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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HCK_chr20_32047242_32106856 | 32054475 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG02818.hp2 HG02896.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0023 a0001c0001t0001g0130 a0001c0001t0001g0131 others(4): Show |
7 | 290 | 0.0241 | -15 | c.62+ others(30): Show |
HCK | ENSG00000101336.18 | transcript | ENST00000375852.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
HCK_chr20_32047242_32106856 | 32060897 | GGAAGAAA others(8): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(121): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(121): Show |
124 | 290 | 0.4276 | -15 | c.62+ others(30): Show |
HCK | ENSG00000101336.18 | transcript | ENST00000375852.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
HCLS1_chr3_121626399_121665903 | 121646371 | TTATTACT others(8): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG01074.hp2 others(23): Show |
a0002a0009a0010 | a0002c0002a0009c0023a0010c0020 | a0002c0002t0001a0009c0023t0001a0010c0020t0001 | a0002c0002t0001g0004 a0002c0002t0001g0014 a0002c0002t0001g0041 others(15): Show |
26 | 390 | 0.0667 | -15 | c.288 others(30): Show |
HCLS1 | ENSG00000180353.11 | transcript | ENST00000314583.8 | protein_coding | 4/13 | chr3 | TogoVar | |||||||
HCN1_chr5_45249948_45701380 | 45401871 | TTTTAATT others(8): Show |
T | intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 226 | 0.0044 | -15 | c.101 others(34): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 3/7 | chr5 | TogoVar | |||||||
HCN1_chr5_45249948_45701380 | 45534404 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0031a0001c0001t0032a0001c0001t0033 | a0001c0001t0031g0009 a0001c0001t0032g0010 a0001c0001t0033g0213 |
3 | 226 | 0.0133 | -15 | c.850 others(34): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 2/7 | chr5 | TogoVar | |||||||
HCN1_chr5_45249948_45701380 | 45537523 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0092 | 1 | 226 | 0.0044 | -15 | c.850 others(34): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 2/7 | chr5 | TogoVar | |||||||
HCN2_chr19_584881_622159 | 596891 | AGGAGAGG others(8): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00639.hp1 others(27): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0009others(16): Show | a0001c0001t0028a0001c0003t0004a0001c0009t0001others(17): Show | a0001c0001t0028g0390 a0001c0003t0004g0012 a0001c0009t0001g0005 others(25): Show |
30 | 408 | 0.0735 | -15 | c.632 others(32): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 599414 | CAGCATCT others(8): Show |
C | intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 408 | 0.0025 | -15 | c.633 others(32): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HCN3_chr1_155272463_155294848 | 155290989 | AAATAATA others(8): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(98): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0015a0002c0005others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(39): Show |
101 | 339 | 0.2979 | -15 | c.*25 others(26): Show |
HCN3 | ENSG00000143630.10 | transcript | ENST00000368358.4 | protein_coding | 1142 | chr1 | TogoVar | |||||||
HCRTR2_chr6_55169515_55287617 | 55187411 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01358.hp2 HG02809.hp1 HG02965.hp1 others(1): Show |
a0001a0003 | a0001c0004a0003c0005 | a0001c0004t0001a0003c0005t0001 | a0001c0004t0001g0334 a0001c0004t0001g0335 a0003c0005t0001g0336 others(1): Show |
4 | 368 | 0.0109 | -15 | c.223 others(34): Show |
HCRTR2 | ENSG00000137252.10 | transcript | ENST00000370862.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HCRT_chr17_42179060_42190452 | 42187582 | CTTTTTTT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG01243.hp1 HG01952.hp1 HG02602.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0003 others(1): Show |
11 | 378 | 0.0291 | -15 | c.-22 others(26): Show |
HCRT | ENSG00000161610.1 | transcript | ENST00000293330.1 | protein_coding | 2131 | chr17 | TogoVar | |||||||
HDAC2_chr6_113928028_113976148 | 113948381 | GAAGGTGA others(8): Show |
G | intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0063 | 1 | 402 | 0.0025 | -15 | c.841 others(30): Show |
HDAC2 | ENSG00000196591.12 | transcript | ENST00000519065.6 | protein_coding | 8/13 | chr6 | TogoVar | |||||||
HDAC2_chr6_113928028_113976148 | 113975111 | TACTACAC others(8): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(119): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0014 others(74): Show |
122 | 402 | 0.3035 | -15 | c.-42 others(26): Show |
HDAC2 | ENSG00000196591.12 | transcript | ENST00000519065.6 | protein_coding | 3964 | chr6 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239357888 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01255.hp1 HG01257.hp1 others(11): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0014a0001c0001t0056others(9): Show | a0001c0001t0001g0138 a0001c0001t0001g0151 a0001c0001t0014g0139 others(11): Show |
14 | 242 | 0.0579 | -15 | c.-21 others(34): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 1/26 | chr2 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239374386 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00735.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0028 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0150 a0001c0001t0002g0160 a0001c0001t0005g0161 others(7): Show |
10 | 242 | 0.0413 | -15 | c.-21 others(36): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 1/26 | chr2 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239391903 | AGAACGCA others(8): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(127): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0025 a0001c0001t0001g0103 a0001c0001t0001g0104 others(127): Show |
130 | 242 | 0.5372 | -15 | c.-22 others(34): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 1/26 | chr2 | TogoVar | |||||||
HDAC9_chr7_18490749_19007416 | 18810430 | ATTCAAGG others(8): Show |
A | intron_variant | MODIFIER | HG01169.hp2 HG01891.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0004a0001c0005t0005 | a0001c0002t0004g0102 a0001c0005t0005g0106 |
2 | 156 | 0.0128 | -15 | 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 | 18946036 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 156 | 0.0064 | -15 | c.293 others(34): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18980658 | TTTCTTGT others(8): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00741.hp1 HG01109.hp2 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0074 a0001c0001t0002g0036 a0001c0001t0002g0085 others(41): Show |
44 | 156 | 0.2821 | -15 | c.317 others(34): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 25/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDC_chr15_50236947_50270726 | 50240886 | CAAAAAAA others(8): Show |
C | downstream_gene_variant | MODIFIER | HG00597.hp2 HG01169.hp1 HG01169.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0090 others(1): Show |
4 | 418 | 0.0096 | -15 | c.*13 others(26): Show |
HDC | ENSG00000140287.11 | transcript | ENST00000267845.8 | protein_coding | 1060 | chr15 | TogoVar | |||||||
HDDC2_chr6_125270350_125306967 | 125289500 | AAAAACAA others(8): Show |
A | intron_variant | MODIFIER | HG03225.hp2 HG03453.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0032 | 3 | 374 | 0.0080 | -15 | c.378 others(32): Show |
HDDC2 | ENSG00000111906.18 | transcript | ENST00000398153.7 | protein_coding | 4/5 | chr6 | TogoVar | |||||||
HDDC3_chr15_90924968_90937549 | 90937469 | TAAATACA others(8): Show |
T | upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 400 | 0.0025 | -15 | c.-49 others(26): Show |
HDDC3 | ENSG00000184508.12 | transcript | ENST00000394272.8 | protein_coding | 4921 | chr15 | TogoVar | |||||||
HDGFL3_chr15_83122753_83212823 | 83145897 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG01361.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011a0001c0001t0051others(1): Show | a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0004g0088 others(9): Show |
12 | 246 | 0.0488 | -15 | c.606 others(32): Show |
HDGFL3 | ENSG00000166503.9 | transcript | ENST00000299633.7 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
HDGFL3_chr15_83122753_83212823 | 83169414 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01255.hp1 HG02055.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0013a0001c0001t0021others(3): Show | a0001c0001t0008g0014 a0001c0001t0008g0015 a0001c0001t0008g0016 others(9): Show |
12 | 246 | 0.0488 | -15 | c.85- others(30): Show |
HDGFL3 | ENSG00000166503.9 | transcript | ENST00000299633.7 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HDHD2_chr18_47102410_47155500 | 47118806 | CAGATGAG others(8): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02257.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0038 a0001c0001t0007g0199 |
3 | 366 | 0.0082 | -15 | c.396 others(32): Show |
HDHD2 | ENSG00000167220.12 | transcript | ENST00000300605.11 | protein_coding | 4/6 | chr18 | TogoVar | |||||||
HDLBP_chr2_241222291_241320672 | 241241566 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02155.hp1 NA18950.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0031 | a0001c0001t0002g0339 a0001c0001t0031g0092 |
2 | 354 | 0.0057 | -15 | c.216 others(32): Show |
HDLBP | ENSG00000115677.18 | transcript | ENST00000310931.10 | protein_coding | 17/27 | chr2 | TogoVar | |||||||
HDLBP_chr2_241222291_241320672 | 241258346 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA18995.hp1 NA19087.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140 a0001c0001t0002g0157 |
2 | 354 | 0.0057 | -15 | c.451 others(32): Show |
HDLBP | ENSG00000115677.18 | transcript | ENST00000310931.10 | protein_coding | 5/27 | chr2 | TogoVar | |||||||
HDLBP_chr2_241222291_241320672 | 241298045 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02735.hp1 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 a0001c0001t0001g0107 |
2 | 354 | 0.0057 | -15 | c.-10 others(36): Show |
HDLBP | ENSG00000115677.18 | transcript | ENST00000310931.10 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
HDLBP_chr2_241222291_241320672 | 241300950 | CTATTATT others(8): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG02572.hp1 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0015 | a0001c0001t0005g0004 a0001c0001t0015g0189 a0001c0001t0015g0194 |
3 | 354 | 0.0085 | -15 | c.-10 others(36): Show |
HDLBP | ENSG00000115677.18 | transcript | ENST00000310931.10 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
HDX_chrX_84312878_84507453 | 84349528 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 269 | 0.0037 | -15 | c.145 others(34): Show |
HDX | ENSG00000165259.14 | transcript | ENST00000373177.3 | protein_coding | 6/10 | chrX | TogoVar | |||||||
HDX_chrX_84312878_84507453 | 84385196 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 269 | 0.0037 | -15 | c.130 others(36): Show |
HDX | ENSG00000165259.14 | transcript | ENST00000373177.3 | protein_coding | 5/10 | chrX | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73477075 | TATATATA others(8): Show |
T | downstream_gene_variant | MODIFIER | HG04184.hp1 HG04184.hp2 NA18997.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0004 | a0001c0002t0002g0275 a0001c0002t0002g0310 a0001c0003t0004g0179 |
3 | 368 | 0.0082 | -15 | c.*15 others(26): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 1408 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73477077 | TATATATA others(8): Show |
T | downstream_gene_variant | MODIFIER | HG03139.hp2 HG03516.hp2 NA18985.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0006a0001c0002t0001 | a0001c0001t0005g0016 a0001c0001t0006g0141 a0001c0002t0001g0101 |
3 | 368 | 0.0082 | -15 | c.*15 others(26): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 1406 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73477079 | TATATATA others(8): Show |
T | downstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0189 | 1 | 368 | 0.0027 | -15 | c.*15 others(26): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 1404 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73477088 | ATATATAT others(8): Show |
A | downstream_gene_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0187 | 1 | 368 | 0.0027 | -15 | c.*15 others(26): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 1395 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73477090 | ATATATTT others(8): Show |
A | downstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0248 | 1 | 368 | 0.0027 | -15 | c.*15 others(26): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 1393 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73505380 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02572.hp2 HG02647.hp1 others(5): Show |
a0003a0009a0014 | a0003c0007a0009c0015a0014c0020 | a0003c0007t0003a0009c0015t0001a0009c0015t0009others(1): Show | a0003c0007t0003g0149 a0003c0007t0003g0152 a0003c0007t0003g0153 others(5): Show |
8 | 368 | 0.0217 | -15 | c.198 others(34): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 10/17 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73513728 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0257 | 1 | 368 | 0.0027 | -15 | c.141 others(32): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73535469 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02922.hp2 HG03041.hp2 HG03130.hp2 others(1): Show |
a0007a0017 | a0007c0010a0017c0019 | a0007c0010t0003a0017c0019t0004 | a0007c0010t0003g0252 a0007c0010t0003g0253 a0007c0010t0003g0254 others(1): Show |
4 | 368 | 0.0109 | -15 | c.-15 others(34): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 1/17 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73542390 | ATGTTTTT others(8): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0258 | 1 | 368 | 0.0027 | -15 | c.-15 others(36): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 1/17 | chr14 | TogoVar | |||||||
HEATR5A_chr14_31286788_31425550 | 31302938 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG01891.hp1 HG01993.hp2 others(10): Show |
a0006a0010a0013others(1): Show | a0006c0006a0010c0010a0013c0012others(1): Show | a0006c0006t0018a0010c0010t0007a0010c0010t0010others(4): Show | a0006c0006t0018g0342 a0006c0006t0018g0345 a0010c0010t0007g0347 others(10): Show |
13 | 354 | 0.0367 | -15 | c.524 others(32): Show |
HEATR5A | ENSG00000129493.15 | transcript | ENST00000543095.7 | protein_coding | 32/35 | chr14 | TogoVar | |||||||
HEATR5A_chr14_31286788_31425550 | 31368713 | ATTTATTT others(8): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(124): Show |
a0001a0005a0007others(5): Show | a0001c0001a0001c0015a0001c0032others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(13): Show | a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0022 others(124): Show |
127 | 354 | 0.3588 | -15 | c.196 others(34): Show |
HEATR5A | ENSG00000129493.15 | transcript | ENST00000543095.7 | protein_coding | 13/35 | chr14 | TogoVar | |||||||
HEATR6_chr17_60036008_60083921 | 60048972 | CATATATA others(8): Show |
C | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062 | 1 | 250 | 0.0040 | -15 | c.254 others(32): Show |
HEATR6 | ENSG00000068097.16 | transcript | ENST00000184956.11 | protein_coding | 16/19 | chr17 | TogoVar | |||||||
HECA_chr6_139130080_139185802 | 139144147 | TTCATTCA others(8): Show |
T | intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0095 | 1 | 314 | 0.0032 | -15 | c.271 others(32): Show |
HECA | ENSG00000112406.5 | transcript | ENST00000367658.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HECTD4_chr12_112155195_112387431 | 112219328 | CTTACTCA others(8): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02559.hp2 HG02630.hp1 others(3): Show |
a0001 | a0001c0001a0001c0039 | a0001c0001t0001a0001c0001t0011a0001c0039t0011 | a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 others(3): Show |
6 | 270 | 0.0222 | -15 | c.707 others(30): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 45/75 | chr12 | TogoVar | |||||||
HECTD4_chr12_112155195_112387431 | 112296577 | ATGTAGGT others(8): Show |
A | intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0111 | 1 | 270 | 0.0037 | -15 | c.133 others(34): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 7/75 | chr12 | TogoVar | |||||||
HECTD4_chr12_112155195_112387431 | 112296758 | ATGTAGGT others(8): Show |
A | intron_variant | MODIFIER | HG01891.hp1 NA19081.hp1 NA19087.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0001t0014a0001c0002t0001others(1): Show | a0001c0001t0004g0078 a0001c0001t0014g0148 a0001c0002t0001g0237 others(1): Show |
4 | 270 | 0.0148 | -15 | c.133 others(34): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 7/75 | chr12 | TogoVar | |||||||
HECW1_chr7_43107647_43571001 | 43221537 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00558.hp2 others(22): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0003a0001c0001t0004a0001c0002t0001others(15): Show | a0001c0001t0003g0162 a0001c0001t0004g0001 a0001c0001t0004g0017 others(22): Show |
25 | 182 | 0.1374 | -15 | c.-31 others(34): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HECW1_chr7_43107647_43571001 | 43336089 | CTCTTTCT others(8): Show |
C | intron_variant | MODIFIER | HG02109.hp1 | a0003 | a0003c0008 | a0003c0008t0010 | a0003c0008t0010g0003 | 1 | 182 | 0.0055 | -15 | c.460 others(34): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HECW1_chr7_43107647_43571001 | 43336143 | TTTCTCTC others(8): Show |
T | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0140 | 1 | 182 | 0.0055 | -15 | c.460 others(34): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |