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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HECTD1_chr14_31095117_31212793 | 31134042 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01884.hp1 HG06807.hp2 NA18981.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0050a0001c0002t0001g0083a0001c0002t0001g0094 | 3 | 342 | 0.0088 | 22 | c.357 others(39): Show |
HECTD1 | ENSG00000092148.14 | transcript | ENST00000399332.6 | protein_coding | 22/42 | chr14 | TogoVar | ||||||
HECTD4_chr12_112155195_112387431 | 112323993 | C | CCTTTCCT others(15): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 270 | 0.0037 | 22 | c.178 others(39): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/75 | chr12 | TogoVar | ||||||
HECTD4_chr12_112155195_112387431 | 112324017 | C | CTCTTTCT others(15): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 270 | 0.0037 | 22 | c.178 others(39): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/75 | chr12 | TogoVar | ||||||
HECTD4_chr12_112155195_112387431 | 112335143 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02132.hp1 HG02622.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0004a0001c0002t0001a0001c0009t0016others(1): Show | a0001c0001t0004g0068a0001c0002t0001g0196a0001c0002t0001g0225others(18): Show | 21 | 270 | 0.0778 | 22 | c.178 others(41): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/75 | chr12 | TogoVar | ||||||
HECTD4_chr12_112155195_112387431 | 112387128 | T | TACACACA others(15): Show |
upstream_gene_variant | MODIFIER | HG02922.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0012 | a0001c0001t0006g0257a0001c0001t0012g0151 | 2 | 270 | 0.0074 | 22 | c.-50 others(33): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 4698 | chr12 | TogoVar | ||||||
HECW1_chr7_43107647_43571001 | 43385259 | C | CTCCCCTC others(15): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01943.hp1 NA19066.hp1 |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0003a0002c0005t0001a0002c0005t0002 | a0001c0002t0003g0066a0002c0005t0001g0153a0002c0005t0002g0007 | 3 | 182 | 0.0165 | 22 | c.556 others(41): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 6/29 | chr7 | TogoVar | ||||||
HECW2_chr2_196189072_196598554 | 196278131 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG02723.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0003t0004 | a0001c0002t0003g0028a0001c0003t0004g0074 | 2 | 112 | 0.0179 | 22 | c.313 others(39): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 15/28 | chr2 | TogoVar | ||||||
HECW2_chr2_196189072_196598554 | 196278133 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0013 | a0001c0001t0005g0052a0001c0001t0013g0063 | 2 | 112 | 0.0179 | 22 | c.313 others(39): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 15/28 | chr2 | TogoVar | ||||||
HECW2_chr2_196189072_196598554 | 196286387 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0021 | 1 | 112 | 0.0089 | 22 | c.300 others(41): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 14/28 | chr2 | TogoVar | ||||||
HEG1_chr3_124960710_125060997 | 124987924 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02717.hp2 HG03209.hp1 |
a0019a0029a0034 | a0019c0023a0029c0047a0034c0066 | a0019c0023t0031a0029c0047t0108a0034c0066t0068 | a0019c0023t0031g0192a0029c0047t0108g0018a0034c0066t0068g0010 | 3 | 362 | 0.0083 | 22 | c.373 others(41): Show |
HEG1 | ENSG00000173706.15 | transcript | ENST00000311127.9 | protein_coding | 14/16 | chr3 | TogoVar | ||||||
HEG1_chr3_124960710_125060997 | 124987952 | C | CACACACA others(15): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0160 | 1 | 362 | 0.0028 | 22 | c.373 others(41): Show |
HEG1 | ENSG00000173706.15 | transcript | ENST00000311127.9 | protein_coding | 14/16 | chr3 | TogoVar | ||||||
HELLS_chr10_94540788_94607099 | 94579464 | G | GAACTACT others(15): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0166 | 1 | 358 | 0.0028 | 22 | c.103 others(41): Show |
HELLS | ENSG00000119969.16 | transcript | ENST00000348459.10 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
HELT_chr4_185013490_185025953 | 185023078 | T | TCTCTCTC others(15): Show |
downstream_gene_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 454 | 0.0022 | 22 | c.*23 others(33): Show |
HELT | ENSG00000187821.9 | transcript | ENST00000515777.6 | protein_coding | 2126 | chr4 | TogoVar | ||||||
HELZ_chr17_67065444_67250196 | 67089668 | T | TATATAGA others(15): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01081.hp1 HG01934.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0059a0002c0002t0003 | a0001c0001t0001g0182a0001c0001t0059g0226a0002c0002t0003g0025others(1): Show | 4 | 274 | 0.0146 | 22 | c.524 others(41): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 31/32 | chr17 | TogoVar | ||||||
HELZ_chr17_67065444_67250196 | 67089668 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01243.hp1 HG02451.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0021a0002c0002t0003 | a0001c0001t0001g0198a0001c0001t0001g0222a0001c0001t0001g0234others(3): Show | 6 | 274 | 0.0219 | 22 | c.524 others(41): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 31/32 | chr17 | TogoVar | ||||||
HELZ_chr17_67065444_67250196 | 67089668 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03209.hp1 NA18942.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0010a0002c0002t0003others(1): Show | a0001c0001t0001g0184a0001c0001t0001g0185a0001c0001t0001g0220others(3): Show | 6 | 274 | 0.0219 | 22 | c.524 others(41): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 31/32 | chr17 | TogoVar | ||||||
HELZ_chr17_67065444_67250196 | 67089668 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0036 | 1 | 274 | 0.0037 | 22 | c.524 others(41): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 31/32 | chr17 | TogoVar | ||||||
HELZ_chr17_67065444_67250196 | 67089668 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG01256.hp2 HG02109.hp1 NA19074.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0001c0001t0010a0002c0002t0003 | a0001c0001t0008g0246a0001c0001t0010g0201a0002c0002t0003g0037 | 3 | 274 | 0.0110 | 22 | c.524 others(41): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 31/32 | chr17 | TogoVar | ||||||
HELZ_chr17_67065444_67250196 | 67089668 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0208 | 1 | 274 | 0.0037 | 22 | c.524 others(41): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 31/32 | chr17 | TogoVar | ||||||
HELZ_chr17_67065444_67250196 | 67089668 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG00597.hp1 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0181a0001c0001t0011g0189 | 2 | 274 | 0.0073 | 22 | c.524 others(41): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 31/32 | chr17 | TogoVar | ||||||
HELZ_chr17_67065444_67250196 | 67089668 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0026 | 1 | 274 | 0.0037 | 22 | c.524 others(41): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 31/32 | chr17 | TogoVar | ||||||
HELZ_chr17_67065444_67250196 | 67123815 | C | CTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02922.hp2 NA20300.hp1 |
a0001 | a0001c0006 | a0001c0006t0022 | a0001c0006t0022g0014a0001c0006t0022g0015 | 2 | 274 | 0.0073 | 22 | c.343 others(39): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 25/32 | chr17 | TogoVar | ||||||
HEMK1_chr3_50564522_50601166 | 50591663 | C | CGTGTGTG others(15): Show |
3_prime_UTR_variant | MODIFIER | HG03654.hp1 HG04199.hp1 NA19012.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0066a0001c0002t0125a0001c0002t0129 | a0001c0001t0066g0041a0001c0002t0125g0010a0001c0002t0129g0002 | 3 | 320 | 0.0094 | 22 | c.*11 others(35): Show |
HEMK1 | ENSG00000114735.10 | transcript | ENST00000232854.9 | protein_coding | 11/11 | 11281 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
HEPHL1_chr11_94016354_94119208 | 94042875 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG03579.hp2 NA18522.hp1 |
a0001a0011 | a0001c0001a0011c0031 | a0001c0001t0001a0011c0031t0001 | a0001c0001t0001g0123a0011c0031t0001g0124 | 2 | 368 | 0.0054 | 22 | c.171 others(39): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HEPHL1_chr11_94016354_94119208 | 94078446 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG00423.hp1 HG03139.hp1 HG04228.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0007t0004 | a0001c0001t0001g0137a0001c0001t0002g0035a0001c0007t0004g0023 | 3 | 368 | 0.0082 | 22 | c.171 others(41): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HEPHL1_chr11_94016354_94119208 | 94093971 | G | GATAGATA others(15): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0132 | 1 | 368 | 0.0027 | 22 | c.243 others(39): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HEPHL1_chr11_94016354_94119208 | 94093971 | G | GATAGATA others(15): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0005 | a0005c0008 | a0005c0008t0010 | a0005c0008t0010g0054 | 1 | 368 | 0.0027 | 22 | c.243 others(39): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HEPHL1_chr11_94016354_94119208 | 94093971 | G | GATATATA others(15): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01070.hp2 HG01123.hp2 others(10): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0004c0004t0001others(2): Show | a0001c0001t0001g0121a0001c0001t0001g0123a0001c0001t0001g0231others(10): Show | 13 | 368 | 0.0353 | 22 | c.243 others(39): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HEPHL1_chr11_94016354_94119208 | 94115572 | C | CATATATA others(15): Show |
downstream_gene_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0280 | 1 | 368 | 0.0027 | 22 | c.*36 others(33): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 1365 | chr11 | TogoVar | ||||||
HEPH_chrX_66159247_66272389 | 66200241 | G | GGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0013 | 1 | 218 | 0.0046 | 22 | c.186 others(39): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
HERC1_chr15_63603618_63838948 | 63720103 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00738.hp2 others(25): Show |
a0001a0011 | a0001c0001a0001c0006a0001c0008others(2): Show | a0001c0001t0001a0001c0006t0001a0001c0008t0001others(2): Show | a0001c0001t0001g0111a0001c0001t0001g0112a0001c0001t0001g0117others(24): Show | 28 | 216 | 0.1296 | 22 | c.374 others(41): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 19/77 | chr15 | TogoVar | ||||||
HERC1_chr15_63603618_63838948 | 63737516 | G | GATATATA others(15): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0079 | 1 | 216 | 0.0046 | 22 | c.252 others(41): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 12/77 | chr15 | TogoVar | ||||||
HERC1_chr15_63603618_63838948 | 63744164 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0018 | a0002c0018t0002 | a0002c0018t0002g0067 | 1 | 216 | 0.0046 | 22 | c.252 others(41): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 12/77 | chr15 | TogoVar | ||||||
HERC2_chr15_28106040_28327179 | 28279615 | C | CCACACAC others(15): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0004 | a0004c0012 | a0004c0012t0002 | a0004c0012t0002g0004 | 1 | 250 | 0.0040 | 22 | c.542 others(37): Show |
HERC2 | ENSG00000128731.18 | transcript | ENST00000261609.13 | protein_coding | 5/92 | chr15 | TogoVar | ||||||
HERPUD1_chr16_56927142_56949864 | 56945855 | C | CCCCCGCC others(15): Show |
downstream_gene_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 428 | 0.0023 | 22 | c.*25 others(33): Show |
HERPUD1 | ENSG00000051108.15 | transcript | ENST00000439977.7 | protein_coding | 992 | chr16 | TogoVar | ||||||
HERPUD2_chr7_35627659_35700135 | 35629727 | T | TATGTCAC others(15): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(81): Show |
a0001a0005a0006 | a0001c0001a0005c0005a0006c0007 | a0001c0001t0003a0001c0001t0007a0001c0001t0011others(4): Show | a0001c0001t0003g0119a0001c0001t0003g0120a0001c0001t0003g0121others(81): Show | 84 | 392 | 0.2143 | 22 | c.*39 others(33): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 2931 | chr7 | TogoVar | ||||||
HERPUD2_chr7_35627659_35700135 | 35631799 | T | TATATAAA others(15): Show |
downstream_gene_variant | MODIFIER | HG03491.hp2 HG03669.hp1 HG04204.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0371a0002c0002t0002g0372a0002c0002t0002g0373 | 3 | 392 | 0.0077 | 22 | c.*18 others(33): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 859 | chr7 | TogoVar | ||||||
HERPUD2_chr7_35627659_35700135 | 35631810 | T | TTATATAT others(15): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 392 | 0.0026 | 22 | c.*18 others(33): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 848 | chr7 | TogoVar | ||||||
HERPUD2_chr7_35627659_35700135 | 35631914 | T | TATAAATA others(15): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 392 | 0.0026 | 22 | c.*17 others(33): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 744 | chr7 | TogoVar | ||||||
HES1_chr3_194131148_194143732 | 194141600 | G | GCGGCGGG others(15): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(424): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(32): Show | 427 | 434 | 0.9839 | 22 | c.*33 others(33): Show |
HES1 | ENSG00000114315.4 | transcript | ENST00000232424.4 | protein_coding | 2869 | chr3 | TogoVar | ||||||
HEXA_chr15_72335924_72381014 | 72340841 | T | TCACACAC others(15): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG02523.hp2 HG03471.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0003c0004t0005 | a0001c0001t0001g0019a0001c0001t0001g0110a0001c0001t0001g0135others(3): Show | 6 | 354 | 0.0170 | 22 | c.*32 others(33): Show |
HEXA | ENSG00000213614.11 | transcript | ENST00000268097.10 | protein_coding | 82 | chr15 | TogoVar | ||||||
HEXD_chr17_82413347_82447645 | 82429296 | T | TGCATCAA others(15): Show |
intron_variant | MODIFIER | HG03130.hp1 NA19043.hp2 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0002a0001c0013t0002 | a0001c0001t0002g0026a0001c0013t0002g0027 | 2 | 400 | 0.0050 | 22 | c.282 others(37): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
HEXD_chr17_82413347_82447645 | 82433091 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0096 | 1 | 400 | 0.0025 | 22 | c.283 others(37): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
HEXD_chr17_82413347_82447645 | 82433091 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0100 | 1 | 400 | 0.0025 | 22 | c.283 others(37): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
HEY1_chr8_79759010_79772767 | 79769371 | A | ATCTTTTT others(15): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00438.hp2 others(87): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(6): Show | 90 | 460 | 0.1957 | 22 | c.-17 others(33): Show |
HEY1 | ENSG00000164683.19 | transcript | ENST00000354724.8 | protein_coding | 1605 | chr8 | TogoVar | ||||||
HFM1_chr1_91255766_91409837 | 91264361 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01258.hp2 HG01943.hp1 HG02055.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0007others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0007t0001others(1): Show | a0001c0001t0001g0061a0001c0001t0001g0193a0001c0001t0001g0292others(6): Show | 9 | 362 | 0.0249 | 22 | c.397 others(41): Show |
HFM1 | ENSG00000162669.16 | transcript | ENST00000370425.8 | protein_coding | 36/38 | chr1 | TogoVar | ||||||
HFM1_chr1_91255766_91409837 | 91408716 | T | TTCTTTCT others(15): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0178a0001c0002t0001g0050 | 2 | 362 | 0.0055 | 22 | c.-39 others(33): Show |
HFM1 | ENSG00000162669.16 | transcript | ENST00000370425.8 | protein_coding | 3880 | chr1 | TogoVar | ||||||
HGD_chr3_120623172_120687239 | 120624712 | G | GGAGAGAG others(15): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00597.hp1 HG00621.hp1 others(36): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0012others(34): Show | 39 | 374 | 0.1043 | 22 | c.*36 others(33): Show |
HGD | ENSG00000113924.12 | transcript | ENST00000283871.10 | protein_coding | 3459 | chr3 | TogoVar | ||||||
HGD_chr3_120623172_120687239 | 120630798 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01175.hp2 HG02559.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0059a0001c0001t0001g0162a0002c0002t0001g0260others(1): Show | 4 | 374 | 0.0107 | 22 | c.118 others(41): Show |
HGD | ENSG00000113924.12 | transcript | ENST00000283871.10 | protein_coding | 13/13 | chr3 | TogoVar | ||||||
HGF_chr7_81694010_81775047 | 81697198 | T | TTATATAT others(15): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 NA18966.hp2 NA18977.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0004 | a0001c0001t0002g0124a0001c0001t0002g0125a0001c0001t0002g0126others(2): Show | 5 | 272 | 0.0184 | 22 | c.*53 others(33): Show |
HGF | ENSG00000019991.18 | transcript | ENST00000222390.11 | protein_coding | 1811 | chr7 | TogoVar |