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 | 72365143 | CATGCCTA | C | intron_variant | MODIFIER | HG02818.hp1 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 a0001c0001t0001g0200 |
2 | 208 | 0.0096 | -7 | c.100 others(28): Show |
HDAC8 | ENSG00000147099.21 | transcript | ENST00000373573.9 | protein_coding | 9/10 | chrX | TogoVar | |||||||
HDAC8_chrX_72324516_72577843 | 72413261 | TCCCCCCA | T | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG01169.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0024 a0001c0001t0001g0069 a0001c0001t0001g0090 others(23): Show |
26 | 208 | 0.1250 | -7 | c.100 others(28): Show |
HDAC8 | ENSG00000147099.21 | transcript | ENST00000373573.9 | protein_coding | 9/10 | chrX | TogoVar | |||||||
HDAC8_chrX_72324516_72577843 | 72556868 | AACAATGG | A | intron_variant | MODIFIER | HG02615.hp2 HG02622.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show |
4 | 208 | 0.0192 | -7 | c.437 others(26): Show |
HDAC8 | ENSG00000147099.21 | transcript | ENST00000373573.9 | protein_coding | 4/10 | chrX | TogoVar | |||||||
HDAC8_chrX_72324516_72577843 | 72566296 | TAAAAAAC | T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 a0001c0001t0001g0100 |
2 | 208 | 0.0096 | -7 | c.437 others(24): Show |
HDAC8 | ENSG00000147099.21 | transcript | ENST00000373573.9 | protein_coding | 4/10 | chrX | TogoVar | |||||||
HDAC9_chr7_18490749_19007416 | 18541502 | ATTTTATG | A | intron_variant | MODIFIER | HG01891.hp1 HG03041.hp2 HG03579.hp1 |
a0001 | a0001c0002a0001c0003a0001c0010 | a0001c0002t0042a0001c0003t0008a0001c0010t0008 | a0001c0002t0042g0019 a0001c0003t0008g0146 a0001c0010t0008g0147 |
3 | 156 | 0.0192 | -7 | c.23- others(24): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18784495 | CAAAACAA | C | intron_variant | MODIFIER | HG02055.hp2 HG02886.hp1 HG02897.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0019a0001c0001t0036a0001c0001t0037others(4): Show | a0001c0001t0019g0114 a0001c0001t0036g0136 a0001c0001t0037g0050 others(4): Show |
7 | 156 | 0.0449 | -7 | c.221 others(26): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18967858 | TAAAAAAC | T | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 NA18522.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0021a0001c0001t0034a0001c0002t0001others(1): Show | a0001c0001t0021g0013 a0001c0001t0034g0093 a0001c0002t0001g0044 others(1): Show |
4 | 156 | 0.0256 | -7 | c.302 others(26): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 24/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDHD3_chr9_113368422_113381986 | 113376047 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00642.hp2 others(58): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0013a0002c0002t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0044 others(5): Show |
61 | 464 | 0.1315 | -7 | c.-29 others(24): Show |
HDHD3 | ENSG00000119431.10 | transcript | ENST00000374180.4 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
HDHD5_chr22_17132520_17164277 | 17151727 | TAAAAAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(121): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0009a0001c0014others(10): Show | a0001c0001t0001a0001c0009t0001a0001c0014t0001others(10): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 others(90): Show |
124 | 422 | 0.2938 | -7 | c.127 others(24): Show |
HDHD5 | ENSG00000069998.12 | transcript | ENST00000336737.8 | protein_coding | 1/7 | chr22 | TogoVar | |||||||
HDLBP_chr2_241222291_241320672 | 241241566 | CAAAAAAA | C | intron_variant | MODIFIER | HG00609.hp2 HG00642.hp2 HG01255.hp2 others(20): Show |
a0001a0002a0003 | a0001c0001a0001c0012a0001c0014others(2): Show | a0001c0001t0005a0001c0001t0010a0001c0001t0015others(5): Show | a0001c0001t0005g0006 a0001c0001t0005g0008 a0001c0001t0005g0009 others(20): Show |
23 | 354 | 0.0650 | -7 | c.216 others(24): Show |
HDLBP | ENSG00000115677.18 | transcript | ENST00000310931.10 | protein_coding | 17/27 | chr2 | TogoVar | |||||||
HDLBP_chr2_241222291_241320672 | 241245187 | CTTTTTTT | C | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00597.hp2 others(41): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0004a0001c0001t0007a0001c0001t0032others(1): Show | a0001c0001t0004g0240 a0001c0001t0004g0250 a0001c0001t0004g0252 others(41): Show |
44 | 354 | 0.1243 | -7 | c.195 others(26): Show |
HDLBP | ENSG00000115677.18 | transcript | ENST00000310931.10 | protein_coding | 16/27 | chr2 | TogoVar | |||||||
HDLBP_chr2_241222291_241320672 | 241298076 | AAAAAAAG | A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00558.hp2 others(6): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0317 a0001c0001t0002g0334 a0001c0001t0005g0014 others(6): Show |
9 | 354 | 0.0254 | -7 | c.-10 others(28): Show |
HDLBP | ENSG00000115677.18 | transcript | ENST00000310931.10 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
HDX_chrX_84312878_84507453 | 84385196 | CTTTTTTT | C | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG01099.hp1 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0004 a0001c0001t0001g0072 a0001c0001t0001g0073 others(42): Show |
45 | 269 | 0.1673 | -7 | c.130 others(28): Show |
HDX | ENSG00000165259.14 | transcript | ENST00000373177.3 | protein_coding | 5/10 | chrX | TogoVar | |||||||
HDX_chrX_84312878_84507453 | 84408499 | GTTTTTTT | G | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 269 | 0.0037 | -7 | c.130 others(28): Show |
HDX | ENSG00000165259.14 | transcript | ENST00000373177.3 | protein_coding | 5/10 | chrX | TogoVar | |||||||
HEATR1_chr1_236544005_236609516 | 236562929 | AATATTAT | A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(111): Show |
a0001a0005a0013others(9): Show | a0001c0001a0001c0033a0001c0047others(11): Show | a0001c0001t0001a0001c0001t0012a0001c0033t0001others(12): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 others(89): Show |
114 | 388 | 0.2938 | -7 | c.459 others(26): Show |
HEATR1 | ENSG00000119285.11 | transcript | ENST00000366582.8 | protein_coding | 32/44 | chr1 | TogoVar | |||||||
HEATR1_chr1_236544005_236609516 | 236595070 | ACTTTTTG | A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(196): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0033a0001c0047others(29): Show | a0001c0001t0001a0001c0001t0012a0001c0033t0001others(31): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 others(156): Show |
199 | 388 | 0.5129 | -7 | c.109 others(24): Show |
HEATR1 | ENSG00000119285.11 | transcript | ENST00000366582.8 | protein_coding | 8/44 | chr1 | TogoVar | |||||||
HEATR1_chr1_236544005_236609516 | 236609195 | ATTTTTTT | A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(91): Show |
a0002a0006a0011others(12): Show | a0002c0002a0006c0005a0006c0039others(13): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0014others(15): Show | a0002c0002t0002g0010 a0002c0002t0002g0015 a0002c0002t0002g0029 others(67): Show |
94 | 388 | 0.2423 | -7 | c.-48 others(18): Show |
HEATR1 | ENSG00000119285.11 | transcript | ENST00000366582.8 | protein_coding | 4680 | chr1 | TogoVar | |||||||
HEATR3_chr16_50060970_50112272 | 50108803 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00639.hp1 others(53): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(13): Show | a0001c0001t0001g0186 a0001c0001t0003g0031 a0001c0001t0003g0213 others(49): Show |
56 | 314 | 0.1783 | -7 | c.*37 others(18): Show |
HEATR3 | ENSG00000155393.14 | transcript | ENST00000299192.8 | protein_coding | 1532 | chr16 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73477085 | TATATATA | T | downstream_gene_variant | MODIFIER | HG02293.hp2 HG02683.hp1 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0012 a0001c0001t0002g0346 a0001c0001t0004g0174 |
3 | 368 | 0.0082 | -7 | c.*15 others(18): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 1398 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73511553 | AAATAAAT | A | intron_variant | MODIFIER | HG00558.hp2 HG01069.hp2 HG01258.hp1 others(16): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0051 a0001c0001t0001g0084 a0001c0001t0001g0113 others(15): Show |
19 | 368 | 0.0516 | -7 | c.155 others(24): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 7/17 | chr14 | TogoVar | |||||||
HEATR5A_chr14_31286788_31425550 | 31353818 | GAGATGGA | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00639.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0022 others(32): Show |
35 | 354 | 0.0989 | -7 | c.241 others(26): Show |
HEATR5A | ENSG00000129493.15 | transcript | ENST00000543095.7 | protein_coding | 16/35 | chr14 | TogoVar | |||||||
HEATR6_chr17_60036008_60083921 | 60048976 | TATATATA | T | intron_variant | MODIFIER | HG01243.hp2 HG02723.hp1 NA18947.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0006a0001c0001t0011others(2): Show | a0001c0001t0002g0060 a0001c0001t0006g0181 a0001c0001t0011g0031 others(2): Show |
5 | 250 | 0.0200 | -7 | c.254 others(24): Show |
HEATR6 | ENSG00000068097.16 | transcript | ENST00000184956.11 | protein_coding | 16/19 | chr17 | TogoVar | |||||||
HEATR6_chr17_60036008_60083921 | 60076704 | TAAAAAAA | T | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG01358.hp1 others(16): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0007a0002c0002t0008a0002c0002t0010others(6): Show | a0002c0002t0007g0002 a0002c0002t0007g0019 a0002c0002t0007g0208 others(12): Show |
19 | 250 | 0.0760 | -7 | c.220 others(22): Show |
HEATR6 | ENSG00000068097.16 | transcript | ENST00000184956.11 | protein_coding | 1/19 | chr17 | TogoVar | |||||||
HECA_chr6_139130080_139185802 | 139143859 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00621.hp2 others(158): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0005a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(24): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 others(111): Show |
161 | 314 | 0.5127 | -7 | c.271 others(24): Show |
HECA | ENSG00000112406.5 | transcript | ENST00000367658.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HECA_chr6_139130080_139185802 | 139165805 | GTGGGACA | G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00621.hp2 others(176): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(27): Show | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(125): Show |
179 | 314 | 0.5701 | -7 | c.272 others(22): Show |
HECA | ENSG00000112406.5 | transcript | ENST00000367658.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HECTD4_chr12_112155195_112387431 | 112324100 | TTCCTCTC | T | intron_variant | MODIFIER | HG00597.hp2 HG02258.hp2 HG02451.hp2 others(14): Show |
a0001a0002a0011others(2): Show | a0001c0001a0001c0008a0002c0004others(3): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(6): Show | a0001c0001t0004g0061 a0001c0001t0004g0067 a0001c0001t0004g0068 others(14): Show |
17 | 270 | 0.0630 | -7 | c.178 others(24): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/75 | chr12 | TogoVar | |||||||
HECW1_chr7_43107647_43571001 | 43120119 | TGACCATA | T | intron_variant | MODIFIER | HG02965.hp1 HG03130.hp2 HG03139.hp1 |
a0001a0004 | a0001c0002a0004c0011 | a0001c0002t0005a0004c0011t0005 | a0001c0002t0005g0180 a0004c0011t0005g0181 a0004c0011t0005g0182 |
3 | 182 | 0.0165 | -7 | c.-32 others(24): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HECW1_chr7_43107647_43571001 | 43248687 | CTCCTCCT | C | intron_variant | MODIFIER | HG00558.hp2 HG01496.hp1 HG01496.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0004a0001c0001t0016a0001c0002t0004others(4): Show | a0001c0001t0004g0001 a0001c0001t0004g0047 a0001c0001t0004g0057 others(6): Show |
9 | 182 | 0.0495 | -7 | c.27+ others(22): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HECW1_chr7_43107647_43571001 | 43488376 | AAGGAAGG | A | intron_variant | MODIFIER | HG00621.hp2 HG01070.hp1 HG03139.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0003a0001c0004t0009 | a0001c0001t0002g0024 a0001c0004t0003g0065 a0001c0004t0009g0168 |
3 | 182 | 0.0165 | -7 | c.323 others(26): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HECW1_chr7_43107647_43571001 | 43488380 | AAGGAAGG | A | intron_variant | MODIFIER | HG01074.hp1 HG01192.hp1 HG01243.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0010a0002c0009 | a0001c0002t0001a0001c0002t0017a0001c0010t0002others(1): Show | a0001c0002t0001g0104 a0001c0002t0017g0058 a0001c0010t0002g0055 others(1): Show |
4 | 182 | 0.0220 | -7 | c.323 others(26): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HECW2_chr2_196189072_196598554 | 196238452 | TTTCTTTC | T | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02723.hp1 others(2): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0024 | a0001c0001t0004a0001c0002t0003a0001c0002t0005others(1): Show | a0001c0001t0004g0107 a0001c0001t0004g0110 a0001c0002t0003g0106 others(2): Show |
5 | 112 | 0.0446 | -7 | c.376 others(26): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 21/28 | chr2 | TogoVar | |||||||
HECW2_chr2_196189072_196598554 | 196460776 | ATTTTTTT | A | intron_variant | MODIFIER | HG02717.hp2 HG03098.hp1 HG03098.hp2 others(2): Show |
a0001 | a0001c0002a0001c0011a0001c0023others(1): Show | a0001c0002t0005a0001c0002t0011a0001c0011t0003others(2): Show | a0001c0002t0005g0091 a0001c0002t0011g0068 a0001c0011t0003g0001 others(2): Show |
5 | 112 | 0.0446 | -7 | c.-35 others(26): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
HECW2_chr2_196189072_196598554 | 196518654 | CAAAAAAA | C | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG01168.hp2 others(28): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0013 a0001c0001t0001g0072 a0001c0001t0001g0089 others(28): Show |
31 | 112 | 0.2768 | -7 | c.-36 others(26): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
HEG1_chr3_124960710_125060997 | 125008814 | AAAAACAC | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(262): Show |
a0001a0002a0003others(43): Show | a0001c0001a0001c0002a0001c0010others(78): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(182): Show | a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0004g0277 others(258): Show |
265 | 362 | 0.7320 | -7 | c.319 others(24): Show |
HEG1 | ENSG00000173706.15 | transcript | ENST00000311127.9 | protein_coding | 8/16 | chr3 | TogoVar | |||||||
HEG1_chr3_124960710_125060997 | 125022693 | AAAGAAAT | A | intron_variant | MODIFIER | HG00323.hp1 HG00735.hp1 HG02165.hp1 others(13): Show |
a0001a0005a0008others(1): Show | a0001c0001a0001c0002a0001c0010others(3): Show | a0001c0001t0004a0001c0001t0042a0001c0001t0077others(7): Show | a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0004g0277 others(13): Show |
16 | 362 | 0.0442 | -7 | c.914 others(24): Show |
HEG1 | ENSG00000173706.15 | transcript | ENST00000311127.9 | protein_coding | 3/16 | chr3 | TogoVar | |||||||
HELLS_chr10_94540788_94607099 | 94575766 | TGTGTTTG | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(56): Show |
a0001a0007 | a0001c0001a0001c0016a0007c0006 | a0001c0001t0001a0001c0001t0002a0001c0016t0002others(1): Show | a0001c0001t0001g0098 a0001c0001t0001g0183 a0001c0001t0002g0005 others(52): Show |
59 | 358 | 0.1648 | -7 | c.889 others(22): Show |
HELLS | ENSG00000119969.16 | transcript | ENST00000348459.10 | protein_coding | 9/21 | chr10 | TogoVar | |||||||
HELLS_chr10_94540788_94607099 | 94580149 | ATATATAT | A | intron_variant | MODIFIER | HG00140.hp2 HG01069.hp2 HG01071.hp2 others(14): Show |
a0001 | a0001c0002a0001c0009a0001c0011 | a0001c0002t0001a0001c0009t0001a0001c0011t0001 | a0001c0002t0001g0011 a0001c0002t0001g0217 a0001c0002t0001g0219 others(13): Show |
17 | 358 | 0.0475 | -7 | c.103 others(26): Show |
HELLS | ENSG00000119969.16 | transcript | ENST00000348459.10 | protein_coding | 10/21 | chr10 | TogoVar | |||||||
HEMGN_chr9_97921791_97943172 | 97923065 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00733.hp2 HG01168.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0071 others(1): Show |
7 | 314 | 0.0223 | -7 | c.*43 others(18): Show |
HEMGN | ENSG00000136929.13 | transcript | ENST00000616898.2 | protein_coding | 3725 | chr9 | TogoVar | |||||||
HEPHL1_chr11_94016354_94119208 | 94086078 | CATGGAAT | C | frameshift_variant | HIGH | NA18955.hp1 | a0022 | a0022c0031 | a0022c0031t0002 | a0022c0031t0002g0278 | 1 | 368 | 0.0027 | -7 | c.197 others(16): Show |
p.His others(5): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 11/20 | 1985/5809 | 1970/3480 | 657/1159 | chr11 | TogoVar | |||
HERC1_chr15_63603618_63838948 | 63768024 | TATTCTTA | T | intron_variant | MODIFIER | HG02258.hp1 HG02559.hp2 HG02630.hp2 others(8): Show |
a0004 | a0004c0007a0004c0014 | a0004c0007t0001a0004c0014t0001 | a0004c0007t0001g0007 a0004c0007t0001g0008 a0004c0007t0001g0009 others(8): Show |
11 | 216 | 0.0509 | -7 | c.931 others(24): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 2/77 | chr15 | TogoVar | |||||||
HERC2_chr15_28106040_28327179 | 28316222 | CAAAAAAA | C | intron_variant | MODIFIER | HG02257.hp2 HG02622.hp2 HG02630.hp2 others(6): Show |
a0001a0003a0015others(1): Show | a0001c0001a0003c0004a0015c0066others(1): Show | a0001c0001t0001a0003c0004t0002a0015c0066t0002others(1): Show | a0001c0001t0001g0107 a0003c0004t0002g0009 a0003c0004t0002g0010 others(6): Show |
9 | 250 | 0.0360 | -7 | c.72+ others(22): Show |
HERC2 | ENSG00000128731.18 | transcript | ENST00000261609.13 | protein_coding | 2/92 | chr15 | TogoVar | |||||||
HERC2_chr15_28106040_28327179 | 28326864 | GTCTCTAC | G | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(227): Show |
a0001a0002a0003others(34): Show | a0001c0001a0001c0003a0001c0005others(67): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(72): Show | a0001c0001t0001g0036 a0001c0001t0001g0098 a0001c0001t0001g0099 others(227): Show |
230 | 250 | 0.9200 | -7 | c.-48 others(18): Show |
HERC2 | ENSG00000128731.18 | transcript | ENST00000261609.13 | protein_coding | 4686 | chr15 | TogoVar | |||||||
HERC4_chr10_67916905_68080283 | 68059714 | AATATTAT | A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(65): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0003t0004 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(65): Show |
68 | 360 | 0.1889 | -7 | c.226 others(26): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 3/24 | chr10 | TogoVar | |||||||
HERC4_chr10_67916905_68080283 | 68059726 | TATATATC | T | intron_variant | MODIFIER | HG02145.hp2 NA19068.hp2 NA19240.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0002t0007 | a0001c0001t0001g0081 a0001c0001t0006g0062 a0001c0002t0007g0292 |
3 | 360 | 0.0083 | -7 | c.226 others(26): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 3/24 | chr10 | TogoVar | |||||||
HERPUD2_chr7_35627659_35700135 | 35631651 | AATAAATT | A | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG01255.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0002 | a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 others(11): Show |
14 | 392 | 0.0357 | -7 | c.*20 others(18): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 1007 | chr7 | TogoVar | |||||||
HES2_chr1_6410232_6424919 | 6412417 | ATTTTTTT | A | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00738.hp1 HG01070.hp2 others(122): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(16): Show | a0001c0001t0003g0003 a0001c0001t0003g0009 a0001c0001t0005g0005 others(17): Show |
125 | 362 | 0.3453 | -7 | c.*64 others(18): Show |
HES2 | ENSG00000069812.11 | transcript | ENST00000377834.8 | protein_coding | 2814 | chr1 | TogoVar | |||||||
HEXD_chr17_82413347_82447645 | 82433128 | ATTTTTTT | A | intron_variant | MODIFIER | HG01167.hp1 HG01516.hp1 HG02040.hp1 others(9): Show |
a0001a0002a0006 | a0001c0001a0002c0004a0006c0020 | a0001c0001t0001a0002c0004t0001a0006c0020t0001 | a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0068 others(9): Show |
12 | 400 | 0.0300 | -7 | c.283 others(22): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HEXD_chr17_82413347_82447645 | 82447352 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG00639.hp2 others(77): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(3): Show | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 others(52): Show |
80 | 400 | 0.2000 | -7 | c.*49 others(18): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4708 | chr17 | TogoVar | |||||||
HEY1_chr8_79759010_79772767 | 79766258 | AGGCATGT | A | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG01070.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0024 a0001c0001t0002g0005 a0001c0001t0002g0022 others(1): Show |
32 | 460 | 0.0696 | -7 | c.331 others(22): Show |
HEY1 | ENSG00000164683.19 | transcript | ENST00000354724.8 | protein_coding | 4/4 | chr8 | TogoVar | |||||||
HGF_chr7_81694010_81775047 | 81708524 | CTTTTTTT | C | intron_variant | MODIFIER | HG01243.hp2 HG02280.hp2 HG02630.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0007a0001c0002t0015 | a0001c0001t0007g0106 a0001c0002t0007g0093 a0001c0002t0007g0095 others(3): Show |
6 | 272 | 0.0221 | -7 | c.154 others(26): Show |
HGF | ENSG00000019991.18 | transcript | ENST00000222390.11 | protein_coding | 13/17 | chr7 | TogoVar |