| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| FURIN_chr15_90863588_90888457 | 90871538 | G | GCGGCGGG others(340): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0032 | 2 | 360 | 0.0056 | 347 | c.-16 others(366): Show |
FURIN | ENSG00000140564.13 | transcript | ENST00000268171.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| FURIN_chr15_90863588_90888457 | 90871538 | G | GCGGCGGG others(340): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02723.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0002 | a0001c0001t0003g0085a0001c0004t0002g0086 | 2 | 360 | 0.0056 | 347 | c.-16 others(366): Show |
FURIN | ENSG00000140564.13 | transcript | ENST00000268171.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| FURIN_chr15_90863588_90888457 | 90871538 | G | GCGGCGGG others(340): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0092 | 1 | 360 | 0.0028 | 347 | c.-16 others(366): Show |
FURIN | ENSG00000140564.13 | transcript | ENST00000268171.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| FURIN_chr15_90863588_90888457 | 90871538 | G | GCGGCGGG others(340): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0048 | 1 | 360 | 0.0028 | 347 | c.-16 others(366): Show |
FURIN | ENSG00000140564.13 | transcript | ENST00000268171.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| FURIN_chr15_90863588_90888457 | 90871538 | G | GCGGCGGG others(340): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(336): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0001a0001c0001t0001g0044a0001c0001t0001g0052others(116): Show | 339 | 360 | 0.9417 | 347 | c.-16 others(366): Show |
FURIN | ENSG00000140564.13 | transcript | ENST00000268171.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| FURIN_chr15_90863588_90888457 | 90871538 | G | GCGGCGGG others(340): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0108 | 1 | 360 | 0.0028 | 347 | c.-16 others(366): Show |
FURIN | ENSG00000140564.13 | transcript | ENST00000268171.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| FURIN_chr15_90863588_90888457 | 90871538 | G | GCGGCGGG others(340): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0089 | 1 | 360 | 0.0028 | 347 | c.-16 others(366): Show |
FURIN | ENSG00000140564.13 | transcript | ENST00000268171.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| GAK_chr4_844277_937316 | 926958 | T | TCCCCGCT others(340): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0006 | a0006c0013 | a0006c0013t0001 | a0006c0013t0001g0266 | 1 | 390 | 0.0026 | 347 | c.145 others(364): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 1/27 | chr4 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241807609 | C | CCTCCCCC others(340): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 314 | 0.0032 | 347 | c.*34 others(358): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3323 | chr2 | TogoVar | ||||||
| GALNT17_chr7_71127144_71718599 | 71272976 | C | CACGATCA others(340): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0017 | 1 | 76 | 0.0132 | 347 | c.239 others(366): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| GHR_chr5_42418439_42726878 | 42625748 | T | TAAGATAT others(340): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0187 | 1 | 210 | 0.0048 | 347 | c.71- others(362): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| GLIS3_chr9_3819127_4305068 | 3876693 | G | GGGAGGAA others(340): Show |
intron_variant | MODIFIER | HG03139.hp2 NA19085.hp1 |
a0001a0012 | a0001c0001a0012c0029 | a0001c0001t0001a0012c0029t0001 | a0001c0001t0001g0141a0012c0029t0001g0175 | 2 | 188 | 0.0106 | 347 | c.229 others(366): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 8/10 | chr9 | TogoVar | ||||||
| GNA14_chr9_77418079_77653322 | 77475028 | T | TCCAGTGT others(340): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03579.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0002t0001 | a0001c0001t0013g0138a0001c0002t0001g0137 | 2 | 240 | 0.0083 | 347 | c.310 others(366): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 2/6 | chr9 | TogoVar | ||||||
| GPC5_chr13_91393621_92872237 | 92172973 | T | TAAGAAAC others(340): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0017 | 1 | 42 | 0.0238 | 347 | c.156 others(368): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| GPR158_chr10_25170001_25607229 | 25198985 | T | TAAAATAT others(340): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0141 | 1 | 162 | 0.0062 | 347 | c.903 others(366): Show |
GPR158 | ENSG00000151025.11 | transcript | ENST00000376351.4 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| GPR174_chrX_79139688_79180318 | 79160132 | T | TCAAGAAA others(340): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0002 | a0002c0002t0020 | a0002c0002t0020g0049 | 1 | 315 | 0.0032 | 347 | c.-55 others(366): Show |
GPR174 | ENSG00000147138.3 | transcript | ENST00000645147.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| GRB7_chr17_39732938_39752285 | 39735372 | T | TTTTTTTT others(340): Show |
upstream_gene_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 386 | 0.0026 | 347 | c.-28 others(358): Show |
GRB7 | ENSG00000141738.14 | transcript | ENST00000309156.9 | protein_coding | 2565 | chr17 | TogoVar | ||||||
| GRM1_chr6_146024062_146442601 | 146369544 | T | TTTAAATT others(340): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0151 | 1 | 158 | 0.0063 | 347 | c.160 others(368): Show |
GRM1 | ENSG00000152822.15 | transcript | ENST00000282753.6 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| GRM5_chr11_88499642_89070982 | 88634389 | T | TAAAACAC others(340): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0064 | 1 | 184 | 0.0054 | 347 | c.114 others(368): Show |
GRM5 | ENSG00000168959.15 | transcript | ENST00000305447.5 | protein_coding | 4/9 | chr11 | TogoVar | ||||||
| GRM7_chr3_6856115_7746533 | 7091701 | T | TAAATAAC others(340): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0069 | 1 | 80 | 0.0125 | 347 | c.520 others(366): Show |
GRM7 | ENSG00000196277.17 | transcript | ENST00000357716.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| GRTP1_chr13_113319163_113369130 | 113364444 | A | AGGAGGGG others(340): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 288 | 0.0035 | 347 | c.-39 others(356): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 315 | chr13 | TogoVar | ||||||
| GTDC1_chr2_143933068_144337512 | 144188025 | C | CAAGAAGC others(340): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0003 | a0001c0003t0046 | a0001c0003t0046g0109 | 1 | 124 | 0.0081 | 347 | c.179 others(366): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | TogoVar | ||||||
| HMOX1_chr22_35376096_35399207 | 35397411 | A | ATAGAGGT others(340): Show |
downstream_gene_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0330 | 1 | 384 | 0.0026 | 347 | c.*38 others(358): Show |
HMOX1 | ENSG00000100292.18 | transcript | ENST00000216117.9 | protein_coding | 3205 | chr22 | TogoVar | ||||||
| HNRNPDL_chr4_82417569_82435462 | 82419529 | T | TAAAGATT others(340): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG03669.hp1 HG04184.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0039 | a0001c0001t0001g0001a0001c0001t0001g0039a0001c0001t0039g0063 | 4 | 348 | 0.0115 | 347 | c.*53 others(358): Show |
HNRNPDL | ENSG00000152795.18 | transcript | ENST00000295470.10 | protein_coding | 3039 | chr4 | TogoVar | ||||||
| HS3ST3A1_chr17_13489032_13606929 | 13605039 | T | TGCACAGC others(340): Show |
upstream_gene_variant | MODIFIER | NA19054.hp1 | a0002 | a0002c0004 | a0002c0004t0012 | a0002c0004t0012g0276 | 1 | 338 | 0.0030 | 347 | c.-39 others(358): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 3111 | chr17 | TogoVar | ||||||
| IDE_chr10_92446684_92579093 | 92524325 | T | TATTATAT others(340): Show |
intron_variant | MODIFIER | NA18981.hp2 NA19009.hp2 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0258a0001c0001t0002g0264a0001c0001t0002g0312 | 3 | 314 | 0.0096 | 347 | c.661 others(364): Show |
IDE | ENSG00000119912.18 | transcript | ENST00000265986.11 | protein_coding | 4/24 | chr10 | TogoVar | ||||||
| IFNA4_chr9_21181618_21192587 | 21188743 | T | TAGAAAAT others(340): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0000 | 1 | 428 | 0.0023 | 347 | c.-12 others(358): Show |
IFNA4 | ENSG00000236637.5 | transcript | ENST00000421715.3 | protein_coding | 1157 | chr9 | TogoVar | ||||||
| IKZF2_chr2_212994698_213156612 | 213112342 | T | TAAAAAAT others(340): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0237 | 1 | 254 | 0.0039 | 347 | c.139 others(366): Show |
IKZF2 | ENSG00000030419.17 | transcript | ENST00000434687.6 | protein_coding | 4/8 | chr2 | TogoVar | ||||||
| INO80_chr15_40973880_41121280 | 41031545 | A | AGGAAGGG others(340): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03195.hp1 HG03209.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010 | a0001c0001t0003g0063a0001c0001t0003g0064a0001c0001t0003g0066others(2): Show | 5 | 282 | 0.0177 | 347 | c.290 others(366): Show |
INO80 | ENSG00000128908.19 | transcript | ENST00000648947.1 | protein_coding | 24/35 | chr15 | TogoVar | ||||||
| INO80_chr15_40973880_41121280 | 41031545 | A | AGGAAGGG others(340): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0159 | 1 | 282 | 0.0036 | 347 | c.290 others(366): Show |
INO80 | ENSG00000128908.19 | transcript | ENST00000648947.1 | protein_coding | 24/35 | chr15 | TogoVar | ||||||
| INO80_chr15_40973880_41121280 | 41031547 | G | GAAGGGAG others(340): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0047 | 1 | 282 | 0.0036 | 347 | c.290 others(366): Show |
INO80 | ENSG00000128908.19 | transcript | ENST00000648947.1 | protein_coding | 24/35 | chr15 | TogoVar | ||||||
| INPP5D_chr2_233055342_233212903 | 233144378 | T | TCATGATC others(340): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01099.hp2 HG02602.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0005t0005others(1): Show | a0001c0001t0001g0105a0001c0001t0002g0173a0001c0005t0005g0231others(1): Show | 4 | 310 | 0.0129 | 347 | c.754 others(364): Show |
INPP5D | ENSG00000168918.14 | transcript | ENST00000445964.6 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| INPP5D_chr2_233055342_233212903 | 233144387 | C | CGGTGGGA others(340): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0174 | 1 | 310 | 0.0032 | 347 | c.754 others(364): Show |
INPP5D | ENSG00000168918.14 | transcript | ENST00000445964.6 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| IPP_chr1_45693711_45755653 | 45735955 | C | CAAAAAAT others(340): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 128 | 0.0078 | 347 | c.724 others(364): Show |
IPP | ENSG00000197429.11 | transcript | ENST00000396478.4 | protein_coding | 3/8 | chr1 | TogoVar | ||||||
| IQCH_chr15_67249786_67506804 | 67352556 | T | TGAAAGTT others(340): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 276 | 0.0036 | 347 | c.638 others(364): Show |
IQCH | ENSG00000103599.20 | transcript | ENST00000335894.9 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| IRF2_chr4_184382729_184479550 | 184422042 | C | CAAAACAG others(340): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0237 | 1 | 376 | 0.0027 | 347 | c.88- others(362): Show |
IRF2 | ENSG00000168310.12 | transcript | ENST00000393593.8 | protein_coding | 2/8 | chr4 | TogoVar | ||||||
| ISYNA1_chr19_18429388_18443133 | 18442447 | C | CTGCATAT others(340): Show |
upstream_gene_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 308 | 0.0033 | 347 | c.-43 others(358): Show |
ISYNA1 | ENSG00000105655.19 | transcript | ENST00000338128.13 | protein_coding | 4315 | chr19 | TogoVar | ||||||
| JAK1_chr1_64828229_64971549 | 64881262 | T | TAAAAAAT others(340): Show |
intron_variant | MODIFIER | HG02165.hp1 HG03017.hp1 NA18983.hp1 |
a0001a0003 | a0001c0003a0003c0013 | a0001c0003t0001a0003c0013t0001 | a0001c0003t0001g0240a0001c0003t0001g0252a0003c0013t0001g0253 | 3 | 326 | 0.0092 | 347 | c.205 others(364): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 3/24 | chr1 | TogoVar | ||||||
| KATNAL1_chr13_30197630_30312551 | 30223250 | T | CAACACGG others(340): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0140 | a0001c0001t0140g0155 | 1 | 386 | 0.0026 | 347 | c.114 others(366): Show |
KATNAL1 | ENSG00000102781.14 | transcript | ENST00000380615.8 | protein_coding | 9/10 | chr13 | TogoVar | ||||||
| KLHL2_chr4_165202561_165328147 | 165269621 | T | TAAGAATG others(340): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010 | 1 | 254 | 0.0039 | 347 | c.544 others(364): Show |
KLHL2 | ENSG00000109466.14 | transcript | ENST00000226725.11 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| LAMA5_chr20_62304065_62372312 | 62349677 | A | ATGGGGGT others(340): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0003 | a0003c0062 | a0003c0062t0001 | a0003c0062t0001g0049 | 1 | 186 | 0.0054 | 347 | c.956 others(364): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | ||||||
| LARP6_chr15_70824130_70859157 | 70829745 | T | TCAGGGTT others(340): Show |
3_prime_UTR_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0160 | 1 | 392 | 0.0026 | 347 | c.*23 others(358): Show |
LARP6 | ENSG00000166173.11 | transcript | ENST00000299213.10 | protein_coding | 3/3 | 2306 | chr15 | TogoVar | |||||
| LHPP_chr10_124456823_124619141 | 124610869 | A | AGGGTGCT others(340): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 260 | 0.0039 | 347 | c.717 others(364): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LMF1_chr16_848634_975984 | 858987 | G | GAGTGGTG others(340): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02896.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0048a0001c0002t0001g0049 | 2 | 294 | 0.0068 | 347 | c.153 others(366): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
| LNPEP_chr5_96931080_97042513 | 96955841 | T | TAAGTTTT others(340): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 352 | 0.0028 | 347 | c.19+ others(364): Show |
LNPEP | ENSG00000113441.16 | transcript | ENST00000231368.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| LRRC24_chr8_144517388_144532033 | 144531253 | G | GCAGCAGG others(340): Show |
upstream_gene_variant | MODIFIER | HG02004.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 398 | 0.0025 | 347 | c.-43 others(358): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4221 | chr8 | TogoVar | ||||||
| LURAP1_chr1_46198334_46226256 | 46213358 | A | AAAGTATA others(340): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02071.hp2 HG02486.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035a0001c0001t0001g0059a0001c0001t0001g0060others(4): Show | 8 | 356 | 0.0225 | 347 | c.199 others(364): Show |
LURAP1 | ENSG00000171357.6 | transcript | ENST00000371980.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| MAN2B2_chr4_6570189_6628362 | 6579126 | C | CCACCACC others(340): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0257 | 1 | 362 | 0.0028 | 347 | c.391 others(362): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MAN2B2_chr4_6570189_6628362 | 6579126 | C | CCACCACC others(340): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0002 | a0002c0004 | a0002c0004t0031 | a0002c0004t0031g0260 | 1 | 362 | 0.0028 | 347 | c.391 others(362): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MAN2B2_chr4_6570189_6628362 | 6579126 | C | CCACCACC others(340): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0293 | 1 | 362 | 0.0028 | 347 | c.391 others(362): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |