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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HAPSTR1_chr16_9086644_9126635 | 9088603 | C | CAAAAAAA others(19): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0081 | a0001c0001t0081g0098 | 1 | 398 | 0.0025 | 26 | c.-34 others(37): Show |
HAPSTR1 | ENSG00000182831.12 | transcript | ENST00000327827.12 | protein_coding | 3040 | chr16 | TogoVar | |||||||
HASPIN_chr17_3718903_3731699 | 3730454 | A | AAAAAAAA others(19): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG01070.hp1 HG01071.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 5 | 414 | 0.0121 | 26 | c.*41 others(37): Show |
HASPIN | ENSG00000177602.5 | transcript | ENST00000325418.5 | protein_coding | 3756 | chr17 | TogoVar | |||||||
HAT1_chr2_171917461_171988686 | 171953626 | T | TAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 326 | 0.0031 | 26 | c.309 others(41): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171977557 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 326 | 0.0031 | 26 | c.975 others(43): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42544842 | C | CTATATAT others(19): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0294 | 1 | 350 | 0.0029 | 26 | c.-40 others(37): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 3995 | chr15 | TogoVar | |||||||
HAVCR1_chr5_157024413_157064116 | 157044575 | C | CAAGGAAA others(19): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03453.hp1 |
a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0341 a0005c0008t0001g0342 |
2 | 352 | 0.0057 | 26 | c.782 others(43): Show |
HAVCR1 | ENSG00000113249.14 | transcript | ENST00000523175.6 | protein_coding | 5/8 | chr5 | TogoVar | |||||||
HAVCR1_chr5_157024413_157064116 | 157044615 | G | GAGAAAGA others(19): Show |
intron_variant | MODIFIER | HG03927.hp1 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 a0001c0001t0001g0114 |
2 | 352 | 0.0057 | 26 | c.782 others(43): Show |
HAVCR1 | ENSG00000113249.14 | transcript | ENST00000523175.6 | protein_coding | 5/8 | chr5 | TogoVar | |||||||
HAX1_chr1_154267629_154280875 | 154277309 | A | AATATATA others(19): Show |
downstream_gene_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG01517.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 a0001c0002t0001g0004 |
3 | 392 | 0.0077 | 26 | c.*16 others(37): Show |
HAX1 | ENSG00000143575.16 | transcript | ENST00000328703.12 | protein_coding | 1435 | chr1 | TogoVar | |||||||
HBA1_chr16_171680_182522 | 181982 | C | CCACACAC others(19): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG00609.hp2 others(76): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 |
79 | 398 | 0.1985 | 26 | c.*45 others(37): Show |
HBA1 | ENSG00000206172.8 | transcript | ENST00000320868.9 | protein_coding | 4461 | chr16 | TogoVar | |||||||
HBM_chr16_160978_171764 | 164800 | G | GGCGGGGT others(19): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG02630.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 6 | 370 | 0.0162 | 26 | c.-11 others(37): Show |
HBM | ENSG00000206177.7 | transcript | ENST00000356815.4 | protein_coding | 1177 | chr16 | TogoVar | |||||||
HBM_chr16_160978_171764 | 164943 | C | CGGGGCGG others(19): Show |
upstream_gene_variant | MODIFIER | HG01361.hp1 HG02015.hp1 HG02056.hp1 others(11): Show |
a0001a0007 | a0001c0001a0007c0011 | a0001c0001t0001a0001c0001t0002a0007c0011t0002 | a0001c0001t0001g0001 a0001c0001t0002g0001 a0007c0011t0002g0001 |
14 | 370 | 0.0378 | 26 | c.-10 others(37): Show |
HBM | ENSG00000206177.7 | transcript | ENST00000356815.4 | protein_coding | 1034 | chr16 | TogoVar | |||||||
HBQ1_chr16_175459_186179 | 181982 | C | CCACACAC others(19): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG00609.hp2 others(68): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0002g0001 others(5): Show |
71 | 384 | 0.1849 | 26 | c.*87 others(35): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 804 | chr16 | TogoVar | |||||||
HBS1L_chr6_134955378_135059822 | 134961788 | C | CACCCATA others(19): Show |
3_prime_UTR_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0027 | 1 | 348 | 0.0029 | 26 | c.*34 others(37): Show |
HBS1L | ENSG00000112339.15 | transcript | ENST00000367837.10 | protein_coding | 18/18 | 3490 | chr6 | TogoVar | ||||||
HBZ_chr16_147644_159503 | 154167 | G | GGCGGGGC others(19): Show |
intron_variant | MODIFIER | HG02622.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018 | 2 | 432 | 0.0046 | 26 | c.300 others(39): 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(19): Show |
upstream_gene_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 428 | 0.0023 | 26 | c.-11 others(37): Show |
HCAR2 | ENSG00000182782.8 | transcript | ENST00000328880.6 | protein_coding | 1060 | chr12 | TogoVar | |||||||
HCAR3_chr12_122709756_122721811 | 122710063 | G | GGCTCACG others(19): Show |
downstream_gene_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 424 | 0.0024 | 26 | c.*55 others(37): Show |
HCAR3 | ENSG00000255398.3 | transcript | ENST00000528880.3 | protein_coding | 4692 | chr12 | TogoVar | |||||||
HCFC1_chrX_153942557_153976818 | 153971930 | G | GGCCCAAG others(19): Show |
upstream_gene_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 268 | 0.0037 | 26 | c.-10 others(37): Show |
HCFC1 | ENSG00000172534.14 | transcript | ENST00000310441.12 | protein_coding | 113 | chrX | TogoVar | |||||||
HCN1_chr5_45249948_45701380 | 45372469 | T | TAAAAATA others(19): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0030 | 1 | 226 | 0.0044 | 26 | c.123 others(47): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
HCN1_chr5_45249948_45701380 | 45372613 | T | TACATATA others(19): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(51): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0011 a0001c0001t0001g0034 a0001c0001t0001g0065 others(51): Show |
54 | 226 | 0.2389 | 26 | c.123 others(47): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
HCN1_chr5_45249948_45701380 | 45682276 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0128 | 1 | 226 | 0.0044 | 26 | c.425 others(45): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 1/7 | chr5 | TogoVar | |||||||
HCN2_chr19_584881_622159 | 612427 | T | TGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0019 | a0001c0019t0021 | a0001c0019t0021g0058 | 1 | 408 | 0.0025 | 26 | c.158 others(43): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 612427 | T | TGTGTGTG others(19): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0090 | 1 | 408 | 0.0025 | 26 | c.158 others(43): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HCN4_chr15_73314859_73373958 | 73316252 | A | AATATATA others(19): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00621.hp2 HG00639.hp2 others(29): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0009others(5): Show | a0001c0001t0002a0001c0001t0016a0001c0001t0026others(8): Show | a0001c0001t0002g0002 a0001c0001t0002g0022 a0001c0001t0002g0024 others(27): Show |
32 | 344 | 0.0930 | 26 | c.*62 others(37): Show |
HCN4 | ENSG00000138622.4 | transcript | ENST00000261917.4 | protein_coding | 3606 | chr15 | TogoVar | |||||||
HCN4_chr15_73314859_73373958 | 73373717 | G | GAAAGAAA others(19): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0288 | 1 | 344 | 0.0029 | 26 | c.-54 others(37): Show |
HCN4 | ENSG00000138622.4 | transcript | ENST00000261917.4 | protein_coding | 4760 | chr15 | TogoVar | |||||||
HCRTR2_chr6_55169515_55287617 | 55241861 | A | ATTTTTTT others(19): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0183 | 1 | 368 | 0.0027 | 26 | c.224 others(43): Show |
HCRTR2 | ENSG00000137252.10 | transcript | ENST00000370862.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HCRTR2_chr6_55169515_55287617 | 55245469 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 1 | 368 | 0.0027 | 26 | c.224 others(43): Show |
HCRTR2 | ENSG00000137252.10 | transcript | ENST00000370862.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HCRTR2_chr6_55169515_55287617 | 55245490 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0358 | 1 | 368 | 0.0027 | 26 | c.224 others(43): Show |
HCRTR2 | ENSG00000137252.10 | transcript | ENST00000370862.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HDAC2_chr6_113928028_113976148 | 113930737 | T | TCTCTCTC others(19): Show |
downstream_gene_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0018 | 1 | 402 | 0.0025 | 26 | c.*10 others(39): Show |
HDAC2 | ENSG00000196591.12 | transcript | ENST00000519065.6 | protein_coding | 2290 | chr6 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239232736 | C | CCCCTCAC others(19): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02895.hp1 HG03130.hp2 |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0004t0071a0001c0005t0007 | a0001c0001t0001g0025 a0001c0004t0071g0022 a0001c0005t0007g0032 |
3 | 242 | 0.0124 | 26 | c.94+ others(41): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 3/26 | chr2 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239277990 | C | CCCAGCCA others(19): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(125): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(75): Show | a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0061 others(125): Show |
128 | 242 | 0.5289 | 26 | c.23- others(43): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 2/26 | chr2 | TogoVar | |||||||
HDAC9_chr7_18490749_19007416 | 18568026 | G | GTGTATAT others(19): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0101 | 1 | 156 | 0.0064 | 26 | c.23- others(43): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18857335 | T | TTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0004 | a0001c0004t0040 | a0001c0004t0040g0016 | 1 | 156 | 0.0064 | 26 | c.268 others(47): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 21/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDGFL2_chr19_4467297_4507207 | 4467387 | T | TATATTAT others(19): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG01934.hp2 HG02257.hp1 others(15): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0003c0006others(2): Show | a0001c0001t0003a0001c0002t0003a0001c0002t0004others(4): Show | a0001c0001t0003g0142 a0001c0002t0003g0060 a0001c0002t0003g0147 others(14): Show |
18 | 358 | 0.0503 | 26 | c.-49 others(37): Show |
HDGFL2 | ENSG00000167674.15 | transcript | ENST00000616600.5 | protein_coding | 4909 | chr19 | TogoVar | |||||||
HDGFL2_chr19_4467297_4507207 | 4467387 | T | TATATTAT others(19): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00609.hp2 others(42): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0003c0007others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0130 a0001c0001t0003g0012 a0001c0001t0003g0013 others(42): Show |
45 | 358 | 0.1257 | 26 | c.-49 others(37): Show |
HDGFL2 | ENSG00000167674.15 | transcript | ENST00000616600.5 | protein_coding | 4909 | chr19 | TogoVar | |||||||
HDGFL3_chr15_83122753_83212823 | 83198054 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0216 | 1 | 246 | 0.0041 | 26 | c.84+ others(41): Show |
HDGFL3 | ENSG00000166503.9 | transcript | ENST00000299633.7 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HDGF_chr1_156737109_156756675 | 156747250 | G | GCCCCTCC others(19): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 342 | 0.0029 | 26 | c.88- others(41): Show |
HDGF | ENSG00000143321.19 | transcript | ENST00000357325.10 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73506804 | G | GTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG02056.hp1 NA18943.hp2 NA19060.hp1 others(1): Show |
a0001 | a0001c0002a0001c0014 | a0001c0002t0001a0001c0002t0002a0001c0014t0002 | a0001c0002t0001g0093 a0001c0002t0002g0207 a0001c0002t0002g0208 others(1): Show |
4 | 368 | 0.0109 | 26 | c.188 others(43): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 9/17 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73524310 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0212 | 1 | 368 | 0.0027 | 26 | c.-72 others(43): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 2/17 | chr14 | TogoVar | |||||||
HEATR5B_chr2_36975895_37089372 | 36984215 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA19074.hp2 NA19080.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0249 a0001c0002t0001g0263 |
2 | 314 | 0.0064 | 26 | c.591 others(45): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 35/35 | chr2 | TogoVar | |||||||
HEATR5B_chr2_36975895_37089372 | 37037145 | G | GATATATA others(19): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01243.hp1 HG01496.hp1 others(7): Show |
a0001a0004 | a0001c0004a0001c0014a0004c0013 | a0001c0004t0001a0001c0014t0001a0004c0013t0001 | a0001c0004t0001g0034 a0001c0004t0001g0087 a0001c0004t0001g0088 others(7): Show |
10 | 314 | 0.0319 | 26 | c.321 others(43): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 21/35 | chr2 | TogoVar | |||||||
HEBP1_chr12_12969870_13005265 | 12999316 | T | TAACAGCA others(19): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0115 | 1 | 396 | 0.0025 | 26 | c.78+ others(39): Show |
HEBP1 | ENSG00000013583.10 | transcript | ENST00000014930.9 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
HECA_chr6_139130080_139185802 | 139152418 | A | ATGTGTGT others(19): Show |
intron_variant | MODIFIER | NA19062.hp1 NA19076.hp1 NA19089.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0111 a0001c0002t0003g0112 a0001c0002t0003g0113 |
3 | 314 | 0.0096 | 26 | c.272 others(45): Show |
HECA | ENSG00000112406.5 | transcript | ENST00000367658.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HECTD1_chr14_31095117_31212793 | 31096670 | C | CATATATA others(19): Show |
downstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0010 | a0001c0010t0004 | a0001c0010t0004g0016 | 1 | 342 | 0.0029 | 26 | c.*42 others(37): Show |
HECTD1 | ENSG00000092148.14 | transcript | ENST00000399332.6 | protein_coding | 3446 | chr14 | TogoVar | |||||||
HECTD4_chr12_112155195_112387431 | 112335143 | T | TACACACA others(19): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG02897.hp2 others(1): Show |
a0001a0011 | a0001c0001a0001c0008a0011c0035 | a0001c0001t0004a0001c0008t0018a0011c0035t0005 | a0001c0001t0004g0067 a0001c0001t0004g0072 a0001c0008t0018g0268 others(1): Show |
4 | 270 | 0.0148 | 26 | c.178 others(45): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/75 | chr12 | TogoVar | |||||||
HECW1_chr7_43107647_43571001 | 43336124 | T | TTCTTTCT others(19): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0134 | 1 | 182 | 0.0055 | 26 | c.460 others(45): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HECW2_chr2_196189072_196598554 | 196278131 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02895.hp1 HG03579.hp2 |
a0001 | a0001c0002a0001c0003a0001c0007 | a0001c0002t0001a0001c0003t0010a0001c0007t0002 | a0001c0002t0001g0051 a0001c0003t0010g0025 a0001c0007t0002g0101 |
3 | 112 | 0.0268 | 26 | c.313 others(43): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 15/28 | chr2 | TogoVar | |||||||
HECW2_chr2_196189072_196598554 | 196278131 | A | AATGTATA others(19): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0106 | 1 | 112 | 0.0089 | 26 | c.313 others(43): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 15/28 | chr2 | TogoVar | |||||||
HECW2_chr2_196189072_196598554 | 196286387 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02559.hp2 HG02683.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0013 a0001c0001t0001g0084 a0001c0001t0002g0060 others(3): Show |
6 | 112 | 0.0536 | 26 | c.300 others(45): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 14/28 | chr2 | TogoVar | |||||||
HEG1_chr3_124960710_125060997 | 124987952 | C | CACACACA others(19): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0032 | a0001c0002t0005g0300 a0001c0002t0032g0199 |
2 | 362 | 0.0055 | 26 | c.373 others(45): Show |
HEG1 | ENSG00000173706.15 | transcript | ENST00000311127.9 | protein_coding | 14/16 | chr3 | TogoVar | |||||||
HELB_chr12_66297493_66343199 | 66327066 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0005 | a0005c0015 | a0005c0015t0001 | a0005c0015t0001g0299 | 1 | 390 | 0.0026 | 26 | c.267 others(45): Show |
HELB | ENSG00000127311.10 | transcript | ENST00000247815.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |