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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
H3C2_chr6_26026589_26037099 | 26031178 | A | ATATATAT others(2): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 NA18940.hp1 NA18947.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 9 | 363 | 0.0248 | 9 | c.*47 others(18): Show |
H3C2 | ENSG00000286522.2 | transcript | ENST00000621411.3 | protein_coding | 410 | chr6 | TogoVar | |||||||
H4C14_chr1_149827657_149838052 | 149827857 | C | CTTTCTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00438.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 38 | 137 | 0.2774 | 9 | c.-48 others(20): Show |
H4C14 | ENSG00000270882.3 | transcript | ENST00000578186.3 | protein_coding | 4799 | chr1 | TogoVar | |||||||
H4C2_chr6_26021896_26032283 | 26031178 | A | ATATATAT others(2): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 NA18940.hp2 NA18947.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 10 | 366 | 0.0273 | 9 | c.-39 others(20): Show |
H4C2 | ENSG00000278705.3 | transcript | ENST00000377745.5 | protein_coding | 3896 | chr6 | TogoVar | |||||||
HAAO_chr2_42762089_42797583 | 42765676 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00738.hp2 HG01175.hp2 others(20): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0009a0002c0002t0001others(2): Show | a0001c0001t0001g0194 a0001c0001t0001g0208 a0001c0001t0009g0172 others(20): Show |
23 | 239 | 0.0962 | 9 | c.*17 others(20): Show |
HAAO | ENSG00000162882.15 | transcript | ENST00000294973.11 | protein_coding | 1412 | chr2 | TogoVar | |||||||
HAAO_chr2_42762089_42797583 | 42765685 | A | AAAACAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG02280.hp2 HG02622.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0001g0217 others(4): Show |
7 | 406 | 0.0172 | 9 | c.*17 others(20): Show |
HAAO | ENSG00000162882.15 | transcript | ENST00000294973.11 | protein_coding | 1403 | chr2 | TogoVar | |||||||
HAAO_chr2_42762089_42797583 | 42766818 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG02027.hp2 HG02074.hp1 HG02895.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0026 a0001c0001t0001g0262 a0001c0001t0001g0265 others(12): Show |
16 | 94 | 0.1702 | 9 | c.*61 others(18): Show |
HAAO | ENSG00000162882.15 | transcript | ENST00000294973.11 | protein_coding | 270 | chr2 | TogoVar | |||||||
HAAO_chr2_42762089_42797583 | 42791923 | G | GTGTGTGT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00673.hp1 others(30): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0024 a0001c0001t0001g0186 a0001c0001t0001g0187 others(28): Show |
33 | 97 | 0.3402 | 9 | c.80+ others(22): Show |
HAAO | ENSG00000162882.15 | transcript | ENST00000294973.11 | protein_coding | 1/9 | chr2 | TogoVar | |||||||
HABP4_chr9_96445169_96496336 | 96475390 | C | CAACAAAA others(2): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02486.hp1 HG02717.hp2 others(7): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0011 a0001c0003t0003g0042 a0001c0003t0003g0043 others(6): Show |
10 | 228 | 0.0439 | 9 | c.827 others(26): Show |
HABP4 | ENSG00000130956.14 | transcript | ENST00000375249.5 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
HACE1_chr6_104723094_104864919 | 104790900 | A | AATTTAAC others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01074.hp2 HG01081.hp2 others(49): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0002t0008others(1): Show | a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0002t0001g0079 others(49): Show |
52 | 344 | 0.1512 | 9 | c.107 others(26): Show |
HACE1 | ENSG00000085382.12 | transcript | ENST00000262903.9 | protein_coding | 11/23 | chr6 | TogoVar | |||||||
HACL1_chr3_15555699_15606569 | 15592072 | A | ATACACAC others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00597.hp1 others(96): Show |
a0001a0006 | a0001c0001a0001c0004a0001c0013others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0013t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(81): Show |
99 | 426 | 0.2324 | 9 | c.228 others(24): Show |
HACL1 | ENSG00000131373.15 | transcript | ENST00000321169.10 | protein_coding | 3/16 | chr3 | TogoVar | |||||||
HADHB_chr2_26239939_26295465 | 26265597 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG01069.hp1 others(45): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0006 | a0001c0003t0001g0004 a0001c0003t0001g0007 a0001c0003t0001g0008 others(39): Show |
48 | 268 | 0.1791 | 9 | c.209 others(26): Show |
HADHB | ENSG00000138029.14 | transcript | ENST00000317799.10 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HADHB_chr2_26239939_26295465 | 26285739 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01175.hp1 HG02055.hp2 others(9): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0006 | a0001c0003t0001g0028 a0001c0003t0001g0030 a0001c0003t0001g0034 others(9): Show |
12 | 108 | 0.1111 | 9 | c.138 others(26): Show |
HADHB | ENSG00000138029.14 | transcript | ENST00000317799.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAO1_chr20_7877985_7945458 | 7924194 | G | GTGTTGTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00597.hp1 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0062 a0001c0001t0001g0134 a0001c0001t0001g0137 others(42): Show |
46 | 187 | 0.2460 | 9 | c.290 others(26): Show |
HAO1 | ENSG00000101323.5 | transcript | ENST00000378789.4 | protein_coding | 2/7 | chr20 | TogoVar | |||||||
HAO1_chr20_7877985_7945458 | 7924194 | G | GTGTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00673.hp1 others(52): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0026 others(50): Show |
55 | 196 | 0.2806 | 9 | c.290 others(26): Show |
HAO1 | ENSG00000101323.5 | transcript | ENST00000378789.4 | protein_coding | 2/7 | chr20 | TogoVar | |||||||
HAP1_chr17_41717640_41739643 | 41729549 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG01069.hp2 others(30): Show |
a0002a0008a0010others(5): Show | a0002c0002a0008c0008a0010c0010others(5): Show | a0002c0002t0001a0002c0002t0017a0002c0002t0019others(7): Show | a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0024 others(28): Show |
33 | 64 | 0.5156 | 9 | c.107 others(28): Show |
HAP1 | ENSG00000173805.16 | transcript | ENST00000347901.9 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
HAP1_chr17_41717640_41739643 | 41730054 | A | AGAGAGAG others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00438.hp1 others(53): Show |
a0002a0008a0013others(2): Show | a0002c0002a0008c0008a0013c0014others(2): Show | a0002c0002t0001a0002c0002t0017a0002c0002t0020others(5): Show | a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0023 others(51): Show |
56 | 343 | 0.1633 | 9 | c.106 others(28): Show |
HAP1 | ENSG00000173805.16 | transcript | ENST00000347901.9 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
HAPLN3_chr15_88872294_88900544 | 88890011 | A | AGGGAGGA others(2): Show |
intron_variant | MODIFIER | NA18944.hp1 NA18980.hp2 NA19005.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0012 | 5 | 434 | 0.0115 | 9 | c.-47 others(26): Show |
HAPLN3 | ENSG00000140511.12 | transcript | ENST00000359595.8 | protein_coding | 1/4 | chr15 | TogoVar | |||||||
HAPSTR1_chr16_9086644_9126635 | 9091265 | G | GGGTGGGG others(2): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG01884.hp1 others(45): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(14): Show | a0001c0001t0004g0048 a0001c0001t0004g0195 a0001c0001t0006g0013 others(38): Show |
48 | 341 | 0.1408 | 9 | c.-78 others(18): Show |
HAPSTR1 | ENSG00000182831.12 | transcript | ENST00000327827.12 | protein_coding | 378 | chr16 | TogoVar | |||||||
HARBI1_chr11_46597861_46622227 | 46619372 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01257.hp1 HG01515.hp1 HG02559.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0060 a0001c0001t0001g0061 others(5): Show |
10 | 149 | 0.0671 | 9 | c.-24 others(20): Show |
HARBI1 | ENSG00000180423.4 | transcript | ENST00000326737.3 | protein_coding | 2146 | chr11 | TogoVar | |||||||
HARS1_chr5_140668905_140696370 | 140695426 | C | CAGTTGAT others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(184): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(74): Show |
187 | 380 | 0.4921 | 9 | c.-41 others(20): Show |
HARS1 | ENSG00000170445.16 | transcript | ENST00000504156.7 | protein_coding | 4057 | chr5 | TogoVar | |||||||
HARS2_chr5_140686455_140704305 | 140695426 | C | CAGTTGAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(183): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(35): Show |
186 | 380 | 0.4895 | 9 | c.400 others(22): Show |
HARS2 | ENSG00000112855.17 | transcript | ENST00000230771.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
HAS1_chr19_51708112_51728991 | 51714698 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02717.hp2 HG02895.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0023others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0087 a0001c0001t0002g0080 a0001c0001t0002g0219 others(5): Show |
8 | 76 | 0.1053 | 9 | c.105 others(26): Show |
HAS1 | ENSG00000105509.11 | transcript | ENST00000540069.7 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
HAS2_chr8_121607116_121646440 | 121609123 | G | GTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG01071.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(11): Show | a0001c0001t0001g0011 a0001c0001t0001g0082 a0001c0001t0001g0092 others(20): Show |
25 | 90 | 0.2778 | 9 | c.*49 others(20): Show |
HAS2 | ENSG00000170961.7 | transcript | ENST00000303924.5 | protein_coding | 2992 | chr8 | TogoVar | |||||||
HAS2_chr8_121607116_121646440 | 121642847 | C | CCACCGCC others(2): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 HG02622.hp1 HG02809.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0019 | a0001c0001t0007g0054 a0001c0001t0007g0055 a0001c0001t0019g0047 others(2): Show |
5 | 298 | 0.0168 | 9 | c.-19 others(20): Show |
HAS2 | ENSG00000170961.7 | transcript | ENST00000303924.5 | protein_coding | 1408 | chr8 | TogoVar | |||||||
HAT1_chr2_171917461_171988686 | 171917615 | G | GTGAAATA others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG01099.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0219 others(20): Show |
23 | 324 | 0.0710 | 9 | c.-48 others(20): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 4845 | chr2 | TogoVar | |||||||
HAT1_chr2_171917461_171988686 | 171938075 | T | TCTCTCTC others(2): Show |
intron_variant | MODIFIER | NA18747.hp1 NA18960.hp2 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 a0001c0001t0001g0194 a0001c0001t0001g0260 |
3 | 304 | 0.0099 | 9 | c.113 others(26): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
HAT1_chr2_171917461_171988686 | 171953626 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00558.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0148 a0001c0001t0001g0149 others(28): Show |
32 | 36 | 0.8889 | 9 | c.309 others(24): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171977557 | A | ATATATTT others(2): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02735.hp1 NA18968.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0030 others(3): Show |
6 | 156 | 0.0385 | 9 | c.975 others(26): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42544836 | C | CTATATAT others(2): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 HG02109.hp1 HG02280.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0004 a0001c0002t0004g0298 a0001c0002t0004g0299 others(5): Show |
11 | 340 | 0.0324 | 9 | c.-40 others(20): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 4001 | chr15 | TogoVar | |||||||
HAUS4_chr14_22941228_22962090 | 22960464 | C | CTACTAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02970.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0027 a0001c0001t0003g0070 a0001c0001t0003g0074 |
4 | 316 | 0.0127 | 9 | c.-35 others(20): Show |
HAUS4 | ENSG00000092036.19 | transcript | ENST00000541587.6 | protein_coding | 3375 | chr14 | TogoVar | |||||||
HAUS8_chr19_17044729_17080452 | 17075767 | A | AGCGGCGG others(2): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02451.hp1 HG02559.hp1 others(1): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0002 | a0001c0003t0002g0011 a0001c0004t0002g0124 |
4 | 398 | 0.0101 | 9 | c.-34 others(18): Show |
HAUS8 | ENSG00000131351.15 | transcript | ENST00000253669.10 | protein_coding | 316 | chr19 | TogoVar | |||||||
HAVCR2_chr5_157080832_157114044 | 157092878 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01070.hp2 HG01071.hp2 others(12): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0003c0003t0001 | a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0033 others(10): Show |
15 | 58 | 0.2586 | 9 | c.676 others(26): Show |
HAVCR2 | ENSG00000135077.10 | transcript | ENST00000307851.9 | protein_coding | 5/6 | chr5 | TogoVar | |||||||
HAX1_chr1_154267629_154280875 | 154267880 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 HG02145.hp2 HG03491.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0002g0002 a0001c0001t0002g0004 |
6 | 163 | 0.0368 | 9 | c.-48 others(20): Show |
HAX1 | ENSG00000143575.16 | transcript | ENST00000328703.12 | protein_coding | 4748 | chr1 | TogoVar | |||||||
HBM_chr16_160978_171764 | 164731 | C | CGGGGTCG others(2): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG00673.hp1 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 |
51 | 112 | 0.4554 | 9 | c.-12 others(20): Show |
HBM | ENSG00000206177.7 | transcript | ENST00000356815.4 | protein_coding | 1246 | chr16 | TogoVar | |||||||
HBM_chr16_160978_171764 | 164771 | T | TCGCGGGG others(2): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 261 | 0.0153 | 9 | c.-12 others(20): Show |
HBM | ENSG00000206177.7 | transcript | ENST00000356815.4 | protein_coding | 1206 | chr16 | TogoVar | |||||||
HBZ_chr16_147644_159503 | 154177 | G | GGCGGGGG others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG01106.hp1 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0004 a0001c0001t0001g0029 a0001c0001t0003g0007 others(2): Show |
50 | 228 | 0.2193 | 9 | c.300 others(22): Show |
HBZ | ENSG00000130656.6 | transcript | ENST00000252951.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HCAR2_chr12_122696293_122708357 | 122704416 | A | ATTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 HG02486.hp2 HG02559.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0000 a0001c0001t0003g0000 |
20 | 201 | 0.0995 | 9 | c.-11 others(20): Show |
HCAR2 | ENSG00000182782.8 | transcript | ENST00000328880.6 | protein_coding | 1060 | chr12 | TogoVar | |||||||
HCK_chr20_32047242_32106856 | 32066331 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01168.hp1 HG01981.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0079 a0001c0001t0001g0117 others(6): Show |
9 | 61 | 0.1475 | 9 | c.63- others(24): Show |
HCK | ENSG00000101336.18 | transcript | ENST00000375852.5 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
HCN1_chr5_45249948_45701380 | 45593644 | C | CATTATTA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00438.hp1 others(59): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0037 a0001c0001t0001g0085 a0001c0001t0001g0091 others(59): Show |
62 | 64 | 0.9688 | 9 | c.849 others(28): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 2/7 | chr5 | TogoVar | |||||||
HCN2_chr19_584881_622159 | 586285 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00558.hp1 others(150): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(48): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(82): Show | a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 others(148): Show |
153 | 272 | 0.5625 | 9 | c.-36 others(20): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 3595 | chr19 | TogoVar | |||||||
HCN2_chr19_584881_622159 | 615946 | C | CCCGCCGC others(2): Show |
disruptive_inframe_insertion | MODERATE | HG02080.hp2 HG03927.hp2 NA19074.hp2 |
a0008a0012 | a0008c0095a0008c0106a0012c0061 | a0008c0095t0001a0008c0106t0002a0012c0061t0001 | a0008c0095t0001g0211 a0008c0106t0002g0188 a0012c0061t0001g0359 |
3 | 402 | 0.0075 | 9 | c.215 others(18): Show |
p.Pro others(13): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 8/8 | 2230/3420 | 2165/2670 | 722/889 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
HCN3_chr1_155272463_155294848 | 155292241 | G | GAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(159): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(67): Show |
162 | 323 | 0.5015 | 9 | c.*37 others(20): Show |
HCN3 | ENSG00000143630.10 | transcript | ENST00000368358.4 | protein_coding | 2394 | chr1 | TogoVar | |||||||
HCRTR1_chr1_31612689_31632613 | 31624448 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02818.hp1 HG03041.hp1 others(6): Show |
a0002a0003 | a0002c0003a0003c0005 | a0002c0003t0003a0003c0005t0003 | a0002c0003t0003g0013 a0002c0003t0003g0067 a0003c0005t0003g0009 others(1): Show |
9 | 14 | 0.6429 | 9 | c.966 others(24): Show |
HCRTR1 | ENSG00000121764.12 | transcript | ENST00000403528.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HDAC11_chr3_13475306_13511416 | 13510462 | C | CTTTTCTT others(2): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 NA18942.hp2 NA18959.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0172 a0001c0001t0001g0202 a0001c0001t0001g0316 others(3): Show |
6 | 77 | 0.0779 | 9 | c.*57 others(20): Show |
HDAC11 | ENSG00000163517.15 | transcript | ENST00000295757.8 | protein_coding | 4047 | chr3 | TogoVar | |||||||
HDAC11_chr3_13475306_13511416 | 13510463 | T | TTTTCTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG00741.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0019a0001c0002t0001 | a0001c0001t0001g0059 a0001c0001t0001g0068 a0001c0001t0001g0071 others(32): Show |
35 | 409 | 0.0856 | 9 | c.*57 others(20): Show |
HDAC11 | ENSG00000163517.15 | transcript | ENST00000295757.8 | protein_coding | 4048 | chr3 | TogoVar | |||||||
HDAC2_chr6_113928028_113976148 | 113930788 | C | CTCTCTCT others(2): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG01346.hp2 HG02602.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0023 | a0001c0001t0004g0004 a0001c0001t0004g0029 a0001c0001t0023g0090 |
5 | 369 | 0.0136 | 9 | c.*10 others(22): Show |
HDAC2 | ENSG00000196591.12 | transcript | ENST00000519065.6 | protein_coding | 2239 | chr6 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239220407 | A | AAATTAAA others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG02818.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(1): Show | a0001c0001t0001g0231 a0001c0001t0004g0232 a0001c0001t0010g0126 others(1): Show |
4 | 240 | 0.0167 | 9 | c.94+ others(26): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 3/26 | chr2 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239294712 | T | TGCCTCGG others(2): Show |
intron_variant | MODIFIER | HG04199.hp2 HG04228.hp2 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 |
3 | 236 | 0.0127 | 9 | c.22+ others(26): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 2/26 | chr2 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239385507 | G | GCTAGAGC others(2): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01167.hp2 HG01169.hp1 others(5): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0003a0001c0003t0005a0001c0003t0010others(2): Show | a0001c0003t0003g0070 a0001c0003t0005g0081 a0001c0003t0010g0071 others(5): Show |
8 | 240 | 0.0333 | 9 | c.-22 others(30): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 1/26 | chr2 | TogoVar | |||||||
HDAC8_chrX_72324516_72577843 | 72396838 | T | TAACAACA others(2): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02451.hp1 HG02647.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0090 a0001c0001t0001g0098 a0001c0001t0001g0196 others(13): Show |
16 | 193 | 0.0829 | 9 | c.100 others(30): Show |
HDAC8 | ENSG00000147099.21 | transcript | ENST00000373573.9 | protein_coding | 9/10 | chrX | TogoVar |