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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GXYLT1_chr12_42076845_42149874 | 42137762 | G | GGAAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01175.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008 | a0001c0001t0007g0347 a0001c0001t0008g0350 a0001c0001t0008g0351 others(7): Show |
10 | 72 | 0.1389 | 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(63): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(63): Show |
66 | 219 | 0.3014 | 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 |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0001c0013others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0008 a0001c0001t0001g0057 a0001c0001t0001g0182 others(148): Show |
155 | 311 | 0.4984 | 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 |
a0001a0002a0005 | a0001c0001a0001c0013a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0203 a0001c0001t0001g0238 a0001c0001t0001g0243 others(14): Show |
17 | 257 | 0.0661 | 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(24): Show |
a0001a0002a0003 | a0001c0003a0002c0002a0002c0006others(1): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(11): Show | a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0003t0001g0123 others(24): Show |
27 | 314 | 0.0860 | 7 | c.614 others(22): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GYS2_chr12_21531107_21609847 | 21585560 | G | GAAAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00642.hp1 others(20): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0008a0002c0002others(2): Show | a0001c0001t0001a0001c0008t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0015 a0001c0001t0001g0039 a0001c0001t0001g0091 others(17): Show |
23 | 285 | 0.0807 | 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 |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0003c0004others(2): Show | a0001c0001t0001a0003c0003t0001a0003c0004t0001others(2): Show | a0001c0001t0001g0000 a0003c0003t0001g0000 a0003c0004t0001g0000 others(2): Show |
38 | 146 | 0.2603 | 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 | a0001c0001t0001g0000 a0002c0002t0001g0000 a0003c0004t0001g0000 |
7 | 150 | 0.0467 | 7 | c.*29 others(18): Show |
H2AB1 | ENSG00000274183.2 | transcript | ENST00000620016.2 | protein_coding | 2823 | 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 | a0001c0001t0001g0000 a0001c0001t0003g0000 |
17 | 140 | 0.1214 | 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 | a0001c0001t0005g0005 a0001c0001t0005g0015 a0001c0001t0005g0057 others(4): Show |
19 | 199 | 0.0955 | 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 | 321 | 0.0093 | 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 | 269 | 0.0223 | 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 | 205 | 0.0098 | 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 | 147 | 0.2653 | 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 | a0001c0001t0001g0032 a0001c0001t0001g0168 a0001c0001t0001g0260 others(62): Show |
72 | 288 | 0.2500 | 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 | a0001c0001t0001g0179 a0001c0001t0001g0189 a0001c0001t0001g0280 others(15): Show |
18 | 96 | 0.1875 | 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 |
a0001a0002a0004 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0001g0028 others(72): Show |
86 | 150 | 0.5733 | 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 | a0002c0002t0001g0210 a0002c0002t0001g0226 a0002c0002t0001g0228 others(5): Show |
8 | 72 | 0.1111 | 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 | a0001c0002t0002g0021 a0001c0002t0002g0025 a0001c0002t0002g0028 others(5): Show |
8 | 226 | 0.0354 | 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 | a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 others(4): Show |
7 | 225 | 0.0311 | 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 | a0001c0001t0002g0037 a0001c0001t0002g0121 a0001c0001t0002g0122 others(15): Show |
21 | 153 | 0.1373 | 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 | a0002c0002t0002g0064 a0002c0002t0002g0072 a0002c0002t0002g0073 others(1): Show |
4 | 294 | 0.0136 | 7 | c.257 others(24): Show |
HACD1 | ENSG00000165996.14 | transcript | ENST00000361271.8 | protein_coding | 1/6 | chr10 | TogoVar | |||||||
HACE1_chr6_104723094_104864919 | 104740185 | T | TATAGCAC | intron_variant | MODIFIER | HG02257.hp2 HG02559.hp1 HG02615.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0076 others(2): Show |
7 | 344 | 0.0203 | 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 | a0001c0001t0001g0013 a0001c0001t0001g0074 a0001c0001t0001g0076 others(62): Show |
72 | 176 | 0.4091 | 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 | a0001c0001t0001g0022 a0001c0001t0001g0185 a0001c0001t0001g0187 others(4): Show |
7 | 342 | 0.0205 | 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 |
a0002a0013a0027 | a0002c0002a0013c0014a0027c0019 | a0002c0002t0001a0013c0014t0001a0027c0019t0001 | a0002c0002t0001g0058 a0002c0002t0001g0066 a0002c0002t0001g0094 others(2): Show |
5 | 292 | 0.0171 | 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 |
a0002a0012a0013others(3): Show | a0002c0002a0012c0012a0013c0014others(3): Show | a0002c0002t0001a0002c0002t0017a0002c0002t0020others(5): Show | a0002c0002t0001g0023 a0002c0002t0001g0025 a0002c0002t0001g0026 others(31): Show |
34 | 62 | 0.5484 | 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 | a0001c0001t0002g0030 a0001c0001t0002g0093 a0001c0001t0002g0168 others(2): Show |
5 | 144 | 0.0347 | 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 |
a0001a0008a0010others(2): Show | a0001c0001a0008c0017a0010c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0010 a0001c0001t0001g0033 a0001c0001t0001g0107 others(27): Show |
57 | 166 | 0.3434 | 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 | a0001c0001t0021g0079 a0001c0001t0038g0026 a0001c0001t0070g0152 others(2): Show |
5 | 357 | 0.0140 | 7 | c.-19 others(18): Show |
HAS2 | ENSG00000170961.7 | transcript | ENST00000303924.5 | protein_coding | 1406 | chr8 | TogoVar | |||||||
HAT1_chr2_171917461_171988686 | 171938075 | T | TCTCTCTC | intron_variant | MODIFIER | HG01934.hp1 HG03490.hp2 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 a0001c0001t0001g0271 a0001c0001t0001g0306 |
3 | 304 | 0.0099 | 7 | c.113 others(24): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
HAT1_chr2_171917461_171988686 | 171977558 | T | TATATATA | intron_variant | MODIFIER | HG01168.hp2 NA19007.hp1 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0001g0133 |
3 | 302 | 0.0099 | 7 | c.975 others(24): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 9/10 | chr2 | TogoVar | |||||||
HAX1_chr1_154267629_154280875 | 154267880 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00438.hp2 others(44): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0003 a0001c0001t0002g0002 a0001c0001t0002g0004 others(4): Show |
47 | 204 | 0.2304 | 7 | c.-48 others(18): Show |
HAX1 | ENSG00000143575.16 | transcript | ENST00000328703.12 | protein_coding | 4748 | chr1 | TogoVar | |||||||
HAX1_chr1_154267629_154280875 | 154277333 | T | TATATATA | downstream_gene_variant | MODIFIER | HG01891.hp1 HG01928.hp1 HG02055.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(1): Show |
19 | 301 | 0.0631 | 7 | c.*16 others(18): Show |
HAX1 | ENSG00000143575.16 | transcript | ENST00000328703.12 | protein_coding | 1459 | chr1 | TogoVar | |||||||
HBA1_chr16_171680_182522 | 173443 | G | GGGCCCTC | upstream_gene_variant | MODIFIER | HG02486.hp1 HG02486.hp2 HG02572.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0002t0001g0001 |
10 | 396 | 0.0253 | 7 | c.-32 others(18): Show |
HBA1 | ENSG00000206172.8 | transcript | ENST00000320868.9 | protein_coding | 3236 | chr16 | TogoVar | |||||||
HBA2_chr16_167876_178710 | 171220 | T | TATTATTA | upstream_gene_variant | MODIFIER | HG02572.hp2 HG02896.hp2 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 360 | 0.0111 | 7 | c.-16 others(18): Show |
HBA2 | ENSG00000188536.13 | transcript | ENST00000251595.11 | protein_coding | 1655 | chr16 | TogoVar | |||||||
HBA2_chr16_167876_178710 | 173443 | G | GGGCCCTC | intron_variant | MODIFIER | HG02486.hp1 HG02486.hp2 HG02572.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 11 | 384 | 0.0286 | 7 | c.301 others(20): Show |
HBA2 | ENSG00000188536.13 | transcript | ENST00000251595.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HBM_chr16_160978_171764 | 164740 | C | CGGTGCGG | upstream_gene_variant | MODIFIER | HG02027.hp2 HG02135.hp1 NA18986.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 6 | 190 | 0.0316 | 7 | c.-12 others(18): Show |
HBM | ENSG00000206177.7 | transcript | ENST00000356815.4 | protein_coding | 1237 | chr16 | TogoVar | |||||||
HBM_chr16_160978_171764 | 164867 | G | GGGGTCCC | upstream_gene_variant | MODIFIER | HG02027.hp2 HG02135.hp1 NA18986.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 6 | 364 | 0.0165 | 7 | c.-11 others(18): Show |
HBM | ENSG00000206177.7 | transcript | ENST00000356815.4 | protein_coding | 1110 | chr16 | TogoVar | |||||||
HBM_chr16_160978_171764 | 164928 | G | GGCGGGGA | upstream_gene_variant | MODIFIER | HG02027.hp2 HG02135.hp1 NA18986.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 5 | 363 | 0.0138 | 7 | c.-10 others(18): Show |
HBM | ENSG00000206177.7 | transcript | ENST00000356815.4 | protein_coding | 1049 | chr16 | TogoVar | |||||||
HBM_chr16_160978_171764 | 164932 | G | GGGCGGGC | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00609.hp2 others(69): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 |
72 | 367 | 0.1962 | 7 | c.-10 others(18): Show |
HBM | ENSG00000206177.7 | transcript | ENST00000356815.4 | protein_coding | 1045 | chr16 | TogoVar | |||||||
HBM_chr16_160978_171764 | 171220 | T | TATTATTA | downstream_gene_variant | MODIFIER | HG02572.hp1 HG03041.hp1 HG03098.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0001 | 3 | 349 | 0.0086 | 7 | c.*45 others(18): Show |
HBM | ENSG00000206177.7 | transcript | ENST00000356815.4 | protein_coding | 4457 | chr16 | TogoVar | |||||||
HBS1L_chr6_134955378_135059822 | 134991097 | G | GGAGAAAT | intron_variant | MODIFIER | HG01099.hp2 HG03490.hp1 HG03492.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0030 | a0001c0002t0004g0201 a0001c0002t0004g0222 a0001c0002t0030g0009 |
4 | 346 | 0.0116 | 7 | c.108 others(26): Show |
HBS1L | ENSG00000112339.15 | transcript | ENST00000367837.10 | protein_coding | 8/17 | chr6 | TogoVar | |||||||
HBS1L_chr6_134955378_135059822 | 135040344 | C | CCTTTTTT | intron_variant | MODIFIER | HG01978.hp1 HG03688.hp2 HG03834.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(1): Show | a0001c0001t0001g0167 a0001c0001t0002g0257 a0001c0001t0002g0260 others(8): Show |
11 | 135 | 0.0815 | 7 | c.236 others(22): Show |
HBS1L | ENSG00000112339.15 | transcript | ENST00000367837.10 | protein_coding | 3/17 | chr6 | TogoVar | |||||||
HCAR3_chr12_122709756_122721811 | 122712605 | A | AAAAAAAG | downstream_gene_variant | MODIFIER | HG01257.hp2 HG01361.hp2 HG01891.hp1 others(12): Show |
a0001a0008 | a0001c0001a0008c0014 | a0001c0001t0002a0001c0001t0019a0008c0014t0002 | a0001c0001t0002g0000 a0001c0001t0019g0000 a0008c0014t0002g0000 |
15 | 292 | 0.0514 | 7 | c.*29 others(18): Show |
HCAR3 | ENSG00000255398.3 | transcript | ENST00000528880.3 | protein_coding | 2150 | chr12 | TogoVar | |||||||
HCK_chr20_32047242_32106856 | 32066331 | T | TTTTTTGA | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00609.hp1 others(58): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0043 others(57): Show |
61 | 113 | 0.5398 | 7 | c.63- others(22): Show |
HCK | ENSG00000101336.18 | transcript | ENST00000375852.5 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
HCK_chr20_32047242_32106856 | 32094705 | A | AAAGAAAG | intron_variant | MODIFIER | HG03491.hp1 HG03492.hp1 NA18982.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0128 a0001c0001t0001g0166 a0001c0002t0001g0191 |
3 | 89 | 0.0337 | 7 | c.124 others(24): Show |
HCK | ENSG00000101336.18 | transcript | ENST00000375852.5 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
HCLS1_chr3_121626399_121665903 | 121655462 | C | CTTTTTTT | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 HG02083.hp1 others(5): Show |
a0004 | a0004c0004a0004c0005 | a0004c0004t0004a0004c0005t0004 | a0004c0004t0004g0019 a0004c0004t0004g0071 a0004c0005t0004g0014 others(2): Show |
8 | 190 | 0.0421 | 7 | c.158 others(24): Show |
HCLS1 | ENSG00000180353.11 | transcript | ENST00000314583.8 | protein_coding | 3/13 | chr3 | TogoVar | |||||||
HCN1_chr5_45249948_45701380 | 45373999 | T | TTACATAC | intron_variant | MODIFIER | HG01261.hp2 HG01891.hp1 HG02055.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0121 a0001c0001t0005g0122 a0001c0001t0005g0123 others(7): Show |
10 | 223 | 0.0448 | 7 | c.123 others(28): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
HCST_chr19_35897529_35909377 | 35900074 | G | GCCCCCCC | upstream_gene_variant | MODIFIER | HG00621.hp2 HG00733.hp1 HG00733.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 |
15 | 52 | 0.2885 | 7 | c.-25 others(18): Show |
HCST | ENSG00000126264.10 | transcript | ENST00000246551.9 | protein_coding | 2454 | chr19 | TogoVar |