| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| VASH2_chr1_212945541_212996585 | 212970529 | A | ACCATTTT others(338): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0124 | 1 | 378 | 0.0027 | 345 | c.498 others(362): Show |
VASH2 | ENSG00000143494.16 | transcript | ENST00000517399.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| VAV3_chr1_107566161_107970180 | 107884001 | T | TCATCTAT others(338): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 | 1 | 210 | 0.0048 | 345 | c.205 others(362): Show |
VAV3 | ENSG00000134215.16 | transcript | ENST00000370056.9 | protein_coding | 1/26 | chr1 | TogoVar | ||||||
| VCX_chrX_7838171_7849143 | 7844275 | A | AGGGAGGG others(338): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0001 | 1 | 341 | 0.0029 | 345 | c.*25 others(354): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 133 | chrX | TogoVar | ||||||
| VTA1_chr6_142142263_142229685 | 142204886 | A | AGCAAATT others(338): Show |
intron_variant | MODIFIER | HG03453.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0048 | a0001c0001t0019g0018a0001c0001t0048g0019 | 2 | 334 | 0.0060 | 345 | c.778 others(360): Show |
VTA1 | ENSG00000009844.16 | transcript | ENST00000367630.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| VTA1_chr6_142142263_142229685 | 142204886 | A | AGCAAATT others(338): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0016 | 1 | 334 | 0.0030 | 345 | c.778 others(360): Show |
VTA1 | ENSG00000009844.16 | transcript | ENST00000367630.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| WDR76_chr15_43822002_43873412 | 43827937 | T | TTCTGTTT others(338): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0187 | 1 | 306 | 0.0033 | 345 | c.61- others(356): Show |
WDR76 | ENSG00000092470.12 | transcript | ENST00000263795.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| WDR7_chr18_56646359_57034792 | 57024796 | T | TATCCCTA others(338): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0060 | 1 | 144 | 0.0069 | 345 | c.427 others(364): Show |
WDR7 | ENSG00000091157.15 | transcript | ENST00000254442.8 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| WWP2_chr16_69757332_69946739 | 69791969 | T | TCATTATA others(338): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0011 | a0001c0011t0005 | a0001c0011t0005g0305 | 1 | 314 | 0.0032 | 345 | c.70+ others(360): Show |
WWP2 | ENSG00000198373.13 | transcript | ENST00000359154.7 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| XG_chrX_2747040_2821500 | 2774330 | G | GAAAGAAA others(338): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02559.hp2 HG02970.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0020a0001c0002t0005 | a0001c0001t0001g0134a0001c0001t0020g0138a0001c0002t0005g0034 | 3 | 322 | 0.0093 | 345 | c.104 others(360): Show |
XG | ENSG00000124343.14 | transcript | ENST00000644266.2 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| XKR4_chr8_55097028_55547054 | 55180831 | C | CCCCAAAA others(338): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0114 | 1 | 182 | 0.0055 | 345 | c.806 others(364): Show |
XKR4 | ENSG00000206579.10 | transcript | ENST00000327381.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ZBTB20_chr3_114309500_115152288 | 114646077 | T | TAAAAATA others(338): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0077 | a0001c0001t0077g0020 | 1 | 88 | 0.0114 | 345 | c.-29 others(366): Show |
ZBTB20 | ENSG00000181722.18 | transcript | ENST00000675478.1 | protein_coding | 6/11 | chr3 | TogoVar | ||||||
| ZBTB40_chr1_22446851_22536154 | 22503144 | T | TGAAGAAC others(338): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0105 | 1 | 342 | 0.0029 | 345 | c.116 others(362): Show |
ZBTB40 | ENSG00000184677.18 | transcript | ENST00000375647.5 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ZC2HC1B_chr6_143859474_143943343 | 143861811 | A | ATGAGTTA others(338): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 330 | 0.0030 | 345 | c.-27 others(356): Show |
ZC2HC1B | ENSG00000118491.10 | transcript | ENST00000237275.9 | protein_coding | 2662 | chr6 | TogoVar | ||||||
| ZC3H4_chr19_47059187_47118776 | 47104952 | G | GTCTCCAG others(338): Show |
intron_variant | MODIFIER | HG02698.hp1 HG03490.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0040a0001c0002t0002g0041 | 2 | 360 | 0.0056 | 345 | c.161 others(362): Show |
ZC3H4 | ENSG00000130749.10 | transcript | ENST00000253048.10 | protein_coding | 2/14 | chr19 | TogoVar | ||||||
| ZC3HAV1_chr7_139038515_139114720 | 139106851 | T | TAAAATAA others(338): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0007 | a0007c0006 | a0007c0006t0001 | a0007c0006t0001g0279 | 1 | 314 | 0.0032 | 345 | c.308 others(362): Show |
ZC3HAV1 | ENSG00000105939.14 | transcript | ENST00000242351.10 | protein_coding | 1/12 | chr7 | TogoVar | ||||||
| ZCWPW2_chr3_28343721_28531358 | 28416333 | T | TAAGAATG others(338): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0115 | 1 | 254 | 0.0039 | 345 | c.332 others(362): Show |
ZCWPW2 | ENSG00000206559.8 | transcript | ENST00000383768.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ZCWPW2_chr3_28343721_28531358 | 28416333 | T | TAAGAATG others(338): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0114 | 1 | 254 | 0.0039 | 345 | c.332 others(362): Show |
ZCWPW2 | ENSG00000206559.8 | transcript | ENST00000383768.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ZDHHC3_chr3_44910261_44981174 | 44972769 | A | AAATTCTT others(338): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 306 | 0.0033 | 345 | c.-25 others(362): Show |
ZDHHC3 | ENSG00000163812.16 | transcript | ENST00000424952.7 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
| ZFPM1_chr16_88448280_88542031 | 88461013 | G | GGCGGGGC others(338): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0118 | 1 | 318 | 0.0031 | 345 | c.40+ others(360): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ZNF3_chr7_100064973_100086723 | 100076130 | A | ACCCAGCA others(338): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 420 | 0.0024 | 345 | c.56- others(358): Show |
ZNF3 | ENSG00000166526.19 | transcript | ENST00000299667.9 | protein_coding | 3/5 | chr7 | TogoVar | ||||||
| ZNF773_chr19_57494938_57513229 | 57508787 | T | TTTGAGCA others(338): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0037 | 2 | 416 | 0.0048 | 345 | c.*13 others(356): Show |
ZNF773 | ENSG00000152439.13 | transcript | ENST00000282292.9 | protein_coding | 559 | chr19 | TogoVar | ||||||
| ZNF778_chr16_89212703_89242141 | 89224967 | T | TAAGATGC others(338): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01070.hp2 HG01168.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0056a0001c0001t0115others(2): Show | a0001c0001t0004g0012a0001c0001t0056g0142a0001c0001t0115g0012others(3): Show | 12 | 434 | 0.0277 | 345 | c.328 others(360): Show |
ZNF778 | ENSG00000170100.14 | transcript | ENST00000433976.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ZNF804B_chr7_88754700_89343528 | 89215580 | G | GAAGAAAG others(338): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03041.hp1 NA18998.hp1 |
a0002a0004 | a0002c0002a0002c0022a0004c0006 | a0002c0002t0001a0002c0022t0001a0004c0006t0001 | a0002c0002t0001g0142a0002c0022t0001g0086a0004c0006t0001g0011 | 3 | 166 | 0.0181 | 345 | c.109 others(362): Show |
ZNF804B | ENSG00000182348.7 | transcript | ENST00000333190.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| ABCB11_chr2_168915781_169036324 | 168975584 | T | TCAATATA others(339): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0156 | 1 | 306 | 0.0033 | 346 | c.130 others(363): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1173057 | T | TCCACCCC others(339): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0059 | 1 | 337 | 0.0030 | 346 | c.61+ others(361): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
| ACAP3_chr1_1287391_1312930 | 1288419 | T | TCCCCCGT others(339): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 295 | 0.0034 | 346 | c.*51 others(357): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3971 | chr1 | TogoVar | ||||||
| ADAMTSL5_chr19_1500022_1518019 | 1500849 | A | AGGGGAAG others(339): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0042 | 2 | 352 | 0.0057 | 346 | c.*51 others(357): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 4172 | chr19 | TogoVar | ||||||
| AFF2_chrX_148495617_149005663 | 148581072 | C | CACACATA others(339): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0118 | a0001c0001t0118g0088 | 1 | 169 | 0.0059 | 346 | c.48- others(363): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| AFF3_chr2_99540419_100147590 | 99820748 | A | AGGTTTTT others(339): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0003 | a0001c0003t0034 | a0001c0003t0034g0072 | 1 | 100 | 0.0100 | 346 | c.921 others(365): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 8/24 | chr2 | TogoVar | ||||||
| AGPS_chr2_177387773_177548834 | 177453985 | C | CCCCCTCT others(339): Show |
intron_variant | MODIFIER | NA18943.hp2 NA20752.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0032 | a0001c0001t0001g0169a0001c0001t0001g0193a0001c0001t0032g0210 | 3 | 258 | 0.0116 | 346 | c.871 others(363): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| AGPS_chr2_177387773_177548834 | 177486726 | G | GCTATATG others(339): Show |
intron_variant | MODIFIER | HG00423.hp2 NA18966.hp1 NA19062.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111a0001c0001t0001g0130a0001c0001t0001g0132 | 3 | 258 | 0.0116 | 346 | c.123 others(365): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| AGPS_chr2_177387773_177548834 | 177486726 | G | GCTATATG others(339): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03041.hp2 |
a0001 | a0001c0002 | a0001c0002t0009a0001c0002t0034 | a0001c0002t0009g0204a0001c0002t0034g0211 | 2 | 258 | 0.0078 | 346 | c.123 others(365): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| AHRR_chr5_316714_443285 | 344420 | G | GTGTGTGT others(339): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0249 | 1 | 268 | 0.0037 | 346 | c.62+ others(359): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | chr5 | TogoVar | ||||||
| AIDA_chr1_222663013_222717491 | 222697341 | T | TAAAAAAG others(339): Show |
intron_variant | MODIFIER | NA18960.hp1 NA18960.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0135a0001c0001t0002g0260 | 2 | 368 | 0.0054 | 346 | c.181 others(363): Show |
AIDA | ENSG00000186063.13 | transcript | ENST00000340020.11 | protein_coding | 2/9 | chr1 | TogoVar | ||||||
| AKT3_chr1_243494724_243855243 | 243525837 | G | GGGAGGAG others(339): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 301 | 0.0033 | 346 | c.125 others(367): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
| ALX1_chr12_85275220_85306784 | 85292939 | T | TAAAAATA others(339): Show |
intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 384 | 0.0026 | 346 | c.660 others(363): Show |
ALX1 | ENSG00000180318.4 | transcript | ENST00000316824.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ANKFN1_chr17_56148475_56522016 | 56409887 | T | TGGCCTCA others(339): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0029 | 1 | 112 | 0.0089 | 346 | c.911 others(365): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| ANO4_chr12_100789776_101133629 | 101056897 | T | TGGAACGT others(339): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02622.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0003a0001c0002t0001a0001c0003t0003others(3): Show | a0001c0001t0003g0105a0001c0002t0001g0004a0001c0003t0003g0043others(3): Show | 6 | 236 | 0.0254 | 346 | c.131 others(365): Show |
ANO4 | ENSG00000151572.18 | transcript | ENST00000392977.8 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ANXA2_chr15_60342151_60402986 | 60365044 | A | ATGGCAGT others(339): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02293.hp2 NA19077.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0113a0001c0001t0001g0200a0002c0002t0001g0313 | 3 | 334 | 0.0090 | 346 | c.149 others(361): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 3/12 | chr15 | TogoVar | ||||||
| AP4S1_chr14_31020649_31101450 | 31035562 | T | TAAAAAAA others(339): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0241 | 1 | 346 | 0.0029 | 346 | c.-72 others(363): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| APOOL_chrX_84998877_85098315 | 85088155 | C | CATATTTA others(339): Show |
3_prime_UTR_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0014 | 1 | 256 | 0.0039 | 346 | c.*48 others(355): Show |
APOOL | ENSG00000155008.16 | transcript | ENST00000373173.7 | protein_coding | 9/9 | 481 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
| ARHGAP44_chr17_12784498_12996643 | 12892384 | T | TAGAAGTT others(339): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0095 | 1 | 230 | 0.0044 | 346 | c.54- others(361): Show |
ARHGAP44 | ENSG00000006740.18 | transcript | ENST00000379672.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| ARHGEF10_chr8_1818926_1963641 | 1825174 | C | CCACCTGT others(339): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0027 | 1 | 363 | 0.0028 | 346 | c.-48 others(363): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ARHGEF10_chr8_1818926_1963641 | 1825174 | C | CCACCTGT others(339): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0004 | a0004c0139 | a0004c0139t0009 | a0004c0139t0009g0196 | 1 | 363 | 0.0028 | 346 | c.-48 others(363): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ARHGEF10_chr8_1818926_1963641 | 1825174 | C | CCACCTGT others(339): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0002 | a0002c0080 | a0002c0080t0022 | a0002c0080t0022g0035 | 1 | 363 | 0.0028 | 346 | c.-48 others(363): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ARHGEF10_chr8_1818926_1963641 | 1825174 | C | CCACCTGT others(339): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0006 | a0006c0099 | a0006c0099t0002 | a0006c0099t0002g0087 | 1 | 363 | 0.0028 | 346 | c.-48 others(363): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ARHGEF10_chr8_1818926_1963641 | 1825174 | C | CCACCTGT others(339): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0002 | a0002c0034 | a0002c0034t0040 | a0002c0034t0040g0074 | 1 | 363 | 0.0028 | 346 | c.-48 others(363): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ARHGEF28_chr5_73621196_73946990 | 73806832 | T | TATATATC others(339): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0086 | 1 | 188 | 0.0053 | 346 | c.102 others(367): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 9/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ASAH1_chr8_18050992_18089107 | 18085612 | T | TAAATAAG others(339): Show |
upstream_gene_variant | MODIFIER | HG01261.hp1 HG01496.hp1 HG02273.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0001g0072a0001c0001t0004g0010a0001c0001t0004g0011others(6): Show | 9 | 420 | 0.0214 | 346 | c.-15 others(357): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 1506 | chr8 | TogoVar | ||||||
| ATP11A_chr13_112685038_112892168 | 112723285 | T | TCCCCACC others(339): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0003 | a0003c0007 | a0003c0007t0005 | a0003c0007t0005g0001 | 1 | 254 | 0.0039 | 346 | c.39+ others(363): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |