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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GUCY1A2_chr11_106669019_107023476 | 106957855 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00673.hp1 others(58): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0015a0001c0001t0001g0017a0001c0001t0001g0019others(58): Show | 61 | 256 | 0.2383 | -9 | c.488 others(28): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 3/7 | chr11 | TogoVar | ||||||
GUCY1A2_chr11_106669019_107023476 | 107015561 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp2 HG02717.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0051a0001c0002t0012others(3): Show | a0001c0001t0002g0109a0001c0001t0002g0110a0001c0001t0002g0111others(5): Show | 8 | 256 | 0.0313 | -9 | c.303 others(26): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
GUCY1B1_chr4_155754021_155812811 | 155786271 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(46): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(2): Show | a0001c0001t0001g0159a0001c0001t0001g0187a0001c0001t0001g0311others(33): Show | 49 | 364 | 0.1346 | -9 | c.298 others(26): Show |
GUCY1B1 | ENSG00000061918.14 | transcript | ENST00000264424.13 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GUCY2F_chrX_109367906_109487086 | 109423633 | TCTCCAAC others(2): Show |
T | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 217 | 0.0046 | -9 | c.179 others(28): Show |
GUCY2F | ENSG00000101890.5 | transcript | ENST00000218006.3 | protein_coding | 8/19 | chrX | TogoVar | ||||||
GULP1_chr2_188286874_188600926 | 188314168 | ACTGGATA others(2): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG02451.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0018a0001c0001t0024 | a0001c0001t0005g0073a0001c0001t0005g0074a0001c0001t0005g0075others(5): Show | 8 | 162 | 0.0494 | -9 | c.-17 others(30): Show |
GULP1 | ENSG00000144366.17 | transcript | ENST00000409830.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GXYLT2_chr3_72883046_72981915 | 72914749 | CAGATTGA others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02257.hp2 HG02559.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0046others(17): Show | 20 | 296 | 0.0676 | -9 | c.468 others(26): Show |
GXYLT2 | ENSG00000172986.13 | transcript | ENST00000389617.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GYG2_chrX_2823930_2887818 | 2824194 | GAACGGGA others(2): Show |
G | upstream_gene_variant | MODIFIER | HG03225.hp1 NA20300.hp2 |
a0002a0009 | a0002c0006a0009c0013 | a0002c0006t0003a0009c0013t0005 | a0002c0006t0003g0036a0009c0013t0005g0037 | 2 | 316 | 0.0063 | -9 | c.-49 others(20): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 4735 | chrX | TogoVar | ||||||
GYG2_chrX_2823930_2887818 | 2876033 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG01167.hp1 HG01256.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(2): Show | a0001c0001t0001g0248a0001c0001t0001g0249a0001c0001t0001g0306others(4): Show | 7 | 316 | 0.0222 | -9 | c.114 others(26): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GZMM_chr19_539053_554922 | 551698 | TCTTTCTT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00544.hp2 HG01106.hp1 HG01891.hp1 others(38): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0002c0010others(1): Show | a0001c0001t0001a0002c0003t0001a0002c0010t0001others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0010others(23): Show | 41 | 398 | 0.1030 | -9 | c.*19 others(20): Show |
GZMM | ENSG00000197540.8 | transcript | ENST00000264553.6 | protein_coding | 1777 | chr19 | TogoVar | ||||||
H1-4_chr6_26151329_26162115 | 26153752 | CTATTATT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01243.hp1 HG03130.hp2 HG03209.hp1 others(4): Show |
a0001a0003 | a0001c0001a0001c0015a0003c0008 | a0001c0001t0001a0001c0015t0001a0003c0008t0001 | a0001c0001t0001g0000a0001c0015t0001g0000a0003c0008t0001g0000 | 7 | 388 | 0.0180 | -9 | c.-26 others(20): Show |
H1-4 | ENSG00000168298.7 | transcript | ENST00000304218.6 | protein_coding | 2576 | chr6 | TogoVar | ||||||
H1-6_chr6_26102412_26113135 | 26104771 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG01361.hp2 HG02486.hp2 HG02615.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 12 | 408 | 0.0294 | -9 | c.*26 others(20): Show |
H1-6 | ENSG00000187475.6 | transcript | ENST00000338379.6 | protein_coding | 2640 | chr6 | TogoVar | ||||||
H1-8_chr3_129538175_129556467 | 129540499 | TATATATA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG01361.hp2 HG03579.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0020a0003c0004t0001g0029 | 3 | 422 | 0.0071 | -9 | c.-27 others(20): Show |
H1-8 | ENSG00000178804.8 | transcript | ENST00000324382.7 | protein_coding | 2675 | chr3 | TogoVar | ||||||
H1-8_chr3_129538175_129556467 | 129546116 | CAATAACA others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02145.hp2 others(11): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001a0004c0006t0002 | a0001c0001t0001g0023a0004c0006t0001g0007a0004c0006t0002g0007 | 14 | 422 | 0.0332 | -9 | c.89- others(24): Show |
H1-8 | ENSG00000178804.8 | transcript | ENST00000324382.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
H1-8_chr3_129538175_129556467 | 129546122 | CAATAATA others(2): Show |
C | intron_variant | MODIFIER | NA18997.hp2 NA19005.hp1 NA19074.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0040a0002c0002t0001g0049 | 3 | 422 | 0.0071 | -9 | c.89- others(24): Show |
H1-8 | ENSG00000178804.8 | transcript | ENST00000324382.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
H1-8_chr3_129538175_129556467 | 129546150 | AATAATAA others(2): Show |
A | intron_variant | MODIFIER | HG02273.hp2 NA18942.hp1 NA18948.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0115 | 5 | 422 | 0.0119 | -9 | c.89- others(24): Show |
H1-8 | ENSG00000178804.8 | transcript | ENST00000324382.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
H2AB1_chrX_154879972_154890558 | 154888399 | TTTTTTTT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG02630.hp1 HG03654.hp1 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 318 | 0.0094 | -9 | c.*30 others(20): Show |
H2AB1 | ENSG00000274183.2 | transcript | ENST00000620016.2 | protein_coding | 2842 | chrX | TogoVar | ||||||
H2BC10_chr6_26267931_26278412 | 26272712 | TAAAAAAA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00733.hp1 others(49): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0007 | a0001c0001t0001a0001c0004t0001a0002c0007t0001 | a0001c0001t0001g0000a0001c0004t0001g0000a0002c0007t0001g0000 | 52 | 396 | 0.1313 | -9 | c.-26 others(18): Show |
H2BC10 | ENSG00000278588.2 | transcript | ENST00000377733.4 | protein_coding | 218 | chr6 | TogoVar | ||||||
H2BC5_chr6_26153122_26163607 | 26153752 | CTATTATT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01243.hp2 HG03130.hp2 HG03209.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0000a0002c0004t0001g0000 | 7 | 380 | 0.0184 | -9 | c.-44 others(20): Show |
H2BC5 | ENSG00000158373.9 | transcript | ENST00000377777.6 | protein_coding | 4369 | chr6 | TogoVar | ||||||
H2BC9_chr6_26246614_26257075 | 26248846 | ATTTTTTT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00639.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 34 | 378 | 0.0900 | -9 | c.-28 others(20): Show |
H2BC9 | ENSG00000275713.3 | transcript | ENST00000619466.3 | protein_coding | 2767 | chr6 | TogoVar | ||||||
H2BN1_chr17_32890433_32911586 | 32907991 | CCTTAGCC others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(264): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(78): Show | 267 | 426 | 0.6268 | -9 | c.*16 others(20): Show |
H2BN1 | ENSG00000290320.1 | transcript | ENST00000704639.1 | protein_coding | 1406 | chr17 | TogoVar | ||||||
H3C11_chr6_27866845_27877346 | 27874931 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00609.hp1 HG01358.hp2 HG01496.hp2 others(23): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 26 | 374 | 0.0695 | -9 | c.-26 others(20): Show |
H3C11 | ENSG00000275379.2 | transcript | ENST00000616365.2 | protein_coding | 2586 | chr6 | TogoVar | ||||||
H3C7_chr6_26245142_26255635 | 26248846 | ATTTTTTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00639.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 34 | 372 | 0.0914 | -9 | c.*13 others(20): Show |
H3C7 | ENSG00000277775.2 | transcript | ENST00000618052.2 | protein_coding | 1295 | chr6 | TogoVar | ||||||
H3C8_chr6_26265918_26276413 | 26272712 | TAAAAAAA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00733.hp1 others(49): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0000a0001c0007t0001g0000 | 52 | 398 | 0.1307 | -9 | c.-13 others(20): Show |
H3C8 | ENSG00000273983.2 | transcript | ENST00000614378.2 | protein_coding | 1300 | chr6 | TogoVar | ||||||
H4C13_chr6_27868148_27878534 | 27874931 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00609.hp2 HG01358.hp1 HG01496.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 27 | 384 | 0.0703 | -9 | c.-14 others(20): Show |
H4C13 | ENSG00000275126.2 | transcript | ENST00000618305.2 | protein_coding | 1398 | chr6 | TogoVar | ||||||
H4C14_chr1_149827657_149838052 | 149835184 | TCTTCCTT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01123.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 6 | 236 | 0.0254 | -9 | c.*21 others(20): Show |
H4C14 | ENSG00000270882.3 | transcript | ENST00000578186.3 | protein_coding | 2133 | chr1 | TogoVar | ||||||
H4C15_chr1_149855764_149866159 | 149858608 | AGGAAGGA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG01071.hp2 HG01243.hp1 HG01255.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0000a0001c0001t0002g0000 | 4 | 206 | 0.0194 | -9 | c.*22 others(20): Show |
H4C15 | ENSG00000270276.3 | transcript | ENST00000579512.3 | protein_coding | 2155 | chr1 | TogoVar | ||||||
H4C3_chr6_26098933_26109337 | 26104771 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG01361.hp1 HG02486.hp2 HG02615.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 12 | 408 | 0.0294 | -9 | c.*51 others(18): Show |
H4C3 | ENSG00000197061.5 | transcript | ENST00000377803.4 | protein_coding | 435 | chr6 | TogoVar | ||||||
H4C7_chr6_26241611_26251996 | 26248846 | ATTTTTTT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00639.hp2 others(32): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0000a0002c0002t0001g0000 | 35 | 366 | 0.0956 | -9 | c.-18 others(20): Show |
H4C7 | ENSG00000275663.2 | transcript | ENST00000611444.2 | protein_coding | 1851 | chr6 | TogoVar | ||||||
H6PD_chr1_9229774_9276337 | 9251436 | CTGTTGTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG00733.hp2 others(100): Show |
a0001a0002a0006others(6): Show | a0001c0001a0001c0004a0001c0014others(24): Show | a0001c0001t0008a0001c0001t0022a0001c0001t0103others(49): Show | a0001c0001t0008g0002a0001c0001t0008g0049a0001c0001t0008g0253others(81): Show | 103 | 404 | 0.2550 | -9 | c.745 others(26): Show |
H6PD | ENSG00000049239.13 | transcript | ENST00000377403.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HABP4_chr9_96445169_96496336 | 96456781 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG03195.hp1 HG04184.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0002t0002a0001c0007t0001 | a0001c0001t0001g0064a0001c0001t0001g0075a0001c0001t0001g0076others(3): Show | 6 | 306 | 0.0196 | -9 | c.350 others(26): Show |
HABP4 | ENSG00000130956.14 | transcript | ENST00000375249.5 | protein_coding | 1/7 | chr9 | TogoVar | ||||||
HACD1_chr10_17584032_17622374 | 17591976 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG02717.hp2 HG02970.hp2 HG03195.hp2 others(3): Show |
a0001a0003a0004 | a0001c0001a0001c0012a0003c0003others(1): Show | a0001c0001t0001a0001c0012t0001a0003c0003t0012others(1): Show | a0001c0001t0001g0171a0001c0012t0001g0335a0003c0003t0012g0084others(3): Show | 6 | 410 | 0.0146 | -9 | c.785 others(26): Show |
HACD1 | ENSG00000165996.14 | transcript | ENST00000361271.8 | protein_coding | 6/6 | chr10 | TogoVar | ||||||
HACD1_chr10_17584032_17622374 | 17613133 | TGTGTGTG others(2): Show |
T | intron_variant | MODIFIER | HG04199.hp1 NA18947.hp2 NA18951.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0130a0001c0001t0002g0131a0001c0001t0002g0132others(1): Show | 4 | 410 | 0.0098 | -9 | c.257 others(26): Show |
HACD1 | ENSG00000165996.14 | transcript | ENST00000361271.8 | protein_coding | 1/6 | chr10 | TogoVar | ||||||
HACD1_chr10_17584032_17622374 | 17613909 | GTCAGAGA others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00735.hp2 others(74): Show |
a0001a0003a0008 | a0001c0001a0001c0005a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0007a0001c0001t0001g0062a0001c0001t0001g0066others(60): Show | 77 | 410 | 0.1878 | -9 | c.257 others(26): Show |
HACD1 | ENSG00000165996.14 | transcript | ENST00000361271.8 | protein_coding | 1/6 | chr10 | TogoVar | ||||||
HACD2_chr3_123486554_123590053 | 123569988 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG02083.hp2 HG02293.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0013a0001c0001t0015others(2): Show | a0001c0001t0003g0154a0001c0001t0013g0115a0001c0001t0013g0116others(11): Show | 14 | 350 | 0.0400 | -9 | c.274 others(26): Show |
HACD2 | ENSG00000206527.10 | transcript | ENST00000383657.10 | protein_coding | 2/6 | chr3 | TogoVar | ||||||
HACD3_chr15_65525463_65583349 | 65537959 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG02027.hp2 NA18972.hp1 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0256a0002c0003t0003g0257a0002c0003t0003g0258others(3): Show | 6 | 328 | 0.0183 | -9 | c.87+ others(24): Show |
HACD3 | ENSG00000074696.13 | transcript | ENST00000261875.10 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
HACD3_chr15_65525463_65583349 | 65549599 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG02723.hp1 HG02922.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0280a0001c0001t0006g0283a0001c0001t0006g0284others(3): Show | 6 | 328 | 0.0183 | -9 | c.88- others(24): Show |
HACD3 | ENSG00000074696.13 | transcript | ENST00000261875.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
HACE1_chr6_104723094_104864919 | 104838890 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG01074.hp2 HG01081.hp2 others(40): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0083a0001c0002t0001g0085a0001c0002t0001g0086others(40): Show | 43 | 346 | 0.1243 | -9 | c.402 others(26): Show |
HACE1 | ENSG00000085382.12 | transcript | ENST00000262903.9 | protein_coding | 5/23 | chr6 | TogoVar | ||||||
HACL1_chr3_15555699_15606569 | 15592085 | TATACACA others(2): Show |
T | intron_variant | MODIFIER | HG02965.hp1 HG02970.hp1 HG02976.hp2 others(3): Show |
a0001a0007 | a0001c0001a0001c0003a0007c0009 | a0001c0001t0001a0001c0003t0001a0001c0003t0003others(1): Show | a0001c0001t0001g0049a0001c0003t0001g0044a0001c0003t0001g0045others(3): Show | 6 | 428 | 0.0140 | -9 | c.228 others(24): Show |
HACL1 | ENSG00000131373.15 | transcript | ENST00000321169.10 | protein_coding | 3/16 | chr3 | TogoVar | ||||||
HADHB_chr2_26239939_26295465 | 26294409 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01074.hp1 HG01167.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0004a0001c0001t0005g0239a0001c0001t0005g0240 | 6 | 290 | 0.0207 | -9 | c.*44 others(20): Show |
HADHB | ENSG00000138029.14 | transcript | ENST00000317799.10 | protein_coding | 3945 | chr2 | TogoVar | ||||||
HAP1_chr17_41717640_41739643 | 41730104 | AAAAGAAA others(2): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG02698.hp1 HG02809.hp1 others(6): Show |
a0004a0005a0019others(1): Show | a0004c0004a0005c0005a0019c0030others(1): Show | a0004c0004t0002a0005c0005t0001a0005c0005t0006others(3): Show | a0004c0004t0002g0168a0005c0005t0001g0162a0005c0005t0001g0166others(6): Show | 9 | 374 | 0.0241 | -9 | c.106 others(28): Show |
HAP1 | ENSG00000173805.16 | transcript | ENST00000347901.9 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
HAPSTR1_chr16_9086644_9126635 | 9099263 | TCTTGGCT others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG00639.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010a0001c0001t0014others(5): Show | a0001c0001t0005g0001a0001c0001t0005g0199a0001c0001t0005g0200others(12): Show | 33 | 398 | 0.0829 | -9 | c.308 others(26): Show |
HAPSTR1 | ENSG00000182831.12 | transcript | ENST00000327827.12 | protein_coding | 2/3 | chr16 | TogoVar | ||||||
HAPSTR2_chrX_140086678_140097911 | 140094972 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG02886.hp2 NA18956.hp1 NA18978.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0000a0001c0002t0001g0000 | 3 | 312 | 0.0096 | -9 | c.*24 others(20): Show |
HAPSTR2 | ENSG00000230707.3 | transcript | ENST00000453380.3 | protein_coding | 2062 | chrX | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171953626 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01975.hp2 HG02300.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075a0001c0001t0001g0085a0001c0001t0001g0116others(3): Show | 6 | 326 | 0.0184 | -9 | c.309 others(24): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
HAUS1_chr18_46099385_46133333 | 46112539 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG01496.hp1 HG02647.hp1 HG02818.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0037others(4): Show | 7 | 372 | 0.0188 | -9 | c.206 others(26): Show |
HAUS1 | ENSG00000152240.13 | transcript | ENST00000282058.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
HAUS2_chr15_42543838_42574994 | 42544360 | TCAGACCA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG00733.hp2 others(33): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0016a0001c0001t0020others(3): Show | a0001c0001t0003g0010a0001c0001t0003g0011a0001c0001t0003g0012others(30): Show | 36 | 350 | 0.1029 | -9 | c.-45 others(20): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 4477 | chr15 | TogoVar | ||||||
HAUS8_chr19_17044729_17080452 | 17055144 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG02074.hp2 HG02080.hp1 others(6): Show |
a0001a0003 | a0001c0002a0001c0003a0003c0005 | a0001c0002t0001a0001c0003t0002a0003c0005t0002 | a0001c0002t0001g0042a0001c0002t0001g0052a0001c0002t0001g0053others(6): Show | 9 | 400 | 0.0225 | -9 | c.787 others(24): Show |
HAUS8 | ENSG00000131351.15 | transcript | ENST00000253669.10 | protein_coding | 9/10 | chr19 | TogoVar | ||||||
HAVCR2_chr5_157080832_157114044 | 157083947 | TTTATTAT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00621.hp2 others(63): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(51): Show | 66 | 380 | 0.1737 | -9 | c.*31 others(20): Show |
HAVCR2 | ENSG00000135077.10 | transcript | ENST00000307851.9 | protein_coding | 1884 | chr5 | TogoVar | ||||||
HAVCR2_chr5_157080832_157114044 | 157111960 | AATTTTAT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(271): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(224): Show | 274 | 380 | 0.7211 | -9 | c.-29 others(20): Show |
HAVCR2 | ENSG00000135077.10 | transcript | ENST00000307851.9 | protein_coding | 2917 | chr5 | TogoVar | ||||||
HAX1_chr1_154267629_154280875 | 154271906 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01255.hp2 HG01256.hp2 HG01258.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0002g0002 | 12 | 392 | 0.0306 | -9 | c.-81 others(18): Show |
HAX1 | ENSG00000143575.16 | transcript | ENST00000328703.12 | protein_coding | 722 | chr1 | TogoVar | ||||||
HAX1_chr1_154267629_154280875 | 154277330 | ATATTTTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG01109.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0004 | 10 | 392 | 0.0255 | -9 | c.*16 others(20): Show |
HAX1 | ENSG00000143575.16 | transcript | ENST00000328703.12 | protein_coding | 1456 | chr1 | TogoVar |