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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GSDMC_chr8_129743196_129791624 | 129748242 | A | ATTTTTTA others(24): Show |
3_prime_UTR_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0113 | 1 | 414 | 0.0024 | 31 | c.*25 others(40): Show |
GSDMC | ENSG00000147697.10 | transcript | ENST00000276708.9 | protein_coding | 14/14 | 258 | chr8 | TogoVar | ||||||
GSG1L_chr16_27782528_28068714 | 28059051 | G | GGTGGGGG others(24): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 238 | 0.0042 | 31 | c.349 others(48): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 1/6 | chr16 | TogoVar | |||||||
GSPT2_chrX_51738442_51751232 | 51738482 | T | TAATTAGC others(24): Show |
upstream_gene_variant | MODIFIER | NA18974.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0000 | 1 | 310 | 0.0032 | 31 | c.-51 others(42): Show |
GSPT2 | ENSG00000189369.9 | transcript | ENST00000340438.6 | protein_coding | 4959 | chrX | TogoVar | |||||||
GSTCD_chr4_105703784_105852725 | 105766887 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0101 | 1 | 19 | 0.0526 | 31 | c.124 others(52): Show |
GSTCD | ENSG00000138780.15 | transcript | ENST00000515279.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GSTO2_chr10_104264184_104309950 | 104293563 | A | ATTTTTTT others(24): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03540.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0040 a0001c0002t0001g0049 |
2 | 129 | 0.0155 | 31 | c.469 others(48): Show |
GSTO2 | ENSG00000065621.15 | transcript | ENST00000338595.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GSTO2_chr10_104264184_104309950 | 104309331 | T | TATATATA others(24): Show |
downstream_gene_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0158 | 1 | 271 | 0.0037 | 31 | c.*10 others(44): Show |
GSTO2 | ENSG00000065621.15 | transcript | ENST00000338595.7 | protein_coding | 4382 | chr10 | TogoVar | |||||||
GTF2F2_chr13_45115510_45289893 | 45212447 | G | GTTTCTTT others(24): Show |
intron_variant | MODIFIER | NA18971.hp1 NA19005.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 a0001c0002t0001g0154 |
2 | 152 | 0.0132 | 31 | c.386 others(48): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GTF2H5_chr6_158163350_158204344 | 158169341 | C | CGTATATT others(24): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0072 | 1 | 362 | 0.0028 | 31 | c.-35 others(46): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GTF2H5_chr6_158163350_158204344 | 158169371 | A | ATGTATAT others(24): Show |
intron_variant | MODIFIER | HG02735.hp2 NA18995.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0116 a0001c0001t0009g0257 |
2 | 382 | 0.0052 | 31 | c.-35 others(48): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GTF2H5_chr6_158163350_158204344 | 158169681 | A | ATATTGTA others(24): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0047 | 1 | 339 | 0.0029 | 31 | c.-34 others(46): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GTF2H5_chr6_158163350_158204344 | 158169766 | A | ATATATTA others(24): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 363 | 0.0028 | 31 | c.-34 others(46): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GTF2I_chr7_74652718_74765692 | 74680099 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0010 | 1 | 123 | 0.0081 | 31 | c.-5- others(46): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GUCA1B_chr6_42178284_42199956 | 42188886 | T | TTCTATCT others(24): Show |
intron_variant | MODIFIER | HG03017.hp1 HG03516.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0131 a0001c0002t0001g0132 |
2 | 351 | 0.0057 | 31 | c.208 others(46): Show |
GUCA1B | ENSG00000112599.9 | transcript | ENST00000230361.4 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
GUCA1C_chr3_108902792_108958879 | 108939324 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0229 | 1 | 91 | 0.0110 | 31 | c.204 others(50): Show |
GUCA1C | ENSG00000138472.11 | transcript | ENST00000261047.8 | protein_coding | 1/3 | chr3 | TogoVar | |||||||
GUCY1A2_chr11_106669019_107023476 | 106698119 | A | ATTTTTTT others(24): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03239.hp2 NA19030.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0037a0001c0003t0034 | a0001c0001t0004g0070 a0001c0001t0037g0079 a0001c0003t0034g0244 |
3 | 101 | 0.0297 | 31 | c.199 others(52): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 7/7 | chr11 | TogoVar | |||||||
GUCY2C_chr12_14607632_14701599 | 14696937 | G | GTATATAT others(24): Show |
upstream_gene_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 187 | 0.0053 | 31 | c.-49 others(40): Show |
GUCY2C | ENSG00000070019.5 | transcript | ENST00000261170.5 | protein_coding | 339 | chr12 | TogoVar | |||||||
GYG1_chr3_148986540_149036775 | 149022498 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03130.hp1 NA18522.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0014 a0001c0003t0004g0333 |
4 | 102 | 0.0392 | 31 | c.609 others(48): Show |
GYG1 | ENSG00000163754.18 | transcript | ENST00000345003.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
H1-8_chr3_129538175_129556467 | 129538525 | C | CCCTTCCT others(24): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 177 | 0.0056 | 31 | c.-46 others(42): Show |
H1-8 | ENSG00000178804.8 | transcript | ENST00000324382.7 | protein_coding | 4649 | chr3 | TogoVar | |||||||
H2AC4_chr6_26028092_26038618 | 26031178 | A | ATATATAT others(24): Show |
downstream_gene_variant | MODIFIER | HG04204.hp2 NA19240.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0000 a0001c0002t0001g0000 |
2 | 365 | 0.0055 | 31 | c.*19 others(42): Show |
H2AC4 | ENSG00000278463.2 | transcript | ENST00000615868.2 | protein_coding | 1913 | chr6 | TogoVar | |||||||
H3-3B_chr17_75771434_75784779 | 75782239 | A | ATTTTTTT others(24): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0013 | 1 | 149 | 0.0067 | 31 | c.-25 others(42): Show |
H3-3B | ENSG00000132475.10 | transcript | ENST00000254810.8 | protein_coding | 2461 | chr17 | TogoVar | |||||||
H3C2_chr6_26026589_26037099 | 26031178 | A | ATATATAT others(24): Show |
downstream_gene_variant | MODIFIER | HG04204.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 356 | 0.0056 | 31 | c.*47 others(40): Show |
H3C2 | ENSG00000286522.2 | transcript | ENST00000621411.3 | protein_coding | 410 | chr6 | TogoVar | |||||||
H4C2_chr6_26021896_26032283 | 26031178 | A | ATATATAT others(24): Show |
upstream_gene_variant | MODIFIER | HG04204.hp2 NA19240.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0000 a0001c0002t0002g0000 |
2 | 358 | 0.0056 | 31 | c.-39 others(42): Show |
H4C2 | ENSG00000278705.3 | transcript | ENST00000377745.5 | protein_coding | 3896 | chr6 | TogoVar | |||||||
HACD1_chr10_17584032_17622374 | 17591976 | A | ATTTTTTT others(24): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0113 | 1 | 133 | 0.0075 | 31 | c.785 others(48): Show |
HACD1 | ENSG00000165996.14 | transcript | ENST00000361271.8 | protein_coding | 6/6 | chr10 | TogoVar | |||||||
HADHB_chr2_26239939_26295465 | 26266871 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 a0001c0001t0001g0244 |
2 | 158 | 0.0127 | 31 | c.210 others(48): Show |
HADHB | ENSG00000138029.14 | transcript | ENST00000317799.10 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAP1_chr17_41717640_41739643 | 41730113 | G | GAAAAGAA others(24): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0011 | a0011c0011 | a0011c0011t0003 | a0011c0011t0003g0138 | 1 | 366 | 0.0027 | 31 | c.106 others(50): Show |
HAP1 | ENSG00000173805.16 | transcript | ENST00000347901.9 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
HARBI1_chr11_46597861_46622227 | 46609588 | C | CACCCACC others(24): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG00673.hp2 others(149): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(116): Show |
152 | 254 | 0.5984 | 31 | c.671 others(48): Show |
HARBI1 | ENSG00000180423.4 | transcript | ENST00000326737.3 | protein_coding | 2/2 | chr11 | TogoVar | |||||||
HASPIN_chr17_3718903_3731699 | 3730454 | A | AAAAAAAA others(24): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG01433.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0000 a0002c0002t0002g0000 |
2 | 307 | 0.0065 | 31 | c.*41 others(42): Show |
HASPIN | ENSG00000177602.5 | transcript | ENST00000325418.5 | protein_coding | 3756 | chr17 | TogoVar | |||||||
HASPIN_chr17_3718903_3731699 | 3730454 | A | AAAAAAAA others(24): Show |
downstream_gene_variant | MODIFIER | HG03490.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 306 | 0.0033 | 31 | c.*41 others(42): Show |
HASPIN | ENSG00000177602.5 | transcript | ENST00000325418.5 | protein_coding | 3756 | chr17 | TogoVar | |||||||
HASPIN_chr17_3718903_3731699 | 3730454 | A | AAAAAAAA others(24): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(88): Show |
a0002a0008a0017 | a0002c0002a0008c0019a0017c0018 | a0002c0002t0002a0008c0019t0002a0017c0018t0005 | a0002c0002t0002g0000 a0008c0019t0002g0000 a0017c0018t0005g0000 |
91 | 396 | 0.2298 | 31 | c.*41 others(42): Show |
HASPIN | ENSG00000177602.5 | transcript | ENST00000325418.5 | protein_coding | 3756 | chr17 | TogoVar | |||||||
HASPIN_chr17_3718903_3731699 | 3730454 | A | AAAAAAAA others(24): Show |
downstream_gene_variant | MODIFIER | NA18959.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 306 | 0.0033 | 31 | c.*41 others(42): Show |
HASPIN | ENSG00000177602.5 | transcript | ENST00000325418.5 | protein_coding | 3756 | chr17 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42544838 | C | CTATATAT others(24): Show |
upstream_gene_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0049 | 1 | 297 | 0.0034 | 31 | c.-40 others(42): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 3999 | chr15 | TogoVar | |||||||
HAX1_chr1_154267629_154280875 | 154277333 | T | TATATATA others(24): Show |
downstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 283 | 0.0035 | 31 | c.*16 others(42): Show |
HAX1 | ENSG00000143575.16 | transcript | ENST00000328703.12 | protein_coding | 1459 | chr1 | TogoVar | |||||||
HBM_chr16_160978_171764 | 164800 | G | GGCGGGGC others(24): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 307 | 0.0033 | 31 | c.-11 others(42): Show |
HBM | ENSG00000206177.7 | transcript | ENST00000356815.4 | protein_coding | 1177 | chr16 | TogoVar | |||||||
HBZ_chr16_147644_159503 | 154177 | G | GGTCGCGG others(24): Show |
intron_variant | MODIFIER | HG00544.hp1 HG03041.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 3 | 181 | 0.0166 | 31 | c.300 others(44): Show |
HBZ | ENSG00000130656.6 | transcript | ENST00000252951.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HCK_chr20_32047242_32106856 | 32094700 | A | AAAGAAAG others(24): Show |
intron_variant | MODIFIER | HG03486.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0023 |
2 | 261 | 0.0077 | 31 | c.124 others(48): Show |
HCK | ENSG00000101336.18 | transcript | ENST00000375852.5 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
HCK_chr20_32047242_32106856 | 32094705 | A | AAAGAAAG others(24): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0245 | 1 | 87 | 0.0115 | 31 | c.124 others(48): Show |
HCK | ENSG00000101336.18 | transcript | ENST00000375852.5 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
HCN1_chr5_45249948_45701380 | 45374290 | T | TAATATAT others(24): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00558.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0082 a0001c0001t0002g0090 a0001c0001t0002g0098 others(28): Show |
31 | 190 | 0.1632 | 31 | c.123 others(52): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
HCN1_chr5_45249948_45701380 | 45375433 | T | TATATATA others(24): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00741.hp1 HG01081.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0013 a0001c0001t0001g0051 a0001c0001t0001g0204 others(5): Show |
8 | 220 | 0.0364 | 31 | c.123 others(52): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
HCN1_chr5_45249948_45701380 | 45375464 | G | GATATATA others(24): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00673.hp2 HG01167.hp2 others(25): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0019 a0001c0001t0001g0073 a0001c0001t0001g0091 others(25): Show |
28 | 145 | 0.1931 | 31 | c.123 others(52): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
HCN1_chr5_45249948_45701380 | 45375710 | A | ATTATATA others(24): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100 | 1 | 214 | 0.0047 | 31 | c.123 others(52): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
HCN4_chr15_73314859_73373958 | 73316249 | T | TATATATA others(24): Show |
downstream_gene_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0211 | 1 | 340 | 0.0029 | 31 | c.*62 others(42): Show |
HCN4 | ENSG00000138622.4 | transcript | ENST00000261917.4 | protein_coding | 3609 | chr15 | TogoVar | |||||||
HCRTR2_chr6_55169515_55287617 | 55241861 | A | ATTTTTTT others(24): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0179 | 1 | 215 | 0.0047 | 31 | c.224 others(48): Show |
HCRTR2 | ENSG00000137252.10 | transcript | ENST00000370862.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HDHD3_chr9_113368422_113381986 | 113381268 | C | CCTTTCTT others(24): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0054 | 1 | 329 | 0.0030 | 31 | c.-48 others(42): Show |
HDHD3 | ENSG00000119431.10 | transcript | ENST00000374180.4 | protein_coding | 4283 | chr9 | TogoVar | |||||||
HDHD3_chr9_113368422_113381986 | 113381268 | C | CCTTTCTT others(24): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00741.hp1 others(21): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(4): Show | a0001c0001t0003g0036 a0001c0001t0003g0046 a0001c0001t0003g0093 others(9): Show |
24 | 352 | 0.0682 | 31 | c.-48 others(42): Show |
HDHD3 | ENSG00000119431.10 | transcript | ENST00000374180.4 | protein_coding | 4283 | chr9 | TogoVar | |||||||
HDHD3_chr9_113368422_113381986 | 113381760 | C | CTTTTTTT others(24): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0023 | 1 | 151 | 0.0066 | 31 | c.-53 others(42): Show |
HDHD3 | ENSG00000119431.10 | transcript | ENST00000374180.4 | protein_coding | 4775 | chr9 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73506804 | G | GTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01981.hp1 HG02056.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0290 a0001c0002t0002g0300 a0001c0002t0002g0302 |
3 | 71 | 0.0423 | 31 | c.188 others(48): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 9/17 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73524310 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0009 | a0009c0015 | a0009c0015t0008 | a0009c0015t0008g0354 | 1 | 118 | 0.0085 | 31 | c.-72 others(48): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 2/17 | chr14 | TogoVar | |||||||
HEATR5A_chr14_31286788_31425550 | 31407604 | A | ATATTTAT others(24): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0011 | a0011c0013 | a0011c0013t0011 | a0011c0013t0011g0339 | 1 | 353 | 0.0028 | 31 | c.-74 others(48): Show |
HEATR5A | ENSG00000129493.15 | transcript | ENST00000543095.7 | protein_coding | 1/35 | chr14 | TogoVar | |||||||
HEATR5B_chr2_36975895_37089372 | 36984215 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0171 | 1 | 153 | 0.0065 | 31 | c.591 others(50): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 35/35 | chr2 | TogoVar | |||||||
HECTD1_chr14_31095117_31212793 | 31134042 | T | TAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0336 | 1 | 139 | 0.0072 | 31 | c.357 others(48): Show |
HECTD1 | ENSG00000092148.14 | transcript | ENST00000399332.6 | protein_coding | 22/42 | chr14 | TogoVar |