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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GTPBP6_chrX_299759_323796 | 321763 | A | AAAGAAAG | upstream_gene_variant | MODIFIER | NA19062.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0099 | 1 | 155 | 0.0065 | 7 | c.-29 others(18): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2968 | chrX | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 321763 | A | AAGAAAAG | upstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0067 | 1 | 155 | 0.0065 | 7 | c.-29 others(18): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2968 | chrX | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 321891 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG02027.hp2 HG04115.hp2 NA18941.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0039a0001c0001t0002g0037a0001c0001t0002g0058others(3): Show | 6 | 155 | 0.0387 | 7 | c.-31 others(18): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 3096 | chrX | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 322213 | A | AAAAAAAG | upstream_gene_variant | MODIFIER | HG03491.hp2 NA19077.hp1 |
a0001a0026 | a0001c0001a0026c0018 | a0001c0001t0002a0026c0018t0002 | a0001c0001t0002g0067a0026c0018t0002g0018 | 2 | 155 | 0.0129 | 7 | c.-34 others(18): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 3418 | chrX | TogoVar | ||||||
GUCA1B_chr6_42178284_42199956 | 42187418 | C | CCTTTTTT | intron_variant | MODIFIER | HG01243.hp2 HG01255.hp2 HG02109.hp2 others(14): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006a0001c0002t0008 | a0001c0002t0001g0020a0001c0002t0001g0136a0001c0002t0001g0137others(11): Show | 17 | 418 | 0.0407 | 7 | c.357 others(24): Show |
GUCA1B | ENSG00000112599.9 | transcript | ENST00000230361.4 | protein_coding | 2/3 | chr6 | TogoVar | ||||||
GUCA1B_chr6_42178284_42199956 | 42190361 | A | ATTTTTTT | intron_variant | MODIFIER | HG02572.hp2 HG02630.hp2 HG02818.hp2 others(9): Show |
a0001 | a0001c0002a0001c0010 | a0001c0002t0005a0001c0010t0024 | a0001c0002t0005g0022a0001c0002t0005g0036a0001c0002t0005g0041others(5): Show | 12 | 418 | 0.0287 | 7 | c.208 others(24): Show |
GUCA1B | ENSG00000112599.9 | transcript | ENST00000230361.4 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
GUCD1_chr22_24535438_24560138 | 24560090 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00673.hp1 HG00733.hp1 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0013others(4): Show | a0001c0001t0002g0004a0001c0001t0002g0036a0001c0001t0002g0101others(9): Show | 42 | 414 | 0.1015 | 7 | c.-51 others(18): Show |
GUCD1 | ENSG00000138867.17 | transcript | ENST00000435822.6 | protein_coding | 4953 | chr22 | TogoVar | ||||||
GUCY1A2_chr11_106669019_107023476 | 106698119 | A | ATTTTTTT | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01081.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(13): Show | a0001c0001t0001g0091a0001c0001t0003g0058a0001c0001t0003g0086others(24): Show | 27 | 256 | 0.1055 | 7 | c.199 others(28): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 7/7 | chr11 | TogoVar | ||||||
GUCY1A2_chr11_106669019_107023476 | 106709652 | G | GTTATATA | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG01081.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0005a0001c0001t0006a0001c0001t0027others(4): Show | a0001c0001t0005g0119a0001c0001t0006g0149a0001c0001t0006g0152others(6): Show | 9 | 256 | 0.0352 | 7 | c.183 others(24): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | ||||||
GUCY1A2_chr11_106669019_107023476 | 106709709 | G | GTTATATA | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01069.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0073a0001c0001t0002g0109a0001c0001t0002g0110others(12): Show | 15 | 256 | 0.0586 | 7 | c.183 others(26): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | ||||||
GUCY1A2_chr11_106669019_107023476 | 106709734 | G | GTTATATA | intron_variant | MODIFIER | HG02572.hp2 HG04184.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0049a0001c0003t0017 | a0001c0001t0049g0147a0001c0003t0017g0231 | 2 | 256 | 0.0078 | 7 | c.183 others(26): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | ||||||
GUCY1A2_chr11_106669019_107023476 | 106709759 | G | GTTATATA | intron_variant | MODIFIER | HG02572.hp2 HG03927.hp2 HG04184.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0001t0043a0001c0001t0049others(3): Show | a0001c0001t0004g0138a0001c0001t0043g0041a0001c0001t0049g0147others(3): Show | 6 | 256 | 0.0234 | 7 | c.183 others(26): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | ||||||
GUCY1A2_chr11_106669019_107023476 | 106944215 | C | CAAAAAAA | intron_variant | MODIFIER | HG00597.hp2 HG01346.hp2 HG01361.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0002g0084a0001c0001t0002g0110a0001c0001t0003g0079others(13): Show | 16 | 256 | 0.0625 | 7 | c.488 others(24): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 3/7 | chr11 | TogoVar | ||||||
GUCY2F_chrX_109367906_109487086 | 109416933 | C | CAAAAAAA | intron_variant | MODIFIER | HG02976.hp1 | a0011 | a0011c0012 | a0011c0012t0001 | a0011c0012t0001g0166 | 1 | 217 | 0.0046 | 7 | c.179 others(26): Show |
GUCY2F | ENSG00000101890.5 | transcript | ENST00000218006.3 | protein_coding | 8/19 | chrX | TogoVar | ||||||
GXYLT1_chr12_42076845_42149874 | 42137762 | G | GAAAAAAA | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG03098.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(2): Show | a0001c0001t0002g0300a0001c0001t0002g0301a0001c0001t0002g0324others(5): Show | 8 | 398 | 0.0201 | 7 | c.221 others(24): Show |
GXYLT1 | ENSG00000151233.11 | transcript | ENST00000398675.8 | protein_coding | 1/7 | chr12 | TogoVar | ||||||
GXYLT1_chr12_42076845_42149874 | 42137762 | G | GGAAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01175.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008 | a0001c0001t0007g0360a0001c0001t0008g0363a0001c0001t0008g0364others(7): Show | 10 | 398 | 0.0251 | 7 | c.221 others(24): Show |
GXYLT1 | ENSG00000151233.11 | transcript | ENST00000398675.8 | protein_coding | 1/7 | chr12 | TogoVar | ||||||
GXYLT2_chr3_72883046_72981915 | 72961674 | A | AAAAAAAG | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00642.hp1 others(64): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0004a0001c0001t0001g0012a0001c0001t0001g0013others(64): Show | 67 | 296 | 0.2264 | 7 | c.976 others(24): Show |
GXYLT2 | ENSG00000172986.13 | transcript | ENST00000389617.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GYG2_chrX_2823930_2887818 | 2842185 | C | CTTTCTTT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(152): Show |
a0001a0002a0005others(6): Show | a0001c0001a0001c0003a0001c0016others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0004a0001c0001t0001g0052a0001c0001t0001g0181others(151): Show | 155 | 316 | 0.4905 | 7 | c.8-1 others(20): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GYG2_chrX_2823930_2887818 | 2846056 | T | TATATATA | intron_variant | MODIFIER | HG00639.hp2 HG02004.hp2 HG02015.hp1 others(14): Show |
a0001a0002a0006 | a0001c0001a0001c0016a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0198a0001c0001t0001g0234a0001c0001t0001g0239others(14): Show | 17 | 316 | 0.0538 | 7 | c.149 others(24): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | chrX | TogoVar | ||||||
GYG2_chrX_2823930_2887818 | 2856726 | T | TATCTATC | intron_variant | MODIFIER | HG00099.hp1 HG00733.hp2 HG01243.hp1 others(25): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0002a0001c0003t0001a0001c0003t0002others(12): Show | a0001c0001t0002g0153a0001c0003t0001g0027a0001c0003t0001g0030others(25): Show | 28 | 316 | 0.0886 | 7 | c.614 others(22): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GYG2_chrX_2823930_2887818 | 2886383 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 316 | 0.0032 | 7 | c.*51 others(18): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3566 | chrX | TogoVar | ||||||
GYS2_chr12_21531107_21609847 | 21585560 | G | GAAAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00642.hp1 others(21): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0008a0002c0002others(2): Show | a0001c0001t0001a0001c0008t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0009a0001c0001t0001g0033a0001c0001t0001g0087others(19): Show | 24 | 312 | 0.0769 | 7 | c.122 others(24): Show |
GYS2 | ENSG00000111713.3 | transcript | ENST00000261195.3 | protein_coding | 1/15 | chr12 | TogoVar | ||||||
H1-6_chr6_26102412_26113135 | 26103843 | G | GAAAAAAA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG00733.hp2 others(35): Show |
a0001a0002a0011others(2): Show | a0001c0001a0002c0002a0002c0005others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0005t0001others(3): Show | a0001c0001t0001g0000a0002c0002t0001g0000a0002c0005t0001g0000others(3): Show | 38 | 408 | 0.0931 | 7 | c.*36 others(18): Show |
H1-6 | ENSG00000187475.6 | transcript | ENST00000338379.6 | protein_coding | 3568 | chr6 | TogoVar | ||||||
H2AB1_chrX_154879972_154890558 | 154888380 | A | ATTTTTTT | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02976.hp2 HG03041.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0002c0002t0001a0003c0004t0001 | a0001c0001t0001g0000a0002c0002t0001g0000a0003c0004t0001g0000 | 7 | 318 | 0.0220 | 7 | c.*29 others(18): Show |
H2AB1 | ENSG00000274183.2 | transcript | ENST00000620016.2 | protein_coding | 2823 | chrX | TogoVar | ||||||
H2AB2_chrX_155375709_155386299 | 155384120 | A | ATTTTTTT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG02602.hp1 HG02717.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0000a0002c0002t0001g0000 | 4 | 229 | 0.0175 | 7 | c.*29 others(18): Show |
H2AB2 | ENSG00000277858.2 | transcript | ENST00000354514.6 | protein_coding | 2822 | chrX | TogoVar | ||||||
H2AB3_chrX_155454415_155465005 | 155456569 | G | GAAAAAAA | downstream_gene_variant | MODIFIER | HG03225.hp1 NA18963.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 214 | 0.0094 | 7 | c.*30 others(18): Show |
H2AB3 | ENSG00000277745.1 | transcript | ENST00000615853.1 | protein_coding | 2845 | chrX | TogoVar | ||||||
H2AB3_chrX_155454415_155465005 | 155456570 | G | GAAAAAAA | downstream_gene_variant | MODIFIER | HG03579.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0000 | 1 | 214 | 0.0047 | 7 | c.*30 others(18): Show |
H2AB3 | ENSG00000277745.1 | transcript | ENST00000615853.1 | protein_coding | 2844 | chrX | TogoVar | ||||||
H2AJ_chr12_14769405_14780024 | 14779321 | A | ACTTTTTT | downstream_gene_variant | MODIFIER | HG00673.hp2 HG00735.hp2 HG01106.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0000a0001c0001t0003g0000 | 17 | 452 | 0.0376 | 7 | c.*44 others(18): Show |
H2AJ | ENSG00000246705.5 | transcript | ENST00000544848.3 | protein_coding | 4298 | chr12 | TogoVar | ||||||
H3-3B_chr17_75771434_75784779 | 75782993 | T | TTAAAAAA | upstream_gene_variant | MODIFIER | HG00423.hp2 HG01255.hp1 HG02738.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0040others(1): Show | a0001c0001t0005g0005a0001c0001t0005g0015a0001c0001t0005g0058others(4): Show | 19 | 432 | 0.0440 | 7 | c.-33 others(18): Show |
H3-3B | ENSG00000132475.10 | transcript | ENST00000254810.8 | protein_coding | 3215 | chr17 | TogoVar | ||||||
H3C15_chr1_149847608_149858125 | 149855424 | T | TGTGTGTG | downstream_gene_variant | MODIFIER | HG01071.hp1 HG03471.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 332 | 0.0090 | 7 | c.*23 others(18): Show |
H3C15 | ENSG00000203852.4 | transcript | ENST00000403683.2 | protein_coding | 2300 | chr1 | TogoVar | ||||||
H4C12_chr6_27826174_27836560 | 27832868 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 6 | 419 | 0.0143 | 7 | c.-13 others(18): Show |
H4C12 | ENSG00000273542.2 | transcript | ENST00000611927.2 | protein_coding | 1309 | chr6 | TogoVar | ||||||
H4C15_chr1_149855764_149866159 | 149865971 | A | AAAGAAAG | upstream_gene_variant | MODIFIER | HG00733.hp2 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 206 | 0.0097 | 7 | c.-48 others(18): Show |
H4C15 | ENSG00000270276.3 | transcript | ENST00000579512.3 | protein_coding | 4813 | chr1 | TogoVar | ||||||
H4C3_chr6_26098933_26109337 | 26103843 | G | GAAAAAAA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG00733.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 39 | 408 | 0.0956 | 7 | c.-10 others(16): Show |
H4C3 | ENSG00000197061.5 | transcript | ENST00000377803.4 | protein_coding | 89 | chr6 | TogoVar | ||||||
HAAO_chr2_42762089_42797583 | 42765676 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00597.hp2 others(69): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(5): Show | a0001c0001t0001g0020a0001c0001t0001g0178a0001c0001t0001g0278others(62): Show | 72 | 410 | 0.1756 | 7 | c.*17 others(18): Show |
HAAO | ENSG00000162882.15 | transcript | ENST00000294973.11 | protein_coding | 1412 | chr2 | TogoVar | ||||||
HAAO_chr2_42762089_42797583 | 42766818 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG01516.hp2 HG02132.hp1 HG02451.hp2 others(15): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0001others(3): Show | a0001c0001t0001g0189a0001c0001t0001g0199a0001c0001t0001g0298others(15): Show | 18 | 410 | 0.0439 | 7 | c.*61 others(16): Show |
HAAO | ENSG00000162882.15 | transcript | ENST00000294973.11 | protein_coding | 270 | chr2 | TogoVar | ||||||
HAAO_chr2_42762089_42797583 | 42791923 | G | GTGTGTGT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00544.hp1 others(83): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0015a0001c0001t0001g0228a0001c0001t0001g0229others(75): Show | 86 | 410 | 0.2098 | 7 | c.80+ others(20): Show |
HAAO | ENSG00000162882.15 | transcript | ENST00000294973.11 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
HAAO_chr2_42762089_42797583 | 42793849 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG01891.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0224a0002c0002t0001g0240a0002c0002t0001g0242others(5): Show | 8 | 410 | 0.0195 | 7 | c.-13 others(18): Show |
HAAO | ENSG00000162882.15 | transcript | ENST00000294973.11 | protein_coding | 1267 | chr2 | TogoVar | ||||||
HABP4_chr9_96445169_96496336 | 96475390 | C | CAAAAAAA | intron_variant | MODIFIER | HG01243.hp1 HG02559.hp1 HG02723.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0014a0001c0002t0002g0017a0001c0002t0002g0018others(5): Show | 8 | 306 | 0.0261 | 7 | c.827 others(24): Show |
HABP4 | ENSG00000130956.14 | transcript | ENST00000375249.5 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
HABP4_chr9_96445169_96496336 | 96475390 | C | CAACAAAA | intron_variant | MODIFIER | HG01081.hp1 HG01884.hp1 HG02622.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0067a0001c0001t0003g0068a0001c0001t0003g0069others(4): Show | 7 | 306 | 0.0229 | 7 | c.827 others(24): Show |
HABP4 | ENSG00000130956.14 | transcript | ENST00000375249.5 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
HACD1_chr10_17584032_17622374 | 17591976 | A | ATTTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG01106.hp1 HG01109.hp2 others(18): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0002c0002t0002a0003c0003t0003others(1): Show | a0001c0001t0002g0075a0001c0001t0002g0076a0001c0001t0002g0118others(16): Show | 21 | 410 | 0.0512 | 7 | c.785 others(24): Show |
HACD1 | ENSG00000165996.14 | transcript | ENST00000361271.8 | protein_coding | 6/6 | chr10 | TogoVar | ||||||
HACD1_chr10_17584032_17622374 | 17613144 | G | GTGTGTTT | intron_variant | MODIFIER | HG01255.hp1 HG03209.hp1 HG04204.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0287a0002c0002t0002g0294a0002c0002t0002g0295others(1): Show | 4 | 410 | 0.0098 | 7 | c.257 others(24): Show |
HACD1 | ENSG00000165996.14 | transcript | ENST00000361271.8 | protein_coding | 1/6 | chr10 | TogoVar | ||||||
HACD3_chr15_65525463_65583349 | 65537792 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(280): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(257): Show | 283 | 328 | 0.8628 | 7 | c.87+ others(22): Show |
HACD3 | ENSG00000074696.13 | transcript | ENST00000261875.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
HACE1_chr6_104723094_104864919 | 104740185 | T | TATAGCAC | intron_variant | MODIFIER | HG02257.hp2 HG02559.hp1 HG02615.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0076a0001c0002t0001g0077a0001c0002t0001g0078others(4): Show | 7 | 346 | 0.0202 | 7 | c.251 others(26): Show |
HACE1 | ENSG00000085382.12 | transcript | ENST00000262903.9 | protein_coding | 22/23 | chr6 | TogoVar | ||||||
HADHB_chr2_26239939_26295465 | 26292296 | T | TAAAAAAA | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(69): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0003t0006others(1): Show | a0001c0001t0001g0013a0001c0001t0001g0080a0001c0001t0001g0082others(63): Show | 72 | 290 | 0.2483 | 7 | c.*23 others(18): Show |
HADHB | ENSG00000138029.14 | transcript | ENST00000317799.10 | protein_coding | 1832 | chr2 | TogoVar | ||||||
HAO1_chr20_7877985_7945458 | 7924223 | G | GTTGTTGT | intron_variant | MODIFIER | HG00323.hp2 HG01081.hp1 HG01167.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0184a0001c0001t0001g0186others(4): Show | 7 | 348 | 0.0201 | 7 | c.290 others(24): Show |
HAO1 | ENSG00000101323.5 | transcript | ENST00000378789.4 | protein_coding | 2/7 | chr20 | TogoVar | ||||||
HAP1_chr17_41717640_41739643 | 41730054 | A | AGAGAGAG | intron_variant | MODIFIER | HG01433.hp2 HG02004.hp2 HG02129.hp1 others(2): Show |
a0002a0015a0023 | a0002c0002a0015c0014a0023c0019 | a0002c0002t0001a0015c0014t0001a0023c0019t0001 | a0002c0002t0001g0056a0002c0002t0001g0064a0002c0002t0001g0092others(2): Show | 5 | 374 | 0.0134 | 7 | c.106 others(26): Show |
HAP1 | ENSG00000173805.16 | transcript | ENST00000347901.9 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
HAP1_chr17_41717640_41739643 | 41733352 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00423.hp2 others(31): Show |
a0002a0012a0015others(3): Show | a0002c0002a0012c0012a0015c0014others(3): Show | a0002c0002t0001a0002c0002t0017a0002c0002t0020others(5): Show | a0002c0002t0001g0021a0002c0002t0001g0023a0002c0002t0001g0024others(31): Show | 34 | 374 | 0.0909 | 7 | c.470 others(22): Show |
HAP1 | ENSG00000173805.16 | transcript | ENST00000347901.9 | protein_coding | 1/10 | chr17 | TogoVar | ||||||
HARBI1_chr11_46597861_46622227 | 46619372 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02622.hp2 HG02809.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030a0001c0001t0002g0093a0001c0001t0002g0168others(2): Show | 5 | 258 | 0.0194 | 7 | c.-24 others(18): Show |
HARBI1 | ENSG00000180423.4 | transcript | ENST00000326737.3 | protein_coding | 2146 | chr11 | TogoVar | ||||||
HAS1_chr19_51708112_51728991 | 51714695 | T | TAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp1 HG01106.hp2 others(54): Show |
a0001a0009a0011others(2): Show | a0001c0001a0009c0012a0011c0017others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0010a0001c0001t0001g0032a0001c0001t0001g0106others(27): Show | 57 | 464 | 0.1228 | 7 | c.105 others(24): Show |
HAS1 | ENSG00000105509.11 | transcript | ENST00000540069.7 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
HAS2_chr8_121607116_121646440 | 121642845 | T | TCCCACCG | upstream_gene_variant | MODIFIER | HG01261.hp2 HG02886.hp2 HG03209.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0021a0001c0001t0038a0001c0001t0070others(2): Show | a0001c0001t0021g0078a0001c0001t0038g0024a0001c0001t0070g0156others(2): Show | 5 | 376 | 0.0133 | 7 | c.-19 others(18): Show |
HAS2 | ENSG00000170961.7 | transcript | ENST00000303924.5 | protein_coding | 1406 | chr8 | TogoVar |