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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TRPM8_chr2_233912373_234024522 | 233927775 | TTTCTTTC others(22): Show |
T | intron_variant | MODIFIER | HG02896.hp1 NA18939.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0003t0002 | a0001c0001t0005g0090 a0001c0003t0002g0031 |
2 | 275 | 0.0073 | -29 | c.117 others(46): Show |
TRPM8 | ENSG00000144481.17 | transcript | ENST00000324695.9 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TRPM8_chr2_233912373_234024522 | 233927779 | TTTCTTTC others(22): Show |
T | intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0174 | 1 | 265 | 0.0038 | -29 | c.117 others(46): Show |
TRPM8 | ENSG00000144481.17 | transcript | ENST00000324695.9 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TRPM8_chr2_233912373_234024522 | 233927783 | TTTCTTTC others(22): Show |
T | intron_variant | MODIFIER | NA18975.hp1 NA20129.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0002a0002c0002t0004 | a0001c0003t0002g0029 a0002c0002t0004g0013 |
2 | 265 | 0.0075 | -29 | c.117 others(46): Show |
TRPM8 | ENSG00000144481.17 | transcript | ENST00000324695.9 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TRPV4_chr12_109778089_109838398 | 109813542 | TTTGTATA others(22): Show |
T | intron_variant | MODIFIER | HG02717.hp1 HG03195.hp2 |
a0001 | a0001c0003a0001c0020 | a0001c0003t0001a0001c0020t0001 | a0001c0003t0001g0077 a0001c0020t0001g0160 |
2 | 342 | 0.0058 | -29 | c.386 others(44): Show |
TRPV4 | ENSG00000111199.12 | transcript | ENST00000261740.7 | protein_coding | 2/15 | chr12 | TogoVar | |||||||
TRUB2_chr9_128300159_128327447 | 128326178 | CTTTTAGC others(22): Show |
C | upstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 376 | 0.0027 | -29 | c.-37 others(40): Show |
TRUB2 | ENSG00000167112.10 | transcript | ENST00000372890.6 | protein_coding | 3732 | chr9 | TogoVar | |||||||
TSC2_chr16_2042985_2094491 | 2057776 | GCCCTGCA others(22): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00741.hp2 HG01069.hp2 others(34): Show |
a0001a0004a0007others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0010 a0001c0001t0001g0151 a0001c0001t0001g0165 others(32): Show |
37 | 290 | 0.1276 | -29 | c.849 others(44): Show |
TSC2 | ENSG00000103197.19 | transcript | ENST00000219476.9 | protein_coding | 9/41 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TSHR_chr14_80950621_81151306 | 81002779 | CTCTTTTT others(22): Show |
C | intron_variant | MODIFIER | HG03490.hp2 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0267 | 1 | 268 | 0.0037 | -29 | c.170 others(48): Show |
TSHR | ENSG00000165409.18 | transcript | ENST00000298171.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TSNARE1_chr8_142207080_142408182 | 142282691 | AGAGGCGG others(22): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02145.hp2 HG02257.hp1 others(17): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0023 a0001c0001t0001g0037 a0001c0001t0001g0044 others(17): Show |
20 | 236 | 0.0847 | -29 | c.136 others(48): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 11/13 | chr8 | TogoVar | |||||||
TSNARE1_chr8_142207080_142408182 | 142282982 | AAGGCGGG others(22): Show |
A | intron_variant | MODIFIER | HG00621.hp1 | a0007 | a0007c0007 | a0007c0007t0004 | a0007c0007t0004g0005 | 1 | 236 | 0.0042 | -29 | c.136 others(48): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 11/13 | chr8 | TogoVar | |||||||
TSNARE1_chr8_142207080_142408182 | 142283216 | AGCGGGAT others(22): Show |
A | intron_variant | MODIFIER | HG00733.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0209 | 1 | 216 | 0.0046 | -29 | c.136 others(48): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 11/13 | chr8 | TogoVar | |||||||
TSNARE1_chr8_142207080_142408182 | 142283222 | ATCAGTGT others(22): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0095 | 1 | 140 | 0.0071 | -29 | c.136 others(48): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 11/13 | chr8 | TogoVar | |||||||
TSNARE1_chr8_142207080_142408182 | 142283252 | TCAGTGTC others(22): Show |
T | intron_variant | MODIFIER | NA18612.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0124 | 1 | 236 | 0.0042 | -29 | c.136 others(48): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 11/13 | chr8 | TogoVar | |||||||
TSNARE1_chr8_142207080_142408182 | 142283539 | CAGTGTCT others(22): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02145.hp2 HG02257.hp1 others(21): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0023 a0001c0001t0001g0037 a0001c0001t0001g0044 others(21): Show |
24 | 236 | 0.1017 | -29 | c.136 others(46): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 11/13 | chr8 | TogoVar | |||||||
TSNARE1_chr8_142207080_142408182 | 142283678 | ACCAGTGT others(22): Show |
A | intron_variant | MODIFIER | HG02622.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0150 | 1 | 236 | 0.0042 | -29 | c.136 others(46): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 11/13 | chr8 | TogoVar | |||||||
TSNARE1_chr8_142207080_142408182 | 142338483 | GGACCACT others(22): Show |
G | intron_variant | MODIFIER | HG02723.hp1 | a0009 | a0009c0017 | a0009c0017t0001 | a0009c0017t0001g0060 | 1 | 236 | 0.0042 | -29 | c.745 others(46): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 4/13 | chr8 | TogoVar | |||||||
TSNARE1_chr8_142207080_142408182 | 142391068 | GGGGGACT others(22): Show |
G | intron_variant | MODIFIER | HG01069.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 a0001c0001t0001g0067 |
2 | 233 | 0.0086 | -29 | c.-40 others(48): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 1/13 | chr8 | TogoVar | |||||||
TSPAN18_chr11_44721962_44937423 | 44807208 | AAAAAAAA others(22): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG03704.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0197 a0002c0002t0001g0193 |
2 | 288 | 0.0069 | -29 | c.-15 others(50): Show |
TSPAN18 | ENSG00000157570.12 | transcript | ENST00000520358.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TSPAN18_chr11_44721962_44937423 | 44912878 | ATGTGCCT others(22): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(194): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(103): Show | a0001c0001t0001g0262 a0001c0001t0002g0004 a0001c0001t0002g0005 others(194): Show |
197 | 288 | 0.6840 | -29 | c.258 others(46): Show |
TSPAN18 | ENSG00000157570.12 | transcript | ENST00000520358.7 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TSPAN4_chr11_837852_872111 | 859432 | CCCGGCTC others(22): Show |
C | intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 392 | 0.0026 | -29 | c.64- others(44): Show |
TSPAN4 | ENSG00000214063.12 | transcript | ENST00000397397.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TSPAN9_chr12_3072379_3291559 | 3226765 | TATATATA others(22): Show |
T | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0108 | a0001c0001t0108g0288 | 1 | 285 | 0.0035 | -29 | c.63+ others(46): Show |
TSPAN9 | ENSG00000011105.14 | transcript | ENST00000011898.10 | protein_coding | 3/8 | chr12 | TogoVar | |||||||
TSPAN9_chr12_3072379_3291559 | 3235206 | AAAAAAAA others(22): Show |
A | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0071 | 1 | 284 | 0.0035 | -29 | c.63+ others(46): Show |
TSPAN9 | ENSG00000011105.14 | transcript | ENST00000011898.10 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TSPAN9_chr12_3072379_3291559 | 3235208 | AAAAAAAA others(22): Show |
A | intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0269 | 1 | 283 | 0.0035 | -29 | c.63+ others(46): Show |
TSPAN9 | ENSG00000011105.14 | transcript | ENST00000011898.10 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TSPAN9_chr12_3072379_3291559 | 3235210 | AAAAAAAA others(22): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG02559.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0012a0001c0001t0057 | a0001c0001t0011g0256 a0001c0001t0012g0011 a0001c0001t0057g0075 |
3 | 268 | 0.0112 | -29 | c.63+ others(46): Show |
TSPAN9 | ENSG00000011105.14 | transcript | ENST00000011898.10 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TSPAN9_chr12_3072379_3291559 | 3235214 | AAAAATAT others(22): Show |
A | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0073 | a0001c0001t0073g0007 | 1 | 257 | 0.0039 | -29 | c.63+ others(46): Show |
TSPAN9 | ENSG00000011105.14 | transcript | ENST00000011898.10 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TSPAN9_chr12_3072379_3291559 | 3235216 | AAATATAT others(22): Show |
A | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 HG02559.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0022 | a0001c0001t0002g0261 a0001c0001t0005g0052 a0001c0001t0005g0053 others(1): Show |
4 | 262 | 0.0153 | -29 | c.63+ others(46): Show |
TSPAN9 | ENSG00000011105.14 | transcript | ENST00000011898.10 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TSPAN9_chr12_3072379_3291559 | 3235218 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0259 | 1 | 276 | 0.0036 | -29 | c.63+ others(46): Show |
TSPAN9 | ENSG00000011105.14 | transcript | ENST00000011898.10 | protein_coding | 3/8 | chr12 | TogoVar | |||||||
TSPEAR_chr21_44492893_44716572 | 44503169 | TTGGGTGG others(22): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02647.hp1 HG02809.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007 | a0001c0001t0001g0125 a0001c0001t0001g0291 a0001c0001t0006g0031 others(3): Show |
6 | 291 | 0.0206 | -29 | c.185 others(48): Show |
TSPEAR | ENSG00000175894.18 | transcript | ENST00000323084.9 | protein_coding | 11/11 | chr21 | TogoVar | |||||||
TSPYL2_chrX_53077367_53093540 | 53086647 | CTGTACCC others(22): Show |
C | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 256 | 0.0039 | -29 | c.191 others(46): Show |
TSPYL2 | ENSG00000184205.14 | transcript | ENST00000375442.8 | protein_coding | 6/6 | chrX | TogoVar | |||||||
TSSC4_chr11_2395750_2408876 | 2407078 | CTCGGCCT others(22): Show |
C | downstream_gene_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 434 | 0.0023 | -29 | c.*34 others(40): Show |
TSSC4 | ENSG00000184281.15 | transcript | ENST00000333256.11 | protein_coding | 3203 | chr11 | TogoVar | |||||||
TTC1_chr5_160004139_160070543 | 160019669 | CCTCCGCC others(22): Show |
C | intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 382 | 0.0026 | -29 | c.330 others(46): Show |
TTC1 | ENSG00000113312.12 | transcript | ENST00000231238.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TTC21B_chr2_165868362_165958776 | 165927269 | GTTATATA others(22): Show |
G | intron_variant | MODIFIER | HG02723.hp1 HG02896.hp2 HG03579.hp1 |
a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0276 a0002c0008t0001g0277 a0002c0008t0001g0278 |
3 | 405 | 0.0074 | -29 | c.138 others(48): Show |
TTC21B | ENSG00000123607.16 | transcript | ENST00000243344.8 | protein_coding | 11/28 | chr2 | TogoVar | |||||||
TTC39B_chr9_15158622_15312216 | 15166993 | TATATATA others(22): Show |
T | 3_prime_UTR_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0217 | 1 | 260 | 0.0038 | -29 | c.*49 others(40): Show |
TTC39B | ENSG00000155158.20 | transcript | ENST00000512701.7 | protein_coding | 20/20 | 4997 | chr9 | TogoVar | ||||||
TTC39B_chr9_15158622_15312216 | 15166995 | TATATATA others(22): Show |
T | 3_prime_UTR_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0171 | 1 | 259 | 0.0039 | -29 | c.*49 others(40): Show |
TTC39B | ENSG00000155158.20 | transcript | ENST00000512701.7 | protein_coding | 20/20 | 4995 | chr9 | TogoVar | ||||||
TTC3_chr21_37068254_37208107 | 37176042 | AAGGCACC others(22): Show |
A | intron_variant | MODIFIER | NA18970.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0237 | 1 | 338 | 0.0030 | -29 | c.461 others(48): Show |
TTC3 | ENSG00000182670.14 | transcript | ENST00000418766.6 | protein_coding | 35/45 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
TTC6_chr14_37590629_37847717 | 37651405 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0218 | 1 | 218 | 0.0046 | -29 | c.939 others(48): Show |
TTC6 | ENSG00000139865.17 | transcript | ENST00000553443.6 | protein_coding | 3/32 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TTC6_chr14_37590629_37847717 | 37651407 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG03041.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0215 | 1 | 218 | 0.0046 | -29 | c.939 others(48): Show |
TTC6 | ENSG00000139865.17 | transcript | ENST00000553443.6 | protein_coding | 3/32 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TTC6_chr14_37590629_37847717 | 37812609 | TGCTTTGT others(22): Show |
T | intron_variant | MODIFIER | HG01123.hp2 HG01256.hp2 HG01258.hp1 others(1): Show |
a0010a0015a0021 | a0010c0012a0015c0023a0021c0029 | a0010c0012t0001a0015c0023t0001a0021c0029t0001 | a0010c0012t0001g0121 a0010c0012t0001g0122 a0015c0023t0001g0164 others(1): Show |
4 | 218 | 0.0183 | -29 | c.468 others(46): Show |
TTC6 | ENSG00000139865.17 | transcript | ENST00000553443.6 | protein_coding | 27/32 | chr14 | TogoVar | |||||||
TTC7B_chr14_90519564_90821430 | 90805826 | GAGCCCTG others(22): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG02895.hp2 HG02896.hp1 others(1): Show |
a0001 | a0001c0002a0001c0004a0001c0007 | a0001c0002t0017a0001c0004t0019a0001c0007t0002 | a0001c0002t0017g0085 a0001c0002t0017g0086 a0001c0004t0019g0087 others(1): Show |
4 | 198 | 0.0202 | -29 | c.121 others(48): Show |
TTC7B | ENSG00000165914.15 | transcript | ENST00000328459.11 | protein_coding | 1/19 | chr14 | TogoVar | |||||||
TTLL11_chr9_121810674_122098308 | 122095914 | AAACATAT others(22): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG01168.hp2 HG01169.hp2 others(5): Show |
a0002 | a0002c0003 | a0002c0003t0002a0002c0003t0029a0002c0003t0039 | a0002c0003t0002g0002 a0002c0003t0002g0003 a0002c0003t0002g0006 others(5): Show |
8 | 167 | 0.0479 | -29 | c.-27 others(40): Show |
TTLL11 | ENSG00000175764.17 | transcript | ENST00000321582.11 | protein_coding | 2607 | chr9 | TogoVar | |||||||
TTLL11_chr9_121810674_122098308 | 122095916 | ACATATAT others(22): Show |
A | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG03017.hp2 others(4): Show |
a0002 | a0002c0003a0002c0008 | a0002c0003t0001a0002c0003t0002a0002c0003t0003others(3): Show | a0002c0003t0001g0009 a0002c0003t0002g0013 a0002c0003t0002g0022 others(4): Show |
7 | 142 | 0.0493 | -29 | c.-27 others(40): Show |
TTLL11 | ENSG00000175764.17 | transcript | ENST00000321582.11 | protein_coding | 2609 | chr9 | TogoVar | |||||||
TTLL12_chr22_43161622_43192134 | 43187179 | CGCCCCCC others(22): Show |
C | upstream_gene_variant | MODIFIER | HG02257.hp2 | a0003 | a0003c0007 | a0003c0007t0003 | a0003c0007t0003g0362 | 1 | 375 | 0.0027 | -29 | c.-13 others(38): Show |
TTLL12 | ENSG00000100304.13 | transcript | ENST00000216129.7 | protein_coding | 46 | chr22 | TogoVar | |||||||
TTLL12_chr22_43161622_43192134 | 43187209 | GCCCCCCC others(22): Show |
G | upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0338 | 1 | 302 | 0.0033 | -29 | c.-16 others(38): Show |
TTLL12 | ENSG00000100304.13 | transcript | ENST00000216129.7 | protein_coding | 76 | chr22 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50016485 | CCCACGTG others(22): Show |
C | downstream_gene_variant | MODIFIER | HG03098.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0125 | 1 | 222 | 0.0045 | -29 | c.*22 others(40): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 2089 | chr22 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50016504 | CTGGCAGG others(22): Show |
C | downstream_gene_variant | MODIFIER | HG02258.hp2 HG02630.hp2 HG03130.hp1 others(4): Show |
a0002a0005a0018 | a0002c0002a0005c0005a0018c0017 | a0002c0002t0001a0005c0005t0002a0018c0017t0001 | a0002c0002t0001g0013 a0005c0005t0002g0008 a0005c0005t0002g0198 others(3): Show |
7 | 222 | 0.0315 | -29 | c.*22 others(40): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 2070 | chr22 | TogoVar | |||||||
TTN_chr2_178520989_178812423 | 178699383 | CTTTTTTT others(22): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01099.hp2 HG02683.hp1 others(3): Show |
a0014a0090a0103others(2): Show | a0014c0204a0014c0205a0090c0069others(3): Show | a0014c0204t0001a0014c0205t0001a0090c0069t0002others(3): Show | a0014c0204t0001g0069 a0014c0205t0001g0070 a0090c0069t0002g0109 others(3): Show |
6 | 7 | 0.8571 | -29 | c.306 others(48): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 111/362 | chr2 | TogoVar | |||||||
TTYH2_chr17_74208571_74267020 | 74249847 | CCACTGTG others(22): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(342): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0009a0001c0014others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(304): Show |
345 | 350 | 0.9857 | -29 | c.931 others(42): Show |
TTYH2 | ENSG00000141540.11 | transcript | ENST00000269346.9 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TUBGCP2_chr10_133273635_133313872 | 133291577 | CGGGGAGC others(22): Show |
C | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0055 | 1 | 276 | 0.0036 | -29 | c.121 others(46): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133291912 | ATGTCCCT others(22): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0097 a0001c0001t0009g0125 |
2 | 261 | 0.0077 | -29 | c.121 others(46): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133292056 | ATGTCCCT others(22): Show |
A | intron_variant | MODIFIER | HG02148.hp1 HG02970.hp2 NA18964.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0104 a0001c0002t0003g0061 a0001c0002t0003g0063 |
3 | 273 | 0.0110 | -29 | c.121 others(46): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133292222 | CGGGGAGC others(22): Show |
C | intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0066 | 1 | 282 | 0.0035 | -29 | c.121 others(46): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar |