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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
THUMPD1_chr16_20728664_20746818 | 20742813 | A | ATATATAT others(6): Show |
upstream_gene_variant | MODIFIER | HG04199.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0008 | 1 | 314 | 0.0032 | 13 | c.-10 others(24): Show |
THUMPD1 | ENSG00000066654.14 | transcript | ENST00000396083.7 | protein_coding | 996 | chr16 | TogoVar | |||||||
THUMPD2_chr2_39731061_39784258 | 39767603 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01106.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0047 a0001c0001t0005g0060 |
2 | 109 | 0.0183 | 13 | c.750 others(28): Show |
THUMPD2 | ENSG00000138050.15 | transcript | ENST00000505747.6 | protein_coding | 4/9 | chr2 | TogoVar | |||||||
TH_chr11_2158929_2176815 | 2161648 | A | ACACCCCT others(6): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 | 1 | 285 | 0.0035 | 13 | c.*25 others(24): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 2280 | chr11 | TogoVar | |||||||
TH_chr11_2158929_2176815 | 2161729 | C | CCCCACAC others(6): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00673.hp1 others(24): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0003t0001a0002c0001t0001 | a0001c0002t0001g0003 a0001c0002t0001g0030 a0001c0003t0001g0004 others(7): Show |
27 | 383 | 0.0705 | 13 | c.*25 others(24): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 2199 | chr11 | TogoVar | |||||||
TH_chr11_2158929_2176815 | 2161846 | A | ACACCCCT others(6): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG01175.hp2 HG01358.hp1 others(32): Show |
a0001a0002a0004 | a0001c0002a0002c0001a0004c0015 | a0001c0002t0001a0002c0001t0001a0004c0015t0001 | a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0033 others(10): Show |
35 | 107 | 0.3271 | 13 | c.*23 others(24): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 2082 | chr11 | TogoVar | |||||||
TH_chr11_2158929_2176815 | 2161847 | G | GACCCCTG others(6): Show |
downstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005 | 1 | 341 | 0.0029 | 13 | c.*23 others(24): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 2081 | chr11 | TogoVar | |||||||
TH_chr11_2158929_2176815 | 2161903 | A | ACACCCCT others(6): Show |
downstream_gene_variant | MODIFIER | HG02717.hp2 HG03209.hp1 HG03471.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0015 a0001c0002t0001g0037 a0001c0003t0001g0052 |
4 | 42 | 0.0952 | 13 | c.*23 others(24): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 2025 | chr11 | TogoVar | |||||||
TIAM1_chr21_31113418_31349261 | 31197539 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01069.hp1 HG01071.hp1 others(8): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0005a0002c0003t0002a0002c0003t0003others(4): Show | a0001c0002t0005g0002 a0002c0003t0002g0102 a0002c0003t0002g0191 others(8): Show |
11 | 151 | 0.0728 | 13 | c.249 others(32): Show |
TIAM1 | ENSG00000156299.15 | transcript | ENST00000541036.6 | protein_coding | 12/27 | chr21 | TogoVar | |||||||
TIAM1_chr21_31113418_31349261 | 31210814 | G | GAAAGAAA others(6): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0148 | 1 | 203 | 0.0049 | 13 | c.221 others(30): Show |
TIAM1 | ENSG00000156299.15 | transcript | ENST00000541036.6 | protein_coding | 10/27 | chr21 | TogoVar | |||||||
TIAM1_chr21_31113418_31349261 | 31213866 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02896.hp2 |
a0003 | a0003c0008a0003c0010 | a0003c0008t0017a0003c0010t0006 | a0003c0008t0017g0137 a0003c0010t0006g0079 |
2 | 133 | 0.0150 | 13 | c.214 others(30): Show |
TIAM1 | ENSG00000156299.15 | transcript | ENST00000541036.6 | protein_coding | 9/27 | chr21 | TogoVar | |||||||
TIAM1_chr21_31113418_31349261 | 31213866 | C | CCAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0045 | 1 | 132 | 0.0076 | 13 | c.214 others(30): Show |
TIAM1 | ENSG00000156299.15 | transcript | ENST00000541036.6 | protein_coding | 9/27 | chr21 | TogoVar | |||||||
TIAM1_chr21_31113418_31349261 | 31228245 | A | AGGATTTT others(6): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0016 | 1 | 154 | 0.0065 | 13 | c.158 others(32): Show |
TIAM1 | ENSG00000156299.15 | transcript | ENST00000541036.6 | protein_coding | 6/27 | chr21 | TogoVar | |||||||
TIAM1_chr21_31113418_31349261 | 31315679 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01257.hp1 HG01257.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0017 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(3): Show | a0001c0001t0002g0101 a0001c0001t0002g0110 a0001c0001t0002g0211 others(8): Show |
11 | 58 | 0.1897 | 13 | c.-18 others(34): Show |
TIAM1 | ENSG00000156299.15 | transcript | ENST00000541036.6 | protein_coding | 2/27 | chr21 | TogoVar | |||||||
TIAM2_chr6_154990315_155262723 | 155064881 | T | TTTCTCCC others(6): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00558.hp1 others(91): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0002a0001c0004others(32): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(57): Show | a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0034 others(91): Show |
94 | 228 | 0.4123 | 13 | c.-20 others(34): Show |
TIAM2 | ENSG00000146426.19 | transcript | ENST00000682666.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TIAM2_chr6_154990315_155262723 | 155087882 | A | ATTTCTGA others(6): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(139): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0002a0001c0004others(46): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(81): Show | a0001c0001t0001g0021 a0001c0001t0001g0043 a0001c0001t0001g0056 others(139): Show |
142 | 228 | 0.6228 | 13 | c.-20 others(32): Show |
TIAM2 | ENSG00000146426.19 | transcript | ENST00000682666.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TIAM2_chr6_154990315_155262723 | 155114036 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 152 | 0.0066 | 13 | c.-11 others(34): Show |
TIAM2 | ENSG00000146426.19 | transcript | ENST00000682666.1 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TIAM2_chr6_154990315_155262723 | 155164133 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0002 | a0002c0024 | a0002c0024t0017 | a0002c0024t0017g0179 | 1 | 60 | 0.0167 | 13 | c.202 others(30): Show |
TIAM2 | ENSG00000146426.19 | transcript | ENST00000682666.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TIAM2_chr6_154990315_155262723 | 155187573 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0009 | a0001c0009t0012 | a0001c0009t0012g0189 | 1 | 88 | 0.0114 | 13 | c.306 others(32): Show |
TIAM2 | ENSG00000146426.19 | transcript | ENST00000682666.1 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TIAM2_chr6_154990315_155262723 | 155203048 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01884.hp2 HG02723.hp1 others(5): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0001c0009others(5): Show | a0001c0001t0003a0001c0002t0010a0001c0009t0008others(5): Show | a0001c0001t0003g0109 a0001c0002t0010g0154 a0001c0009t0008g0157 others(5): Show |
8 | 73 | 0.1096 | 13 | c.306 others(32): Show |
TIAM2 | ENSG00000146426.19 | transcript | ENST00000682666.1 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TIAM2_chr6_154990315_155262723 | 155239904 | T | TTACCATC others(6): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0002 | a0002c0032 | a0002c0032t0003 | a0002c0032t0003g0110 | 1 | 228 | 0.0044 | 13 | c.316 others(30): Show |
TIAM2 | ENSG00000146426.19 | transcript | ENST00000682666.1 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TICAM1_chr19_4810932_4836712 | 4824384 | G | GAGTGCAG others(6): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02895.hp2 HG03139.hp1 others(2): Show |
a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0300 a0002c0004t0005g0301 a0002c0004t0005g0302 others(2): Show |
5 | 410 | 0.0122 | 13 | c.-13 others(32): Show |
TICAM1 | ENSG00000127666.11 | transcript | ENST00000248244.6 | protein_coding | 1/1 | chr19 | TogoVar | |||||||
TICAM2_chr5_115573496_115607479 | 115578195 | A | ATTTTTCT others(6): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG01123.hp2 others(20): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0007a0002c0002t0027 | a0001c0001t0001g0003 a0001c0001t0001g0138 a0001c0001t0001g0145 others(3): Show |
23 | 139 | 0.1655 | 13 | c.*23 others(24): Show |
TICAM2 | ENSG00000243414.6 | transcript | ENST00000427199.3 | protein_coding | 300 | chr5 | TogoVar | |||||||
TICAM2_chr5_115573496_115607479 | 115578195 | A | ATTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 117 | 0.0085 | 13 | c.*23 others(24): Show |
TICAM2 | ENSG00000243414.6 | transcript | ENST00000427199.3 | protein_coding | 300 | chr5 | TogoVar | |||||||
TICAM2_chr5_115573496_115607479 | 115578206 | T | TTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0038 | 1 | 398 | 0.0025 | 13 | c.*23 others(24): Show |
TICAM2 | ENSG00000243414.6 | transcript | ENST00000427199.3 | protein_coding | 289 | chr5 | TogoVar | |||||||
TICRR_chr15_89570469_89633023 | 89609100 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02145.hp1 HG02257.hp1 others(2): Show |
a0004a0007a0017 | a0004c0007a0007c0008a0007c0014others(1): Show | a0004c0007t0004a0007c0008t0005a0007c0014t0001others(1): Show | a0004c0007t0004g0287 a0004c0007t0004g0291 a0007c0008t0005g0179 others(2): Show |
5 | 64 | 0.0781 | 13 | c.286 others(30): Show |
TICRR | ENSG00000140534.14 | transcript | ENST00000268138.12 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TIGAR_chr12_4316213_4365028 | 4338975 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02451.hp1 HG02523.hp1 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0014a0001c0002t0032others(3): Show | a0001c0002t0002g0001 a0001c0002t0002g0037 a0001c0002t0002g0164 others(6): Show |
10 | 225 | 0.0444 | 13 | c.192 others(30): Show |
TIGAR | ENSG00000078237.7 | transcript | ENST00000179259.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TIGAR_chr12_4316213_4365028 | 4363262 | T | TGTGTGTG others(6): Show |
downstream_gene_variant | MODIFIER | HG02071.hp1 HG04204.hp1 HG04228.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0031a0001c0001t0134a0001c0002t0119 | a0001c0001t0031g0130 a0001c0001t0134g0114 a0001c0002t0119g0048 |
3 | 18 | 0.1667 | 13 | c.*10 others(26): Show |
TIGAR | ENSG00000078237.7 | transcript | ENST00000179259.6 | protein_coding | 3235 | chr12 | TogoVar | |||||||
TIGD4_chr4_152764354_152784730 | 152782903 | C | CAGCTCAT others(6): Show |
upstream_gene_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 422 | 0.0024 | 13 | c.-39 others(24): Show |
TIGD4 | ENSG00000169989.3 | transcript | ENST00000304337.3 | protein_coding | 3174 | chr4 | TogoVar | |||||||
TIMELESS_chr12_56411363_56454426 | 56420006 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 243 | 0.0041 | 13 | c.322 others(30): Show |
TIMELESS | ENSG00000111602.12 | transcript | ENST00000553532.6 | protein_coding | 26/28 | chr12 | TogoVar | |||||||
TIMELESS_chr12_56411363_56454426 | 56420029 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0159 | 1 | 255 | 0.0039 | 13 | c.322 others(30): Show |
TIMELESS | ENSG00000111602.12 | transcript | ENST00000553532.6 | protein_coding | 26/28 | chr12 | TogoVar | |||||||
TIMELESS_chr12_56411363_56454426 | 56420029 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0119 | 1 | 255 | 0.0039 | 13 | c.322 others(30): Show |
TIMELESS | ENSG00000111602.12 | transcript | ENST00000553532.6 | protein_coding | 26/28 | chr12 | TogoVar | |||||||
TIMM22_chr17_992129_1008671 | 996144 | A | ATTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0003 | a0001c0003t0021 | a0001c0003t0021g0065 | 1 | 86 | 0.0116 | 13 | c.-99 others(22): Show |
TIMM22 | ENSG00000177370.5 | transcript | ENST00000327158.5 | protein_coding | 984 | chr17 | TogoVar | |||||||
TIMM23B_chr10_49937053_49979850 | 49961017 | A | AGAAGCCT others(6): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0277 | 1 | 374 | 0.0027 | 13 | c.514 others(30): Show |
TIMM23B | ENSG00000204152.14 | transcript | ENST00000651259.3 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
TIMM23_chr10_45967489_46008742 | 45971879 | C | CCTGGGTC others(6): Show |
upstream_gene_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 398 | 0.0025 | 13 | c.-74 others(22): Show |
TIMM23 | ENSG00000265354.4 | transcript | ENST00000580018.4 | protein_coding | 609 | chr10 | TogoVar | |||||||
TIMM23_chr10_45967489_46008742 | 45993244 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(122): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 others(97): Show |
125 | 169 | 0.7396 | 13 | c.514 others(30): Show |
TIMM23 | ENSG00000265354.4 | transcript | ENST00000580018.4 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
TIMM50_chr19_39475838_39498779 | 39492892 | A | AAAAAAAA others(6): Show |
3_prime_UTR_variant | MODIFIER | NA18989.hp2 NA19010.hp2 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014 | a0001c0001t0002g0002 a0001c0001t0014g0002 |
3 | 425 | 0.0071 | 13 | c.*30 others(24): Show |
TIMM50 | ENSG00000105197.11 | transcript | ENST00000607714.6 | protein_coding | 11/11 | 3073 | chr19 | TogoVar | ||||||
TIMM9_chr14_58403495_58432531 | 58404119 | A | ATATATTT others(6): Show |
downstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069 | 1 | 29 | 0.0345 | 13 | c.*49 others(24): Show |
TIMM9 | ENSG00000100575.14 | transcript | ENST00000395159.7 | protein_coding | 4375 | chr14 | TogoVar | |||||||
TIMM9_chr14_58403495_58432531 | 58404119 | A | ATATTTTT others(6): Show |
downstream_gene_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 29 | 0.0345 | 13 | c.*49 others(24): Show |
TIMM9 | ENSG00000100575.14 | transcript | ENST00000395159.7 | protein_coding | 4375 | chr14 | TogoVar | |||||||
TIMM9_chr14_58403495_58432531 | 58404119 | A | ATTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 29 | 0.0345 | 13 | c.*49 others(24): Show |
TIMM9 | ENSG00000100575.14 | transcript | ENST00000395159.7 | protein_coding | 4375 | chr14 | TogoVar | |||||||
TIMMDC1_chr3_119493547_119530090 | 119495225 | C | CAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 22 | 0.0455 | 13 | c.-35 others(24): Show |
TIMMDC1 | ENSG00000113845.10 | transcript | ENST00000494664.6 | protein_coding | 3321 | chr3 | TogoVar | |||||||
TIMMDC1_chr3_119493547_119530090 | 119519121 | C | CACCAATA others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(353): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0032 a0001c0001t0001g0072 a0001c0001t0001g0073 others(157): Show |
356 | 428 | 0.8318 | 13 | c.707 others(30): Show |
TIMMDC1 | ENSG00000113845.10 | transcript | ENST00000494664.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TINAGL1_chr1_31571515_31592686 | 31577376 | C | CTGCAACC others(6): Show |
frameshift_variant | HIGH | NA19075.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0211 | 1 | 438 | 0.0023 | 13 | c.230 others(20): Show |
p.Ser others(4): Show |
TINAGL1 | ENSG00000142910.16 | transcript | ENST00000271064.12 | protein_coding | 2/12 | 339/2207 | 243/1404 | 81/467 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
TINAG_chr6_54303441_54395142 | 54360839 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0310 | 1 | 371 | 0.0027 | 13 | c.125 others(32): Show |
TINAG | ENSG00000137251.16 | transcript | ENST00000259782.9 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TINAG_chr6_54303441_54395142 | 54360841 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02451.hp1 HG02965.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0088 a0001c0001t0001g0124 a0001c0001t0001g0174 others(4): Show |
7 | 64 | 0.1094 | 13 | c.125 others(32): Show |
TINAG | ENSG00000137251.16 | transcript | ENST00000259782.9 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TJP1_chr15_29695152_29827468 | 29722506 | T | TCAGAGGA others(6): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199 | 1 | 260 | 0.0038 | 13 | c.241 others(32): Show |
TJP1 | ENSG00000104067.17 | transcript | ENST00000614355.5 | protein_coding | 18/27 | chr15 | TogoVar | |||||||
TJP1_chr15_29695152_29827468 | 29824081 | C | CAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 HG02965.hp1 |
a0001a0009 | a0001c0002a0009c0020 | a0001c0002t0007a0009c0020t0007 | a0001c0002t0007g0063 a0009c0020t0007g0062 |
2 | 106 | 0.0189 | 13 | c.-20 others(24): Show |
TJP1 | ENSG00000104067.17 | transcript | ENST00000614355.5 | protein_coding | 1614 | chr15 | TogoVar | |||||||
TJP2_chr9_69169277_69260208 | 69203607 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02738.hp2 NA19012.hp1 |
a0001a0004 | a0001c0002a0004c0006 | a0001c0002t0001a0004c0006t0002 | a0001c0002t0001g0063 a0004c0006t0002g0166 |
2 | 110 | 0.0182 | 13 | c.61- others(28): Show |
TJP2 | ENSG00000119139.21 | transcript | ENST00000377245.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TJP2_chr9_69169277_69260208 | 69234398 | C | CTTTCTTT others(6): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0010 | a0010c0015 | a0010c0015t0002 | a0010c0015t0002g0178 | 1 | 263 | 0.0038 | 13 | c.167 others(28): Show |
TJP2 | ENSG00000119139.21 | transcript | ENST00000377245.9 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TJP3_chr19_3703384_3755813 | 3738080 | A | ATGGCTGT others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(280): Show |
a0001a0002a0003others(21): Show | a0001c0002a0001c0005a0001c0012others(43): Show | a0001c0002t0001a0001c0002t0004a0001c0005t0001others(60): Show | a0001c0002t0001g0002 a0001c0002t0001g0118 a0001c0002t0001g0139 others(278): Show |
283 | 396 | 0.7146 | 13 | c.128 others(30): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TK1_chr17_78169091_78192052 | 78187960 | C | CAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 HG03453.hp1 NA18952.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0008 a0001c0001t0001g0116 a0001c0003t0002g0002 others(1): Show |
4 | 132 | 0.0303 | 13 | c.-97 others(22): Show |
TK1 | ENSG00000167900.12 | transcript | ENST00000301634.12 | protein_coding | 909 | chr17 | TogoVar |