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Items: 1 to 20 of 3561

1.

rs1490856031 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TATATATATATATATAAAAATATATA>- [Show Flanks]
    Chromosome:
    17:7571894 (GRCh38)
    17:7475212 (GRCh37)
    Canonical SPDI:
    NC_000017.11:7571886:ATATATATATATATATATATATAAAAATATATA:ATATATA
    Gene:
    EIF4A1 (Varview), SENP3 (Varview), SENP3-EIF4A1 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    ATATATA=0.00008/1 (ALFA)
    -=0.0001/1 (GnomAD)
    -=0.00043/6 (TOMMO)
    HGVS:

    2.

    rs1490419620 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C [Show Flanks]
      Chromosome:
      17:7563744 (GRCh38)
      17:7467061 (GRCh37)
      Canonical SPDI:
      NC_000017.11:7563743:A:C
      Gene:
      SENP3 (Varview), SENP3-EIF4A1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,coding_sequence_variant,missense_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:

      3.

      rs1490365322 has merged into rs58537439 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TATATATATATATATATATATATATATATATATATATATATATATATATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA [Show Flanks]
        Chromosome:
        17:7571852 (GRCh38)
        17:7475170 (GRCh37)
        Canonical SPDI:
        NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
        Gene:
        EIF4A1 (Varview), SENP3 (Varview), SENP3-EIF4A1 (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant,intron_variant,3_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TATATATATATATA=0./0 (ALFA)
        HGVS:
        NC_000017.11:g.7571838TA[7], NC_000017.11:g.7571838TA[8], NC_000017.11:g.7571838TA[9], NC_000017.11:g.7571838TA[10], NC_000017.11:g.7571838TA[11], NC_000017.11:g.7571838TA[12], NC_000017.11:g.7571838TA[13], NC_000017.11:g.7571838TA[14], NC_000017.11:g.7571838TA[15], NC_000017.11:g.7571838TA[16], NC_000017.11:g.7571838TA[17], NC_000017.11:g.7571838TA[18], NC_000017.11:g.7571838TA[19], NC_000017.11:g.7571838TA[20], NC_000017.11:g.7571838TA[21], NC_000017.11:g.7571838TA[22], NC_000017.11:g.7571838TA[23], NC_000017.11:g.7571838TA[24], NC_000017.11:g.7571838TA[25], NC_000017.11:g.7571838TA[26], NC_000017.11:g.7571838TA[27], NC_000017.11:g.7571838TA[28], NC_000017.11:g.7571838TA[29], NC_000017.11:g.7571838TA[30], NC_000017.11:g.7571838TA[31], NC_000017.11:g.7571838TA[32], NC_000017.11:g.7571838TA[33], NC_000017.11:g.7571838TA[34], NC_000017.11:g.7571838TA[35], NC_000017.11:g.7571838TA[37], NC_000017.11:g.7571838TA[38], NC_000017.11:g.7571838TA[39], NC_000017.11:g.7571838TA[40], NC_000017.10:g.7475156TA[7], NC_000017.10:g.7475156TA[8], NC_000017.10:g.7475156TA[9], NC_000017.10:g.7475156TA[10], NC_000017.10:g.7475156TA[11], NC_000017.10:g.7475156TA[12], NC_000017.10:g.7475156TA[13], NC_000017.10:g.7475156TA[14], NC_000017.10:g.7475156TA[15], NC_000017.10:g.7475156TA[16], NC_000017.10:g.7475156TA[17], NC_000017.10:g.7475156TA[18], NC_000017.10:g.7475156TA[19], NC_000017.10:g.7475156TA[20], NC_000017.10:g.7475156TA[21], NC_000017.10:g.7475156TA[22], NC_000017.10:g.7475156TA[23], NC_000017.10:g.7475156TA[24], NC_000017.10:g.7475156TA[25], NC_000017.10:g.7475156TA[26], NC_000017.10:g.7475156TA[27], NC_000017.10:g.7475156TA[28], NC_000017.10:g.7475156TA[29], NC_000017.10:g.7475156TA[30], NC_000017.10:g.7475156TA[31], NC_000017.10:g.7475156TA[32], NC_000017.10:g.7475156TA[33], NC_000017.10:g.7475156TA[34], NC_000017.10:g.7475156TA[35], NC_000017.10:g.7475156TA[37], NC_000017.10:g.7475156TA[38], NC_000017.10:g.7475156TA[39], NC_000017.10:g.7475156TA[40], NM_015670.6:c.*355TA[7], NM_015670.6:c.*355TA[8], NM_015670.6:c.*355TA[9], NM_015670.6:c.*355TA[10], NM_015670.6:c.*355TA[11], NM_015670.6:c.*355TA[12], NM_015670.6:c.*355TA[13], NM_015670.6:c.*355TA[14], NM_015670.6:c.*355TA[15], NM_015670.6:c.*355TA[16], NM_015670.6:c.*355TA[17], NM_015670.6:c.*355TA[18], NM_015670.6:c.*355TA[19], NM_015670.6:c.*355TA[20], NM_015670.6:c.*355TA[21], NM_015670.6:c.*355TA[22], NM_015670.6:c.*355TA[23], NM_015670.6:c.*355TA[24], NM_015670.6:c.*355TA[25], NM_015670.6:c.*355TA[26], NM_015670.6:c.*355TA[27], NM_015670.6:c.*355TA[28], NM_015670.6:c.*355TA[29], NM_015670.6:c.*355TA[30], NM_015670.6:c.*355TA[31], NM_015670.6:c.*355TA[32], NM_015670.6:c.*355TA[33], NM_015670.6:c.*355TA[34], NM_015670.6:c.*355TA[35], NM_015670.6:c.*355TA[37], NM_015670.6:c.*355TA[38], NM_015670.6:c.*355TA[39], NM_015670.6:c.*355TA[40], NM_015670.5:c.*355TA[7], NM_015670.5:c.*355TA[8], NM_015670.5:c.*355TA[9], NM_015670.5:c.*355TA[10], NM_015670.5:c.*355TA[11], NM_015670.5:c.*355TA[12], NM_015670.5:c.*355TA[13], NM_015670.5:c.*355TA[14], NM_015670.5:c.*355TA[15], NM_015670.5:c.*355TA[16], NM_015670.5:c.*355TA[17], NM_015670.5:c.*355TA[18], NM_015670.5:c.*355TA[19], NM_015670.5:c.*355TA[20], NM_015670.5:c.*355TA[21], NM_015670.5:c.*355TA[22], NM_015670.5:c.*355TA[23], NM_015670.5:c.*355TA[24], NM_015670.5:c.*355TA[25], NM_015670.5:c.*355TA[26], NM_015670.5:c.*355TA[27], NM_015670.5:c.*355TA[28], NM_015670.5:c.*355TA[29], NM_015670.5:c.*355TA[30], NM_015670.5:c.*355TA[31], NM_015670.5:c.*355TA[32], NM_015670.5:c.*355TA[33], NM_015670.5:c.*355TA[34], NM_015670.5:c.*355TA[35], NM_015670.5:c.*355TA[37], NM_015670.5:c.*355TA[38], NM_015670.5:c.*355TA[39], NM_015670.5:c.*355TA[40]

        4.

        rs1490113033 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTAG>- [Show Flanks]
          Chromosome:
          17:7565352 (GRCh38)
          17:7468669 (GRCh37)
          Canonical SPDI:
          NC_000017.11:7565349:AGTTAG:AG
          Gene:
          SENP3 (Varview), SENP3-EIF4A1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          AG=0.000071/1 (ALFA)
          -=0.000004/1 (TOPMED)
          HGVS:

          5.

          rs1490084958 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C,G [Show Flanks]
            Chromosome:
            17:7564877 (GRCh38)
            17:7468194 (GRCh37)
            Canonical SPDI:
            NC_000017.11:7564876:T:C,NC_000017.11:7564876:T:G
            Gene:
            SENP3 (Varview), SENP3-EIF4A1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            C=0.000007/1 (GnomAD)
            HGVS:

            6.

            rs1489990902 has merged into rs571416770 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAAA>-,A,AA,AAA,AAAAAA [Show Flanks]
              Chromosome:
              17:7571910 (GRCh38)
              17:7475228 (GRCh37)
              Canonical SPDI:
              NC_000017.11:7571908:AAAAA:A,NC_000017.11:7571908:AAAAA:AA,NC_000017.11:7571908:AAAAA:AAA,NC_000017.11:7571908:AAAAA:AAAA,NC_000017.11:7571908:AAAAA:AAAAAAA
              Gene:
              EIF4A1 (Varview), SENP3 (Varview), SENP3-EIF4A1 (Varview)
              Functional Consequence:
              2KB_upstream_variant,intron_variant,3_prime_UTR_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              -=0.00207/2 (Korea1K)
              -=0.00685/2 (NorthernSweden)
              HGVS:

              7.

              rs1489840975 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                17:7566112 (GRCh38)
                17:7469429 (GRCh37)
                Canonical SPDI:
                NC_000017.11:7566111:C:T
                Gene:
                SENP3 (Varview), SENP3-EIF4A1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000214/3 (ALFA)
                T=0.000049/13 (TOPMED)
                T=0.000057/8 (GnomAD)
                T=0.000546/1 (Korea1K)
                HGVS:

                8.

                rs1489675291 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  A>- [Show Flanks]
                  Chromosome:
                  17:7560579 (GRCh38)
                  17:7463896 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:7560578:AAA:AA
                  Gene:
                  TNFSF13 (Varview), SENP3 (Varview), TNFSF12-TNFSF13 (Varview), SENP3-EIF4A1 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AA=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  -=0.000007/1 (GnomAD)
                  HGVS:

                  9.

                  rs1489671258 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    17:7570421 (GRCh38)
                    17:7473739 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:7570420:C:T
                    Gene:
                    SENP3 (Varview), SENP3-EIF4A1 (Varview)
                    Functional Consequence:
                    synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (GnomAD_exomes)
                    T=0.000007/1 (GnomAD)
                    T=0.000015/4 (TOPMED)
                    HGVS:

                    10.

                    rs1489664080 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      17:7561685 (GRCh38)
                      17:7465002 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:7561684:G:C
                      Gene:
                      TNFSF13 (Varview), SENP3 (Varview), TNFSF12-TNFSF13 (Varview), SENP3-EIF4A1 (Varview)
                      Functional Consequence:
                      downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      C=0.000007/1 (GnomAD)
                      HGVS:

                      11.

                      rs1489611864 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        17:7568176 (GRCh38)
                        17:7471494 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:7568175:A:G
                        Gene:
                        SENP3 (Varview), SENP3-EIF4A1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        HGVS:

                        12.

                        rs1489508443 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          AT>- [Show Flanks]
                          Chromosome:
                          17:7571309 (GRCh38)
                          17:7474627 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:7571306:ATAT:AT
                          Gene:
                          EIF4A1 (Varview), SENP3 (Varview), SENP3-EIF4A1 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          ATAT=0./0 (ALFA)
                          -=0.000011/3 (TOPMED)
                          -=0.000014/2 (GnomAD)
                          HGVS:

                          13.

                          rs1489488660 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            17:7563778 (GRCh38)
                            17:7467095 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:7563777:G:A
                            Gene:
                            SENP3 (Varview), SENP3-EIF4A1 (Varview)
                            Functional Consequence:
                            synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000011/3 (TOPMED)
                            HGVS:

                            14.

                            rs1489439492 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              17:7564732 (GRCh38)
                              17:7468049 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:7564731:A:C
                              Gene:
                              SENP3 (Varview), SENP3-EIF4A1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,coding_sequence_variant,missense_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.

                              rs1489079339 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G,T [Show Flanks]
                                Chromosome:
                                17:7563100 (GRCh38)
                                17:7466417 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:7563099:C:G,NC_000017.11:7563099:C:T
                                Gene:
                                SENP3 (Varview), SENP3-EIF4A1 (Varview)
                                Functional Consequence:
                                synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000012/2 (GnomAD_exomes)
                                T=0.000035/1 (TOMMO)
                                HGVS:

                                16.

                                rs1488970765 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  17:7570996 (GRCh38)
                                  17:7474314 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:7570995:G:A
                                  Gene:
                                  EIF4A1 (Varview), SENP3 (Varview), SENP3-EIF4A1 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  A=0.000021/3 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1488751286 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C,G [Show Flanks]
                                    Chromosome:
                                    17:7560089 (GRCh38)
                                    17:7463406 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:7560088:T:C,NC_000017.11:7560088:T:G
                                    Gene:
                                    TNFSF13 (Varview), SENP3 (Varview), TNFSF12-TNFSF13 (Varview), SENP3-EIF4A1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,synonymous_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000017.11:g.7560089T>C, NC_000017.11:g.7560089T>G, NC_000017.10:g.7463406T>C, NC_000017.10:g.7463406T>G, NG_029949.1:g.6798T>C, NG_029949.1:g.6798T>G, NM_003808.4:c.426T>C, NM_003808.4:c.426T>G, NM_003808.3:c.426T>C, NM_003808.3:c.426T>G, NM_172088.4:c.426T>C, NM_172088.4:c.426T>G, NM_172088.3:c.426T>C, NM_172088.3:c.426T>G, NM_172088.2:c.426T>C, NM_172088.2:c.426T>G, NM_172087.3:c.378T>C, NM_172087.3:c.378T>G, NM_172087.2:c.378T>C, NM_172087.2:c.378T>G, NR_073490.3:n.589T>C, NR_073490.3:n.589T>G, NR_073490.2:n.1047T>C, NR_073490.2:n.1047T>G, NM_001198622.2:c.345T>C, NM_001198622.2:c.345T>G, NM_001198622.1:c.345T>C, NM_001198622.1:c.345T>G, NM_001198623.2:c.342T>C, NM_001198623.2:c.342T>G, NM_001198623.1:c.342T>C, NM_001198623.1:c.342T>G, NM_001198624.2:c.291T>C, NM_001198624.2:c.291T>G, NM_001198624.1:c.291T>C, NM_001198624.1:c.291T>G, NM_172089.4:c.666T>C, NM_172089.4:c.666T>G, NM_172089.3:c.666T>C, NM_172089.3:c.666T>G

                                    18.

                                    rs1488741272 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      17:7560165 (GRCh38)
                                      17:7463482 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:7560164:C:T
                                      Gene:
                                      TNFSF13 (Varview), SENP3 (Varview), TNFSF12-TNFSF13 (Varview), SENP3-EIF4A1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,stop_gained,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000008/2 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1488629501 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        17:7569076 (GRCh38)
                                        17:7472394 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:7569075:G:A
                                        Gene:
                                        SENP3 (Varview), SENP3-EIF4A1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1488571020 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          G>- [Show Flanks]
                                          Chromosome:
                                          17:7570991 (GRCh38)
                                          17:7474309 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:7570990:GGG:GG
                                          Gene:
                                          EIF4A1 (Varview), SENP3 (Varview), SENP3-EIF4A1 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          GG=0./0 (ALFA)
                                          -=0.000004/1 (TOPMED)
                                          HGVS:

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