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Items: 1 to 20 of 9775

1.

rs1491588143 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->A [Show Flanks]
    Chromosome:
    15:43403754 (GRCh38)
    15:43695953 (GRCh37)
    Canonical SPDI:
    NC_000015.10:43403754::A
    Gene:
    TP53BP1 (Varview), TUBGCP4 (Varview)
    Functional Consequence:
    3_prime_UTR_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,frameshift_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    HGVS:
    NC_000015.10:g.43403754_43403755insA, NC_000015.9:g.43695952_43695953insA, NG_042168.1:g.37696_37697insA, NM_014444.5:c.1803_1804insA, NM_014444.4:c.1803_1804insA, NM_014444.3:c.1803_1804insA, NM_014444.2:c.1803_1804insA, NM_001286414.3:c.1806_1807insA, NM_001286414.2:c.1806_1807insA, NM_001286414.1:c.1806_1807insA, NM_005657.4:c.*3628_*3629insT, NM_005657.3:c.*3628_*3629insT, NM_001141980.3:c.*3628_*3629insT, NM_001141980.2:c.*3628_*3629insT, NM_001141979.3:c.*3628_*3629insT, NM_001141979.2:c.*3628_*3629insT, XM_011521455.3:c.1398_1399insA, XM_011521455.2:c.1398_1399insA, XM_011521455.1:c.1398_1399insA, NM_001355001.2:c.*3628_*3629insT, NM_001355001.1:c.*3628_*3629insT, XM_047432995.1:c.*3628_*3629insT, XM_047432994.1:c.*3628_*3629insT, XM_047432996.1:c.*3628_*3629insT, NM_001411050.1:c.*3628_*3629insT, XM_047432390.1:c.1755_1756insA, XM_047432391.1:c.1752_1753insA, NP_055259.2:p.Pro602fs, NP_001273343.1:p.Pro603fs, XP_011519757.1:p.Pro467fs, XP_047288346.1:p.Pro586fs, XP_047288347.1:p.Pro585fs

    2.

    rs1491573463 has merged into rs748820688 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      15:43386387 (GRCh38)
      15:43678585 (GRCh37)
      Canonical SPDI:
      NC_000015.10:43386377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000015.10:43386377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:43386377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:43386377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:43386377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:43386377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:43386377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:43386377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:43386377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:43386377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:43386377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43386377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43386377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43386377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43386377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43386377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43386377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43386377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43386377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43386377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43386377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43386377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43386377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43386377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43386377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43386377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43386377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43386377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43386377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43386377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43386377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      TUBGCP4 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTT=0./0 (ALFA)
      -=0.0147/1 (GnomAD_exomes)
      HGVS:
      NC_000015.10:g.43386387_43386400del, NC_000015.10:g.43386390_43386400del, NC_000015.10:g.43386391_43386400del, NC_000015.10:g.43386392_43386400del, NC_000015.10:g.43386393_43386400del, NC_000015.10:g.43386394_43386400del, NC_000015.10:g.43386395_43386400del, NC_000015.10:g.43386396_43386400del, NC_000015.10:g.43386397_43386400del, NC_000015.10:g.43386398_43386400del, NC_000015.10:g.43386399_43386400del, NC_000015.10:g.43386400del, NC_000015.10:g.43386400dup, NC_000015.10:g.43386399_43386400dup, NC_000015.10:g.43386398_43386400dup, NC_000015.10:g.43386397_43386400dup, NC_000015.10:g.43386396_43386400dup, NC_000015.10:g.43386395_43386400dup, NC_000015.10:g.43386394_43386400dup, NC_000015.10:g.43386393_43386400dup, NC_000015.10:g.43386392_43386400dup, NC_000015.10:g.43386391_43386400dup, NC_000015.10:g.43386390_43386400dup, NC_000015.10:g.43386389_43386400dup, NC_000015.10:g.43386388_43386400dup, NC_000015.10:g.43386387_43386400dup, NC_000015.10:g.43386386_43386400dup, NC_000015.10:g.43386385_43386400dup, NC_000015.10:g.43386383_43386400dup, NC_000015.10:g.43386382_43386400dup, NC_000015.10:g.43386378_43386400dup, NC_000015.9:g.43678585_43678598del, NC_000015.9:g.43678588_43678598del, NC_000015.9:g.43678589_43678598del, NC_000015.9:g.43678590_43678598del, NC_000015.9:g.43678591_43678598del, NC_000015.9:g.43678592_43678598del, NC_000015.9:g.43678593_43678598del, NC_000015.9:g.43678594_43678598del, NC_000015.9:g.43678595_43678598del, NC_000015.9:g.43678596_43678598del, NC_000015.9:g.43678597_43678598del, NC_000015.9:g.43678598del, NC_000015.9:g.43678598dup, NC_000015.9:g.43678597_43678598dup, NC_000015.9:g.43678596_43678598dup, NC_000015.9:g.43678595_43678598dup, NC_000015.9:g.43678594_43678598dup, NC_000015.9:g.43678593_43678598dup, NC_000015.9:g.43678592_43678598dup, NC_000015.9:g.43678591_43678598dup, NC_000015.9:g.43678590_43678598dup, NC_000015.9:g.43678589_43678598dup, NC_000015.9:g.43678588_43678598dup, NC_000015.9:g.43678587_43678598dup, NC_000015.9:g.43678586_43678598dup, NC_000015.9:g.43678585_43678598dup, NC_000015.9:g.43678584_43678598dup, NC_000015.9:g.43678583_43678598dup, NC_000015.9:g.43678581_43678598dup, NC_000015.9:g.43678580_43678598dup, NC_000015.9:g.43678576_43678598dup, NG_042168.1:g.20329_20342del, NG_042168.1:g.20332_20342del, NG_042168.1:g.20333_20342del, NG_042168.1:g.20334_20342del, NG_042168.1:g.20335_20342del, NG_042168.1:g.20336_20342del, NG_042168.1:g.20337_20342del, NG_042168.1:g.20338_20342del, NG_042168.1:g.20339_20342del, NG_042168.1:g.20340_20342del, NG_042168.1:g.20341_20342del, NG_042168.1:g.20342del, NG_042168.1:g.20342dup, NG_042168.1:g.20341_20342dup, NG_042168.1:g.20340_20342dup, NG_042168.1:g.20339_20342dup, NG_042168.1:g.20338_20342dup, NG_042168.1:g.20337_20342dup, NG_042168.1:g.20336_20342dup, NG_042168.1:g.20335_20342dup, NG_042168.1:g.20334_20342dup, NG_042168.1:g.20333_20342dup, NG_042168.1:g.20332_20342dup, NG_042168.1:g.20331_20342dup, NG_042168.1:g.20330_20342dup, NG_042168.1:g.20329_20342dup, NG_042168.1:g.20328_20342dup, NG_042168.1:g.20327_20342dup, NG_042168.1:g.20325_20342dup, NG_042168.1:g.20324_20342dup, NG_042168.1:g.20320_20342dup

      3.

      rs1491502935 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CG>- [Show Flanks]
        Chromosome:
        15:43386344 (GRCh38)
        15:43678542 (GRCh37)
        Canonical SPDI:
        NC_000015.10:43386343:CG:
        Gene:
        TUBGCP4 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0./0 (ALFA)
        -=0.00032/9 (TOMMO)
        HGVS:

        4.

        rs1491265731 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          GT>- [Show Flanks]
          Chromosome:
          15:43386345 (GRCh38)
          15:43678543 (GRCh37)
          Canonical SPDI:
          NC_000015.10:43386344:GT:
          Gene:
          TUBGCP4 (Varview)
          Functional Consequence:
          intron_variant
          Clinical significance:
          benign
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0.0159/240 (ALFA)
          -=0.00743/578 (GnomAD_exomes)
          -=0.0102/524 (ExAC)
          -=0.10553/4289 (GnomAD)
          -=0.1868/3096 (TOMMO)
          HGVS:

          5.

          rs1491233672 has merged into rs10718458 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            15:43386735 (GRCh38)
            15:43678933 (GRCh37)
            Canonical SPDI:
            NC_000015.10:43386725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000015.10:43386725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:43386725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:43386725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:43386725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:43386725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:43386725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:43386725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:43386725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:43386725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:43386725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:43386725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:43386725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:43386725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:43386725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:43386725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:43386725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:43386725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:43386725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:43386725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:43386725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:43386725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:43386725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:43386725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:43386725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:43386725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:43386725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:43386725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            TUBGCP4 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAA=0./0 (ALFA)
            HGVS:
            NC_000015.10:g.43386735_43386749del, NC_000015.10:g.43386736_43386749del, NC_000015.10:g.43386737_43386749del, NC_000015.10:g.43386738_43386749del, NC_000015.10:g.43386739_43386749del, NC_000015.10:g.43386740_43386749del, NC_000015.10:g.43386742_43386749del, NC_000015.10:g.43386743_43386749del, NC_000015.10:g.43386744_43386749del, NC_000015.10:g.43386745_43386749del, NC_000015.10:g.43386746_43386749del, NC_000015.10:g.43386747_43386749del, NC_000015.10:g.43386748_43386749del, NC_000015.10:g.43386749del, NC_000015.10:g.43386749dup, NC_000015.10:g.43386748_43386749dup, NC_000015.10:g.43386747_43386749dup, NC_000015.10:g.43386746_43386749dup, NC_000015.10:g.43386745_43386749dup, NC_000015.10:g.43386744_43386749dup, NC_000015.10:g.43386743_43386749dup, NC_000015.10:g.43386742_43386749dup, NC_000015.10:g.43386741_43386749dup, NC_000015.10:g.43386740_43386749dup, NC_000015.10:g.43386736_43386749dup, NC_000015.10:g.43386731_43386749dup, NC_000015.10:g.43386749_43386750insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.43386749_43386750insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.43678933_43678947del, NC_000015.9:g.43678934_43678947del, NC_000015.9:g.43678935_43678947del, NC_000015.9:g.43678936_43678947del, NC_000015.9:g.43678937_43678947del, NC_000015.9:g.43678938_43678947del, NC_000015.9:g.43678940_43678947del, NC_000015.9:g.43678941_43678947del, NC_000015.9:g.43678942_43678947del, NC_000015.9:g.43678943_43678947del, NC_000015.9:g.43678944_43678947del, NC_000015.9:g.43678945_43678947del, NC_000015.9:g.43678946_43678947del, NC_000015.9:g.43678947del, NC_000015.9:g.43678947dup, NC_000015.9:g.43678946_43678947dup, NC_000015.9:g.43678945_43678947dup, NC_000015.9:g.43678944_43678947dup, NC_000015.9:g.43678943_43678947dup, NC_000015.9:g.43678942_43678947dup, NC_000015.9:g.43678941_43678947dup, NC_000015.9:g.43678940_43678947dup, NC_000015.9:g.43678939_43678947dup, NC_000015.9:g.43678938_43678947dup, NC_000015.9:g.43678934_43678947dup, NC_000015.9:g.43678929_43678947dup, NC_000015.9:g.43678947_43678948insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.43678947_43678948insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_042168.1:g.20677_20691del, NG_042168.1:g.20678_20691del, NG_042168.1:g.20679_20691del, NG_042168.1:g.20680_20691del, NG_042168.1:g.20681_20691del, NG_042168.1:g.20682_20691del, NG_042168.1:g.20684_20691del, NG_042168.1:g.20685_20691del, NG_042168.1:g.20686_20691del, NG_042168.1:g.20687_20691del, NG_042168.1:g.20688_20691del, NG_042168.1:g.20689_20691del, NG_042168.1:g.20690_20691del, NG_042168.1:g.20691del, NG_042168.1:g.20691dup, NG_042168.1:g.20690_20691dup, NG_042168.1:g.20689_20691dup, NG_042168.1:g.20688_20691dup, NG_042168.1:g.20687_20691dup, NG_042168.1:g.20686_20691dup, NG_042168.1:g.20685_20691dup, NG_042168.1:g.20684_20691dup, NG_042168.1:g.20683_20691dup, NG_042168.1:g.20682_20691dup, NG_042168.1:g.20678_20691dup, NG_042168.1:g.20673_20691dup, NG_042168.1:g.20691_20692insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_042168.1:g.20691_20692insAAAAAAAAAAAAAAAAAAAAAAAAAAAA

            6.

            rs1491203439 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              CA>- [Show Flanks]
              Chromosome:
              15:43406040 (GRCh38)
              15:43698238 (GRCh37)
              Canonical SPDI:
              NC_000015.10:43406039:CA:
              Gene:
              TP53BP1 (Varview), TUBGCP4 (Varview)
              Functional Consequence:
              3_prime_UTR_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              -=0.00126/15 (ALFA)
              -=0.0025/70 (TOMMO)
              HGVS:
              NC_000015.10:g.43406040_43406041del, NC_000015.9:g.43698238_43698239del, NG_042168.1:g.39982_39983del, NM_014444.5:c.*826_*827del, NM_014444.4:c.*826_*827del, NM_014444.3:c.*826_*827del, NM_014444.2:c.*826_*827del, NM_001286414.3:c.*826_*827del, NM_001286414.2:c.*826_*827del, NM_001286414.1:c.*826_*827del, NM_005657.4:c.*1342_*1343del, NM_005657.3:c.*1342_*1343del, XM_011521454.4:c.*826_*827del, XM_011521454.3:c.*826_*827del, XM_011521454.2:c.*826_*827del, XM_011521454.1:c.*826_*827del, NM_001141980.3:c.*1342_*1343del, NM_001141980.2:c.*1342_*1343del, NM_001141979.3:c.*1342_*1343del, NM_001141979.2:c.*1342_*1343del, XM_017022078.3:c.*826_*827del, XM_017022078.2:c.*826_*827del, XM_017022078.1:c.*826_*827del, XM_011521455.3:c.*826_*827del, XM_011521455.2:c.*826_*827del, XM_011521455.1:c.*826_*827del, NM_001355001.2:c.*1342_*1343del, NM_001355001.1:c.*1342_*1343del, XM_047432995.1:c.*1342_*1343del, XM_047432994.1:c.*1342_*1343del, XM_047432996.1:c.*1342_*1343del, NM_001411050.1:c.*1342_*1343del, XM_047432390.1:c.*826_*827del, XM_047432391.1:c.*826_*827del

              7.

              rs1491139569 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                CA>- [Show Flanks]
                Chromosome:
                15:43386725 (GRCh38)
                15:43678923 (GRCh37)
                Canonical SPDI:
                NC_000015.10:43386724:CA:
                Gene:
                TUBGCP4 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0.00244/29 (ALFA)
                -=0.00199/56 (TOMMO)
                HGVS:

                8.

                rs1491116472 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AT>-,ATAT [Show Flanks]
                  Chromosome:
                  15:43392122 (GRCh38)
                  15:43684320 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:43392119:ATAT:AT,NC_000015.10:43392119:ATAT:ATATAT
                  Gene:
                  TUBGCP4 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  ATAT=0.00008/1 (ALFA)
                  -=0.00055/1 (Korea1K)
                  -=0.00389/15 (ALSPAC)
                  -=0.02508/93 (TWINSUK)
                  HGVS:

                  9.

                  rs1491031323 has merged into rs61589376 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->CATA [Show Flanks]
                    Chromosome:
                    15:43392119 (GRCh38)
                    15:43684318 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:43392119:A:ACATA
                    Gene:
                    TUBGCP4 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    ACATA=0./0 (ALFA)
                    ACAT=0.000016/2 (GnomAD)
                    ACAT=0.02932/113 (ALSPAC)
                    ACAT=0.029396/109 (TWINSUK)
                    HGVS:

                    10.

                    rs1490904386 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      15:43377011 (GRCh38)
                      15:43669209 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:43377010:C:T
                      Gene:
                      TUBGCP4 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      HGVS:

                      11.

                      rs1490858509 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        15:43379689 (GRCh38)
                        15:43671887 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:43379688:T:G
                        Gene:
                        TUBGCP4 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0.000071/1 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.000014/2 (GnomAD)
                        HGVS:

                        12.

                        rs1490719792 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          CT>- [Show Flanks]
                          Chromosome:
                          15:43399978 (GRCh38)
                          15:43692176 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:43399976:TCT:T
                          Gene:
                          TUBGCP4 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          -=0.000011/3 (TOPMED)
                          -=0.000014/2 (GnomAD)
                          HGVS:

                          13.

                          rs1490676537 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            15:43369187 (GRCh38)
                            15:43661385 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:43369186:A:T
                            Gene:
                            TUBGCP4 (Varview), ZSCAN29 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:

                            14.

                            rs1490556317 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              15:43400915 (GRCh38)
                              15:43693113 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:43400914:C:T
                              Gene:
                              TUBGCP4 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000022/3 (GnomAD)
                              T=0.000042/11 (TOPMED)
                              HGVS:

                              15.

                              rs1490464225 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                15:43406999 (GRCh38)
                                15:43699197 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:43406998:C:T
                                Gene:
                                TP53BP1 (Varview), TUBGCP4 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant,genic_downstream_transcript_variant,downstream_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:
                                NC_000015.10:g.43406999C>T, NC_000015.9:g.43699197C>T, NG_042168.1:g.40941C>T, NM_014444.5:c.*1785C>T, NM_014444.4:c.*1785C>T, NM_014444.3:c.*1785C>T, NM_001286414.3:c.*1785C>T, NM_001286414.2:c.*1785C>T, NM_001286414.1:c.*1785C>T, NM_005657.4:c.*384G>A, NM_005657.3:c.*384G>A, XM_011521454.4:c.*1785C>T, XM_011521454.3:c.*1785C>T, XM_011521454.2:c.*1785C>T, XM_011521454.1:c.*1785C>T, NM_001141980.3:c.*384G>A, NM_001141980.2:c.*384G>A, NM_001141979.3:c.*384G>A, NM_001141979.2:c.*384G>A, XM_017022078.3:c.*1785C>T, XM_017022078.2:c.*1785C>T, XM_017022078.1:c.*1785C>T, XM_011521455.3:c.*1785C>T, XM_011521455.2:c.*1785C>T, XM_011521455.1:c.*1785C>T, NM_001355001.2:c.*384G>A, NM_001355001.1:c.*384G>A, XM_047432995.1:c.*384G>A, XM_047432994.1:c.*384G>A, XM_047432996.1:c.*384G>A, NM_001411050.1:c.*384G>A, XM_047432390.1:c.*1785C>T, XM_047432391.1:c.*1785C>T

                                16.

                                rs1490413361 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ATATATATATATATATATATT>- [Show Flanks]
                                  Chromosome:
                                  15:43386359 (GRCh38)
                                  15:43678557 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:43386357:TATATATATATATATATATATT:T
                                  Gene:
                                  TUBGCP4 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.00008/1 (ALFA)
                                  -=0.00007/3 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1490358187 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    15:43375550 (GRCh38)
                                    15:43667748 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:43375549:A:C
                                    Gene:
                                    TUBGCP4 (Varview)
                                    Functional Consequence:
                                    intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1490325750 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      15:43395097 (GRCh38)
                                      15:43687295 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:43395096:G:A
                                      Gene:
                                      TUBGCP4 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (GnomAD_exomes)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1490230304 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        15:43398601 (GRCh38)
                                        15:43690799 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:43398600:G:A
                                        Gene:
                                        TUBGCP4 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000007/1 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1490145244 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          CAAT>- [Show Flanks]
                                          Chromosome:
                                          15:43406216 (GRCh38)
                                          15:43698414 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:43406212:AATCAAT:AAT
                                          Gene:
                                          TP53BP1 (Varview), TUBGCP4 (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          AAT=0./0 (ALFA)
                                          -=0.000004/1 (TOPMED)
                                          -=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000015.10:g.43406216_43406219del, NC_000015.9:g.43698414_43698417del, NG_042168.1:g.40158_40161del, NM_014444.5:c.*1002_*1005del, NM_014444.4:c.*1002_*1005del, NM_014444.3:c.*1002_*1005del, NM_001286414.3:c.*1002_*1005del, NM_001286414.2:c.*1002_*1005del, NM_001286414.1:c.*1002_*1005del, NM_005657.4:c.*1167_*1170del, NM_005657.3:c.*1167_*1170del, XM_011521454.4:c.*1002_*1005del, XM_011521454.3:c.*1002_*1005del, XM_011521454.2:c.*1002_*1005del, XM_011521454.1:c.*1002_*1005del, NM_001141980.3:c.*1167_*1170del, NM_001141980.2:c.*1167_*1170del, NM_001141979.3:c.*1167_*1170del, NM_001141979.2:c.*1167_*1170del, XM_017022078.3:c.*1002_*1005del, XM_017022078.2:c.*1002_*1005del, XM_017022078.1:c.*1002_*1005del, XM_011521455.3:c.*1002_*1005del, XM_011521455.2:c.*1002_*1005del, XM_011521455.1:c.*1002_*1005del, NM_001355001.2:c.*1167_*1170del, NM_001355001.1:c.*1167_*1170del, XM_047432995.1:c.*1167_*1170del, XM_047432994.1:c.*1167_*1170del, XM_047432996.1:c.*1167_*1170del, NM_001411050.1:c.*1167_*1170del, XM_047432390.1:c.*1002_*1005del, XM_047432391.1:c.*1002_*1005del

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