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Items: 1 to 20 of 19889

1.

rs1491577279 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    11:113829824 (GRCh38)
    11:113700546 (GRCh37)
    Canonical SPDI:
    NC_000011.10:113829823:CA:
    Gene:
    USP28 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0.00059/7 (ALFA)
    -=0.00106/30 (TOMMO)
    HGVS:
    2.

    rs1491532149 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GT>- [Show Flanks]
      Chromosome:
      11:113798092 (GRCh38)
      11:113668814 (GRCh37)
      Canonical SPDI:
      NC_000011.10:113798090:TGT:T
      Gene:
      USP28 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      HGVS:
      NC_000011.10:g.113798092_113798093del, NC_000011.9:g.113668814_113668815del, NG_051668.1:g.82479_82480del, NM_001346252.4:c.*1148_*1149del, NM_001346252.3:c.*1148_*1149del, NM_001346252.2:c.*1148_*1149del, NM_001346252.1:c.*1148_*1149del, NM_020886.4:c.*1148_*1149del, NM_020886.3:c.*1148_*1149del, NM_020886.2:c.*1148_*1149del, NM_001346270.2:c.*1148_*1149del, NM_001346270.1:c.*1148_*1149del, NM_001346255.2:c.*1148_*1149del, NM_001346255.1:c.*1148_*1149del, NM_001346265.2:c.*1148_*1149del, NM_001346265.1:c.*1148_*1149del, NM_001346263.2:c.*1148_*1149del, NM_001346263.1:c.*1148_*1149del, NM_001346253.2:c.*1148_*1149del, NM_001346253.1:c.*1148_*1149del, NM_001346271.2:c.*1148_*1149del, NM_001346271.1:c.*1148_*1149del, NM_001346264.2:c.*1148_*1149del, NM_001346264.1:c.*1148_*1149del, NM_001346254.2:c.*1148_*1149del, NM_001346254.1:c.*1148_*1149del, NM_001346257.2:c.*1148_*1149del, NM_001346257.1:c.*1148_*1149del, NM_001346258.2:c.*1148_*1149del, NM_001346258.1:c.*1148_*1149del, NM_001346269.2:c.*1148_*1149del, NM_001346269.1:c.*1148_*1149del, NM_001346267.2:c.*1148_*1149del, NM_001346267.1:c.*1148_*1149del, NM_001346259.2:c.*1148_*1149del, NM_001346259.1:c.*1148_*1149del, NM_001346260.2:c.*1148_*1149del, NM_001346260.1:c.*1148_*1149del, NM_001346261.2:c.*1148_*1149del, NM_001346261.1:c.*1148_*1149del, NM_001346272.2:c.*1148_*1149del, NM_001346272.1:c.*1148_*1149del, NM_001346262.2:c.*1148_*1149del, NM_001346262.1:c.*1148_*1149del, NM_001301029.2:c.*1148_*1149del, NM_001301029.1:c.*1148_*1149del, NM_001346268.2:c.*1148_*1149del, NM_001346268.1:c.*1148_*1149del, NM_001400797.1:c.*1148_*1149del, NM_001400796.1:c.*1148_*1149del, NM_001400804.1:c.*1148_*1149del, NM_001400785.1:c.*1148_*1149del, NM_001400795.1:c.*1148_*1149del, NM_001400812.1:c.*1148_*1149del, NM_001400784.1:c.*1148_*1149del, NM_001400786.1:c.*1148_*1149del, NM_001400811.1:c.*1148_*1149del, NM_001400806.1:c.*1148_*1149del, NM_001400805.1:c.*1148_*1149del, NM_001400787.1:c.*1148_*1149del, NM_001400788.1:c.*1148_*1149del, NM_001400803.1:c.*1148_*1149del, NM_001400789.1:c.*1148_*1149del, NM_001400790.1:c.*1148_*1149del, NM_001400791.1:c.*1148_*1149del, NM_001400802.1:c.*1148_*1149del, NM_001400792.1:c.*1148_*1149del, NM_001400810.1:c.*1148_*1149del, NM_001400800.1:c.*1148_*1149del, NM_001400793.1:c.*1148_*1149del, NM_001400813.1:c.*1148_*1149del, NM_001400809.1:c.*1148_*1149del, NM_001400807.1:c.*1148_*1149del, NM_001400801.1:c.*1148_*1149del, NR_174609.1:n.3991_3992del, NM_001400799.1:c.*1148_*1149del
      3.

      rs1491447320 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        AT>- [Show Flanks]
        Chromosome:
        11:113826337 (GRCh38)
        11:113697059 (GRCh37)
        Canonical SPDI:
        NC_000011.10:113826336:AT:
        Gene:
        USP28 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0.001855/22 (ALFA)
        -=0.00214/228 (GnomAD)
        HGVS:
        4.

        rs1491407216 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          GA>-,GAGA [Show Flanks]
          Chromosome:
          11:113826298 (GRCh38)
          11:113697020 (GRCh37)
          Canonical SPDI:
          NC_000011.10:113826296:AGA:A,NC_000011.10:113826296:AGA:AGAGA
          Gene:
          USP28 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          AGAGA=0./0 (ALFA)
          HGVS:
          5.

          rs1491406082 has merged into rs201539318 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            GC>-,GCGC,GCGCGC [Show Flanks]
            Chromosome:
            11:113877916 (GRCh38)
            11:113748638 (GRCh37)
            Canonical SPDI:
            NC_000011.10:113877914:CGC:C,NC_000011.10:113877914:CGC:CGCGC,NC_000011.10:113877914:CGC:CGCGCGC
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            CGCGC=0.01483/224 (ALFA)
            CG=0.00007/1 (TOMMO)
            CG=0.00055/1 (Korea1K)
            CG=0.02167/13 (NorthernSweden)
            CGCG=0.02496/125 (1000Genomes)
            CG=0.05029/225 (Estonian)
            CG=0.06012/60 (GoNL)
            HGVS:
            6.

            rs1491378384 [Homo sapiens]
              Variant type:
              SNV:
              Alleles:
              ->C
              Chromosome:
              no mapping
              Canonical SPDI:
              7.

              rs1491372986 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AT>- [Show Flanks]
                Chromosome:
                11:113814004 (GRCh38)
                11:113684726 (GRCh37)
                Canonical SPDI:
                NC_000011.10:113814002:TAT:T
                Gene:
                USP28 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency
                MAF:
                -=0.000005/1 (GnomAD_exomes)
                -=0.000011/1 (ExAC)
                HGVS:
                8.

                rs1491233865 [Homo sapiens]
                  Variant type:
                  INS
                  Alleles:
                  ->T [Show Flanks]
                  Chromosome:
                  11:113842272 (GRCh38)
                  11:113712995 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:113842272::T
                  Gene:
                  USP28 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000011/3 (TOPMED)
                  T=0.000017/2 (GnomAD)
                  HGVS:
                  9.

                  rs1491227766 has merged into rs71063530 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
                    Chromosome:
                    11:113878111 (GRCh38)
                    11:113748833 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:113878101:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000011.10:113878101:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:113878101:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:113878101:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:113878101:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:113878101:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:113878101:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:113878101:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:113878101:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:113878101:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:113878101:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:113878101:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:113878101:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:113878101:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:113878101:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:113878101:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:113878101:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TTTTTTTTTTT=0./0 (ALFA)
                    -=0.000004/1 (TOPMED)
                    T=0.460663/2307 (1000Genomes)
                    HGVS:
                    NC_000011.10:g.113878111_113878120del, NC_000011.10:g.113878113_113878120del, NC_000011.10:g.113878114_113878120del, NC_000011.10:g.113878115_113878120del, NC_000011.10:g.113878116_113878120del, NC_000011.10:g.113878117_113878120del, NC_000011.10:g.113878118_113878120del, NC_000011.10:g.113878119_113878120del, NC_000011.10:g.113878120del, NC_000011.10:g.113878120dup, NC_000011.10:g.113878119_113878120dup, NC_000011.10:g.113878118_113878120dup, NC_000011.10:g.113878117_113878120dup, NC_000011.10:g.113878116_113878120dup, NC_000011.10:g.113878115_113878120dup, NC_000011.10:g.113878114_113878120dup, NC_000011.10:g.113878113_113878120dup, NC_000011.9:g.113748833_113748842del, NC_000011.9:g.113748835_113748842del, NC_000011.9:g.113748836_113748842del, NC_000011.9:g.113748837_113748842del, NC_000011.9:g.113748838_113748842del, NC_000011.9:g.113748839_113748842del, NC_000011.9:g.113748840_113748842del, NC_000011.9:g.113748841_113748842del, NC_000011.9:g.113748842del, NC_000011.9:g.113748842dup, NC_000011.9:g.113748841_113748842dup, NC_000011.9:g.113748840_113748842dup, NC_000011.9:g.113748839_113748842dup, NC_000011.9:g.113748838_113748842dup, NC_000011.9:g.113748837_113748842dup, NC_000011.9:g.113748836_113748842dup, NC_000011.9:g.113748835_113748842dup, NG_051668.1:g.2460_2469del, NG_051668.1:g.2462_2469del, NG_051668.1:g.2463_2469del, NG_051668.1:g.2464_2469del, NG_051668.1:g.2465_2469del, NG_051668.1:g.2466_2469del, NG_051668.1:g.2467_2469del, NG_051668.1:g.2468_2469del, NG_051668.1:g.2469del, NG_051668.1:g.2469dup, NG_051668.1:g.2468_2469dup, NG_051668.1:g.2467_2469dup, NG_051668.1:g.2466_2469dup, NG_051668.1:g.2465_2469dup, NG_051668.1:g.2464_2469dup, NG_051668.1:g.2463_2469dup, NG_051668.1:g.2462_2469dup
                    10.

                    rs1491190209 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->G [Show Flanks]
                      Chromosome:
                      11:113798091 (GRCh38)
                      11:113668814 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:113798091:G:GG
                      Gene:
                      USP28 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      GG=0./0 (ALFA)
                      G=0.00025/21 (GnomAD)
                      HGVS:
                      NC_000011.10:g.113798092dup, NC_000011.9:g.113668814dup, NG_051668.1:g.82479dup, NM_001346252.4:c.*1148dup, NM_001346252.3:c.*1148dup, NM_001346252.2:c.*1148dup, NM_001346252.1:c.*1148dup, NM_020886.4:c.*1148dup, NM_020886.3:c.*1148dup, NM_020886.2:c.*1148dup, NM_001346270.2:c.*1148dup, NM_001346270.1:c.*1148dup, NM_001346255.2:c.*1148dup, NM_001346255.1:c.*1148dup, NM_001346265.2:c.*1148dup, NM_001346265.1:c.*1148dup, NM_001346263.2:c.*1148dup, NM_001346263.1:c.*1148dup, NM_001346253.2:c.*1148dup, NM_001346253.1:c.*1148dup, NM_001346271.2:c.*1148dup, NM_001346271.1:c.*1148dup, NM_001346264.2:c.*1148dup, NM_001346264.1:c.*1148dup, NM_001346254.2:c.*1148dup, NM_001346254.1:c.*1148dup, NM_001346257.2:c.*1148dup, NM_001346257.1:c.*1148dup, NM_001346258.2:c.*1148dup, NM_001346258.1:c.*1148dup, NM_001346269.2:c.*1148dup, NM_001346269.1:c.*1148dup, NM_001346267.2:c.*1148dup, NM_001346267.1:c.*1148dup, NM_001346259.2:c.*1148dup, NM_001346259.1:c.*1148dup, NM_001346260.2:c.*1148dup, NM_001346260.1:c.*1148dup, NM_001346261.2:c.*1148dup, NM_001346261.1:c.*1148dup, NM_001346272.2:c.*1148dup, NM_001346272.1:c.*1148dup, NM_001346262.2:c.*1148dup, NM_001346262.1:c.*1148dup, NM_001301029.2:c.*1148dup, NM_001301029.1:c.*1148dup, NM_001346268.2:c.*1148dup, NM_001346268.1:c.*1148dup, NM_001400797.1:c.*1148dup, NM_001400796.1:c.*1148dup, NM_001400804.1:c.*1148dup, NM_001400785.1:c.*1148dup, NM_001400795.1:c.*1148dup, NM_001400812.1:c.*1148dup, NM_001400784.1:c.*1148dup, NM_001400786.1:c.*1148dup, NM_001400811.1:c.*1148dup, NM_001400806.1:c.*1148dup, NM_001400805.1:c.*1148dup, NM_001400787.1:c.*1148dup, NM_001400788.1:c.*1148dup, NM_001400803.1:c.*1148dup, NM_001400789.1:c.*1148dup, NM_001400790.1:c.*1148dup, NM_001400791.1:c.*1148dup, NM_001400802.1:c.*1148dup, NM_001400792.1:c.*1148dup, NM_001400810.1:c.*1148dup, NM_001400800.1:c.*1148dup, NM_001400793.1:c.*1148dup, NM_001400813.1:c.*1148dup, NM_001400809.1:c.*1148dup, NM_001400807.1:c.*1148dup, NM_001400801.1:c.*1148dup, NR_174609.1:n.3991dup, NM_001400799.1:c.*1148dup
                      11.

                      rs1491183407 has merged into rs35806711 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                        Chromosome:
                        11:113853313 (GRCh38)
                        11:113724035 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:113853301:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:113853301:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:113853301:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:113853301:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:113853301:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:113853301:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:113853301:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:113853301:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:113853301:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:113853301:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:113853301:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:113853301:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:113853301:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:113853301:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:113853301:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:113853301:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:113853301:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:113853301:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:113853301:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:113853301:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:113853301:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:113853301:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:113853301:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:113853301:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                        Gene:
                        USP28 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAAAAAAAAAA=0./0 (ALFA)
                        HGVS:
                        NC_000011.10:g.113853313_113853328del, NC_000011.10:g.113853314_113853328del, NC_000011.10:g.113853315_113853328del, NC_000011.10:g.113853316_113853328del, NC_000011.10:g.113853317_113853328del, NC_000011.10:g.113853318_113853328del, NC_000011.10:g.113853319_113853328del, NC_000011.10:g.113853320_113853328del, NC_000011.10:g.113853321_113853328del, NC_000011.10:g.113853322_113853328del, NC_000011.10:g.113853323_113853328del, NC_000011.10:g.113853324_113853328del, NC_000011.10:g.113853325_113853328del, NC_000011.10:g.113853326_113853328del, NC_000011.10:g.113853327_113853328del, NC_000011.10:g.113853328del, NC_000011.10:g.113853328dup, NC_000011.10:g.113853327_113853328dup, NC_000011.10:g.113853326_113853328dup, NC_000011.10:g.113853325_113853328dup, NC_000011.10:g.113853324_113853328dup, NC_000011.10:g.113853322_113853328dup, NC_000011.10:g.113853317_113853328dup, NC_000011.10:g.113853314_113853328dup, NC_000011.9:g.113724035_113724050del, NC_000011.9:g.113724036_113724050del, NC_000011.9:g.113724037_113724050del, NC_000011.9:g.113724038_113724050del, NC_000011.9:g.113724039_113724050del, NC_000011.9:g.113724040_113724050del, NC_000011.9:g.113724041_113724050del, NC_000011.9:g.113724042_113724050del, NC_000011.9:g.113724043_113724050del, NC_000011.9:g.113724044_113724050del, NC_000011.9:g.113724045_113724050del, NC_000011.9:g.113724046_113724050del, NC_000011.9:g.113724047_113724050del, NC_000011.9:g.113724048_113724050del, NC_000011.9:g.113724049_113724050del, NC_000011.9:g.113724050del, NC_000011.9:g.113724050dup, NC_000011.9:g.113724049_113724050dup, NC_000011.9:g.113724048_113724050dup, NC_000011.9:g.113724047_113724050dup, NC_000011.9:g.113724046_113724050dup, NC_000011.9:g.113724044_113724050dup, NC_000011.9:g.113724039_113724050dup, NC_000011.9:g.113724036_113724050dup, NG_051668.1:g.27254_27269del, NG_051668.1:g.27255_27269del, NG_051668.1:g.27256_27269del, NG_051668.1:g.27257_27269del, NG_051668.1:g.27258_27269del, NG_051668.1:g.27259_27269del, NG_051668.1:g.27260_27269del, NG_051668.1:g.27261_27269del, NG_051668.1:g.27262_27269del, NG_051668.1:g.27263_27269del, NG_051668.1:g.27264_27269del, NG_051668.1:g.27265_27269del, NG_051668.1:g.27266_27269del, NG_051668.1:g.27267_27269del, NG_051668.1:g.27268_27269del, NG_051668.1:g.27269del, NG_051668.1:g.27269dup, NG_051668.1:g.27268_27269dup, NG_051668.1:g.27267_27269dup, NG_051668.1:g.27266_27269dup, NG_051668.1:g.27265_27269dup, NG_051668.1:g.27263_27269dup, NG_051668.1:g.27258_27269dup, NG_051668.1:g.27255_27269dup
                        12.

                        rs1491127134 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          CA>- [Show Flanks]
                          Chromosome:
                          11:113853301 (GRCh38)
                          11:113724023 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:113853300:CA:
                          Gene:
                          USP28 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          -=0.02639/313 (ALFA)
                          -=0.00013/5 (GnomAD)
                          -=0.00416/68 (TOMMO)
                          HGVS:
                          13.

                          rs1491020610 has merged into rs199733288 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
                            Chromosome:
                            11:113796704 (GRCh38)
                            11:113667426 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:113796689:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:113796689:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:113796689:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:113796689:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:113796689:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:113796689:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:113796689:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:113796689:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:113796689:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:113796689:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:113796689:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:113796689:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AAAAAAAAAAAAAAAA=0./0 (ALFA)
                            -=0.39/1953 (1000Genomes)
                            HGVS:
                            NC_000011.10:g.113796704_113796707del, NC_000011.10:g.113796705_113796707del, NC_000011.10:g.113796706_113796707del, NC_000011.10:g.113796707del, NC_000011.10:g.113796707dup, NC_000011.10:g.113796706_113796707dup, NC_000011.10:g.113796705_113796707dup, NC_000011.10:g.113796704_113796707dup, NC_000011.10:g.113796703_113796707dup, NC_000011.10:g.113796702_113796707dup, NC_000011.10:g.113796700_113796707dup, NC_000011.10:g.113796695_113796707dup, NC_000011.9:g.113667426_113667429del, NC_000011.9:g.113667427_113667429del, NC_000011.9:g.113667428_113667429del, NC_000011.9:g.113667429del, NC_000011.9:g.113667429dup, NC_000011.9:g.113667428_113667429dup, NC_000011.9:g.113667427_113667429dup, NC_000011.9:g.113667426_113667429dup, NC_000011.9:g.113667425_113667429dup, NC_000011.9:g.113667424_113667429dup, NC_000011.9:g.113667422_113667429dup, NC_000011.9:g.113667417_113667429dup, NG_051668.1:g.83878_83881del, NG_051668.1:g.83879_83881del, NG_051668.1:g.83880_83881del, NG_051668.1:g.83881del, NG_051668.1:g.83881dup, NG_051668.1:g.83880_83881dup, NG_051668.1:g.83879_83881dup, NG_051668.1:g.83878_83881dup, NG_051668.1:g.83877_83881dup, NG_051668.1:g.83876_83881dup, NG_051668.1:g.83874_83881dup, NG_051668.1:g.83869_83881dup
                            14.

                            rs1490985358 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              11:113817414 (GRCh38)
                              11:113688136 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:113817413:G:C
                              Gene:
                              USP28 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1490981555 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                11:113835382 (GRCh38)
                                11:113706104 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:113835381:G:A,NC_000011.10:113835381:G:T
                                Gene:
                                USP28 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1490954813 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,T [Show Flanks]
                                  Chromosome:
                                  11:113816444 (GRCh38)
                                  11:113687166 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:113816443:C:A,NC_000011.10:113816443:C:T
                                  Gene:
                                  USP28 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.00016/1 (1000Genomes)
                                  HGVS:
                                  17.

                                  rs1490927828 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    11:113797667 (GRCh38)
                                    11:113668389 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:113797666:A:G
                                    Gene:
                                    USP28 (Varview)
                                    Functional Consequence:
                                    downstream_transcript_variant,500B_downstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000021/3 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1490918623 has merged into rs58107096 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
                                      Chromosome:
                                      11:113868938 (GRCh38)
                                      11:113739660 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:113868925:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:113868925:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:113868925:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:113868925:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:113868925:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:113868925:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
                                      Gene:
                                      USP28 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      AAAAAAAAAAAAA=0./0 (ALFA)
                                      -=0.0012/6 (1000Genomes)
                                      A=0.325/13 (GENOME_DK)
                                      HGVS:
                                      19.

                                      rs1490916246 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        11:113799963 (GRCh38)
                                        11:113670685 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:113799962:T:A
                                        Gene:
                                        USP28 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000015/4 (TOPMED)
                                        A=0.000021/3 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1490898812 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          11:113854603 (GRCh38)
                                          11:113725325 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:113854602:T:C
                                          Gene:
                                          USP28 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:

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