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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IL1RAPL1_chrX_28582446_29961718 | 29168755 | A | ATATATTC others(97): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 135 | 0.0074 | 104 | c.83- others(123): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL33_chr9_6210807_6262983 | 6218907 | T | TATATGTT others(97): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 a0001c0001t0003g0058 |
4 | 344 | 0.0116 | 104 | c.-12 others(121): Show |
IL33 | ENSG00000137033.12 | transcript | ENST00000682010.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ILRUN_chr6_34582288_34701767 | 34686896 | C | CAGTGAGC others(97): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02109.hp1 HG02970.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0013a0001c0001t0021others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0312 a0001c0001t0013g0313 others(5): Show |
8 | 16 | 0.5000 | 104 | c.158 others(121): Show |
ILRUN | ENSG00000196821.10 | transcript | ENST00000374023.8 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
IMPA1_chr8_81651914_81691325 | 81688664 | A | AAAAGAAA others(97): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0090 | 1 | 313 | 0.0032 | 104 | c.-24 others(115): Show |
IMPA1 | ENSG00000133731.10 | transcript | ENST00000256108.10 | protein_coding | 2340 | chr8 | TogoVar | |||||||
INF2_chr14_104684618_104727535 | 104720403 | C | CGTCGTCC others(97): Show |
3_prime_UTR_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0031 | 2 | 378 | 0.0053 | 104 | c.*16 others(115): Show |
INF2 | ENSG00000203485.14 | transcript | ENST00000392634.9 | protein_coding | 23/23 | 5091 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132771713 | T | TGAAGAGT others(97): Show |
intron_variant | MODIFIER | HG02523.hp1 NA18962.hp1 NA19011.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0002g0132 |
3 | 197 | 0.0152 | 104 | c.977 others(121): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132772551 | A | AGAGGCCA others(97): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 194 | 0.0052 | 104 | c.978 others(121): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
IPCEF1_chr6_154149496_154361803 | 154331405 | A | AAGAAAGA others(97): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0143 a0001c0001t0007g0091 |
2 | 97 | 0.0206 | 104 | c.-62 others(123): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
IPCEF1_chr6_154149496_154361803 | 154331405 | A | AAGAAAGA others(97): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0146 | 1 | 96 | 0.0104 | 104 | c.-62 others(123): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
IQCA1_chr2_236319151_236512476 | 236357453 | A | ATATATTT others(97): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0173 | 1 | 198 | 0.0051 | 104 | c.186 others(123): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 15/18 | chr2 | TogoVar | |||||||
IQGAP2_chr5_76398285_76713132 | 76699719 | T | TTCTCTCT others(97): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0006 | a0002c0006t0007 | a0002c0006t0007g0028 | 1 | 78 | 0.0128 | 104 | c.436 others(123): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 33/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IRF4_chr6_386752_416443 | 396701 | G | GATGCCAG others(97): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0105 | 1 | 405 | 0.0025 | 104 | c.493 others(119): Show |
IRF4 | ENSG00000137265.16 | transcript | ENST00000380956.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
IRF4_chr6_386752_416443 | 396767 | C | CTATCTCA others(97): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0162 | 1 | 240 | 0.0042 | 104 | c.493 others(119): Show |
IRF4 | ENSG00000137265.16 | transcript | ENST00000380956.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ITGA11_chr15_68291532_68437163 | 68400638 | A | AATATTAT others(97): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0007 | a0007c0007 | a0007c0007t0032 | a0007c0007t0032g0111 | 1 | 237 | 0.0042 | 104 | c.164 others(121): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | |||||||
ITGA11_chr15_68291532_68437163 | 68400861 | A | ATATAATA others(97): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03516.hp1 |
a0001a0004 | a0001c0001a0004c0013 | a0001c0001t0001a0004c0013t0047 | a0001c0001t0001g0229 a0004c0013t0047g0230 |
2 | 204 | 0.0098 | 104 | c.164 others(121): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50086190 | T | TTATATAT others(97): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0024 | a0001c0024t0026 | a0001c0024t0026g0148 | 1 | 24 | 0.0417 | 104 | c.292 others(123): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGAV_chr2_186585056_186685901 | 186605755 | T | TTTATATG others(97): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0234 | 1 | 122 | 0.0082 | 104 | c.316 others(121): Show |
ITGAV | ENSG00000138448.13 | transcript | ENST00000261023.8 | protein_coding | 2/29 | chr2 | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9406087 | T | TTGTCACT others(97): Show |
3_prime_UTR_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0125 | 1 | 269 | 0.0037 | 104 | c.*74 others(113): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 746 | chr2 | TogoVar | ||||||
JAG2_chr14_105135995_105173776 | 105149868 | T | TGGGGAGG others(97): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0111 | 1 | 199 | 0.0050 | 104 | c.160 others(121): Show |
JAG2 | ENSG00000184916.9 | transcript | ENST00000331782.8 | protein_coding | 12/25 | chr14 | TogoVar | |||||||
JAK1_chr1_64828229_64971549 | 64913686 | A | AGGAAGGA others(97): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03139.hp2 HG03209.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0190 others(2): Show |
5 | 322 | 0.0155 | 104 | c.-77 others(123): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
JAK1_chr1_64828229_64971549 | 64913709 | G | GAGGGAGG others(97): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0266 | 1 | 217 | 0.0046 | 104 | c.-77 others(123): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
JAKMIP2_chr5_147580438_147787728 | 147764920 | A | AAGAAAGA others(97): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0172 | 1 | 201 | 0.0050 | 104 | c.-14 others(125): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 1/21 | chr5 | TogoVar | |||||||
JAKMIP2_chr5_147580438_147787728 | 147764930 | G | GAAAGAAA others(97): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0002 | a0001c0002t0083 | a0001c0002t0083g0244 | 1 | 203 | 0.0049 | 104 | c.-14 others(125): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 1/21 | chr5 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132159641 | G | GGGGGGCC others(97): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0102 | 1 | 152 | 0.0066 | 104 | c.222 others(123): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132160026 | T | TGGGGGCG others(97): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0004 | a0004c0030 | a0004c0030t0027 | a0004c0030t0027g0084 | 1 | 123 | 0.0081 | 104 | c.222 others(123): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132160210 | G | GCAGGGGG others(97): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0014 | 1 | 156 | 0.0064 | 104 | c.222 others(123): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | chr10 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132160710 | G | GAGCCTCT others(97): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 | 1 | 156 | 0.0064 | 104 | c.222 others(123): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | chr10 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132160811 | G | GGGGGGGG others(97): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG03834.hp2 others(1): Show |
a0001a0002 | a0001c0013a0001c0015a0002c0026 | a0001c0013t0001a0001c0013t0015a0001c0015t0001others(1): Show | a0001c0013t0001g0130 a0001c0013t0015g0148 a0001c0015t0001g0030 others(1): Show |
4 | 136 | 0.0294 | 104 | c.222 others(123): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAM3_chr11_134064072_134157001 | 134069509 | C | CGGGTGGG others(97): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0052 | 1 | 347 | 0.0029 | 104 | c.76+ others(117): Show |
JAM3 | ENSG00000166086.13 | transcript | ENST00000299106.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
JMY_chr5_79231131_79332211 | 79270523 | A | ATATATTT others(97): Show |
intron_variant | MODIFIER | NA18957.hp1 NA18999.hp1 |
a0004 | a0004c0003 | a0004c0003t0003 | a0004c0003t0003g0147 a0004c0003t0003g0166 |
2 | 120 | 0.0167 | 104 | c.103 others(123): Show |
JMY | ENSG00000152409.9 | transcript | ENST00000396137.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37677771 | T | TCCATCCA others(97): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02257.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0037 | a0001c0001t0011g0001 a0001c0001t0037g0014 |
2 | 8 | 0.2500 | 104 | c.946 others(123): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
KCNK1_chr1_233609106_233677514 | 233672630 | T | TATATATA others(97): Show |
downstream_gene_variant | MODIFIER | NA18963.hp2 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0152 a0001c0001t0003g0153 |
2 | 420 | 0.0048 | 104 | c.*11 others(115): Show |
KCNK1 | ENSG00000135750.15 | transcript | ENST00000366621.8 | protein_coding | 117 | chr1 | TogoVar | |||||||
KCNK1_chr1_233609106_233677514 | 233672632 | T | TATATATA others(97): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG02280.hp2 HG02683.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0383 a0001c0001t0001g0406 a0001c0001t0001g0407 others(3): Show |
6 | 417 | 0.0144 | 104 | c.*11 others(115): Show |
KCNK1 | ENSG00000135750.15 | transcript | ENST00000366621.8 | protein_coding | 119 | chr1 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178758141 | T | TATATATA others(97): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 | 1 | 230 | 0.0043 | 104 | c.-67 others(123): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KHDRBS2_chr6_61674961_62291225 | 61954349 | A | ATATGCAT others(97): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG01516.hp1 others(15): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0002a0001c0002t0004a0001c0003t0002others(2): Show | a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 others(15): Show |
18 | 183 | 0.0984 | 104 | c.483 others(123): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
KIAA0930_chr22_45187244_45245894 | 45229125 | C | CCGCCATC others(97): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01175.hp1 |
a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0313 a0001c0001t0022g0387 |
2 | 396 | 0.0051 | 104 | c.64+ others(121): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
KIF16B_chr20_16267104_16578448 | 16395291 | A | AGGGAGGG others(97): Show |
intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 | 1 | 41 | 0.0244 | 104 | c.178 others(123): Show |
KIF16B | ENSG00000089177.20 | transcript | ENST00000354981.7 | protein_coding | 17/25 | chr20 | TogoVar | |||||||
KIF1A_chr2_240708767_240825219 | 240781189 | A | ACACACAG others(97): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0190 | 1 | 318 | 0.0031 | 104 | c.882 others(121): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 10/48 | chr2 | TogoVar | |||||||
KLHL13_chrX_117892813_118121810 | 118031420 | A | AATATATA others(97): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02257.hp1 HG02559.hp1 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0048 a0001c0002t0001g0055 a0001c0002t0001g0059 others(11): Show |
14 | 157 | 0.0892 | 104 | c.-24 others(121): Show |
KLHL13 | ENSG00000003096.15 | transcript | ENST00000540167.6 | protein_coding | 1/7 | chrX | TogoVar | |||||||
KLHL13_chrX_117892813_118121810 | 118031481 | A | AGATATAT others(97): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02615.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0057 a0001c0003t0001g0058 |
2 | 205 | 0.0098 | 104 | c.-24 others(121): Show |
KLHL13 | ENSG00000003096.15 | transcript | ENST00000540167.6 | protein_coding | 1/7 | chrX | TogoVar | |||||||
KLHL18_chr3_47277944_47351816 | 47316723 | G | GTGTATAT others(97): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02486.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0071 |
3 | 332 | 0.0090 | 104 | c.130 others(121): Show |
KLHL18 | ENSG00000114648.12 | transcript | ENST00000232766.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KLHL18_chr3_47277944_47351816 | 47316725 | G | GTATATAC others(97): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 336 | 0.0030 | 104 | c.130 others(121): Show |
KLHL18 | ENSG00000114648.12 | transcript | ENST00000232766.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KLHL1_chr13_69695597_70113452 | 69721062 | G | GATATATA others(97): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0146 | 1 | 37 | 0.0270 | 104 | c.180 others(123): Show |
KLHL1 | ENSG00000150361.12 | transcript | ENST00000377844.9 | protein_coding | 8/10 | chr13 | TogoVar | |||||||
KLHL1_chr13_69695597_70113452 | 69721062 | G | GATATATA others(97): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0072 | 1 | 37 | 0.0270 | 104 | c.180 others(123): Show |
KLHL1 | ENSG00000150361.12 | transcript | ENST00000377844.9 | protein_coding | 8/10 | chr13 | TogoVar | |||||||
KLHL1_chr13_69695597_70113452 | 69721062 | G | GATATATA others(97): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02735.hp2 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007 | a0001c0001t0001g0034 a0001c0001t0004g0006 a0001c0001t0007g0149 |
3 | 39 | 0.0769 | 104 | c.180 others(123): Show |
KLHL1 | ENSG00000150361.12 | transcript | ENST00000377844.9 | protein_coding | 8/10 | chr13 | TogoVar | |||||||
KLHL25_chr15_85754326_85799925 | 85757581 | T | TCCTCCTC others(97): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0054 | 1 | 33 | 0.0303 | 104 | c.*34 others(115): Show |
KLHL25 | ENSG00000183655.13 | transcript | ENST00000337975.6 | protein_coding | 1744 | chr15 | TogoVar | |||||||
KLHL25_chr15_85754326_85799925 | 85757581 | T | TCCTCCTC others(97): Show |
downstream_gene_variant | MODIFIER | HG03017.hp2 HG03239.hp2 HG03492.hp2 others(5): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0002 | a0001c0001t0002g0001 a0001c0001t0002g0021 a0001c0001t0002g0102 others(5): Show |
8 | 40 | 0.2000 | 104 | c.*34 others(115): Show |
KLHL25 | ENSG00000183655.13 | transcript | ENST00000337975.6 | protein_coding | 1744 | chr15 | TogoVar | |||||||
KLHL25_chr15_85754326_85799925 | 85757581 | T | TCCTCCTC others(97): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG02258.hp1 HG02258.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0016a0001c0001t0021others(1): Show | a0001c0001t0011g0007 a0001c0001t0011g0163 a0001c0001t0011g0164 others(5): Show |
9 | 41 | 0.2195 | 104 | c.*34 others(115): Show |
KLHL25 | ENSG00000183655.13 | transcript | ENST00000337975.6 | protein_coding | 1744 | chr15 | TogoVar | |||||||
KLHL25_chr15_85754326_85799925 | 85757581 | T | TCCTCCTC others(97): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 HG02809.hp2 HG02896.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0045 a0001c0001t0010g0046 a0001c0001t0010g0050 others(3): Show |
6 | 38 | 0.1579 | 104 | c.*34 others(115): Show |
KLHL25 | ENSG00000183655.13 | transcript | ENST00000337975.6 | protein_coding | 1744 | chr15 | TogoVar | |||||||
KPNA7_chr7_99168572_99213115 | 99181014 | T | TCTCCCCG others(97): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02615.hp1 HG03041.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 others(2): Show |
5 | 330 | 0.0152 | 104 | c.131 others(121): Show |
KPNA7 | ENSG00000185467.8 | transcript | ENST00000327442.7 | protein_coding | 9/10 | chr7 | TogoVar |