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Items: 1 to 20 of 8361

1.

rs1491566110 has merged into rs59000289 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CC>-,C,CCC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC [Show Flanks]
    Chromosome:
    6:42052327 (GRCh38)
    6:42020065 (GRCh37)
    Canonical SPDI:
    NC_000006.12:42052317:CCCCCCCCCCC:CCCCCCCCC,NC_000006.12:42052317:CCCCCCCCCCC:CCCCCCCCCC,NC_000006.12:42052317:CCCCCCCCCCC:CCCCCCCCCCCC,NC_000006.12:42052317:CCCCCCCCCCC:CCCCCCCCCCCCC,NC_000006.12:42052317:CCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000006.12:42052317:CCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000006.12:42052317:CCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000006.12:42052317:CCCCCCCCCCC:CCCCCCCCCCCCCCCCC
    Gene:
    TAF8 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CCCCCCCCCCCCC=0./0 (ALFA)
    -=0.3956/1981 (1000Genomes)
    HGVS:

    2.

    rs1491565346 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CT>- [Show Flanks]
      Chromosome:
      6:42052328 (GRCh38)
      6:42020066 (GRCh37)
      Canonical SPDI:
      NC_000006.12:42052327:CT:
      Gene:
      TAF8 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0.000084/1 (ALFA)
      -=0.000189/26 (GnomAD)
      -=0.004913/9 (Korea1K)
      HGVS:

      3.

      rs1491466459 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CA>- [Show Flanks]
        Chromosome:
        6:42053565 (GRCh38)
        6:42021303 (GRCh37)
        Canonical SPDI:
        NC_000006.12:42053564:CA:
        Gene:
        TAF8 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        HGVS:

        4.

        rs1491335710 has merged into rs59214523 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAAAAAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
          Chromosome:
          6:42064968 (GRCh38)
          6:42032706 (GRCh37)
          Canonical SPDI:
          NC_000006.12:42064956:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:42064956:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:42064956:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:42064956:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:42064956:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:42064956:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:42064956:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:42064956:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:42064956:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42064956:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42064956:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42064956:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42064956:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42064956:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42064956:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          TAF8 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAAAA=0./0 (ALFA)
          HGVS:
          NC_000006.12:g.42064968_42064978del, NC_000006.12:g.42064970_42064978del, NC_000006.12:g.42064971_42064978del, NC_000006.12:g.42064973_42064978del, NC_000006.12:g.42064974_42064978del, NC_000006.12:g.42064975_42064978del, NC_000006.12:g.42064976_42064978del, NC_000006.12:g.42064977_42064978del, NC_000006.12:g.42064978del, NC_000006.12:g.42064978dup, NC_000006.12:g.42064977_42064978dup, NC_000006.12:g.42064976_42064978dup, NC_000006.12:g.42064975_42064978dup, NC_000006.12:g.42064974_42064978dup, NC_000006.12:g.42064973_42064978dup, NC_000006.11:g.42032706_42032716del, NC_000006.11:g.42032708_42032716del, NC_000006.11:g.42032709_42032716del, NC_000006.11:g.42032711_42032716del, NC_000006.11:g.42032712_42032716del, NC_000006.11:g.42032713_42032716del, NC_000006.11:g.42032714_42032716del, NC_000006.11:g.42032715_42032716del, NC_000006.11:g.42032716del, NC_000006.11:g.42032716dup, NC_000006.11:g.42032715_42032716dup, NC_000006.11:g.42032714_42032716dup, NC_000006.11:g.42032713_42032716dup, NC_000006.11:g.42032712_42032716dup, NC_000006.11:g.42032711_42032716dup

          5.

          rs1491332029 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CT>- [Show Flanks]
            Chromosome:
            6:42078347 (GRCh38)
            6:42046085 (GRCh37)
            Canonical SPDI:
            NC_000006.12:42078346:CT:
            Gene:
            TAF8 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
            Validated:
            by cluster
            HGVS:

            6.

            rs1491253210 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              CA>- [Show Flanks]
              Chromosome:
              6:42064956 (GRCh38)
              6:42032694 (GRCh37)
              Canonical SPDI:
              NC_000006.12:42064955:CA:
              Gene:
              TAF8 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              -=0.02251/267 (ALFA)
              -=0.0005/14 (TOMMO)
              HGVS:

              7.

              rs1491236570 [Homo sapiens]
                Variant type:
                INS
                Alleles:
                ->CCT,CCTT,CG,CGG,CGGG,CT,CTT,GGG,GGGG,GGGGG [Show Flanks]
                Chromosome:
                6:42052328 (GRCh38)
                6:42020067 (GRCh37)
                Canonical SPDI:
                NC_000006.12:42052328::CCT,NC_000006.12:42052328::CCTT,NC_000006.12:42052328::CG,NC_000006.12:42052328::CGG,NC_000006.12:42052328::CGGG,NC_000006.12:42052328::CT,NC_000006.12:42052328::CTT,NC_000006.12:42052328::GGG,NC_000006.12:42052328::GGGG,NC_000006.12:42052328::GGGGG
                Gene:
                TAF8 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                CGG=0./0 (ALFA)
                HGVS:
                NC_000006.12:g.42052328_42052329insCCT, NC_000006.12:g.42052328_42052329insCCTT, NC_000006.12:g.42052328_42052329insCG, NC_000006.12:g.42052328_42052329insCGG, NC_000006.12:g.42052328_42052329insCGGG, NC_000006.12:g.42052328_42052329insCT, NC_000006.12:g.42052328_42052329insCTT, NC_000006.12:g.42052328_42052329insGGG, NC_000006.12:g.42052328_42052329insGGGG, NC_000006.12:g.42052328_42052329insGGGGG, NC_000006.11:g.42020066_42020067insCCT, NC_000006.11:g.42020066_42020067insCCTT, NC_000006.11:g.42020066_42020067insCG, NC_000006.11:g.42020066_42020067insCGG, NC_000006.11:g.42020066_42020067insCGGG, NC_000006.11:g.42020066_42020067insCT, NC_000006.11:g.42020066_42020067insCTT, NC_000006.11:g.42020066_42020067insGGG, NC_000006.11:g.42020066_42020067insGGGG, NC_000006.11:g.42020066_42020067insGGGGG, NG_041939.1:g.1566_1567insAGG, NG_041939.1:g.1566_1567insAAGG, NG_041939.1:g.1566_1567insCG, NG_041939.1:g.1566_1567insCCG, NG_041939.1:g.1566_1567insCCCG, NG_041939.1:g.1566_1567insAG, NG_041939.1:g.1566_1567insAAG, NG_041939.1:g.1566_1567insCCC, NG_041939.1:g.1566_1567insCCCC, NG_041939.1:g.1566_1567insCCCCC

                8.

                rs1491149606 has merged into rs58805733 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
                  Chromosome:
                  6:42081180 (GRCh38)
                  6:42048918 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:42081170:GTGTGTGTGTGTGTGTGTGTG:GTGTGTGTG,NC_000006.12:42081170:GTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTG,NC_000006.12:42081170:GTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTG,NC_000006.12:42081170:GTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTG,NC_000006.12:42081170:GTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000006.12:42081170:GTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000006.12:42081170:GTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:42081170:GTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:42081170:GTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:42081170:GTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:42081170:GTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
                  Gene:
                  TAF8 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  GTGTGTGTGTG=0./0 (ALFA)
                  HGVS:
                  NC_000006.12:g.42081172TG[4], NC_000006.12:g.42081172TG[5], NC_000006.12:g.42081172TG[6], NC_000006.12:g.42081172TG[7], NC_000006.12:g.42081172TG[8], NC_000006.12:g.42081172TG[9], NC_000006.12:g.42081172TG[11], NC_000006.12:g.42081172TG[12], NC_000006.12:g.42081172TG[13], NC_000006.12:g.42081172TG[14], NC_000006.12:g.42081172TG[15], NC_000006.11:g.42048910TG[4], NC_000006.11:g.42048910TG[5], NC_000006.11:g.42048910TG[6], NC_000006.11:g.42048910TG[7], NC_000006.11:g.42048910TG[8], NC_000006.11:g.42048910TG[9], NC_000006.11:g.42048910TG[11], NC_000006.11:g.42048910TG[12], NC_000006.11:g.42048910TG[13], NC_000006.11:g.42048910TG[14], NC_000006.11:g.42048910TG[15], NM_138572.3:c.*3627TG[4], NM_138572.3:c.*3627TG[5], NM_138572.3:c.*3627TG[6], NM_138572.3:c.*3627TG[7], NM_138572.3:c.*3627TG[8], NM_138572.3:c.*3627TG[9], NM_138572.3:c.*3627TG[11], NM_138572.3:c.*3627TG[12], NM_138572.3:c.*3627TG[13], NM_138572.3:c.*3627TG[14], NM_138572.3:c.*3627TG[15], XM_017010245.2:c.*3627TG[4], XM_017010245.2:c.*3627TG[5], XM_017010245.2:c.*3627TG[6], XM_017010245.2:c.*3627TG[7], XM_017010245.2:c.*3627TG[8], XM_017010245.2:c.*3627TG[9], XM_017010245.2:c.*3627TG[11], XM_017010245.2:c.*3627TG[12], XM_017010245.2:c.*3627TG[13], XM_017010245.2:c.*3627TG[14], XM_017010245.2:c.*3627TG[15], XM_017010245.1:c.*3627TG[4], XM_017010245.1:c.*3627TG[5], XM_017010245.1:c.*3627TG[6], XM_017010245.1:c.*3627TG[7], XM_017010245.1:c.*3627TG[8], XM_017010245.1:c.*3627TG[9], XM_017010245.1:c.*3627TG[11], XM_017010245.1:c.*3627TG[12], XM_017010245.1:c.*3627TG[13], XM_017010245.1:c.*3627TG[14], XM_017010245.1:c.*3627TG[15], NM_001410906.1:c.*1397TG[4], NM_001410906.1:c.*1397TG[5], NM_001410906.1:c.*1397TG[6], NM_001410906.1:c.*1397TG[7], NM_001410906.1:c.*1397TG[8], NM_001410906.1:c.*1397TG[9], NM_001410906.1:c.*1397TG[11], NM_001410906.1:c.*1397TG[12], NM_001410906.1:c.*1397TG[13], NM_001410906.1:c.*1397TG[14], NM_001410906.1:c.*1397TG[15]

                  9.

                  rs1491124624 has merged into rs35079316 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AAA>-,A,AA,AAAA,AAAAAAAAAA [Show Flanks]
                    Chromosome:
                    6:42053576 (GRCh38)
                    6:42021314 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:42053565:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:42053565:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:42053565:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:42053565:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:42053565:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
                    Gene:
                    TAF8 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AAAAAAAAAAA=0./0 (ALFA)
                    -=0.1207/465 (ALSPAC)
                    A=0.4704/2356 (1000Genomes)
                    HGVS:

                    10.

                    rs1491111183 has merged into rs138805514 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      CG>-,CGCG,CGCGCG [Show Flanks]
                      Chromosome:
                      6:42081192 (GRCh38)
                      6:42048930 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:42081190:GCG:G,NC_000006.12:42081190:GCG:GCGCG,NC_000006.12:42081190:GCG:GCGCGCG
                      Gene:
                      TAF8 (Varview)
                      Functional Consequence:
                      intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      GCGCGCG=0.00013/2 (ALFA)
                      GCGC=0.005/3 (NorthernSweden)
                      GC=0.01255/23 (Korea1K)
                      HGVS:

                      11.

                      rs1491015654 has merged into rs5875786 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
                        Chromosome:
                        6:42080007 (GRCh38)
                        6:42047745 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:42079995:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:42079995:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:42079995:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:42079995:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:42079995:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
                        Gene:
                        TAF8 (Varview)
                        Functional Consequence:
                        downstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAAAAAAAAAAAAAA=0./0 (ALFA)
                        -=0.3795/1157 (1000Genomes)
                        HGVS:
                        NC_000006.12:g.42080007_42080008del, NC_000006.12:g.42080008del, NC_000006.12:g.42080008dup, NC_000006.12:g.42080007_42080008dup, NC_000006.12:g.42080006_42080008dup, NC_000006.11:g.42047745_42047746del, NC_000006.11:g.42047746del, NC_000006.11:g.42047746dup, NC_000006.11:g.42047745_42047746dup, NC_000006.11:g.42047744_42047746dup, NM_138572.3:c.*2462_*2463del, NM_138572.3:c.*2463del, NM_138572.3:c.*2463dup, NM_138572.3:c.*2462_*2463dup, NM_138572.3:c.*2461_*2463dup, NM_138572.2:c.*2462_*2463del, NM_138572.2:c.*2463del, NM_138572.2:c.*2463dup, NM_138572.2:c.*2462_*2463dup, NM_138572.2:c.*2461_*2463dup, XM_017010241.3:c.*232_*233del, XM_017010241.3:c.*233del, XM_017010241.3:c.*233dup, XM_017010241.3:c.*232_*233dup, XM_017010241.3:c.*231_*233dup, XM_017010244.3:c.*232_*233del, XM_017010244.3:c.*233del, XM_017010244.3:c.*233dup, XM_017010244.3:c.*232_*233dup, XM_017010244.3:c.*231_*233dup, XM_017010244.2:c.*232_*233del, XM_017010244.2:c.*233del, XM_017010244.2:c.*233dup, XM_017010244.2:c.*232_*233dup, XM_017010244.2:c.*231_*233dup, XM_017010244.1:c.*232_*233del, XM_017010244.1:c.*233del, XM_017010244.1:c.*233dup, XM_017010244.1:c.*232_*233dup, XM_017010244.1:c.*231_*233dup, XM_017010245.2:c.*2462_*2463del, XM_017010245.2:c.*2463del, XM_017010245.2:c.*2463dup, XM_017010245.2:c.*2462_*2463dup, XM_017010245.2:c.*2461_*2463dup, XM_017010245.1:c.*2462_*2463del, XM_017010245.1:c.*2463del, XM_017010245.1:c.*2463dup, XM_017010245.1:c.*2462_*2463dup, XM_017010245.1:c.*2461_*2463dup, NM_001410906.1:c.*232_*233del, NM_001410906.1:c.*233del, NM_001410906.1:c.*233dup, NM_001410906.1:c.*232_*233dup, NM_001410906.1:c.*231_*233dup

                        12.

                        rs1490902529 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          6:42075370 (GRCh38)
                          6:42043108 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:42075369:A:C
                          Gene:
                          TAF8 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000007/1 (GnomAD)
                          HGVS:

                          13.

                          rs1490890230 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            6:42061372 (GRCh38)
                            6:42029110 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:42061371:A:G
                            Gene:
                            TAF8 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000008/2 (TOPMED)
                            HGVS:

                            14.

                            rs1490882307 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              6:42079990 (GRCh38)
                              6:42047728 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:42079989:G:A
                              Gene:
                              TAF8 (Varview)
                              Functional Consequence:
                              downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0.000084/1 (ALFA)
                              A=0.000045/12 (TOPMED)
                              A=0.000072/7 (GnomAD)
                              HGVS:

                              15.

                              rs1490774914 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                6:42081947 (GRCh38)
                                6:42049685 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:42081946:A:G
                                Gene:
                                TAF8 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                G=0.000008/2 (TOPMED)
                                HGVS:

                                16.

                                rs1490696626 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  6:42056025 (GRCh38)
                                  6:42023763 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:42056024:T:G
                                  Gene:
                                  TAF8 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:

                                  17.

                                  rs1490685067 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    6:42053491 (GRCh38)
                                    6:42021229 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:42053490:G:A
                                    Gene:
                                    TAF8 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000014/2 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1490670499 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      6:42064753 (GRCh38)
                                      6:42032491 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:42064752:C:T
                                      Gene:
                                      TAF8 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0.000071/1 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1490604405 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        6:42069002 (GRCh38)
                                        6:42036740 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:42069001:G:A
                                        Gene:
                                        TAF8 (Varview)
                                        Functional Consequence:
                                        downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000023/6 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1490582393 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          6:42052250 (GRCh38)
                                          6:42019988 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:42052249:G:A
                                          Gene:
                                          TAF8 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:

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