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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HEATR9_chr17_35849955_35873891 | 35860479 | T | TTTATTTA others(4): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0075 | 1 | 379 | 0.0026 | 11 | c.757 others(28): Show |
HEATR9 | ENSG00000270379.6 | transcript | ENST00000604834.6 | protein_coding | 8/14 | chr17 | TogoVar | ||||||
HEBP1_chr12_12969870_13005265 | 12987590 | T | TCTCTCTC others(4): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0183 | 1 | 396 | 0.0025 | 11 | c.218 others(26): Show |
HEBP1 | ENSG00000013583.10 | transcript | ENST00000014930.9 | protein_coding | 2/3 | chr12 | TogoVar | ||||||
HECTD1_chr14_31095117_31212793 | 31134042 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0336 | 1 | 342 | 0.0029 | 11 | c.357 others(28): Show |
HECTD1 | ENSG00000092148.14 | transcript | ENST00000399332.6 | protein_coding | 22/42 | chr14 | TogoVar | ||||||
HECTD1_chr14_31095117_31212793 | 31156549 | A | ACACACAC others(4): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0003 | a0003c0014 | a0003c0014t0001 | a0003c0014t0001g0080 | 1 | 342 | 0.0029 | 11 | c.193 others(28): Show |
HECTD1 | ENSG00000092148.14 | transcript | ENST00000399332.6 | protein_coding | 12/42 | chr14 | TogoVar | ||||||
HECTD4_chr12_112155195_112387431 | 112189550 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03453.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0075a0001c0001t0004g0076a0001c0001t0004g0078 | 3 | 270 | 0.0111 | 11 | c.947 others(30): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 60/75 | chr12 | TogoVar | ||||||
HECTD4_chr12_112155195_112387431 | 112262515 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03139.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0061a0001c0001t0004g0069a0001c0001t0004g0072 | 3 | 270 | 0.0111 | 11 | c.274 others(30): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 17/75 | chr12 | TogoVar | ||||||
HECTD4_chr12_112155195_112387431 | 112290848 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01081.hp2 HG01256.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0174a0001c0002t0001g0176a0001c0002t0001g0179others(1): Show | 4 | 270 | 0.0148 | 11 | c.133 others(30): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 7/75 | chr12 | TogoVar | ||||||
HECTD4_chr12_112155195_112387431 | 112324102 | C | CTTTCTTT others(4): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0029 | a0001c0029t0001 | a0001c0029t0001g0122 | 1 | 270 | 0.0037 | 11 | c.178 others(28): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/75 | chr12 | TogoVar | ||||||
HECW1_chr7_43107647_43571001 | 43319393 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 182 | 0.0055 | 11 | c.353 others(28): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HECW1_chr7_43107647_43571001 | 43319601 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0135 | 1 | 182 | 0.0055 | 11 | c.353 others(28): 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(4): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0171 | 1 | 182 | 0.0055 | 11 | c.555 others(30): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HECW1_chr7_43107647_43571001 | 43459079 | A | ATGCCTCC others(4): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02559.hp2 HG03139.hp1 |
a0001 | a0001c0002a0001c0012 | a0001c0002t0005a0001c0012t0007 | a0001c0002t0005g0059a0001c0002t0005g0180a0001c0012t0007g0079 | 3 | 182 | 0.0165 | 11 | c.265 others(30): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 13/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HECW1_chr7_43107647_43571001 | 43481888 | A | AGGCAGGA others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00438.hp1 others(50): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0004others(15): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(25): Show | a0001c0002t0001g0104a0001c0002t0001g0141a0001c0002t0001g0172others(50): Show | 53 | 182 | 0.2912 | 11 | c.323 others(30): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HECW2_chr2_196189072_196598554 | 196423715 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | HG03710.hp1 NA21309.hp2 |
a0001 | a0001c0008a0001c0009 | a0001c0008t0005a0001c0009t0001 | a0001c0008t0005g0086a0001c0009t0001g0040 | 2 | 112 | 0.0179 | 11 | c.292 others(28): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 2/28 | chr2 | TogoVar | ||||||
HEG1_chr3_124960710_125060997 | 125036209 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0005 | a0005c0007 | a0005c0007t0123 | a0005c0007t0123g0351 | 1 | 362 | 0.0028 | 11 | c.317 others(28): Show |
HEG1 | ENSG00000173706.15 | transcript | ENST00000311127.9 | protein_coding | 1/16 | chr3 | TogoVar | ||||||
HELQ_chr4_83402346_83460823 | 83411625 | A | AAATAAAT others(4): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0003 | a0003c0015 | a0003c0015t0001 | a0003c0015t0001g0103 | 1 | 316 | 0.0032 | 11 | c.319 others(30): Show |
HELQ | ENSG00000163312.11 | transcript | ENST00000295488.8 | protein_coding | 17/17 | chr4 | TogoVar | ||||||
HELT_chr4_185013490_185025953 | 185022278 | C | CAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0002g0003 | 2 | 454 | 0.0044 | 11 | c.*15 others(22): Show |
HELT | ENSG00000187821.9 | transcript | ENST00000515777.6 | protein_coding | 1326 | chr4 | TogoVar | ||||||
HELT_chr4_185013490_185025953 | 185023078 | T | TCTCTCTC others(4): Show |
downstream_gene_variant | MODIFIER | HG02165.hp2 NA18960.hp2 NA18965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 4 | 454 | 0.0088 | 11 | c.*23 others(22): Show |
HELT | ENSG00000187821.9 | transcript | ENST00000515777.6 | protein_coding | 2126 | chr4 | TogoVar | ||||||
HELT_chr4_185013490_185025953 | 185023079 | C | CTCTCTCT others(4): Show |
downstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 454 | 0.0022 | 11 | c.*23 others(22): Show |
HELT | ENSG00000187821.9 | transcript | ENST00000515777.6 | protein_coding | 2127 | chr4 | TogoVar | ||||||
HELZ_chr17_67065444_67250196 | 67094333 | A | AAAGAGAG others(4): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03225.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0039 | a0001c0001t0018g0002a0001c0001t0018g0004a0001c0001t0039g0003 | 3 | 274 | 0.0110 | 11 | c.524 others(30): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 31/32 | chr17 | TogoVar | ||||||
HELZ_chr17_67065444_67250196 | 67094333 | A | AGAGAGAG others(4): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0099a0001c0001t0013g0100 | 2 | 274 | 0.0073 | 11 | c.524 others(30): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 31/32 | chr17 | TogoVar | ||||||
HELZ_chr17_67065444_67250196 | 67119993 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02293.hp1 HG02572.hp1 HG02622.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0061 | a0001c0001t0001g0168a0001c0001t0007g0164a0001c0001t0007g0165others(2): Show | 5 | 274 | 0.0183 | 11 | c.383 others(28): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 27/32 | chr17 | TogoVar | ||||||
HELZ_chr17_67065444_67250196 | 67212314 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG02451.hp1 others(6): Show |
a0001a0011 | a0001c0001a0001c0003a0011c0016 | a0001c0001t0013a0001c0001t0039a0001c0003t0002others(2): Show | a0001c0001t0013g0099a0001c0001t0013g0100a0001c0001t0039g0003others(6): Show | 9 | 274 | 0.0329 | 11 | c.247 others(28): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 5/32 | chr17 | TogoVar | ||||||
HEMGN_chr9_97921791_97943172 | 97923065 | C | CAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | NA18944.hp1 NA18963.hp2 NA18979.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007a0001c0001t0002g0027a0001c0001t0002g0085others(1): Show | 8 | 314 | 0.0255 | 11 | c.*43 others(22): Show |
HEMGN | ENSG00000136929.13 | transcript | ENST00000616898.2 | protein_coding | 3725 | chr9 | TogoVar | ||||||
HEPACAM2_chr7_93183534_93231469 | 93194921 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG00733.hp1 others(68): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0023others(44): Show | 71 | 368 | 0.1929 | 11 | c.127 others(28): Show |
HEPACAM2 | ENSG00000188175.10 | transcript | ENST00000394468.7 | protein_coding | 8/9 | chr7 | TogoVar | ||||||
HEPACAM2_chr7_93183534_93231469 | 93194939 | T | TTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 368 | 0.0027 | 11 | c.127 others(28): Show |
HEPACAM2 | ENSG00000188175.10 | transcript | ENST00000394468.7 | protein_coding | 8/9 | chr7 | TogoVar | ||||||
HEPHL1_chr11_94016354_94119208 | 94042875 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02559.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0333a0001c0001t0002g0102a0001c0001t0003g0103 | 3 | 368 | 0.0082 | 11 | c.171 others(28): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HEPHL1_chr11_94016354_94119208 | 94042891 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03831.hp2 NA18955.hp1 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0007a0001c0001t0002g0278a0001c0001t0003g0104 | 3 | 368 | 0.0082 | 11 | c.171 others(28): 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(4): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00621.hp2 others(43): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0006a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0006a0001c0001t0001g0126a0001c0001t0001g0128others(43): Show | 46 | 368 | 0.1250 | 11 | c.415 others(26): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HEPHL1_chr11_94016354_94119208 | 94056657 | T | TATCTATC others(4): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00621.hp2 HG00639.hp2 others(18): Show |
a0001a0003a0009 | a0001c0001a0001c0007a0001c0025others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0055a0001c0001t0001g0056a0001c0001t0001g0061others(18): Show | 21 | 368 | 0.0571 | 11 | c.416 others(28): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 2/19 | chr11 | TogoVar | ||||||
HEPHL1_chr11_94016354_94119208 | 94115607 | A | ATATATAT others(4): Show |
downstream_gene_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 368 | 0.0027 | 11 | c.*37 others(22): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 1400 | chr11 | TogoVar | ||||||
HEPH_chrX_66159247_66272389 | 66206339 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01106.hp1 HG01358.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0188a0001c0002t0001g0006a0001c0002t0001g0057 | 3 | 218 | 0.0138 | 11 | c.229 others(28): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
HERC1_chr15_63603618_63838948 | 63720103 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02895.hp1 HG03579.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0181a0001c0004t0001g0183a0001c0004t0001g0197 | 3 | 216 | 0.0139 | 11 | c.374 others(30): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 19/77 | chr15 | TogoVar | ||||||
HERC1_chr15_63603618_63838948 | 63737494 | A | ATATCTTT others(4): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01106.hp2 HG01891.hp2 others(1): Show |
a0002 | a0002c0003a0002c0012 | a0002c0003t0001a0002c0012t0001 | a0002c0003t0001g0077a0002c0003t0001g0080a0002c0003t0001g0081others(1): Show | 4 | 216 | 0.0185 | 11 | c.252 others(30): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 12/77 | chr15 | TogoVar | ||||||
HERC1_chr15_63603618_63838948 | 63737538 | T | TCTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0008 | a0008c0036 | a0008c0036t0002 | a0008c0036t0002g0098 | 1 | 216 | 0.0046 | 11 | c.252 others(30): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 12/77 | chr15 | TogoVar | ||||||
HERC1_chr15_63603618_63838948 | 63826798 | A | AAATATAT others(4): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 216 | 0.0046 | 11 | c.-27 others(28): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | ||||||
HERC1_chr15_63603618_63838948 | 63826798 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 216 | 0.0046 | 11 | c.-27 others(28): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | ||||||
HERC1_chr15_63603618_63838948 | 63826804 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 216 | 0.0046 | 11 | c.-27 others(28): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | ||||||
HERC1_chr15_63603618_63838948 | 63826806 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 216 | 0.0046 | 11 | c.-27 others(28): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | ||||||
HERC1_chr15_63603618_63838948 | 63826808 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 216 | 0.0046 | 11 | c.-27 others(28): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | ||||||
HERC2_chr15_28106040_28327179 | 28291909 | G | GAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0032 | a0032c0065 | a0032c0065t0002 | a0032c0065t0002g0096 | 1 | 250 | 0.0040 | 11 | c.322 others(26): Show |
HERC2 | ENSG00000128731.18 | transcript | ENST00000261609.13 | protein_coding | 4/92 | chr15 | TogoVar | ||||||
HERC4_chr10_67916905_68080283 | 67947497 | T | TAAGATAA others(4): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124a0001c0001t0001g0125 | 2 | 360 | 0.0056 | 11 | c.233 others(30): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 19/24 | chr10 | TogoVar | ||||||
HERC4_chr10_67916905_68080283 | 68059640 | T | TATATCAT others(4): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199a0001c0001t0001g0200 | 2 | 360 | 0.0056 | 11 | c.226 others(30): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 3/24 | chr10 | TogoVar | ||||||
HERC4_chr10_67916905_68080283 | 68075435 | G | GGGGGGGG others(4): Show |
upstream_gene_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 360 | 0.0028 | 11 | c.-40 others(20): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 153 | chr10 | TogoVar | ||||||
HERC6_chr4_88373852_88448097 | 88380183 | A | AATATATA others(4): Show |
intron_variant | MODIFIER | HG01516.hp2 HG03942.hp2 NA20905.hp2 |
a0007 | a0007c0011 | a0007c0011t0001 | a0007c0011t0001g0094a0007c0011t0001g0095a0007c0011t0001g0142 | 3 | 174 | 0.0172 | 11 | c.199 others(28): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
HERPUD1_chr16_56927142_56949864 | 56934702 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01361.hp2 HG02109.hp1 others(7): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0015a0002c0002t0001g0060a0002c0002t0001g0061others(2): Show | 10 | 428 | 0.0234 | 11 | c.148 others(26): Show |
HERPUD1 | ENSG00000051108.15 | transcript | ENST00000439977.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
HERPUD2_chr7_35627659_35700135 | 35673296 | G | GAAAAGAA others(4): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0122 | 1 | 392 | 0.0026 | 11 | c.148 others(24): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 2/8 | chr7 | TogoVar | ||||||
HERPUD2_chr7_35627659_35700135 | 35698914 | C | CAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(229): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(229): Show | 232 | 392 | 0.5918 | 11 | c.-44 others(22): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 3780 | chr7 | TogoVar | ||||||
HES1_chr3_194131148_194143732 | 194135491 | T | TGGGGTGG others(4): Show |
upstream_gene_variant | MODIFIER | NA18960.hp1 NA18983.hp2 |
a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0008 | 2 | 434 | 0.0046 | 11 | c.-89 others(20): Show |
HES1 | ENSG00000114315.4 | transcript | ENST00000232424.4 | protein_coding | 656 | chr3 | TogoVar | ||||||
HEXA_chr15_72335924_72381014 | 72370697 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0249 | 1 | 354 | 0.0028 | 11 | c.253 others(28): Show |
HEXA | ENSG00000213614.11 | transcript | ENST00000268097.10 | protein_coding | 1/13 | chr15 | TogoVar |