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1.

rs1491535068 has merged into rs1206308709 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    16:89628270 (GRCh38)
    16:89694678 (GRCh37)
    Canonical SPDI:
    NC_000016.10:89628256:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:89628256:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:89628256:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:89628256:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:89628256:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:89628256:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:89628256:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:89628256:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:89628256:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:89628256:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    DPEP1 (Varview)
    Functional Consequence:
    intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTTTTTTT=0./0 (ALFA)
    TT=0.000004/1 (TOPMED)
    TTTTT=0.005076/2 (NorthernSweden)
    HGVS:
    2.

    rs1491461224 has merged into rs200936498 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      C>-,CC [Show Flanks]
      Chromosome:
      16:89619124 (GRCh38)
      16:89685532 (GRCh37)
      Canonical SPDI:
      NC_000016.10:89619123:CCCCCCC:CCCCCC,NC_000016.10:89619123:CCCCCCC:CCCCCCCC
      Gene:
      DPEP1 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      CCCCCCCC=0./0 (ALFA)
      -=0.00596/33 (TOMMO)
      HGVS:
      3.

      rs1491452468 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->A,C,T [Show Flanks]
        Chromosome:
        16:89641227 (GRCh38)
        16:89707636 (GRCh37)
        Canonical SPDI:
        NC_000016.10:89641227::A,NC_000016.10:89641227::C,NC_000016.10:89641227::T
        Gene:
        DPEP1 (Varview), LOC124903758 (Varview)
        Functional Consequence:
        3_prime_UTR_variant,genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        T=0.000064/17 (TOPMED)
        HGVS:
        4.

        rs1491303686 has merged into rs3039849 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          16:89634100 (GRCh38)
          16:89700508 (GRCh37)
          Canonical SPDI:
          NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
          Gene:
          DPEP1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTT=0./0 (ALFA)
          -=0.04153/208 (1000Genomes)
          HGVS:
          NC_000016.10:g.89634100_89634107del, NC_000016.10:g.89634101_89634107del, NC_000016.10:g.89634102_89634107del, NC_000016.10:g.89634103_89634107del, NC_000016.10:g.89634105_89634107del, NC_000016.10:g.89634106_89634107del, NC_000016.10:g.89634107del, NC_000016.10:g.89634107dup, NC_000016.10:g.89634106_89634107dup, NC_000016.10:g.89634105_89634107dup, NC_000016.10:g.89634104_89634107dup, NC_000016.10:g.89634103_89634107dup, NC_000016.10:g.89634102_89634107dup, NC_000016.10:g.89634101_89634107dup, NC_000016.10:g.89634100_89634107dup, NC_000016.10:g.89634099_89634107dup, NC_000016.10:g.89634098_89634107dup, NC_000016.10:g.89634097_89634107dup, NC_000016.10:g.89634096_89634107dup, NC_000016.10:g.89634095_89634107dup, NC_000016.10:g.89634107_89634108insTTTTTTTTTTTTTTTTT, NC_000016.10:g.89634107_89634108insTTTTTTTTTTTTTTTTTT, NC_000016.10:g.89634107_89634108insTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.89634107_89634108insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.89634107_89634108insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.89634107_89634108insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.89634107_89634108insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.89700508_89700515del, NC_000016.9:g.89700509_89700515del, NC_000016.9:g.89700510_89700515del, NC_000016.9:g.89700511_89700515del, NC_000016.9:g.89700513_89700515del, NC_000016.9:g.89700514_89700515del, NC_000016.9:g.89700515del, NC_000016.9:g.89700515dup, NC_000016.9:g.89700514_89700515dup, NC_000016.9:g.89700513_89700515dup, NC_000016.9:g.89700512_89700515dup, NC_000016.9:g.89700511_89700515dup, NC_000016.9:g.89700510_89700515dup, NC_000016.9:g.89700509_89700515dup, NC_000016.9:g.89700508_89700515dup, NC_000016.9:g.89700507_89700515dup, NC_000016.9:g.89700506_89700515dup, NC_000016.9:g.89700505_89700515dup, NC_000016.9:g.89700504_89700515dup, NC_000016.9:g.89700503_89700515dup, NC_000016.9:g.89700515_89700516insTTTTTTTTTTTTTTTTT, NC_000016.9:g.89700515_89700516insTTTTTTTTTTTTTTTTTT, NC_000016.9:g.89700515_89700516insTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.89700515_89700516insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.89700515_89700516insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.89700515_89700516insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.89700515_89700516insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
          5.

          rs1491219003 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            CC>-,CCC [Show Flanks]
            Chromosome:
            16:89634908 (GRCh38)
            16:89701316 (GRCh37)
            Canonical SPDI:
            NC_000016.10:89634906:CCC:C,NC_000016.10:89634906:CCC:CCCC
            Gene:
            DPEP1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            CCCC=0./0 (ALFA)
            -=0.00062/53 (GnomAD)
            -=0.00774/128 (TOMMO)
            -=0.00928/17 (Korea1K)
            HGVS:
            6.

            rs1491137827 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              GC>- [Show Flanks]
              Chromosome:
              16:89619123 (GRCh38)
              16:89685531 (GRCh37)
              Canonical SPDI:
              NC_000016.10:89619122:GC:
              Gene:
              DPEP1 (Varview)
              Functional Consequence:
              upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
              HGVS:
              7.

              rs1491127213 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                CT>- [Show Flanks]
                Chromosome:
                16:89628256 (GRCh38)
                16:89694664 (GRCh37)
                Canonical SPDI:
                NC_000016.10:89628254:TCT:T
                Gene:
                DPEP1 (Varview)
                Functional Consequence:
                upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.00025/3 (ALFA)
                -=0.00004/1 (TOMMO)
                -=0.00078/5 (1000Genomes)
                -=0.00093/72 (GnomAD)
                -=0.00438/8 (Korea1K)
                HGVS:
                8.

                rs1491018781 has merged into rs60768956 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  GGG>-,G,GG,GGGG,GGGGG [Show Flanks]
                  Chromosome:
                  16:89611589 (GRCh38)
                  16:89677997 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:89611581:GGGGGGGGGG:GGGGGGG,NC_000016.10:89611581:GGGGGGGGGG:GGGGGGGG,NC_000016.10:89611581:GGGGGGGGGG:GGGGGGGGG,NC_000016.10:89611581:GGGGGGGGGG:GGGGGGGGGGG,NC_000016.10:89611581:GGGGGGGGGG:GGGGGGGGGGGG
                  Gene:
                  DPEP1 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  GGGGGGGGGGG=0./0 (ALFA)
                  G=0.0741/74 (GoNL)
                  G=0.075/3 (GENOME_DK)
                  G=0.0864/387 (Estonian)
                  G=0.0887/342 (ALSPAC)
                  G=0.0967/58 (NorthernSweden)
                  G=0.0982/364 (TWINSUK)
                  G=0.1941/971 (1000Genomes)
                  HGVS:
                  9.

                  rs1490992802 [Homo sapiens]
                    Variant type:
                    INS
                    Alleles:
                    ->A [Show Flanks]
                    Chromosome:
                    16:89641594 (GRCh38)
                    16:89708003 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:89641594::A
                    Gene:
                    DPEP1 (Varview), LOC124903758 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1490960996 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      16:89623194 (GRCh38)
                      16:89689602 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:89623193:G:A
                      Gene:
                      DPEP1 (Varview)
                      Functional Consequence:
                      intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1490838879 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C,G [Show Flanks]
                        Chromosome:
                        16:89618970 (GRCh38)
                        16:89685378 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:89618969:T:C,NC_000016.10:89618969:T:G
                        Gene:
                        DPEP1 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.00015/2 (TOMMO)
                        G=0.24235/618 (KOREAN)
                        T=0.34322/81 (SGDP_PRJ)
                        HGVS:
                        12.

                        rs1490835452 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          16:89612326 (GRCh38)
                          16:89678734 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:89612325:T:A
                          Gene:
                          DPEP1 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000008/2 (TOPMED)
                          A=0.000021/3 (GnomAD)
                          HGVS:
                          13.

                          rs1490807359 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            16:89634108 (GRCh38)
                            16:89700516 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:89634107:G:T
                            Gene:
                            DPEP1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.00076/9 (ALFA)
                            T=0.00211/31 (TOMMO)
                            T=0.13134/383 (KOREAN)
                            G=0.5/2 (SGDP_PRJ)
                            HGVS:
                            14.

                            rs1490786391 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              16:89631473 (GRCh38)
                              16:89697881 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:89631472:T:C
                              Gene:
                              DPEP1 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1490776662 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                16:89628347 (GRCh38)
                                16:89694755 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:89628346:T:A
                                Gene:
                                DPEP1 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1490750842 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  16:89627878 (GRCh38)
                                  16:89694286 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:89627877:T:C
                                  Gene:
                                  DPEP1 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000008/2 (TOPMED)
                                  C=0.000283/5 (TOMMO)
                                  C=0.001092/2 (Korea1K)
                                  HGVS:
                                  17.

                                  rs1490650135 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    16:89619209 (GRCh38)
                                    16:89685617 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:89619208:C:T
                                    Gene:
                                    DPEP1 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.0333/395 (ALFA)
                                    C=0.05/1 (SGDP_PRJ)
                                    T=0.16116/78 (KOREAN)
                                    HGVS:
                                    18.

                                    rs1490624843 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->C [Show Flanks]
                                      Chromosome:
                                      16:89619147 (GRCh38)
                                      16:89685556 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:89619147:CCCCC:CCCCCC
                                      Gene:
                                      DPEP1 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      CCCCCC=0.00152/18 (ALFA)
                                      C=0.00205/2 (Korea1K)
                                      HGVS:
                                      19.

                                      rs1490513604 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        16:89612640 (GRCh38)
                                        16:89679048 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:89612639:C:T
                                        Gene:
                                        DPEP1 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000007/1 (GnomAD)
                                        T=0.000177/3 (TOMMO)
                                        HGVS:
                                        20.

                                        rs1490434658 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          16:89621606 (GRCh38)
                                          16:89688014 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:89621605:C:T
                                          Gene:
                                          DPEP1 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000007/1 (GnomAD)
                                          T=0.008333/5 (NorthernSweden)
                                          HGVS:

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