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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TEKT1_chr17_6792993_6836729 | 6793081 | A | AAGAAAGA others(43): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 NA20300.hp2 |
a0002a0008 | a0002c0003a0008c0015 | a0002c0003t0002a0008c0015t0023 | a0002c0003t0002g0002a0008c0015t0023g0219 | 2 | 406 | 0.0049 | 50 | c.*69 others(61): Show |
TEKT1 | ENSG00000167858.13 | transcript | ENST00000338694.7 | protein_coding | 4911 | chr17 | TogoVar | ||||||
TELO2_chr16_1488360_1515454 | 1498940 | A | AGGGTGGA others(43): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0004 | a0004c0003 | a0004c0003t0002 | a0004c0003t0002g0293 | 1 | 446 | 0.0022 | 50 | c.831 others(65): Show |
TELO2 | ENSG00000100726.15 | transcript | ENST00000262319.11 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TENM2_chr5_166974029_168269157 | 167431914 | G | GATATATA others(43): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03195.hp1 HG03209.hp2 |
a0001a0004 | a0001c0002a0001c0010a0004c0009 | a0001c0002t0013a0001c0010t0001a0004c0009t0018 | a0001c0002t0013g0041a0001c0010t0001g0043a0004c0009t0018g0033 | 3 | 54 | 0.0556 | 50 | c.502 others(69): Show |
TENM2 | ENSG00000145934.17 | transcript | ENST00000518659.6 | protein_coding | 4/30 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
TENM4_chr11_78647829_79446030 | 79164243 | A | ATAGTATA others(43): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02886.hp1 HG03492.hp2 |
a0001a0003 | a0001c0005a0001c0039a0003c0010 | a0001c0005t0002a0001c0039t0046a0003c0010t0011 | a0001c0005t0002g0032a0001c0039t0046g0057a0003c0010t0011g0017 | 3 | 94 | 0.0319 | 50 | c.-16 others(71): Show |
TENM4 | ENSG00000149256.16 | transcript | ENST00000278550.12 | protein_coding | 3/33 | chr11 | TogoVar | ||||||
TENM4_chr11_78647829_79446030 | 79384937 | T | TTAAAATA others(43): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0028 | a0001c0028t0060 | a0001c0028t0060g0087 | 1 | 94 | 0.0106 | 50 | c.-32 others(71): Show |
TENM4 | ENSG00000149256.16 | transcript | ENST00000278550.12 | protein_coding | 1/33 | chr11 | TogoVar | ||||||
TENT2_chr5_79607441_79693246 | 79612345 | G | GGGGGGGT others(43): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0026 | a0001c0001t0004g0072a0001c0001t0004g0073a0001c0001t0026g0069 | 3 | 344 | 0.0087 | 50 | c.-76 others(59): Show |
TENT2 | ENSG00000164329.15 | transcript | ENST00000453514.6 | protein_coding | 95 | chr5 | TogoVar | ||||||
TENT5A_chr6_81740730_81757681 | 81740909 | A | ATATAATA others(43): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 NA18998.hp2 NA19081.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 | 3 | 446 | 0.0067 | 50 | c.*87 others(61): Show |
TENT5A | ENSG00000112773.16 | transcript | ENST00000320172.11 | protein_coding | 4820 | chr6 | TogoVar | ||||||
TENT5A_chr6_81740730_81757681 | 81740909 | A | ATATAATA others(43): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 HG02647.hp1 HG02886.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0014a0001c0001t0029a0004c0004t0014 | a0001c0001t0014g0029a0001c0001t0029g0060a0004c0004t0014g0027 | 4 | 446 | 0.0090 | 50 | c.*87 others(61): Show |
TENT5A | ENSG00000112773.16 | transcript | ENST00000320172.11 | protein_coding | 4820 | chr6 | TogoVar | ||||||
TET2_chr4_105141876_105284803 | 105278071 | A | ATAAAGAA others(43): Show |
3_prime_UTR_variant | MODIFIER | HG03710.hp1 | a0015 | a0015c0020 | a0015c0020t0069 | a0015c0020t0069g0156 | 1 | 348 | 0.0029 | 50 | c.*15 others(61): Show |
TET2 | ENSG00000168769.14 | transcript | ENST00000380013.9 | protein_coding | 11/11 | 1604 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
TEX11_chrX_70523940_70913711 | 70577753 | C | CAGTCTCT others(43): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 229 | 0.0044 | 50 | c.214 others(71): Show |
TEX11 | ENSG00000120498.14 | transcript | ENST00000374333.7 | protein_coding | 25/29 | chrX | TogoVar | ||||||
TEX11_chrX_70523940_70913711 | 70869066 | A | ATAAAATA others(43): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0099 | 1 | 229 | 0.0044 | 50 | c.244 others(67): Show |
TEX11 | ENSG00000120498.14 | transcript | ENST00000374333.7 | protein_coding | 4/29 | chrX | TogoVar | ||||||
TEX15_chr8_30826544_30918008 | 30889949 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0036 | a0036c0028 | a0036c0028t0001 | a0036c0028t0001g0281 | 1 | 294 | 0.0034 | 50 | c.-9- others(65): Show |
TEX15 | ENSG00000133863.9 | transcript | ENST00000643185.2 | protein_coding | 2/10 | chr8 | TogoVar | ||||||
TEX19_chr17_82354247_82368775 | 82360919 | G | GTTCCCCC others(43): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 380 | 0.0026 | 50 | c.-27 others(67): Show |
TEX19 | ENSG00000182459.5 | transcript | ENST00000333437.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
TEX19_chr17_82354247_82368775 | 82361270 | T | TTTCCCTC others(43): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(347): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0008others(46): Show | 350 | 380 | 0.9211 | 50 | c.-27 others(67): Show |
TEX19 | ENSG00000182459.5 | transcript | ENST00000333437.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
THEG_chr19_356747_381026 | 365620 | T | TAGCAAGT others(43): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089 | 1 | 370 | 0.0027 | 50 | c.913 others(67): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 7/7 | chr19 | TogoVar | ||||||
THEG_chr19_356747_381026 | 365620 | T | TAGCAAGT others(43): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085 | 1 | 370 | 0.0027 | 50 | c.913 others(67): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 7/7 | chr19 | TogoVar | ||||||
THEG_chr19_356747_381026 | 376741 | T | TCTGTGCC others(43): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 HG02630.hp2 HG02965.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0015 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(1): Show | a0001c0001t0001g0180a0001c0001t0007g0237a0001c0001t0008g0183others(1): Show | 4 | 370 | 0.0108 | 50 | c.-77 others(59): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 716 | chr19 | TogoVar | ||||||
THEG_chr19_356747_381026 | 376841 | C | CCCCCCTG others(43): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 370 | 0.0027 | 50 | c.-87 others(59): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 816 | chr19 | TogoVar | ||||||
THEG_chr19_356747_381026 | 376879 | C | CCCCACCC others(43): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 HG03491.hp1 HG04199.hp1 others(3): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0014others(1): Show | a0001c0001t0001a0001c0001t0058a0002c0002t0001others(2): Show | a0001c0001t0001g0305a0001c0001t0001g0346a0001c0001t0058g0220others(3): Show | 6 | 370 | 0.0162 | 50 | c.-91 others(59): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 854 | chr19 | TogoVar | ||||||
THEG_chr19_356747_381026 | 377008 | C | CCCCACCC others(43): Show |
upstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0084 | 1 | 370 | 0.0027 | 50 | c.-10 others(61): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 983 | chr19 | TogoVar | ||||||
THEG_chr19_356747_381026 | 377282 | C | CCCCCCTG others(43): Show |
upstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0062 | 1 | 370 | 0.0027 | 50 | c.-13 others(61): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1257 | chr19 | TogoVar | ||||||
THEG_chr19_356747_381026 | 377283 | C | CCCCTCTG others(43): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0170 | 1 | 370 | 0.0027 | 50 | c.-13 others(61): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1258 | chr19 | TogoVar | ||||||
THEG_chr19_356747_381026 | 377288 | C | CGTGCCCC others(43): Show |
upstream_gene_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 | 1 | 370 | 0.0027 | 50 | c.-13 others(61): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1263 | chr19 | TogoVar | ||||||
THEG_chr19_356747_381026 | 377320 | C | CCCCACCC others(43): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 NA18942.hp1 NA19090.hp2 |
a0002 | a0002c0002a0002c0014 | a0002c0002t0001a0002c0014t0001 | a0002c0002t0001g0170a0002c0002t0001g0204a0002c0014t0001g0135 | 3 | 370 | 0.0081 | 50 | c.-13 others(61): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1295 | chr19 | TogoVar | ||||||
THEG_chr19_356747_381026 | 377475 | C | CCCCACCC others(43): Show |
upstream_gene_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0009 | a0001c0009t0003 | a0001c0009t0003g0340 | 1 | 370 | 0.0027 | 50 | c.-15 others(61): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1450 | chr19 | TogoVar | ||||||
THEG_chr19_356747_381026 | 377502 | C | CCCCACCC others(43): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0019 | a0001c0019t0003 | a0001c0019t0003g0137 | 1 | 370 | 0.0027 | 50 | c.-15 others(61): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1477 | chr19 | TogoVar | ||||||
THEM4_chr1_151865866_151914511 | 151869925 | T | TTTCTTTC others(43): Show |
downstream_gene_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 374 | 0.0027 | 50 | c.*49 others(61): Show |
THEM4 | ENSG00000159445.13 | transcript | ENST00000368814.8 | protein_coding | 940 | chr1 | TogoVar | ||||||
THRB_chr3_24112153_24499850 | 24233583 | G | GAAAGAAA others(43): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0108 | 1 | 178 | 0.0056 | 50 | c.-42 others(67): Show |
THRB | ENSG00000151090.20 | transcript | ENST00000646209.2 | protein_coding | 3/10 | chr3 | TogoVar | ||||||
THSD4_chr15_71110471_71788383 | 71577709 | A | ATTTATTT others(43): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01361.hp1 HG01978.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(4): Show | a0001c0001t0001g0087a0001c0001t0002g0075a0001c0001t0009g0085others(4): Show | 7 | 116 | 0.0603 | 50 | c.115 others(71): Show |
THSD4 | ENSG00000187720.15 | transcript | ENST00000261862.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
TIAM1_chr21_31113418_31349261 | 31228230 | A | AAAAAAAA others(43): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0130 | 1 | 212 | 0.0047 | 50 | c.158 others(69): Show |
TIAM1 | ENSG00000156299.15 | transcript | ENST00000541036.6 | protein_coding | 6/27 | chr21 | TogoVar | ||||||
TIAM1_chr21_31113418_31349261 | 31228235 | A | AAAAAAAA others(43): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0025 | a0001c0025t0004 | a0001c0025t0004g0163 | 1 | 212 | 0.0047 | 50 | c.158 others(69): Show |
TIAM1 | ENSG00000156299.15 | transcript | ENST00000541036.6 | protein_coding | 6/27 | chr21 | TogoVar | ||||||
TIMD4_chr5_156914292_156968226 | 156933006 | A | AAAAAGAA others(43): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0239 | 1 | 312 | 0.0032 | 50 | c.845 others(67): Show |
TIMD4 | ENSG00000145850.9 | transcript | ENST00000274532.7 | protein_coding | 5/8 | chr5 | TogoVar | ||||||
TIMP2_chr17_78847977_78930387 | 78904091 | A | ATGTGTGT others(43): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0309 | 1 | 316 | 0.0032 | 50 | c.130 others(69): Show |
TIMP2 | ENSG00000035862.13 | transcript | ENST00000262768.11 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
TLL1_chr4_165868237_166109457 | 166052965 | G | GTGTATGT others(43): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0237 | 1 | 250 | 0.0040 | 50 | c.152 others(69): Show |
TLL1 | ENSG00000038295.8 | transcript | ENST00000061240.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
TLL1_chr4_165868237_166109457 | 166052965 | G | GTGTGTGT others(43): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02486.hp2 |
a0001a0003 | a0001c0022a0003c0008 | a0001c0022t0070a0003c0008t0017 | a0001c0022t0070g0004a0003c0008t0017g0151 | 2 | 250 | 0.0080 | 50 | c.152 others(69): Show |
TLL1 | ENSG00000038295.8 | transcript | ENST00000061240.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
TLR2_chr4_153679280_153711260 | 153684832 | C | CGGCCCTC others(43): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0120 | 1 | 432 | 0.0023 | 50 | c.-16 others(67): Show |
TLR2 | ENSG00000137462.9 | transcript | ENST00000642700.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
TM9SF4_chr20_32104714_32172256 | 32123170 | A | AGGGGGAG others(43): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 298 | 0.0034 | 50 | c.16- others(65): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TM9SF4_chr20_32104714_32172256 | 32123211 | A | AGAGGGGG others(43): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0279 | 1 | 298 | 0.0034 | 50 | c.16- others(65): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TM9SF4_chr20_32104714_32172256 | 32123226 | A | AGGGGGGA others(43): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 298 | 0.0034 | 50 | c.16- others(65): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TMCC3_chr12_94562122_94655557 | 94594216 | T | TATATATA others(43): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0004 | a0001c0004t0031 | a0001c0004t0031g0027 | 1 | 378 | 0.0027 | 50 | c.79- others(67): Show |
TMCC3 | ENSG00000057704.13 | transcript | ENST00000261226.9 | protein_coding | 1/3 | chr12 | TogoVar | ||||||
TMCO3_chr13_113486021_113555229 | 113509400 | G | GTGTATGT others(43): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00597.hp2 others(68): Show |
a0003a0005a0007others(1): Show | a0003c0002a0003c0016a0003c0023others(3): Show | a0003c0002t0002a0003c0016t0002a0003c0023t0002others(3): Show | a0003c0002t0002g0006a0003c0002t0002g0009a0003c0002t0002g0010others(64): Show | 71 | 368 | 0.1929 | 50 | c.103 others(67): Show |
TMCO3 | ENSG00000150403.18 | transcript | ENST00000434316.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
TMEM120A_chr7_75981831_75999595 | 75988765 | A | AGAAGGCC others(43): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00621.hp2 NA18939.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031a0001c0001t0001g0034a0001c0001t0001g0209others(6): Show | 11 | 368 | 0.0299 | 50 | c.378 others(65): Show |
TMEM120A | ENSG00000189077.11 | transcript | ENST00000493111.7 | protein_coding | 4/11 | chr7 | TogoVar | ||||||
TMEM120A_chr7_75981831_75999595 | 75988765 | A | AGAAGGCC others(43): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 368 | 0.0027 | 50 | c.378 others(65): Show |
TMEM120A | ENSG00000189077.11 | transcript | ENST00000493111.7 | protein_coding | 4/11 | chr7 | TogoVar | ||||||
TMEM120A_chr7_75981831_75999595 | 75988901 | T | TGGGGGGG others(43): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0208 | 1 | 368 | 0.0027 | 50 | c.377 others(65): Show |
TMEM120A | ENSG00000189077.11 | transcript | ENST00000493111.7 | protein_coding | 4/11 | chr7 | TogoVar | ||||||
TMEM120A_chr7_75981831_75999595 | 75988901 | T | TGGGGGGG others(43): Show |
intron_variant | MODIFIER | HG03492.hp1 NA18946.hp1 NA18975.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223a0001c0001t0001g0234a0001c0001t0001g0237others(1): Show | 4 | 368 | 0.0109 | 50 | c.377 others(65): Show |
TMEM120A | ENSG00000189077.11 | transcript | ENST00000493111.7 | protein_coding | 4/11 | chr7 | TogoVar | ||||||
TMEM120A_chr7_75981831_75999595 | 75988926 | T | TGGGGGGG others(43): Show |
intron_variant | MODIFIER | HG02273.hp1 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249a0001c0001t0001g0252 | 2 | 368 | 0.0054 | 50 | c.377 others(65): Show |
TMEM120A | ENSG00000189077.11 | transcript | ENST00000493111.7 | protein_coding | 4/11 | chr7 | TogoVar | ||||||
TMEM130_chr7_98841490_98875014 | 98842402 | T | TATATATA others(43): Show |
downstream_gene_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0014 | 1 | 380 | 0.0026 | 50 | c.*56 others(61): Show |
TMEM130 | ENSG00000166448.15 | transcript | ENST00000339375.9 | protein_coding | 4087 | chr7 | TogoVar | ||||||
TMEM132B_chr12_125181386_125667369 | 125432493 | G | GTATATAT others(43): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0001 | a0002c0001t0007 | a0002c0001t0007g0069 | 1 | 128 | 0.0078 | 50 | c.110 others(71): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM132B_chr12_125181386_125667369 | 125474056 | T | TTTTCCTT others(43): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0005 | a0002c0005t0051 | a0002c0005t0051g0099 | 1 | 128 | 0.0078 | 50 | c.110 others(71): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM132C_chr12_128262170_128712911 | 128559106 | C | CACACACA others(43): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02886.hp2 NA21309.hp1 |
a0002a0006a0033 | a0002c0004a0006c0024a0033c0092 | a0002c0004t0003a0006c0024t0002a0033c0092t0005 | a0002c0004t0003g0059a0006c0024t0002g0141a0033c0092t0005g0019 | 3 | 170 | 0.0177 | 50 | c.112 others(71): Show |
TMEM132C | ENSG00000181234.10 | transcript | ENST00000435159.3 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |