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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HFE_chr6_26082429_26103343 | 26090442 | C | CAAAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG02698.hp1 HG02717.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0051others(4): Show | a0001c0001t0001g0071 a0001c0001t0003g0040 a0001c0001t0051g0129 others(7): Show |
11 | 87 | 0.1264 | 7 | c.77- others(20): Show |
HFE | ENSG00000010704.19 | transcript | ENST00000357618.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HFM1_chr1_91255766_91409837 | 91264361 | A | ATTTTTTT | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp2 HG01169.hp1 others(11): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0017 a0001c0001t0001g0259 a0001c0001t0001g0262 others(11): Show |
14 | 47 | 0.2979 | 7 | c.397 others(26): Show |
HFM1 | ENSG00000162669.16 | transcript | ENST00000370425.8 | protein_coding | 36/38 | chr1 | TogoVar | |||||||
HFM1_chr1_91255766_91409837 | 91272543 | A | AGACAAGC | intron_variant | MODIFIER | HG02886.hp2 NA19240.hp1 NA21309.hp2 |
a0001a0004 | a0001c0016a0004c0008 | a0001c0016t0001a0004c0008t0001 | a0001c0016t0001g0141 a0004c0008t0001g0318 a0004c0008t0001g0319 |
3 | 360 | 0.0083 | 7 | c.377 others(26): Show |
HFM1 | ENSG00000162669.16 | transcript | ENST00000370425.8 | protein_coding | 34/38 | chr1 | TogoVar | |||||||
HGF_chr7_81694010_81775047 | 81708524 | C | CTTTTTTT | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG03041.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(1): Show | a0001c0001t0001g0048 a0001c0001t0008g0028 a0001c0001t0008g0077 others(4): Show |
7 | 50 | 0.1400 | 7 | c.154 others(26): Show |
HGF | ENSG00000019991.18 | transcript | ENST00000222390.11 | protein_coding | 13/17 | chr7 | TogoVar | |||||||
HHAT_chr1_210323902_210681290 | 210336287 | A | ATTTTTTT | intron_variant | MODIFIER | HG00733.hp2 HG01074.hp2 HG01515.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0180 a0001c0001t0001g0185 a0001c0001t0001g0201 others(11): Show |
14 | 48 | 0.2917 | 7 | c.-44 others(24): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210365315 | T | TTTTTTTG | intron_variant | MODIFIER | HG01081.hp2 HG01981.hp2 HG02258.hp1 others(10): Show |
a0001a0003 | a0001c0001a0003c0004a0003c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0082 a0001c0001t0002g0071 a0001c0001t0003g0138 others(10): Show |
13 | 265 | 0.0491 | 7 | c.159 others(24): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210496010 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(48): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0117 others(48): Show |
51 | 179 | 0.2849 | 7 | c.100 others(28): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210502383 | C | CAAAAAAA | intron_variant | MODIFIER | HG02257.hp1 HG02258.hp2 HG02723.hp2 others(6): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0010 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0144 a0001c0001t0001g0204 a0001c0001t0003g0138 others(6): Show |
9 | 83 | 0.1084 | 7 | c.100 others(28): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210520019 | T | TTTTTTTG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(125): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0013others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0076 a0001c0001t0001g0093 a0001c0001t0001g0095 others(125): Show |
128 | 266 | 0.4812 | 7 | c.104 others(26): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210590542 | C | CAAAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00642.hp2 others(21): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0111 others(21): Show |
24 | 38 | 0.6316 | 7 | c.124 others(26): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHEX_chr10_92684955_92700647 | 92685171 | T | TAACATAA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(351): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(38): Show |
354 | 372 | 0.9516 | 7 | c.-48 others(18): Show |
HHEX | ENSG00000152804.11 | transcript | ENST00000282728.10 | protein_coding | 4783 | chr10 | TogoVar | |||||||
HHIPL2_chr1_222517264_222553104 | 222534577 | T | TAAAAAAA | intron_variant | MODIFIER | HG00621.hp1 HG00733.hp2 HG00741.hp1 others(38): Show |
a0001a0004a0014 | a0001c0001a0001c0003a0004c0006others(2): Show | a0001c0001t0001a0001c0003t0001a0004c0006t0001others(2): Show | a0001c0001t0001g0058 a0001c0001t0001g0106 a0001c0003t0001g0010 others(27): Show |
41 | 378 | 0.1085 | 7 | c.157 others(26): Show |
HHIPL2 | ENSG00000143512.13 | transcript | ENST00000343410.7 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
HIBADH_chr7_27520442_27667883 | 27527917 | C | CTTTTTTT | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01256.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0022 others(6): Show |
9 | 67 | 0.1343 | 7 | c.853 others(24): Show |
HIBADH | ENSG00000106049.9 | transcript | ENST00000265395.7 | protein_coding | 7/7 | chr7 | TogoVar | |||||||
HIBADH_chr7_27520442_27667883 | 27626104 | G | GAAAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG00733.hp1 HG01361.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0001g0050 others(23): Show |
26 | 46 | 0.5652 | 7 | c.484 others(24): Show |
HIBADH | ENSG00000106049.9 | transcript | ENST00000265395.7 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
HIBADH_chr7_27520442_27667883 | 27645368 | A | ATGTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG00738.hp1 others(36): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0001t0001g0030 others(36): Show |
39 | 86 | 0.4535 | 7 | c.252 others(24): Show |
HIBADH | ENSG00000106049.9 | transcript | ENST00000265395.7 | protein_coding | 2/7 | chr7 | TogoVar | |||||||
HIC2_chr22_21412371_21456463 | 21416994 | G | GTAGCCCC | upstream_gene_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0020 a0001c0001t0006g0193 a0001c0001t0006g0197 |
4 | 285 | 0.0140 | 7 | c.-64 others(16): Show |
HIC2 | ENSG00000169635.10 | transcript | ENST00000407464.7 | protein_coding | 376 | chr22 | TogoVar | |||||||
HIC2_chr22_21412371_21456463 | 21425165 | T | TAAAAAAA | intron_variant | MODIFIER | HG01099.hp2 HG01168.hp2 HG01496.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0017others(1): Show | a0001c0001t0002g0022 a0001c0001t0002g0057 a0001c0001t0002g0073 others(7): Show |
12 | 26 | 0.4615 | 7 | c.-74 others(24): Show |
HIC2 | ENSG00000169635.10 | transcript | ENST00000407464.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
HIGD2B_chr15_72670798_72691182 | 72688411 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG01071.hp2 HG01109.hp2 HG01258.hp2 others(31): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0011 others(20): Show |
34 | 51 | 0.6667 | 7 | c.-27 others(18): Show |
HIGD2B | ENSG00000175202.6 | transcript | ENST00000311755.6 | protein_coding | 2230 | chr15 | TogoVar | |||||||
HIKESHI_chr11_86297240_86350943 | 86307085 | A | ATATATAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(282): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(250): Show |
285 | 396 | 0.7197 | 7 | c.268 others(22): Show |
HIKESHI | ENSG00000149196.17 | transcript | ENST00000278483.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HIKESHI_chr11_86297240_86350943 | 86318303 | C | CAAAAAAA | intron_variant | MODIFIER | HG00738.hp1 HG01256.hp1 HG01358.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0080 a0001c0001t0001g0091 a0001c0001t0002g0005 others(16): Show |
21 | 88 | 0.2386 | 7 | c.268 others(26): Show |
HIKESHI | ENSG00000149196.17 | transcript | ENST00000278483.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HINFP_chr11_119116580_119141059 | 119123128 | C | CAAAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG01074.hp2 HG01952.hp1 others(4): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0006a0001c0001t0007a0002c0002t0001others(1): Show | a0001c0001t0006g0198 a0001c0001t0006g0199 a0001c0001t0007g0210 others(4): Show |
7 | 17 | 0.4118 | 7 | c.-11 others(24): Show |
HINFP | ENSG00000172273.13 | transcript | ENST00000350777.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HINT3_chr6_125951770_125985244 | 125975584 | G | GTTTTTTT | intron_variant | MODIFIER | HG02647.hp1 HG02717.hp1 HG02895.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0002c0002t0002 | a0001c0001t0008g0077 a0001c0001t0008g0078 a0002c0002t0002g0011 others(2): Show |
7 | 72 | 0.0972 | 7 | c.516 others(22): Show |
HINT3 | ENSG00000111911.7 | transcript | ENST00000229633.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HIP1_chr7_75528298_75743941 | 75551189 | A | ATTTTTTT | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG02258.hp1 others(6): Show |
a0001a0009a0010 | a0001c0001a0001c0003a0001c0023others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(5): Show | a0001c0001t0001g0169 a0001c0001t0005g0236 a0001c0001t0008g0212 others(6): Show |
9 | 54 | 0.1667 | 7 | c.229 others(26): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 22/30 | chr7 | TogoVar | |||||||
HIP1_chr7_75528298_75743941 | 75597739 | C | CAAAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG00642.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0031 a0001c0001t0001g0051 a0001c0001t0001g0071 others(20): Show |
23 | 49 | 0.4694 | 7 | c.184 others(24): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 2/30 | chr7 | TogoVar | |||||||
HIP1_chr7_75528298_75743941 | 75616085 | C | CAAAAAAA | intron_variant | MODIFIER | HG01074.hp2 HG01891.hp1 HG02109.hp1 others(22): Show |
a0001a0003a0007others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(15): Show | a0001c0001t0003g0068 a0001c0001t0003g0091 a0001c0001t0003g0099 others(22): Show |
25 | 148 | 0.1689 | 7 | c.121 others(26): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | |||||||
HIP1_chr7_75528298_75743941 | 75650453 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00738.hp1 others(21): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0051 others(21): Show |
24 | 177 | 0.1356 | 7 | c.121 others(26): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | |||||||
HIP1_chr7_75528298_75743941 | 75670786 | C | CTTTTTTT | intron_variant | MODIFIER | HG00738.hp1 HG01261.hp1 HG01975.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0046 a0001c0001t0001g0157 a0001c0001t0002g0035 others(5): Show |
8 | 106 | 0.0755 | 7 | c.120 others(26): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | |||||||
HIPK1_chr1_113924324_113982869 | 113926117 | T | TAAAAAAA | upstream_gene_variant | MODIFIER | HG01358.hp1 HG01433.hp1 HG01496.hp1 others(7): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0007a0001c0003t0008 | a0001c0003t0003g0001 a0001c0003t0003g0011 a0001c0003t0003g0249 others(7): Show |
10 | 175 | 0.0571 | 7 | c.-34 others(18): Show |
HIPK1 | ENSG00000163349.22 | transcript | ENST00000426820.7 | protein_coding | 3206 | chr1 | TogoVar | |||||||
HIPK1_chr1_113924324_113982869 | 113938927 | A | ATATACAC | intron_variant | MODIFIER | HG01243.hp1 HG01346.hp2 HG01943.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0020 others(9): Show |
13 | 183 | 0.0710 | 7 | c.-2- others(22): Show |
HIPK1 | ENSG00000163349.22 | transcript | ENST00000426820.7 | protein_coding | 1/15 | chr1 | TogoVar | |||||||
HIRA_chr22_19325698_19436733 | 19390601 | C | CAAAAAAA | intron_variant | MODIFIER | HG02083.hp1 HG02647.hp2 HG03688.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0188 a0001c0001t0004g0303 a0001c0001t0004g0304 others(8): Show |
11 | 52 | 0.2115 | 7 | c.936 others(24): Show |
HIRA | ENSG00000100084.14 | transcript | ENST00000263208.5 | protein_coding | 9/24 | chr22 | TogoVar | |||||||
HIVEP1_chr6_12007312_12169999 | 12020890 | C | CTTTCTTT | intron_variant | MODIFIER | HG00408.hp1 HG01070.hp1 HG01071.hp1 others(20): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0002c0002others(5): Show | a0001c0001t0001a0001c0006t0003a0002c0002t0001others(5): Show | a0001c0001t0001g0075 a0001c0006t0003g0067 a0002c0002t0001g0066 others(19): Show |
23 | 88 | 0.2614 | 7 | c.40+ others(22): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HIVEP1_chr6_12007312_12169999 | 12141691 | C | CAAAAAAA | intron_variant | MODIFIER | HG01123.hp1 HG01928.hp2 HG02027.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0108 others(12): Show |
15 | 38 | 0.3947 | 7 | c.648 others(26): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HIVEP2_chr6_142746469_142950176 | 142793659 | T | TCTCTCTC | intron_variant | MODIFIER | HG02630.hp1 HG02886.hp1 HG03130.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0111 a0001c0002t0002g0121 a0001c0004t0001g0119 others(1): Show |
4 | 40 | 0.1000 | 7 | c.-52 others(28): Show |
HIVEP2 | ENSG00000010818.11 | transcript | ENST00000367603.8 | protein_coding | 2/9 | chr6 | TogoVar | |||||||
HIVEP2_chr6_142746469_142950176 | 142818733 | A | AAAGAAAG | intron_variant | MODIFIER | HG01261.hp1 NA18990.hp2 NA19000.hp1 |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0002t0002a0001c0008t0002 | a0001c0001t0001g0103 a0001c0002t0002g0020 a0001c0008t0002g0099 |
3 | 159 | 0.0189 | 7 | c.-52 others(28): Show |
HIVEP2 | ENSG00000010818.11 | transcript | ENST00000367603.8 | protein_coding | 2/9 | chr6 | TogoVar | |||||||
HIVEP3_chr1_41501365_41923922 | 41643890 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(55): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0003a0001c0004others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(45): Show | a0001c0001t0001g0109 a0001c0001t0002g0011 a0001c0001t0005g0035 others(55): Show |
58 | 74 | 0.7838 | 7 | c.-72 others(28): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
HIVEP3_chr1_41501365_41923922 | 41723501 | C | CACACACA | intron_variant | MODIFIER | HG02896.hp2 HG03516.hp1 |
a0023a0027 | a0023c0030a0027c0041 | a0023c0030t0025a0027c0041t0027 | a0023c0030t0025g0090 a0027c0041t0027g0005 |
2 | 44 | 0.0455 | 7 | c.-80 others(28): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
HIVEP3_chr1_41501365_41923922 | 41751324 | A | ATTTTTTT | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG01167.hp1 others(8): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0011others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0076others(8): Show | a0001c0001t0001g0125 a0001c0001t0005g0035 a0001c0001t0076g0131 others(8): Show |
11 | 16 | 0.6875 | 7 | c.-80 others(28): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
HK1_chr10_69273496_69406882 | 69403494 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02451.hp2 HG02717.hp1 others(8): Show |
a0001 | a0001c0006a0001c0007a0001c0010others(3): Show | a0001c0006t0003a0001c0006t0005a0001c0007t0003others(4): Show | a0001c0006t0003g0204 a0001c0006t0005g0001 a0001c0006t0005g0010 others(8): Show |
11 | 267 | 0.0412 | 7 | c.*23 others(18): Show |
HK1 | ENSG00000156515.25 | transcript | ENST00000643399.2 | protein_coding | 1613 | chr10 | TogoVar | |||||||
HK1_chr10_69313847_69406882 | 69403494 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02451.hp1 HG02602.hp2 others(11): Show |
a0001 | a0001c0006a0001c0008a0001c0012others(4): Show | a0001c0006t0002a0001c0008t0002a0001c0012t0005others(5): Show | a0001c0006t0002g0093 a0001c0006t0002g0148 a0001c0006t0002g0221 others(11): Show |
14 | 283 | 0.0495 | 7 | c.*23 others(18): Show |
HK1 | ENSG00000156515.25 | transcript | ENST00000359426.7 | protein_coding | 1613 | chr10 | TogoVar | |||||||
HLA-A_chr6_29937532_29950870 | 29948200 | C | CCCCCGTG | downstream_gene_variant | MODIFIER | HG00609.hp1 HG00735.hp2 HG01106.hp2 others(56): Show |
a0005a0009a0019others(6): Show | a0005c0005a0009c0009a0019c0021others(6): Show | a0005c0005t0003a0009c0009t0005a0019c0021t0010others(6): Show | a0005c0005t0003g0003 a0005c0005t0003g0034 a0009c0009t0005g0005 others(9): Show |
59 | 310 | 0.1903 | 7 | c.*27 others(18): Show |
HLA-A | ENSG00000206503.14 | transcript | ENST00000376809.10 | protein_coding | 2331 | chr6 | TogoVar | |||||||
HLA-B_chr6_31348875_31362179 | 31359111 | T | TTCATTTA | upstream_gene_variant | MODIFIER | HG01361.hp2 HG02015.hp2 HG02080.hp2 others(8): Show |
a0013a0058 | a0013c0013a0058c0074 | a0013c0013t0006a0058c0074t0032 | a0013c0013t0006g0012 a0058c0074t0032g0101 |
11 | 110 | 0.1000 | 7 | c.-19 others(18): Show |
HLA-B | ENSG00000234745.14 | transcript | ENST00000412585.7 | protein_coding | 1933 | chr6 | TogoVar | |||||||
HLA-C_chr6_31263749_31277092 | 31274079 | T | TCCTCCCC | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00597.hp1 others(45): Show |
a0006a0007a0009others(6): Show | a0006c0006a0007c0007a0009c0009others(6): Show | a0006c0006t0003a0007c0007t0003a0009c0009t0005others(6): Show | a0006c0006t0003g0006 a0007c0007t0003g0008 a0009c0009t0005g0009 others(8): Show |
48 | 447 | 0.1074 | 7 | c.-20 others(18): Show |
HLA-C | ENSG00000204525.18 | transcript | ENST00000376228.10 | protein_coding | 1988 | chr6 | TogoVar | |||||||
HLA-DOA_chr6_32999182_33014591 | 33012646 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG02486.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0096 | a0001c0001t0021g0017 a0001c0001t0096g0074 |
6 | 328 | 0.0183 | 7 | c.-31 others(18): Show |
HLA-DOA | ENSG00000204252.14 | transcript | ENST00000229829.7 | protein_coding | 3056 | chr6 | TogoVar | |||||||
HLA-DOB_chr6_32807763_32822002 | 32810160 | T | TTTTTTTA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00438.hp2 others(44): Show |
a0001a0005 | a0001c0001a0001c0005a0005c0009 | a0001c0001t0002a0001c0005t0002a0005c0009t0002 | a0001c0001t0002g0002 a0001c0001t0002g0018 a0001c0001t0002g0023 others(3): Show |
47 | 365 | 0.1288 | 7 | c.*30 others(18): Show |
HLA-DOB | ENSG00000241106.8 | transcript | ENST00000438763.7 | protein_coding | 2602 | chr6 | TogoVar | |||||||
HLA-DPA1_chr6_33059569_33078649 | 33062729 | C | CTAAAAAA | downstream_gene_variant | MODIFIER | HG02735.hp1 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 2 | 104 | 0.0192 | 7 | c.*26 others(18): Show |
HLA-DPA1 | ENSG00000231389.8 | transcript | ENST00000692443.1 | protein_coding | 1839 | chr6 | TogoVar | |||||||
HLA-DQA1_chr6_32632406_32648684 | 32640823 | A | AAAGAAAG | intron_variant | MODIFIER | HG01243.hp2 HG01255.hp1 HG01256.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0005 a0002c0002t0002g0007 |
7 | 84 | 0.0833 | 7 | c.83- others(20): Show |
HLA-DQA1 | ENSG00000196735.13 | transcript | ENST00000343139.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HLA-DQA2_chr6_32736391_32752198 | 32738737 | A | ACACCCCT | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00558.hp1 others(43): Show |
a0001a0003 | a0001c0004a0001c0010a0003c0005 | a0001c0004t0010a0001c0004t0011a0001c0010t0011others(2): Show | a0001c0004t0010g0011 a0001c0004t0010g0048 a0001c0004t0010g0049 others(9): Show |
46 | 454 | 0.1013 | 7 | c.-27 others(18): Show |
HLA-DQA2 | ENSG00000237541.4 | transcript | ENST00000374940.4 | protein_coding | 2653 | chr6 | TogoVar | |||||||
HLA-DQB1_chr6_32654467_32671657 | 32659058 | A | AAACAGAG | downstream_gene_variant | MODIFIER | HG00741.hp1 HG02486.hp2 HG02965.hp1 |
a0010 | a0010c0009 | a0010c0009t0010 | a0010c0009t0010g0023 | 3 | 400 | 0.0075 | 7 | c.*11 others(18): Show |
HLA-DQB1 | ENSG00000179344.17 | transcript | ENST00000434651.7 | protein_coding | 408 | chr6 | TogoVar | |||||||
HLA-DQB1_chr6_32654467_32671657 | 32667760 | A | ATGTATTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(79): Show |
a0002a0008a0013others(2): Show | a0002c0002a0002c0017a0008c0008others(3): Show | a0002c0002t0002a0002c0017t0002a0008c0008t0008others(4): Show | a0002c0002t0002g0008 a0002c0002t0002g0010 a0002c0002t0002g0024 others(13): Show |
82 | 355 | 0.2310 | 7 | c.-11 others(18): Show |
HLA-DQB1 | ENSG00000179344.17 | transcript | ENST00000434651.7 | protein_coding | 1104 | chr6 | TogoVar | |||||||
HLA-DRA_chr6_32434887_32450046 | 32449677 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00642.hp1 others(39): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0005 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0003g0004 others(4): Show |
42 | 77 | 0.5455 | 7 | c.*50 others(18): Show |
HLA-DRA | ENSG00000204287.14 | transcript | ENST00000395388.7 | protein_coding | 4632 | chr6 | TogoVar |