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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAI7_chr12_25103289_25200160 | 25174489 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01069.hp1 HG01167.hp1 others(35): Show |
a0002a0003a0006others(1): Show | a0002c0002a0003c0003a0006c0009others(1): Show | a0002c0002t0001a0003c0003t0001a0006c0009t0001others(1): Show | a0002c0002t0001g0118 a0002c0002t0001g0235 a0002c0002t0001g0242 others(35): Show |
38 | 263 | 0.1445 | 22 | c.22- others(39): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | |||||||
DNAI7_chr12_25103289_25200160 | 25174626 | G | GATATATA others(15): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 331 | 0.0030 | 22 | c.22- others(39): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | |||||||
DNAI7_chr12_25103289_25200160 | 25174681 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0234 | 1 | 326 | 0.0031 | 22 | c.22- others(39): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | |||||||
DNAI7_chr12_25103289_25200160 | 25174681 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02723.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0326 a0001c0001t0001g0330 a0001c0001t0001g0331 |
3 | 328 | 0.0091 | 22 | c.22- others(39): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | |||||||
DNAI7_chr12_25103289_25200160 | 25174698 | G | GATATCAT others(15): Show |
intron_variant | MODIFIER | HG03492.hp1 HG04228.hp1 |
a0001a0012 | a0001c0001a0012c0007 | a0001c0001t0001a0012c0007t0001 | a0001c0001t0001g0325 a0012c0007t0001g0323 |
2 | 233 | 0.0086 | 22 | c.22- others(39): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | |||||||
DNAI7_chr12_25103289_25200160 | 25174698 | G | GATATCAT others(15): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(82): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0176 a0001c0001t0001g0177 others(80): Show |
85 | 316 | 0.2690 | 22 | c.22- others(39): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | |||||||
DNAI7_chr12_25103289_25200160 | 25199619 | T | TACACACA others(15): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 HG03516.hp2 |
a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0269 a0005c0004t0001g0306 |
2 | 174 | 0.0115 | 22 | c.-45 others(33): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 4460 | chr12 | TogoVar | |||||||
DNAJA1_chr9_33020273_33044907 | 33039536 | C | CATATATA others(15): Show |
3_prime_UTR_variant | MODIFIER | HG01981.hp2 HG02129.hp2 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0006 a0001c0001t0016g0024 a0001c0001t0016g0033 others(1): Show |
4 | 326 | 0.0123 | 22 | c.*64 others(31): Show |
DNAJA1 | ENSG00000086061.16 | transcript | ENST00000330899.5 | protein_coding | 9/9 | 645 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DNAJB11_chr3_186565720_186590793 | 186584602 | A | ATTGTGTG others(15): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01081.hp2 HG01167.hp1 others(18): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 a0002c0002t0001g0018 a0002c0002t0001g0024 others(4): Show |
21 | 26 | 0.8077 | 22 | c.101 others(37): Show |
DNAJB11 | ENSG00000090520.12 | transcript | ENST00000265028.8 | protein_coding | 9/9 | chr3 | TogoVar | |||||||
DNAJB6_chr7_157332004_157422439 | 157340998 | G | GTGTGCGC others(15): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01978.hp2 HG02135.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0340 a0001c0001t0001g0345 a0001c0001t0001g0357 others(2): Show |
5 | 150 | 0.0333 | 22 | c.-27 others(39): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 1/9 | chr7 | TogoVar | |||||||
DNAJC11_chr1_6629170_6706816 | 6706325 | C | CATATATA others(15): Show |
upstream_gene_variant | MODIFIER | HG02965.hp1 HG03130.hp1 HG03195.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0002 | 3 | 246 | 0.0122 | 22 | c.-45 others(33): Show |
DNAJC11 | ENSG00000007923.17 | transcript | ENST00000377577.10 | protein_coding | 4510 | chr1 | TogoVar | |||||||
DNAJC11_chr1_6629170_6706816 | 6706343 | T | TATATATA others(15): Show |
upstream_gene_variant | MODIFIER | HG01928.hp1 HG01952.hp2 HG01993.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0002 | a0001c0001t0001g0217 a0001c0001t0001g0223 a0003c0004t0002g0084 |
3 | 260 | 0.0115 | 22 | c.-45 others(33): Show |
DNAJC11 | ENSG00000007923.17 | transcript | ENST00000377577.10 | protein_coding | 4528 | chr1 | TogoVar | |||||||
DNAJC12_chr10_67791669_67843188 | 67819698 | G | GAAAGAAA others(15): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0116 | 1 | 379 | 0.0026 | 22 | c.157 others(39): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
DNAJC13_chr3_132412502_132544032 | 132487559 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0148 a0001c0001t0002g0298 |
2 | 48 | 0.0417 | 22 | c.326 others(39): Show |
DNAJC13 | ENSG00000138246.17 | transcript | ENST00000260818.11 | protein_coding | 29/55 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DNAJC16_chr1_15521848_15576733 | 15544151 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01070.hp2 HG01071.hp1 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0027a0001c0002t0033 | a0001c0002t0003g0161 a0001c0002t0003g0163 a0001c0002t0003g0164 others(8): Show |
11 | 123 | 0.0894 | 22 | c.575 others(37): 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(15): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00735.hp1 HG01069.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009 | a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 others(11): Show |
15 | 36 | 0.4167 | 22 | c.227 others(39): Show |
DNAJC18 | ENSG00000170464.10 | transcript | ENST00000302060.10 | protein_coding | 2/7 | chr5 | TogoVar | |||||||
DNAJC1_chr10_21751548_22008730 | 21790010 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02896.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0163 a0001c0001t0002g0164 |
2 | 18 | 0.1111 | 22 | c.109 others(43): Show |
DNAJC1 | ENSG00000136770.11 | transcript | ENST00000376980.8 | protein_coding | 9/11 | chr10 | TogoVar | |||||||
DNAJC1_chr10_21751548_22008730 | 21813220 | C | CTCTCTCT others(15): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 54 | 0.0185 | 22 | c.979 others(39): Show |
DNAJC1 | ENSG00000136770.11 | transcript | ENST00000376980.8 | protein_coding | 8/11 | chr10 | TogoVar | |||||||
DNAJC1_chr10_21751548_22008730 | 21813244 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 139 | 0.0072 | 22 | c.979 others(39): Show |
DNAJC1 | ENSG00000136770.11 | transcript | ENST00000376980.8 | protein_coding | 8/11 | chr10 | TogoVar | |||||||
DNAJC1_chr10_21751548_22008730 | 21933561 | C | CAGAAACT others(15): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01928.hp2 HG01993.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 others(1): Show |
4 | 162 | 0.0247 | 22 | c.223 others(39): Show |
DNAJC1 | ENSG00000136770.11 | transcript | ENST00000376980.8 | protein_coding | 1/11 | chr10 | TogoVar | |||||||
DNAJC2_chr7_103307289_103349767 | 103320764 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG02109.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0108 a0001c0001t0002g0118 |
2 | 403 | 0.0050 | 22 | c.108 others(39): Show |
DNAJC2 | ENSG00000105821.15 | transcript | ENST00000379263.8 | protein_coding | 10/16 | chr7 | TogoVar | |||||||
DNAJC3_chr13_95672139_95799988 | 95704851 | G | GTGTTTTT others(15): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0085 | 1 | 206 | 0.0049 | 22 | c.83- others(37): Show |
DNAJC3 | ENSG00000102580.15 | transcript | ENST00000602402.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DNAJC3_chr13_95672139_95799988 | 95704851 | G | GTTTTTTT others(15): Show |
intron_variant | MODIFIER | NA18906.hp2 NA19043.hp1 NA20300.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0009 | a0001c0001t0001g0243 a0001c0001t0005g0351 a0001c0001t0005g0353 others(1): Show |
4 | 209 | 0.0191 | 22 | c.83- others(37): Show |
DNAJC3 | ENSG00000102580.15 | transcript | ENST00000602402.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DNAJC5G_chr2_27270433_27286499 | 27283763 | G | GGCACACA others(15): Show |
downstream_gene_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 337 | 0.0030 | 22 | c.*33 others(33): Show |
DNAJC5G | ENSG00000163793.13 | transcript | ENST00000296097.8 | protein_coding | 2265 | chr2 | TogoVar | |||||||
DNAJC6_chr1_65304543_65420871 | 65380911 | G | GTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02280.hp2 |
a0001a0002 | a0001c0006a0002c0002 | a0001c0006t0015a0002c0002t0001 | a0001c0006t0015g0027 a0002c0002t0001g0168 |
2 | 304 | 0.0066 | 22 | c.666 others(39): Show |
DNAJC6 | ENSG00000116675.16 | transcript | ENST00000371069.5 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAJC6_chr1_65304543_65420871 | 65417064 | C | CTATATAT others(15): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0172 | 1 | 324 | 0.0031 | 22 | c.*40 others(33): Show |
DNAJC6 | ENSG00000116675.16 | transcript | ENST00000371069.5 | protein_coding | 1194 | chr1 | TogoVar | |||||||
DNAJC6_chr1_65304543_65420871 | 65417065 | C | CATATATA others(15): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 HG01168.hp1 HG02451.hp2 others(2): Show |
a0001a0002 | a0001c0003a0001c0005a0001c0012others(1): Show | a0001c0003t0003a0001c0003t0026a0001c0005t0003others(2): Show | a0001c0003t0003g0143 a0001c0003t0026g0240 a0001c0005t0003g0219 others(2): Show |
5 | 146 | 0.0342 | 22 | c.*40 others(33): Show |
DNAJC6 | ENSG00000116675.16 | transcript | ENST00000371069.5 | protein_coding | 1195 | chr1 | TogoVar | |||||||
DNAJC7_chr17_41971435_42022439 | 41986047 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 9 | 0.1111 | 22 | c.101 others(41): Show |
DNAJC7 | ENSG00000168259.17 | transcript | ENST00000457167.9 | protein_coding | 9/13 | chr17 | TogoVar | |||||||
DNAJC8_chr1_28195278_28238029 | 28212168 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 72 | 0.0139 | 22 | c.238 others(39): Show |
DNAJC8 | ENSG00000126698.11 | transcript | ENST00000263697.6 | protein_coding | 3/8 | chr1 | TogoVar | |||||||
DNAL1_chr14_73639986_73708732 | 73648403 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0013 | 1 | 51 | 0.0196 | 22 | c.3+3 others(35): Show |
DNAL1 | ENSG00000119661.15 | transcript | ENST00000553645.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DNAL1_chr14_73639986_73708732 | 73681625 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0205 | 1 | 255 | 0.0039 | 22 | c.265 others(39): 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(15): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0004 | 1 | 157 | 0.0064 | 22 | c.*59 others(33): Show |
DNASE1L1 | ENSG00000013563.14 | transcript | ENST00000369807.6 | protein_coding | 4523 | chrX | TogoVar | |||||||
DNASE1_chr16_3649691_3663095 | 3653806 | C | CAAAAAAA others(15): Show |
upstream_gene_variant | MODIFIER | NA18945.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 49 | 0.0204 | 22 | c.-12 others(33): Show |
DNASE1 | ENSG00000213918.11 | transcript | ENST00000246949.10 | protein_coding | 884 | chr16 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229669369 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG02647.hp2 NA18906.hp1 NA18906.hp2 |
a0001a0002 | a0001c0001a0001c0007a0002c0003 | a0001c0001t0001a0001c0007t0001a0002c0003t0001 | a0001c0001t0001g0010 a0001c0007t0001g0134 a0002c0003t0001g0014 |
3 | 127 | 0.0236 | 22 | c.276 others(41): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
DNHD1_chr11_6492280_6577020 | 6517652 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0020 | a0020c0016 | a0020c0016t0001 | a0020c0016t0001g0251 | 1 | 73 | 0.0137 | 22 | c.139 others(41): Show |
DNHD1 | ENSG00000179532.13 | transcript | ENST00000254579.11 | protein_coding | 7/42 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DNM1_chr9_128198379_128260244 | 128220742 | C | CGCGCGCG others(15): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03453.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0018 a0001c0004t0001g0063 |
2 | 81 | 0.0247 | 22 | c.849 others(37): Show |
DNM1 | ENSG00000106976.22 | transcript | ENST00000372923.8 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 172071086 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02055.hp2 HG02109.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0032a0001c0002t0001others(3): Show | a0001c0001t0003g0087 a0001c0001t0032g0057 a0001c0002t0001g0052 others(6): Show |
9 | 23 | 0.3913 | 22 | c.142 others(41): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 172106847 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02055.hp2 NA18747.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0088 a0001c0002t0001g0062 a0001c0002t0001g0127 |
3 | 14 | 0.2143 | 22 | c.154 others(43): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 172227271 | G | GATATATA others(15): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02615.hp1 HG02976.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0012a0001c0002t0016 | a0001c0002t0004g0015 a0001c0002t0004g0017 a0001c0002t0012g0101 others(1): Show |
4 | 21 | 0.1905 | 22 | c.166 others(43): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 172304206 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01081.hp1 HG02080.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(4): Show | a0001c0001t0002g0070 a0001c0001t0003g0044 a0001c0001t0008g0095 others(4): Show |
7 | 79 | 0.0886 | 22 | c.177 others(41): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 172354112 | T | TGTGAGAG others(15): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 11 | 0.0909 | 22 | c.189 others(43): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 172377553 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG03942.hp1 NA18998.hp1 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0072 a0001c0001t0001g0089 a0001c0001t0004g0021 |
3 | 24 | 0.1250 | 22 | c.189 others(41): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNMBP_chr10_99870577_100014947 | 99879084 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0009 | a0001c0009t0005 | a0001c0009t0005g0273 | 1 | 164 | 0.0061 | 22 | c.454 others(39): Show |
DNMBP | ENSG00000107554.17 | transcript | ENST00000324109.9 | protein_coding | 16/16 | chr10 | TogoVar | |||||||
DNMBP_chr10_99870577_100014947 | 99970971 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA18950.hp2 NA19074.hp1 |
a0001a0002 | a0001c0003a0002c0010 | a0001c0003t0002a0002c0010t0001 | a0001c0003t0002g0198 a0002c0010t0001g0191 |
2 | 78 | 0.0256 | 22 | c.145 others(38): Show |
DNMBP | ENSG00000107554.17 | transcript | ENST00000324109.9 | protein_coding | 2/16 | chr10 | TogoVar | |||||||
DNMT1_chr19_10128346_10199953 | 10182427 | G | GTGTGTAT others(15): Show |
intron_variant | MODIFIER | HG03831.hp2 HG04184.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0022 a0002c0003t0001g0033 |
2 | 382 | 0.0052 | 22 | c.81- others(35): Show |
DNMT1 | ENSG00000130816.17 | transcript | ENST00000359526.9 | protein_coding | 1/40 | chr19 | TogoVar | |||||||
DNMT3A_chr2_25222874_25346925 | 25278042 | C | CACACACA others(15): Show |
intron_variant | MODIFIER | HG01978.hp1 NA18960.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0150a0001c0003t0014 | a0001c0002t0150g0156 a0001c0003t0014g0092 |
2 | 95 | 0.0211 | 22 | c.449 others(39): Show |
DNMT3A | ENSG00000119772.19 | transcript | ENST00000321117.10 | protein_coding | 4/22 | chr2 | TogoVar | |||||||
DNMT3A_chr2_25222874_25346925 | 25284645 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0002 | a0001c0002t0038 | a0001c0002t0038g0267 | 1 | 84 | 0.0119 | 22 | c.178 others(39): Show |
DNMT3A | ENSG00000119772.19 | transcript | ENST00000321117.10 | protein_coding | 3/22 | chr2 | TogoVar | |||||||
DNPEP_chr2_219367043_219392912 | 219369608 | A | AACACACA others(15): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0064 | 1 | 34 | 0.0294 | 22 | c.*46 others(33): Show |
DNPEP | ENSG00000123992.20 | transcript | ENST00000273075.9 | protein_coding | 2434 | chr2 | TogoVar | |||||||
DNPEP_chr2_219367043_219392912 | 219369629 | A | ACACACAC others(15): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0028 | 1 | 363 | 0.0028 | 22 | c.*46 others(33): Show |
DNPEP | ENSG00000123992.20 | transcript | ENST00000273075.9 | protein_coding | 2413 | chr2 | TogoVar | |||||||
DNPEP_chr2_219367043_219392912 | 219370143 | C | CAAAAAAA others(15): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0082 | 1 | 2 | 0.5000 | 22 | c.*41 others(33): Show |
DNPEP | ENSG00000123992.20 | transcript | ENST00000273075.9 | protein_coding | 1899 | chr2 | TogoVar |