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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DMPK_chr19_45764717_45787490 | 45770204 | C | CCAGCAGC others(20): Show |
3_prime_UTR_variant | MODIFIER | HG03704.hp1 | a0008 | a0008c0015 | a0008c0015t0001 | a0008c0015t0001g0077 | 1 | 6 | 0.1667 | 27 | c.*25 others(36): Show |
DMPK | ENSG00000104936.20 | transcript | ENST00000291270.9 | protein_coding | 15/15 | 283 | chr19 | TogoVar | ||||||
DMRTC1B_chrX_72771890_72853803 | 72777006 | C | CCTCCTCC others(20): Show |
5_prime_UTR_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0018 | 1 | 26 | 0.0385 | 27 | c.-32 others(36): Show |
DMRTC1B | ENSG00000184911.15 | transcript | ENST00000334036.10 | protein_coding | 1/7 | 68118 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DNAAF1_chr16_84140308_84182918 | 84148596 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG03710.hp1 NA18954.hp1 NA18981.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0362 a0001c0001t0002g0364 a0002c0002t0001g0363 |
3 | 80 | 0.0375 | 27 | c.125 others(42): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55433995 | A | ATTATATA others(20): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 142 | 0.0070 | 27 | c.104 others(44): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 8/9 | chr15 | TogoVar | |||||||
DNAAF9_chr20_3244306_3412669 | 3310333 | A | AAAAGAAA others(20): Show |
intron_variant | MODIFIER | HG02486.hp1 NA18949.hp1 NA18955.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0005a0001c0003t0026 | a0001c0003t0004g0026 a0001c0003t0005g0001 a0001c0003t0005g0331 others(2): Show |
6 | 48 | 0.1250 | 27 | c.167 others(46): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 20/36 | chr20 | TogoVar | |||||||
DNAAF9_chr20_3244306_3412669 | 3310333 | A | AAAGAAAG others(20): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 43 | 0.0233 | 27 | c.167 others(46): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 20/36 | chr20 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123911778 | G | GGGGGGTC others(20): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02145.hp1 others(8): Show |
a0007a0009a0013others(8): Show | a0007c0097a0009c0008a0013c0080others(8): Show | a0007c0097t0001a0009c0008t0001a0013c0080t0001others(8): Show | a0007c0097t0001g0126 a0009c0008t0001g0011 a0013c0080t0001g0004 others(8): Show |
11 | 157 | 0.0701 | 27 | c.101 others(48): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911990 | G | GGGGGGTC others(20): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00741.hp2 HG01168.hp1 others(24): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0041others(11): Show | a0001c0001t0001a0001c0002t0002a0001c0041t0001others(11): Show | a0001c0001t0001g0020 a0001c0001t0001g0058 a0001c0001t0001g0059 others(24): Show |
27 | 163 | 0.1656 | 27 | c.101 others(48): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21612554 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0162 | a0162c0163 | a0162c0163t0005 | a0162c0163t0005g0089 | 1 | 104 | 0.0096 | 27 | c.385 others(46): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 20/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57302567 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG01361.hp2 HG04228.hp2 NA20905.hp1 |
a0001a0071 | a0001c0001a0071c0072 | a0001c0001t0001a0071c0072t0001 | a0001c0001t0001g0145 a0001c0001t0001g0172 a0071c0072t0001g0208 |
3 | 101 | 0.0297 | 27 | c.111 others(46): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57302567 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0085 | a0001c0085t0001 | a0001c0085t0001g0250 | 1 | 99 | 0.0101 | 27 | c.111 others(46): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57302567 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | NA19089.hp2 | a0002 | a0002c0023 | a0002c0023t0001 | a0002c0023t0001g0142 | 1 | 99 | 0.0101 | 27 | c.111 others(46): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57302567 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG02735.hp2 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 a0001c0001t0001g0242 |
2 | 100 | 0.0200 | 27 | c.111 others(46): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57302567 | A | ATATATGT others(20): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0013 | a0013c0010 | a0013c0010t0002 | a0013c0010t0002g0253 | 1 | 99 | 0.0101 | 27 | c.111 others(46): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57333329 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03041.hp1 HG03139.hp1 |
a0023a0047 | a0023c0074a0023c0075a0047c0045 | a0023c0074t0002a0023c0075t0002a0047c0045t0002 | a0023c0074t0002g0257 a0023c0075t0002g0256 a0047c0045t0002g0012 |
3 | 149 | 0.0201 | 27 | c.997 others(46): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 62/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 82 | 0.0122 | 27 | c.730 others(46): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | AAAAAAAT others(20): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0088 | 1 | 82 | 0.0122 | 27 | c.730 others(46): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57499643 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0016 | a0016c0043 | a0016c0043t0002 | a0016c0043t0002g0079 | 1 | 261 | 0.0038 | 27 | c.133 others(46): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78425756 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0006 | a0006c0223 | a0006c0223t0001 | a0006c0223t0001g0121 | 1 | 6 | 0.1667 | 27 | c.129 others(46): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 79/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438425 | A | AAGGAGGA others(20): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0007 | a0007c0168 | a0007c0168t0001 | a0007c0168t0001g0172 | 1 | 224 | 0.0045 | 27 | c.118 others(46): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78447803 | A | ATGCCCAA others(20): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00735.hp2 HG01106.hp1 others(51): Show |
a0001a0002a0003others(40): Show | a0001c0105a0001c0114a0002c0050others(48): Show | a0001c0105t0001a0001c0114t0001a0002c0050t0002others(48): Show | a0001c0105t0001g0056 a0001c0114t0001g0154 a0002c0050t0002g0004 others(51): Show |
54 | 250 | 0.2160 | 27 | c.112 others(48): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 69/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78478014 | T | TCACCATT others(20): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02258.hp1 HG02976.hp1 others(2): Show |
a0005a0042a0068others(2): Show | a0005c0053a0042c0202a0068c0221others(2): Show | a0005c0053t0001a0042c0202t0002a0068c0221t0001others(2): Show | a0005c0053t0001g0176 a0042c0202t0002g0119 a0068c0221t0001g0139 others(2): Show |
5 | 194 | 0.0258 | 27 | c.799 others(46): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 51/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78544800 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02895.hp2 |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0148 a0004c0006t0001g0149 |
2 | 50 | 0.0400 | 27 | c.239 others(44): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 16/80 | chr17 | TogoVar | |||||||
DNAH7_chr2_195732703_196073837 | 195766167 | A | ATTTTTTT others(20): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02922.hp2 NA18944.hp1 others(5): Show |
a0001a0011a0035 | a0001c0001a0001c0047a0011c0015others(1): Show | a0001c0001t0002a0001c0047t0002a0011c0015t0002others(1): Show | a0001c0001t0002g0169 a0001c0001t0002g0188 a0001c0001t0002g0200 others(5): Show |
8 | 72 | 0.1111 | 27 | c.114 others(48): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 61/64 | chr2 | TogoVar | |||||||
DNAH8_chr6_38710311_39035792 | 38715960 | A | ATATATTT others(20): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0008 | a0008c0018 | a0008c0018t0001 | a0008c0018t0001g0016 | 1 | 101 | 0.0099 | 27 | c.-35 others(42): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 1/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38818537 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0043 | a0043c0115 | a0043c0115t0001 | a0043c0115t0001g0225 | 1 | 72 | 0.0139 | 27 | c.352 others(46): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 26/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11960435 | T | TAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01257.hp1 NA20129.hp1 |
a0001a0002 | a0001c0003a0002c0005 | a0001c0003t0001a0002c0005t0001 | a0001c0003t0001g0170 a0002c0005t0001g0081 |
2 | 62 | 0.0323 | 27 | c.128 others(48): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 67/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAI7_chr12_25103289_25200160 | 25108825 | T | TAAAAAAA others(20): Show |
splice_region_variant others(1): Show |
LOW | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 2 | 0.5000 | 27 | c.189 others(40): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 15/15 | chr12 | TogoVar | |||||||
DNAI7_chr12_25103289_25200160 | 25120317 | G | GAGAGAGA others(20): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 47 | 0.0213 | 27 | c.124 others(46): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 11/15 | chr12 | TogoVar | |||||||
DNAJB6_chr7_157332004_157422439 | 157369730 | A | ATCATTAT others(20): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0364 | 1 | 369 | 0.0027 | 27 | c.346 others(44): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAJB6_chr7_157332004_157422439 | 157369868 | A | ATCATTAT others(20): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 369 | 0.0027 | 27 | c.346 others(44): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAJB6_chr7_157332004_157422439 | 157369868 | A | ATCATTAT others(20): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0364 | 1 | 369 | 0.0027 | 27 | c.346 others(44): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAJB6_chr7_157332004_157422439 | 157369990 | A | AGGTCTTT others(20): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03130.hp2 HG03195.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0035 a0001c0001t0002g0033 a0001c0001t0003g0032 others(1): Show |
4 | 365 | 0.0110 | 27 | c.346 others(44): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAJC13_chr3_132412502_132544032 | 132487559 | A | ATTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0269 | 1 | 47 | 0.0213 | 27 | c.326 others(44): Show |
DNAJC13 | ENSG00000138246.17 | transcript | ENST00000260818.11 | protein_coding | 29/55 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DNAJC13_chr3_132412502_132544032 | 132532912 | A | AATTATTA others(20): Show |
intron_variant | MODIFIER | HG02135.hp2 HG02965.hp2 NA18993.hp1 |
a0001 | a0001c0001a0001c0018 | a0001c0001t0001a0001c0018t0001 | a0001c0001t0001g0085 a0001c0001t0001g0101 a0001c0018t0001g0068 |
3 | 61 | 0.0492 | 27 | c.662 others(46): Show |
DNAJC13 | ENSG00000138246.17 | transcript | ENST00000260818.11 | protein_coding | 55/55 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DNAJC18_chr5_139405203_139444525 | 139435705 | G | GTTTTTTT others(20): Show |
intron_variant | MODIFIER | NA19091.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 a0001c0001t0001g0057 |
2 | 23 | 0.0870 | 27 | c.227 others(44): Show |
DNAJC18 | ENSG00000170464.10 | transcript | ENST00000302060.10 | protein_coding | 2/7 | chr5 | TogoVar | |||||||
DNAJC1_chr10_21751548_22008730 | 21908013 | A | AATAATAT others(20): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 162 | 0.0062 | 27 | c.730 others(44): Show |
DNAJC1 | ENSG00000136770.11 | transcript | ENST00000376980.8 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
DNAJC3_chr13_95672139_95799988 | 95704851 | G | GTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02886.hp2 HG02922.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0046 | a0001c0001t0004g0215 a0001c0001t0005g0347 a0001c0001t0005g0349 others(2): Show |
5 | 210 | 0.0238 | 27 | c.83- others(42): Show |
DNAJC3 | ENSG00000102580.15 | transcript | ENST00000602402.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DNAJC6_chr1_65304543_65420871 | 65368706 | C | CCTCTTCC others(20): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(221): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0003a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(59): Show | a0001c0001t0001g0105 a0001c0001t0003g0104 a0001c0001t0005g0071 others(212): Show |
224 | 320 | 0.7000 | 27 | c.543 others(44): Show |
DNAJC6 | ENSG00000116675.16 | transcript | ENST00000371069.5 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNASE1L1_chrX_154396236_154414254 | 154396712 | A | ATATATAT others(20): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0004 | 1 | 157 | 0.0064 | 27 | c.*59 others(38): Show |
DNASE1L1 | ENSG00000013563.14 | transcript | ENST00000369807.6 | protein_coding | 4523 | chrX | TogoVar | |||||||
DNASE1L1_chrX_154396236_154414254 | 154396712 | A | ATATATAT others(20): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0004 | 1 | 157 | 0.0064 | 27 | c.*59 others(38): Show |
DNASE1L1 | ENSG00000013563.14 | transcript | ENST00000369807.6 | protein_coding | 4523 | chrX | TogoVar | |||||||
DNASE1L1_chrX_154396236_154414254 | 154396713 | T | TATATATA others(20): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0024 | 1 | 252 | 0.0040 | 27 | c.*59 others(38): Show |
DNASE1L1 | ENSG00000013563.14 | transcript | ENST00000369807.6 | protein_coding | 4522 | chrX | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229554941 | A | AGAGAAGA others(20): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 78 | 0.0128 | 27 | c.848 others(44): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 4/12 | chr2 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229556200 | T | TGAACTCG others(20): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 174 | 0.0057 | 27 | c.848 others(44): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 4/12 | chr2 | TogoVar | |||||||
DNM1L_chr12_32674301_32750650 | 32717214 | A | AATATATA others(20): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0017 | 1 | 228 | 0.0044 | 27 | c.620 others(44): Show |
DNM1L | ENSG00000087470.21 | transcript | ENST00000549701.6 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNM1L_chr12_32674301_32750650 | 32717944 | A | AATATAGT others(20): Show |
intron_variant | MODIFIER | NA18994.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 a0001c0001t0001g0191 |
2 | 227 | 0.0088 | 27 | c.620 others(42): Show |
DNM1L | ENSG00000087470.21 | transcript | ENST00000549701.6 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNM2_chr19_10713079_10836903 | 10726218 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 a0001c0002t0001g0007 |
2 | 260 | 0.0077 | 27 | c.161 others(44): Show |
DNM2 | ENSG00000079805.19 | transcript | ENST00000389253.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 172106847 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0052 | 1 | 12 | 0.0833 | 27 | c.154 others(48): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNMBP_chr10_99870577_100014947 | 99879101 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0139 | 1 | 239 | 0.0042 | 27 | c.454 others(44): Show |
DNMBP | ENSG00000107554.17 | transcript | ENST00000324109.9 | protein_coding | 16/16 | chr10 | TogoVar | |||||||
DNMBP_chr10_99870577_100014947 | 99970971 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01517.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0182 a0002c0002t0001g0209 |
2 | 78 | 0.0256 | 27 | c.145 others(43): Show |
DNMBP | ENSG00000107554.17 | transcript | ENST00000324109.9 | protein_coding | 2/16 | chr10 | TogoVar |