0.000276494:0.0194655:0.988676:-372631:0.185542:135:154:AC015853.3       -0.0919213:0.0498577:0.0661356:-372631:0.185542:135:154:AC015853.3
17      150509  C17orf97:chr17:150509_T_TA      T       TA      .       PASS    GENE=C17orf97   STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                           0.0382362:0.0830526:0.645546:-259816:0.185542:135:154:C17orf97   0.0209041:0.0825456:0.80024:-259816:0.185542:135:154:C17orf97
17      150509  RPH3AL:chr17:150509_T_TA        T       TA      .       PASS    GENE=RPH3AL     STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                           0.200842:0.0699569:0.00435926:-235745:0.185542:135:154:RPH3AL    0.0131605:0.0674609:0.845449:-235745:0.185542:135:154:RPH3AL
17      150509  RFLNB:chr17:150509_T_TA T       TA      .       PASS    GENE=RFLNB      STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                                   0.160758:0.0631347:0.0113462:-295430:0.185542:135:154:RFLNB      .:.:.:.:.:.:.:.
17      150509  DOC2B:chr17:150509_T_TA T       TA      .       PASS    GENE=DOC2B      STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                                   0.35281:0.0581579:3.61441e-09:-31141:0.185542:135:154:DOC2B      .:.:.:.:.:.:.:.
17      151035  TIMM22:chr17:151035_T_C T       C       .       PASS    GENE=TIMM22     STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                                   .:.:.:.:.:.:.:.  -0.0264652:0.0814339:0.745396:-846094:0.185542:136:154:TIMM22
17      151035  NXN:chr17:151035_T_C    T       C       .       PASS    GENE=NXN        STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                                   .:.:.:.:.:.:.:.  0.00640265:0.061218:0.916767:-828741:0.185542:136:154:NXN
17      151035  GLOD4:chr17:151035_T_C  T       C       .       PASS    GENE=GLOD4      STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                                   .:.:.:.:.:.:.:.  0.124873:0.0870623:0.152445:-632355:0.185542:136:154:GLOD4
17      151035  TLCD3A:chr17:151035_T_C T       C       .       PASS    GENE=TLCD3A     STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                                   .:.:.:.:.:.:.:.  0.0116473:0.087552:0.894249:-581377:0.185542:136:154:TLCD3A
17      151035  VPS53:chr17:151035_T_C  T       C       .       PASS    GENE=VPS53      STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                                   .:.:.:.:.:.:.:.  -0.0225716:0.0637816:0.72365:-570682:0.185542:136:154:VPS53
17      151035  AC015853.3:chr17:151035_T_C     T       C       .       PASS    GENE=AC015853.3 STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                           .:.:.:.:.:.:.:.  -0.0864778:0.0502172:0.0860018:-372105:0.185542:136:154:AC015853.3
17      151035  C17orf97:chr17:151035_T_C       T       C       .       PASS    GENE=C17orf97   STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                           .:.:.:.:.:.:.:.  0.0104071:0.0830924:0.900404:-259290:0.185542:136:154:C17orf97
17      151035  RPH3AL:chr17:151035_T_C T       C       .       PASS    GENE=RPH3AL     STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                                   .:.:.:.:.:.:.:.  0.00852512:0.067905:0.900169:-235219:0.185542:136:154:RPH3AL
17      151041  RPH3AL:chr17:151041_G_A G       A       .       PASS    GENE=RPH3AL     STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                                   .:.:.:.:.:.:.:.  -0.0366692:0.0726522:0.614093:-235213:0.139759:102:116:RPH3AL

Putting Gene information in any other field will results in a mismatched in the output of bcftools merge as indicated below:

##fileformat=VCFv4.2
##FILTER=<ID=PASS,Description="All filters passed">
##fileDate=20220403
##FORMAT=<ID=STAT,Number=1,Type=Float,Description="Effect size estimate relative to the alternative allele">
##FORMAT=<ID=SE,Number=1,Type=Float,Description="Standard error of effect size estimate">
##FORMAT=<ID=P,Number=1,Type=Float,Description="The Pvalue corresponding to ES">
##INFO=<ID=GENE,Number=1,Type=String,Description="The name of genes">
##FORMAT=<ID=TSS_D,Number=1,Type=Integer,Description="Customized Field TSS_D">
##FORMAT=<ID=AF,Number=1,Type=Float,Description="Customized Field AF">
##FORMAT=<ID=MA_SAMPLES,Number=1,Type=Integer,Description="Customized Field MA_SAMPLES">
##FORMAT=<ID=MA_COUNT,Number=1,Type=Integer,Description="Customized Field MA_COUNT">
##FORMAT=<ID=GENE.1,Number=1,Type=Str,Description="Customized Field GENE.1">
##contig=<ID=17>
##bcftools_mergeVersion=1.14+htslib-1.14
##bcftools_mergeCommand=merge --force-samples -Oz -o ...
#CHROM  POS     ID      REF     ALT     QUAL    FILTER  INFO    FORMAT  ALL     Ast     End     Exc     Inh     Mic    OPC                                              Oli
17      150509  chr17:150509_T_TA       T       TA      .       PASS    GENE=DOC2B      STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                                   0.35281:0.0581579:3.61441e-09:-31141:0.185542:135:154:DOC2B      0.0131605:0.0674609:0.845449:-235745:0.185542:135:154:RPH3AL                                            0.0905314:0.0607519:0.13737:-829267:0.1875:115:132:NXN   0.322654:0.0587057:7.82572e-08:-31141:0.185542:135:154:DOC2B   0.153654:0.0796014:0.0544352:-31141:0.185542:135:154:DOC2B        -0.156104:0.0762654:0.0414716:-571208:0.185542:135:154:VPS53    0.0973946:0.0790666:0.21891:-571208:0.18599:135:154:VPS53                               -0.0872876:0.0596222:0.144151:-372631:0.185542:135:154:AC015853.3
17      150509  chr17:150509_T_TA       T       TA      .       PASS    GENE=RPH3AL     STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                                   0.200842:0.0699569:0.00435926:-235745:0.185542:135:154:RPH3AL    0.0209041:0.0825456:0.80024:-259816:0.185542:135:154:C17orf97                                           .:.:.:.:.:.:.:.  0.235547:0.0733648:0.00145601:-235745:0.185542:135:154:RPH3AL   0.0191817:0.0589475:0.745083:-235745:0.185542:135:154:RPH3AL                            0.260086:0.0898613:0.00405531:-632881:0.185542:135:154:GLOD4     0.120468:0.0867618:0.165937:-632881:0.18599:135:154:GLOD4                                               0.0146486:0.0665047:0.825803:-571208:0.185542:135:154:VPS53
17      150509  chr17:150509_T_TA       T       TA      .       PASS    GENE=C17orf97   STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                                   0.0382362:0.0830526:0.645546:-259816:0.185542:135:154:C17orf97   -0.0919213:0.0498577:0.0661356:-372631:0.185542:135:154:AC015853.3                                      .:.:.:.:.:.:.:.  0.0701672:0.0804215:0.383579:-259816:0.185542:135:154:C17orf97  0.00290266:0.0797265:0.970979:-259816:0.185542:135:154:C17orf97                         -0.0103012:0.0601909:0.864218:-829267:0.185542:135:154:NXN       0.131247:0.0792178:0.0985242:-829267:0.18599:135:154:NXN                                                0.064894:0.079988:0.417786:-632881:0.185542:135:154:GLOD4
17      150509  chr17:150509_T_TA       T       TA      .       PASS    GENE=RFLNB      STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                                   0.160758:0.0631347:0.0113462:-295430:0.185542:135:154:RFLNB      -0.042744:0.0633347:0.500221:-571208:0.185542:135:154:VPS53                                             .:.:.:.:.:.:.:.  0.185963:0.0617426:0.00279845:-295430:0.185542:135:154:RFLNB    0.0395762:0.0348068:0.256361:-372631:0.185542:135:154:AC015853.3                        .:.:.:.:.:.:.:.  .:.:.:.:.:.:.:. -0.0420404:0.0807668:0.603056:-846620:0.185542:135:154:TIMM22
17      150509  chr17:150509_T_TA       T       TA      .       PASS    GENE=AC015853.3 STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                                   0.000276494:0.0194655:0.988676:-372631:0.185542:135:154:AC015853.3       0.00764352:0.0869836:0.930031:-581903:0.185542:135:154:TLCD3A                                   .:.:.:.:.:.:.:.  -0.00795924:0.018865:0.673372:-372631:0.185542:135:154:AC015853.3       0.0414476:0.0453474:0.361389:-571208:0.185542:135:154:VPS53                     .:.:.:.:.:.:.:.  .:.:.:.:.:.:.:. .:.:.:.:.:.:.:.
17      150509  chr17:150509_T_TA       T       TA      .       PASS    GENE=VPS53      STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                                   -0.0357983:0.0440621:0.417124:-571208:0.185542:135:154:VPS53     0.125392:0.0864899:0.148077:-632881:0.185542:135:154:GLOD4                                              .:.:.:.:.:.:.:.  -0.0278407:0.0433261:0.520943:-571208:0.185542:135:154:VPS53    0.0240009:0.0733747:0.743801:-581903:0.185542:135:154:TLCD3A                            .:.:.:.:.:.:.:.  .:.:.:.:.:.:.:. .:.:.:.:.:.:.:.
17      150509  chr17:150509_T_TA       T       TA      .       PASS    GENE=TLCD3A     STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                                   0.023213:0.05232:0.657572:-581903:0.185542:135:154:TLCD3A        -0.00313498:0.0608204:0.958923:-829267:0.185542:135:154:NXN                                             .:.:.:.:.:.:.:.  -0.0864781:0.0537734:0.108758:-631943:0.185542:135:154:MRM3     0.0517935:0.0633322:0.414063:-632881:0.185542:135:154:GLOD4                             .:.:.:.:.:.:.:.  .:.:.:.:.:.:.:. .:.:.:.:.:.:.:.
17      150509  chr17:150509_T_TA       T       TA      .       PASS    GENE=MRM3       STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                                   -0.0816996:0.0554548:0.141642:-631943:0.185542:135:154:MRM3      -0.0403918:0.0808863:0.617858:-846620:0.185542:135:154:TIMM22                                           .:.:.:.:.:.:.:.  0.00650789:0.0335411:0.846275:-632881:0.185542:135:154:GLOD4    -0.0678543:0.0538887:0.208872:-829267:0.185542:135:154:NXN                              .:.:.:.:.:.:.:.  .:.:.:.:.:.:.:. .:.:.:.:.:.:.:.
17      150509  chr17:150509_T_TA       T       TA      .       PASS    GENE=GLOD4      STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                                   0.0432869:0.0345032:0.210529:-632881:0.185542:135:154:GLOD4      .:.:.:.:.:.:.:. .:.:.:.:.:.:.:. 0.144339:0.0534027:0.00723412:-829267:0.185542:135:154:NXN              0.106378:0.0667829:0.11215:-846620:0.185542:135:154:TIMM22       .:.:.:.:.:.:.:. .:.:.:.:.:.:.:. .:.:.:.:.:.:.:.
17      150509  chr17:150509_T_TA       T       TA      .       PASS    GENE=NXN        STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                                   0.0910669:0.0497962:0.0683413:-829267:0.185542:135:154:NXN       .:.:.:.:.:.:.:. .:.:.:.:.:.:.:. -0.00372898:0.0390022:0.923889:-846620:0.185542:135:154:TIMM22          .:.:.:.:.:.:.:.  .:.:.:.:.:.:.:. .:.:.:.:.:.:.:. .:.:.:.:.:.:.:.
17      150509  chr17:150509_T_TA       T       TA      .       PASS    GENE=TIMM22     STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                                   0.00968499:0.0394625:0.806283:-846620:0.185542:135:154:TIMM22    .:.:.:.:.:.:.:. .:.:.:.:.:.:.:. .:.:.:.:.:.:.:. .:.:.:.:.:.:.:.                                         .:.:.:.:.:.:.:.  .:.:.:.:.:.:.:. .:.:.:.:.:.:.:.
17      151035  chr17:151035_T_C        T       C       .       PASS    GENE=DOC2B      STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                                   0.359382:0.0587111:2.65771e-09:-30615:0.185542:136:154:DOC2B     0.00852512:0.067905:0.900169:-235219:0.185542:136:154:RPH3AL                                            0.084474:0.0614837:0.17063:-828741:0.1875:116:132:NXN    0.32539:0.0592411:7.96847e-08:-30615:0.185542:136:154:DOC2B    0.152857:0.080282:0.0577878:-30615:0.185542:136:154:DOC2B -0.143983:0.0776253:0.0645175:-570682:0.185542:136:154:VPS53    0.0609647:0.0797857:0.445357:-570682:0.18599:136:154:VPS53                                      -0.0699054:0.0601662:0.246135:-372105:0.185542:136:154:AC015853.3
17      151035  chr17:151035_T_C        T       C       .       PASS    GENE=RPH3AL     STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                                   0.216399:0.0705649:0.00234519:-235219:0.185542:136:154:RPH3AL    0.0104071:0.0830924:0.900404:-259290:0.185542:136:154:C17orf97                                          .:.:.:.:.:.:.:.  0.247441:0.0739322:0.000912516:-235219:0.185542:136:154:RPH3AL  0.0342429:0.0594218:0.56483:-235219:0.185542:136:154:RPH3AL                             0.252591:0.0914626:0.00607526:-632355:0.185542:136:154:GLOD4     0.0966792:0.0875205:0.270128:-632355:0.18599:136:154:GLOD4                                              0.0427744:0.0669938:0.523607:-570682:0.185542:136:154:VPS53
17      151035  chr17:151035_T_C        T       C       .       PASS    GENE=C17orf97   STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                                   0.0256586:0.0839348:0.76003:-259290:0.185542:136:154:C17orf97    -0.0864778:0.0502172:0.0860018:-372105:0.185542:136:154:AC015853.3                                      .:.:.:.:.:.:.:.  0.0577114:0.0811823:0.477662:-259290:0.185542:136:154:C17orf97  -0.011526:0.0803935:0.886087:-259290:0.185542:136:154:C17orf97                          -0.00847095:0.0611958:0.889991:-828741:0.185542:136:154:NXN      0.153712:0.0797062:0.0546635:-828741:0.18599:136:154:NXN                                                0.0748392:0.0805954:0.353792:-632355:0.185542:136:154:GLOD4
17      151035  chr17:151035_T_C        T       C       .       PASS    GENE=RFLNB      STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                                   0.173528:0.0637044:0.00679708:-294904:0.185542:136:154:RFLNB     -0.0225716:0.0637816:0.72365:-570682:0.185542:136:154:VPS53                                             .:.:.:.:.:.:.:.  0.201258:0.0621724:0.00133124:-294904:0.185542:136:154:RFLNB    0.0360253:0.0351119:0.305644:-372105:0.185542:136:154:AC015853.3                        .:.:.:.:.:.:.:.  .:.:.:.:.:.:.:. -0.0543113:0.0813838:0.50502:-846094:0.185542:136:154:TIMM22
17      151035  chr17:151035_T_C        T       C       .       PASS    GENE=AC015853.3 STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                                   -0.00024197:0.0196687:0.990192:-372105:0.185542:136:154:AC015853.3       0.0116473:0.087552:0.894249:-581377:0.185542:136:154:TLCD3A                                     .:.:.:.:.:.:.:.  -0.00774357:0.0190365:0.684439:-372105:0.185542:136:154:AC015853.3      0.0580043:0.045674:0.205:-570682:0.185542:136:154:VPS53                         .:.:.:.:.:.:.:.  .:.:.:.:.:.:.:. .:.:.:.:.:.:.:.
17      151035  chr17:151035_T_C        T       C       .       PASS    GENE=VPS53      STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                                   -0.0261631:0.0445435:0.557366:-570682:0.185542:136:154:VPS53     0.124873:0.0870623:0.152445:-632355:0.185542:136:154:GLOD4                                              .:.:.:.:.:.:.:.  -0.0156192:0.043738:0.721241:-570682:0.185542:136:154:VPS53     0.0359808:0.0739761:0.62702:-581377:0.185542:136:154:TLCD3A                             .:.:.:.:.:.:.:.  .:.:.:.:.:.:.:. .:.:.:.:.:.:.:.
17      151035  chr17:151035_T_C        T       C       .       PASS    GENE=TLCD3A     STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                                   0.0280081:0.0528594:0.596568:-581377:0.185542:136:154:TLCD3A     0.00640265:0.061218:0.916767:-828741:0.185542:136:154:NXN                                               .:.:.:.:.:.:.:.  -0.0795696:0.0542971:0.143759:-631417:0.185542:136:154:MRM3     0.0459165:0.0638787:0.472773:-632355:0.185542:136:154:GLOD4                             .:.:.:.:.:.:.:.  .:.:.:.:.:.:.:. .:.:.:.:.:.:.:.
17      151035  chr17:151035_T_C        T       C       .       PASS    GENE=MRM3       STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                                   -0.077166:0.0560571:0.16959:-631417:0.185542:136:154:MRM3        -0.0264652:0.0814339:0.745396:-846094:0.185542:136:154:TIMM22                                           .:.:.:.:.:.:.:.  0.00394748:0.0338465:0.907226:-632355:0.185542:136:154:GLOD4    -0.079227:0.0542963:0.145481:-828741:0.185542:136:154:NXN                               .:.:.:.:.:.:.:.  .:.:.:.:.:.:.:. .:.:.:.:.:.:.:.
17      151035  chr17:151035_T_C        T       C       .       PASS    GENE=GLOD4      STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                                   0.0382981:0.034883:0.273055:-632355:0.185542:136:154:GLOD4       .:.:.:.:.:.:.:. .:.:.:.:.:.:.:. 0.147031:0.0538753:0.0066943:-828741:0.185542:136:154:NXN               0.0885787:0.0674267:0.189867:-846094:0.185542:136:154:TIMM22     .:.:.:.:.:.:.:. .:.:.:.:.:.:.:. .:.:.:.:.:.:.:.
17      151035  chr17:151035_T_C        T       C       .       PASS    GENE=NXN        STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                                   0.100119:0.0502687:0.0472384:-828741:0.185542:136:154:NXN        .:.:.:.:.:.:.:. .:.:.:.:.:.:.:. -0.00336568:0.0393559:0.931901:-846094:0.185542:136:154:TIMM22          .:.:.:.:.:.:.:.  .:.:.:.:.:.:.:. .:.:.:.:.:.:.:. .:.:.:.:.:.:.:.
17      151035  chr17:151035_T_C        T       C       .       PASS    GENE=TIMM22     STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                                   0.00525658:0.0398771:0.895208:-846094:0.185542:136:154:TIMM22    .:.:.:.:.:.:.:. .:.:.:.:.:.:.:. .:.:.:.:.:.:.:. .:.:.:.:.:.:.:.                                         .:.:.:.:.:.:.:.  .:.:.:.:.:.:.:. .:.:.:.:.:.:.:.
17      151041  chr17:151041_G_A        G       A       .       PASS    GENE=DOC2B      STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                                   0.17668:0.0669117:0.00867576:-30609:0.139759:102:116:DOC2B       -0.0366692:0.0726522:0.614093:-235213:0.139759:102:116:RPH3AL                                           0.0931908:0.0673909:0.167882:-828735:0.140625:86:99:NXN  0.121447:0.0677119:0.0738034:-30609:0.139759:102:116:DOC2B     0.13931:0.0875865:0.11268:-30609:0.139759:102:116:DOC2B   -0.184022:0.0836766:0.0285633:-570676:0.139759:102:116:VPS53    0.0545293:0.0861797:0.527347:-570676:0.140097:102:116:VPS53                                     -0.0754566:0.0652846:0.248602:-372099:0.139759:102:116:AC015853.3
17      151041  chr17:151041_G_A        G       A       .       PASS    GENE=RPH3AL     STAT:SE:P:TSS_D:AF:MA_SAMPLES:MA_COUNT:GENE.1                                   0.0134291:0.0780788:0.863548:-235213:0.139759:102:116:RPH3AL     -0.0111963:0.0889338:0.899893:-259284:0.139759:102:116:C17orf97                                         .:.:.:.:.:.:.:.  0.00734513:0.0826317:0.929224:-235213:0.139759:102:116:RPH3AL   -0.00278597:0.0647536:0.965709:-235213:0.139759:102:116:RPH3AL                          0.214712:0.0992383:0.0312188:-632349:0.139759:102:116:GLOD4      0.0533122:0.0946385:0.573602:-632349:0.140097:102:116:GLOD4                                             0.0813417:0.0725976:0.263346:-570676:0.139759:102:116:VPS53

@marcora
Copy link

marcora commented May 6, 2022

The resulting file would not be a valid VCF file since the same variant would be present in multiple rows. INFO field is for variant-level information that does not change across samples/traits/genes, while sample/trait/gene columns are for information (like genotype or association statistics) that vary by sample/trait/gene.

Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
None yet
Projects
None yet
Development

No branches or pull requests

3 participants