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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HERC6_chr4_88373852_88448097 | 88380096 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0007 | a0007c0011 | a0007c0011t0001 | a0007c0011t0001g0094 | 1 | 174 | 0.0058 | 15 | c.199 others(30): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HERC6_chr4_88373852_88448097 | 88380300 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG02735.hp1 HG03831.hp2 |
a0001a0002 | a0001c0008a0002c0005 | a0001c0008t0001a0002c0005t0001 | a0001c0008t0001g0075 a0002c0005t0001g0076 |
2 | 174 | 0.0115 | 15 | c.199 others(32): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HERC6_chr4_88373852_88448097 | 88380374 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02895.hp1 NA18906.hp1 others(1): Show |
a0001a0007a0008 | a0001c0001a0007c0011a0008c0009 | a0001c0001t0001a0007c0011t0001a0008c0009t0001 | a0001c0001t0001g0079 a0001c0001t0001g0171 a0007c0011t0001g0142 others(1): Show |
4 | 174 | 0.0230 | 15 | c.199 others(32): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HERPUD2_chr7_35627659_35700135 | 35691884 | T | TGATAAGA others(8): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0096 | 1 | 392 | 0.0026 | 15 | c.147 others(32): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 2/8 | chr7 | TogoVar | |||||||
HES2_chr1_6410232_6424919 | 6424707 | T | TGCGGGGC others(8): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0022 | a0001c0001t0013g0014 a0001c0001t0022g0022 |
2 | 362 | 0.0055 | 15 | c.-48 others(26): Show |
HES2 | ENSG00000069812.11 | transcript | ENST00000377834.8 | protein_coding | 4789 | chr1 | TogoVar | |||||||
HEXD_chr17_82413347_82447645 | 82433077 | G | GAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0008 | a0008c0018 | a0008c0018t0001 | a0008c0018t0001g0098 | 1 | 400 | 0.0025 | 15 | c.283 others(30): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HEXD_chr17_82413347_82447645 | 82433091 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0081 | 1 | 400 | 0.0025 | 15 | c.283 others(30): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HEXD_chr17_82413347_82447645 | 82433091 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0078 | 1 | 400 | 0.0025 | 15 | c.283 others(30): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HEXD_chr17_82413347_82447645 | 82433128 | A | ATATTTTT others(8): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0122 | 1 | 400 | 0.0025 | 15 | c.283 others(30): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HEXIM2_chr17_45156875_45175035 | 45166920 | G | GAGGCTGA others(8): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 446 | 0.0022 | 15 | c.67- others(30): Show |
HEXIM2 | ENSG00000168517.11 | transcript | ENST00000589230.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HEY1_chr8_79759010_79772767 | 79769371 | A | ATCTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG03704.hp2 HG04115.hp1 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 3 | 460 | 0.0065 | 15 | c.-17 others(26): Show |
HEY1 | ENSG00000164683.19 | transcript | ENST00000354724.8 | protein_coding | 1605 | chr8 | TogoVar | |||||||
HFM1_chr1_91255766_91409837 | 91264361 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03471.hp1 NA18522.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0004t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0286 a0001c0004t0001g0169 a0002c0003t0001g0335 others(1): Show |
4 | 362 | 0.0111 | 15 | c.397 others(34): Show |
HFM1 | ENSG00000162669.16 | transcript | ENST00000370425.8 | protein_coding | 36/38 | chr1 | TogoVar | |||||||
HFM1_chr1_91255766_91409837 | 91364632 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0036 | 1 | 362 | 0.0028 | 15 | c.168 others(36): Show |
HFM1 | ENSG00000162669.16 | transcript | ENST00000370425.8 | protein_coding | 13/38 | chr1 | TogoVar | |||||||
HFM1_chr1_91255766_91409837 | 91364632 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | NA18955.hp2 NA18969.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 a0001c0002t0001g0023 |
2 | 362 | 0.0055 | 15 | c.168 others(36): Show |
HFM1 | ENSG00000162669.16 | transcript | ENST00000370425.8 | protein_coding | 13/38 | chr1 | TogoVar | |||||||
HFM1_chr1_91255766_91409837 | 91408663 | C | CTTCTTCT others(8): Show |
upstream_gene_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296 | 1 | 362 | 0.0028 | 15 | c.-38 others(26): Show |
HFM1 | ENSG00000162669.16 | transcript | ENST00000370425.8 | protein_coding | 3827 | chr1 | TogoVar | |||||||
HGD_chr3_120623172_120687239 | 120674550 | T | TAAAACAA others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00639.hp2 others(35): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0001 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(31): Show |
38 | 374 | 0.1016 | 15 | c.176 others(30): Show |
HGD | ENSG00000113924.12 | transcript | ENST00000283871.10 | protein_coding | 3/13 | chr3 | TogoVar | |||||||
HGF_chr7_81694010_81775047 | 81736894 | G | GTGTGTGT others(8): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 272 | 0.0037 | 15 | c.865 others(32): Show |
HGF | ENSG00000019991.18 | transcript | ENST00000222390.11 | protein_coding | 7/17 | chr7 | TogoVar | |||||||
HHAT_chr1_210323902_210681290 | 210334178 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01884.hp1 NA18973.hp1 NA19010.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0007a0002c0003t0001a0002c0003t0004 | a0001c0001t0007g0074 a0002c0003t0001g0120 a0002c0003t0001g0121 others(1): Show |
4 | 268 | 0.0149 | 15 | c.-44 others(32): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210336287 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0104 | 1 | 268 | 0.0037 | 15 | c.-44 others(32): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210386222 | C | CTTTTTTC others(8): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0084 | 1 | 268 | 0.0037 | 15 | c.160 others(32): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210386230 | C | CTTTCTTT others(8): Show |
intron_variant | MODIFIER | HG02602.hp2 HG03704.hp2 NA19007.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0006t0002others(1): Show | a0001c0001t0001g0173 a0001c0001t0003g0172 a0001c0006t0002g0174 others(1): Show |
4 | 268 | 0.0149 | 15 | c.160 others(32): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210386230 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03453.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0023 | a0001c0001t0002g0078 a0001c0001t0023g0077 |
2 | 268 | 0.0075 | 15 | c.160 others(32): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210494542 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02486.hp1 HG03491.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0004 | a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0004g0182 others(1): Show |
4 | 268 | 0.0149 | 15 | c.100 others(36): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210569373 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01109.hp2 HG01975.hp2 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0106 a0001c0001t0001g0221 a0001c0001t0002g0168 others(8): Show |
11 | 268 | 0.0410 | 15 | c.104 others(36): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHIPL1_chr14_99640129_99685569 | 99646827 | G | GATATAAT others(8): Show |
intron_variant | MODIFIER | HG03492.hp2 NA18954.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0003a0002c0001t0001 | a0001c0002t0003g0254 a0002c0001t0001g0255 |
2 | 374 | 0.0054 | 15 | c.255 others(32): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
HHIPL1_chr14_99640129_99685569 | 99646832 | G | GATATAAT others(8): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0298 | 1 | 374 | 0.0027 | 15 | c.255 others(32): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
HHIPL1_chr14_99640129_99685569 | 99646867 | A | AATATAAT others(8): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0297 | 1 | 374 | 0.0027 | 15 | c.255 others(32): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
HHIPL1_chr14_99640129_99685569 | 99653329 | T | TTTTTGTT others(8): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00544.hp2 others(68): Show |
a0001a0002a0008 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0014others(11): Show | a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0020 others(67): Show |
71 | 374 | 0.1898 | 15 | c.902 others(30): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
HHIP_chr4_144641156_144750271 | 144707646 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02055.hp1 HG02055.hp2 others(22): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0268 a0001c0001t0002g0018 a0001c0001t0002g0034 others(22): Show |
25 | 316 | 0.0791 | 15 | c.115 others(32): Show |
HHIP | ENSG00000164161.10 | transcript | ENST00000296575.8 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HHLA1_chr8_132056480_132116157 | 132070011 | C | CGGGGGGG others(8): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00642.hp1 HG00735.hp2 others(19): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0022a0001c0005t0001others(5): Show | a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0212 others(19): Show |
22 | 380 | 0.0579 | 15 | c.146 others(34): Show |
HHLA1 | ENSG00000132297.13 | transcript | ENST00000414222.2 | protein_coding | 15/16 | chr8 | TogoVar | |||||||
HHLA1_chr8_132056480_132116157 | 132070028 | G | GGGGTGGG others(8): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0009 | a0001c0009t0008 | a0001c0009t0008g0340 | 1 | 380 | 0.0026 | 15 | c.146 others(34): Show |
HHLA1 | ENSG00000132297.13 | transcript | ENST00000414222.2 | protein_coding | 15/16 | chr8 | TogoVar | |||||||
HHLA1_chr8_132056480_132116157 | 132070028 | G | GGGTGGGG others(8): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0260 | 1 | 380 | 0.0026 | 15 | c.146 others(34): Show |
HHLA1 | ENSG00000132297.13 | transcript | ENST00000414222.2 | protein_coding | 15/16 | chr8 | TogoVar | |||||||
HIBADH_chr7_27520442_27667883 | 27527917 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02293.hp2 HG02602.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0120 a0001c0001t0003g0125 a0001c0001t0003g0129 others(4): Show |
7 | 326 | 0.0215 | 15 | c.853 others(32): Show |
HIBADH | ENSG00000106049.9 | transcript | ENST00000265395.7 | protein_coding | 7/7 | chr7 | TogoVar | |||||||
HIBADH_chr7_27520442_27667883 | 27527942 | T | TTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02622.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 |
3 | 326 | 0.0092 | 15 | c.853 others(32): Show |
HIBADH | ENSG00000106049.9 | transcript | ENST00000265395.7 | protein_coding | 7/7 | chr7 | TogoVar | |||||||
HIBADH_chr7_27520442_27667883 | 27572864 | A | ATACACAA others(8): Show |
intron_variant | MODIFIER | NA18948.hp1 NA18959.hp1 NA19067.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0228 a0001c0002t0001g0262 a0001c0002t0001g0305 others(1): Show |
4 | 326 | 0.0123 | 15 | c.485 others(34): Show |
HIBADH | ENSG00000106049.9 | transcript | ENST00000265395.7 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
HIBADH_chr7_27520442_27667883 | 27645368 | A | ATGTTTTT others(8): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 326 | 0.0031 | 15 | c.252 others(32): Show |
HIBADH | ENSG00000106049.9 | transcript | ENST00000265395.7 | protein_coding | 2/7 | chr7 | TogoVar | |||||||
HIBCH_chr2_190198920_190324826 | 190285663 | C | CCTACCTA others(8): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02280.hp1 HG06807.hp1 |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0021a0005c0006t0012 | a0001c0001t0021g0357 a0005c0006t0012g0355 a0005c0006t0012g0356 |
3 | 368 | 0.0082 | 15 | c.438 others(32): Show |
HIBCH | ENSG00000198130.16 | transcript | ENST00000359678.10 | protein_coding | 6/13 | chr2 | TogoVar | |||||||
HIC1_chr17_2050103_2068241 | 2066646 | T | TCCAGACA others(8): Show |
downstream_gene_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0001 | 1 | 414 | 0.0024 | 15 | c.*78 others(26): Show |
HIC1 | ENSG00000177374.13 | transcript | ENST00000619757.5 | protein_coding | 3406 | chr17 | TogoVar | |||||||
HIC2_chr22_21412371_21456463 | 21425165 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG00741.hp2 others(45): Show |
a0001a0005a0006 | a0001c0001a0001c0005a0005c0011others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0002 a0001c0001t0001g0091 a0001c0001t0001g0110 others(37): Show |
48 | 288 | 0.1667 | 15 | c.-74 others(32): Show |
HIC2 | ENSG00000169635.10 | transcript | ENST00000407464.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
HIF1A_chr14_61690513_61753258 | 61724381 | C | CTCTCTCT others(8): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 322 | 0.0031 | 15 | c.458 others(32): Show |
HIF1A | ENSG00000100644.17 | transcript | ENST00000337138.9 | protein_coding | 4/14 | chr14 | TogoVar | |||||||
HIF1A_chr14_61690513_61753258 | 61746389 | C | CTACTTTT others(8): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 322 | 0.0031 | 15 | c.233 others(32): Show |
HIF1A | ENSG00000100644.17 | transcript | ENST00000337138.9 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
HIF3A_chr19_46292042_46348433 | 46293851 | C | CAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 HG02027.hp1 HG03225.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0017a0002c0002 | a0001c0001t0004a0001c0001t0007a0001c0017t0001others(2): Show | a0001c0001t0004g0025 a0001c0001t0007g0024 a0001c0017t0001g0059 others(5): Show |
8 | 418 | 0.0191 | 15 | c.-32 others(26): Show |
HIF3A | ENSG00000124440.16 | transcript | ENST00000377670.9 | protein_coding | 3190 | chr19 | TogoVar | |||||||
HIF3A_chr19_46292042_46348433 | 46295482 | C | CAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02615.hp2 HG02886.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0021 | a0001c0001t0008a0003c0021t0004 | a0001c0001t0008g0158 a0001c0001t0008g0159 a0001c0001t0008g0378 others(1): Show |
4 | 418 | 0.0096 | 15 | c.-15 others(26): Show |
HIF3A | ENSG00000124440.16 | transcript | ENST00000377670.9 | protein_coding | 1559 | chr19 | TogoVar | |||||||
HIGD1B_chr17_44842883_44855476 | 44849758 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0028 | 1 | 416 | 0.0024 | 15 | c.235 others(30): Show |
HIGD1B | ENSG00000131097.7 | transcript | ENST00000253410.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HIGD1C_chr12_50947544_50975607 | 50957968 | G | GTGTGTGT others(8): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0060 | 1 | 380 | 0.0026 | 15 | c.95- others(30): Show |
HIGD1C | ENSG00000214511.4 | transcript | ENST00000695931.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
HIGD2B_chr15_72670798_72691182 | 72687124 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG01361.hp1 HG01891.hp2 HG01978.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(4): Show |
10 | 436 | 0.0229 | 15 | c.-15 others(26): Show |
HIGD2B | ENSG00000175202.6 | transcript | ENST00000311755.6 | protein_coding | 943 | chr15 | TogoVar | |||||||
HIGD2B_chr15_72670798_72691182 | 72688411 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 NA18954.hp1 NA19072.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0033 a0001c0001t0001g0076 |
3 | 436 | 0.0069 | 15 | c.-28 others(26): Show |
HIGD2B | ENSG00000175202.6 | transcript | ENST00000311755.6 | protein_coding | 2230 | chr15 | TogoVar | |||||||
HINFP_chr11_119116580_119141059 | 119129490 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0166 | 1 | 404 | 0.0025 | 15 | c.182 others(32): Show |
HINFP | ENSG00000172273.13 | transcript | ENST00000350777.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HIP1R_chr12_122830457_122867961 | 122834335 | G | GGGAAAGG others(8): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0149 | 1 | 348 | 0.0029 | 15 | c.-12 others(26): Show |
HIP1R | ENSG00000130787.14 | transcript | ENST00000253083.9 | protein_coding | 1121 | chr12 | TogoVar | |||||||
HIP1_chr7_75528298_75743941 | 75551189 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02886.hp2 HG03209.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0007a0003c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0122 a0001c0001t0003g0057 a0001c0001t0004g0019 others(5): Show |
8 | 254 | 0.0315 | 15 | c.229 others(34): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 22/30 | chr7 | TogoVar |