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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HIBADH_chr7_27520442_27667883 | 27605586 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 326 | 0.0031 | -15 | c.484 others(34): Show |
HIBADH | ENSG00000106049.9 | transcript | ENST00000265395.7 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
HIBADH_chr7_27520442_27667883 | 27642642 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 326 | 0.0031 | -15 | c.252 others(32): Show |
HIBADH | ENSG00000106049.9 | transcript | ENST00000265395.7 | protein_coding | 2/7 | chr7 | TogoVar | |||||||
HIBCH_chr2_190198920_190324826 | 190226594 | TCAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG01516.hp1 NA19063.hp2 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0146 a0004c0005t0001g0111 |
2 | 368 | 0.0054 | -15 | c.892 others(34): Show |
HIBCH | ENSG00000198130.16 | transcript | ENST00000359678.10 | protein_coding | 11/13 | chr2 | TogoVar | |||||||
HID1_chr17_74945742_74977759 | 74976734 | AAAAAAAA others(8): Show |
A | upstream_gene_variant | MODIFIER | HG02145.hp1 | a0003 | a0003c0013 | a0003c0013t0001 | a0003c0013t0001g0076 | 1 | 364 | 0.0028 | -15 | c.-40 others(26): Show |
HID1 | ENSG00000167861.16 | transcript | ENST00000425042.7 | protein_coding | 3976 | chr17 | TogoVar | |||||||
HIGD1C_chr12_50947544_50975607 | 50970343 | TTAAATTG others(8): Show |
T | intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0127 | 1 | 380 | 0.0026 | -15 | c.230 others(28): Show |
HIGD1C | ENSG00000214511.4 | transcript | ENST00000695931.1 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
HIKESHI_chr11_86297240_86350943 | 86316771 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 398 | 0.0025 | -15 | c.268 others(34): Show |
HIKESHI | ENSG00000149196.17 | transcript | ENST00000278483.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HIP1R_chr12_122830457_122867961 | 122856099 | GGCCCAGC others(8): Show |
G | conservative_inframe_deletion | MODERATE | HG02040.hp2 | a0014 | a0014c0032 | a0014c0032t0001 | a0014c0032t0001g0004 | 1 | 348 | 0.0029 | -15 | c.125 others(24): Show |
p.Arg others(13): Show |
HIP1R | ENSG00000130787.14 | transcript | ENST00000253083.9 | protein_coding | 14/32 | 1352/4509 | 1258/3207 | 420/1068 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
HIP1_chr7_75528298_75743941 | 75564299 | TTGTTTAT others(8): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01255.hp1 HG02109.hp1 others(18): Show |
a0001a0007a0011 | a0001c0001a0001c0002a0007c0017others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0009 a0001c0001t0001g0108 a0001c0001t0001g0216 others(18): Show |
21 | 254 | 0.0827 | -15 | c.804 others(32): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 9/30 | chr7 | TogoVar | |||||||
HIP1_chr7_75528298_75743941 | 75589683 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0032 | 1 | 254 | 0.0039 | -15 | c.384 others(32): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 4/30 | chr7 | TogoVar | |||||||
HIP1_chr7_75528298_75743941 | 75602303 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0234 | 1 | 254 | 0.0039 | -15 | c.121 others(32): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | |||||||
HIP1_chr7_75528298_75743941 | 75647211 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02897.hp1 HG03139.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0021a0001c0001t0030 | a0001c0001t0002g0235 a0001c0001t0021g0233 a0001c0001t0030g0234 |
3 | 254 | 0.0118 | -15 | c.121 others(34): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | |||||||
HIP1_chr7_75528298_75743941 | 75733400 | TTTTCTTT others(8): Show |
T | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0163 | 1 | 254 | 0.0039 | -15 | c.120 others(32): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | |||||||
HIPK1_chr1_113924324_113982869 | 113944159 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0080 | 1 | 382 | 0.0026 | -15 | c.107 others(34): Show |
HIPK1 | ENSG00000163349.22 | transcript | ENST00000426820.7 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HIVEP1_chr6_12007312_12169999 | 12009120 | TGGCGGCG others(8): Show |
T | upstream_gene_variant | MODIFIER | HG00609.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0131 | 1 | 344 | 0.0029 | -15 | c.-35 others(26): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 3191 | chr6 | TogoVar | |||||||
HIVEP1_chr6_12007312_12169999 | 12011273 | CCCCCCCC others(8): Show |
C | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG03139.hp2 others(2): Show |
a0001a0006a0031 | a0001c0006a0006c0009a0031c0032 | a0001c0006t0001a0006c0009t0001a0031c0032t0001 | a0001c0006t0001g0068 a0006c0009t0001g0076 a0006c0009t0001g0199 others(2): Show |
5 | 344 | 0.0145 | -15 | c.-13 others(26): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 1038 | chr6 | TogoVar | |||||||
HIVEP1_chr6_12007312_12169999 | 12141691 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA18960.hp1 | a0034 | a0034c0033 | a0034c0033t0001 | a0034c0033t0001g0128 | 1 | 344 | 0.0029 | -15 | c.648 others(34): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HIVEP2_chr6_142746469_142950176 | 142777648 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG02818.hp1 HG03486.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0016others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0016t0001others(1): Show | a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0159 others(6): Show |
9 | 288 | 0.0313 | -15 | c.-43 others(34): Show |
HIVEP2 | ENSG00000010818.11 | transcript | ENST00000367603.8 | protein_coding | 3/9 | chr6 | TogoVar | |||||||
HIVEP2_chr6_142746469_142950176 | 142926643 | GAGTCAGG others(8): Show |
G | intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 288 | 0.0035 | -15 | c.-64 others(36): Show |
HIVEP2 | ENSG00000010818.11 | transcript | ENST00000367603.8 | protein_coding | 1/9 | chr6 | TogoVar | |||||||
HIVEP3_chr1_41501365_41923922 | 41528541 | TCACACCC others(8): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02896.hp1 HG03486.hp1 others(4): Show |
a0001a0003a0006others(3): Show | a0001c0047a0003c0007a0006c0012others(3): Show | a0001c0047t0024a0003c0007t0006a0006c0012t0010others(4): Show | a0001c0047t0024g0042 a0003c0007t0006g0051 a0006c0012t0010g0037 others(4): Show |
7 | 134 | 0.0522 | -15 | c.520 others(34): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
HIVEP3_chr1_41501365_41923922 | 41545307 | ACCATCGC others(8): Show |
A | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0066 | 1 | 134 | 0.0075 | -15 | c.520 others(36): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
HKDC1_chr10_69215332_69272552 | 69245570 | CAATAATA others(8): Show |
C | intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0104 | 1 | 380 | 0.0026 | -15 | c.876 others(30): Show |
HKDC1 | ENSG00000156510.13 | transcript | ENST00000354624.6 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
HLA-DPB1_chr6_33070990_33094696 | 33094259 | ACAGATGT others(8): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(208): Show |
a0001a0005a0006others(13): Show | a0001c0001a0005c0005a0005c0016others(15): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0018others(28): Show | a0001c0001t0002g0001 a0001c0001t0002g0018 a0001c0001t0002g0025 others(59): Show |
211 | 455 | 0.4637 | -15 | c.*77 others(26): Show |
HLA-DPB1 | ENSG00000223865.11 | transcript | ENST00000418931.7 | protein_coding | 4564 | chr6 | TogoVar | |||||||
HLA-DRA_chr6_32434887_32450046 | 32438270 | CAAAAAAA others(8): Show |
C | upstream_gene_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 459 | 0.0022 | -15 | c.-16 others(26): Show |
HLA-DRA | ENSG00000204287.14 | transcript | ENST00000395388.7 | protein_coding | 1616 | chr6 | TogoVar | |||||||
HLA-F_chr6_29718434_29732296 | 29722521 | CAAAAAAA others(8): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(103): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0004a0001c0012others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0012t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(7): Show |
106 | 443 | 0.2393 | -15 | c.-94 others(24): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 912 | chr6 | TogoVar | |||||||
HLA-F_chr6_29718434_29732296 | 29722774 | GGAAGAGG others(8): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG02976.hp1 HG04204.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 443 | 0.0090 | -15 | c.-68 others(24): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 659 | chr6 | TogoVar | |||||||
HLA-F_chr6_29718434_29732296 | 29722786 | GGAAGAAG others(8): Show |
G | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01081.hp1 HG01346.hp1 others(1): Show |
a0003a0004 | a0003c0003a0004c0005 | a0003c0003t0001a0004c0005t0001 | a0003c0003t0001g0008 a0004c0005t0001g0018 |
4 | 443 | 0.0090 | -15 | c.-67 others(24): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 647 | chr6 | TogoVar | |||||||
HLA-F_chr6_29718434_29732296 | 29724685 | TGGAATAC others(8): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02015.hp1 HG02056.hp1 others(52): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 55 | 443 | 0.1242 | -15 | c.610 others(30): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HLCS_chr21_36743626_36971669 | 36745558 | ATGCCAGT others(8): Show |
A | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02559.hp1 HG02717.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0031a0001c0001t0073a0002c0002t0025 | a0001c0001t0031g0057 a0001c0001t0031g0245 a0001c0001t0073g0246 others(2): Show |
5 | 258 | 0.0194 | -15 | c.*86 others(26): Show |
HLCS | ENSG00000159267.17 | transcript | ENST00000674895.3 | protein_coding | 3067 | chr21 | TogoVar | |||||||
HLCS_chr21_36743626_36971669 | 36888442 | AAAAATAT others(8): Show |
A | intron_variant | MODIFIER | HG03139.hp2 NA19043.hp2 |
a0001a0002 | a0001c0006a0002c0002 | a0001c0006t0023a0002c0002t0013 | a0001c0006t0023g0212 a0002c0002t0013g0147 |
2 | 258 | 0.0078 | -15 | c.189 others(34): Show |
HLCS | ENSG00000159267.17 | transcript | ENST00000674895.3 | protein_coding | 6/10 | chr21 | TogoVar | |||||||
HLCS_chr21_36743626_36971669 | 36888444 | AAATATAT others(8): Show |
A | intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 258 | 0.0039 | -15 | c.189 others(34): Show |
HLCS | ENSG00000159267.17 | transcript | ENST00000674895.3 | protein_coding | 6/10 | chr21 | TogoVar | |||||||
HLCS_chr21_36743626_36971669 | 36888446 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG02602.hp2 HG03195.hp2 NA18947.hp2 |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0008a0001c0003t0060a0001c0004t0068 | a0001c0001t0008g0055 a0001c0003t0060g0203 a0001c0004t0068g0088 |
3 | 258 | 0.0116 | -15 | c.189 others(34): Show |
HLCS | ENSG00000159267.17 | transcript | ENST00000674895.3 | protein_coding | 6/10 | chr21 | TogoVar | |||||||
HLF_chr17_55259960_55330187 | 55277234 | TATGTGTA others(8): Show |
T | intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 | 1 | 408 | 0.0025 | -15 | c.451 others(32): Show |
HLF | ENSG00000108924.14 | transcript | ENST00000226067.10 | protein_coding | 2/3 | chr17 | TogoVar | |||||||
HLTF_chr3_149025127_149091533 | 149057107 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0137 | 1 | 404 | 0.0025 | -15 | c.137 others(34): Show |
HLTF | ENSG00000071794.16 | transcript | ENST00000310053.10 | protein_coding | 13/24 | chr3 | TogoVar | |||||||
HLTF_chr3_149025127_149091533 | 149079373 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0290 | 1 | 404 | 0.0025 | -15 | c.229 others(32): Show |
HLTF | ENSG00000071794.16 | transcript | ENST00000310053.10 | protein_coding | 2/24 | chr3 | TogoVar | |||||||
HLX_chr1_220874443_220890059 | 220881762 | AAACACAC others(8): Show |
A | intron_variant | MODIFIER | HG02523.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0117 | 1 | 438 | 0.0023 | -15 | c.772 others(30): Show |
HLX | ENSG00000136630.13 | transcript | ENST00000366903.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HMBOX1_chr8_28885395_29058262 | 28960753 | CTTTTTCT others(8): Show |
C | intron_variant | MODIFIER | HG02056.hp1 HG03225.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008 | a0001c0001t0001g0316 a0001c0001t0006g0331 a0001c0001t0008g0001 |
3 | 344 | 0.0087 | -15 | c.-57 others(32): Show |
HMBOX1 | ENSG00000147421.18 | transcript | ENST00000287701.15 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HMBOX1_chr8_28885395_29058262 | 28973803 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02258.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0055 others(5): Show |
8 | 344 | 0.0233 | -15 | c.500 others(32): Show |
HMBOX1 | ENSG00000147421.18 | transcript | ENST00000287701.15 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HMBOX1_chr8_28885395_29058262 | 29001549 | CAAACAAA others(8): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG02572.hp1 HG02886.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0303 a0001c0001t0001g0307 a0001c0001t0014g0116 others(1): Show |
4 | 344 | 0.0116 | -15 | c.587 others(32): Show |
HMBOX1 | ENSG00000147421.18 | transcript | ENST00000287701.15 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HMCN1_chr1_185729391_186195949 | 185858586 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG02615.hp1 | a0009 | a0009c0010 | a0009c0010t0002 | a0009c0010t0002g0003 | 1 | 92 | 0.0109 | -15 | c.340 others(32): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HMCN1_chr1_185729391_186195949 | 186079096 | TAGCAGCT others(8): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(73): Show |
a0001a0003a0004others(35): Show | a0001c0001a0001c0015a0001c0027others(41): Show | a0001c0001t0001a0001c0001t0002a0001c0015t0001others(48): Show | a0001c0001t0001g0010 a0001c0001t0001g0035 a0001c0001t0001g0052 others(73): Show |
76 | 92 | 0.8261 | -15 | c.859 others(32): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 55/106 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HMCN2_chr9_130260760_130439123 | 130272229 | AAAAATAA others(8): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0015 | a0015c0168 | a0015c0168t0002 | a0015c0168t0002g0178 | 1 | 258 | 0.0039 | -15 | c.259 others(32): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 1/97 | chr9 | TogoVar | |||||||
HMCN2_chr9_130260760_130439123 | 130278018 | CCACCACC others(8): Show |
C | intron_variant | MODIFIER | HG02630.hp1 HG02970.hp1 HG03195.hp2 |
a0001a0071 | a0001c0224a0001c0225a0071c0120 | a0001c0224t0001a0001c0225t0001a0071c0120t0001 | a0001c0224t0001g0045 a0001c0225t0001g0257 a0071c0120t0001g0021 |
3 | 258 | 0.0116 | -15 | c.260 others(32): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 1/97 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
HMCN2_chr9_130260760_130439123 | 130317491 | CTCTCTCT others(8): Show |
C | intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0129 | a0002c0129t0001 | a0002c0129t0001g0044 | 1 | 258 | 0.0039 | -15 | c.235 others(34): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 15/97 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
HMG20B_chr19_3567944_3584083 | 3579741 | TCTCATCA others(8): Show |
T | downstream_gene_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 406 | 0.0025 | -15 | c.*12 others(26): Show |
HMG20B | ENSG00000064961.19 | transcript | ENST00000333651.11 | protein_coding | 659 | chr19 | TogoVar | |||||||
HMGA1_chr6_34231873_34251231 | 34239955 | ACCCATCT others(8): Show |
A | intron_variant | MODIFIER | HG02027.hp2 HG02040.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 2 | 322 | 0.0062 | -15 | c.-44 others(30): Show |
HMGA1 | ENSG00000137309.21 | transcript | ENST00000311487.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HMGA2_chr12_65819483_65971291 | 65824708 | ATCTCTTC others(8): Show |
A | 5_prime_UTR_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0145 | 1 | 236 | 0.0042 | -15 | c.-55 others(24): Show |
HMGA2 | ENSG00000149948.14 | transcript | ENST00000403681.7 | protein_coding | 1/5 | 543 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
HMGA2_chr12_65819483_65971291 | 65875589 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG03942.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0012a0001c0001t0129 | a0001c0001t0007g0017 a0001c0001t0012g0130 a0001c0001t0129g0196 |
3 | 236 | 0.0127 | -15 | c.249 others(34): Show |
HMGA2 | ENSG00000149948.14 | transcript | ENST00000403681.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
HMGA2_chr12_65819483_65971291 | 65905966 | AGTCATTA others(8): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00558.hp1 others(100): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0033 others(100): Show |
103 | 236 | 0.4364 | -15 | c.250 others(34): Show |
HMGA2 | ENSG00000149948.14 | transcript | ENST00000403681.7 | protein_coding | 3/4 | chr12 | TogoVar | |||||||
HMGB3_chrX_150978335_150995771 | 150983398 | CCCGCCGC others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00609.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0020others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0059 a0001c0001t0001g0060 others(5): Show |
12 | 330 | 0.0364 | -15 | c.-6+ others(26): Show |
HMGB3 | ENSG00000029993.15 | transcript | ENST00000325307.12 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
HMGCLL1_chr6_55429373_55584192 | 55477212 | TATATTAT others(8): Show |
T | intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0070 | 1 | 334 | 0.0030 | -15 | c.795 others(34): Show |
HMGCLL1 | ENSG00000146151.14 | transcript | ENST00000274901.9 | protein_coding | 7/8 | chr6 | TogoVar |