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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GTF2H5_chr6_158163350_158204344 | 158169707 | G | GTATATTA others(12): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0217 | 1 | 384 | 0.0026 | 19 | c.-34 others(34): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GTF2H5_chr6_158163350_158204344 | 158193204 | T | TAGGAGGA others(12): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(163): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(54): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(148): Show | 166 | 384 | 0.4323 | 19 | c.*10 others(30): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 3/3 | 1054 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
GTF2H5_chr6_158163350_158204344 | 158193204 | T | TAGGAGGT others(12): Show |
3_prime_UTR_variant | MODIFIER | HG02622.hp1 HG02886.hp2 HG02970.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0044a0001c0001t0107a0001c0001t0108others(1): Show | a0001c0001t0044g0192a0001c0001t0044g0193a0001c0001t0107g0073others(2): Show | 5 | 384 | 0.0130 | 19 | c.*10 others(30): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 3/3 | 1055 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
GTF2IRD1_chr7_74448906_74607605 | 74558347 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0012 | 1 | 262 | 0.0038 | 19 | c.210 others(36): Show |
GTF2IRD1 | ENSG00000006704.11 | transcript | ENST00000424337.7 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GTF3C3_chr2_196758035_196804683 | 196781342 | G | GAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03491.hp2 HG03492.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005a0001c0001t0002g0216 | 4 | 252 | 0.0159 | 19 | c.111 others(36): Show |
GTF3C3 | ENSG00000119041.11 | transcript | ENST00000263956.8 | protein_coding | 8/17 | chr2 | TogoVar | ||||||
GTF3C3_chr2_196758035_196804683 | 196781349 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 252 | 0.0040 | 19 | c.111 others(36): Show |
GTF3C3 | ENSG00000119041.11 | transcript | ENST00000263956.8 | protein_coding | 8/17 | chr2 | TogoVar | ||||||
GTF3C3_chr2_196758035_196804683 | 196781355 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02735.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0046a0001c0001t0008g0107 | 2 | 252 | 0.0079 | 19 | c.111 others(36): Show |
GTF3C3 | ENSG00000119041.11 | transcript | ENST00000263956.8 | protein_coding | 8/17 | chr2 | TogoVar | ||||||
GTF3C3_chr2_196758035_196804683 | 196781357 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0208 | 1 | 252 | 0.0040 | 19 | c.111 others(36): Show |
GTF3C3 | ENSG00000119041.11 | transcript | ENST00000263956.8 | protein_coding | 8/17 | chr2 | TogoVar | ||||||
GTF3C3_chr2_196758035_196804683 | 196781357 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0206 | 1 | 252 | 0.0040 | 19 | c.111 others(36): Show |
GTF3C3 | ENSG00000119041.11 | transcript | ENST00000263956.8 | protein_coding | 8/17 | chr2 | TogoVar | ||||||
GTF3C3_chr2_196758035_196804683 | 196781357 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0202 | 1 | 252 | 0.0040 | 19 | c.111 others(36): Show |
GTF3C3 | ENSG00000119041.11 | transcript | ENST00000263956.8 | protein_coding | 8/17 | chr2 | TogoVar | ||||||
GUCA1C_chr3_108902792_108958879 | 108931215 | T | TGACTGCA others(12): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(138): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0004others(6): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(6): Show | a0001c0001t0001g0052a0001c0001t0001g0301a0001c0001t0001g0308others(135): Show | 141 | 374 | 0.3770 | 19 | c.205 others(38): Show |
GUCA1C | ENSG00000138472.11 | transcript | ENST00000261047.8 | protein_coding | 1/3 | chr3 | TogoVar | ||||||
GUCA1C_chr3_108902792_108958879 | 108939324 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01070.hp1 HG01928.hp1 others(4): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0283a0002c0002t0001g0291a0002c0002t0001g0314others(3): Show | 7 | 374 | 0.0187 | 19 | c.204 others(38): Show |
GUCA1C | ENSG00000138472.11 | transcript | ENST00000261047.8 | protein_coding | 1/3 | chr3 | TogoVar | ||||||
GUCA1C_chr3_108902792_108958879 | 108955590 | T | TAAAAAAA others(12): Show |
upstream_gene_variant | MODIFIER | HG01943.hp2 NA18954.hp2 NA18989.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0278a0002c0002t0001g0281a0002c0002t0001g0317 | 3 | 374 | 0.0080 | 19 | c.-18 others(30): Show |
GUCA1C | ENSG00000138472.11 | transcript | ENST00000261047.8 | protein_coding | 1712 | chr3 | TogoVar | ||||||
GUCA2A_chr1_42157690_42169745 | 42159195 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00738.hp2 HG02698.hp1 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 12 | 436 | 0.0275 | 19 | c.*37 others(30): Show |
GUCA2A | ENSG00000197273.4 | transcript | ENST00000357001.3 | protein_coding | 3494 | chr1 | TogoVar | ||||||
GUCA2A_chr1_42157690_42169745 | 42159195 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG01978.hp1 HG02698.hp2 NA18939.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0025 | 10 | 436 | 0.0229 | 19 | c.*37 others(30): Show |
GUCA2A | ENSG00000197273.4 | transcript | ENST00000357001.3 | protein_coding | 3494 | chr1 | TogoVar | ||||||
GUCA2A_chr1_42157690_42169745 | 42159195 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 | a0007 | a0007c0006 | a0007c0006t0001 | a0007c0006t0001g0020 | 1 | 436 | 0.0023 | 19 | c.*37 others(30): Show |
GUCA2A | ENSG00000197273.4 | transcript | ENST00000357001.3 | protein_coding | 3494 | chr1 | TogoVar | ||||||
GUCA2B_chr1_42148410_42160820 | 42159195 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00738.hp2 HG02698.hp2 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 12 | 442 | 0.0272 | 19 | c.*35 others(30): Show |
GUCA2B | ENSG00000044012.4 | transcript | ENST00000372581.2 | protein_coding | 3376 | chr1 | TogoVar | ||||||
GUCA2B_chr1_42148410_42160820 | 42159195 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 HG01978.hp1 HG02698.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0002t0001g0005 | 8 | 442 | 0.0181 | 19 | c.*35 others(30): Show |
GUCA2B | ENSG00000044012.4 | transcript | ENST00000372581.2 | protein_coding | 3376 | chr1 | TogoVar | ||||||
GUCA2B_chr1_42148410_42160820 | 42159195 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 442 | 0.0023 | 19 | c.*35 others(30): Show |
GUCA2B | ENSG00000044012.4 | transcript | ENST00000372581.2 | protein_coding | 3376 | chr1 | TogoVar | ||||||
GUCY1A2_chr11_106669019_107023476 | 106698119 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0072 | a0001c0001t0072g0090 | 1 | 256 | 0.0039 | 19 | c.199 others(40): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 7/7 | chr11 | TogoVar | ||||||
GUCY1A2_chr11_106669019_107023476 | 106710005 | T | TTATATAC others(12): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00738.hp1 others(43): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(25): Show | a0001c0001t0003g0079a0001c0001t0003g0086a0001c0001t0004g0009others(43): Show | 46 | 256 | 0.1797 | 19 | c.183 others(38): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | ||||||
GUCY1A2_chr11_106669019_107023476 | 106944215 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02273.hp1 HG02809.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0022a0001c0001t0041others(6): Show | a0001c0001t0001g0059a0001c0001t0022g0028a0001c0001t0022g0108others(8): Show | 11 | 256 | 0.0430 | 19 | c.488 others(36): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 3/7 | chr11 | TogoVar | ||||||
GYG1_chr3_148986540_149036775 | 149022498 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01169.hp2 NA18951.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0217a0001c0001t0002g0263a0001c0001t0007g0274 | 3 | 414 | 0.0073 | 19 | c.609 others(36): Show |
GYG1 | ENSG00000163754.18 | transcript | ENST00000345003.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GZMK_chr5_55019256_55039570 | 55022347 | A | ACACACAC others(12): Show |
upstream_gene_variant | MODIFIER | HG03540.hp2 NA19005.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0001a0001c0001t0009g0098 | 2 | 464 | 0.0043 | 19 | c.-19 others(30): Show |
GZMK | ENSG00000113088.6 | transcript | ENST00000231009.3 | protein_coding | 1908 | chr5 | TogoVar | ||||||
H2AB2_chrX_155375709_155386299 | 155384120 | A | ATTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG00738.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0000a0001c0001t0002g0000a0002c0002t0001g0000 | 19 | 229 | 0.0830 | 19 | c.*29 others(30): Show |
H2AB2 | ENSG00000277858.2 | transcript | ENST00000354514.6 | protein_coding | 2822 | chrX | TogoVar | ||||||
H2AC19_chr1_149846061_149856594 | 149851705 | A | ACGGGACG others(12): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 328 | 0.0031 | 19 | c.*19 others(28): Show |
H2AC19 | ENSG00000288859.1 | transcript | ENST00000607355.3 | protein_coding | 112 | chr1 | TogoVar | ||||||
H2AC4_chr6_26028092_26038618 | 26031178 | A | ATATATAT others(12): Show |
downstream_gene_variant | MODIFIER | HG02080.hp2 HG02735.hp1 HG04199.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 4 | 406 | 0.0099 | 19 | c.*19 others(30): Show |
H2AC4 | ENSG00000278463.2 | transcript | ENST00000615868.2 | protein_coding | 1913 | chr6 | TogoVar | ||||||
H2AC6_chr6_26119172_26129690 | 26121961 | G | GGATTGGT others(12): Show |
upstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0000 | 1 | 396 | 0.0025 | 19 | c.-22 others(30): Show |
H2AC6 | ENSG00000180573.10 | transcript | ENST00000377791.4 | protein_coding | 2210 | chr6 | TogoVar | ||||||
H2AZ2_chr7_44826978_44853087 | 44839119 | A | ACAGACTG others(12): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 406 | 0.0025 | 19 | c.195 others(36): Show |
H2AZ2 | ENSG00000105968.19 | transcript | ENST00000308153.9 | protein_coding | 3/4 | chr7 | TogoVar | ||||||
H2BC4_chr6_26118467_26128926 | 26121961 | G | GGATTGGT others(12): Show |
downstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 402 | 0.0025 | 19 | c.*15 others(30): Show |
H2BC4 | ENSG00000180596.9 | transcript | ENST00000396984.2 | protein_coding | 1505 | chr6 | TogoVar | ||||||
H3-3B_chr17_75771434_75784779 | 75782239 | A | ATTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 HG02135.hp1 HG02165.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0017 | a0001c0001t0002g0002a0001c0001t0010g0011a0001c0001t0017g0023 | 10 | 432 | 0.0232 | 19 | c.-26 others(30): Show |
H3-3B | ENSG00000132475.10 | transcript | ENST00000254810.8 | protein_coding | 2461 | chr17 | TogoVar | ||||||
H3C15_chr1_149847608_149858125 | 149851705 | A | ACGGGACG others(12): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00597.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 332 | 0.0060 | 19 | c.-95 others(28): Show |
H3C15 | ENSG00000203852.4 | transcript | ENST00000403683.2 | protein_coding | 902 | chr1 | TogoVar | ||||||
H3C2_chr6_26026589_26037099 | 26031178 | A | ATATATAT others(12): Show |
downstream_gene_variant | MODIFIER | HG02080.hp2 HG02735.hp2 HG04199.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 4 | 396 | 0.0101 | 19 | c.*47 others(28): Show |
H3C2 | ENSG00000286522.2 | transcript | ENST00000621411.3 | protein_coding | 410 | chr6 | TogoVar | ||||||
H4C12_chr6_27826174_27836560 | 27832868 | A | ATTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 419 | 0.0048 | 19 | c.-13 others(30): Show |
H4C12 | ENSG00000273542.2 | transcript | ENST00000611927.2 | protein_coding | 1309 | chr6 | TogoVar | ||||||
H4C14_chr1_149827657_149838052 | 149827834 | T | TTTCTTTC others(12): Show |
upstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 236 | 0.0042 | 19 | c.-48 others(30): Show |
H4C14 | ENSG00000270882.3 | transcript | ENST00000578186.3 | protein_coding | 4822 | chr1 | TogoVar | ||||||
H4C2_chr6_26021896_26032283 | 26031178 | A | ATATATAT others(12): Show |
upstream_gene_variant | MODIFIER | HG02080.hp2 HG02735.hp1 HG04199.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 4 | 400 | 0.0100 | 19 | c.-39 others(30): Show |
H4C2 | ENSG00000278705.3 | transcript | ENST00000377745.5 | protein_coding | 3896 | chr6 | TogoVar | ||||||
HACD1_chr10_17584032_17622374 | 17591976 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0275 | 1 | 410 | 0.0024 | 19 | c.785 others(36): Show |
HACD1 | ENSG00000165996.14 | transcript | ENST00000361271.8 | protein_coding | 6/6 | chr10 | TogoVar | ||||||
HACD2_chr3_123486554_123590053 | 123542146 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02615.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0113a0001c0001t0005g0173 | 2 | 350 | 0.0057 | 19 | c.293 others(38): Show |
HACD2 | ENSG00000206527.10 | transcript | ENST00000383657.10 | protein_coding | 3/6 | chr3 | TogoVar | ||||||
HACE1_chr6_104723094_104864919 | 104799909 | G | GCCAAAGT others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(227): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0121a0001c0001t0001g0122others(226): Show | 230 | 346 | 0.6647 | 19 | c.618 others(36): Show |
HACE1 | ENSG00000085382.12 | transcript | ENST00000262903.9 | protein_coding | 7/23 | chr6 | TogoVar | ||||||
HACE1_chr6_104723094_104864919 | 104831980 | G | GAAGAGAA others(12): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 | 1 | 346 | 0.0029 | 19 | c.534 others(36): Show |
HACE1 | ENSG00000085382.12 | transcript | ENST00000262903.9 | protein_coding | 6/23 | chr6 | TogoVar | ||||||
HADHB_chr2_26239939_26295465 | 26285739 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG01074.hp2 others(29): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0003 | a0001c0001t0001g0018a0001c0001t0001g0067a0001c0001t0001g0079others(29): Show | 32 | 290 | 0.1103 | 19 | c.138 others(36): Show |
HADHB | ENSG00000138029.14 | transcript | ENST00000317799.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
HAGH_chr16_1802629_1831825 | 1826522 | C | CCCGCGGC others(12): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02572.hp1 others(13): Show |
a0001a0005 | a0001c0003a0005c0019 | a0001c0003t0002a0001c0003t0003a0005c0019t0003 | a0001c0003t0002g0131a0001c0003t0003g0031a0001c0003t0003g0032others(11): Show | 16 | 436 | 0.0367 | 19 | c.76+ others(32): Show |
HAGH | ENSG00000063854.13 | transcript | ENST00000397356.8 | protein_coding | 1/8 | chr16 | TogoVar | ||||||
HAGH_chr16_1802629_1831825 | 1830944 | A | ACACACAC others(12): Show |
upstream_gene_variant | MODIFIER | HG02040.hp1 HG02055.hp2 HG02135.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0013a0001c0001t0014others(5): Show | a0001c0001t0003g0108a0001c0001t0003g0141a0001c0001t0013g0028others(11): Show | 16 | 436 | 0.0367 | 19 | c.-41 others(30): Show |
HAGH | ENSG00000063854.13 | transcript | ENST00000397356.8 | protein_coding | 4120 | chr16 | TogoVar | ||||||
HAGH_chr16_1802629_1831825 | 1830945 | C | CACACACA others(12): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0004 | a0001c0004t0022 | a0001c0004t0022g0154 | 1 | 436 | 0.0023 | 19 | c.-41 others(30): Show |
HAGH | ENSG00000063854.13 | transcript | ENST00000397356.8 | protein_coding | 4121 | chr16 | TogoVar | ||||||
HAL_chr12_95967662_96001344 | 95971936 | C | CTTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 HG02572.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0011 | a0001c0001t0001g0124a0001c0001t0009g0244a0001c0001t0011g0046 | 3 | 418 | 0.0072 | 19 | c.*22 others(30): Show |
HAL | ENSG00000084110.11 | transcript | ENST00000261208.8 | protein_coding | 725 | chr12 | TogoVar | ||||||
HAP1_chr17_41717640_41739643 | 41737065 | G | GAGGAAGG others(12): Show |
upstream_gene_variant | MODIFIER | HG02083.hp1 | a0015 | a0015c0014 | a0015c0014t0001 | a0015c0014t0001g0088 | 1 | 374 | 0.0027 | 19 | c.-24 others(30): Show |
HAP1 | ENSG00000173805.16 | transcript | ENST00000347901.9 | protein_coding | 2423 | chr17 | TogoVar | ||||||
HAP1_chr17_41717640_41739643 | 41737081 | A | AAGGAAGG others(12): Show |
upstream_gene_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 374 | 0.0027 | 19 | c.-24 others(30): Show |
HAP1 | ENSG00000173805.16 | transcript | ENST00000347901.9 | protein_coding | 2439 | chr17 | TogoVar | ||||||
HAPLN2_chr1_156614415_156630725 | 156623033 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01256.hp1 HG01256.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046a0001c0001t0001g0048a0001c0001t0001g0090others(4): Show | 9 | 418 | 0.0215 | 19 | c.-24 others(34): Show |
HAPLN2 | ENSG00000132702.13 | transcript | ENST00000255039.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HAPSTR1_chr16_9086644_9126635 | 9088603 | C | CAAAAAAA others(12): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG01192.hp2 HG01517.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010a0001c0001t0014others(1): Show | a0001c0001t0005g0001a0001c0001t0005g0206a0001c0001t0010g0001others(2): Show | 6 | 398 | 0.0151 | 19 | c.-34 others(30): Show |
HAPSTR1 | ENSG00000182831.12 | transcript | ENST00000327827.12 | protein_coding | 3040 | chr16 | TogoVar | ||||||
HAS1_chr19_51708112_51728991 | 51720805 | C | CTTAAATC others(12): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0071 | 1 | 464 | 0.0022 | 19 | c.10- others(32): Show |
HAS1 | ENSG00000105509.11 | transcript | ENST00000540069.7 | protein_coding | 1/4 | chr19 | TogoVar |