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Items: 1 to 20 of 1000

1.

rs1491569504 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    TT>- [Show Flanks]
    Chromosome:
    18:26392917 (GRCh38)
    18:23972881 (GRCh37)
    Canonical SPDI:
    NC_000018.10:26392916:TT:
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0./0 (ALFA)
    -=0.000044/5 (GnomAD)
    -=0.000106/2 (TOMMO)
    HGVS:

    2.

    rs1491561496 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GA>- [Show Flanks]
      Chromosome:
      18:26338498 (GRCh38)
      18:23918462 (GRCh37)
      Canonical SPDI:
      NC_000018.10:26338495:GAGA:GA
      Gene:
      TAF4B (Varview)
      Functional Consequence:
      intron_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GAGA=0./0 (ALFA)
      -=0.000137/16 (GnomAD)
      -=0.008009/226 (TOMMO)
      HGVS:

      3.

      rs1491553391 has merged into rs200019637 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        T>-,TT [Show Flanks]
        Chromosome:
        18:26238591 (GRCh38)
        18:23818555 (GRCh37)
        Canonical SPDI:
        NC_000018.10:26238590:TTTTTTTTTT:TTTTTTTTT,NC_000018.10:26238590:TTTTTTTTTT:TTTTTTTTTTT
        Gene:
        TAF4B (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTTT=0./0 (ALFA)
        -=0.000688/182 (TOPMED)
        -=0.008734/16 (Korea1K)
        HGVS:

        4.

        rs1491552924 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          CT>- [Show Flanks]
          Chromosome:
          18:26229513 (GRCh38)
          18:23809477 (GRCh37)
          Canonical SPDI:
          NC_000018.10:26229511:TCT:T
          Gene:
          TAF4B (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0.00008/1 (ALFA)
          HGVS:

          5.

          rs1491543602 has merged into rs10670568 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            CTCT>-,CT,CTCTCT,CTCTCTCT [Show Flanks]
            Chromosome:
            18:26263725 (GRCh38)
            18:23843689 (GRCh37)
            Canonical SPDI:
            NC_000018.10:26263711:TCTCTCTCTCTCTCTCT:TCTCTCTCTCTCT,NC_000018.10:26263711:TCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCT,NC_000018.10:26263711:TCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT,NC_000018.10:26263711:TCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT
            Gene:
            TAF4B (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TCTCTCTCTCTCTCTCTCTCT=0./0 (ALFA)
            -=0.041437/10968 (TOPMED)
            TC=0.073482/368 (1000Genomes)
            TC=0.125/5 (GENOME_DK)
            HGVS:

            6.

            rs1491522774 has merged into rs201177269 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
              Chromosome:
              18:26376529 (GRCh38)
              18:23956493 (GRCh37)
              Canonical SPDI:
              NC_000018.10:26376519:TTTTTTTTTTTTT:TTTTTTTTT,NC_000018.10:26376519:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000018.10:26376519:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000018.10:26376519:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000018.10:26376519:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000018.10:26376519:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000018.10:26376519:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
              Gene:
              TAF4B (Varview)
              Functional Consequence:
              intron_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTTTTTT=0./0 (ALFA)
              -=0.1383/412 (1000Genomes)
              HGVS:

              7.

              rs1491519899 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                CC>- [Show Flanks]
                Chromosome:
                18:26331464 (GRCh38)
                18:23911428 (GRCh37)
                Canonical SPDI:
                NC_000018.10:26331463:CC:
                Gene:
                TAF4B (Varview)
                Functional Consequence:
                intron_variant,genic_downstream_transcript_variant
                Validated:
                by frequency
                MAF:
                -=0.000007/1 (GnomAD)
                HGVS:

                8.

                rs1491499042 has merged into rs373495502 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT [Show Flanks]
                  Chromosome:
                  18:26301304 (GRCh38)
                  18:23881268 (GRCh37)
                  Canonical SPDI:
                  NC_000018.10:26301292:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000018.10:26301292:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000018.10:26301292:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000018.10:26301292:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000018.10:26301292:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000018.10:26301292:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000018.10:26301292:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000018.10:26301292:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
                  Gene:
                  TAF4B (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTTTTTTTTTTT=0./0 (ALFA)
                  -=0.000011/3 (TOPMED)
                  T=0.004913/9 (Korea1K)
                  T=0.048333/29 (NorthernSweden)
                  HGVS:

                  9.

                  rs1491440189 has merged into rs71169839 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TTTTTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                    Chromosome:
                    18:26261184 (GRCh38)
                    18:23841148 (GRCh37)
                    Canonical SPDI:
                    NC_000018.10:26261172:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000018.10:26261172:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000018.10:26261172:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000018.10:26261172:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000018.10:26261172:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000018.10:26261172:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000018.10:26261172:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000018.10:26261172:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000018.10:26261172:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000018.10:26261172:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26261172:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26261172:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26261172:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26261172:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26261172:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26261172:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26261172:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26261172:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26261172:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26261172:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26261172:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26261172:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26261172:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                    Gene:
                    TAF4B (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TTTTTTTTTTT=0./0 (ALFA)
                    -=0.000166/44 (TOPMED)
                    T=0.389177/1949 (1000Genomes)
                    HGVS:
                    NC_000018.10:g.26261184_26261199del, NC_000018.10:g.26261185_26261199del, NC_000018.10:g.26261187_26261199del, NC_000018.10:g.26261188_26261199del, NC_000018.10:g.26261189_26261199del, NC_000018.10:g.26261190_26261199del, NC_000018.10:g.26261191_26261199del, NC_000018.10:g.26261192_26261199del, NC_000018.10:g.26261193_26261199del, NC_000018.10:g.26261194_26261199del, NC_000018.10:g.26261195_26261199del, NC_000018.10:g.26261196_26261199del, NC_000018.10:g.26261197_26261199del, NC_000018.10:g.26261198_26261199del, NC_000018.10:g.26261199del, NC_000018.10:g.26261199dup, NC_000018.10:g.26261198_26261199dup, NC_000018.10:g.26261197_26261199dup, NC_000018.10:g.26261196_26261199dup, NC_000018.10:g.26261195_26261199dup, NC_000018.10:g.26261194_26261199dup, NC_000018.10:g.26261192_26261199dup, NC_000018.10:g.26261190_26261199dup, NC_000018.9:g.23841148_23841163del, NC_000018.9:g.23841149_23841163del, NC_000018.9:g.23841151_23841163del, NC_000018.9:g.23841152_23841163del, NC_000018.9:g.23841153_23841163del, NC_000018.9:g.23841154_23841163del, NC_000018.9:g.23841155_23841163del, NC_000018.9:g.23841156_23841163del, NC_000018.9:g.23841157_23841163del, NC_000018.9:g.23841158_23841163del, NC_000018.9:g.23841159_23841163del, NC_000018.9:g.23841160_23841163del, NC_000018.9:g.23841161_23841163del, NC_000018.9:g.23841162_23841163del, NC_000018.9:g.23841163del, NC_000018.9:g.23841163dup, NC_000018.9:g.23841162_23841163dup, NC_000018.9:g.23841161_23841163dup, NC_000018.9:g.23841160_23841163dup, NC_000018.9:g.23841159_23841163dup, NC_000018.9:g.23841158_23841163dup, NC_000018.9:g.23841156_23841163dup, NC_000018.9:g.23841154_23841163dup, NG_034162.1:g.39302_39317del, NG_034162.1:g.39303_39317del, NG_034162.1:g.39305_39317del, NG_034162.1:g.39306_39317del, NG_034162.1:g.39307_39317del, NG_034162.1:g.39308_39317del, NG_034162.1:g.39309_39317del, NG_034162.1:g.39310_39317del, NG_034162.1:g.39311_39317del, NG_034162.1:g.39312_39317del, NG_034162.1:g.39313_39317del, NG_034162.1:g.39314_39317del, NG_034162.1:g.39315_39317del, NG_034162.1:g.39316_39317del, NG_034162.1:g.39317del, NG_034162.1:g.39317dup, NG_034162.1:g.39316_39317dup, NG_034162.1:g.39315_39317dup, NG_034162.1:g.39314_39317dup, NG_034162.1:g.39313_39317dup, NG_034162.1:g.39312_39317dup, NG_034162.1:g.39310_39317dup, NG_034162.1:g.39308_39317dup

                    10.

                    rs1491428109 has merged into rs776976703 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTT,TTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTGTTTTTTTTTTTTTTT,TTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                      Chromosome:
                      18:26285229 (GRCh38)
                      18:23865193 (GRCh37)
                      Canonical SPDI:
                      NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:26285222:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                      Gene:
                      TAF4B (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TTTTTT=0./0 (ALFA)
                      HGVS:
                      NC_000018.10:g.26285229_26285236del, NC_000018.10:g.26285231_26285236del, NC_000018.10:g.26285233_26285236del, NC_000018.10:g.26285234_26285236del, NC_000018.10:g.26285235_26285236del, NC_000018.10:g.26285236del, NC_000018.10:g.26285223_26285236T[14]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.10:g.26285236dup, NC_000018.10:g.26285223_26285236T[15]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.10:g.26285223_26285236T[15]GTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.10:g.26285223_26285236T[15]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.10:g.26285235_26285236dup, NC_000018.10:g.26285223_26285236T[16]GTTTTTTTTTTTTTTT[1], NC_000018.10:g.26285223_26285236T[16]GTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.10:g.26285223_26285236T[16]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.10:g.26285234_26285236dup, NC_000018.10:g.26285223_26285236T[17]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.10:g.26285233_26285236dup, NC_000018.10:g.26285223_26285236T[18]ATTTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.10:g.26285232_26285236dup, NC_000018.10:g.26285223_26285236T[19]GTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.10:g.26285231_26285236dup, NC_000018.10:g.26285223_26285236T[20]GTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.10:g.26285230_26285236dup, NC_000018.10:g.26285229_26285236dup, NC_000018.10:g.26285228_26285236dup, NC_000018.10:g.26285227_26285236dup, NC_000018.10:g.26285226_26285236dup, NC_000018.10:g.26285225_26285236dup, NC_000018.10:g.26285224_26285236dup, NC_000018.10:g.26285223_26285236dup, NC_000018.10:g.26285236_26285237insTTTTTTTTTTTTTTT, NC_000018.10:g.26285236_26285237insTTTTTTTTTTTTTTTT, NC_000018.10:g.26285236_26285237insTTTTTTTTTTTTTTTTT, NC_000018.10:g.26285236_26285237insTTTTTTTTTTTTTTTTTT, NC_000018.10:g.26285236_26285237insTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.26285236_26285237insTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.26285236_26285237insTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.26285236_26285237insTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.26285236_26285237insTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.26285236_26285237insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.26285236_26285237insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.26285236_26285237insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.26285236_26285237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.26285236_26285237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.26285236_26285237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.26285236_26285237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.26285236_26285237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.26285236_26285237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.26285236_26285237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.26285236_26285237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.26285236_26285237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.26285236_26285237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.26285236_26285237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.26285236_26285237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.26285236_26285237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.26285236_26285237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.26285236_26285237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.26285236_26285237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.26285236_26285237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.26285236_26285237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.26285236_26285237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.26285236_26285237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.23865193_23865200del, NC_000018.9:g.23865195_23865200del, NC_000018.9:g.23865197_23865200del, NC_000018.9:g.23865198_23865200del, NC_000018.9:g.23865199_23865200del, NC_000018.9:g.23865200del, NC_000018.9:g.23865187_23865200T[14]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.9:g.23865200dup, NC_000018.9:g.23865187_23865200T[15]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.9:g.23865187_23865200T[15]GTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.9:g.23865187_23865200T[15]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.9:g.23865199_23865200dup, NC_000018.9:g.23865187_23865200T[16]GTTTTTTTTTTTTTTT[1], NC_000018.9:g.23865187_23865200T[16]GTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.9:g.23865187_23865200T[16]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.9:g.23865198_23865200dup, NC_000018.9:g.23865187_23865200T[17]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.9:g.23865197_23865200dup, NC_000018.9:g.23865187_23865200T[18]ATTTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.9:g.23865196_23865200dup, NC_000018.9:g.23865187_23865200T[19]GTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.9:g.23865195_23865200dup, NC_000018.9:g.23865187_23865200T[20]GTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.9:g.23865194_23865200dup, NC_000018.9:g.23865193_23865200dup, NC_000018.9:g.23865192_23865200dup, NC_000018.9:g.23865191_23865200dup, NC_000018.9:g.23865190_23865200dup, NC_000018.9:g.23865189_23865200dup, NC_000018.9:g.23865188_23865200dup, NC_000018.9:g.23865187_23865200dup, NC_000018.9:g.23865200_23865201insTTTTTTTTTTTTTTT, NC_000018.9:g.23865200_23865201insTTTTTTTTTTTTTTTT, NC_000018.9:g.23865200_23865201insTTTTTTTTTTTTTTTTT, NC_000018.9:g.23865200_23865201insTTTTTTTTTTTTTTTTTT, NC_000018.9:g.23865200_23865201insTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.23865200_23865201insTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.23865200_23865201insTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.23865200_23865201insTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.23865200_23865201insTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.23865200_23865201insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.23865200_23865201insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.23865200_23865201insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.23865200_23865201insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.23865200_23865201insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.23865200_23865201insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.23865200_23865201insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.23865200_23865201insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.23865200_23865201insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.23865200_23865201insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.23865200_23865201insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.23865200_23865201insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.23865200_23865201insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.23865200_23865201insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.23865200_23865201insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.23865200_23865201insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.23865200_23865201insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.23865200_23865201insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.23865200_23865201insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.23865200_23865201insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.23865200_23865201insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.23865200_23865201insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.23865200_23865201insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034162.1:g.63347_63354del, NG_034162.1:g.63349_63354del, NG_034162.1:g.63351_63354del, NG_034162.1:g.63352_63354del, NG_034162.1:g.63353_63354del, NG_034162.1:g.63354del, NG_034162.1:g.63341_63354T[14]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_034162.1:g.63354dup, NG_034162.1:g.63341_63354T[15]GTTTTTTTTTTTTTTTTTTTTTT[1], NG_034162.1:g.63341_63354T[15]GTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_034162.1:g.63341_63354T[15]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_034162.1:g.63353_63354dup, NG_034162.1:g.63341_63354T[16]GTTTTTTTTTTTTTTT[1], NG_034162.1:g.63341_63354T[16]GTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_034162.1:g.63341_63354T[16]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_034162.1:g.63352_63354dup, NG_034162.1:g.63341_63354T[17]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_034162.1:g.63351_63354dup, NG_034162.1:g.63341_63354T[18]ATTTTTTTTTTTTTTTTTTTTTTT[1], NG_034162.1:g.63350_63354dup, NG_034162.1:g.63341_63354T[19]GTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_034162.1:g.63349_63354dup, NG_034162.1:g.63341_63354T[20]GTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_034162.1:g.63348_63354dup, NG_034162.1:g.63347_63354dup, NG_034162.1:g.63346_63354dup, NG_034162.1:g.63345_63354dup, NG_034162.1:g.63344_63354dup, NG_034162.1:g.63343_63354dup, NG_034162.1:g.63342_63354dup, NG_034162.1:g.63341_63354dup, NG_034162.1:g.63354_63355insTTTTTTTTTTTTTTT, NG_034162.1:g.63354_63355insTTTTTTTTTTTTTTTT, NG_034162.1:g.63354_63355insTTTTTTTTTTTTTTTTT, NG_034162.1:g.63354_63355insTTTTTTTTTTTTTTTTTT, NG_034162.1:g.63354_63355insTTTTTTTTTTTTTTTTTTT, NG_034162.1:g.63354_63355insTTTTTTTTTTTTTTTTTTTT, NG_034162.1:g.63354_63355insTTTTTTTTTTTTTTTTTTTTT, NG_034162.1:g.63354_63355insTTTTTTTTTTTTTTTTTTTTTT, NG_034162.1:g.63354_63355insTTTTTTTTTTTTTTTTTTTTTTT, NG_034162.1:g.63354_63355insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034162.1:g.63354_63355insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034162.1:g.63354_63355insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034162.1:g.63354_63355insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034162.1:g.63354_63355insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034162.1:g.63354_63355insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034162.1:g.63354_63355insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034162.1:g.63354_63355insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034162.1:g.63354_63355insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034162.1:g.63354_63355insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034162.1:g.63354_63355insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034162.1:g.63354_63355insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034162.1:g.63354_63355insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034162.1:g.63354_63355insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034162.1:g.63354_63355insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034162.1:g.63354_63355insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034162.1:g.63354_63355insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034162.1:g.63354_63355insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034162.1:g.63354_63355insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034162.1:g.63354_63355insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034162.1:g.63354_63355insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034162.1:g.63354_63355insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034162.1:g.63354_63355insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

                      11.

                      rs1491426920 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->AAG [Show Flanks]
                        Chromosome:
                        18:26249742 (GRCh38)
                        18:23829707 (GRCh37)
                        Canonical SPDI:
                        NC_000018.10:26249742:AAG:AAGAAG
                        Gene:
                        TAF4B (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAGAAG=0./0 (ALFA)
                        AAG=0.000008/2 (TOPMED)
                        AAG=0.000014/2 (GnomAD)
                        HGVS:

                        12.

                        rs1491398351 has merged into rs56401387 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          GTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
                          Chromosome:
                          18:26392929 (GRCh38)
                          18:23972893 (GRCh37)
                          Canonical SPDI:
                          NC_000018.10:26392917:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGT,NC_000018.10:26392917:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000018.10:26392917:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000018.10:26392917:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000018.10:26392917:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000018.10:26392917:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:26392917:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:26392917:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:26392917:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:26392917:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:26392917:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TGTGTGTGTGTGT=0./0 (ALFA)
                          TG=0.142/711 (1000Genomes)
                          HGVS:
                          NC_000018.10:g.26392919GT[5], NC_000018.10:g.26392919GT[6], NC_000018.10:g.26392919GT[7], NC_000018.10:g.26392919GT[8], NC_000018.10:g.26392919GT[9], NC_000018.10:g.26392919GT[11], NC_000018.10:g.26392919GT[12], NC_000018.10:g.26392919GT[13], NC_000018.10:g.26392919GT[14], NC_000018.10:g.26392919GT[18], NC_000018.10:g.26392919GT[19], NC_000018.9:g.23972883GT[5], NC_000018.9:g.23972883GT[6], NC_000018.9:g.23972883GT[7], NC_000018.9:g.23972883GT[8], NC_000018.9:g.23972883GT[9], NC_000018.9:g.23972883GT[11], NC_000018.9:g.23972883GT[12], NC_000018.9:g.23972883GT[13], NC_000018.9:g.23972883GT[14], NC_000018.9:g.23972883GT[18], NC_000018.9:g.23972883GT[19], NG_034162.1:g.171037GT[5], NG_034162.1:g.171037GT[6], NG_034162.1:g.171037GT[7], NG_034162.1:g.171037GT[8], NG_034162.1:g.171037GT[9], NG_034162.1:g.171037GT[11], NG_034162.1:g.171037GT[12], NG_034162.1:g.171037GT[13], NG_034162.1:g.171037GT[14], NG_034162.1:g.171037GT[18], NG_034162.1:g.171037GT[19]

                          13.

                          rs1491355547 [Homo sapiens]
                            Variant type:
                            SNV:
                            Alleles:
                            ->G
                            Chromosome:
                            no mapping
                            Canonical SPDI:

                            14.

                            rs1491355218 has merged into rs1265965455 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TT>-,T,TTT [Show Flanks]
                              Chromosome:
                              18:26256147 (GRCh38)
                              18:23836111 (GRCh37)
                              Canonical SPDI:
                              NC_000018.10:26256138:TTTTTTTTTT:TTTTTTTT,NC_000018.10:26256138:TTTTTTTTTT:TTTTTTTTT,NC_000018.10:26256138:TTTTTTTTTT:TTTTTTTTTTT
                              Gene:
                              TAF4B (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TTTTTTTTT=0./0 (ALFA)
                              T=0.00004/1 (TOMMO)
                              T=0.0071/13 (Korea1K)
                              HGVS:

                              15.

                              rs1491338693 [Homo sapiens]
                                Variant type:
                                SNV:
                                Alleles:
                                ->CTTTTCTTTTCTT
                                Chromosome:
                                no mapping
                                Canonical SPDI:

                                16.

                                rs1491312876 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  CC>- [Show Flanks]
                                  Chromosome:
                                  18:26364433 (GRCh38)
                                  18:23944397 (GRCh37)
                                  Canonical SPDI:
                                  NC_000018.10:26364432:CC:
                                  Gene:
                                  TAF4B (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  -=0.042799/699 (ALFA)
                                  -=0.000035/1 (TOMMO)
                                  -=0.018894/121 (1000Genomes)
                                  -=0.042454/5949 (GnomAD)
                                  -=0.044196/198 (Estonian)
                                  -=0.078333/47 (NorthernSweden)
                                  HGVS:

                                  17.

                                  rs1491312163 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    TA>- [Show Flanks]
                                    Chromosome:
                                    18:26369221 (GRCh38)
                                    18:23949185 (GRCh37)
                                    Canonical SPDI:
                                    NC_000018.10:26369220:TA:
                                    Gene:
                                    TAF4B (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    -=0./0 (ALFA)
                                    -=0.000011/3 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1491289623 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->GT [Show Flanks]
                                      Chromosome:
                                      18:26301293 (GRCh38)
                                      18:23881258 (GRCh37)
                                      Canonical SPDI:
                                      NC_000018.10:26301293:T:TGT
                                      Gene:
                                      TAF4B (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      TGT=0./0 (ALFA)
                                      TG=0.000008/2 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1491271389 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->GTTTT,GTTTTTGTTTT,GTTTTTGTTTTTGTTTTTGTTTT [Show Flanks]
                                        Chromosome:
                                        18:26285223 (GRCh38)
                                        18:23865188 (GRCh37)
                                        Canonical SPDI:
                                        NC_000018.10:26285223:TTTT:TTTTGTTTT,NC_000018.10:26285223:TTTT:TTTTGTTTTTGTTTT,NC_000018.10:26285223:TTTT:TTTTGTTTTTGTTTTTGTTTTTGTTTT
                                        Gene:
                                        TAF4B (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        TTTTGTTTTTGTTTT=0./0 (ALFA)
                                        HGVS:

                                        20.

                                        rs1491270630 has merged into rs58802058 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          AAAAAAAAAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                                          Chromosome:
                                          18:26363379 (GRCh38)
                                          18:23943343 (GRCh37)
                                          Canonical SPDI:
                                          NC_000018.10:26363370:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000018.10:26363370:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:26363370:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:26363370:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:26363370:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:26363370:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:26363370:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:26363370:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:26363370:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:26363370:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:26363370:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:26363370:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:26363370:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:26363370:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:26363370:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:26363370:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:26363370:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:26363370:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                          Gene:
                                          TAF4B (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          AAAAAAAA=0./0 (ALFA)
                                          AAAAAAAA=0.007/4 (NorthernSweden)
                                          HGVS:
                                          NC_000018.10:g.26363379_26363398del, NC_000018.10:g.26363383_26363398del, NC_000018.10:g.26363384_26363398del, NC_000018.10:g.26363385_26363398del, NC_000018.10:g.26363386_26363398del, NC_000018.10:g.26363389_26363398del, NC_000018.10:g.26363390_26363398del, NC_000018.10:g.26363391_26363398del, NC_000018.10:g.26363392_26363398del, NC_000018.10:g.26363393_26363398del, NC_000018.10:g.26363394_26363398del, NC_000018.10:g.26363395_26363398del, NC_000018.10:g.26363396_26363398del, NC_000018.10:g.26363397_26363398del, NC_000018.10:g.26363398del, NC_000018.10:g.26363398dup, NC_000018.10:g.26363397_26363398dup, NC_000018.10:g.26363391_26363398dup, NC_000018.9:g.23943343_23943362del, NC_000018.9:g.23943347_23943362del, NC_000018.9:g.23943348_23943362del, NC_000018.9:g.23943349_23943362del, NC_000018.9:g.23943350_23943362del, NC_000018.9:g.23943353_23943362del, NC_000018.9:g.23943354_23943362del, NC_000018.9:g.23943355_23943362del, NC_000018.9:g.23943356_23943362del, NC_000018.9:g.23943357_23943362del, NC_000018.9:g.23943358_23943362del, NC_000018.9:g.23943359_23943362del, NC_000018.9:g.23943360_23943362del, NC_000018.9:g.23943361_23943362del, NC_000018.9:g.23943362del, NC_000018.9:g.23943362dup, NC_000018.9:g.23943361_23943362dup, NC_000018.9:g.23943355_23943362dup, NG_034162.1:g.141497_141516del, NG_034162.1:g.141501_141516del, NG_034162.1:g.141502_141516del, NG_034162.1:g.141503_141516del, NG_034162.1:g.141504_141516del, NG_034162.1:g.141507_141516del, NG_034162.1:g.141508_141516del, NG_034162.1:g.141509_141516del, NG_034162.1:g.141510_141516del, NG_034162.1:g.141511_141516del, NG_034162.1:g.141512_141516del, NG_034162.1:g.141513_141516del, NG_034162.1:g.141514_141516del, NG_034162.1:g.141515_141516del, NG_034162.1:g.141516del, NG_034162.1:g.141516dup, NG_034162.1:g.141515_141516dup, NG_034162.1:g.141509_141516dup

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