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Items: 1 to 20 of 22831

1.

rs1491540009 has merged into rs542366792 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
    Chromosome:
    21:44018702 (GRCh38)
    21:45438583 (GRCh37)
    Canonical SPDI:
    NC_000021.9:44018691:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000021.9:44018691:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000021.9:44018691:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000021.9:44018691:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000021.9:44018691:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000021.9:44018691:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000021.9:44018691:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000021.9:44018691:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
    Gene:
    TRAPPC10 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAAAA=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    -=0.05012/251 (1000Genomes)
    -=0.225/9 (GENOME_DK)
    HGVS:
    NC_000021.9:g.44018702_44018709del, NC_000021.9:g.44018706_44018709del, NC_000021.9:g.44018707_44018709del, NC_000021.9:g.44018708_44018709del, NC_000021.9:g.44018709del, NC_000021.9:g.44018709dup, NC_000021.9:g.44018708_44018709dup, NC_000021.9:g.44018707_44018709dup, NC_000021.8:g.45438583_45438590del, NC_000021.8:g.45438587_45438590del, NC_000021.8:g.45438588_45438590del, NC_000021.8:g.45438589_45438590del, NC_000021.8:g.45438590del, NC_000021.8:g.45438590dup, NC_000021.8:g.45438589_45438590dup, NC_000021.8:g.45438588_45438590dup, NG_008658.2:g.11395_11402del, NG_008658.2:g.11399_11402del, NG_008658.2:g.11400_11402del, NG_008658.2:g.11401_11402del, NG_008658.2:g.11402del, NG_008658.2:g.11402dup, NG_008658.2:g.11401_11402dup, NG_008658.2:g.11400_11402dup, NG_008658.1:g.11378_11385del, NG_008658.1:g.11382_11385del, NG_008658.1:g.11383_11385del, NG_008658.1:g.11384_11385del, NG_008658.1:g.11385del, NG_008658.1:g.11385dup, NG_008658.1:g.11384_11385dup, NG_008658.1:g.11383_11385dup
    2.

    rs1491530578 has merged into rs67865929 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      21:44081020 (GRCh38)
      21:45500901 (GRCh37)
      Canonical SPDI:
      NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44081017:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      TRAPPC10 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TT=0./0 (ALFA)
      -=0./0 (GENOME_DK)
      HGVS:
      NC_000021.9:g.44081020_44081037del, NC_000021.9:g.44081021_44081037del, NC_000021.9:g.44081022_44081037del, NC_000021.9:g.44081023_44081037del, NC_000021.9:g.44081024_44081037del, NC_000021.9:g.44081025_44081037del, NC_000021.9:g.44081026_44081037del, NC_000021.9:g.44081027_44081037del, NC_000021.9:g.44081028_44081037del, NC_000021.9:g.44081029_44081037del, NC_000021.9:g.44081030_44081037del, NC_000021.9:g.44081031_44081037del, NC_000021.9:g.44081032_44081037del, NC_000021.9:g.44081033_44081037del, NC_000021.9:g.44081034_44081037del, NC_000021.9:g.44081035_44081037del, NC_000021.9:g.44081036_44081037del, NC_000021.9:g.44081037del, NC_000021.9:g.44081037dup, NC_000021.9:g.44081018_44081037T[21]ATTTTTTTTTTTTTTTTTTTT[1], NC_000021.9:g.44081036_44081037dup, NC_000021.9:g.44081035_44081037dup, NC_000021.9:g.44081034_44081037dup, NC_000021.9:g.44081033_44081037dup, NC_000021.9:g.44081032_44081037dup, NC_000021.9:g.44081031_44081037dup, NC_000021.9:g.44081030_44081037dup, NC_000021.9:g.44081029_44081037dup, NC_000021.9:g.44081028_44081037dup, NC_000021.9:g.44081027_44081037dup, NC_000021.9:g.44081026_44081037dup, NC_000021.9:g.44081025_44081037dup, NC_000021.9:g.44081024_44081037dup, NC_000021.9:g.44081023_44081037dup, NC_000021.9:g.44081022_44081037dup, NC_000021.9:g.44081021_44081037dup, NC_000021.9:g.44081020_44081037dup, NC_000021.9:g.44081019_44081037dup, NC_000021.9:g.44081037_44081038insTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.44081037_44081038insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.44081037_44081038insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.44081037_44081038insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.44081037_44081038insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.44081037_44081038insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.45500901_45500918del, NC_000021.8:g.45500902_45500918del, NC_000021.8:g.45500903_45500918del, NC_000021.8:g.45500904_45500918del, NC_000021.8:g.45500905_45500918del, NC_000021.8:g.45500906_45500918del, NC_000021.8:g.45500907_45500918del, NC_000021.8:g.45500908_45500918del, NC_000021.8:g.45500909_45500918del, NC_000021.8:g.45500910_45500918del, NC_000021.8:g.45500911_45500918del, NC_000021.8:g.45500912_45500918del, NC_000021.8:g.45500913_45500918del, NC_000021.8:g.45500914_45500918del, NC_000021.8:g.45500915_45500918del, NC_000021.8:g.45500916_45500918del, NC_000021.8:g.45500917_45500918del, NC_000021.8:g.45500918del, NC_000021.8:g.45500918dup, NC_000021.8:g.45500899_45500918T[21]ATTTTTTTTTTTTTTTTTTTT[1], NC_000021.8:g.45500917_45500918dup, NC_000021.8:g.45500916_45500918dup, NC_000021.8:g.45500915_45500918dup, NC_000021.8:g.45500914_45500918dup, NC_000021.8:g.45500913_45500918dup, NC_000021.8:g.45500912_45500918dup, NC_000021.8:g.45500911_45500918dup, NC_000021.8:g.45500910_45500918dup, NC_000021.8:g.45500909_45500918dup, NC_000021.8:g.45500908_45500918dup, NC_000021.8:g.45500907_45500918dup, NC_000021.8:g.45500906_45500918dup, NC_000021.8:g.45500905_45500918dup, NC_000021.8:g.45500904_45500918dup, NC_000021.8:g.45500903_45500918dup, NC_000021.8:g.45500902_45500918dup, NC_000021.8:g.45500901_45500918dup, NC_000021.8:g.45500900_45500918dup, NC_000021.8:g.45500918_45500919insTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.45500918_45500919insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.45500918_45500919insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.45500918_45500919insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.45500918_45500919insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.45500918_45500919insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008658.2:g.73713_73730del, NG_008658.2:g.73714_73730del, NG_008658.2:g.73715_73730del, NG_008658.2:g.73716_73730del, NG_008658.2:g.73717_73730del, NG_008658.2:g.73718_73730del, NG_008658.2:g.73719_73730del, NG_008658.2:g.73720_73730del, NG_008658.2:g.73721_73730del, NG_008658.2:g.73722_73730del, NG_008658.2:g.73723_73730del, NG_008658.2:g.73724_73730del, NG_008658.2:g.73725_73730del, NG_008658.2:g.73726_73730del, NG_008658.2:g.73727_73730del, NG_008658.2:g.73728_73730del, NG_008658.2:g.73729_73730del, NG_008658.2:g.73730del, NG_008658.2:g.73730dup, NG_008658.2:g.73711_73730T[21]ATTTTTTTTTTTTTTTTTTTT[1], NG_008658.2:g.73729_73730dup, NG_008658.2:g.73728_73730dup, NG_008658.2:g.73727_73730dup, NG_008658.2:g.73726_73730dup, NG_008658.2:g.73725_73730dup, NG_008658.2:g.73724_73730dup, NG_008658.2:g.73723_73730dup, NG_008658.2:g.73722_73730dup, NG_008658.2:g.73721_73730dup, NG_008658.2:g.73720_73730dup, NG_008658.2:g.73719_73730dup, NG_008658.2:g.73718_73730dup, NG_008658.2:g.73717_73730dup, NG_008658.2:g.73716_73730dup, NG_008658.2:g.73715_73730dup, NG_008658.2:g.73714_73730dup, NG_008658.2:g.73713_73730dup, NG_008658.2:g.73712_73730dup, NG_008658.2:g.73730_73731insTTTTTTTTTTTTTTTTTTTTT, NG_008658.2:g.73730_73731insTTTTTTTTTTTTTTTTTTTTTTTT, NG_008658.2:g.73730_73731insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008658.2:g.73730_73731insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008658.2:g.73730_73731insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008658.2:g.73730_73731insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008658.1:g.73696_73713del, NG_008658.1:g.73697_73713del, NG_008658.1:g.73698_73713del, NG_008658.1:g.73699_73713del, NG_008658.1:g.73700_73713del, NG_008658.1:g.73701_73713del, NG_008658.1:g.73702_73713del, NG_008658.1:g.73703_73713del, NG_008658.1:g.73704_73713del, NG_008658.1:g.73705_73713del, NG_008658.1:g.73706_73713del, NG_008658.1:g.73707_73713del, NG_008658.1:g.73708_73713del, NG_008658.1:g.73709_73713del, NG_008658.1:g.73710_73713del, NG_008658.1:g.73711_73713del, NG_008658.1:g.73712_73713del, NG_008658.1:g.73713del, NG_008658.1:g.73713dup, NG_008658.1:g.73694_73713T[21]ATTTTTTTTTTTTTTTTTTTT[1], NG_008658.1:g.73712_73713dup, NG_008658.1:g.73711_73713dup, NG_008658.1:g.73710_73713dup, NG_008658.1:g.73709_73713dup, NG_008658.1:g.73708_73713dup, NG_008658.1:g.73707_73713dup, NG_008658.1:g.73706_73713dup, NG_008658.1:g.73705_73713dup, NG_008658.1:g.73704_73713dup, NG_008658.1:g.73703_73713dup, NG_008658.1:g.73702_73713dup, NG_008658.1:g.73701_73713dup, NG_008658.1:g.73700_73713dup, NG_008658.1:g.73699_73713dup, NG_008658.1:g.73698_73713dup, NG_008658.1:g.73697_73713dup, NG_008658.1:g.73696_73713dup, NG_008658.1:g.73695_73713dup, NG_008658.1:g.73713_73714insTTTTTTTTTTTTTTTTTTTTT, NG_008658.1:g.73713_73714insTTTTTTTTTTTTTTTTTTTTTTTT, NG_008658.1:g.73713_73714insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008658.1:g.73713_73714insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008658.1:g.73713_73714insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008658.1:g.73713_73714insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      3.

      rs1491510614 has merged into rs1028804319 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
        Chromosome:
        21:44023037 (GRCh38)
        21:45442918 (GRCh37)
        Canonical SPDI:
        NC_000021.9:44023025:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000021.9:44023025:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000021.9:44023025:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000021.9:44023025:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000021.9:44023025:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000021.9:44023025:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000021.9:44023025:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000021.9:44023025:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000021.9:44023025:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000021.9:44023025:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000021.9:44023025:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44023025:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44023025:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44023025:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44023025:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44023025:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44023025:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44023025:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44023025:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44023025:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44023025:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44023025:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44023025:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44023025:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44023025:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44023025:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44023025:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44023025:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44023025:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44023025:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
        Gene:
        TRAPPC10 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTTT=0./0 (ALFA)
        HGVS:
        NC_000021.9:g.44023037_44023050del, NC_000021.9:g.44023038_44023050del, NC_000021.9:g.44023039_44023050del, NC_000021.9:g.44023040_44023050del, NC_000021.9:g.44023041_44023050del, NC_000021.9:g.44023042_44023050del, NC_000021.9:g.44023043_44023050del, NC_000021.9:g.44023044_44023050del, NC_000021.9:g.44023045_44023050del, NC_000021.9:g.44023046_44023050del, NC_000021.9:g.44023047_44023050del, NC_000021.9:g.44023048_44023050del, NC_000021.9:g.44023049_44023050del, NC_000021.9:g.44023050del, NC_000021.9:g.44023050dup, NC_000021.9:g.44023049_44023050dup, NC_000021.9:g.44023048_44023050dup, NC_000021.9:g.44023047_44023050dup, NC_000021.9:g.44023046_44023050dup, NC_000021.9:g.44023045_44023050dup, NC_000021.9:g.44023044_44023050dup, NC_000021.9:g.44023043_44023050dup, NC_000021.9:g.44023042_44023050dup, NC_000021.9:g.44023041_44023050dup, NC_000021.9:g.44023040_44023050dup, NC_000021.9:g.44023039_44023050dup, NC_000021.9:g.44023038_44023050dup, NC_000021.9:g.44023035_44023050dup, NC_000021.9:g.44023026_44023050dup, NC_000021.9:g.44023050_44023051insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.45442918_45442931del, NC_000021.8:g.45442919_45442931del, NC_000021.8:g.45442920_45442931del, NC_000021.8:g.45442921_45442931del, NC_000021.8:g.45442922_45442931del, NC_000021.8:g.45442923_45442931del, NC_000021.8:g.45442924_45442931del, NC_000021.8:g.45442925_45442931del, NC_000021.8:g.45442926_45442931del, NC_000021.8:g.45442927_45442931del, NC_000021.8:g.45442928_45442931del, NC_000021.8:g.45442929_45442931del, NC_000021.8:g.45442930_45442931del, NC_000021.8:g.45442931del, NC_000021.8:g.45442931dup, NC_000021.8:g.45442930_45442931dup, NC_000021.8:g.45442929_45442931dup, NC_000021.8:g.45442928_45442931dup, NC_000021.8:g.45442927_45442931dup, NC_000021.8:g.45442926_45442931dup, NC_000021.8:g.45442925_45442931dup, NC_000021.8:g.45442924_45442931dup, NC_000021.8:g.45442923_45442931dup, NC_000021.8:g.45442922_45442931dup, NC_000021.8:g.45442921_45442931dup, NC_000021.8:g.45442920_45442931dup, NC_000021.8:g.45442919_45442931dup, NC_000021.8:g.45442916_45442931dup, NC_000021.8:g.45442907_45442931dup, NC_000021.8:g.45442931_45442932insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008658.2:g.15730_15743del, NG_008658.2:g.15731_15743del, NG_008658.2:g.15732_15743del, NG_008658.2:g.15733_15743del, NG_008658.2:g.15734_15743del, NG_008658.2:g.15735_15743del, NG_008658.2:g.15736_15743del, NG_008658.2:g.15737_15743del, NG_008658.2:g.15738_15743del, NG_008658.2:g.15739_15743del, NG_008658.2:g.15740_15743del, NG_008658.2:g.15741_15743del, NG_008658.2:g.15742_15743del, NG_008658.2:g.15743del, NG_008658.2:g.15743dup, NG_008658.2:g.15742_15743dup, NG_008658.2:g.15741_15743dup, NG_008658.2:g.15740_15743dup, NG_008658.2:g.15739_15743dup, NG_008658.2:g.15738_15743dup, NG_008658.2:g.15737_15743dup, NG_008658.2:g.15736_15743dup, NG_008658.2:g.15735_15743dup, NG_008658.2:g.15734_15743dup, NG_008658.2:g.15733_15743dup, NG_008658.2:g.15732_15743dup, NG_008658.2:g.15731_15743dup, NG_008658.2:g.15728_15743dup, NG_008658.2:g.15719_15743dup, NG_008658.2:g.15743_15744insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008658.1:g.15713_15726del, NG_008658.1:g.15714_15726del, NG_008658.1:g.15715_15726del, NG_008658.1:g.15716_15726del, NG_008658.1:g.15717_15726del, NG_008658.1:g.15718_15726del, NG_008658.1:g.15719_15726del, NG_008658.1:g.15720_15726del, NG_008658.1:g.15721_15726del, NG_008658.1:g.15722_15726del, NG_008658.1:g.15723_15726del, NG_008658.1:g.15724_15726del, NG_008658.1:g.15725_15726del, NG_008658.1:g.15726del, NG_008658.1:g.15726dup, NG_008658.1:g.15725_15726dup, NG_008658.1:g.15724_15726dup, NG_008658.1:g.15723_15726dup, NG_008658.1:g.15722_15726dup, NG_008658.1:g.15721_15726dup, NG_008658.1:g.15720_15726dup, NG_008658.1:g.15719_15726dup, NG_008658.1:g.15718_15726dup, NG_008658.1:g.15717_15726dup, NG_008658.1:g.15716_15726dup, NG_008658.1:g.15715_15726dup, NG_008658.1:g.15714_15726dup, NG_008658.1:g.15711_15726dup, NG_008658.1:g.15702_15726dup, NG_008658.1:g.15726_15727insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
        4.

        rs1491504090 [Homo sapiens]
          Variant type:
          SNV:
          Alleles:
          ->TA
          Chromosome:
          no mapping
          Canonical SPDI:
          5.

          rs1491489360 [Homo sapiens]
            Variant type:
            SNV:
            Alleles:
            ->CTT
            Chromosome:
            no mapping
            Canonical SPDI:
            6.

            rs1491447961 [Homo sapiens]
              Variant type:
              INS
              Alleles:
              ->C [Show Flanks]
              Chromosome:
              21:44040349 (GRCh38)
              21:45460231 (GRCh37)
              Canonical SPDI:
              NC_000021.9:44040349::C
              Gene:
              TRAPPC10 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000038/10 (TOPMED)
              HGVS:
              7.

              rs1491442556 [Homo sapiens]
                Variant type:
                SNV:
                Alleles:
                ->TTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT
                Chromosome:
                no mapping
                Canonical SPDI:
                8.

                rs1491428642 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  AC>- [Show Flanks]
                  Chromosome:
                  21:44034332 (GRCh38)
                  21:45454213 (GRCh37)
                  Canonical SPDI:
                  NC_000021.9:44034331:AC:
                  Gene:
                  TRAPPC10 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  -=0.00008/1 (ALFA)
                  -=0.0003/7 (GnomAD)
                  -=0.00036/10 (TOMMO)
                  HGVS:
                  9.

                  rs1491424272 [Homo sapiens]
                    Variant type:
                    SNV:
                    Alleles:
                    TT>-
                    Chromosome:
                    no mapping
                    Canonical SPDI:
                    10.

                    rs1491392562 [Homo sapiens]
                      Variant type:
                      SNV:
                      Alleles:
                      ->TTCTTTTTTTTTTTTTTTTTTT
                      Chromosome:
                      no mapping
                      Canonical SPDI:
                      11.

                      rs1491392056 has merged into rs34708259 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        TTTTTTTTTTTTTTTT>-,TTTT,TTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                        Chromosome:
                        21:44043216 (GRCh38)
                        21:45463097 (GRCh37)
                        Canonical SPDI:
                        NC_000021.9:44043209:TTTTTTTTTTTTTTTTTTTTTT:TTTTTT,NC_000021.9:44043209:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000021.9:44043209:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000021.9:44043209:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000021.9:44043209:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000021.9:44043209:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000021.9:44043209:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000021.9:44043209:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000021.9:44043209:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000021.9:44043209:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44043209:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44043209:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44043209:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44043209:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44043209:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44043209:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44043209:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44043209:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                        Gene:
                        TRAPPC10 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TTTTTT=0./0 (ALFA)
                        -=0.000011/3 (TOPMED)
                        -=0.388978/1948 (1000Genomes)
                        HGVS:
                        NC_000021.9:g.44043216_44043231del, NC_000021.9:g.44043220_44043231del, NC_000021.9:g.44043222_44043231del, NC_000021.9:g.44043225_44043231del, NC_000021.9:g.44043226_44043231del, NC_000021.9:g.44043227_44043231del, NC_000021.9:g.44043228_44043231del, NC_000021.9:g.44043229_44043231del, NC_000021.9:g.44043230_44043231del, NC_000021.9:g.44043231del, NC_000021.9:g.44043231dup, NC_000021.9:g.44043230_44043231dup, NC_000021.9:g.44043229_44043231dup, NC_000021.9:g.44043228_44043231dup, NC_000021.9:g.44043227_44043231dup, NC_000021.9:g.44043226_44043231dup, NC_000021.9:g.44043224_44043231dup, NC_000021.9:g.44043231_44043232insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.45463097_45463112del, NC_000021.8:g.45463101_45463112del, NC_000021.8:g.45463103_45463112del, NC_000021.8:g.45463106_45463112del, NC_000021.8:g.45463107_45463112del, NC_000021.8:g.45463108_45463112del, NC_000021.8:g.45463109_45463112del, NC_000021.8:g.45463110_45463112del, NC_000021.8:g.45463111_45463112del, NC_000021.8:g.45463112del, NC_000021.8:g.45463112dup, NC_000021.8:g.45463111_45463112dup, NC_000021.8:g.45463110_45463112dup, NC_000021.8:g.45463109_45463112dup, NC_000021.8:g.45463108_45463112dup, NC_000021.8:g.45463107_45463112dup, NC_000021.8:g.45463105_45463112dup, NC_000021.8:g.45463112_45463113insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008658.2:g.35909_35924del, NG_008658.2:g.35913_35924del, NG_008658.2:g.35915_35924del, NG_008658.2:g.35918_35924del, NG_008658.2:g.35919_35924del, NG_008658.2:g.35920_35924del, NG_008658.2:g.35921_35924del, NG_008658.2:g.35922_35924del, NG_008658.2:g.35923_35924del, NG_008658.2:g.35924del, NG_008658.2:g.35924dup, NG_008658.2:g.35923_35924dup, NG_008658.2:g.35922_35924dup, NG_008658.2:g.35921_35924dup, NG_008658.2:g.35920_35924dup, NG_008658.2:g.35919_35924dup, NG_008658.2:g.35917_35924dup, NG_008658.2:g.35924_35925insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008658.1:g.35892_35907del, NG_008658.1:g.35896_35907del, NG_008658.1:g.35898_35907del, NG_008658.1:g.35901_35907del, NG_008658.1:g.35902_35907del, NG_008658.1:g.35903_35907del, NG_008658.1:g.35904_35907del, NG_008658.1:g.35905_35907del, NG_008658.1:g.35906_35907del, NG_008658.1:g.35907del, NG_008658.1:g.35907dup, NG_008658.1:g.35906_35907dup, NG_008658.1:g.35905_35907dup, NG_008658.1:g.35904_35907dup, NG_008658.1:g.35903_35907dup, NG_008658.1:g.35902_35907dup, NG_008658.1:g.35900_35907dup, NG_008658.1:g.35907_35908insTTTTTTTTTTTTTTTTTTTTTTTTTTT
                        12.

                        rs1491372579 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->ATGT,ATGTGTGTGT,ATGTGTGTGTGTGTGTGTGT,ATGTGTGTGTGTGTGTGTGTGT,ATGTGTGTGTGTGTGTGTGTGTGT,ATGTGTGTGTGTGTGTGTGTGTGTGT,ATGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
                          Chromosome:
                          21:44047532 (GRCh38)
                          21:45467414 (GRCh37)
                          Canonical SPDI:
                          NC_000021.9:44047532:T:TATGT,NC_000021.9:44047532:T:TATGTGTGTGT,NC_000021.9:44047532:T:TATGTGTGTGTGTGTGTGTGT,NC_000021.9:44047532:T:TATGTGTGTGTGTGTGTGTGTGT,NC_000021.9:44047532:T:TATGTGTGTGTGTGTGTGTGTGTGT,NC_000021.9:44047532:T:TATGTGTGTGTGTGTGTGTGTGTGTGT,NC_000021.9:44047532:T:TATGTGTGTGTGTGTGTGTGTGTGTGTGT
                          Gene:
                          TRAPPC10 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TATGTGTGTGT=0./0 (ALFA)
                          TATGTGTGTGTGTGTGTGTG=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000021.9:g.44047533_44047534insATGT, NC_000021.9:g.44047533_44047534insATGTGTGTGT, NC_000021.9:g.44047533_44047534insATGTGTGTGTGTGTGTGTGT, NC_000021.9:g.44047533_44047534insATGTGTGTGTGTGTGTGTGTGT, NC_000021.9:g.44047533_44047534insATGTGTGTGTGTGTGTGTGTGTGT, NC_000021.9:g.44047533_44047534insATGTGTGTGTGTGTGTGTGTGTGTGT, NC_000021.9:g.44047533_44047534insATGTGTGTGTGTGTGTGTGTGTGTGTGT, NC_000021.8:g.45467414_45467415insATGT, NC_000021.8:g.45467414_45467415insATGTGTGTGT, NC_000021.8:g.45467414_45467415insATGTGTGTGTGTGTGTGTGT, NC_000021.8:g.45467414_45467415insATGTGTGTGTGTGTGTGTGTGT, NC_000021.8:g.45467414_45467415insATGTGTGTGTGTGTGTGTGTGTGT, NC_000021.8:g.45467414_45467415insATGTGTGTGTGTGTGTGTGTGTGTGT, NC_000021.8:g.45467414_45467415insATGTGTGTGTGTGTGTGTGTGTGTGTGT, NG_008658.2:g.40226_40227insATGT, NG_008658.2:g.40226_40227insATGTGTGTGT, NG_008658.2:g.40226_40227insATGTGTGTGTGTGTGTGTGT, NG_008658.2:g.40226_40227insATGTGTGTGTGTGTGTGTGTGT, NG_008658.2:g.40226_40227insATGTGTGTGTGTGTGTGTGTGTGT, NG_008658.2:g.40226_40227insATGTGTGTGTGTGTGTGTGTGTGTGT, NG_008658.2:g.40226_40227insATGTGTGTGTGTGTGTGTGTGTGTGTGT, NG_008658.1:g.40209_40210insATGT, NG_008658.1:g.40209_40210insATGTGTGTGT, NG_008658.1:g.40209_40210insATGTGTGTGTGTGTGTGTGT, NG_008658.1:g.40209_40210insATGTGTGTGTGTGTGTGTGTGT, NG_008658.1:g.40209_40210insATGTGTGTGTGTGTGTGTGTGTGT, NG_008658.1:g.40209_40210insATGTGTGTGTGTGTGTGTGTGTGTGT, NG_008658.1:g.40209_40210insATGTGTGTGTGTGTGTGTGTGTGTGTGT
                          13.

                          rs1491366466 has merged into rs58767563 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                            Chromosome:
                            21:44022288 (GRCh38)
                            21:45442169 (GRCh37)
                            Canonical SPDI:
                            NC_000021.9:44022276:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000021.9:44022276:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000021.9:44022276:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000021.9:44022276:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000021.9:44022276:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000021.9:44022276:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000021.9:44022276:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000021.9:44022276:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000021.9:44022276:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000021.9:44022276:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000021.9:44022276:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44022276:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44022276:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44022276:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44022276:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44022276:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44022276:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44022276:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44022276:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44022276:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44022276:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44022276:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:44022276:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                            Gene:
                            TRAPPC10 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TTTTTTTTTTT=0./0 (ALFA)
                            -=0.4407/2207 (1000Genomes)
                            HGVS:
                            NC_000021.9:g.44022288_44022300del, NC_000021.9:g.44022289_44022300del, NC_000021.9:g.44022290_44022300del, NC_000021.9:g.44022291_44022300del, NC_000021.9:g.44022292_44022300del, NC_000021.9:g.44022293_44022300del, NC_000021.9:g.44022294_44022300del, NC_000021.9:g.44022295_44022300del, NC_000021.9:g.44022296_44022300del, NC_000021.9:g.44022297_44022300del, NC_000021.9:g.44022298_44022300del, NC_000021.9:g.44022299_44022300del, NC_000021.9:g.44022300del, NC_000021.9:g.44022300dup, NC_000021.9:g.44022299_44022300dup, NC_000021.9:g.44022298_44022300dup, NC_000021.9:g.44022297_44022300dup, NC_000021.9:g.44022296_44022300dup, NC_000021.9:g.44022295_44022300dup, NC_000021.9:g.44022294_44022300dup, NC_000021.9:g.44022293_44022300dup, NC_000021.9:g.44022291_44022300dup, NC_000021.9:g.44022300_44022301insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.45442169_45442181del, NC_000021.8:g.45442170_45442181del, NC_000021.8:g.45442171_45442181del, NC_000021.8:g.45442172_45442181del, NC_000021.8:g.45442173_45442181del, NC_000021.8:g.45442174_45442181del, NC_000021.8:g.45442175_45442181del, NC_000021.8:g.45442176_45442181del, NC_000021.8:g.45442177_45442181del, NC_000021.8:g.45442178_45442181del, NC_000021.8:g.45442179_45442181del, NC_000021.8:g.45442180_45442181del, NC_000021.8:g.45442181del, NC_000021.8:g.45442181dup, NC_000021.8:g.45442180_45442181dup, NC_000021.8:g.45442179_45442181dup, NC_000021.8:g.45442178_45442181dup, NC_000021.8:g.45442177_45442181dup, NC_000021.8:g.45442176_45442181dup, NC_000021.8:g.45442175_45442181dup, NC_000021.8:g.45442174_45442181dup, NC_000021.8:g.45442172_45442181dup, NC_000021.8:g.45442181_45442182insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008658.2:g.14981_14993del, NG_008658.2:g.14982_14993del, NG_008658.2:g.14983_14993del, NG_008658.2:g.14984_14993del, NG_008658.2:g.14985_14993del, NG_008658.2:g.14986_14993del, NG_008658.2:g.14987_14993del, NG_008658.2:g.14988_14993del, NG_008658.2:g.14989_14993del, NG_008658.2:g.14990_14993del, NG_008658.2:g.14991_14993del, NG_008658.2:g.14992_14993del, NG_008658.2:g.14993del, NG_008658.2:g.14993dup, NG_008658.2:g.14992_14993dup, NG_008658.2:g.14991_14993dup, NG_008658.2:g.14990_14993dup, NG_008658.2:g.14989_14993dup, NG_008658.2:g.14988_14993dup, NG_008658.2:g.14987_14993dup, NG_008658.2:g.14986_14993dup, NG_008658.2:g.14984_14993dup, NG_008658.2:g.14993_14994insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008658.1:g.14964_14976del, NG_008658.1:g.14965_14976del, NG_008658.1:g.14966_14976del, NG_008658.1:g.14967_14976del, NG_008658.1:g.14968_14976del, NG_008658.1:g.14969_14976del, NG_008658.1:g.14970_14976del, NG_008658.1:g.14971_14976del, NG_008658.1:g.14972_14976del, NG_008658.1:g.14973_14976del, NG_008658.1:g.14974_14976del, NG_008658.1:g.14975_14976del, NG_008658.1:g.14976del, NG_008658.1:g.14976dup, NG_008658.1:g.14975_14976dup, NG_008658.1:g.14974_14976dup, NG_008658.1:g.14973_14976dup, NG_008658.1:g.14972_14976dup, NG_008658.1:g.14971_14976dup, NG_008658.1:g.14970_14976dup, NG_008658.1:g.14969_14976dup, NG_008658.1:g.14967_14976dup, NG_008658.1:g.14976_14977insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                            14.

                            rs1491363008 has merged into rs34848979 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC [Show Flanks]
                              Chromosome:
                              21:44060932 (GRCh38)
                              21:45480813 (GRCh37)
                              Canonical SPDI:
                              NC_000021.9:44060915:ACACACACACACACACACACACACACACACAC:ACACACACACACACAC,NC_000021.9:44060915:ACACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000021.9:44060915:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000021.9:44060915:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000021.9:44060915:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000021.9:44060915:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000021.9:44060915:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000021.9:44060915:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000021.9:44060915:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000021.9:44060915:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000021.9:44060915:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000021.9:44060915:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000021.9:44060915:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000021.9:44060915:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000021.9:44060915:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000021.9:44060915:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000021.9:44060915:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000021.9:44060915:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000021.9:44060915:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000021.9:44060915:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000021.9:44060915:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
                              Gene:
                              TRAPPC10 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              ACACACACACACACACAC=0./0 (ALFA)
                              -=0.013038/3451 (TOPMED)
                              AC=0.118409/1981 (TOMMO)
                              HGVS:
                              NC_000021.9:g.44060916AC[8], NC_000021.9:g.44060916AC[9], NC_000021.9:g.44060916AC[10], NC_000021.9:g.44060916AC[11], NC_000021.9:g.44060916AC[12], NC_000021.9:g.44060916AC[13], NC_000021.9:g.44060916AC[14], NC_000021.9:g.44060916AC[15], NC_000021.9:g.44060916AC[17], NC_000021.9:g.44060916AC[18], NC_000021.9:g.44060916AC[19], NC_000021.9:g.44060916AC[20], NC_000021.9:g.44060916AC[21], NC_000021.9:g.44060916AC[22], NC_000021.9:g.44060916AC[23], NC_000021.9:g.44060916AC[24], NC_000021.9:g.44060916AC[25], NC_000021.9:g.44060916AC[26], NC_000021.9:g.44060916AC[27], NC_000021.9:g.44060916AC[28], NC_000021.9:g.44060916AC[29], NC_000021.8:g.45480797AC[8], NC_000021.8:g.45480797AC[9], NC_000021.8:g.45480797AC[10], NC_000021.8:g.45480797AC[11], NC_000021.8:g.45480797AC[12], NC_000021.8:g.45480797AC[13], NC_000021.8:g.45480797AC[14], NC_000021.8:g.45480797AC[15], NC_000021.8:g.45480797AC[17], NC_000021.8:g.45480797AC[18], NC_000021.8:g.45480797AC[19], NC_000021.8:g.45480797AC[20], NC_000021.8:g.45480797AC[21], NC_000021.8:g.45480797AC[22], NC_000021.8:g.45480797AC[23], NC_000021.8:g.45480797AC[24], NC_000021.8:g.45480797AC[25], NC_000021.8:g.45480797AC[26], NC_000021.8:g.45480797AC[27], NC_000021.8:g.45480797AC[28], NC_000021.8:g.45480797AC[29], NG_008658.2:g.53609AC[8], NG_008658.2:g.53609AC[9], NG_008658.2:g.53609AC[10], NG_008658.2:g.53609AC[11], NG_008658.2:g.53609AC[12], NG_008658.2:g.53609AC[13], NG_008658.2:g.53609AC[14], NG_008658.2:g.53609AC[15], NG_008658.2:g.53609AC[17], NG_008658.2:g.53609AC[18], NG_008658.2:g.53609AC[19], NG_008658.2:g.53609AC[20], NG_008658.2:g.53609AC[21], NG_008658.2:g.53609AC[22], NG_008658.2:g.53609AC[23], NG_008658.2:g.53609AC[24], NG_008658.2:g.53609AC[25], NG_008658.2:g.53609AC[26], NG_008658.2:g.53609AC[27], NG_008658.2:g.53609AC[28], NG_008658.2:g.53609AC[29], NG_008658.1:g.53592AC[8], NG_008658.1:g.53592AC[9], NG_008658.1:g.53592AC[10], NG_008658.1:g.53592AC[11], NG_008658.1:g.53592AC[12], NG_008658.1:g.53592AC[13], NG_008658.1:g.53592AC[14], NG_008658.1:g.53592AC[15], NG_008658.1:g.53592AC[17], NG_008658.1:g.53592AC[18], NG_008658.1:g.53592AC[19], NG_008658.1:g.53592AC[20], NG_008658.1:g.53592AC[21], NG_008658.1:g.53592AC[22], NG_008658.1:g.53592AC[23], NG_008658.1:g.53592AC[24], NG_008658.1:g.53592AC[25], NG_008658.1:g.53592AC[26], NG_008658.1:g.53592AC[27], NG_008658.1:g.53592AC[28], NG_008658.1:g.53592AC[29]
                              15.

                              rs1491359907 [Homo sapiens]
                                Variant type:
                                INS
                                Alleles:
                                ->GCCTGGCTAA,GCCTGGCTAAA [Show Flanks]
                                Chromosome:
                                21:44022277 (GRCh38)
                                21:45442159 (GRCh37)
                                Canonical SPDI:
                                NC_000021.9:44022277::GCCTGGCTAA,NC_000021.9:44022277::GCCTGGCTAAA
                                Gene:
                                TRAPPC10 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                GCCTGGCTAAA=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1491353167 has merged into rs58154844 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  GCGC>-,GC,GCGCGC,GCGCGCGC,GCGCGCGCGC,GCGCGCGCGCGC [Show Flanks]
                                  Chromosome:
                                  21:44047568 (GRCh38)
                                  21:45467449 (GRCh37)
                                  Canonical SPDI:
                                  NC_000021.9:44047565:GCGCGC:GC,NC_000021.9:44047565:GCGCGC:GCGC,NC_000021.9:44047565:GCGCGC:GCGCGCGC,NC_000021.9:44047565:GCGCGC:GCGCGCGCGC,NC_000021.9:44047565:GCGCGC:GCGCGCGCGCGC,NC_000021.9:44047565:GCGCGC:GCGCGCGCGCGCGC
                                  Gene:
                                  TRAPPC10 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  GC=0./0 (ALFA)
                                  GC=0.00328/6 (Korea1K)
                                  HGVS:
                                  17.

                                  rs1491347284 has merged into rs1370380711 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    AG>-,AGAG [Show Flanks]
                                    Chromosome:
                                    21:44064340 (GRCh38)
                                    21:45484221 (GRCh37)
                                    Canonical SPDI:
                                    NC_000021.9:44064338:GAG:G,NC_000021.9:44064338:GAG:GAGAG
                                    Gene:
                                    TRAPPC10 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.00032/6 (ALFA)
                                    -=0.00109/2 (Korea1K)
                                    -=0.00167/1 (NorthernSweden)
                                    -=0.01402/3 (Vietnamese)
                                    HGVS:
                                    18.

                                    rs1491335803 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->CTTTTTTTTT [Show Flanks]
                                      Chromosome:
                                      21:44081006 (GRCh38)
                                      21:45500888 (GRCh37)
                                      Canonical SPDI:
                                      NC_000021.9:44081006:TTTTTTTTT:TTTTTTTTTCTTTTTTTTT
                                      Gene:
                                      TRAPPC10 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      TTTTTTTTTCTTTTTTTTT=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1491333351 has merged into rs374885797 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        CTCTCT>-,CT,CTCT,CTCTCTCT,CTCTCTCTCT [Show Flanks]
                                        Chromosome:
                                        21:44057301 (GRCh38)
                                        21:45477182 (GRCh37)
                                        Canonical SPDI:
                                        NC_000021.9:44057289:TCTCTCTCTCTCTCTCT:TCTCTCTCTCT,NC_000021.9:44057289:TCTCTCTCTCTCTCTCT:TCTCTCTCTCTCT,NC_000021.9:44057289:TCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCT,NC_000021.9:44057289:TCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT,NC_000021.9:44057289:TCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT
                                        Gene:
                                        TRAPPC10 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        TCTCTCTCTCTCT=0./0 (ALFA)
                                        TCTC=0.000004/1 (TOPMED)
                                        -=0.007987/40 (1000Genomes)
                                        HGVS:
                                        20.

                                        rs1491287163 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          TT>- [Show Flanks]
                                          Chromosome:
                                          21:44057289 (GRCh38)
                                          21:45477170 (GRCh37)
                                          Canonical SPDI:
                                          NC_000021.9:44057288:TT:
                                          Gene:
                                          TRAPPC10 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          -=0.000071/1 (ALFA)
                                          -=0.000004/1 (TOPMED)
                                          -=0.000007/1 (GnomAD)
                                          HGVS:

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