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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HDAC8_chrX_72324516_72577843 | 72428060 | T | TAGGATTT others(10): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0126 | 1 | 208 | 0.0048 | 17 | c.100 others(38): Show |
HDAC8 | ENSG00000147099.21 | transcript | ENST00000373573.9 | protein_coding | 9/10 | chrX | TogoVar | |||||||
HDAC9_chr7_18490749_19007416 | 18795257 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02109.hp2 HG02572.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0007a0001c0001t0035others(2): Show | a0001c0001t0001g0072 a0001c0001t0007g0154 a0001c0001t0035g0054 others(2): Show |
5 | 156 | 0.0321 | 17 | c.232 others(36): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 17/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18993145 | T | TAGTGACC others(10): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02055.hp2 HG02258.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0007a0001c0001t0013a0001c0001t0014others(9): Show | a0001c0001t0007g0041 a0001c0001t0007g0047 a0001c0001t0007g0151 others(12): Show |
15 | 156 | 0.0962 | 17 | c.317 others(36): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 25/25 | chr7 | TogoVar | |||||||
HDAC9_chr7_18490749_19007416 | 18993145 | T | TAGTGACC others(10): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00639.hp1 HG00639.hp2 others(81): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(39): Show | a0001c0001t0001g0014 a0001c0001t0001g0060 a0001c0001t0001g0061 others(81): Show |
84 | 156 | 0.5385 | 17 | c.317 others(36): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 25/25 | chr7 | TogoVar | |||||||
HDGFL2_chr19_4467297_4507207 | 4484666 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0012 | a0012c0037 | a0012c0037t0004 | a0012c0037t0004g0022 | 1 | 358 | 0.0028 | 17 | c.289 others(34): Show |
HDGFL2 | ENSG00000167674.15 | transcript | ENST00000616600.5 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HDGFL3_chr15_83122753_83212823 | 83198054 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03516.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0053 | a0001c0001t0008g0018 a0001c0001t0053g0120 |
2 | 246 | 0.0081 | 17 | c.84+ others(32): Show |
HDGFL3 | ENSG00000166503.9 | transcript | ENST00000299633.7 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HDHD3_chr9_113368422_113381986 | 113381760 | C | CTTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG01081.hp1 HG01081.hp2 others(26): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(10): Show |
29 | 464 | 0.0625 | 17 | c.-53 others(28): Show |
HDHD3 | ENSG00000119431.10 | transcript | ENST00000374180.4 | protein_coding | 4775 | chr9 | TogoVar | |||||||
HDHD5_chr22_17132520_17164277 | 17157114 | A | ACACACAC others(10): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0221 | 1 | 422 | 0.0024 | 17 | c.126 others(34): Show |
HDHD5 | ENSG00000069998.12 | transcript | ENST00000336737.8 | protein_coding | 1/7 | chr22 | TogoVar | |||||||
HDX_chrX_84312878_84507453 | 84476598 | G | GAAAAAGA others(10): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03209.hp1 |
a0004 | a0004c0008a0004c0009 | a0004c0008t0001a0004c0009t0010 | a0004c0008t0001g0245 a0004c0009t0010g0244 |
2 | 269 | 0.0074 | 17 | c.1-1 others(30): Show |
HDX | ENSG00000165259.14 | transcript | ENST00000373177.3 | protein_coding | 2/10 | chrX | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73506804 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0246 a0001c0001t0003g0248 |
2 | 368 | 0.0054 | 17 | c.188 others(34): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 9/17 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73524310 | A | AAAAAAAT others(10): Show |
intron_variant | MODIFIER | HG03688.hp2 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0353 a0001c0001t0004g0354 |
2 | 368 | 0.0054 | 17 | c.-72 others(34): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 2/17 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73524310 | A | AAATATAT others(10): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0355 | 1 | 368 | 0.0027 | 17 | c.-72 others(34): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 2/17 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73524310 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0018 | a0018c0018 | a0018c0018t0011 | a0018c0018t0011g0041 | 1 | 368 | 0.0027 | 17 | c.-72 others(34): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 2/17 | chr14 | TogoVar | |||||||
HECTD1_chr14_31095117_31212793 | 31134042 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01175.hp2 HG01891.hp1 others(15): Show |
a0001 | a0001c0002a0001c0003a0001c0008others(1): Show | a0001c0002t0001a0001c0002t0010a0001c0003t0001others(2): Show | a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0001g0310 others(15): Show |
18 | 342 | 0.0526 | 17 | c.357 others(34): Show |
HECTD1 | ENSG00000092148.14 | transcript | ENST00000399332.6 | protein_coding | 22/42 | chr14 | TogoVar | |||||||
HECTD4_chr12_112155195_112387431 | 112189550 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0038 | a0001c0038t0008 | a0001c0038t0008g0251 | 1 | 270 | 0.0037 | 17 | c.947 others(36): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 60/75 | chr12 | TogoVar | |||||||
HECW1_chr7_43107647_43571001 | 43226697 | A | AGGCCAGG others(10): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01884.hp1 HG02109.hp1 others(12): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0018others(10): Show | a0001c0001t0001g0078 a0001c0001t0005g0060 a0001c0001t0005g0163 others(12): Show |
15 | 182 | 0.0824 | 17 | c.-31 others(36): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HECW1_chr7_43107647_43571001 | 43385259 | C | CCCCTCTC others(10): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG01884.hp2 others(6): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0012others(3): Show | a0001c0001t0001a0001c0002t0007a0001c0002t0023others(5): Show | a0001c0001t0001g0117 a0001c0002t0007g0127 a0001c0002t0023g0134 others(6): Show |
9 | 182 | 0.0495 | 17 | c.556 others(36): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HECW2_chr2_196189072_196598554 | 196423715 | T | TGTGTGTG others(10): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 112 | 0.0089 | 17 | c.292 others(34): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 2/28 | chr2 | TogoVar | |||||||
HECW2_chr2_196189072_196598554 | 196437611 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02630.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005a0001c0016 | a0001c0001t0005a0001c0001t0013a0001c0005t0012others(1): Show | a0001c0001t0005g0052 a0001c0001t0013g0063 a0001c0005t0012g0056 others(1): Show |
4 | 112 | 0.0357 | 17 | c.-35 others(34): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
HECW2_chr2_196189072_196598554 | 196500545 | T | TAACAAAG others(10): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0039 | 1 | 112 | 0.0089 | 17 | c.-35 others(36): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
HELB_chr12_66297493_66343199 | 66327066 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0005 | a0005c0015 | a0005c0015t0001 | a0005c0015t0001g0179 | 1 | 390 | 0.0026 | 17 | c.267 others(36): Show |
HELB | ENSG00000127311.10 | transcript | ENST00000247815.9 | protein_coding | 11/12 | chr12 | TogoVar | |||||||
HELLS_chr10_94540788_94607099 | 94545728 | A | AGCGGGGC others(10): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0045 |
2 | 358 | 0.0056 | 17 | c.-19 others(26): Show |
HELLS | ENSG00000119969.16 | transcript | ENST00000348459.10 | protein_coding | 59 | chr10 | TogoVar | |||||||
HELQ_chr4_83402346_83460823 | 83405907 | C | CAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG03540.hp1 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0122 | 1 | 316 | 0.0032 | 17 | c.*15 others(28): Show |
HELQ | ENSG00000163312.11 | transcript | ENST00000295488.8 | protein_coding | 1438 | chr4 | TogoVar | |||||||
HELT_chr4_185013490_185025953 | 185023078 | T | TCTCTCTC others(10): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 NA18747.hp1 NA18943.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 5 | 454 | 0.0110 | 17 | c.*23 others(28): Show |
HELT | ENSG00000187821.9 | transcript | ENST00000515777.6 | protein_coding | 2126 | chr4 | TogoVar | |||||||
HELZ_chr17_67065444_67250196 | 67212314 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01069.hp2 HG01070.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(5): Show | a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 others(20): Show |
23 | 274 | 0.0839 | 17 | c.247 others(34): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 5/32 | chr17 | TogoVar | |||||||
HEMGN_chr9_97921791_97943172 | 97923065 | C | CAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 314 | 0.0032 | 17 | c.*43 others(28): Show |
HEMGN | ENSG00000136929.13 | transcript | ENST00000616898.2 | protein_coding | 3725 | chr9 | TogoVar | |||||||
HEPHL1_chr11_94016354_94119208 | 94042875 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0288 | 1 | 368 | 0.0027 | 17 | c.171 others(34): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HEPHL1_chr11_94016354_94119208 | 94042883 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 368 | 0.0027 | 17 | c.171 others(34): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HEPHL1_chr11_94016354_94119208 | 94042883 | A | AAAAAACA others(10): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(119): Show |
a0001a0003a0005others(6): Show | a0001c0001a0001c0006a0001c0016others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0002 a0001c0001t0001g0026 a0001c0001t0001g0039 others(117): Show |
122 | 368 | 0.3315 | 17 | c.171 others(34): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HERC1_chr15_63603618_63838948 | 63720103 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01168.hp2 HG01169.hp2 others(8): Show |
a0001a0002a0004 | a0001c0010a0002c0003a0004c0007 | a0001c0010t0001a0002c0003t0001a0002c0003t0002others(1): Show | a0001c0010t0001g0082 a0001c0010t0001g0086 a0002c0003t0001g0026 others(8): Show |
11 | 216 | 0.0509 | 17 | c.374 others(36): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 19/77 | chr15 | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63821726 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0018 | a0002c0018t0002 | a0002c0018t0002g0067 | 1 | 216 | 0.0046 | 17 | c.-27 others(36): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63826800 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0108 | 1 | 216 | 0.0046 | 17 | c.-27 others(34): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63826804 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0026 | a0001c0026t0001 | a0001c0026t0001g0152 | 1 | 216 | 0.0046 | 17 | c.-27 others(34): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63826806 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02735.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 a0001c0001t0001g0167 |
2 | 216 | 0.0093 | 17 | c.-27 others(34): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | |||||||
HERC4_chr10_67916905_68080283 | 67927430 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 360 | 0.0028 | 17 | c.283 others(36): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 23/24 | chr10 | TogoVar | |||||||
HERC4_chr10_67916905_68080283 | 68059841 | A | ATTATATA others(10): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 360 | 0.0028 | 17 | c.226 others(36): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 3/24 | chr10 | TogoVar | |||||||
HERC6_chr4_88373852_88448097 | 88379685 | C | CAAATATA others(10): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 NA18522.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0143 a0001c0001t0001g0144 a0004c0004t0001g0145 |
3 | 174 | 0.0172 | 17 | c.199 others(32): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HERC6_chr4_88373852_88448097 | 88379776 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG02165.hp1 others(5): Show |
a0001a0002a0012 | a0001c0001a0002c0002a0012c0013 | a0001c0001t0001a0002c0002t0001a0012c0013t0001 | a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0001g0160 others(5): Show |
8 | 174 | 0.0460 | 17 | c.199 others(32): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HERC6_chr4_88373852_88448097 | 88379787 | C | CATATAAA others(10): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 NA18522.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0143 a0001c0001t0001g0144 a0004c0004t0001g0145 |
3 | 174 | 0.0172 | 17 | c.199 others(32): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HERC6_chr4_88373852_88448097 | 88380026 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0073 | 1 | 174 | 0.0058 | 17 | c.199 others(32): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HEXA_chr15_72335924_72381014 | 72340874 | C | CACACACA others(10): Show |
downstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 354 | 0.0028 | 17 | c.*32 others(28): Show |
HEXA | ENSG00000213614.11 | transcript | ENST00000268097.10 | protein_coding | 49 | chr15 | TogoVar | |||||||
HEXD_chr17_82413347_82447645 | 82433091 | A | AAAAAAAT others(10): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0118 | 1 | 400 | 0.0025 | 17 | c.283 others(32): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HEXD_chr17_82413347_82447645 | 82433128 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0338 | 1 | 400 | 0.0025 | 17 | c.283 others(32): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HEXD_chr17_82413347_82447645 | 82433128 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0130 | 1 | 400 | 0.0025 | 17 | c.283 others(32): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HEXD_chr17_82413347_82447645 | 82441329 | A | AGGGGGCA others(10): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0295 a0001c0001t0001g0311 |
2 | 400 | 0.0050 | 17 | c.116 others(32): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HFM1_chr1_91255766_91409837 | 91264361 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02258.hp1 HG02273.hp2 others(19): Show |
a0001a0002a0009 | a0001c0001a0002c0003a0009c0015 | a0001c0001t0001a0002c0003t0001a0009c0015t0001 | a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0136 others(19): Show |
22 | 362 | 0.0608 | 17 | c.397 others(36): Show |
HFM1 | ENSG00000162669.16 | transcript | ENST00000370425.8 | protein_coding | 36/38 | chr1 | TogoVar | |||||||
HFM1_chr1_91255766_91409837 | 91319012 | T | TACTAACA others(10): Show |
intron_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 362 | 0.0028 | 17 | c.281 others(32): Show |
HFM1 | ENSG00000162669.16 | transcript | ENST00000370425.8 | protein_coding | 25/38 | chr1 | TogoVar | |||||||
HFM1_chr1_91255766_91409837 | 91364632 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046 | 1 | 362 | 0.0028 | 17 | c.168 others(38): Show |
HFM1 | ENSG00000162669.16 | transcript | ENST00000370425.8 | protein_coding | 13/38 | chr1 | TogoVar | |||||||
HFM1_chr1_91255766_91409837 | 91364632 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0039 | 1 | 362 | 0.0028 | 17 | c.168 others(38): Show |
HFM1 | ENSG00000162669.16 | transcript | ENST00000370425.8 | protein_coding | 13/38 | chr1 | TogoVar | |||||||
HGSNAT_chr8_43135464_43207855 | 43195655 | T | TGGAGGAG others(10): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0170 | 1 | 234 | 0.0043 | 17 | c.146 others(36): Show |
HGSNAT | ENSG00000165102.15 | transcript | ENST00000379644.9 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |