| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| FAIM_chr3_138603771_138638376 | 138609541 | T | TCTCTCTC others(94): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0337 | 1 | 368 | 0.0027 | 101 | c.-17 others(116): Show |
FAIM | ENSG00000158234.13 | transcript | ENST00000360570.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| FARP1_chr13_98138094_98460176 | 98153521 | A | ATATATAT others(94): Show |
intron_variant | MODIFIER | HG01975.hp1 HG01981.hp2 HG01993.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0006 | a0001c0001t0001g0059a0001c0001t0001g0062a0001c0002t0006g0060 | 3 | 218 | 0.0138 | 101 | c.-24 others(120): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| FBRSL1_chr12_132485151_132590188 | 132556814 | C | CCCCTCCT others(94): Show |
intron_variant | MODIFIER | HG03654.hp1 NA20752.hp2 |
a0000a0002 | a0000c0036a0002c0004 | a0000c0036t0001a0002c0004t0001 | a0000c0036t0001g0138a0002c0004t0001g0137 | 2 | 348 | 0.0058 | 101 | c.645 others(118): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 5/18 | chr12 | TogoVar | ||||||
| FBXO25_chr8_401958_482967 | 426942 | C | CTTTTTTT others(94): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0333 | 1 | 412 | 0.0024 | 101 | c.135 others(118): Show |
FBXO25 | ENSG00000147364.17 | transcript | ENST00000350302.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| FER1L5_chr2_96637764_96709883 | 96659290 | T | TTTCCTTC others(94): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0178 | 1 | 226 | 0.0044 | 101 | c.748 others(118): Show |
FER1L5 | ENSG00000249715.13 | transcript | ENST00000624922.6 | protein_coding | 9/52 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| FER1L5_chr2_96637764_96709883 | 96659362 | C | CTTTCTTT others(94): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0178 | 1 | 226 | 0.0044 | 101 | c.748 others(116): Show |
FER1L5 | ENSG00000249715.13 | transcript | ENST00000624922.6 | protein_coding | 9/52 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| FGF14_chr13_101705804_101921945 | 101820757 | A | AAAAGCTA others(94): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(75): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0029a0001c0001t0001g0033a0001c0001t0001g0036others(75): Show | 78 | 266 | 0.2932 | 101 | c.408 others(120): Show |
FGF14 | ENSG00000102466.17 | transcript | ENST00000376143.5 | protein_coding | 3/4 | chr13 | TogoVar | ||||||
| FGL1_chr8_17859389_17900524 | 17882814 | A | AATATATA others(94): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0052 | 1 | 366 | 0.0027 | 101 | c.64- others(114): Show |
FGL1 | ENSG00000104760.17 | transcript | ENST00000427924.5 | protein_coding | 2/7 | chr8 | TogoVar | ||||||
| FKBP2_chr11_64236095_64249132 | 64237123 | G | GAGAGAGA others(94): Show |
upstream_gene_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 332 | 0.0030 | 101 | c.-40 others(112): Show |
FKBP2 | ENSG00000173486.14 | transcript | ENST00000309366.9 | protein_coding | 3971 | chr11 | TogoVar | ||||||
| FKBP2_chr11_64236095_64249132 | 64237123 | G | GAGAGAGA others(94): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 332 | 0.0030 | 101 | c.-40 others(112): Show |
FKBP2 | ENSG00000173486.14 | transcript | ENST00000309366.9 | protein_coding | 3971 | chr11 | TogoVar | ||||||
| FLT4_chr5_180596506_180654600 | 180618178 | T | TTCCAGAG others(94): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 388 | 0.0026 | 101 | c.300 others(118): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 21/29 | chr5 | TogoVar | ||||||
| FMO3_chr1_171085905_171122819 | 171096071 | T | TAATATAT others(94): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01074.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0038 | 2 | 404 | 0.0050 | 101 | c.132 others(118): Show |
FMO3 | ENSG00000007933.13 | transcript | ENST00000367755.9 | protein_coding | 2/8 | chr1 | TogoVar | ||||||
| FN3K_chr17_82730615_82756196 | 82738947 | T | TATATATA others(94): Show |
intron_variant | MODIFIER | HG00280.hp2 HG02155.hp1 HG03490.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 | 4 | 402 | 0.0100 | 101 | c.293 others(116): Show |
FN3K | ENSG00000167363.14 | transcript | ENST00000300784.8 | protein_coding | 2/5 | chr17 | TogoVar | ||||||
| FOXP1_chr3_70949708_71588728 | 71435381 | A | AGGGAGGG others(94): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0039 | 1 | 96 | 0.0104 | 101 | c.-16 others(122): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
| FRMD3_chr9_83239622_83543401 | 83479624 | A | AAAGGAAA others(94): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 242 | 0.0041 | 101 | c.147 others(120): Show |
FRMD3 | ENSG00000172159.16 | transcript | ENST00000304195.8 | protein_coding | 1/13 | chr9 | TogoVar | ||||||
| GALM_chr2_38661114_38739765 | 38686243 | T | TTCTTCCT others(94): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0228 | 1 | 328 | 0.0031 | 101 | c.553 others(118): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 3/6 | chr2 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132244286 | G | GGGGGGAT others(94): Show |
intron_variant | MODIFIER | HG02683.hp2 HG03139.hp1 HG03139.hp2 |
a0001a0005 | a0001c0002a0001c0005a0005c0023 | a0001c0002t0005a0001c0005t0001a0005c0023t0005 | a0001c0002t0005g0066a0001c0005t0001g0008a0005c0023t0005g0028 | 3 | 183 | 0.0164 | 101 | c.107 others(120): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132297073 | G | GACCAACT others(94): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01361.hp2 HG01943.hp1 others(1): Show |
a0001 | a0001c0001a0001c0018a0001c0030others(1): Show | a0001c0001t0001a0001c0018t0001a0001c0030t0001others(1): Show | a0001c0001t0001g0149a0001c0018t0001g0039a0001c0030t0001g0110others(1): Show | 4 | 183 | 0.0219 | 101 | c.239 others(120): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
| GINS3_chr16_58387471_58411147 | 58396511 | C | CGGGGGGC others(94): Show |
intron_variant | MODIFIER | HG06807.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0173a0001c0001t0003g0174 | 2 | 434 | 0.0046 | 101 | c.186 others(118): Show |
GINS3 | ENSG00000181938.14 | transcript | ENST00000318129.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| GLDC_chr9_6527467_6650729 | 6629957 | A | ATATATAT others(94): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0036 | 1 | 342 | 0.0029 | 101 | c.335 others(118): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 2/24 | chr9 | TogoVar | ||||||
| GLDC_chr9_6527467_6650729 | 6629957 | A | ATATATGT others(94): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02818.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0023 | a0001c0001t0004g0284a0001c0002t0023g0077 | 2 | 342 | 0.0059 | 101 | c.335 others(118): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 2/24 | chr9 | TogoVar | ||||||
| GLG1_chr16_74442440_74612114 | 74540093 | T | TTATATTA others(94): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 342 | 0.0029 | 101 | c.439 others(118): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 1/25 | chr16 | TogoVar | ||||||
| GMEB2_chr20_63582605_63632101 | 63607571 | A | ACTCCACC others(94): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0007 | a0001c0007t0007 | a0001c0007t0007g0038 | 1 | 330 | 0.0030 | 101 | c.132 others(118): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | ||||||
| GMEB2_chr20_63582605_63632101 | 63607574 | C | CCACCTCC others(94): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0007 | a0001c0007t0007 | a0001c0007t0007g0041 | 1 | 330 | 0.0030 | 101 | c.132 others(118): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | ||||||
| GMEB2_chr20_63582605_63632101 | 63608245 | C | CCCGACCC others(94): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02647.hp1 HG02717.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0121a0001c0001t0001g0122others(1): Show | 5 | 330 | 0.0152 | 101 | c.132 others(118): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | ||||||
| GMEB2_chr20_63582605_63632101 | 63608895 | T | TCTGACCC others(94): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0007 | a0001c0007t0007 | a0001c0007t0007g0041 | 1 | 330 | 0.0030 | 101 | c.132 others(118): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | ||||||
| GMEB2_chr20_63582605_63632101 | 63608934 | C | CCTCACCT others(94): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(67): Show |
a0001 | a0001c0003a0001c0015 | a0001c0003t0002a0001c0003t0022a0001c0003t0023others(1): Show | a0001c0003t0002g0001a0001c0003t0002g0005a0001c0003t0002g0025others(59): Show | 70 | 330 | 0.2121 | 101 | c.132 others(118): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | ||||||
| GMEB2_chr20_63582605_63632101 | 63609276 | C | CCCCACCT others(94): Show |
intron_variant | MODIFIER | HG02897.hp2 HG03195.hp2 |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0082a0001c0004t0004g0085 | 2 | 330 | 0.0061 | 101 | c.132 others(118): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | ||||||
| GNAL_chr18_11684264_11890685 | 11716327 | T | TGGTGGGT others(94): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02886.hp1 HG02886.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0022a0001c0001t0059a0001c0001t0121others(5): Show | a0001c0001t0022g0059a0001c0001t0022g0060a0001c0001t0059g0062others(6): Show | 9 | 248 | 0.0363 | 101 | c.376 others(120): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| GP6_chr19_55008705_55043264 | 55032946 | C | CGTGTTAG others(94): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02258.hp1 HG02630.hp1 others(2): Show |
a0003a0011a0016 | a0003c0003a0011c0015a0016c0023 | a0003c0003t0003a0011c0015t0001a0016c0023t0002 | a0003c0003t0003g0314a0011c0015t0001g0106a0011c0015t0001g0315others(2): Show | 5 | 441 | 0.0113 | 101 | c.35- others(114): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 1/7 | chr19 | TogoVar | ||||||
| GP6_chr19_55008705_55043264 | 55033230 | C | CGTGTTAG others(94): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01168.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0103a0002c0004t0001g0109 | 2 | 441 | 0.0045 | 101 | c.35- others(114): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 1/7 | chr19 | TogoVar | ||||||
| GPR139_chr16_20023239_20078890 | 20041249 | A | AGGAGAGG others(94): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0333 | 1 | 364 | 0.0028 | 101 | c.128 others(118): Show |
GPR139 | ENSG00000180269.8 | transcript | ENST00000570682.2 | protein_coding | 1/1 | chr16 | TogoVar | ||||||
| GPR139_chr16_20023239_20078890 | 20041251 | G | GAGAGGAG others(94): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00733.hp2 NA19010.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001a0001c0002t0019 | a0001c0001t0003g0011a0001c0001t0003g0144a0001c0002t0001g0106others(2): Show | 5 | 364 | 0.0137 | 101 | c.128 others(118): Show |
GPR139 | ENSG00000180269.8 | transcript | ENST00000570682.2 | protein_coding | 1/1 | chr16 | TogoVar | ||||||
| GPR158_chr10_25170001_25607229 | 25241366 | T | TCCTCCCC others(94): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 162 | 0.0062 | 101 | c.100 others(122): Show |
GPR158 | ENSG00000151025.11 | transcript | ENST00000376351.4 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| GRIN3A_chr9_101564352_101743647 | 101684092 | C | CTCTTTCT others(94): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0003 | a0003c0016 | a0003c0016t0016 | a0003c0016t0016g0029 | 1 | 324 | 0.0031 | 101 | c.130 others(120): Show |
GRIN3A | ENSG00000198785.7 | transcript | ENST00000361820.6 | protein_coding | 2/8 | chr9 | TogoVar | ||||||
| GRK5_chr10_119202571_119464745 | 119394428 | A | ATCTGTGT others(94): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0089 | a0001c0001t0089g0082 | 1 | 202 | 0.0050 | 101 | c.262 others(118): Show |
GRK5 | ENSG00000198873.12 | transcript | ENST00000392870.3 | protein_coding | 3/15 | chr10 | TogoVar | ||||||
| GSE1_chr16_85608322_85681200 | 85653317 | T | TCCTCCTC others(94): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0006 | a0006c0011 | a0006c0011t0013 | a0006c0011t0013g0270 | 1 | 290 | 0.0035 | 101 | c.427 others(116): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| GTF2H5_chr6_158163350_158204344 | 158169639 | A | ATATAATA others(94): Show |
intron_variant | MODIFIER | HG03704.hp2 NA18945.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0135a0001c0001t0005g0187 | 2 | 384 | 0.0052 | 101 | c.-34 others(116): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| GXYLT2_chr3_72883046_72981915 | 72966605 | A | ATTTTTTT others(94): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 296 | 0.0034 | 101 | c.977 others(116): Show |
GXYLT2 | ENSG00000172986.13 | transcript | ENST00000389617.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| HAP1_chr17_41717640_41739643 | 41730104 | A | AAAGAAAA others(94): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0018 | a0018c0018 | a0018c0018t0001 | a0018c0018t0001g0198 | 1 | 374 | 0.0027 | 101 | c.106 others(120): Show |
HAP1 | ENSG00000173805.16 | transcript | ENST00000347901.9 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
| HAP1_chr17_41717640_41739643 | 41730109 | A | AAAGAAAA others(94): Show |
intron_variant | MODIFIER | HG02155.hp1 HG02300.hp2 NA18973.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0009a0003c0003t0001 | a0001c0001t0001g0265a0001c0001t0009g0189a0001c0001t0009g0267others(1): Show | 4 | 374 | 0.0107 | 101 | c.106 others(120): Show |
HAP1 | ENSG00000173805.16 | transcript | ENST00000347901.9 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
| HBM_chr16_160978_171764 | 164731 | C | CGGGGCGG others(94): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 | a0003 | a0003c0011 | a0003c0011t0001 | a0003c0011t0001g0001 | 1 | 370 | 0.0027 | 101 | c.-12 others(112): Show |
HBM | ENSG00000206177.7 | transcript | ENST00000356815.4 | protein_coding | 1246 | chr16 | TogoVar | ||||||
| HERC6_chr4_88373852_88448097 | 88380219 | A | AATATATA others(94): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01978.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0121a0002c0002t0001g0124 | 2 | 174 | 0.0115 | 101 | c.199 others(118): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| HGSNAT_chr8_43135464_43207855 | 43179666 | T | TCCCCCCA others(94): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 1 | 234 | 0.0043 | 101 | c.101 others(120): Show |
HGSNAT | ENSG00000165102.15 | transcript | ENST00000379644.9 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| HIGD1C_chr12_50947544_50975607 | 50948866 | G | GGGGGGAG others(94): Show |
upstream_gene_variant | MODIFIER | NA18957.hp2 NA18993.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0097a0001c0002t0001g0100 | 2 | 380 | 0.0053 | 101 | c.-39 others(112): Show |
HIGD1C | ENSG00000214511.4 | transcript | ENST00000695931.1 | protein_coding | 3677 | chr12 | TogoVar | ||||||
| HIGD1C_chr12_50947544_50975607 | 50948889 | G | GGGGAGGG others(94): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 HG01361.hp2 HG02615.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001a0001c0002t0002g0003a0001c0002t0002g0041others(3): Show | 7 | 380 | 0.0184 | 101 | c.-38 others(112): Show |
HIGD1C | ENSG00000214511.4 | transcript | ENST00000695931.1 | protein_coding | 3654 | chr12 | TogoVar | ||||||
| HIGD1C_chr12_50947544_50975607 | 50948889 | G | GGGGAGGG others(94): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG01256.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003a0001c0002t0002g0115 | 2 | 380 | 0.0053 | 101 | c.-38 others(112): Show |
HIGD1C | ENSG00000214511.4 | transcript | ENST00000695931.1 | protein_coding | 3654 | chr12 | TogoVar | ||||||
| HIVEP1_chr6_12007312_12169999 | 12168033 | T | TACATATG others(94): Show |
downstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0003 | 1 | 344 | 0.0029 | 101 | c.*35 others(112): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 3035 | chr6 | TogoVar | ||||||
| HMOX1_chr22_35376096_35399207 | 35389339 | T | TTTCTTTC others(94): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 1 | 384 | 0.0026 | 101 | c.637 others(116): Show |
HMOX1 | ENSG00000100292.18 | transcript | ENST00000216117.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| HOXC8_chr12_54003985_54017769 | 54014000 | T | TTCTCTTC others(94): Show |
downstream_gene_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0001 | 1 | 306 | 0.0033 | 101 | c.*26 others(112): Show |
HOXC8 | ENSG00000037965.6 | transcript | ENST00000040584.6 | protein_coding | 1232 | chr12 | TogoVar |