| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DLGAP2_chr8_732628_1713476 | 1406862 | ACCTCCTC others(39): Show |
A | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0011 | 1 | 40 | 0.0250 | -46 | c.107 others(65): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1407245 | GGAGTCGT others(39): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG01071.hp2 HG01361.hp1 others(8): Show |
a0001a0002 | a0001c0002a0002c0001a0002c0004 | a0001c0002t0001a0001c0002t0002a0001c0002t0010others(7): Show | a0001c0002t0001g0015a0001c0002t0001g0019a0001c0002t0002g0021others(8): Show | 11 | 40 | 0.2750 | -46 | c.107 others(65): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1407517 | GTCCAGAG others(39): Show |
G | intron_variant | MODIFIER | HG02647.hp2 NA18906.hp1 |
a0002a0004 | a0002c0001a0004c0008 | a0002c0001t0002a0004c0008t0016 | a0002c0001t0002g0013a0004c0008t0016g0029 | 2 | 40 | 0.0500 | -46 | c.107 others(65): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1407695 | CTCATCCT others(39): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01496.hp2 HG02074.hp1 others(3): Show |
a0001a0002a0003 | a0001c0003a0001c0010a0002c0001others(1): Show | a0001c0003t0001a0001c0010t0025a0002c0001t0020others(2): Show | a0001c0003t0001g0026a0001c0003t0001g0027a0001c0010t0025g0012others(3): Show | 6 | 40 | 0.1500 | -46 | c.107 others(65): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1417647 | AGCCCCAC others(39): Show |
A | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0007 | 1 | 40 | 0.0250 | -46 | c.107 others(65): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DMD_chrX_31114222_33216549 | 32042148 | TACATACA others(39): Show |
T | intron_variant | MODIFIER | HG02257.hp2 | a0003 | a0003c0008 | a0003c0008t0023 | a0003c0008t0023g0005 | 1 | 126 | 0.0079 | -46 | c.643 others(67): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | ||||||
| DNAAF5_chr7_721699_791475 | 782584 | CGGCGTGG others(39): Show |
C | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 378 | 0.0027 | -46 | c.243 others(65): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| DNAAF5_chr7_721699_791475 | 782625 | ATTCCTGG others(39): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG01884.hp1 HG02132.hp1 others(28): Show |
a0001a0006 | a0001c0001a0001c0019a0006c0028 | a0001c0001t0004a0001c0001t0014a0001c0019t0004others(1): Show | a0001c0001t0004g0021a0001c0001t0004g0022a0001c0001t0004g0106others(26): Show | 31 | 378 | 0.0820 | -46 | c.243 others(65): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| DNAJB12_chr10_72327863_72359919 | 72356829 | GATATATA others(39): Show |
G | upstream_gene_variant | MODIFIER | HG02896.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0057a0001c0001t0008g0058 | 2 | 292 | 0.0069 | -46 | c.-19 others(57): Show |
DNAJB12 | ENSG00000148719.16 | transcript | ENST00000444643.8 | protein_coding | 1911 | chr10 | TogoVar | ||||||
| DNAJC1_chr10_21751548_22008730 | 21837797 | CGGCCAGC others(39): Show |
C | intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0161 | 1 | 164 | 0.0061 | -46 | c.979 others(65): Show |
DNAJC1 | ENSG00000136770.11 | transcript | ENST00000376980.8 | protein_coding | 8/11 | chr10 | TogoVar | ||||||
| DNAJC3_chr13_95672139_95799988 | 95764661 | TATATATA others(39): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0371a0001c0001t0022g0372 | 2 | 374 | 0.0054 | -46 | c.107 others(63): Show |
DNAJC3 | ENSG00000102580.15 | transcript | ENST00000602402.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| DNMT3A_chr2_25222874_25346925 | 25300712 | AATATATA others(39): Show |
A | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0250 | 1 | 294 | 0.0034 | -46 | c.73- others(59): Show |
DNMT3A | ENSG00000119772.19 | transcript | ENST00000321117.10 | protein_coding | 2/22 | chr2 | TogoVar | ||||||
| DNTTIP1_chr20_45786954_45816418 | 45800690 | AAAAAATA others(39): Show |
A | intron_variant | MODIFIER | NA18947.hp2 NA18960.hp2 NA18973.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0018 | 3 | 412 | 0.0073 | -46 | c.373 others(61): Show |
DNTTIP1 | ENSG00000101457.13 | transcript | ENST00000372622.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| DOCK1_chr10_126900428_127457516 | 127397738 | CGACTCCT others(39): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG02145.hp1 HG02257.hp1 others(8): Show |
a0001a0002a0004others(1): Show | a0001c0006a0001c0052a0002c0010others(6): Show | a0001c0006t0001a0001c0052t0002a0002c0010t0002others(7): Show | a0001c0006t0001g0041a0001c0052t0002g0035a0002c0010t0002g0001others(8): Show | 11 | 136 | 0.0809 | -46 | c.392 others(65): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 38/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| DOCK4_chr7_111721110_112211399 | 112066670 | CATATACA others(39): Show |
C | intron_variant | MODIFIER | HG02698.hp1 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0089 | 1 | 106 | 0.0094 | -46 | c.38- others(63): Show |
DOCK4 | ENSG00000128512.24 | transcript | ENST00000428084.6 | protein_coding | 1/52 | chr7 | TogoVar | ||||||
| DOCK5_chr8_25179689_25420711 | 25246729 | TGTGTGTG others(39): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02622.hp2 others(4): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0056others(1): Show | a0001c0002t0015a0001c0002t0028a0001c0004t0016others(4): Show | a0001c0002t0015g0152a0001c0002t0028g0154a0001c0004t0016g0091others(4): Show | 7 | 210 | 0.0333 | -46 | c.127 others(63): Show |
DOCK5 | ENSG00000147459.18 | transcript | ENST00000276440.12 | protein_coding | 2/51 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DOK6_chr18_69395888_69854087 | 69597702 | TCGCCTGC others(39): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01261.hp1 HG01884.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0078others(2): Show | a0001c0001t0001g0060a0001c0001t0001g0067a0001c0001t0005g0133others(3): Show | 6 | 170 | 0.0353 | -46 | c.175 others(63): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| DOK6_chr18_69395888_69854087 | 69597733 | CATCTGGA others(39): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp1 HG02109.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0092a0001c0003t0030a0001c0003t0048others(2): Show | a0001c0001t0092g0049a0001c0003t0030g0053a0001c0003t0048g0029others(2): Show | 5 | 170 | 0.0294 | -46 | c.175 others(63): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| DOK6_chr18_69395888_69854087 | 69659916 | ATATAACA others(39): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00558.hp2 others(46): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(36): Show | a0001c0001t0001g0047a0001c0001t0001g0071a0001c0001t0001g0100others(46): Show | 49 | 170 | 0.2882 | -46 | c.290 others(65): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| DONSON_chr21_33572551_33593684 | 33577604 | TACACACA others(39): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01255.hp2 HG01952.hp2 HG02040.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0032a0001c0001t0057 | a0001c0001t0032g0050a0001c0001t0032g0120a0001c0001t0032g0241others(3): Show | 6 | 426 | 0.0141 | -46 | c.*65 others(55): Show |
DONSON | ENSG00000159147.18 | transcript | ENST00000303071.10 | protein_coding | 10/10 | 657 | chr21 | TogoVar | |||||
| DPEP2NB_chr16_68008436_68020911 | 68020835 | ATATATAT others(39): Show |
A | upstream_gene_variant | MODIFIER | NA18940.hp1 NA18991.hp1 NA19010.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 4 | 362 | 0.0111 | -46 | c.-51 others(57): Show |
DPEP2NB | ENSG00000263201.1 | transcript | ENST00000574912.1 | protein_coding | 4925 | chr16 | TogoVar | ||||||
| DPH1_chr17_2025153_2048898 | 2032937 | TTAGCCAG others(39): Show |
T | intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 392 | 0.0026 | -46 | c.62- others(59): Show |
DPH1 | ENSG00000108963.19 | transcript | ENST00000263083.12 | protein_coding | 1/12 | chr17 | TogoVar | ||||||
| DPYSL5_chr2_26843132_26955351 | 26932121 | AAGAGAAA others(39): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG01167.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013 | a0001c0001t0003g0068a0001c0001t0013g0074a0001c0001t0013g0075 | 3 | 232 | 0.0129 | -46 | c.714 others(61): Show |
DPYSL5 | ENSG00000157851.17 | transcript | ENST00000288699.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| DRD3_chr3_114122580_114184052 | 114156715 | GTCTTTCT others(39): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00642.hp2 HG00738.hp1 others(27): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0006others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(3): Show | a0001c0002t0001g0011a0001c0002t0001g0246a0001c0002t0001g0250others(25): Show | 30 | 360 | 0.0833 | -46 | c.383 others(63): Show |
DRD3 | ENSG00000151577.14 | transcript | ENST00000383673.5 | protein_coding | 3/6 | chr3 | TogoVar | ||||||
| DTD1_chr20_18583054_18771644 | 18708241 | TATAATAT others(39): Show |
T | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0004 | 1 | 398 | 0.0025 | -46 | c.478 others(65): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | chr20 | TogoVar | ||||||
| DUS2_chr16_68018284_68084320 | 68020835 | ATATATAT others(39): Show |
A | upstream_gene_variant | MODIFIER | NA18940.hp1 NA19010.hp1 NA19055.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003a0001c0002t0001g0046 | 3 | 234 | 0.0128 | -46 | c.-26 others(57): Show |
DUS2 | ENSG00000167264.18 | transcript | ENST00000565263.6 | protein_coding | 2448 | chr16 | TogoVar | ||||||
| EAPP_chr14_34510938_34544701 | 34538320 | AGTGAGCC others(39): Show |
A | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 360 | 0.0028 | -46 | c.74+ others(61): Show |
EAPP | ENSG00000129518.10 | transcript | ENST00000250454.8 | protein_coding | 1/5 | chr14 | TogoVar | ||||||
| EBLN2_chr3_73056659_73068337 | 73067276 | AAAACTGA others(39): Show |
A | downstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 428 | 0.0023 | -46 | c.*43 others(57): Show |
EBLN2 | ENSG00000255423.1 | transcript | ENST00000533473.1 | protein_coding | 3940 | chr3 | TogoVar | ||||||
| ECHS1_chr10_133357485_133378354 | 133366581 | TTGGATGC others(39): Show |
T | intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 354 | 0.0028 | -46 | c.619 others(61): Show |
ECHS1 | ENSG00000127884.5 | transcript | ENST00000368547.4 | protein_coding | 5/7 | chr10 | TogoVar | ||||||
| ECHS1_chr10_133357485_133378354 | 133366638 | CCTGGGTT others(39): Show |
C | intron_variant | MODIFIER | HG03453.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0125 | 1 | 354 | 0.0028 | -46 | c.619 others(61): Show |
ECHS1 | ENSG00000127884.5 | transcript | ENST00000368547.4 | protein_coding | 5/7 | chr10 | TogoVar | ||||||
| EIF2AK2_chr2_37094210_37161980 | 37161227 | AAAAAAAA others(39): Show |
A | upstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0020 | 1 | 326 | 0.0031 | -46 | c.-45 others(57): Show |
EIF2AK2 | ENSG00000055332.19 | transcript | ENST00000233057.9 | protein_coding | 4248 | chr2 | TogoVar | ||||||
| EIF4A1_chr17_7567825_7584006 | 7571866 | TATATATA others(39): Show |
T | upstream_gene_variant | MODIFIER | HG02647.hp2 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0004a0001c0001t0003g0015 | 2 | 436 | 0.0046 | -46 | c.-97 others(55): Show |
EIF4A1 | ENSG00000161960.16 | transcript | ENST00000293831.13 | protein_coding | 958 | chr17 | TogoVar | ||||||
| EIPR1_chr2_3183970_3382818 | 3287223 | GTTCACCA others(39): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(95): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0016others(95): Show | 98 | 250 | 0.3920 | -46 | c.260 others(65): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
| EIPR1_chr2_3183970_3382818 | 3299322 | CTGTCCTG others(39): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01074.hp2 HG01192.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0030a0001c0001t0001g0079a0001c0001t0001g0080others(12): Show | 15 | 250 | 0.0600 | -46 | c.259 others(65): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
| EIPR1_chr2_3183970_3382818 | 3304859 | CTGCCATC others(39): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(88): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0017others(88): Show | 91 | 250 | 0.3640 | -46 | c.259 others(65): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
| ELL2_chr5_95880098_95966851 | 95927474 | CATACACA others(39): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG01975.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0156a0001c0001t0003g0189 | 2 | 314 | 0.0064 | -46 | c.196 others(63): Show |
ELL2 | ENSG00000118985.16 | transcript | ENST00000237853.9 | protein_coding | 2/11 | chr5 | TogoVar | ||||||
| ELL2_chr5_95880098_95966851 | 95927478 | CACACACG others(39): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG01928.hp2 HG01978.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0023 | a0001c0001t0002g0220a0001c0001t0003g0007a0001c0001t0003g0008others(16): Show | 21 | 314 | 0.0669 | -46 | c.196 others(63): Show |
ELL2 | ENSG00000118985.16 | transcript | ENST00000237853.9 | protein_coding | 2/11 | chr5 | TogoVar | ||||||
| EMC10_chr19_50471507_50495871 | 50493179 | GGGCGAGA others(39): Show |
G | downstream_gene_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 352 | 0.0028 | -46 | c.*10 others(59): Show |
EMC10 | ENSG00000161671.17 | transcript | ENST00000334976.11 | protein_coding | 2309 | chr19 | TogoVar | ||||||
| EML5_chr14_88607431_88797953 | 88796434 | ATTATATA others(39): Show |
A | upstream_gene_variant | MODIFIER | HG02040.hp1 NA18980.hp2 |
a0004 | a0004c0007 | a0004c0007t0016 | a0004c0007t0016g0007a0004c0007t0016g0008 | 2 | 332 | 0.0060 | -46 | c.-39 others(57): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3482 | chr14 | TogoVar | ||||||
| ENOSF1_chr18_665318_717630 | 667429 | GAGATGGT others(39): Show |
G | downstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0059 | 1 | 418 | 0.0024 | -46 | c.*68 others(57): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2888 | chr18 | TogoVar | ||||||
| ENOSF1_chr18_665318_717630 | 667435 | GTGATGGT others(39): Show |
G | downstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0041 | 1 | 418 | 0.0024 | -46 | c.*68 others(57): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2882 | chr18 | TogoVar | ||||||
| ENPP6_chr4_184083706_184222873 | 184220434 | GGAAAGGG others(39): Show |
G | upstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0070 | 1 | 320 | 0.0031 | -46 | c.-26 others(57): Show |
ENPP6 | ENSG00000164303.11 | transcript | ENST00000296741.7 | protein_coding | 2562 | chr4 | TogoVar | ||||||
| ENTR1_chr9_136396922_136415614 | 136403370 | GGGGGAGA others(39): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG01123.hp2 HG01361.hp1 others(11): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0002t0015a0002c0003t0002others(4): Show | a0001c0001t0001g0043a0001c0002t0015g0068a0002c0003t0002g0012others(5): Show | 14 | 412 | 0.0340 | -46 | c.120 others(63): Show |
ENTR1 | ENSG00000165689.17 | transcript | ENST00000357365.8 | protein_coding | 9/9 | chr9 | TogoVar | ||||||
| EPCAM_chr2_47364311_47392020 | 47365490 | ATATATAT others(39): Show |
A | upstream_gene_variant | MODIFIER | HG01978.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012 | 1 | 450 | 0.0022 | -46 | c.-40 others(57): Show |
EPCAM | ENSG00000119888.11 | transcript | ENST00000263735.9 | protein_coding | 3820 | chr2 | TogoVar | ||||||
| EPHA2_chr1_16119337_16161069 | 16136666 | GAAGAAAA others(39): Show |
G | intron_variant | MODIFIER | HG02922.hp1 HG03654.hp2 |
a0001 | a0001c0004a0001c0010 | a0001c0004t0002a0001c0010t0001 | a0001c0004t0002g0087a0001c0010t0001g0203 | 2 | 312 | 0.0064 | -46 | c.131 others(63): Show |
EPHA2 | ENSG00000142627.13 | transcript | ENST00000358432.8 | protein_coding | 5/16 | chr1 | TogoVar | ||||||
| EPHA6_chr3_96809594_97766532 | 97363171 | AATATATA others(39): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG01175.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(14): Show | a0001c0001t0001g0024a0001c0001t0004g0016a0001c0001t0004g0071others(21): Show | 24 | 82 | 0.2927 | -46 | c.160 others(67): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ERBB4_chr2_211370717_212543802 | 212446578 | CATATATA others(39): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0035 | 1 | 56 | 0.0179 | -46 | c.82+ others(63): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
| ERFL_chr19_41902704_41933449 | 41914806 | TCCCCCTC others(39): Show |
T | intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0156 | 1 | 330 | 0.0030 | -46 | c.-13 others(63): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
| ERICH1_chr8_659200_736224 | 659619 | GTGACCAT others(39): Show |
G | downstream_gene_variant | MODIFIER | HG00609.hp1 HG01975.hp1 HG01981.hp1 others(16): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0004a0001c0001t0001g0016a0001c0001t0001g0032others(16): Show | 19 | 378 | 0.0503 | -46 | c.*49 others(57): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4580 | chr8 | TogoVar | ||||||
| ERICH1_chr8_659200_736224 | 659834 | CATCCTGG others(39): Show |
C | downstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 378 | 0.0027 | -46 | c.*47 others(57): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4365 | chr8 | TogoVar |