regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DYNC2LI1_chr2_43769039_43815010 | 43801634 | C | T | splice_region_variant others(1): Show |
LOW | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 294 | 0.0034 | 0 | c.732 others(5): Show |
DYNC2LI1 | ENSG00000138036.18 | transcript | ENST00000260605.12 | protein_coding | 9/12 | chr2 | TogoVar | ||||||
DYNLL2_chr17_58078419_58100542 | 58089138 | T | C | splice_region_variant others(1): Show |
LOW | HG02451.hp1 HG02895.hp2 HG02897.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015a0001c0001t0002g0018 | 5 | 306 | 0.0163 | 0 | c.133 others(5): Show |
DYNLL2 | ENSG00000264364.3 | transcript | ENST00000579991.3 | protein_coding | 2/2 | chr17 | TogoVar | ||||||
DYNLRB1_chr20_34511422_34545958 | 34534800 | G | A | splice_region_variant others(1): Show |
LOW | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 384 | 0.0026 | 0 | c.247 others(5): Show |
DYNLRB1 | ENSG00000125971.18 | transcript | ENST00000357156.7 | protein_coding | 3/3 | chr20 | TogoVar | ||||||
DYNLRB2_chr16_80535993_80555811 | 80541086 | C | A | splice_region_variant others(1): Show |
LOW | NA19012.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0033 | 1 | 416 | 0.0024 | 0 | c.3+7 others(3): Show |
DYNLRB2 | ENSG00000168589.15 | transcript | ENST00000305904.11 | protein_coding | 1/3 | chr16 | TogoVar | ||||||
DYNLT1_chr6_158631474_158649743 | 158637772 | G | A | splice_region_variant others(1): Show |
LOW | HG03710.hp2 NA20805.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0024 | 2 | 396 | 0.0051 | 0 | c.192 others(3): Show |
p.Ile others(5): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 3/5 | 227/730 | 192/342 | 64/113 | chr6 | TogoVar | ||
DYRK1A_chr21_37361773_37531358 | 37505276 | C | T | splice_region_variant others(1): Show |
LOW | HG03098.hp1 | a0001 | a0001c0003 | a0001c0003t0056 | a0001c0003t0056g0317 | 1 | 350 | 0.0029 | 0 | c.121 others(6): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 9/11 | chr21 | TogoVar | ||||||
DYRK1B_chr19_39820350_39839162 | 39828587 | C | T | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00280.hp2 HG01168.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0017a0001c0001t0001g0053others(1): Show | 9 | 372 | 0.0242 | 0 | c.521 others(5): Show |
DYRK1B | ENSG00000105204.14 | transcript | ENST00000323039.10 | protein_coding | 5/10 | chr19 | TogoVar | ||||||
DYRK1B_chr19_39820350_39839162 | 39830032 | T | C | splice_region_variant others(1): Show |
LOW | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 372 | 0.0027 | 0 | c.373 others(5): Show |
DYRK1B | ENSG00000105204.14 | transcript | ENST00000323039.10 | protein_coding | 4/10 | chr19 | TogoVar | ||||||
DYRK4_chr12_4557208_4618875 | 4567952 | C | T | splice_region_variant others(1): Show |
LOW | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 414 | 0.0024 | 0 | c.39- others(4): Show |
DYRK4 | ENSG00000010219.14 | transcript | ENST00000543431.6 | protein_coding | 1/14 | chr12 | TogoVar | ||||||
DYRK4_chr12_4557208_4618875 | 4596151 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(95): Show |
a0001a0005 | a0001c0002a0001c0004a0001c0017others(3): Show | a0001c0002t0001a0001c0004t0001a0001c0017t0001others(3): Show | a0001c0002t0001g0005a0001c0002t0001g0018a0001c0002t0001g0045others(91): Show | 98 | 414 | 0.2367 | 0 | c.630 others(3): Show |
p.Val others(6): Show |
DYRK4 | ENSG00000010219.14 | transcript | ENST00000543431.6 | protein_coding | 7/15 | 668/2065 | 630/1905 | 210/634 | chr12 | TogoVar | ||
DYRK4_chr12_4557208_4618875 | 4599708 | A | G | missense_variant others(1): Show |
MODERATE | HG01884.hp1 | a0010 | a0010c0027 | a0010c0027t0001 | a0010c0027t0001g0255 | 1 | 414 | 0.0024 | 0 | c.104 others(4): Show |
p.Glu others(6): Show |
DYRK4 | ENSG00000010219.14 | transcript | ENST00000543431.6 | protein_coding | 10/15 | 1084/2065 | 1046/1905 | 349/634 | chr12 | TogoVar | ||
DYSF_chr2_71448561_71691763 | 71516246 | T | C | splice_region_variant others(1): Show |
LOW | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(19): Show |
a0001a0002a0004others(4): Show | a0001c0004a0001c0005a0001c0013others(14): Show | a0001c0004t0001a0001c0005t0001a0001c0013t0001others(15): Show | a0001c0004t0001g0149a0001c0005t0001g0056a0001c0013t0001g0057others(19): Show | 22 | 192 | 0.1146 | 0 | c.855 others(5): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 8/54 | chr2 | TogoVar | ||||||
DYSF_chr2_71448561_71691763 | 71528407 | G | C | splice_region_variant others(1): Show |
LOW | NA18906.hp2 | a0007 | a0007c0028 | a0007c0028t0004 | a0007c0028t0004g0047 | 1 | 192 | 0.0052 | 0 | c.128 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 13/54 | chr2 | TogoVar | ||||||
DYSF_chr2_71448561_71691763 | 71535096 | C | T | splice_region_variant others(1): Show |
LOW | HG00738.hp2 | a0019 | a0019c0061 | a0019c0061t0001 | a0019c0061t0001g0128 | 1 | 192 | 0.0052 | 0 | c.135 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 14/54 | chr2 | TogoVar | ||||||
DYSF_chr2_71448561_71691763 | 71570231 | C | T | splice_region_variant others(1): Show |
LOW | HG03209.hp2 | a0001 | a0001c0041 | a0001c0041t0002 | a0001c0041t0002g0144 | 1 | 192 | 0.0052 | 0 | c.292 others(4): Show |
p.Asn others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 28/55 | 3366/6952 | 2928/6243 | 976/2080 | chr2 | TogoVar | ||
DYSF_chr2_71448561_71691763 | 71611467 | C | A | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00438.hp2 HG00558.hp1 others(77): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0006others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0037a0001c0001t0001g0042a0001c0001t0001g0043others(77): Show | 80 | 192 | 0.4167 | 0 | c.400 others(4): Show |
p.Ile others(7): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 38/55 | 4446/6952 | 4008/6243 | 1336/2080 | chr2 | TogoVar | ||
DYSF_chr2_71448561_71691763 | 71656162 | G | A | missense_variant others(1): Show |
MODERATE | HG01884.hp2 | a0023 | a0023c0032 | a0023c0032t0001 | a0023c0032t0001g0191 | 1 | 192 | 0.0052 | 0 | c.451 others(4): Show |
p.Val others(7): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 42/55 | 4948/6952 | 4510/6243 | 1504/2080 | chr2 | TogoVar | ||
DYSF_chr2_71448561_71691763 | 71674302 | C | T | splice_region_variant others(1): Show |
LOW | NA19088.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0123 | 1 | 192 | 0.0052 | 0 | c.576 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 51/54 | chr2 | TogoVar | ||||||
DYSF_chr2_71461699_71691763 | 71513241 | C | T | splice_region_variant others(1): Show |
LOW | NA19240.hp2 | a0006 | a0006c0076 | a0006c0076t0004 | a0006c0076t0004g0019 | 1 | 208 | 0.0048 | 0 | c.462 others(3): Show |
p.Gly others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 6/56 | 606/6775 | 462/6360 | 154/2119 | chr2 | TogoVar | ||
DYSF_chr2_71461699_71691763 | 71516246 | T | C | splice_region_variant others(1): Show |
LOW | HG00438.hp1 HG00735.hp2 HG01074.hp1 others(19): Show |
a0001a0002a0004others(4): Show | a0001c0005a0001c0009a0001c0024others(14): Show | a0001c0005t0001a0001c0009t0001a0001c0024t0001others(15): Show | a0001c0005t0001g0087a0001c0009t0001g0089a0001c0024t0001g0054others(19): Show | 22 | 208 | 0.1058 | 0 | c.951 others(5): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 9/55 | chr2 | TogoVar | ||||||
DYSF_chr2_71461699_71691763 | 71528407 | G | C | splice_region_variant others(1): Show |
LOW | NA18906.hp1 | a0009 | a0009c0029 | a0009c0029t0005 | a0009c0029t0005g0084 | 1 | 208 | 0.0048 | 0 | c.138 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | TogoVar | ||||||
DYSF_chr2_71461699_71691763 | 71535096 | C | T | splice_region_variant others(1): Show |
LOW | HG00738.hp2 | a0021 | a0021c0064 | a0021c0064t0001 | a0021c0064t0001g0058 | 1 | 208 | 0.0048 | 0 | c.144 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 15/55 | chr2 | TogoVar | ||||||
DYSF_chr2_71461699_71691763 | 71570231 | C | T | splice_region_variant others(1): Show |
LOW | HG03209.hp2 | a0001 | a0001c0042 | a0001c0042t0001 | a0001c0042t0001g0141 | 1 | 208 | 0.0048 | 0 | c.298 others(4): Show |
p.Asn others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 28/56 | 3126/6775 | 2982/6360 | 994/2119 | chr2 | TogoVar | ||
DYSF_chr2_71461699_71691763 | 71611467 | C | A | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00438.hp2 HG00558.hp1 others(86): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0006others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(86): Show | 89 | 208 | 0.4279 | 0 | c.406 others(4): Show |
p.Ile others(7): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 38/56 | 4206/6775 | 4062/6360 | 1354/2119 | chr2 | TogoVar | ||
DYSF_chr2_71461699_71691763 | 71656162 | G | A | missense_variant others(1): Show |
MODERATE | HG01884.hp1 | a0025 | a0025c0033 | a0025c0033t0002 | a0025c0033t0002g0152 | 1 | 208 | 0.0048 | 0 | c.462 others(4): Show |
p.Val others(7): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 43/56 | 4771/6775 | 4627/6360 | 1543/2119 | chr2 | TogoVar | ||
DYSF_chr2_71461699_71691763 | 71674302 | C | T | splice_region_variant others(1): Show |
LOW | NA19088.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0047 | 1 | 208 | 0.0048 | 0 | c.588 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 52/55 | chr2 | TogoVar | ||||||
DYTN_chr2_206646621_206723396 | 206694875 | T | C | missense_variant others(1): Show |
MODERATE | HG01884.hp1 HG02055.hp1 HG02109.hp2 others(19): Show |
a0003a0011a0013 | a0003c0003a0011c0013a0013c0021 | a0003c0003t0001a0011c0013t0001a0013c0021t0001 | a0003c0003t0001g0001a0003c0003t0001g0108a0003c0003t0001g0161others(17): Show | 22 | 382 | 0.0576 | 0 | c.722 others(3): Show |
p.Tyr others(6): Show |
DYTN | ENSG00000232125.5 | transcript | ENST00000452335.2 | protein_coding | 8/12 | 839/2051 | 722/1737 | 241/578 | chr2 | TogoVar | ||
DZANK1_chr20_18378367_18472030 | 18385013 | T | C | splice_region_variant others(1): Show |
LOW | HG01891.hp1 HG02886.hp2 NA19030.hp2 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0010a0001c0015t0010 | a0001c0001t0010g0277a0001c0015t0010g0178a0001c0015t0010g0245 | 3 | 374 | 0.0080 | 0 | c.216 others(6): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 20/20 | chr20 | TogoVar | ||||||
DZANK1_chr20_18378367_18472030 | 18390466 | G | T | splice_region_variant others(1): Show |
LOW | HG02717.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0223 | 1 | 374 | 0.0027 | 0 | c.188 others(6): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 17/20 | chr20 | TogoVar | ||||||
DZANK1_chr20_18378367_18472030 | 18396472 | C | T | splice_region_variant others(1): Show |
LOW | NA19077.hp2 | a0001 | a0001c0025 | a0001c0025t0001 | a0001c0025t0001g0173 | 1 | 374 | 0.0027 | 0 | c.168 others(4): Show |
p.Lys others(6): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 15/21 | 1740/3420 | 1686/2334 | 562/777 | chr20 | TogoVar | ||
DZANK1_chr20_18378367_18472030 | 18412859 | C | A | splice_region_variant others(1): Show |
LOW | HG00621.hp2 HG01167.hp2 HG01358.hp2 others(22): Show |
a0001a0006a0007others(2): Show | a0001c0007a0001c0015a0006c0009others(3): Show | a0001c0007t0004a0001c0007t0013a0001c0015t0004others(5): Show | a0001c0007t0004g0022a0001c0007t0004g0117a0001c0007t0004g0201others(19): Show | 25 | 374 | 0.0668 | 0 | c.130 others(6): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 12/20 | chr20 | TogoVar | ||||||
DZANK1_chr20_18378367_18472030 | 18412860 | G | A | splice_region_variant others(1): Show |
LOW | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0007 | a0001c0007t0008 | a0001c0007t0008g0243a0001c0007t0008g0244 | 2 | 374 | 0.0054 | 0 | c.130 others(6): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 12/20 | chr20 | TogoVar | ||||||
DZANK1_chr20_18378367_18472030 | 18415447 | C | T | splice_region_variant others(1): Show |
LOW | HG02818.hp2 HG04228.hp1 NA18947.hp1 others(6): Show |
a0006a0010a0018 | a0006c0009a0010c0029a0018c0030 | a0006c0009t0001a0006c0009t0005a0010c0029t0005others(1): Show | a0006c0009t0001g0146a0006c0009t0005g0012a0006c0009t0005g0145others(5): Show | 9 | 374 | 0.0241 | 0 | c.101 others(4): Show |
p.Ser others(6): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 11/21 | 1068/3420 | 1014/2334 | 338/777 | chr20 | TogoVar | ||
DZANK1_chr20_18378367_18472030 | 18452737 | C | T | missense_variant others(1): Show |
MODERATE | HG00621.hp2 HG01358.hp2 HG01934.hp1 others(3): Show |
a0007a0011 | a0007c0011a0011c0021 | a0007c0011t0007a0011c0021t0002 | a0007c0011t0007g0004a0007c0011t0007g0028a0007c0011t0007g0029others(2): Show | 6 | 374 | 0.0160 | 0 | c.478 others(3): Show |
p.Val others(6): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 6/21 | 532/3420 | 478/2334 | 160/777 | chr20 | TogoVar | ||
DZANK1_chr20_18378367_18472030 | 18452738 | G | A | splice_region_variant others(1): Show |
LOW | HG01167.hp2 HG02647.hp1 HG02886.hp2 others(2): Show |
a0001a0013 | a0001c0015a0013c0035 | a0001c0015t0004a0001c0015t0010a0013c0035t0011 | a0001c0015t0004g0259a0001c0015t0004g0260a0001c0015t0010g0178others(2): Show | 5 | 374 | 0.0134 | 0 | c.477 others(3): Show |
p.Asp others(6): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 6/21 | 531/3420 | 477/2334 | 159/777 | chr20 | TogoVar | ||
DZANK1_chr20_18378367_18472030 | 18465380 | C | A | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(232): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0006others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0293a0001c0001t0001g0333a0001c0001t0002g0026others(212): Show | 235 | 374 | 0.6283 | 0 | c.-19 others(5): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 1/20 | chr20 | TogoVar | ||||||
DZANK1_chr20_18378367_18472030 | 18465382 | A | C | splice_region_variant others(1): Show |
LOW | HG00735.hp1 HG01109.hp2 HG01261.hp2 others(14): Show |
a0001 | a0001c0002a0001c0007a0001c0010 | a0001c0002t0001a0001c0002t0002a0001c0007t0012others(1): Show | a0001c0002t0001g0099a0001c0002t0001g0100a0001c0002t0001g0101others(14): Show | 17 | 374 | 0.0455 | 0 | c.-19 others(5): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 1/20 | chr20 | TogoVar | ||||||
DZIP1L_chr3_138056990_138120608 | 138068143 | G | T | splice_region_variant others(1): Show |
LOW | HG01167.hp2 HG01169.hp1 HG02109.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0045 | 8 | 312 | 0.0256 | 0 | c.183 others(6): Show |
DZIP1L | ENSG00000158163.15 | transcript | ENST00000327532.7 | protein_coding | 13/15 | chr3 | TogoVar | ||||||
DZIP1L_chr3_138056990_138120608 | 138103471 | C | A | splice_region_variant others(1): Show |
LOW | HG03225.hp2 | a0001 | a0001c0020 | a0001c0020t0003 | a0001c0020t0003g0122 | 1 | 312 | 0.0032 | 0 | c.501 others(3): Show |
p.Thr others(6): Show |
DZIP1L | ENSG00000158163.15 | transcript | ENST00000327532.7 | protein_coding | 2/16 | 863/3492 | 501/2304 | 167/767 | chr3 | TogoVar | ||
DZIP1_chr13_95573202_95649706 | 95578204 | G | A | splice_region_variant | LOW | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0087 | 1 | 382 | 0.0026 | 0 | c.*40 others(5): Show |
DZIP1 | ENSG00000134874.18 | transcript | ENST00000376829.7 | protein_coding | 23/23 | chr13 | TogoVar | ||||||
DZIP1_chr13_95573202_95649706 | 95643211 | CGGGGAAT others(38): Show |
C | splice_region_variant | LOW | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0011 | 1 | 382 | 0.0026 | -45 | c.-42 others(54): Show |
DZIP1 | ENSG00000134874.18 | transcript | ENST00000376829.7 | protein_coding | 3/23 | chr13 | TogoVar | ||||||
DZIP1_chr13_95573202_95649706 | 95643602 | T | C | splice_region_variant | LOW | NA19064.hp1 | a0003 | a0003c0003 | a0003c0003t0039 | a0003c0003t0039g0322 | 1 | 382 | 0.0026 | 0 | c.-42 others(4): Show |
DZIP1 | ENSG00000134874.18 | transcript | ENST00000376829.7 | protein_coding | 2/23 | chr13 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108616657 | C | T | splice_region_variant others(1): Show |
LOW | HG01106.hp1 HG01891.hp1 HG01891.hp2 others(4): Show |
a0001a0006 | a0001c0004a0006c0014 | a0001c0004t0004a0001c0004t0010a0001c0004t0015others(1): Show | a0001c0004t0004g0012a0001c0004t0004g0013a0001c0004t0004g0014others(4): Show | 7 | 318 | 0.0220 | 0 | c.375 others(3): Show |
p.Thr others(6): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 5/33 | 565/5304 | 375/3627 | 125/1208 | chr3 | TogoVar | ||
DZIP3_chr3_108584722_108699840 | 108629184 | A | C | splice_region_variant others(1): Show |
LOW | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0020 | 1 | 318 | 0.0031 | 0 | c.696 others(5): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 8/32 | chr3 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108646610 | A | G | splice_region_variant others(1): Show |
LOW | HG02723.hp1 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0010 | 1 | 318 | 0.0031 | 0 | c.176 others(6): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 14/32 | chr3 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108654142 | C | T | splice_region_variant others(1): Show |
LOW | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 318 | 0.0031 | 0 | c.203 others(6): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 18/32 | chr3 | TogoVar | ||||||
E2F1_chr20_33670477_33691385 | 33679979 | G | C | splice_region_variant others(1): Show |
LOW | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 382 | 0.0026 | 0 | c.353 others(5): Show |
E2F1 | ENSG00000101412.13 | transcript | ENST00000343380.6 | protein_coding | 2/6 | chr20 | TogoVar | ||||||
E2F4_chr16_67187155_67203918 | 67192369 | C | T | splice_region_variant others(1): Show |
LOW | HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 2 | 320 | 0.0063 | 0 | c.135 others(5): Show |
E2F4 | ENSG00000205250.9 | transcript | ENST00000379378.8 | protein_coding | 1/9 | chr16 | TogoVar | ||||||
E2F5_chr8_85172154_85219518 | 85206219 | T | A | missense_variant others(1): Show |
MODERATE | NA20300.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0013 | 1 | 336 | 0.0030 | 0 | c.549 others(3): Show |
p.Asn others(6): Show |
E2F5 | ENSG00000133740.11 | transcript | ENST00000416274.7 | protein_coding | 4/8 | 816/1964 | 549/1041 | 183/346 | chr8 | TogoVar | ||
E2F7_chr12_77016251_77070569 | 77024192 | A | C | splice_region_variant others(1): Show |
LOW | HG02257.hp2 HG02486.hp2 HG02886.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0154a0001c0001t0001g0167a0001c0002t0001g0021others(2): Show | 7 | 394 | 0.0178 | 0 | c.256 others(6): Show |
E2F7 | ENSG00000165891.16 | transcript | ENST00000322886.12 | protein_coding | 12/12 | chr12 | TogoVar |