| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RNF17_chr13_24759169_24884921 | 24881964 | A | ATATAGAT others(296): Show |
downstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 426 | 0.0024 | 303 | c.*22 others(314): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 2044 | chr13 | TogoVar | ||||||
| RNF213_chr17_80255852_80403794 | 80313836 | A | ATGGTGGA others(296): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01069.hp2 HG01071.hp2 others(4): Show |
a0001a0002a0016others(1): Show | a0001c0001a0002c0002a0016c0014others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0004others(3): Show | a0001c0001t0001g0226a0001c0001t0002g0227a0002c0002t0004g0117others(3): Show | 7 | 292 | 0.0240 | 303 | c.281 others(320): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RPH3AL_chr17_207389_357807 | 294836 | A | ACAGAGGG others(296): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02738.hp1 NA18951.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(1): Show | a0001c0001t0002g0028a0001c0001t0003g0098a0001c0001t0012g0006others(1): Show | 4 | 133 | 0.0301 | 303 | c.352 others(322): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 294836 | A | ACAGAGGG others(296): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 133 | 0.0075 | 303 | c.352 others(322): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
| RTEL1_chr20_63653312_63701245 | 63693654 | A | ACCTCCAC others(296): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 60 | 0.0167 | 303 | c.299 others(320): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| RXFP1_chr4_158516882_158658372 | 158628943 | T | TAAGGCCG others(296): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02896.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131a0001c0001t0001g0134a0001c0001t0001g0151 | 3 | 210 | 0.0143 | 303 | c.899 others(318): Show |
RXFP1 | ENSG00000171509.16 | transcript | ENST00000307765.10 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SCG5_chr15_32636710_32702092 | 32662486 | T | TGCTTTTC others(296): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00741.hp1 HG01934.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046a0001c0001t0001g0100a0001c0001t0001g0102others(17): Show | 20 | 415 | 0.0482 | 303 | c.227 others(322): Show |
SCG5 | ENSG00000166922.9 | transcript | ENST00000300175.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| SCNN1D_chr1_1275436_1297025 | 1284171 | G | GGGGGGTT others(296): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 290 | 0.0035 | 303 | c.464 others(316): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SF3A3_chr1_37951975_37995022 | 37967099 | T | TAGAAAAA others(296): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0372 | 1 | 400 | 0.0025 | 303 | c.137 others(320): Show |
SF3A3 | ENSG00000183431.12 | transcript | ENST00000373019.5 | protein_coding | 15/16 | chr1 | TogoVar | ||||||
| SH3BP1_chr22_37634669_37661117 | 37656829 | A | AAATTTTT others(296): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0011 | a0001c0011t0003 | a0001c0011t0003g0128 | 1 | 412 | 0.0024 | 303 | c.*11 others(314): Show |
SH3BP1 | ENSG00000100092.24 | transcript | ENST00000649765.2 | protein_coding | 713 | chr22 | TogoVar | ||||||
| SKI_chr1_2223319_2315213 | 2281984 | A | AGAGATGC others(296): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0101 | 1 | 330 | 0.0030 | 303 | c.970 others(322): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SLC19A1_chr21_45507565_45547440 | 45524406 | T | TGTTCACC others(296): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02630.hp2 HG02897.hp2 others(4): Show |
a0001a0006 | a0001c0004a0006c0009 | a0001c0004t0009a0001c0004t0022a0001c0004t0023others(2): Show | a0001c0004t0009g0264a0001c0004t0009g0265a0001c0004t0009g0266others(4): Show | 7 | 318 | 0.0220 | 303 | c.129 others(322): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 5/5 | chr21 | TogoVar | ||||||
| SLC35F1_chr6_117902264_118322671 | 118304985 | C | CAGTCAAA others(296): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0012a0001c0001t0024 | a0001c0001t0011g0173a0001c0001t0012g0038a0001c0001t0012g0113others(2): Show | 5 | 182 | 0.0275 | 303 | c.100 others(322): Show |
SLC35F1 | ENSG00000196376.11 | transcript | ENST00000360388.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SLC38A7_chr16_58660109_58689770 | 58673093 | T | TTTTTTTT others(296): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 392 | 0.0026 | 303 | c.884 others(318): Show |
SLC38A7 | ENSG00000103042.9 | transcript | ENST00000219320.9 | protein_coding | 8/11 | chr16 | TogoVar | ||||||
| SLC9A3_chr5_465456_529449 | 507665 | T | TCCCCACC others(296): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 218 | 0.0046 | 303 | c.212 others(322): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | ||||||
| SLC9A3_chr5_465456_529449 | 507665 | T | TCCCCACC others(296): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0158 | 1 | 218 | 0.0046 | 303 | c.212 others(322): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | ||||||
| SLCO3A1_chr15_91848708_92170903 | 92029813 | T | TCATACAT others(296): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0131 | 1 | 190 | 0.0053 | 303 | c.647 others(322): Show |
SLCO3A1 | ENSG00000176463.14 | transcript | ENST00000318445.11 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| SMOC2_chr6_168436184_168672992 | 168594809 | C | CCTCCTTC others(296): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 180 | 0.0056 | 303 | c.638 others(320): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SMOC2_chr6_168436184_168672992 | 168594937 | G | GGGCATCT others(296): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0042 | 1 | 180 | 0.0056 | 303 | c.638 others(320): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | chr6 | TogoVar | ||||||
| SNX9_chr6_157818246_157950077 | 157827203 | A | AATATATA others(296): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0057 | 1 | 302 | 0.0033 | 303 | c.12+ others(318): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SNX9_chr6_157818246_157950077 | 157827292 | C | CATATAGT others(296): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 302 | 0.0033 | 303 | c.12+ others(318): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SOCS5_chr2_46694295_46768129 | 46701811 | T | TTTTTTTT others(296): Show |
intron_variant | MODIFIER | HG03486.hp1 NA19082.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0159a0001c0001t0004g0083 | 2 | 380 | 0.0053 | 303 | c.-13 others(320): Show |
SOCS5 | ENSG00000171150.9 | transcript | ENST00000394861.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SORD_chr15_45018195_45082185 | 45072613 | T | TAAAGAAT others(296): Show |
intron_variant | MODIFIER | HG03098.hp1 NA19030.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0076a0002c0002t0002g0243 | 2 | 308 | 0.0065 | 303 | c.908 others(318): Show |
SORD | ENSG00000140263.15 | transcript | ENST00000267814.14 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| SPATA13_chr13_24155720_24312069 | 24190154 | T | TAATGATA others(296): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG02083.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0066a0001c0004t0121 | a0001c0001t0003g0303a0001c0001t0066g0153a0001c0004t0121g0229 | 3 | 356 | 0.0084 | 303 | c.-11 others(324): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| SPATA13_chr13_24155720_24312069 | 24190154 | T | TATAATGA others(296): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0002 | a0001c0002t0129 | a0001c0002t0129g0032 | 1 | 356 | 0.0028 | 303 | c.-11 others(324): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| SPIRE2_chr16_89823475_89876319 | 89843760 | C | CATGATCT others(296): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0337 | 1 | 356 | 0.0028 | 303 | c.245 others(320): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 1/14 | chr16 | TogoVar | ||||||
| SPIRE2_chr16_89823475_89876319 | 89843760 | C | CGTGATCT others(296): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00609.hp1 others(31): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0005c0007others(3): Show | a0001c0001t0003a0002c0002t0002a0005c0007t0002others(3): Show | a0001c0001t0003g0320a0001c0001t0003g0332a0001c0001t0003g0334others(31): Show | 34 | 356 | 0.0955 | 303 | c.245 others(320): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| SPIRE2_chr16_89823475_89876319 | 89843760 | C | CGTGATCT others(296): Show |
intron_variant | MODIFIER | HG03239.hp2 HG03669.hp2 HG03831.hp2 others(3): Show |
a0001 | a0001c0006a0001c0009a0001c0027 | a0001c0006t0001a0001c0009t0001a0001c0027t0001 | a0001c0006t0001g0014a0001c0006t0001g0016a0001c0009t0001g0017others(3): Show | 6 | 356 | 0.0169 | 303 | c.245 others(320): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| SPOCD1_chr1_31785422_31821022 | 31807412 | A | AGGGGAGG others(296): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0092 | 1 | 260 | 0.0039 | 303 | c.138 others(322): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 2/15 | chr1 | TogoVar | ||||||
| SPOCD1_chr1_31785422_31821022 | 31807412 | A | AGGGGAGG others(296): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0112 | 1 | 260 | 0.0039 | 303 | c.138 others(322): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 2/15 | chr1 | TogoVar | ||||||
| SPOCD1_chr1_31785422_31821022 | 31807415 | G | GGAGGGGA others(296): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0091 | 1 | 260 | 0.0039 | 303 | c.138 others(322): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 2/15 | chr1 | TogoVar | ||||||
| SRBD1_chr2_45383680_45616267 | 45586968 | A | ATATTAAA others(296): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 358 | 0.0028 | 303 | c.649 others(320): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 4/20 | chr2 | TogoVar | ||||||
| SRP68_chr17_76033785_76077517 | 76050728 | G | GGGGAGTT others(296): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152 | 1 | 365 | 0.0027 | 303 | c.979 others(318): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 8/15 | chr17 | TogoVar | ||||||
| ST6GALNAC3_chr1_76069746_76639603 | 76390943 | T | TATTTTTT others(296): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0040 | 1 | 102 | 0.0098 | 303 | c.214 others(322): Show |
ST6GALNAC3 | ENSG00000184005.12 | transcript | ENST00000328299.4 | protein_coding | 2/4 | chr1 | TogoVar | ||||||
| SUFU_chr10_102498972_102638535 | 102637656 | G | GATTATAA others(296): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG02886.hp1 HG03041.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0016 | a0001c0001t0001g0177a0001c0001t0001g0186a0001c0001t0001g0203others(3): Show | 6 | 268 | 0.0224 | 303 | c.*75 others(314): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 4122 | chr10 | TogoVar | ||||||
| SUZ12_chr17_31932007_32006038 | 31957709 | C | CCAGTTTT others(296): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0011 | a0001c0001t0006g0015a0001c0001t0011g0017 | 2 | 280 | 0.0071 | 303 | c.456 others(320): Show |
SUZ12 | ENSG00000178691.11 | transcript | ENST00000322652.10 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SYTL3_chr6_158645054_158769871 | 158701191 | G | GATGAAGG others(296): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 292 | 0.0034 | 303 | c.395 others(320): Show |
SYTL3 | ENSG00000164674.17 | transcript | ENST00000611299.5 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| TAFA5_chr22_48484553_48756932 | 48736154 | T | TAGAGTCC others(296): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02258.hp1 HG02723.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0257a0001c0001t0002g0047a0001c0001t0002g0075others(3): Show | 6 | 258 | 0.0233 | 303 | c.391 others(322): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| TBCE_chr1_235362427_235457443 | 235412182 | C | CCCCATCC others(296): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 268 | 0.0037 | 303 | c.186 others(320): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| TBCE_chr1_235362427_235457443 | 235412182 | C | CCCCATCC others(296): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 268 | 0.0037 | 303 | c.186 others(320): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| TCF3_chr19_1604292_1657615 | 1628124 | A | ATGAGGCG others(296): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0003 | a0003c0006 | a0003c0006t0035 | a0003c0006t0035g0345 | 1 | 352 | 0.0028 | 303 | c.299 others(318): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
| TCF3_chr19_1604292_1657615 | 1628871 | C | CGGGGTGA others(296): Show |
intron_variant | MODIFIER | HG02083.hp1 HG03834.hp2 NA18944.hp2 |
a0001a0002 | a0001c0005a0002c0001 | a0001c0005t0009a0002c0001t0006a0002c0001t0007 | a0001c0005t0009g0029a0002c0001t0006g0055a0002c0001t0007g0062 | 3 | 352 | 0.0085 | 303 | c.299 others(320): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
| TERT_chr5_1248167_1300068 | 1272821 | A | ACATCAGA others(296): Show |
intron_variant | MODIFIER | NA18971.hp1 NA18985.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0339a0001c0003t0001g0260 | 2 | 392 | 0.0051 | 303 | c.228 others(320): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
| TERT_chr5_1248167_1300068 | 1272966 | A | ACATCAGA others(296): Show |
intron_variant | MODIFIER | NA18966.hp1 NA19068.hp1 NA19076.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265a0001c0001t0001g0266a0001c0001t0001g0377 | 3 | 392 | 0.0077 | 303 | c.228 others(320): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
| THBS3_chr1_155190588_155212897 | 155190623 | G | GTCCGGGG others(296): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 298 | 0.0034 | 303 | c.*52 others(314): Show |
THBS3 | ENSG00000169231.13 | transcript | ENST00000368378.7 | protein_coding | 4964 | chr1 | TogoVar | ||||||
| TMEM106B_chr7_12206294_12248367 | 12208349 | G | GGAAATAT others(296): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0102 | a0001c0001t0102g0120 | 1 | 398 | 0.0025 | 303 | c.-30 others(314): Show |
TMEM106B | ENSG00000106460.20 | transcript | ENST00000396668.8 | protein_coding | 2944 | chr7 | TogoVar | ||||||
| TMEM132D_chr12_129066726_129909025 | 129190421 | G | GAGTCTCA others(296): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0005 | 1 | 94 | 0.0106 | 303 | c.144 others(324): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 5/8 | chr12 | TogoVar | ||||||
| TMEM51_chr1_15148747_15225478 | 15170144 | C | CTGTCATA others(296): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0007 | a0001c0007t0028 | a0001c0007t0028g0191 | 1 | 298 | 0.0034 | 303 | c.-26 others(324): Show |
TMEM51 | ENSG00000171729.14 | transcript | ENST00000376008.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| TMEM65_chr8_124301189_124377701 | 124302741 | T | TTATATAT others(296): Show |
downstream_gene_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 | 2 | 348 | 0.0058 | 303 | c.*11 others(316): Show |
TMEM65 | ENSG00000164983.9 | transcript | ENST00000297632.8 | protein_coding | 3447 | chr8 | TogoVar | ||||||
| TNFRSF6B_chr20_63691652_63703684 | 63693654 | A | ACCTCCAC others(296): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 33 | 0.0303 | 303 | c.-31 others(314): Show |
TNFRSF6B | ENSG00000243509.6 | transcript | ENST00000369996.3 | protein_coding | 2997 | chr20 | TogoVar |