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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RSPH1_chr21_42467486_42501224 | 42477245 | C | CACACCCT others(294): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0320 | 1 | 153 | 0.0065 | 301 | c.727 others(314): Show |
RSPH1 | ENSG00000160188.10 | transcript | ENST00000291536.8 | protein_coding | 7/8 | chr21 | TogoVar | |||||||
RUFY1_chr5_179545554_179615012 | 179550512 | T | TGCCCGCC others(294): Show |
upstream_gene_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0229 | 1 | 219 | 0.0046 | 301 | c.-58 others(308): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 41 | chr5 | TogoVar | |||||||
RXFP1_chr4_158516882_158658372 | 158628943 | T | TAAGGCCG others(294): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 148 | 0.0068 | 301 | c.899 others(316): Show |
RXFP1 | ENSG00000171509.16 | transcript | ENST00000307765.10 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SAPCD2_chr9_137057127_137075557 | 137072796 | C | CGCCTGTA others(294): Show |
upstream_gene_variant | MODIFIER | NA19007.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 412 | 0.0024 | 301 | c.-23 others(312): Show |
SAPCD2 | ENSG00000186193.9 | transcript | ENST00000409687.5 | protein_coding | 2240 | chr9 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1156927 | C | CAGGACCC others(294): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 148 | 0.0068 | 301 | c.-12 others(320): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1156927 | C | CAGGACCC others(294): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01099.hp1 HG01255.hp1 others(5): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(2): Show | a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0002t0001g0018 others(5): Show |
8 | 155 | 0.0516 | 301 | c.-12 others(320): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SCNN1D_chr1_1275436_1297025 | 1284181 | G | GTGAGGGG others(294): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0068 | 1 | 288 | 0.0035 | 301 | c.464 others(314): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | chr1 | TogoVar | |||||||
SEC16B_chr1_177923788_177975058 | 177955137 | T | TAAAAAAT others(294): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0016 | a0016c0024 | a0016c0024t0010 | a0016c0024t0010g0057 | 1 | 403 | 0.0025 | 301 | c.136 others(318): Show |
SEC16B | ENSG00000120341.19 | transcript | ENST00000308284.11 | protein_coding | 10/25 | chr1 | TogoVar | |||||||
SH3BP1_chr22_37634669_37661117 | 37656829 | A | AAATTTTT others(294): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 NA19240.hp2 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0002a0001c0016t0002 | a0001c0001t0002g0028 a0001c0016t0002g0124 |
2 | 407 | 0.0049 | 301 | c.*11 others(312): Show |
SH3BP1 | ENSG00000100092.24 | transcript | ENST00000649765.2 | protein_coding | 713 | chr22 | TogoVar | |||||||
SHISA9_chr16_12896598_13245416 | 13015951 | T | TTTCCCTT others(294): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0053 | 1 | 76 | 0.0132 | 301 | c.691 others(320): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2281653 | A | AGACAGGC others(294): Show |
intron_variant | MODIFIER | HG02004.hp2 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0028 |
2 | 317 | 0.0063 | 301 | c.970 others(320): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC22A18_chr11_2897278_2930246 | 2921552 | A | AAGCCTGT others(294): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 81 | 0.0123 | 301 | c.865 others(316): Show |
SLC22A18 | ENSG00000110628.16 | transcript | ENST00000649076.2 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SLC22A18_chr11_2897278_2930246 | 2921552 | A | AAGCCTGT others(294): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0136 | 1 | 81 | 0.0123 | 301 | c.865 others(316): Show |
SLC22A18 | ENSG00000110628.16 | transcript | ENST00000649076.2 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SLC22A18_chr11_2897278_2930246 | 2921552 | A | AAGCCTGT others(294): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 81 | 0.0123 | 301 | c.865 others(316): Show |
SLC22A18 | ENSG00000110628.16 | transcript | ENST00000649076.2 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SLC35F1_chr6_117902264_118322671 | 118071064 | G | GTATATAT others(294): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02559.hp2 HG02818.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0015others(1): Show | a0001c0001t0001g0035 a0001c0001t0001g0047 a0001c0001t0008g0010 others(4): Show |
7 | 58 | 0.1207 | 301 | c.174 others(320): Show |
SLC35F1 | ENSG00000196376.11 | transcript | ENST00000360388.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SOCS5_chr2_46694295_46768129 | 46701811 | T | TTTTTTTT others(294): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03130.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0022 a0001c0001t0008g0151 |
3 | 131 | 0.0229 | 301 | c.-13 others(318): Show |
SOCS5 | ENSG00000171150.9 | transcript | ENST00000394861.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SOCS5_chr2_46694295_46768129 | 46701811 | T | TTTTTTTT others(294): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0154 | 1 | 129 | 0.0078 | 301 | c.-13 others(318): Show |
SOCS5 | ENSG00000171150.9 | transcript | ENST00000394861.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24190020 | C | CATATAAT others(294): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00639.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0001 | a0001c0001t0002g0164 a0001c0004t0001g0045 |
2 | 112 | 0.0179 | 301 | c.-11 others(322): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24190154 | T | TAATGATA others(294): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0006 | a0001c0006t0039 | a0001c0006t0039g0187 | 1 | 54 | 0.0185 | 301 | c.-11 others(322): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89843760 | C | CGTGATCT others(294): Show |
intron_variant | MODIFIER | HG03195.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0342 a0001c0001t0003g0343 |
2 | 178 | 0.0112 | 301 | c.245 others(318): 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(294): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0114 | 1 | 6 | 0.1667 | 301 | c.138 others(320): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 2/15 | chr1 | TogoVar | |||||||
SS18L1_chr20_62138769_62187514 | 62166667 | A | ATAATCCC others(294): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0228 | 1 | 229 | 0.0044 | 301 | c.916 others(318): Show |
SS18L1 | ENSG00000184402.15 | transcript | ENST00000331758.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SS18L1_chr20_62138769_62187514 | 62166667 | A | ATAATCCC others(294): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02257.hp1 HG02280.hp2 others(8): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0006others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(4): Show | a0001c0001t0002g0280 a0001c0001t0003g0022 a0001c0001t0003g0023 others(8): Show |
11 | 239 | 0.0460 | 301 | c.916 others(318): Show |
SS18L1 | ENSG00000184402.15 | transcript | ENST00000331758.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ST6GALNAC3_chr1_76069746_76639603 | 76390943 | T | TGTATTTT others(294): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0035 | 1 | 85 | 0.0118 | 301 | c.214 others(320): Show |
ST6GALNAC3 | ENSG00000184005.12 | transcript | ENST00000328299.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
STK32A_chr5_147230026_147392855 | 147258153 | T | TAACCTTT others(294): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0070 a0001c0001t0002g0069 |
2 | 235 | 0.0085 | 301 | c.52+ others(318): Show |
STK32A | ENSG00000169302.16 | transcript | ENST00000397936.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102637656 | G | GATTATAA others(294): Show |
downstream_gene_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0059 | 1 | 9 | 0.1111 | 301 | c.*75 others(312): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 4122 | chr10 | TogoVar | |||||||
SYK_chr9_90796819_90903549 | 90884880 | T | TGTGTGTA others(294): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03834.hp1 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0044 a0001c0001t0003g0272 a0001c0001t0003g0325 |
3 | 222 | 0.0135 | 301 | c.158 others(320): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 11/13 | chr9 | TogoVar | |||||||
SYK_chr9_90796819_90903549 | 90884884 | T | TATATACA others(294): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG03492.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0072 | a0001c0001t0001g0097 a0001c0001t0001g0109 a0001c0001t0001g0263 others(4): Show |
7 | 36 | 0.1944 | 301 | c.158 others(320): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48620783 | C | CATCCTAT others(294): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00639.hp2 others(24): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0097 a0001c0001t0001g0134 a0001c0001t0001g0256 others(24): Show |
27 | 213 | 0.1268 | 301 | c.113 others(320): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235412166 | C | CCCTCCCC others(294): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 165 | 0.0061 | 301 | c.186 others(318): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1627913 | G | GGGGGTGA others(294): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03041.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005 | a0001c0002t0001g0178 a0001c0002t0005g0327 |
2 | 314 | 0.0064 | 301 | c.299 others(316): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TCF3_chr19_1604292_1657615 | 1627946 | C | CGGGGGTG others(294): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0002 | a0002c0001 | a0002c0001t0014 | a0002c0001t0014g0155 | 1 | 250 | 0.0040 | 301 | c.299 others(316): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TCF3_chr19_1604292_1657615 | 1627946 | C | CGGGGGTG others(294): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0002 | a0002c0001 | a0002c0001t0019 | a0002c0001t0019g0084 | 1 | 250 | 0.0040 | 301 | c.299 others(316): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TCF3_chr19_1604292_1657615 | 1628664 | A | ACGGGGAT others(294): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0011 | a0011c0027 | a0011c0027t0004 | a0011c0027t0004g0020 | 1 | 333 | 0.0030 | 301 | c.299 others(318): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TCF3_chr19_1604292_1657615 | 1628712 | C | CGGGAAAG others(294): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0106 | 1 | 324 | 0.0031 | 301 | c.299 others(318): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TEX29_chr13_111315642_111349248 | 111341164 | A | AATCATAA others(294): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 392 | 0.0026 | 301 | c.239 others(318): Show |
TEX29 | ENSG00000153495.11 | transcript | ENST00000283547.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TEX29_chr13_111315642_111349248 | 111341207 | C | CATCATAA others(294): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 282 | 0.0035 | 301 | c.240 others(318): Show |
TEX29 | ENSG00000153495.11 | transcript | ENST00000283547.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
THBS3_chr1_155190588_155212897 | 155191012 | G | GTCCGGGG others(294): Show |
downstream_gene_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 280 | 0.0036 | 301 | c.*48 others(312): Show |
THBS3 | ENSG00000169231.13 | transcript | ENST00000368378.7 | protein_coding | 4575 | chr1 | TogoVar | |||||||
THBS3_chr1_155190588_155212897 | 155191039 | T | TGGGGGGG others(294): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 279 | 0.0036 | 301 | c.*48 others(312): Show |
THBS3 | ENSG00000169231.13 | transcript | ENST00000368378.7 | protein_coding | 4548 | chr1 | TogoVar | |||||||
THBS3_chr1_155190588_155212897 | 155191099 | T | TGGGGGGG others(294): Show |
downstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 282 | 0.0035 | 301 | c.*47 others(312): Show |
THBS3 | ENSG00000169231.13 | transcript | ENST00000368378.7 | protein_coding | 4488 | chr1 | TogoVar | |||||||
THBS3_chr1_155190588_155212897 | 155191105 | C | CGCGGTGG others(294): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0022 | 1 | 192 | 0.0052 | 301 | c.*47 others(312): Show |
THBS3 | ENSG00000169231.13 | transcript | ENST00000368378.7 | protein_coding | 4482 | chr1 | TogoVar | |||||||
THBS3_chr1_155190588_155212897 | 155191159 | T | TGGGGGGG others(294): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 268 | 0.0037 | 301 | c.*46 others(312): Show |
THBS3 | ENSG00000169231.13 | transcript | ENST00000368378.7 | protein_coding | 4428 | chr1 | TogoVar | |||||||
TMEM132D_chr12_129066726_129909025 | 129089176 | A | ATGACCGG others(294): Show |
intron_variant | MODIFIER | HG03834.hp2 HG04204.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 a0001c0001t0002g0037 a0001c0001t0002g0078 |
3 | 83 | 0.0361 | 301 | c.144 others(320): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 5/8 | chr12 | TogoVar | |||||||
TMEM132D_chr12_129066726_129909025 | 129089176 | A | ATGACCGG others(294): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 81 | 0.0123 | 301 | c.144 others(320): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 5/8 | chr12 | TogoVar | |||||||
TMPRSS2_chr21_41459305_41513158 | 41474577 | G | GAGTGAGT others(294): Show |
intron_variant | MODIFIER | HG00621.hp1 NA18994.hp2 NA19065.hp2 |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0105 a0002c0003t0004g0287 a0002c0003t0004g0307 |
3 | 322 | 0.0093 | 301 | c.728 others(318): Show |
TMPRSS2 | ENSG00000184012.14 | transcript | ENST00000332149.10 | protein_coding | 8/13 | chr21 | TogoVar | |||||||
TMPRSS9_chr19_2355265_2431261 | 2418776 | C | CCTCCCTT others(294): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0005 | a0005c0028 | a0005c0028t0002 | a0005c0028t0002g0065 | 1 | 56 | 0.0179 | 301 | c.215 others(318): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2419018 | C | CCCTCCCT others(294): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0006 | a0006c0008 | a0006c0008t0003 | a0006c0008t0003g0015 | 1 | 3 | 0.3333 | 301 | c.215 others(318): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TNPO3_chr7_128949185_129060111 | 129059138 | T | TATTTTTA others(294): Show |
upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0180 | 1 | 333 | 0.0030 | 301 | c.-43 others(312): Show |
TNPO3 | ENSG00000064419.14 | transcript | ENST00000265388.10 | protein_coding | 4028 | chr7 | TogoVar | |||||||
TRIM46_chr1_155168849_155189970 | 155189932 | T | TGGGGGGG others(294): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 303 | 0.0033 | 301 | c.*57 others(312): Show |
TRIM46 | ENSG00000163462.19 | transcript | ENST00000334634.9 | protein_coding | 4963 | chr1 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23042106 | C | CTGGGGGT others(294): Show |
upstream_gene_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 1 | 322 | 0.0031 | 301 | c.-25 others(312): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 2538 | chr15 | TogoVar |