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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAH12_chr3_57288700_57549344 | 57390424 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01517.hp1 NA18970.hp2 NA20905.hp1 |
a0001a0071 | a0001c0001a0071c0072 | a0001c0001t0001a0071c0072t0001 | a0001c0001t0001g0192 a0001c0001t0001g0211 a0071c0072t0001g0208 |
3 | 84 | 0.0357 | 30 | c.730 others(49): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02630.hp2 HG02897.hp1 others(2): Show |
a0001a0046 | a0001c0001a0001c0027a0046c0060 | a0001c0001t0001a0001c0027t0001a0046c0060t0001 | a0001c0001t0001g0172 a0001c0001t0001g0196 a0001c0001t0001g0231 others(2): Show |
5 | 86 | 0.0581 | 30 | c.730 others(49): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0191 | 1 | 82 | 0.0122 | 30 | c.730 others(49): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | |||||||
DNAH14_chr1_224924675_225404286 | 225335760 | T | TATGTGCA others(23): Show |
intron_variant | MODIFIER | HG01515.hp2 HG02300.hp1 HG02683.hp2 others(6): Show |
a0001a0062a0098 | a0001c0001a0062c0098a0098c0067 | a0001c0001t0001a0062c0098t0001a0098c0067t0001 | a0001c0001t0001g0034 a0001c0001t0001g0132 a0001c0001t0001g0147 others(6): Show |
9 | 183 | 0.0492 | 30 | c.100 others(51): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225374145 | C | CTATATAT others(23): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0059 | a0059c0114 | a0059c0114t0001 | a0059c0114t0001g0191 | 1 | 15 | 0.0667 | 30 | c.123 others(49): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 77/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78460321 | C | CGTGCATG others(23): Show |
intron_variant | MODIFIER | HG01106.hp1 HG03486.hp2 HG03834.hp1 others(2): Show |
a0038a0104a0118others(2): Show | a0038c0037a0104c0177a0118c0153others(2): Show | a0038c0037t0002a0104c0177t0001a0118c0153t0001others(2): Show | a0038c0037t0002g0101 a0104c0177t0001g0245 a0118c0153t0001g0032 others(2): Show |
5 | 59 | 0.0847 | 30 | c.934 others(45): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 58/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78478014 | T | TCATCACC others(23): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01261.hp2 HG01884.hp1 others(15): Show |
a0001a0002a0003others(12): Show | a0001c0113a0002c0161a0003c0081others(13): Show | a0001c0113t0001a0002c0161t0003a0003c0081t0001others(13): Show | a0001c0113t0001g0098 a0002c0161t0003g0246 a0003c0081t0001g0024 others(15): Show |
18 | 207 | 0.0870 | 30 | c.799 others(49): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 51/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78543287 | G | GTATTTTT others(23): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0073 | a0073c0097 | a0073c0097t0001 | a0073c0097t0001g0105 | 1 | 155 | 0.0065 | 30 | c.253 others(47): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | |||||||
DNAH2_chr17_7712744_7838742 | 7725425 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG01168.hp1 HG02280.hp2 HG02572.hp1 others(3): Show |
a0020a0021a0027others(2): Show | a0020c0113a0021c0024a0027c0076others(2): Show | a0020c0113t0002a0021c0024t0002a0021c0024t0003others(3): Show | a0020c0113t0002g0079 a0021c0024t0002g0253 a0021c0024t0003g0251 others(3): Show |
6 | 119 | 0.0504 | 30 | c.229 others(47): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 3/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7780797 | C | CAGCCTTT others(23): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0054 | 1 | 314 | 0.0032 | 30 | c.600 others(45): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 38/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 20984029 | G | GAAAAAAG others(23): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0037 | a0037c0077 | a0037c0077t0001 | a0037c0077t0001g0229 | 1 | 106 | 0.0094 | 30 | c.755 others(49): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 48/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21020348 | G | GTGTGTAT others(23): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01516.hp1 HG02258.hp2 |
a0001a0003a0030 | a0001c0002a0003c0005a0030c0069 | a0001c0002t0001a0003c0005t0001a0030c0069t0001 | a0001c0002t0001g0031 a0003c0005t0001g0188 a0030c0069t0001g0119 |
3 | 59 | 0.0508 | 30 | c.563 others(47): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21020348 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0068 | 1 | 57 | 0.0175 | 30 | c.563 others(47): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21020397 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0165 | 1 | 116 | 0.0086 | 30 | c.563 others(47): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21067776 | G | GGAGAGAG others(23): Show |
intron_variant | MODIFIER | HG02738.hp2 NA19010.hp1 |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0002c0006t0001 | a0001c0001t0001g0020 a0002c0006t0001g0113 |
2 | 36 | 0.0556 | 30 | c.324 others(47): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 23/61 | chr16 | TogoVar | |||||||
DNAH5_chr5_13685328_13949688 | 13713124 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0095 | a0095c0197 | a0095c0197t0014 | a0095c0197t0014g0224 | 1 | 241 | 0.0041 | 30 | c.131 others(51): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 75/78 | chr5 | TogoVar | |||||||
DNAH5_chr5_13685328_13949688 | 13778598 | G | GAAAGAAA others(23): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0023 | a0023c0008 | a0023c0008t0002 | a0023c0008t0002g0216 | 1 | 215 | 0.0047 | 30 | c.895 others(49): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 53/78 | chr5 | TogoVar | |||||||
DNAH5_chr5_13685328_13949688 | 13842433 | A | AAGAGAGA others(23): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0033 | a0033c0183 | a0033c0183t0002 | a0033c0183t0002g0140 | 1 | 153 | 0.0065 | 30 | c.527 others(47): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 32/78 | chr5 | TogoVar | |||||||
DNAH5_chr5_13685328_13949688 | 13842437 | A | AAGAAAGA others(23): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0097 | a0097c0064 | a0097c0064t0001 | a0097c0064t0001g0021 | 1 | 161 | 0.0062 | 30 | c.527 others(47): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 32/78 | chr5 | TogoVar | |||||||
DNAH7_chr2_195732703_196073837 | 195766167 | A | ATTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03225.hp2 HG03516.hp1 others(2): Show |
a0010 | a0010c0009 | a0010c0009t0002 | a0010c0009t0002g0039 a0010c0009t0002g0040 a0010c0009t0002g0043 others(2): Show |
5 | 69 | 0.0725 | 30 | c.114 others(51): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 61/64 | chr2 | TogoVar | |||||||
DNAH7_chr2_195732703_196073837 | 195778677 | C | CACACACA others(23): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01070.hp2 HG01071.hp1 others(6): Show |
a0006a0008 | a0006c0007a0008c0010a0008c0021 | a0006c0007t0006a0008c0010t0005a0008c0021t0001 | a0006c0007t0006g0243 a0006c0007t0006g0256 a0008c0010t0005g0247 others(6): Show |
9 | 202 | 0.0446 | 30 | c.108 others(49): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 58/64 | chr2 | TogoVar | |||||||
DNAH7_chr2_195732703_196073837 | 195976747 | C | CAGAGAGA others(23): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0040 | a0040c0071 | a0040c0071t0003 | a0040c0071t0003g0090 | 1 | 12 | 0.0833 | 30 | c.183 others(49): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 15/64 | chr2 | TogoVar | |||||||
DNAH8_chr6_38710311_39035792 | 38715960 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0015 | a0015c0044 | a0015c0044t0001 | a0015c0044t0001g0268 | 1 | 101 | 0.0099 | 30 | c.-35 others(45): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 1/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAI1_chr9_34453805_34525984 | 34492493 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | HG01070.hp2 NA19088.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0002 | a0001c0001t0001g0148 a0003c0003t0002g0064 |
2 | 24 | 0.0833 | 30 | c.682 others(45): Show |
DNAI1 | ENSG00000122735.16 | transcript | ENST00000242317.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DNAI4_chr1_66807885_66929856 | 66893055 | G | GAAAGAAA others(23): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02723.hp1 |
a0007 | a0007c0011 | a0007c0011t0001 | a0007c0011t0001g0072 a0007c0011t0001g0169 |
2 | 234 | 0.0085 | 30 | c.530 others(45): Show |
DNAI4 | ENSG00000152763.17 | transcript | ENST00000371026.8 | protein_coding | 3/16 | chr1 | TogoVar | |||||||
DNAI4_chr1_66807885_66929856 | 66893075 | A | AAGAAAGA others(23): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0215 | 1 | 255 | 0.0039 | 30 | c.530 others(45): Show |
DNAI4 | ENSG00000152763.17 | transcript | ENST00000371026.8 | protein_coding | 3/16 | chr1 | TogoVar | |||||||
DNAI7_chr12_25103289_25200160 | 25108825 | T | TAAAAAAA others(23): Show |
splice_region_variant others(1): Show |
LOW | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 2 | 0.5000 | 30 | c.189 others(43): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 15/15 | chr12 | TogoVar | |||||||
DNAI7_chr12_25103289_25200160 | 25120317 | G | GGAGAGAG others(23): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01081.hp2 HG02083.hp1 others(7): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0037 a0001c0001t0001g0046 a0001c0001t0001g0058 others(7): Show |
10 | 56 | 0.1786 | 30 | c.124 others(49): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 11/15 | chr12 | TogoVar | |||||||
DNAJA1_chr9_33020273_33044907 | 33027886 | T | TGGTGGTG others(23): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 442 | 0.0023 | 30 | c.310 others(45): Show |
DNAJA1 | ENSG00000086061.16 | transcript | ENST00000330899.5 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DNAJB6_chr7_157332004_157422439 | 157369950 | A | ACATTATT others(23): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 | 1 | 367 | 0.0027 | 30 | c.346 others(47): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 5/9 | chr7 | TogoVar | |||||||
DNAJB6_chr7_157332004_157422439 | 157370142 | A | ACATTATT others(23): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03130.hp2 HG03195.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0035 a0001c0001t0002g0033 a0001c0001t0003g0032 others(1): Show |
4 | 366 | 0.0109 | 30 | c.346 others(47): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 5/9 | chr7 | TogoVar | |||||||
DNAJC11_chr1_6629170_6706816 | 6706343 | T | TATATATA others(23): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 258 | 0.0039 | 30 | c.-45 others(41): Show |
DNAJC11 | ENSG00000007923.17 | transcript | ENST00000377577.10 | protein_coding | 4528 | chr1 | TogoVar | |||||||
DNAJC13_chr3_132412502_132544032 | 132487559 | A | ATTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02647.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0295 |
3 | 49 | 0.0612 | 30 | c.326 others(47): 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(23): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02523.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 a0001c0001t0001g0098 |
2 | 60 | 0.0333 | 30 | c.662 others(49): Show |
DNAJC13 | ENSG00000138246.17 | transcript | ENST00000260818.11 | protein_coding | 55/55 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DNAJC16_chr1_15521848_15576733 | 15544151 | T | TACACACA others(23): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01255.hp1 HG01358.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0138 a0001c0002t0003g0143 a0001c0002t0003g0144 others(6): Show |
9 | 121 | 0.0744 | 30 | c.575 others(45): Show |
DNAJC16 | ENSG00000116138.13 | transcript | ENST00000375847.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAJC18_chr5_139405203_139444525 | 139435705 | G | GTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02630.hp1 NA18941.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0053 a0002c0003t0001g0052 |
2 | 23 | 0.0870 | 30 | c.227 others(47): Show |
DNAJC18 | ENSG00000170464.10 | transcript | ENST00000302060.10 | protein_coding | 2/7 | chr5 | TogoVar | |||||||
DNAJC1_chr10_21751548_22008730 | 21910829 | A | AAGGAAAG others(23): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03688.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0076 |
3 | 35 | 0.0857 | 30 | c.730 others(47): Show |
DNAJC1 | ENSG00000136770.11 | transcript | ENST00000376980.8 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
DNAJC25_chr9_111626334_111659345 | 111639898 | C | CTCTCCGT others(23): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0060 | 1 | 404 | 0.0025 | 30 | c.337 others(47): Show |
DNAJC25 | ENSG00000059769.20 | transcript | ENST00000313525.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DNAJC3_chr13_95672139_95799988 | 95693630 | C | CAGTCTTC others(23): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00438.hp1 others(132): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0201 a0001c0001t0001g0207 a0001c0001t0001g0222 others(132): Show |
135 | 372 | 0.3629 | 30 | c.83- others(47): Show |
DNAJC3 | ENSG00000102580.15 | transcript | ENST00000602402.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DNAJC3_chr13_95672139_95799988 | 95704851 | G | GGTTTTTT others(23): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0140 | 1 | 206 | 0.0049 | 30 | c.83- others(45): Show |
DNAJC3 | ENSG00000102580.15 | transcript | ENST00000602402.6 | protein_coding | 1/11 | chr13 | TogoVar | |||||||
DNAJC3_chr13_95672139_95799988 | 95704851 | G | GTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03688.hp1 NA18979.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005 | a0001c0001t0003g0103 a0001c0001t0003g0142 a0001c0001t0004g0230 others(2): Show |
5 | 210 | 0.0238 | 30 | c.83- others(45): Show |
DNAJC3 | ENSG00000102580.15 | transcript | ENST00000602402.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DNAJC6_chr1_65304543_65420871 | 65417065 | C | CATATATA others(23): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00597.hp1 others(12): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0003others(4): Show | a0001c0001t0001g0017 a0001c0001t0001g0046 a0001c0001t0001g0060 others(12): Show |
15 | 156 | 0.0962 | 30 | c.*40 others(41): Show |
DNAJC6 | ENSG00000116675.16 | transcript | ENST00000371069.5 | protein_coding | 1195 | chr1 | TogoVar | |||||||
DNAL1_chr14_73639986_73708732 | 73648403 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00639.hp1 HG01496.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0019a0001c0001t0022others(3): Show | a0001c0001t0014g0145 a0001c0001t0019g0311 a0001c0001t0022g0040 others(3): Show |
6 | 56 | 0.1071 | 30 | c.3+3 others(43): Show |
DNAL1 | ENSG00000119661.15 | transcript | ENST00000553645.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DNAL1_chr14_73639986_73708732 | 73648412 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0085 | 1 | 336 | 0.0030 | 30 | c.3+3 others(43): Show |
DNAL1 | ENSG00000119661.15 | transcript | ENST00000553645.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DNAL1_chr14_73639986_73708732 | 73681623 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0200 | 1 | 274 | 0.0036 | 30 | c.265 others(47): Show |
DNAL1 | ENSG00000119661.15 | transcript | ENST00000553645.7 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DNASE1L1_chrX_154396236_154414254 | 154396712 | A | ATATATAT others(23): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0006 | 1 | 157 | 0.0064 | 30 | c.*59 others(41): Show |
DNASE1L1 | ENSG00000013563.14 | transcript | ENST00000369807.6 | protein_coding | 4523 | chrX | TogoVar | |||||||
DNASE1L1_chrX_154396236_154414254 | 154396712 | A | ATATATAT others(23): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0041 | 1 | 157 | 0.0064 | 30 | c.*59 others(41): Show |
DNASE1L1 | ENSG00000013563.14 | transcript | ENST00000369807.6 | protein_coding | 4523 | chrX | TogoVar | |||||||
DNASE1L1_chrX_154396236_154414254 | 154396712 | A | ATATATAT others(23): Show |
downstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0039 | 1 | 157 | 0.0064 | 30 | c.*59 others(41): Show |
DNASE1L1 | ENSG00000013563.14 | transcript | ENST00000369807.6 | protein_coding | 4523 | chrX | TogoVar | |||||||
DNASE1L1_chrX_154396236_154414254 | 154396712 | A | ATATATAT others(23): Show |
downstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0052 | 1 | 157 | 0.0064 | 30 | c.*59 others(41): Show |
DNASE1L1 | ENSG00000013563.14 | transcript | ENST00000369807.6 | protein_coding | 4523 | chrX | TogoVar | |||||||
DNASE1L1_chrX_154396236_154414254 | 154396712 | A | ATATATAT others(23): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0007 | 1 | 157 | 0.0064 | 30 | c.*59 others(41): Show |
DNASE1L1 | ENSG00000013563.14 | transcript | ENST00000369807.6 | protein_coding | 4523 | chrX | TogoVar |