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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EXOC2_chr6_480154_698139 | 685869 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01123.hp1 HG02015.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0007a0001c0003t0001others(4): Show | a0001c0001t0001g0203 a0001c0001t0007g0212 a0001c0003t0001g0206 others(7): Show |
10 | 272 | 0.0368 | 15 | c.-44 others(32): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 1/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 692827 | G | GGCGGGGA others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(146): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0015 others(146): Show |
149 | 272 | 0.5478 | 15 | c.-44 others(30): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 1/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 692827 | G | GGCGGGGG others(8): Show |
intron_variant | MODIFIER | HG02738.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0004 a0001c0001t0003g0005 |
2 | 272 | 0.0074 | 15 | c.-44 others(30): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 1/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 692834 | A | ATGGGGGC others(8): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0003 | 1 | 272 | 0.0037 | 15 | c.-44 others(30): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 1/27 | chr6 | TogoVar | |||||||
EXOC3L2_chr19_45207370_45250407 | 45210046 | A | AAAAACAA others(8): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG01192.hp2 others(19): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0007a0001c0009others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0007t0001others(13): Show | a0001c0001t0001g0173 a0001c0001t0004g0333 a0001c0007t0001g0136 others(19): Show |
22 | 356 | 0.0618 | 15 | c.*30 others(26): Show |
EXOC3L2 | ENSG00000283632.4 | transcript | ENST00000413988.3 | protein_coding | 2323 | chr19 | TogoVar | |||||||
EXOC3L2_chr19_45207370_45250407 | 45219393 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00738.hp1 HG02109.hp1 others(5): Show |
a0001a0002a0007 | a0001c0001a0002c0012a0007c0028 | a0001c0001t0002a0002c0012t0001a0007c0028t0001 | a0001c0001t0002g0116 a0001c0001t0002g0151 a0001c0001t0002g0159 others(5): Show |
8 | 356 | 0.0225 | 15 | c.172 others(34): Show |
EXOC3L2 | ENSG00000283632.4 | transcript | ENST00000413988.3 | protein_coding | 8/11 | chr19 | TogoVar | |||||||
EXOC3L2_chr19_45207370_45250407 | 45226747 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02258.hp1 HG02280.hp2 others(7): Show |
a0001a0004 | a0001c0001a0001c0009a0004c0006 | a0001c0001t0002a0001c0009t0001a0004c0006t0001others(1): Show | a0001c0001t0002g0021 a0001c0001t0002g0095 a0001c0001t0002g0273 others(7): Show |
10 | 356 | 0.0281 | 15 | c.158 others(32): Show |
EXOC3L2 | ENSG00000283632.4 | transcript | ENST00000413988.3 | protein_coding | 7/11 | chr19 | TogoVar | |||||||
EXOC3L2_chr19_45207370_45250407 | 45245739 | C | CGGGGGGG others(8): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 HG01433.hp1 HG03239.hp1 |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0003a0003c0004t0006 | a0003c0004t0001g0321 a0003c0004t0003g0318 a0003c0004t0006g0320 |
3 | 356 | 0.0084 | 15 | c.-41 others(24): Show |
EXOC3L2 | ENSG00000283632.4 | transcript | ENST00000413988.3 | protein_coding | 333 | chr19 | TogoVar | |||||||
EXOC3_chr5_438176_472290 | 441497 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG01516.hp2 HG01517.hp2 HG04204.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0045 a0001c0001t0001g0135 |
4 | 418 | 0.0096 | 15 | c.-18 others(26): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 1678 | chr5 | TogoVar | |||||||
EXOC3_chr5_438176_472290 | 443223 | C | CGGAGGGG others(8): Show |
5_prime_UTR_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0026 | a0001c0002t0026g0034 | 1 | 418 | 0.0024 | 15 | c.-12 others(24): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 1/13 | 2980 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
EXOC3_chr5_438176_472290 | 443229 | G | GGGCGGCG others(8): Show |
5_prime_UTR_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0002 | a0001c0002t0034 | a0001c0002t0034g0038 | 1 | 418 | 0.0024 | 15 | c.-83 others(22): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 1/13 | 2927 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
EXOC4_chr7_133248078_134070761 | 133516758 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG06807.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0091 a0001c0004t0001g0087 |
2 | 102 | 0.0196 | 15 | c.141 others(36): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133558189 | C | CTCTTTTC others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG03704.hp2 others(2): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0001a0001c0003t0002a0001c0004t0002 | a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0003t0002g0012 others(2): Show |
5 | 102 | 0.0490 | 15 | c.141 others(36): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133810596 | C | CTTTATTT others(8): Show |
intron_variant | MODIFIER | HG02622.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0055 a0001c0002t0002g0071 |
2 | 102 | 0.0196 | 15 | c.151 others(34): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133823853 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0048 | 1 | 102 | 0.0098 | 15 | c.173 others(34): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133976226 | G | GAATATAA others(8): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0102 | 1 | 102 | 0.0098 | 15 | c.220 others(36): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 134006362 | C | CTTGGCCT others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG01099.hp1 others(13): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0001a0001c0002t0003a0001c0002t0016others(3): Show | a0001c0002t0001g0002 a0001c0002t0001g0010 a0001c0002t0001g0014 others(13): Show |
16 | 102 | 0.1569 | 15 | c.252 others(34): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 134019415 | G | GTGATGAT others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG01071.hp1 others(13): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0001a0001c0002t0003a0001c0002t0016others(3): Show | a0001c0002t0001g0002 a0001c0002t0001g0010 a0001c0002t0001g0014 others(13): Show |
16 | 102 | 0.1569 | 15 | c.268 others(36): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC6B_chr2_72170984_72831033 | 72265239 | T | TTTATTAT others(8): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01261.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0002a0001c0009 | a0001c0002t0003a0001c0002t0005a0001c0009t0005 | a0001c0002t0003g0071 a0001c0002t0005g0025 a0001c0002t0005g0080 others(1): Show |
4 | 104 | 0.0385 | 15 | c.219 others(36): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 20/21 | chr2 | TogoVar | |||||||
EXOC6B_chr2_72170984_72831033 | 72508184 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0078 | 1 | 104 | 0.0096 | 15 | c.116 others(34): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 11/21 | chr2 | TogoVar | |||||||
EXOC6B_chr2_72170984_72831033 | 72767808 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01516.hp2 HG01884.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0051 a0001c0001t0002g0048 a0001c0001t0002g0062 others(7): Show |
10 | 104 | 0.0962 | 15 | c.114 others(34): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 1/21 | chr2 | TogoVar | |||||||
EXOC6B_chr2_72170984_72831033 | 72773120 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0078 | 1 | 104 | 0.0096 | 15 | c.114 others(34): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 1/21 | chr2 | TogoVar | |||||||
EXOC6_chr10_92843520_93064490 | 92858022 | T | TCCCCCCC others(8): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0160 | 1 | 288 | 0.0035 | 15 | c.101 others(32): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EXOC6_chr10_92843520_93064490 | 92930504 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0287 | 1 | 288 | 0.0035 | 15 | c.972 others(32): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EXOC6_chr10_92843520_93064490 | 92948573 | C | CACTACTA others(8): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02723.hp1 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0104 |
3 | 288 | 0.0104 | 15 | c.141 others(32): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EXOC6_chr10_92843520_93064490 | 93050759 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00733.hp2 HG00735.hp2 others(20): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0003 | a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0082 others(20): Show |
23 | 288 | 0.0799 | 15 | c.217 others(34): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EXOC7_chr17_76076016_76108787 | 76077966 | C | CGGGGGGG others(8): Show |
downstream_gene_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0055 | 1 | 366 | 0.0027 | 15 | c.*56 others(26): Show |
EXOC7 | ENSG00000182473.22 | transcript | ENST00000589210.6 | protein_coding | 3049 | chr17 | TogoVar | |||||||
EXOSC10_chr1_11061618_11104869 | 11083562 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00673.hp1 HG01123.hp1 others(14): Show |
a0001a0002 | a0001c0003a0001c0024a0002c0004others(1): Show | a0001c0003t0001a0001c0003t0002a0001c0024t0002others(2): Show | a0001c0003t0001g0248 a0001c0003t0001g0261 a0001c0003t0002g0010 others(13): Show |
17 | 284 | 0.0599 | 15 | c.109 others(32): Show |
EXOSC10 | ENSG00000171824.14 | transcript | ENST00000376936.9 | protein_coding | 9/24 | chr1 | TogoVar | |||||||
EXOSC1_chr10_97430909_97451006 | 97449861 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG01192.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0050 a0001c0002t0001g0054 |
2 | 430 | 0.0047 | 15 | c.-38 others(26): Show |
EXOSC1 | ENSG00000171311.13 | transcript | ENST00000370902.8 | protein_coding | 3856 | chr10 | TogoVar | |||||||
EXOSC3_chr9_37774714_37790064 | 37790045 | A | ACAGTGGT others(8): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 HG02895.hp2 HG02897.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 5 | 432 | 0.0116 | 15 | c.-50 others(26): Show |
EXOSC3 | ENSG00000107371.14 | transcript | ENST00000327304.10 | protein_coding | 4982 | chr9 | TogoVar | |||||||
EXOSC6_chr16_70241778_70256940 | 70249014 | T | TAAAAAAA others(8): Show |
3_prime_UTR_variant | MODIFIER | HG02559.hp2 HG02647.hp1 HG02922.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0021a0002c0002t0108 | a0002c0002t0021g0000 a0002c0002t0108g0000 |
5 | 420 | 0.0119 | 15 | c.*20 others(26): Show |
EXOSC6 | ENSG00000223496.3 | transcript | ENST00000435634.3 | protein_coding | 1/1 | 2067 | chr16 | TogoVar | ||||||
EXOSC6_chr16_70241778_70256940 | 70253258 | T | TTGTTGTA others(8): Show |
upstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0000 | 1 | 420 | 0.0024 | 15 | c.-13 others(26): Show |
EXOSC6 | ENSG00000223496.3 | transcript | ENST00000435634.3 | protein_coding | 1319 | chr16 | TogoVar | |||||||
EXPH5_chr11_108500435_108598768 | 108532366 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0189 | 1 | 314 | 0.0032 | 15 | c.444 others(32): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 3/5 | chr11 | TogoVar | |||||||
EXPH5_chr11_108500435_108598768 | 108532367 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01175.hp1 HG01257.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0003a0003c0044 | a0001c0001t0002a0003c0003t0002a0003c0003t0011others(1): Show | a0001c0001t0002g0001 a0001c0001t0002g0097 a0001c0001t0002g0125 others(5): Show |
9 | 314 | 0.0287 | 15 | c.444 others(32): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 3/5 | chr11 | TogoVar | |||||||
EXPH5_chr11_108500435_108598768 | 108573197 | A | AAAGAAAG others(8): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0005 | a0005c0005 | a0005c0005t0003 | a0005c0005t0003g0284 | 1 | 314 | 0.0032 | 15 | c.119 others(34): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117814234 | G | GTGTGTGT others(8): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0048 | a0001c0002t0048g0032 | 1 | 190 | 0.0053 | 15 | c.163 others(34): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 7/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117827784 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02723.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0071 | a0001c0001t0018g0079 a0001c0001t0071g0181 |
2 | 190 | 0.0105 | 15 | c.128 others(34): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 4/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117844137 | C | CTATTATT others(8): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01496.hp2 HG01943.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(10): Show | a0001c0001t0001g0030 a0001c0001t0001g0049 a0001c0001t0001g0080 others(14): Show |
17 | 190 | 0.0895 | 15 | c.963 others(32): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117858791 | A | AGGCAGGC others(8): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01884.hp1 HG02559.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003a0001c0007 | a0001c0002t0017a0001c0003t0002a0001c0003t0046others(1): Show | a0001c0002t0017g0188 a0001c0003t0002g0106 a0001c0003t0046g0095 others(1): Show |
4 | 190 | 0.0211 | 15 | c.963 others(34): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117858805 | C | CAGGAAGG others(8): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0176 | 1 | 190 | 0.0053 | 15 | c.963 others(34): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117867260 | G | GAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0134 | 1 | 190 | 0.0053 | 15 | c.963 others(34): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117874575 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01243.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0023a0001c0003t0017 | a0001c0001t0023g0169 a0001c0003t0017g0186 |
2 | 190 | 0.0105 | 15 | c.963 others(34): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117897591 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02559.hp1 |
a0001 | a0001c0004a0001c0007 | a0001c0004t0013a0001c0007t0013 | a0001c0004t0013g0005 a0001c0007t0013g0014 |
2 | 190 | 0.0105 | 15 | c.963 others(34): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117915855 | C | CAAACAAA others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00738.hp1 HG01071.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0010a0001c0003t0001others(2): Show | a0001c0001t0001g0020 a0001c0001t0001g0123 a0001c0001t0001g0141 others(5): Show |
8 | 190 | 0.0421 | 15 | c.963 others(34): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117973800 | A | AGAAAGGA others(8): Show |
intron_variant | MODIFIER | HG02280.hp1 NA18952.hp1 NA18975.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0014 | a0001c0001t0005g0071 a0001c0001t0008g0102 a0001c0001t0014g0007 |
3 | 190 | 0.0158 | 15 | c.962 others(36): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117973886 | G | GAAAGGAA others(8): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02523.hp1 HG02572.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0033a0001c0002t0022a0001c0002t0042 | a0001c0001t0033g0015 a0001c0002t0022g0137 a0001c0002t0042g0124 |
3 | 190 | 0.0158 | 15 | c.962 others(36): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 118073632 | A | AAGAAGAG others(8): Show |
intron_variant | MODIFIER | HG01071.hp2 HG04115.hp2 NA18957.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0035a0001c0003t0002others(2): Show | a0001c0001t0003g0038 a0001c0001t0003g0087 a0001c0001t0035g0017 others(3): Show |
6 | 190 | 0.0316 | 15 | c.962 others(34): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 118073705 | A | AAGAGAAG others(8): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02818.hp1 HG02818.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0055a0001c0001t0061a0001c0001t0068others(2): Show | a0001c0001t0055g0088 a0001c0001t0061g0167 a0001c0001t0068g0189 others(2): Show |
5 | 190 | 0.0263 | 15 | c.962 others(34): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT2_chr11_44090678_44256962 | 44187051 | T | TTCCCTCC others(8): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 334 | 0.0030 | 15 | c.130 others(36): Show |
EXT2 | ENSG00000151348.16 | transcript | ENST00000533608.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EXTL3_chr8_28696501_28760599 | 28701617 | A | AGGCGGCG others(8): Show |
5_prime_UTR_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0109 | 1 | 380 | 0.0026 | 15 | c.-60 others(24): Show |
EXTL3 | ENSG00000012232.10 | transcript | ENST00000220562.9 | protein_coding | 1/7 | 14419 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |