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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HDAC1_chr1_32287083_32338626 | 32316283 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03130.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 |
3 | 146 | 0.0206 | 21 | c.163 others(36): Show |
HDAC1 | ENSG00000116478.12 | transcript | ENST00000373548.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HDAC4_chr2_239043168_239406020 | 239295306 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 242 | 0.0041 | 21 | c.22+ others(38): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 2/26 | chr2 | TogoVar | |||||||
HDAC8_chrX_72324516_72577843 | 72400431 | T | TCAGTTGC others(14): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0151 | 1 | 208 | 0.0048 | 21 | c.100 others(42): Show |
HDAC8 | ENSG00000147099.21 | transcript | ENST00000373573.9 | protein_coding | 9/10 | chrX | TogoVar | |||||||
HDAC9_chr7_18490749_19007416 | 18507170 | A | ATATTATT others(14): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01891.hp1 HG02109.hp2 others(2): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0006a0001c0001t0020a0001c0001t0035others(2): Show | a0001c0001t0006g0142 a0001c0001t0020g0141 a0001c0001t0035g0054 others(2): Show |
5 | 156 | 0.0321 | 21 | c.22+ others(38): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18719331 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0004 | a0001c0004t0018 | a0001c0004t0018g0145 | 1 | 156 | 0.0064 | 21 | c.173 others(40): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 12/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18824044 | G | GGAAGAGG others(14): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01169.hp1 HG01891.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0003a0001c0001t0004a0001c0001t0052others(2): Show | a0001c0001t0003g0130 a0001c0001t0004g0083 a0001c0001t0052g0055 others(2): Show |
5 | 156 | 0.0321 | 21 | c.232 others(40): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 17/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18824044 | G | GGAAGAGG others(14): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02602.hp2 NA18986.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0009a0001c0002t0003 | a0001c0001t0003g0002 a0001c0001t0009g0127 a0001c0002t0003g0098 |
3 | 156 | 0.0192 | 21 | c.232 others(40): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 17/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18824044 | G | GGAAGAGG others(14): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0117 | 1 | 156 | 0.0064 | 21 | c.232 others(40): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 17/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18824084 | G | GAAGAAGA others(14): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0114 | 1 | 156 | 0.0064 | 21 | c.232 others(40): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 17/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDHD3_chr9_113368422_113381986 | 113381412 | C | CCTCCCCT others(14): Show |
upstream_gene_variant | MODIFIER | NA19091.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0006 | 1 | 464 | 0.0022 | 21 | c.-49 others(32): Show |
HDHD3 | ENSG00000119431.10 | transcript | ENST00000374180.4 | protein_coding | 4427 | chr9 | TogoVar | |||||||
HDHD3_chr9_113368422_113381986 | 113381760 | C | CTTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 464 | 0.0022 | 21 | c.-53 others(32): Show |
HDHD3 | ENSG00000119431.10 | transcript | ENST00000374180.4 | protein_coding | 4775 | chr9 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73506804 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | NA18946.hp2 NA18972.hp1 NA19060.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0123 a0001c0002t0001g0127 a0001c0002t0002g0284 others(1): Show |
4 | 368 | 0.0109 | 21 | c.188 others(38): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 9/17 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73506804 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01070.hp1 HG01099.hp1 others(20): Show |
a0001a0008a0019 | a0001c0002a0008c0013a0019c0030 | a0001c0002t0002a0001c0002t0003a0001c0002t0007others(3): Show | a0001c0002t0002g0195 a0001c0002t0002g0201 a0001c0002t0002g0209 others(20): Show |
23 | 368 | 0.0625 | 21 | c.188 others(38): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 9/17 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73524310 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0187 | 1 | 368 | 0.0027 | 21 | c.-72 others(38): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 2/17 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73524310 | A | AAAAAAAT others(14): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0188 | 1 | 368 | 0.0027 | 21 | c.-72 others(38): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 2/17 | chr14 | TogoVar | |||||||
HEATR5B_chr2_36975895_37089372 | 36984200 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 314 | 0.0032 | 21 | c.591 others(40): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 35/35 | chr2 | TogoVar | |||||||
HEATR5B_chr2_36975895_37089372 | 36984215 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0252 | 1 | 314 | 0.0032 | 21 | c.591 others(40): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 35/35 | chr2 | TogoVar | |||||||
HEATR5B_chr2_36975895_37089372 | 36984215 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA19065.hp2 NA19070.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0250 a0001c0002t0001g0253 |
2 | 314 | 0.0064 | 21 | c.591 others(40): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 35/35 | chr2 | TogoVar | |||||||
HEATR5B_chr2_36975895_37089372 | 37082086 | T | TTTTTTTT others(14): Show |
intron_variant | MODIFIER | NA18941.hp1 NA18959.hp2 NA19074.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0002 | a0001c0002t0001g0209 a0002c0003t0002g0049 a0002c0003t0002g0050 |
3 | 314 | 0.0096 | 21 | c.126 others(38): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 2/35 | chr2 | TogoVar | |||||||
HECW1_chr7_43107647_43571001 | 43327971 | T | TATTATTA others(14): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0012 | a0001c0012t0007 | a0001c0012t0007g0177 | 1 | 182 | 0.0055 | 21 | c.460 others(38): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HECW1_chr7_43107647_43571001 | 43430779 | T | TTTATTAT others(14): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG00673.hp1 others(35): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0064 a0001c0001t0001g0117 a0001c0001t0001g0160 others(35): Show |
38 | 182 | 0.2088 | 21 | c.802 others(38): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HECW1_chr7_43107647_43571001 | 43430779 | T | TTTATTAT others(14): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0029 | a0001c0029t0013 | a0001c0029t0013g0103 | 1 | 182 | 0.0055 | 21 | c.802 others(38): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HECW2_chr2_196189072_196598554 | 196423715 | T | TGTGTGTG others(14): Show |
intron_variant | MODIFIER | NA20752.hp1 NA20752.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0002t0001 | a0001c0001t0014g0005 a0001c0002t0001g0050 |
2 | 112 | 0.0179 | 21 | c.292 others(38): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 2/28 | chr2 | TogoVar | |||||||
HECW2_chr2_196189072_196598554 | 196582069 | A | AAATAATA others(14): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG02970.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0012a0001c0001t0028a0001c0005t0008 | a0001c0001t0012g0093 a0001c0001t0028g0112 a0001c0005t0008g0097 |
3 | 112 | 0.0268 | 21 | c.-36 others(40): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
HELZ2_chr20_63553086_63579239 | 63559479 | G | GAGTCAGG others(14): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02809.hp1 HG02896.hp2 others(2): Show |
a0013a0063a0078 | a0013c0113a0013c0115a0013c0133others(2): Show | a0013c0113t0078a0013c0115t0103a0013c0133t0104others(2): Show | a0013c0113t0078g0156 a0013c0115t0103g0157 a0013c0133t0104g0158 others(2): Show |
5 | 390 | 0.0128 | 21 | c.782 others(38): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 19/19 | chr20 | TogoVar | |||||||
HELZ2_chr20_63553086_63579239 | 63559540 | G | GAGTCAGG others(14): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0017 | a0017c0016 | a0017c0016t0009 | a0017c0016t0009g0182 | 1 | 390 | 0.0026 | 21 | c.782 others(38): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 19/19 | chr20 | TogoVar | |||||||
HELZ2_chr20_63553086_63579239 | 63559560 | G | GAGTCAGG others(14): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02809.hp1 HG02896.hp2 others(1): Show |
a0013a0063 | a0013c0113a0013c0115a0013c0133others(1): Show | a0013c0113t0078a0013c0115t0103a0013c0133t0104others(1): Show | a0013c0113t0078g0156 a0013c0115t0103g0157 a0013c0133t0104g0158 others(1): Show |
4 | 390 | 0.0103 | 21 | c.782 others(38): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 19/19 | chr20 | TogoVar | |||||||
HELZ_chr17_67065444_67250196 | 67086631 | A | AATATAAA others(14): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0261 | 1 | 274 | 0.0037 | 21 | c.549 others(38): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 32/32 | chr17 | TogoVar | |||||||
HELZ_chr17_67065444_67250196 | 67212314 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0011 | 1 | 274 | 0.0037 | 21 | c.247 others(38): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 5/32 | chr17 | TogoVar | |||||||
HEMGN_chr9_97921791_97943172 | 97923065 | C | CAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0083 | 1 | 314 | 0.0032 | 21 | c.*43 others(32): Show |
HEMGN | ENSG00000136929.13 | transcript | ENST00000616898.2 | protein_coding | 3725 | chr9 | TogoVar | |||||||
HEPHL1_chr11_94016354_94119208 | 94042875 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02965.hp1 HG03130.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0003 | a0001c0001t0001g0121 a0001c0001t0001g0125 a0004c0004t0003g0358 |
3 | 368 | 0.0082 | 21 | c.171 others(38): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HERC1_chr15_63603618_63838948 | 63720102 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0007 | a0007c0016 | a0007c0016t0001 | a0007c0016t0001g0171 | 1 | 216 | 0.0046 | 21 | c.374 others(40): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 19/77 | chr15 | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63720103 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00735.hp2 others(15): Show |
a0001a0008 | a0001c0001a0001c0006a0001c0013others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0001others(4): Show | a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0121 others(15): Show |
18 | 216 | 0.0833 | 21 | c.374 others(40): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 19/77 | chr15 | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63826806 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 216 | 0.0046 | 21 | c.-27 others(38): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | |||||||
HERC2_chr15_28106040_28327179 | 28279651 | A | ACACACAC others(14): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0004 | a0004c0012 | a0004c0012t0002 | a0004c0012t0002g0007 | 1 | 250 | 0.0040 | 21 | c.542 others(36): Show |
HERC2 | ENSG00000128731.18 | transcript | ENST00000261609.13 | protein_coding | 5/92 | chr15 | TogoVar | |||||||
HERC4_chr10_67916905_68080283 | 68010299 | T | TAGCCTGG others(14): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0306 | 1 | 360 | 0.0028 | 21 | c.106 others(40): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 9/24 | chr10 | TogoVar | |||||||
HERC4_chr10_67916905_68080283 | 68059618 | A | AATATATA others(14): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02630.hp1 |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0289 a0001c0002t0007g0291 |
2 | 360 | 0.0056 | 21 | c.226 others(40): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 3/24 | chr10 | TogoVar | |||||||
HERC6_chr4_88373852_88448097 | 88380113 | A | AATATATA others(14): Show |
intron_variant | MODIFIER | HG02965.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0096 a0001c0001t0003g0097 |
2 | 174 | 0.0115 | 21 | c.199 others(38): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HERC6_chr4_88373852_88448097 | 88380219 | A | AATATATA others(14): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02897.hp1 |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0006c0006t0001 | a0001c0001t0001g0004 a0006c0006t0001g0085 |
2 | 174 | 0.0115 | 21 | c.199 others(38): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HES1_chr3_194131148_194143732 | 194137960 | C | CCCCGGGG others(14): Show |
disruptive_inframe_insertion | MODERATE | HG03654.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0002 | 1 | 434 | 0.0023 | 21 | c.576 others(28): Show |
p.Gly others(34): Show |
HES1 | ENSG00000114315.4 | transcript | ENST00000232424.4 | protein_coding | 4/4 | 830/1575 | 597/843 | 199/280 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
HEXD_chr17_82413347_82447645 | 82433091 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0103 | 1 | 400 | 0.0025 | 21 | c.283 others(36): 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(14): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG02486.hp1 HG02572.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0002g0005 |
9 | 460 | 0.0196 | 21 | c.-17 others(32): Show |
HEY1 | ENSG00000164683.19 | transcript | ENST00000354724.8 | protein_coding | 1605 | chr8 | TogoVar | |||||||
HEY1_chr8_79759010_79772767 | 79771415 | G | GGAAAAGG others(14): Show |
upstream_gene_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 460 | 0.0022 | 21 | c.-37 others(32): Show |
HEY1 | ENSG00000164683.19 | transcript | ENST00000354724.8 | protein_coding | 3649 | chr8 | TogoVar | |||||||
HFM1_chr1_91255766_91409837 | 91264361 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03516.hp2 NA18942.hp2 others(4): Show |
a0001 | a0001c0001a0001c0016 | a0001c0001t0001a0001c0016t0001 | a0001c0001t0001g0205 a0001c0001t0001g0214 a0001c0001t0001g0225 others(4): Show |
7 | 362 | 0.0193 | 21 | c.397 others(40): Show |
HFM1 | ENSG00000162669.16 | transcript | ENST00000370425.8 | protein_coding | 36/38 | chr1 | TogoVar | |||||||
HFM1_chr1_91255766_91409837 | 91364632 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 | 1 | 362 | 0.0028 | 21 | c.168 others(42): Show |
HFM1 | ENSG00000162669.16 | transcript | ENST00000370425.8 | protein_coding | 13/38 | chr1 | TogoVar | |||||||
HGD_chr3_120623172_120687239 | 120630798 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 374 | 0.0027 | 21 | c.118 others(40): Show |
HGD | ENSG00000113924.12 | transcript | ENST00000283871.10 | protein_coding | 13/13 | chr3 | TogoVar | |||||||
HGSNAT_chr8_43135464_43207855 | 43195655 | T | TGGAGGAG others(14): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(153): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0013others(9): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(146): Show |
156 | 234 | 0.6667 | 21 | c.146 others(40): Show |
HGSNAT | ENSG00000165102.15 | transcript | ENST00000379644.9 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210326117 | G | GTTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0153 | 1 | 268 | 0.0037 | 21 | c.-30 others(32): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 2784 | chr1 | TogoVar | |||||||
HHAT_chr1_210323902_210681290 | 210334178 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00642.hp1 HG00733.hp1 others(4): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0008 | a0001c0001t0003a0002c0003t0001a0002c0003t0003others(2): Show | a0001c0001t0003g0254 a0002c0003t0001g0249 a0002c0003t0001g0255 others(4): Show |
7 | 268 | 0.0261 | 21 | c.-44 others(38): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210386230 | C | CTTTCTTT others(14): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01515.hp1 HG02135.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0002g0116 others(5): Show |
8 | 268 | 0.0299 | 21 | c.160 others(38): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |