view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DLAT_chr11_112020408_112069404 | 112067685 | A | AAAAAAAA others(30): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG03669.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0002c0002t0002 | a0001c0001t0007g0134 a0001c0001t0007g0135 a0002c0002t0002g0309 |
3 | 83 | 0.0361 | 37 | c.*51 others(48): Show |
DLAT | ENSG00000150768.18 | transcript | ENST00000280346.11 | protein_coding | 3282 | chr11 | TogoVar | |||||||
DLAT_chr11_112020408_112069404 | 112067685 | A | AAAAAAAT others(30): Show |
downstream_gene_variant | MODIFIER | NA19064.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0010 | 1 | 81 | 0.0123 | 37 | c.*51 others(48): Show |
DLAT | ENSG00000150768.18 | transcript | ENST00000280346.11 | protein_coding | 3282 | chr11 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13219037 | A | ATTATATA others(30): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01361.hp1 HG01884.hp1 others(22): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0004a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(16): Show | a0001c0001t0001g0072 a0001c0001t0003g0023 a0001c0001t0003g0074 others(22): Show |
25 | 115 | 0.2174 | 37 | c.134 others(58): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 881666 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0007 | 1 | 26 | 0.0385 | 37 | c.19- others(54): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1098590 | A | ACCAGGCT others(30): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01071.hp1 HG01361.hp2 others(5): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0010others(2): Show | a0001c0002t0002a0001c0002t0009a0001c0002t0023others(4): Show | a0001c0002t0002g0022 a0001c0002t0009g0039 a0001c0002t0023g0005 others(5): Show |
8 | 37 | 0.2162 | 37 | c.74- others(56): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1098650 | A | ACGCCGCC others(30): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01361.hp1 HG01496.hp1 others(4): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0001a0001c0002t0010a0001c0002t0022others(4): Show | a0001c0002t0001g0015 a0001c0002t0010g0008 a0001c0002t0022g0034 others(4): Show |
7 | 15 | 0.4667 | 37 | c.74- others(56): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1098761 | G | GCGCCGCC others(30): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0001 | a0002c0001t0019 | a0002c0001t0019g0031 | 1 | 39 | 0.0256 | 37 | c.74- others(56): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1287709 | G | GTGTGGTT others(30): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0037 | 1 | 23 | 0.0435 | 37 | c.106 others(56): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1470974 | G | GCTTTTCC others(30): Show |
intron_variant | MODIFIER | HG02922.hp2 HG02976.hp1 |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0019 | a0002c0001t0002g0032 a0002c0001t0019g0031 |
2 | 40 | 0.0500 | 37 | c.107 others(56): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | chr8 | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32312942 | C | CAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0010 | a0010c0014 | a0010c0014t0001 | a0010c0014t0001g0014 | 1 | 28 | 0.0357 | 37 | c.592 others(56): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 41/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32863509 | C | CAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0003 | a0003c0008 | a0003c0008t0003 | a0003c0008t0003g0116 | 1 | 70 | 0.0143 | 37 | c.94- others(54): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 33108868 | G | GAAAAAAA others(30): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0016 | a0016c0041 | a0016c0041t0001 | a0016c0041t0001g0109 | 1 | 14 | 0.0714 | 37 | c.32- others(54): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | |||||||
DMTN_chr8_22051814_22087525 | 22086825 | A | ACCGGAGC others(30): Show |
downstream_gene_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 322 | 0.0031 | 37 | c.*53 others(48): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 4301 | chr8 | TogoVar | |||||||
DMWD_chr19_45777947_45797845 | 45795879 | G | GTCTCCTC others(30): Show |
upstream_gene_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 438 | 0.0023 | 37 | c.-31 others(48): Show |
DMWD | ENSG00000185800.12 | transcript | ENST00000270223.7 | protein_coding | 3035 | chr19 | TogoVar | |||||||
DNAAF1_chr16_84140308_84182918 | 84148596 | C | CTCTCTTT others(30): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02647.hp2 HG02717.hp2 |
a0001a0005 | a0001c0008a0005c0009 | a0001c0008t0001a0005c0009t0001 | a0001c0008t0001g0053 a0005c0009t0001g0051 a0005c0009t0001g0052 |
3 | 80 | 0.0375 | 37 | c.125 others(52): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55155713 | T | TGGGGACT others(30): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0121 | 1 | 378 | 0.0026 | 37 | c.*33 others(48): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 2951 | chr19 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55158198 | G | GCCCCAGC others(30): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0065 | 1 | 391 | 0.0026 | 37 | c.*86 others(46): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 466 | chr19 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55170873 | T | TCTCTCTC others(30): Show |
upstream_gene_variant | MODIFIER | NA19060.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0002 | 1 | 383 | 0.0026 | 37 | c.-43 others(48): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4261 | chr19 | TogoVar | |||||||
DNAAF4_chr15_55425308_55513234 | 55433950 | A | ATAATATT others(30): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0316 | 1 | 310 | 0.0032 | 37 | c.104 others(54): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 8/9 | chr15 | TogoVar | |||||||
DNAAF4_chr15_55425308_55513234 | 55433995 | A | AATATTAT others(30): Show |
intron_variant | MODIFIER | HG00423.hp1 NA18944.hp1 NA18957.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 a0001c0001t0001g0189 a0001c0001t0001g0198 others(2): Show |
5 | 146 | 0.0342 | 37 | c.104 others(54): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 8/9 | chr15 | TogoVar | |||||||
DNAH11_chr7_21538039_21906839 | 21803740 | A | AGAATGGG others(30): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02717.hp2 HG02809.hp2 others(3): Show |
a0028a0119a0130others(2): Show | a0028c0013a0119c0164a0130c0135others(2): Show | a0028c0013t0001a0119c0164t0005a0130c0135t0003others(2): Show | a0028c0013t0001g0090 a0028c0013t0001g0101 a0119c0164t0005g0013 others(3): Show |
6 | 296 | 0.0203 | 37 | c.101 others(58): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 62/81 | chr7 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57361444 | C | CTATATAT others(30): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0017 | a0017c0009 | a0017c0009t0001 | a0017c0009t0001g0116 | 1 | 143 | 0.0070 | 37 | c.936 others(56): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 58/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0014 | a0014c0011 | a0014c0011t0001 | a0014c0011t0001g0071 | 1 | 59 | 0.0169 | 37 | c.133 others(56): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0008 | a0008c0017 | a0008c0017t0001 | a0008c0017t0001g0104 | 1 | 59 | 0.0169 | 37 | c.133 others(56): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78431406 | T | TGGGGGTG others(30): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0109 | a0001c0109t0001 | a0001c0109t0001g0216 | 1 | 250 | 0.0040 | 37 | c.122 others(58): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 75/80 | chr17 | TogoVar | |||||||
DNAH2_chr17_7712744_7838742 | 7725440 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | NA19056.hp1 NA19064.hp2 |
a0007a0017 | a0007c0027a0017c0118 | a0007c0027t0001a0017c0118t0001 | a0007c0027t0001g0144 a0017c0118t0001g0131 |
2 | 277 | 0.0072 | 37 | c.229 others(54): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 3/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7725440 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0163 | 1 | 276 | 0.0036 | 37 | c.229 others(54): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 3/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21067772 | G | GGGGGGAG others(30): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0089 | a0002c0089t0001 | a0002c0089t0001g0146 | 1 | 170 | 0.0059 | 37 | c.324 others(54): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 23/61 | chr16 | TogoVar | |||||||
DNAH6_chr2_84511498_84824589 | 84598159 | C | CTTTCTTT others(30): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0012 | a0012c0017 | a0012c0017t0001 | a0012c0017t0001g0116 | 1 | 102 | 0.0098 | 37 | c.286 others(56): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 18/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195950851 | C | CAAAAAAA others(30): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0094 | 1 | 40 | 0.0250 | 37 | c.307 others(56): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 19/64 | chr2 | TogoVar | |||||||
DNAH7_chr2_195732703_196073837 | 195961423 | A | ATCATTCT others(30): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00621.hp1 others(35): Show |
a0002a0027a0046 | a0002c0002a0002c0054a0002c0059others(2): Show | a0002c0002t0001a0002c0054t0001a0002c0059t0001others(2): Show | a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 others(35): Show |
38 | 254 | 0.1496 | 37 | c.220 others(54): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 17/64 | chr2 | TogoVar | |||||||
DNAI2_chr17_74269234_74319884 | 74296333 | G | GAGGAGAG others(30): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0328 | 1 | 322 | 0.0031 | 37 | c.725 others(54): Show |
DNAI2 | ENSG00000171595.14 | transcript | ENST00000311014.11 | protein_coding | 6/13 | chr17 | TogoVar | |||||||
DNAI7_chr12_25103289_25200160 | 25108825 | T | TAAAAAAA others(30): Show |
splice_region_variant others(1): Show |
LOW | HG01981.hp1 HG02293.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0198 a0002c0002t0001g0204 |
2 | 3 | 0.6667 | 37 | c.189 others(50): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 15/15 | chr12 | TogoVar | |||||||
DNAI7_chr12_25103289_25200160 | 25120342 | G | GAGAGAGA others(30): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 333 | 0.0030 | 37 | c.124 others(56): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 11/15 | chr12 | TogoVar | |||||||
DNAJB6_chr7_157332004_157422439 | 157411220 | T | TTCCCTGC others(30): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(234): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(234): Show |
237 | 326 | 0.7270 | 37 | c.898 others(54): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAJB6_chr7_157332004_157422439 | 157411333 | T | TTCCCTGC others(30): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03225.hp2 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 a0001c0001t0002g0146 a0001c0001t0002g0268 |
3 | 306 | 0.0098 | 37 | c.898 others(54): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAJC11_chr1_6629170_6706816 | 6706419 | C | CCGGTCGG others(30): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0297 | 1 | 364 | 0.0027 | 37 | c.-46 others(48): Show |
DNAJC11 | ENSG00000007923.17 | transcript | ENST00000377577.10 | protein_coding | 4604 | chr1 | TogoVar | |||||||
DNAJC13_chr3_132412502_132544032 | 132487559 | A | ATTTTTTT others(30): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0150 | 1 | 47 | 0.0213 | 37 | c.326 others(54): Show |
DNAJC13 | ENSG00000138246.17 | transcript | ENST00000260818.11 | protein_coding | 29/55 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DNAJC18_chr5_139405203_139444525 | 139435705 | G | GTTTTTTT others(30): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0051 | 1 | 22 | 0.0455 | 37 | c.227 others(54): Show |
DNAJC18 | ENSG00000170464.10 | transcript | ENST00000302060.10 | protein_coding | 2/7 | chr5 | TogoVar | |||||||
DNAJC3_chr13_95672139_95799988 | 95704851 | G | GTTTTTTT others(30): Show |
intron_variant | MODIFIER | HG00609.hp2 NA19001.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0236 a0001c0001t0004g0237 |
2 | 207 | 0.0097 | 37 | c.83- others(52): Show |
DNAJC3 | ENSG00000102580.15 | transcript | ENST00000602402.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DNAJC4_chr11_64225548_64239281 | 64237126 | G | GAGAGAGA others(30): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 NA18992.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 |
2 | 234 | 0.0085 | 37 | c.*29 others(48): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2846 | chr11 | TogoVar | |||||||
DNASE1L1_chrX_154396236_154414254 | 154396712 | A | ATATATAT others(30): Show |
downstream_gene_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0044 | 1 | 157 | 0.0064 | 37 | c.*59 others(48): Show |
DNASE1L1 | ENSG00000013563.14 | transcript | ENST00000369807.6 | protein_coding | 4523 | chrX | TogoVar | |||||||
DNM3_chr1_171836498_172417717 | 171970697 | C | CATTACTA others(30): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01081.hp1 HG01243.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0039 others(11): Show |
14 | 134 | 0.1045 | 37 | c.236 others(56): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 172304206 | C | CAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG01516.hp1 HG02523.hp1 HG03669.hp2 |
a0001 | a0001c0003a0001c0007 | a0001c0003t0002a0001c0007t0018 | a0001c0003t0002g0117 a0001c0003t0002g0120 a0001c0007t0018g0006 |
3 | 75 | 0.0400 | 37 | c.177 others(56): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNMBP_chr10_99870577_100014947 | 99892230 | C | CCCGGCCG others(30): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01516.hp1 HG02896.hp2 others(4): Show |
a0001 | a0001c0009 | a0001c0009t0005 | a0001c0009t0005g0168 a0001c0009t0005g0236 a0001c0009t0005g0250 others(4): Show |
7 | 272 | 0.0257 | 37 | c.315 others(56): Show |
DNMBP | ENSG00000107554.17 | transcript | ENST00000324109.9 | protein_coding | 11/16 | chr10 | TogoVar | |||||||
DOC2B_chr17_137789_186650 | 154107 | T | TGCACCTG others(30): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02257.hp1 HG02257.hp2 others(4): Show |
a0001a0002 | a0001c0002a0002c0006 | a0001c0002t0026a0001c0002t0028a0001c0002t0029others(1): Show | a0001c0002t0026g0040 a0001c0002t0028g0265 a0001c0002t0029g0037 others(3): Show |
7 | 338 | 0.0207 | 37 | c.923 others(54): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 6/8 | chr17 | TogoVar | |||||||
DOC2B_chr17_137789_186650 | 154261 | C | CGCTACAC others(30): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02040.hp1 NA18944.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0033 others(10): Show |
15 | 87 | 0.1724 | 37 | c.923 others(54): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 6/8 | chr17 | TogoVar | |||||||
DOCK10_chr2_224760090_225047468 | 224921112 | A | AAAAATAT others(30): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0120 a0002c0002t0001g0121 |
2 | 43 | 0.0465 | 37 | c.244 others(54): Show |
DOCK10 | ENSG00000135905.21 | transcript | ENST00000258390.12 | protein_coding | 2/55 | chr2 | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 126947388 | A | AGTTGGTA others(30): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0002 | a0002c0074 | a0002c0074t0001 | a0002c0074t0001g0107 | 1 | 59 | 0.0169 | 37 | c.47- others(54): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126947448 | G | GTGGTGGT others(30): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0090 | 1 | 75 | 0.0133 | 37 | c.47- others(54): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |