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1.

rs1491535106 has merged into rs11344697 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTTTTTTTTT>-,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    17:50709599 (GRCh38)
    17:48786960 (GRCh37)
    Canonical SPDI:
    NC_000017.11:50709589:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:50709589:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:50709589:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:50709589:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:50709589:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:50709589:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:50709589:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:50709589:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:50709589:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:50709589:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:50709589:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:50709589:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:50709589:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:50709589:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:50709589:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:50709589:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:50709589:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:50709589:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:50709589:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:50709589:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:50709589:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    ANKRD40 (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTTTTT=0./0 (ALFA)
    -=0.000015/4 (TOPMED)
    HGVS:
    NC_000017.11:g.50709599_50709611del, NC_000017.11:g.50709605_50709611del, NC_000017.11:g.50709606_50709611del, NC_000017.11:g.50709607_50709611del, NC_000017.11:g.50709608_50709611del, NC_000017.11:g.50709609_50709611del, NC_000017.11:g.50709610_50709611del, NC_000017.11:g.50709611del, NC_000017.11:g.50709611dup, NC_000017.11:g.50709610_50709611dup, NC_000017.11:g.50709609_50709611dup, NC_000017.11:g.50709608_50709611dup, NC_000017.11:g.50709607_50709611dup, NC_000017.11:g.50709606_50709611dup, NC_000017.11:g.50709605_50709611dup, NC_000017.11:g.50709604_50709611dup, NC_000017.11:g.50709603_50709611dup, NC_000017.11:g.50709602_50709611dup, NC_000017.11:g.50709601_50709611dup, NC_000017.11:g.50709611_50709612insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.50709611_50709612insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.48786960_48786972del, NC_000017.10:g.48786966_48786972del, NC_000017.10:g.48786967_48786972del, NC_000017.10:g.48786968_48786972del, NC_000017.10:g.48786969_48786972del, NC_000017.10:g.48786970_48786972del, NC_000017.10:g.48786971_48786972del, NC_000017.10:g.48786972del, NC_000017.10:g.48786972dup, NC_000017.10:g.48786971_48786972dup, NC_000017.10:g.48786970_48786972dup, NC_000017.10:g.48786969_48786972dup, NC_000017.10:g.48786968_48786972dup, NC_000017.10:g.48786967_48786972dup, NC_000017.10:g.48786966_48786972dup, NC_000017.10:g.48786965_48786972dup, NC_000017.10:g.48786964_48786972dup, NC_000017.10:g.48786963_48786972dup, NC_000017.10:g.48786962_48786972dup, NC_000017.10:g.48786972_48786973insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.48786972_48786973insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

    2.

    rs1491371518 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->A [Show Flanks]
      Chromosome:
      17:50709590 (GRCh38)
      17:48786952 (GRCh37)
      Canonical SPDI:
      NC_000017.11:50709590::A
      Gene:
      ANKRD40 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency
      MAF:
      A=0.00004/2 (GnomAD)
      HGVS:

      3.

      rs1491357371 has merged into rs60793271 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTT>-,T,TT,TTTT,TTTTT,TTTTTTTTTTTT [Show Flanks]
        Chromosome:
        17:50706137 (GRCh38)
        17:48783498 (GRCh37)
        Canonical SPDI:
        NC_000017.11:50706125:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:50706125:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:50706125:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:50706125:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:50706125:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:50706125:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
        Gene:
        ANKRD40 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTTTTTTT=0./0 (ALFA)
        -=0.04667/28 (NorthernSweden)
        -=0.125/5 (GENOME_DK)
        HGVS:

        4.

        rs1491279191 has merged into rs56389674 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAAAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAACCTAACATAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
          Chromosome:
          17:50705128 (GRCh38)
          17:48782489 (GRCh37)
          Canonical SPDI:
          NC_000017.11:50705120:AAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000017.11:50705120:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:50705120:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:50705120:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:50705120:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:50705120:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:50705120:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:50705120:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:50705120:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:50705120:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:50705120:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50705120:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50705120:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50705120:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50705120:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAACCTAACATAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          ANKRD40 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAA=0./0 (ALFA)
          -=0.000004/1 (TOPMED)
          HGVS:
          NC_000017.11:g.50705128_50705140del, NC_000017.11:g.50705131_50705140del, NC_000017.11:g.50705133_50705140del, NC_000017.11:g.50705134_50705140del, NC_000017.11:g.50705135_50705140del, NC_000017.11:g.50705136_50705140del, NC_000017.11:g.50705137_50705140del, NC_000017.11:g.50705138_50705140del, NC_000017.11:g.50705139_50705140del, NC_000017.11:g.50705140del, NC_000017.11:g.50705140dup, NC_000017.11:g.50705139_50705140dup, NC_000017.11:g.50705138_50705140dup, NC_000017.11:g.50705137_50705140dup, NC_000017.11:g.50705121_50705140A[22]CCTAACATAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.48782489_48782501del, NC_000017.10:g.48782492_48782501del, NC_000017.10:g.48782494_48782501del, NC_000017.10:g.48782495_48782501del, NC_000017.10:g.48782496_48782501del, NC_000017.10:g.48782497_48782501del, NC_000017.10:g.48782498_48782501del, NC_000017.10:g.48782499_48782501del, NC_000017.10:g.48782500_48782501del, NC_000017.10:g.48782501del, NC_000017.10:g.48782501dup, NC_000017.10:g.48782500_48782501dup, NC_000017.10:g.48782499_48782501dup, NC_000017.10:g.48782498_48782501dup, NC_000017.10:g.48782482_48782501A[22]CCTAACATAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

          5.

          rs1491184772 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CA>- [Show Flanks]
            Chromosome:
            17:50705120 (GRCh38)
            17:48782481 (GRCh37)
            Canonical SPDI:
            NC_000017.11:50705119:CA:
            Gene:
            ANKRD40 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0./0 (ALFA)
            -=0.00014/4 (GnomAD)
            HGVS:

            6.

            rs1491184443 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              CT>- [Show Flanks]
              Chromosome:
              17:50706125 (GRCh38)
              17:48783486 (GRCh37)
              Canonical SPDI:
              NC_000017.11:50706124:CT:
              Gene:
              ANKRD40 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              -=0./0 (ALFA)
              -=0.000008/2 (TOPMED)
              -=0.000016/2 (GnomAD)
              HGVS:

              7.

              rs1491057517 has merged into rs35024672 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AAAAAAAAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                Chromosome:
                17:50706914 (GRCh38)
                17:48784275 (GRCh37)
                Canonical SPDI:
                NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50706903:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                Gene:
                ANKRD40 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAAAAAAAA=0./0 (ALFA)
                HGVS:
                NC_000017.11:g.50706914_50706932del, NC_000017.11:g.50706915_50706932del, NC_000017.11:g.50706917_50706932del, NC_000017.11:g.50706918_50706932del, NC_000017.11:g.50706919_50706932del, NC_000017.11:g.50706920_50706932del, NC_000017.11:g.50706921_50706932del, NC_000017.11:g.50706922_50706932del, NC_000017.11:g.50706923_50706932del, NC_000017.11:g.50706924_50706932del, NC_000017.11:g.50706925_50706932del, NC_000017.11:g.50706926_50706932del, NC_000017.11:g.50706927_50706932del, NC_000017.11:g.50706928_50706932del, NC_000017.11:g.50706929_50706932del, NC_000017.11:g.50706930_50706932del, NC_000017.11:g.50706931_50706932del, NC_000017.11:g.50706932del, NC_000017.11:g.50706932dup, NC_000017.11:g.50706931_50706932dup, NC_000017.11:g.50706930_50706932dup, NC_000017.11:g.50706929_50706932dup, NC_000017.11:g.50706928_50706932dup, NC_000017.11:g.50706927_50706932dup, NC_000017.11:g.50706926_50706932dup, NC_000017.11:g.50706925_50706932dup, NC_000017.11:g.50706923_50706932dup, NC_000017.11:g.50706922_50706932dup, NC_000017.11:g.50706921_50706932dup, NC_000017.11:g.50706920_50706932dup, NC_000017.11:g.50706919_50706932dup, NC_000017.11:g.50706917_50706932dup, NC_000017.11:g.50706916_50706932dup, NC_000017.11:g.50706915_50706932dup, NC_000017.11:g.50706914_50706932dup, NC_000017.11:g.50706913_50706932dup, NC_000017.11:g.50706912_50706932dup, NC_000017.11:g.50706911_50706932dup, NC_000017.11:g.50706910_50706932dup, NC_000017.11:g.50706909_50706932dup, NC_000017.11:g.50706908_50706932dup, NC_000017.11:g.50706907_50706932dup, NC_000017.11:g.50706906_50706932dup, NC_000017.10:g.48784275_48784293del, NC_000017.10:g.48784276_48784293del, NC_000017.10:g.48784278_48784293del, NC_000017.10:g.48784279_48784293del, NC_000017.10:g.48784280_48784293del, NC_000017.10:g.48784281_48784293del, NC_000017.10:g.48784282_48784293del, NC_000017.10:g.48784283_48784293del, NC_000017.10:g.48784284_48784293del, NC_000017.10:g.48784285_48784293del, NC_000017.10:g.48784286_48784293del, NC_000017.10:g.48784287_48784293del, NC_000017.10:g.48784288_48784293del, NC_000017.10:g.48784289_48784293del, NC_000017.10:g.48784290_48784293del, NC_000017.10:g.48784291_48784293del, NC_000017.10:g.48784292_48784293del, NC_000017.10:g.48784293del, NC_000017.10:g.48784293dup, NC_000017.10:g.48784292_48784293dup, NC_000017.10:g.48784291_48784293dup, NC_000017.10:g.48784290_48784293dup, NC_000017.10:g.48784289_48784293dup, NC_000017.10:g.48784288_48784293dup, NC_000017.10:g.48784287_48784293dup, NC_000017.10:g.48784286_48784293dup, NC_000017.10:g.48784284_48784293dup, NC_000017.10:g.48784283_48784293dup, NC_000017.10:g.48784282_48784293dup, NC_000017.10:g.48784281_48784293dup, NC_000017.10:g.48784280_48784293dup, NC_000017.10:g.48784278_48784293dup, NC_000017.10:g.48784277_48784293dup, NC_000017.10:g.48784276_48784293dup, NC_000017.10:g.48784275_48784293dup, NC_000017.10:g.48784274_48784293dup, NC_000017.10:g.48784273_48784293dup, NC_000017.10:g.48784272_48784293dup, NC_000017.10:g.48784271_48784293dup, NC_000017.10:g.48784270_48784293dup, NC_000017.10:g.48784269_48784293dup, NC_000017.10:g.48784268_48784293dup, NC_000017.10:g.48784267_48784293dup

                8.

                rs1490895403 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  17:50703578 (GRCh38)
                  17:48780939 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:50703577:G:C
                  Gene:
                  ANKRD40 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000019/5 (TOPMED)
                  HGVS:

                  9.

                  rs1490478341 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    17:50694135 (GRCh38)
                    17:48771496 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:50694134:A:G
                    Gene:
                    ANKRD40 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    HGVS:

                    10.

                    rs1490346495 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      17:50709212 (GRCh38)
                      17:48786573 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:50709211:T:C
                      Gene:
                      ANKRD40 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      HGVS:

                      11.

                      rs1490302708 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A,C [Show Flanks]
                        Chromosome:
                        17:50709122 (GRCh38)
                        17:48786483 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:50709121:T:A,NC_000017.11:50709121:T:C
                        Gene:
                        ANKRD40 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        C=0.00021/4 (TOMMO)
                        HGVS:

                        12.

                        rs1490144709 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          17:50701861 (GRCh38)
                          17:48779222 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:50701860:T:A
                          Gene:
                          ANKRD40 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000008/2 (TOPMED)
                          HGVS:

                          13.

                          rs1489926554 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            T>- [Show Flanks]
                            Chromosome:
                            17:50702500 (GRCh38)
                            17:48779861 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:50702499:TT:T
                            Gene:
                            ANKRD40 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            TT=0./0 (ALFA)
                            -=0.000008/2 (TOPMED)
                            HGVS:

                            14.

                            rs1489826915 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              17:50705818 (GRCh38)
                              17:48783179 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:50705817:C:G
                              Gene:
                              ANKRD40 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              HGVS:

                              15.

                              rs1489137474 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                17:50709682 (GRCh38)
                                17:48787043 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:50709681:C:G
                                Gene:
                                ANKRD40 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.000071/1 (ALFA)
                                G=0.000007/1 (GnomAD)
                                G=0.000011/3 (TOPMED)
                                HGVS:

                                16.

                                rs1489070897 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  17:50695482 (GRCh38)
                                  17:48772843 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:50695481:T:C
                                  Gene:
                                  ANKRD40 (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0.000071/1 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1489058853 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A,C [Show Flanks]
                                    Chromosome:
                                    17:50700735 (GRCh38)
                                    17:48778096 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:50700734:T:A,NC_000017.11:50700734:T:C
                                    Gene:
                                    ANKRD40 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1488877837 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      17:50692700 (GRCh38)
                                      17:48770061 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:50692699:C:T
                                      Gene:
                                      ABCC3 (Varview), ANKRD40 (Varview)
                                      Functional Consequence:
                                      downstream_transcript_variant,500B_downstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1488852125 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        17:50706942 (GRCh38)
                                        17:48784303 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:50706941:T:A
                                        Gene:
                                        ANKRD40 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.01225/200 (ALFA)
                                        A=0.00214/36 (TOMMO)
                                        A=0.00985/18 (Korea1K)
                                        A=0.04252/124 (KOREAN)
                                        HGVS:

                                        20.

                                        rs1488696871 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          17:50702583 (GRCh38)
                                          17:48779944 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:50702582:T:C
                                          Gene:
                                          ANKRD40 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:

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