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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAH17_chr17_78418697_78582396 | 78541139 | G | GGGTGGGG others(43): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0098 | a0098c0016 | a0098c0016t0001 | a0098c0016t0001g0010 | 1 | 160 | 0.0063 | 50 | c.253 others(69): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21067772 | G | GGGGGGGG others(43): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00673.hp1 HG00673.hp2 others(2): Show |
a0001a0004a0051 | a0001c0001a0004c0097a0051c0080 | a0001c0001t0001a0001c0001t0002a0004c0097t0001others(1): Show | a0001c0001t0001g0202 a0001c0001t0002g0009 a0001c0001t0002g0010 others(2): Show |
5 | 174 | 0.0287 | 50 | c.324 others(67): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 23/61 | chr16 | TogoVar | |||||||
DNAH6_chr2_84511498_84824589 | 84601014 | T | TTATAATA others(43): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02886.hp2 NA18522.hp2 |
a0008 | a0008c0018a0008c0046 | a0008c0018t0002a0008c0046t0001 | a0008c0018t0002g0093 a0008c0018t0002g0104 a0008c0046t0001g0094 |
3 | 96 | 0.0313 | 50 | c.286 others(69): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 18/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195990970 | C | CATATATA others(43): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01346.hp2 HG01884.hp2 others(11): Show |
a0003 | a0003c0004a0003c0025a0003c0068others(1): Show | a0003c0004t0001a0003c0004t0003a0003c0025t0003others(2): Show | a0003c0004t0001g0105 a0003c0004t0001g0106 a0003c0004t0003g0095 others(11): Show |
14 | 252 | 0.0556 | 50 | c.135 others(69): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 12/64 | chr2 | TogoVar | |||||||
DNAI7_chr12_25103289_25200160 | 25120317 | G | GGAGAGAG others(43): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 47 | 0.0213 | 50 | c.124 others(69): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 11/15 | chr12 | TogoVar | |||||||
DNAJA1_chr9_33020273_33044907 | 33039536 | C | CATATATA others(43): Show |
3_prime_UTR_variant | MODIFIER | HG00408.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0015 a0001c0001t0028g0104 |
2 | 324 | 0.0062 | 50 | c.*64 others(59): Show |
DNAJA1 | ENSG00000086061.16 | transcript | ENST00000330899.5 | protein_coding | 9/9 | 645 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DNAJB6_chr7_157332004_157422439 | 157357269 | T | TTCTTCCT others(43): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 352 | 0.0028 | 50 | c.-26 others(67): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 1/9 | chr7 | TogoVar | |||||||
DNAJC13_chr3_132412502_132544032 | 132471011 | C | CGGGGGGC others(43): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00609.hp2 HG00738.hp2 others(32): Show |
a0001a0005a0006 | a0001c0003a0005c0008a0006c0007 | a0001c0003t0001a0001c0003t0003a0005c0008t0003others(1): Show | a0001c0003t0001g0241 a0001c0003t0003g0011 a0001c0003t0003g0018 others(31): Show |
35 | 315 | 0.1111 | 50 | c.220 others(69): Show |
DNAJC13 | ENSG00000138246.17 | transcript | ENST00000260818.11 | protein_coding | 20/55 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DNAJC18_chr5_139405203_139444525 | 139442153 | A | AAATCCAA others(43): Show |
upstream_gene_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0196 | 1 | 312 | 0.0032 | 50 | c.-27 others(61): Show |
DNAJC18 | ENSG00000170464.10 | transcript | ENST00000302060.10 | protein_coding | 2629 | chr5 | TogoVar | |||||||
DNAJC25_chr9_111626334_111659345 | 111641321 | G | GCCTGGCC others(43): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0259 | 1 | 410 | 0.0024 | 50 | c.337 others(67): Show |
DNAJC25 | ENSG00000059769.20 | transcript | ENST00000313525.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DNAL4_chr22_38773508_38799143 | 38783311 | A | ACGGGCCT others(43): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 368 | 0.0027 | 50 | c.-13 others(67): Show |
DNAL4 | ENSG00000100246.13 | transcript | ENST00000216068.9 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
DOCK11_chrX_118490815_118691147 | 118516004 | A | AATATATA others(43): Show |
intron_variant | MODIFIER | HG01168.hp2 HG03453.hp1 NA19007.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0208 a0001c0002t0001g0145 a0001c0002t0001g0146 others(2): Show |
5 | 20 | 0.2500 | 50 | c.102 others(69): Show |
DOCK11 | ENSG00000147251.16 | transcript | ENST00000276202.9 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DOCK11_chrX_118490815_118691147 | 118516004 | A | ACTATATA others(43): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02717.hp1 NA18906.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0096 a0001c0001t0001g0160 a0001c0002t0001g0193 |
3 | 18 | 0.1667 | 50 | c.102 others(69): Show |
DOCK11 | ENSG00000147251.16 | transcript | ENST00000276202.9 | protein_coding | 1/52 | chrX | TogoVar | |||||||
DOCK11_chrX_118490815_118691147 | 118516018 | T | TATATATA others(43): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0112 a0001c0003t0002g0113 |
2 | 201 | 0.0100 | 50 | c.102 others(69): Show |
DOCK11 | ENSG00000147251.16 | transcript | ENST00000276202.9 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 127017500 | G | GACACACA others(43): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0023 | a0002c0023t0001 | a0002c0023t0001g0082 | 1 | 79 | 0.0127 | 50 | c.120 others(69): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 12/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 127093214 | C | CTTTCTTT others(43): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0004 | a0004c0013 | a0004c0013t0003 | a0004c0013t0003g0036 | 1 | 131 | 0.0076 | 50 | c.244 others(71): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 23/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 127347895 | T | TCCCCTCC others(43): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0003 | a0003c0043 | a0003c0043t0003 | a0003c0043t0003g0042 | 1 | 76 | 0.0132 | 50 | c.322 others(69): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 31/51 | chr10 | TogoVar | |||||||
DOCK3_chr3_50669927_51389198 | 50839723 | C | CCTCCCCT others(43): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 186 | 0.0054 | 50 | c.122 others(67): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DOCK3_chr3_50669927_51389198 | 50886208 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 185 | 0.0054 | 50 | c.163 others(67): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 3/52 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DOCK3_chr3_50669927_51389198 | 51016038 | C | CATATATA others(43): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 119 | 0.0084 | 50 | c.316 others(69): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 5/52 | chr3 | TogoVar | |||||||
DOCK4_chr7_111721110_112211399 | 112128258 | T | TCTGCCCG others(43): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 | 1 | 106 | 0.0094 | 50 | c.37+ others(67): Show |
DOCK4 | ENSG00000128512.24 | transcript | ENST00000428084.6 | protein_coding | 1/52 | chr7 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 400472 | C | CCTCCACC others(43): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0076 | a0002c0076t0003 | a0002c0076t0003g0085 | 1 | 68 | 0.0147 | 50 | c.323 others(69): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOK6_chr18_69395888_69854087 | 69617725 | A | AAGAAAGA others(43): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG00735.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0029a0001c0001t0038others(10): Show | a0001c0001t0001g0060 a0001c0001t0001g0162 a0001c0001t0029g0127 others(11): Show |
14 | 103 | 0.1359 | 50 | c.289 others(69): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DOK6_chr18_69395888_69854087 | 69774133 | G | GATATATA others(43): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0159 | 1 | 48 | 0.0208 | 50 | c.856 others(69): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DOK7_chr4_3458306_3499482 | 3490110 | C | CCTCATTC others(43): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01952.hp2 HG01981.hp2 others(2): Show |
a0004 | a0004c0004 | a0004c0004t0006a0004c0004t0039 | a0004c0004t0006g0169 a0004c0004t0006g0242 a0004c0004t0006g0243 others(2): Show |
5 | 238 | 0.0210 | 50 | c.772 others(65): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DONSON_chr21_33572551_33593684 | 33583200 | C | CAAAAAAA others(43): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 40 | 0.0250 | 50 | c.964 others(65): Show |
DONSON | ENSG00000159147.18 | transcript | ENST00000303071.10 | protein_coding | 5/9 | chr21 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89619597 | T | TCCCCTCC others(43): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 235 | 0.0043 | 50 | c.-10 others(69): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89619597 | T | TCCCCTCC others(43): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 235 | 0.0043 | 50 | c.-10 others(69): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89628132 | C | CAGGATGG others(43): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 248 | 0.0040 | 50 | c.-10 others(69): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89634642 | T | TCCCCTTC others(43): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 237 | 0.0042 | 50 | c.105 others(67): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89635008 | T | TCCCCTTC others(43): Show |
intron_variant | MODIFIER | HG02818.hp2 NA19240.hp2 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0127 a0003c0003t0002g0128 |
2 | 214 | 0.0093 | 50 | c.105 others(65): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89635223 | T | TTCCTTCT others(43): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0170 | 1 | 243 | 0.0041 | 50 | c.105 others(65): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPEP2NB_chr16_68008436_68020911 | 68020855 | A | ATATATAT others(43): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 353 | 0.0028 | 50 | c.-50 others(61): Show |
DPEP2NB | ENSG00000263201.1 | transcript | ENST00000574912.1 | protein_coding | 4945 | chr16 | TogoVar | |||||||
DPF3_chr14_72604034_72899101 | 72884953 | T | TATATATA others(43): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0193 | 1 | 189 | 0.0053 | 50 | c.32+ others(65): Show |
DPF3 | ENSG00000205683.12 | transcript | ENST00000556509.6 | protein_coding | 1/10 | chr14 | TogoVar | |||||||
DPH6_chr15_35365880_35551165 | 35542945 | A | AATATATA others(43): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 106 | 0.0094 | 50 | c.24- others(63): Show |
DPH6 | ENSG00000134146.12 | transcript | ENST00000256538.9 | protein_coding | 1/8 | chr15 | TogoVar | |||||||
DPP10_chr2_114437641_115850780 | 115426044 | A | ACTGGAGA others(43): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02922.hp2 HG03516.hp1 |
a0003a0006 | a0003c0003a0006c0006 | a0003c0003t0003a0006c0006t0006 | a0003c0003t0003g0002 a0006c0006t0006g0003 a0006c0006t0006g0016 |
3 | 50 | 0.0600 | 50 | c.272 others(69): Show |
DPP10 | ENSG00000175497.17 | transcript | ENST00000410059.6 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DPP6_chr7_154047398_154899285 | 154654419 | T | TTCCTTCC others(43): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01952.hp1 |
a0001a0002 | a0001c0016a0002c0013 | a0001c0016t0013a0002c0013t0018 | a0001c0016t0013g0012 a0002c0013t0018g0026 |
2 | 17 | 0.1176 | 50 | c.681 others(69): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 6/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DPP6_chr7_154047398_154899285 | 154749414 | G | GGTGAGGG others(43): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01978.hp1 HG02083.hp1 others(10): Show |
a0001a0002 | a0001c0003a0001c0006a0001c0007others(10): Show | a0001c0003t0007a0001c0006t0003a0001c0007t0019others(10): Show | a0001c0003t0007g0024 a0001c0006t0003g0014 a0001c0007t0019g0037 others(10): Show |
13 | 35 | 0.3714 | 50 | c.884 others(69): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 8/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DPP6_chr7_154047398_154899285 | 154749539 | A | AGGGAGAG others(43): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0022 | a0002c0022t0023 | a0002c0022t0023g0027 | 1 | 38 | 0.0263 | 50 | c.884 others(69): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 8/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DPP9_chr19_4670227_4728842 | 4672094 | C | CATATATT others(43): Show |
downstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0137 | 1 | 295 | 0.0034 | 50 | c.*44 others(61): Show |
DPP9 | ENSG00000142002.19 | transcript | ENST00000262960.14 | protein_coding | 3132 | chr19 | TogoVar | |||||||
DPT_chr1_168690468_168734206 | 168725215 | A | ATTCCTTT others(43): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00438.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0055 a0001c0001t0001g0170 a0001c0001t0001g0214 others(17): Show |
23 | 146 | 0.1575 | 50 | c.305 others(67): Show |
DPT | ENSG00000143196.5 | transcript | ENST00000367817.4 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
DPT_chr1_168690468_168734206 | 168725218 | C | CCTTTCCT others(43): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01993.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0206 a0001c0001t0002g0262 |
2 | 436 | 0.0046 | 50 | c.305 others(67): Show |
DPT | ENSG00000143196.5 | transcript | ENST00000367817.4 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
DPYSL2_chr8_26509031_26663175 | 26556150 | A | ATATATTA others(43): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0016 | a0001c0016t0018 | a0001c0016t0018g0066 | 1 | 286 | 0.0035 | 50 | c.355 others(69): Show |
DPYSL2 | ENSG00000092964.18 | transcript | ENST00000521913.7 | protein_coding | 1/13 | chr8 | TogoVar | |||||||
DPYSL5_chr2_26843132_26955351 | 26928704 | T | TATATATA others(43): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0057 | 1 | 115 | 0.0087 | 50 | c.669 others(65): Show |
DPYSL5 | ENSG00000157851.17 | transcript | ENST00000288699.11 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DROSHA_chr5_31395494_31537093 | 31421897 | A | AAAAAATA others(43): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0270 | 1 | 259 | 0.0039 | 50 | c.342 others(67): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 29/35 | chr5 | TogoVar | |||||||
DST_chr6_56452996_56959830 | 56812109 | A | AAAAAGAA others(43): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0049 | a0049c0022 | a0049c0022t0001 | a0049c0022t0001g0027 | 1 | 15 | 0.0667 | 50 | c.625 others(69): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 4/103 | chr6 | TogoVar | |||||||
DTD1_chr20_18583054_18771644 | 18708277 | A | ATATATAA others(43): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0192 | 1 | 376 | 0.0027 | 50 | c.478 others(69): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | chr20 | TogoVar | |||||||
DUS2_chr16_68018284_68084320 | 68020855 | A | ATATATAT others(43): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 225 | 0.0044 | 50 | c.-25 others(61): Show |
DUS2 | ENSG00000167264.18 | transcript | ENST00000565263.6 | protein_coding | 2428 | chr16 | TogoVar | |||||||
DUSP14_chr17_37484891_37518498 | 37509105 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 369 | 0.0027 | 50 | c.-18 others(69): Show |
DUSP14 | ENSG00000276023.5 | transcript | ENST00000617516.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DUXA_chr19_57149021_57172485 | 57171993 | C | CGCGAGCG others(43): Show |
upstream_gene_variant | MODIFIER | HG01257.hp1 HG03490.hp1 HG03492.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0087 others(2): Show |
6 | 428 | 0.0140 | 50 | c.-45 others(61): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 4509 | chr19 | TogoVar |