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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
H4C11_chr6_27819092_27829480 | 27829477 | T | TTTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00642.hp1 others(50): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(2): Show | a0001c0001t0001g0000a0001c0001t0008g0000a0001c0002t0001g0000others(2): Show | 53 | 396 | 0.1338 | 8 | c.*50 others(19): Show |
H4C11 | ENSG00000197238.5 | transcript | ENST00000355057.3 | protein_coding | 4998 | chr6 | TogoVar | ||||||
H4C12_chr6_27826174_27836560 | 27829477 | T | TTTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00609.hp2 HG00642.hp2 others(49): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0000a0001c0002t0001g0000a0001c0002t0002g0000 | 52 | 419 | 0.1241 | 8 | c.*17 others(19): Show |
H4C12 | ENSG00000273542.2 | transcript | ENST00000611927.2 | protein_coding | 1696 | chr6 | TogoVar | ||||||
H4C12_chr6_27826174_27836560 | 27832868 | A | ATTTTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG02602.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 8 | 419 | 0.0191 | 8 | c.-13 others(19): Show |
H4C12 | ENSG00000273542.2 | transcript | ENST00000611927.2 | protein_coding | 1309 | chr6 | TogoVar | ||||||
H4C14_chr1_149827657_149838052 | 149835133 | T | TTCCCTCC others(1): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG02486.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0000a0001c0001t0003g0000 | 6 | 236 | 0.0254 | 8 | c.*21 others(19): Show |
H4C14 | ENSG00000270882.3 | transcript | ENST00000578186.3 | protein_coding | 2082 | chr1 | TogoVar | ||||||
H4C15_chr1_149855764_149866159 | 149858649 | A | AAGGGAGG others(1): Show |
downstream_gene_variant | MODIFIER | HG01993.hp2 HG02071.hp1 HG02071.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 15 | 206 | 0.0728 | 8 | c.*21 others(19): Show |
H4C15 | ENSG00000270276.3 | transcript | ENST00000579512.3 | protein_coding | 2114 | chr1 | TogoVar | ||||||
H4C2_chr6_26021896_26032283 | 26031152 | G | GTATATAT others(1): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG01257.hp2 HG01496.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0000a0001c0002t0002g0000 | 6 | 400 | 0.0150 | 8 | c.-39 others(19): Show |
H4C2 | ENSG00000278705.3 | transcript | ENST00000377745.5 | protein_coding | 3870 | chr6 | TogoVar | ||||||
H4C3_chr6_26098933_26109337 | 26103843 | G | GAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG01106.hp2 HG02055.hp2 HG02109.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0000a0001c0001t0003g0000 | 20 | 408 | 0.0490 | 8 | c.-10 others(17): Show |
H4C3 | ENSG00000197061.5 | transcript | ENST00000377803.4 | protein_coding | 89 | chr6 | TogoVar | ||||||
H4C5_chr6_26199610_26210021 | 26208137 | A | ATATATTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00639.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 12 | 408 | 0.0294 | 8 | c.*31 others(19): Show |
H4C5 | ENSG00000276966.3 | transcript | ENST00000615164.3 | protein_coding | 3117 | chr6 | TogoVar | ||||||
H6PD_chr1_9229774_9276337 | 9263404 | C | CTGAGGCA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(49): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0001a0001c0003t0002a0001c0003t0004others(32): Show | a0001c0001t0001g0202a0001c0001t0001g0212a0001c0001t0001g0229others(43): Show | 52 | 404 | 0.1287 | 8 | c.101 others(24): Show |
H6PD | ENSG00000049239.13 | transcript | ENST00000377403.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HAAO_chr2_42762089_42797583 | 42765676 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp2 others(54): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0010 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0179a0001c0001t0001g0181a0001c0001t0001g0183others(52): Show | 57 | 410 | 0.1390 | 8 | c.*17 others(19): Show |
HAAO | ENSG00000162882.15 | transcript | ENST00000294973.11 | protein_coding | 1412 | chr2 | TogoVar | ||||||
HAAO_chr2_42762089_42797583 | 42766818 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(268): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0004a0001c0001t0001g0015a0001c0001t0001g0018others(253): Show | 271 | 410 | 0.6610 | 8 | c.*61 others(17): Show |
HAAO | ENSG00000162882.15 | transcript | ENST00000294973.11 | protein_coding | 270 | chr2 | TogoVar | ||||||
HAAO_chr2_42762089_42797583 | 42786009 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01975.hp1 NA18980.hp2 NA19070.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0299a0001c0001t0001g0300a0001c0001t0002g0203others(1): Show | 4 | 410 | 0.0098 | 8 | c.160 others(25): Show |
HAAO | ENSG00000162882.15 | transcript | ENST00000294973.11 | protein_coding | 2/9 | chr2 | TogoVar | ||||||
HABP4_chr9_96445169_96496336 | 96447274 | C | CCAAACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00597.hp2 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0084others(39): Show | 42 | 306 | 0.1373 | 8 | c.-30 others(19): Show |
HABP4 | ENSG00000130956.14 | transcript | ENST00000375249.5 | protein_coding | 2894 | chr9 | TogoVar | ||||||
HABP4_chr9_96445169_96496336 | 96447277 | A | AACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG02015.hp2 HG02165.hp1 HG03017.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100a0001c0001t0001g0101a0001c0001t0001g0118others(1): Show | 4 | 306 | 0.0131 | 8 | c.-30 others(19): Show |
HABP4 | ENSG00000130956.14 | transcript | ENST00000375249.5 | protein_coding | 2891 | chr9 | TogoVar | ||||||
HACD1_chr10_17584032_17622374 | 17584499 | C | CATAAATA others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00544.hp1 others(73): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0002c0002t0002a0003c0003t0003others(3): Show | a0001c0001t0002g0003a0001c0001t0002g0009a0001c0001t0002g0020others(66): Show | 76 | 410 | 0.1854 | 8 | c.*58 others(19): Show |
HACD1 | ENSG00000165996.14 | transcript | ENST00000361271.8 | protein_coding | 4532 | chr10 | TogoVar | ||||||
HACD1_chr10_17584032_17622374 | 17591976 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02055.hp1 HG02145.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0003 | a0001c0001t0002g0122a0001c0001t0002g0150a0001c0001t0002g0260others(3): Show | 6 | 410 | 0.0146 | 8 | c.785 others(25): Show |
HACD1 | ENSG00000165996.14 | transcript | ENST00000361271.8 | protein_coding | 6/6 | chr10 | TogoVar | ||||||
HACD1_chr10_17584032_17622374 | 17613144 | G | GTTTTGTT others(1): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02896.hp1 HG02965.hp1 |
a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0291a0005c0006t0002g0292a0005c0006t0002g0293 | 3 | 410 | 0.0073 | 8 | c.257 others(25): Show |
HACD1 | ENSG00000165996.14 | transcript | ENST00000361271.8 | protein_coding | 1/6 | chr10 | TogoVar | ||||||
HACD2_chr3_123486554_123590053 | 123534029 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02572.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222a0001c0001t0001g0246a0001c0001t0001g0247others(2): Show | 5 | 350 | 0.0143 | 8 | c.293 others(25): Show |
HACD2 | ENSG00000206527.10 | transcript | ENST00000383657.10 | protein_coding | 3/6 | chr3 | TogoVar | ||||||
HACD2_chr3_123486554_123590053 | 123539911 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01081.hp2 HG02486.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0003 | a0001c0001t0002g0005a0001c0003t0003g0327a0001c0003t0003g0329others(5): Show | 9 | 350 | 0.0257 | 8 | c.293 others(27): Show |
HACD2 | ENSG00000206527.10 | transcript | ENST00000383657.10 | protein_coding | 3/6 | chr3 | TogoVar | ||||||
HACD2_chr3_123486554_123590053 | 123545486 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00639.hp2 HG00735.hp1 others(74): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0006a0001c0001t0018others(8): Show | a0001c0001t0003g0112a0001c0001t0003g0154a0001c0001t0006g0218others(72): Show | 77 | 350 | 0.2200 | 8 | c.293 others(27): Show |
HACD2 | ENSG00000206527.10 | transcript | ENST00000383657.10 | protein_coding | 3/6 | chr3 | TogoVar | ||||||
HACD2_chr3_123486554_123590053 | 123570917 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00673.hp2 HG00735.hp2 HG00738.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0005a0001c0002t0001a0001c0002t0003others(4): Show | a0001c0001t0005g0113a0001c0001t0005g0114a0001c0001t0005g0199others(27): Show | 31 | 350 | 0.0886 | 8 | c.274 others(25): Show |
HACD2 | ENSG00000206527.10 | transcript | ENST00000383657.10 | protein_coding | 2/6 | chr3 | TogoVar | ||||||
HACD3_chr15_65525463_65583349 | 65537792 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01109.hp2 HG01243.hp1 others(21): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0033others(21): Show | 24 | 328 | 0.0732 | 8 | c.87+ others(23): Show |
HACD3 | ENSG00000074696.13 | transcript | ENST00000261875.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
HACE1_chr6_104723094_104864919 | 104811238 | T | TTATACAT others(1): Show |
intron_variant | MODIFIER | HG03195.hp2 HG03516.hp1 NA18522.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0149a0001c0001t0001g0151a0001c0003t0001g0229 | 3 | 346 | 0.0087 | 8 | c.617 others(21): Show |
HACE1 | ENSG00000085382.12 | transcript | ENST00000262903.9 | protein_coding | 7/23 | chr6 | TogoVar | ||||||
HACE1_chr6_104723094_104864919 | 104811247 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01175.hp1 HG01243.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0283a0001c0001t0002g0003a0001c0001t0002g0006others(7): Show | 10 | 346 | 0.0289 | 8 | c.617 others(21): Show |
HACE1 | ENSG00000085382.12 | transcript | ENST00000262903.9 | protein_coding | 7/23 | chr6 | TogoVar | ||||||
HACE1_chr6_104723094_104864919 | 104831980 | G | GAGGAAGG others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01257.hp1 HG01346.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0285a0001c0001t0001g0302a0001c0001t0002g0027others(7): Show | 10 | 346 | 0.0289 | 8 | c.534 others(25): Show |
HACE1 | ENSG00000085382.12 | transcript | ENST00000262903.9 | protein_coding | 6/23 | chr6 | TogoVar | ||||||
HACE1_chr6_104723094_104864919 | 104852199 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02965.hp2 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0145a0001c0001t0001g0146a0001c0001t0002g0009 | 3 | 346 | 0.0087 | 8 | c.131 others(23): Show |
HACE1 | ENSG00000085382.12 | transcript | ENST00000262903.9 | protein_coding | 2/23 | chr6 | TogoVar | ||||||
HACE1_chr6_104723094_104864919 | 104852228 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01516.hp2 HG02622.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0154a0001c0001t0001g0155a0001c0001t0001g0156others(14): Show | 17 | 346 | 0.0491 | 8 | c.131 others(21): Show |
HACE1 | ENSG00000085382.12 | transcript | ENST00000262903.9 | protein_coding | 2/23 | chr6 | TogoVar | ||||||
HADHA_chr2_26185635_26249632 | 26229348 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00639.hp1 HG00639.hp2 others(27): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0018a0001c0001t0001g0045others(23): Show | 30 | 274 | 0.1095 | 8 | c.676 others(23): Show |
HADHA | ENSG00000084754.12 | transcript | ENST00000380649.8 | protein_coding | 7/19 | chr2 | TogoVar | ||||||
HADHA_chr2_26185635_26249632 | 26229348 | G | GCGCACAC others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02615.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0113a0001c0001t0001g0186 | 4 | 274 | 0.0146 | 8 | c.676 others(23): Show |
HADHA | ENSG00000084754.12 | transcript | ENST00000380649.8 | protein_coding | 7/19 | chr2 | TogoVar | ||||||
HADHA_chr2_26185635_26249632 | 26236359 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 NA18993.hp2 NA19057.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0207a0001c0002t0002g0216a0001c0002t0004g0212 | 3 | 274 | 0.0110 | 8 | c.314 others(23): Show |
HADHA | ENSG00000084754.12 | transcript | ENST00000380649.8 | protein_coding | 4/19 | chr2 | TogoVar | ||||||
HADHB_chr2_26239939_26295465 | 26253857 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG00735.hp1 others(28): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0006a0001c0001t0001g0066a0001c0001t0001g0067others(26): Show | 31 | 290 | 0.1069 | 8 | c.-8- others(21): Show |
HADHB | ENSG00000138029.14 | transcript | ENST00000317799.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
HADHB_chr2_26239939_26295465 | 26285739 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00738.hp1 others(35): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0005a0001c0003t0001g0008a0001c0003t0001g0009others(30): Show | 38 | 290 | 0.1310 | 8 | c.138 others(25): Show |
HADHB | ENSG00000138029.14 | transcript | ENST00000317799.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
HADH_chr4_107984889_108040171 | 108022205 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01243.hp1 HG02004.hp2 others(8): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0003c0003t0001a0004c0004t0001 | a0001c0001t0001g0016a0001c0001t0001g0036a0001c0001t0001g0037others(6): Show | 11 | 304 | 0.0362 | 8 | c.547 others(25): Show |
HADH | ENSG00000138796.18 | transcript | ENST00000309522.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
HADH_chr4_107984889_108040171 | 108037975 | A | AAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01884.hp1 others(13): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0007 | a0001c0001t0001a0002c0002t0002a0006c0007t0002 | a0001c0001t0001g0031a0001c0001t0001g0194a0001c0001t0001g0197others(9): Show | 16 | 304 | 0.0526 | 8 | c.*36 others(19): Show |
HADH | ENSG00000138796.18 | transcript | ENST00000309522.8 | protein_coding | 2805 | chr4 | TogoVar | ||||||
HADH_chr4_107984889_108040171 | 108039253 | T | TTATTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01884.hp1 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0031a0001c0001t0001g0194a0002c0002t0002g0005others(11): Show | 20 | 304 | 0.0658 | 8 | c.*48 others(19): Show |
HADH | ENSG00000138796.18 | transcript | ENST00000309522.8 | protein_coding | 4083 | chr4 | TogoVar | ||||||
HAGH_chr16_1802629_1831825 | 1814930 | T | TACACAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00438.hp2 others(53): Show |
a0001a0010 | a0001c0001a0010c0012 | a0001c0001t0003a0001c0001t0013a0001c0001t0014others(3): Show | a0001c0001t0003g0002a0001c0001t0003g0009a0001c0001t0003g0010others(34): Show | 56 | 436 | 0.1284 | 8 | c.747 others(25): Show |
HAGH | ENSG00000063854.13 | transcript | ENST00000397356.8 | protein_coding | 7/8 | chr16 | TogoVar | ||||||
HAGH_chr16_1802629_1831825 | 1830917 | T | TACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG01109.hp2 others(24): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0007 | a0001c0001t0002a0001c0001t0004a0001c0001t0016others(2): Show | a0001c0001t0002g0014a0001c0001t0002g0025a0001c0001t0002g0026others(21): Show | 27 | 436 | 0.0619 | 8 | c.-41 others(19): Show |
HAGH | ENSG00000063854.13 | transcript | ENST00000397356.8 | protein_coding | 4093 | chr16 | TogoVar | ||||||
HAGH_chr16_1802629_1831825 | 1830944 | A | ACACACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG01934.hp1 HG02015.hp2 others(24): Show |
a0001a0007a0009 | a0001c0001a0007c0013a0009c0015 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0212a0001c0001t0005g0005others(14): Show | 27 | 436 | 0.0619 | 8 | c.-41 others(19): Show |
HAGH | ENSG00000063854.13 | transcript | ENST00000397356.8 | protein_coding | 4120 | chr16 | TogoVar | ||||||
HAL_chr12_95967662_96001344 | 95992868 | G | GCCCTCCC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp2 others(92): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0015others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0055a0001c0001t0001g0095a0001c0001t0001g0096others(60): Show | 95 | 418 | 0.2273 | 8 | c.590 others(21): Show |
HAL | ENSG00000084110.11 | transcript | ENST00000261208.8 | protein_coding | 8/20 | chr12 | TogoVar | ||||||
HAMP_chr19_35277528_35290143 | 35289818 | C | CATAAATA others(1): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG01255.hp1 HG01255.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(4): Show | 36 | 448 | 0.0804 | 8 | c.*47 others(19): Show |
HAMP | ENSG00000105697.9 | transcript | ENST00000222304.5 | protein_coding | 4676 | chr19 | TogoVar | ||||||
HAND2_chr4_173521091_173535229 | 173523993 | G | GCACACAC others(1): Show |
downstream_gene_variant | MODIFIER | HG02738.hp1 HG02895.hp2 HG03471.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006 | a0001c0001t0001g0001a0001c0001t0004g0004a0001c0001t0006g0040 | 4 | 460 | 0.0087 | 8 | c.*32 others(19): Show |
HAND2 | ENSG00000164107.9 | transcript | ENST00000359562.4 | protein_coding | 2097 | chr4 | TogoVar | ||||||
HAND2_chr4_173521091_173535229 | 173523993 | G | GCGCACAC others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00544.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0004g0004others(5): Show | 20 | 460 | 0.0435 | 8 | c.*32 others(19): Show |
HAND2 | ENSG00000164107.9 | transcript | ENST00000359562.4 | protein_coding | 2097 | chr4 | TogoVar | ||||||
HAND2_chr4_173521091_173535229 | 173523993 | G | GCGCGCAC others(1): Show |
downstream_gene_variant | MODIFIER | HG01256.hp2 HG01433.hp1 HG02132.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0001a0001c0002t0004g0005 | 3 | 460 | 0.0065 | 8 | c.*32 others(19): Show |
HAND2 | ENSG00000164107.9 | transcript | ENST00000359562.4 | protein_coding | 2097 | chr4 | TogoVar | ||||||
HAO1_chr20_7877985_7945458 | 7924223 | G | GTTGTTTG others(1): Show |
intron_variant | MODIFIER | HG02683.hp1 HG02735.hp2 HG03942.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200a0001c0001t0001g0201a0001c0001t0001g0202others(1): Show | 4 | 348 | 0.0115 | 8 | c.290 others(25): Show |
HAO1 | ENSG00000101323.5 | transcript | ENST00000378789.4 | protein_coding | 2/7 | chr20 | TogoVar | ||||||
HAO1_chr20_7877985_7945458 | 7936503 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01257.hp1 HG01258.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003a0001c0001t0001g0024a0001c0001t0001g0039others(21): Show | 25 | 348 | 0.0718 | 8 | c.138 others(25): Show |
HAO1 | ENSG00000101323.5 | transcript | ENST00000378789.4 | protein_coding | 1/7 | chr20 | TogoVar | ||||||
HAO1_chr20_7877985_7945458 | 7936550 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02559.hp2 HG02976.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0021a0001c0002t0001g0016a0001c0002t0001g0017others(2): Show | 5 | 348 | 0.0144 | 8 | c.138 others(25): Show |
HAO1 | ENSG00000101323.5 | transcript | ENST00000378789.4 | protein_coding | 1/7 | chr20 | TogoVar | ||||||
HAO2_chr1_119363785_119399130 | 119365059 | T | TCACACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 HG02622.hp2 HG02818.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0002 | a0001c0001t0001g0039a0001c0001t0001g0100a0001c0001t0001g0159others(5): Show | 10 | 428 | 0.0234 | 8 | c.-38 others(19): Show |
HAO2 | ENSG00000116882.15 | transcript | ENST00000325945.4 | protein_coding | 3725 | chr1 | TogoVar | ||||||
HAP1_chr17_41717640_41739643 | 41729549 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00733.hp1 others(25): Show |
a0002a0005a0006others(3): Show | a0002c0002a0005c0005a0006c0006others(3): Show | a0002c0002t0001a0005c0005t0014a0006c0006t0016others(3): Show | a0002c0002t0001g0021a0002c0002t0001g0023a0002c0002t0001g0025others(25): Show | 28 | 374 | 0.0749 | 8 | c.107 others(27): Show |
HAP1 | ENSG00000173805.16 | transcript | ENST00000347901.9 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
HAP1_chr17_41717640_41739643 | 41730031 | A | AAGAAAGA others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02451.hp2 others(14): Show |
a0001a0003a0005others(3): Show | a0001c0001a0003c0003a0005c0005others(3): Show | a0001c0001t0001a0003c0003t0001a0005c0005t0005others(3): Show | a0001c0001t0001g0175a0001c0001t0001g0215a0001c0001t0001g0331others(13): Show | 17 | 374 | 0.0455 | 8 | c.106 others(27): Show |
HAP1 | ENSG00000173805.16 | transcript | ENST00000347901.9 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
HAP1_chr17_41717640_41739643 | 41730084 | A | AAAGAAAA others(1): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01952.hp2 HG03834.hp1 others(1): Show |
a0003a0007 | a0003c0003a0007c0008 | a0003c0003t0001a0007c0008t0001 | a0003c0003t0001g0211a0003c0003t0001g0212a0003c0003t0001g0280others(1): Show | 4 | 374 | 0.0107 | 8 | c.106 others(27): Show |
HAP1 | ENSG00000173805.16 | transcript | ENST00000347901.9 | protein_coding | 6/10 | chr17 | TogoVar |