| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HEATR4_chr14_73473484_73563947 | 73477094 | A | ATATATAT others(6): Show |
downstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0009 | 1 | 368 | 0.0027 | 13 | c.*15 others(24): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 1389 | chr14 | TogoVar | ||||||
| HEATR4_chr14_73473484_73563947 | 73477094 | A | ATATATTT others(6): Show |
downstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0265 | 1 | 368 | 0.0027 | 13 | c.*15 others(24): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 1389 | chr14 | TogoVar | ||||||
| HEATR4_chr14_73473484_73563947 | 73501985 | T | TCCACCCG others(6): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02970.hp2 HG03579.hp1 |
a0001a0010 | a0001c0001a0001c0006a0010c0016 | a0001c0001t0004a0001c0006t0003a0010c0016t0004 | a0001c0001t0004g0250a0001c0006t0003g0150a0010c0016t0004g0146 | 3 | 368 | 0.0082 | 13 | c.210 others(30): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 11/17 | chr14 | TogoVar | ||||||
| HEATR4_chr14_73473484_73563947 | 73506804 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0187 | 1 | 368 | 0.0027 | 13 | c.188 others(30): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 9/17 | chr14 | TogoVar | ||||||
| HEATR4_chr14_73473484_73563947 | 73511560 | T | TAAATAAA others(6): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0017 | a0001c0017t0003 | a0001c0017t0003g0339 | 1 | 368 | 0.0027 | 13 | c.155 others(30): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 7/17 | chr14 | TogoVar | ||||||
| HEATR4_chr14_73473484_73563947 | 73524306 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0246 | 1 | 368 | 0.0027 | 13 | c.-72 others(30): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 2/17 | chr14 | TogoVar | ||||||
| HEATR4_chr14_73473484_73563947 | 73524310 | A | AAAAATAT others(6): Show |
intron_variant | MODIFIER | HG03195.hp2 NA18941.hp1 |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0001a0005c0010t0003 | a0001c0001t0001g0062a0005c0010t0003g0252 | 2 | 368 | 0.0054 | 13 | c.-72 others(30): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 2/17 | chr14 | TogoVar | ||||||
| HEATR4_chr14_73473484_73563947 | 73524310 | A | AAATATAT others(6): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 368 | 0.0027 | 13 | c.-72 others(30): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 2/17 | chr14 | TogoVar | ||||||
| HEATR5A_chr14_31286788_31425550 | 31306231 | A | ACTCTGGG others(6): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02886.hp1 NA19240.hp1 |
a0013 | a0013c0017 | a0013c0017t0001a0013c0017t0017 | a0013c0017t0001g0023a0013c0017t0017g0208a0013c0017t0017g0329 | 3 | 354 | 0.0085 | 13 | c.496 others(30): Show |
HEATR5A | ENSG00000129493.15 | transcript | ENST00000543095.7 | protein_coding | 31/35 | chr14 | TogoVar | ||||||
| HEATR5B_chr2_36975895_37089372 | 36984200 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01099.hp2 HG01106.hp1 others(10): Show |
a0001a0008 | a0001c0001a0001c0004a0001c0014others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0014t0001others(1): Show | a0001c0001t0001g0055a0001c0001t0001g0193a0001c0001t0001g0194others(10): Show | 13 | 314 | 0.0414 | 13 | c.591 others(32): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 35/35 | chr2 | TogoVar | ||||||
| HEATR5B_chr2_36975895_37089372 | 36984215 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02897.hp2 |
a0001 | a0001c0006a0001c0008 | a0001c0006t0007a0001c0008t0001 | a0001c0006t0007g0042a0001c0008t0001g0282 | 2 | 314 | 0.0064 | 13 | c.591 others(32): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 35/35 | chr2 | TogoVar | ||||||
| HEATR5B_chr2_36975895_37089372 | 36984215 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01884.hp1 NA19043.hp1 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0039a0001c0006t0001g0047 | 2 | 314 | 0.0064 | 13 | c.591 others(32): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 35/35 | chr2 | TogoVar | ||||||
| HEATR5B_chr2_36975895_37089372 | 36995087 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03486.hp1 HG03486.hp2 others(3): Show |
a0002 | a0002c0003a0002c0017a0002c0021 | a0002c0003t0001a0002c0003t0003a0002c0017t0001others(1): Show | a0002c0003t0001g0077a0002c0003t0003g0007a0002c0003t0003g0009others(3): Show | 6 | 314 | 0.0191 | 13 | c.554 others(32): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 33/35 | chr2 | TogoVar | ||||||
| HEATR5B_chr2_36975895_37089372 | 37082086 | T | TTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02015.hp2 HG02155.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0001a0001c0005t0001 | a0001c0001t0001g0224a0001c0002t0001g0222a0001c0002t0001g0223others(3): Show | 6 | 314 | 0.0191 | 13 | c.126 others(30): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 2/35 | chr2 | TogoVar | ||||||
| HEBP2_chr6_138399223_138427197 | 138423815 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02257.hp1 HG02622.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0047a0001c0002t0083a0001c0003t0027others(1): Show | a0001c0002t0047g0018a0001c0002t0083g0007a0001c0003t0027g0019others(1): Show | 4 | 316 | 0.0127 | 13 | c.*10 others(26): Show |
HEBP2 | ENSG00000051620.11 | transcript | ENST00000607197.6 | protein_coding | 1619 | chr6 | TogoVar | ||||||
| HECTD1_chr14_31095117_31212793 | 31096689 | A | ATATATAT others(6): Show |
downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0339 | 1 | 342 | 0.0029 | 13 | c.*42 others(24): Show |
HECTD1 | ENSG00000092148.14 | transcript | ENST00000399332.6 | protein_coding | 3427 | chr14 | TogoVar | ||||||
| HECTD1_chr14_31095117_31212793 | 31134042 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02074.hp1 NA18971.hp1 NA18992.hp1 others(1): Show |
a0001 | a0001c0010a0001c0018 | a0001c0010t0004a0001c0018t0004 | a0001c0010t0004g0012a0001c0010t0004g0013a0001c0010t0004g0015others(1): Show | 4 | 342 | 0.0117 | 13 | c.357 others(30): Show |
HECTD1 | ENSG00000092148.14 | transcript | ENST00000399332.6 | protein_coding | 22/42 | chr14 | TogoVar | ||||||
| HECTD4_chr12_112155195_112387431 | 112155302 | A | ATTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG04204.hp1 NA19070.hp1 |
a0001a0010 | a0001c0002a0010c0014 | a0001c0002t0001a0010c0014t0001 | a0001c0002t0001g0175a0010c0014t0001g0195 | 2 | 270 | 0.0074 | 13 | c.*70 others(24): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 4892 | chr12 | TogoVar | ||||||
| HECTD4_chr12_112155195_112387431 | 112189550 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0009 | a0001c0009t0016 | a0001c0009t0016g0266 | 1 | 270 | 0.0037 | 13 | c.947 others(32): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 60/75 | chr12 | TogoVar | ||||||
| HECTD4_chr12_112155195_112387431 | 112262515 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0068 | 1 | 270 | 0.0037 | 13 | c.274 others(32): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 17/75 | chr12 | TogoVar | ||||||
| HECTD4_chr12_112155195_112387431 | 112290848 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02132.hp1 HG02257.hp2 others(20): Show |
a0001a0002a0003others(2): Show | a0001c0002a0002c0005a0003c0008others(2): Show | a0001c0002t0001a0002c0005t0001a0003c0008t0001others(2): Show | a0001c0002t0001g0171a0001c0002t0001g0175a0001c0002t0001g0177others(20): Show | 23 | 270 | 0.0852 | 13 | c.133 others(32): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 7/75 | chr12 | TogoVar | ||||||
| HECW1_chr7_43107647_43571001 | 43319393 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00621.hp1 others(30): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0064a0001c0001t0001g0116a0001c0001t0001g0131others(30): Show | 33 | 182 | 0.1813 | 13 | c.353 others(30): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| HECW1_chr7_43107647_43571001 | 43374799 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA20129.hp1 NA20805.hp1 |
a0001a0002 | a0001c0021a0002c0009 | a0001c0021t0029a0002c0009t0001 | a0001c0021t0029g0093a0002c0009t0001g0095 | 2 | 182 | 0.0110 | 13 | c.555 others(32): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| HECW2_chr2_196189072_196598554 | 196273049 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0006 | a0001c0006t0011 | a0001c0006t0011g0098 | 1 | 112 | 0.0089 | 13 | c.323 others(30): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 16/28 | chr2 | TogoVar | ||||||
| HECW2_chr2_196189072_196598554 | 196278133 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02683.hp2 |
a0001 | a0001c0009 | a0001c0009t0006a0001c0009t0020 | a0001c0009t0006g0048a0001c0009t0020g0087 | 2 | 112 | 0.0179 | 13 | c.313 others(30): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 15/28 | chr2 | TogoVar | ||||||
| HECW2_chr2_196189072_196598554 | 196458884 | A | ACAACAAA others(6): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03209.hp1 HG03540.hp2 |
a0001 | a0001c0002a0001c0023 | a0001c0002t0005a0001c0002t0011a0001c0023t0004 | a0001c0002t0005g0091a0001c0002t0011g0068a0001c0023t0004g0016 | 3 | 112 | 0.0268 | 13 | c.-35 others(32): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
| HEG1_chr3_124960710_125060997 | 125036209 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01891.hp1 HG02486.hp1 others(6): Show |
a0002a0004a0008others(4): Show | a0002c0049a0004c0005a0004c0081others(5): Show | a0002c0049t0087a0004c0005t0004a0004c0005t0027others(6): Show | a0002c0049t0087g0028a0004c0005t0004g0278a0004c0005t0027g0260others(6): Show | 9 | 362 | 0.0249 | 13 | c.317 others(30): Show |
HEG1 | ENSG00000173706.15 | transcript | ENST00000311127.9 | protein_coding | 1/16 | chr3 | TogoVar | ||||||
| HELT_chr4_185013490_185025953 | 185023078 | T | TCTCTCTC others(6): Show |
downstream_gene_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 454 | 0.0022 | 13 | c.*23 others(24): Show |
HELT | ENSG00000187821.9 | transcript | ENST00000515777.6 | protein_coding | 2126 | chr4 | TogoVar | ||||||
| HELT_chr4_185013490_185025953 | 185023078 | T | TCTCTCTC others(6): Show |
downstream_gene_variant | MODIFIER | HG01943.hp1 HG01993.hp1 HG03139.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0002a0001c0001t0004g0002 | 7 | 454 | 0.0154 | 13 | c.*23 others(24): Show |
HELT | ENSG00000187821.9 | transcript | ENST00000515777.6 | protein_coding | 2126 | chr4 | TogoVar | ||||||
| HELZ_chr17_67065444_67250196 | 67094333 | A | AAAGAGAG others(6): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02451.hp2 HG02922.hp2 others(2): Show |
a0001a0011 | a0001c0001a0001c0006a0011c0016 | a0001c0001t0021a0001c0006t0022a0011c0016t0013 | a0001c0001t0021g0092a0001c0001t0021g0093a0001c0006t0022g0014others(2): Show | 5 | 274 | 0.0183 | 13 | c.524 others(32): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 31/32 | chr17 | TogoVar | ||||||
| HELZ_chr17_67065444_67250196 | 67119993 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0005 | a0005c0007 | a0005c0007t0028 | a0005c0007t0028g0090 | 1 | 274 | 0.0037 | 13 | c.383 others(30): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 27/32 | chr17 | TogoVar | ||||||
| HELZ_chr17_67065444_67250196 | 67212314 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01074.hp1 HG01243.hp2 others(21): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0007a0001c0001t0018a0001c0001t0056others(6): Show | a0001c0001t0007g0161a0001c0001t0018g0002a0001c0001t0056g0146others(20): Show | 24 | 274 | 0.0876 | 13 | c.247 others(30): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 5/32 | chr17 | TogoVar | ||||||
| HEMGN_chr9_97921791_97943172 | 97923065 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 314 | 0.0032 | 13 | c.*43 others(24): Show |
HEMGN | ENSG00000136929.13 | transcript | ENST00000616898.2 | protein_coding | 3725 | chr9 | TogoVar | ||||||
| HEMK1_chr3_50564522_50601166 | 50591697 | T | TGTGTGTG others(6): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG01192.hp2 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0036a0001c0001t0050 | a0001c0001t0036g0001a0001c0001t0036g0007a0001c0001t0050g0001 | 3 | 320 | 0.0094 | 13 | c.*11 others(26): Show |
HEMK1 | ENSG00000114735.10 | transcript | ENST00000232854.9 | protein_coding | 11/11 | 11281 | chr3 | TogoVar | |||||
| HEPACAM2_chr7_93183534_93231469 | 93194921 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02486.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087a0001c0001t0001g0105a0001c0001t0001g0106 | 3 | 368 | 0.0082 | 13 | c.127 others(30): Show |
HEPACAM2 | ENSG00000188175.10 | transcript | ENST00000394468.7 | protein_coding | 8/9 | chr7 | TogoVar | ||||||
| HEPACAM_chr11_124914205_124941047 | 124914997 | T | TTGTCAAT others(6): Show |
downstream_gene_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 420 | 0.0024 | 13 | c.*61 others(24): Show |
HEPACAM | ENSG00000165478.8 | transcript | ENST00000298251.5 | protein_coding | 4207 | chr11 | TogoVar | ||||||
| HEPHL1_chr11_94016354_94119208 | 94042875 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp2 others(73): Show |
a0001a0012a0014others(1): Show | a0001c0001a0001c0006a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0006a0001c0001t0001g0126a0001c0001t0001g0138others(73): Show | 76 | 368 | 0.2065 | 13 | c.171 others(30): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| HEPHL1_chr11_94016354_94119208 | 94046091 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01978.hp1 NA18975.hp2 NA18984.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0159a0001c0001t0001g0309a0001c0001t0001g0324others(3): Show | 6 | 368 | 0.0163 | 13 | c.415 others(28): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| HEPH_chrX_66159247_66272389 | 66200273 | T | TGTGTGTG others(6): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0081 | 1 | 218 | 0.0046 | 13 | c.186 others(30): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | chrX | TogoVar | ||||||
| HEPN1_chr11_124914250_124925677 | 124914997 | T | TTGTCAAT others(6): Show |
upstream_gene_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 428 | 0.0023 | 13 | c.-47 others(24): Show |
HEPN1 | ENSG00000221932.7 | transcript | ENST00000408930.7 | protein_coding | 4252 | chr11 | TogoVar | ||||||
| HERC1_chr15_63603618_63838948 | 63720103 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0178 | 1 | 216 | 0.0046 | 13 | c.374 others(32): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 19/77 | chr15 | TogoVar | ||||||
| HERC1_chr15_63603618_63838948 | 63739195 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0002 | a0002c0017 | a0002c0017t0001 | a0002c0017t0001g0103a0002c0017t0001g0104 | 2 | 216 | 0.0093 | 13 | c.252 others(32): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 12/77 | chr15 | TogoVar | ||||||
| HERC1_chr15_63603618_63838948 | 63821726 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00408.hp1 NA18980.hp2 |
a0007 | a0007c0037a0007c0038 | a0007c0037t0001a0007c0038t0001 | a0007c0037t0001g0100a0007c0038t0001g0099 | 2 | 216 | 0.0093 | 13 | c.-27 others(32): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | ||||||
| HERC1_chr15_63603618_63838948 | 63826800 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 216 | 0.0046 | 13 | c.-27 others(30): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | ||||||
| HERC1_chr15_63603618_63838948 | 63826802 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG01106.hp1 HG03195.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0149a0001c0006t0001g0129 | 2 | 216 | 0.0093 | 13 | c.-27 others(30): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | ||||||
| HERC1_chr15_63603618_63838948 | 63826806 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02015.hp2 HG02257.hp2 others(1): Show |
a0001a0019 | a0001c0001a0019c0035 | a0001c0001t0001a0019c0035t0001 | a0001c0001t0001g0156a0001c0001t0001g0187a0001c0001t0001g0198others(1): Show | 4 | 216 | 0.0185 | 13 | c.-27 others(30): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | ||||||
| HERC1_chr15_63603618_63838948 | 63826814 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0019 | a0002c0019t0002 | a0002c0019t0002g0093 | 1 | 216 | 0.0046 | 13 | c.-27 others(30): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | ||||||
| HERC1_chr15_63603618_63838948 | 63826814 | A | AAAAAAAT others(6): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0019 | a0002c0019t0002 | a0002c0019t0002g0094 | 1 | 216 | 0.0046 | 13 | c.-27 others(30): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | ||||||
| HERC2_chr15_28106040_28327179 | 28262669 | T | TGGCAGTG others(6): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(104): Show |
a0001a0003a0004others(13): Show | a0001c0003a0001c0011a0001c0013others(32): Show | a0001c0003t0001a0001c0003t0002a0001c0011t0001others(35): Show | a0001c0003t0001g0017a0001c0003t0001g0185a0001c0003t0001g0187others(104): Show | 107 | 250 | 0.4280 | 13 | c.212 others(30): Show |
HERC2 | ENSG00000128731.18 | transcript | ENST00000261609.13 | protein_coding | 15/92 | chr15 | TogoVar | ||||||
| HERC3_chr4_88587480_88713539 | 88704863 | C | CTTTCTTT others(6): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(52): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0003a0001c0001t0010a0001c0001t0019others(4): Show | a0001c0001t0003g0007a0001c0001t0003g0008a0001c0001t0003g0011others(50): Show | 55 | 296 | 0.1858 | 13 | c.294 others(30): Show |
HERC3 | ENSG00000138641.18 | transcript | ENST00000402738.6 | protein_coding | 25/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |