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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DMTN_chr8_22051814_22087525 | 22079269 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0038 | 1 | 267 | 0.0037 | 22 | c.836 others(37): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DMTN_chr8_22051814_22087525 | 22079273 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0019 | 1 | 247 | 0.0040 | 22 | c.836 others(37): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DMTN_chr8_22051814_22087525 | 22079277 | A | AATAAATA others(15): Show |
intron_variant | MODIFIER | HG02165.hp2 HG03486.hp2 NA18954.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0034 a0001c0001t0001g0114 a0001c0001t0001g0160 others(1): Show |
4 | 146 | 0.0274 | 22 | c.836 others(37): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119077830 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02630.hp1 HG02723.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 others(2): Show |
5 | 236 | 0.0212 | 22 | c.87+ others(37): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119173774 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG01243.hp2 NA18522.hp2 |
a0001a0012 | a0001c0043a0012c0018 | a0001c0043t0002a0012c0018t0001 | a0001c0043t0002g0047 a0012c0018t0001g0214 |
2 | 212 | 0.0094 | 22 | c.668 others(41): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 25/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119173776 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01167.hp2 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(3): Show | a0001c0001t0001g0168 a0001c0002t0001g0176 a0002c0003t0001g0065 others(7): Show |
10 | 72 | 0.1389 | 22 | c.668 others(41): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 25/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119173776 | G | GTGTATAT others(15): Show |
intron_variant | MODIFIER | HG03516.hp1 NA19030.hp1 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0002a0001c0012t0016 | a0001c0001t0002g0048 a0001c0012t0016g0217 |
2 | 64 | 0.0313 | 22 | c.668 others(41): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 25/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119173776 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG03209.hp2 others(2): Show |
a0001a0015a0026 | a0001c0004a0015c0025a0026c0022 | a0001c0004t0003a0015c0025t0003a0026c0022t0003 | a0001c0004t0003g0009 a0001c0004t0003g0010 a0001c0004t0003g0012 others(2): Show |
5 | 67 | 0.0746 | 22 | c.668 others(41): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 25/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119202887 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG03041.hp2 NA19030.hp1 |
a0001 | a0001c0012 | a0001c0012t0012a0001c0012t0016 | a0001c0012t0012g0218 a0001c0012t0016g0217 |
2 | 227 | 0.0088 | 22 | c.774 others(39): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 32/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51502306 | T | TTGTGTGT others(15): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0317 | 1 | 188 | 0.0053 | 22 | c.299 others(39): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 17/43 | chr15 | TogoVar | |||||||
DMXL2_chr15_51442791_51627771 | 51576183 | T | TAAAAAAA others(15): Show |
splice_region_variant others(1): Show |
LOW | HG02615.hp1 HG03516.hp2 NA20129.hp1 |
a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0154 a0006c0012t0001g0155 a0006c0012t0001g0156 |
3 | 136 | 0.0221 | 22 | c.88- others(31): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 1/43 | chr15 | TogoVar | |||||||
DNA2_chr10_68409064_68476973 | 68427650 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | HG01123.hp1 NA18747.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0048 a0001c0003t0003g0086 |
2 | 192 | 0.0104 | 22 | c.220 others(41): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 14/20 | chr10 | TogoVar | |||||||
DNAAF10_chr2_68124805_68162527 | 68130107 | G | GATATATA others(15): Show |
3_prime_UTR_variant | MODIFIER | HG03209.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0049 a0001c0001t0026g0050 |
2 | 189 | 0.0106 | 22 | c.*11 others(33): Show |
DNAAF10 | ENSG00000243667.7 | transcript | ENST00000295121.11 | protein_coding | 8/8 | 1130 | chr2 | TogoVar | ||||||
DNAAF11_chr8_132565416_132680545 | 132593332 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0180 | 1 | 47 | 0.0213 | 22 | c.114 others(41): Show |
DNAAF11 | ENSG00000129295.10 | transcript | ENST00000620350.5 | protein_coding | 10/11 | chr8 | TogoVar | |||||||
DNAAF1_chr16_84140308_84182918 | 84148596 | C | CTCTCTTT others(15): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00733.hp2 others(13): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0004t0001others(5): Show | a0001c0001t0002g0184 a0001c0001t0003g0017 a0001c0001t0003g0177 others(11): Show |
16 | 93 | 0.1720 | 22 | c.125 others(37): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DNAAF1_chr16_84140308_84182918 | 84148596 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01256.hp2 HG01975.hp2 others(7): Show |
a0002a0007a0010others(2): Show | a0002c0002a0007c0010a0010c0013others(2): Show | a0002c0002t0001a0007c0010t0002a0010c0013t0001others(2): Show | a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 others(6): Show |
10 | 87 | 0.1149 | 22 | c.125 others(37): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DNAAF1_chr16_84140308_84182918 | 84168827 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0291 | 1 | 28 | 0.0357 | 22 | c.103 others(41): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DNAAF2_chr14_49620174_49640244 | 49630669 | C | CCACACAC others(15): Show |
intron_variant | MODIFIER | HG01891.hp2 HG01934.hp2 HG02698.hp2 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0059 a0003c0003t0002g0060 a0003c0003t0002g0083 |
3 | 160 | 0.0188 | 22 | c.186 others(41): Show |
DNAAF2 | ENSG00000165506.15 | transcript | ENST00000298292.13 | protein_coding | 1/2 | chr14 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55168406 | T | TATATATA others(15): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0050 | 1 | 149 | 0.0067 | 22 | c.-18 others(33): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 1794 | chr19 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55168406 | T | TATATATA others(15): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0050 | 1 | 149 | 0.0067 | 22 | c.-18 others(33): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 1794 | chr19 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55168406 | T | TATATATA others(15): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0030 | 1 | 149 | 0.0067 | 22 | c.-18 others(33): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 1794 | chr19 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55170850 | T | TTCTCTCT others(15): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 HG02080.hp2 HG02572.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0003c0002t0001 | a0001c0001t0001g0017 a0003c0002t0001g0002 a0003c0002t0001g0006 others(3): Show |
9 | 290 | 0.0310 | 22 | c.-43 others(33): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4238 | chr19 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55170872 | C | CTCTCTCT others(15): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0059 | 1 | 340 | 0.0029 | 22 | c.-43 others(33): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4260 | chr19 | TogoVar | |||||||
DNAAF4_chr15_55425308_55513234 | 55455387 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0027 | 1 | 11 | 0.0909 | 22 | c.638 others(39): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
DNAAF5_chr7_721699_791475 | 781598 | C | CTCCCAGC others(15): Show |
intron_variant | MODIFIER | NA18968.hp1 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 2 | 376 | 0.0053 | 22 | c.243 others(41): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAAF5_chr7_721699_791475 | 781606 | G | GGTGCTCA others(15): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01934.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0015 | a0002c0002t0001g0206 a0002c0002t0001g0222 a0002c0002t0001g0223 others(6): Show |
9 | 376 | 0.0239 | 22 | c.243 others(41): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3268897 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0312 | 1 | 149 | 0.0067 | 22 | c.278 others(41): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 30/36 | chr20 | TogoVar | |||||||
DNAAF9_chr20_3244306_3412669 | 3310333 | A | AAAGAAAG others(15): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0328 | 1 | 43 | 0.0233 | 22 | c.167 others(41): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 20/36 | chr20 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123896148 | C | CACACACA others(15): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0070 | a0070c0057 | a0070c0057t0002 | a0070c0057t0002g0133 | 1 | 97 | 0.0103 | 22 | c.928 others(41): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 54/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911342 | G | GGGGTCTG others(15): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0037 | 1 | 168 | 0.0060 | 22 | c.101 others(41): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57333329 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0038 | a0038c0063 | a0038c0063t0002 | a0038c0063t0002g0207 | 1 | 147 | 0.0068 | 22 | c.997 others(41): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 62/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57361444 | C | CACACTAT others(15): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0049 | a0049c0037 | a0049c0037t0002 | a0049c0037t0002g0114 | 1 | 143 | 0.0070 | 22 | c.936 others(41): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 58/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57361444 | C | CACTATAT others(15): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0008 | a0008c0008 | a0008c0008t0002 | a0008c0008t0002g0083 | 1 | 143 | 0.0070 | 22 | c.936 others(41): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 58/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57389822 | G | GTGTATAT others(15): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01257.hp1 |
a0010a0014 | a0010c0015a0014c0011 | a0010c0015t0001a0014c0011t0001 | a0010c0015t0001g0153 a0014c0011t0001g0071 |
2 | 135 | 0.0148 | 22 | c.730 others(41): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0181 | 1 | 82 | 0.0122 | 22 | c.730 others(41): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00621.hp1 NA18944.hp1 NA18962.hp1 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0197 a0005c0005t0001g0221 a0005c0005t0001g0240 |
3 | 84 | 0.0357 | 22 | c.730 others(41): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0077 | a0001c0077t0001 | a0001c0077t0001g0222 | 1 | 82 | 0.0122 | 22 | c.730 others(41): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57499673 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0089 | 1 | 108 | 0.0093 | 22 | c.133 others(41): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57499673 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03579.hp1 |
a0020 | a0020c0020 | a0020c0020t0004 | a0020c0020t0004g0180 a0020c0020t0004g0219 |
2 | 109 | 0.0183 | 22 | c.133 others(41): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | |||||||
DNAH14_chr1_224924675_225404286 | 225034515 | T | TTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG01496.hp2 others(1): Show |
a0003a0005a0088 | a0003c0003a0005c0004a0088c0065 | a0003c0003t0001a0005c0004t0001a0088c0065t0001 | a0003c0003t0001g0043 a0005c0004t0001g0068 a0005c0004t0001g0069 others(1): Show |
4 | 7 | 0.5714 | 22 | c.135 others(41): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225075991 | A | AGCCTGGG others(15): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0046 | a0046c0111 | a0046c0111t0001 | a0046c0111t0001g0135 | 1 | 94 | 0.0106 | 22 | c.242 others(41): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 17/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225075991 | A | AGCCTGGG others(15): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(139): Show |
a0001a0002a0004others(57): Show | a0001c0001a0001c0008a0002c0002others(65): Show | a0001c0001t0001a0001c0008t0001a0002c0002t0001others(65): Show | a0001c0001t0001g0034 a0001c0001t0001g0105 a0001c0001t0001g0132 others(139): Show |
142 | 235 | 0.6043 | 22 | c.242 others(41): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 17/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225082171 | G | GGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG02004.hp1 |
a0001a0017 | a0001c0001a0017c0018 | a0001c0001t0001a0017c0018t0001 | a0001c0001t0001g0172 a0017c0018t0001g0173 a0017c0018t0001g0174 |
3 | 62 | 0.0484 | 22 | c.313 others(39): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 19/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225374145 | C | CTATATAT others(15): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01070.hp2 others(8): Show |
a0003a0004a0014others(6): Show | a0003c0003a0004c0005a0014c0017others(6): Show | a0003c0003t0001a0004c0005t0001a0014c0017t0001others(6): Show | a0003c0003t0001g0043 a0004c0005t0001g0133 a0004c0005t0001g0205 others(8): Show |
11 | 25 | 0.4400 | 22 | c.123 others(41): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 77/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78541240 | T | TGGGGGGG others(15): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0133 | a0133c0024 | a0133c0024t0001 | a0133c0024t0001g0186 | 1 | 217 | 0.0046 | 22 | c.253 others(41): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78544800 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG01074.hp1 others(9): Show |
a0002a0003a0021others(3): Show | a0002c0003a0002c0161a0002c0182others(8): Show | a0002c0003t0001a0002c0161t0003a0002c0182t0001others(8): Show | a0002c0003t0001g0047 a0002c0003t0001g0220 a0002c0161t0003g0246 others(9): Show |
12 | 60 | 0.2000 | 22 | c.239 others(39): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 16/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78558447 | C | CTGACATC others(15): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(49): Show |
a0001a0003a0004others(31): Show | a0001c0001a0001c0031a0001c0040others(46): Show | a0001c0001t0001a0001c0031t0001a0001c0040t0001others(46): Show | a0001c0001t0001g0159 a0001c0001t0001g0188 a0001c0031t0001g0163 others(49): Show |
52 | 150 | 0.3467 | 22 | c.203 others(39): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 13/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78558528 | T | TGGGTGGA others(15): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0112 | a0112c0043 | a0112c0043t0001 | a0112c0043t0001g0075 | 1 | 246 | 0.0041 | 22 | c.203 others(39): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 13/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78570856 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0003 | a0003c0199 | a0003c0199t0002 | a0003c0199t0002g0141 | 1 | 165 | 0.0061 | 22 | c.918 others(35): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 6/80 | chr17 | TogoVar | |||||||
DNAH2_chr17_7712744_7838742 | 7714124 | C | CGTGTGTG others(15): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG00621.hp2 others(5): Show |
a0002a0004a0005others(4): Show | a0002c0007a0004c0008a0005c0020others(5): Show | a0002c0007t0002a0004c0008t0005a0005c0020t0002others(5): Show | a0002c0007t0002g0018 a0004c0008t0005g0073 a0005c0020t0002g0025 others(5): Show |
8 | 25 | 0.3200 | 22 | c.-46 others(33): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 3619 | chr17 | TogoVar |