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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HELLS_chr10_94540788_94607099 | 94542798 | A | ATTTTTTT others(18): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 HG02897.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0023a0001c0002t0001g0038 | 2 | 358 | 0.0056 | 25 | c.-31 others(36): Show |
HELLS | ENSG00000119969.16 | transcript | ENST00000348459.10 | protein_coding | 2989 | chr10 | TogoVar | ||||||
HERC1_chr15_63603618_63838948 | 63720103 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01515.hp1 HG02922.hp2 HG03486.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0019 | a0001c0001t0001a0001c0004t0003a0002c0019t0002 | a0001c0001t0001g0162a0001c0004t0003g0177a0001c0004t0003g0180others(2): Show | 5 | 216 | 0.0232 | 25 | c.374 others(44): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 19/77 | chr15 | TogoVar | ||||||
HERC4_chr10_67916905_68080283 | 68059444 | A | AATATTAT others(18): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02818.hp2 HG02976.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0232a0001c0002t0002g0009a0001c0002t0002g0010others(1): Show | 4 | 360 | 0.0111 | 25 | c.226 others(44): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 3/24 | chr10 | TogoVar | ||||||
HES1_chr3_194131148_194143732 | 194141600 | G | GCGGCGGC others(18): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02486.hp2 HG02622.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009 | a0001c0001t0001g0002a0001c0001t0003g0001a0001c0001t0009g0005 | 5 | 434 | 0.0115 | 25 | c.*33 others(36): Show |
HES1 | ENSG00000114315.4 | transcript | ENST00000232424.4 | protein_coding | 2869 | chr3 | TogoVar | ||||||
HES5_chr1_2523745_2535263 | 2526362 | G | GCGCCCCC others(18): Show |
downstream_gene_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 427 | 0.0023 | 25 | c.*30 others(36): Show |
HES5 | ENSG00000197921.6 | transcript | ENST00000378453.4 | protein_coding | 2382 | chr1 | TogoVar | ||||||
HEY1_chr8_79759010_79772767 | 79769371 | A | ATCTTTTT others(18): Show |
upstream_gene_variant | MODIFIER | HG01952.hp2 HG02027.hp2 HG02148.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0002t0001g0025 | 5 | 460 | 0.0109 | 25 | c.-17 others(36): Show |
HEY1 | ENSG00000164683.19 | transcript | ENST00000354724.8 | protein_coding | 1605 | chr8 | TogoVar | ||||||
HFM1_chr1_91255766_91409837 | 91264361 | A | ATTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01169.hp2 NA18972.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0289a0002c0003t0001g0350 | 2 | 362 | 0.0055 | 25 | c.397 others(44): Show |
HFM1 | ENSG00000162669.16 | transcript | ENST00000370425.8 | protein_coding | 36/38 | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210334178 | A | ATTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01981.hp2 HG03834.hp2 |
a0003 | a0003c0004 | a0003c0004t0003a0003c0004t0006 | a0003c0004t0003g0135a0003c0004t0006g0136 | 2 | 268 | 0.0075 | 25 | c.-44 others(42): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210336287 | A | ATTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02148.hp1 HG02300.hp2 HG02572.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0103a0001c0001t0003g0149a0001c0001t0006g0102 | 3 | 268 | 0.0112 | 25 | c.-44 others(42): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210386230 | C | CTTTCTTT others(18): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0092 | 1 | 268 | 0.0037 | 25 | c.160 others(42): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210410523 | A | ATTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075 | 1 | 268 | 0.0037 | 25 | c.684 others(42): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHIPL1_chr14_99640129_99685569 | 99661421 | A | AGGAAGGA others(18): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0148 | 1 | 374 | 0.0027 | 25 | c.150 others(44): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
HHIPL1_chr14_99640129_99685569 | 99675515 | G | GGGCTGGG others(18): Show |
frameshift_variant | HIGH | HG02896.hp2 | a0000 | a0000c0014 | a0000c0014t0023 | a0000c0014t0023g0007 | 1 | 374 | 0.0027 | 25 | c.224 others(34): Show |
p.Cys others(5): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 9/9 | 2344/7371 | 2265/2349 | 755/782 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |
HHLA2_chr3_108291548_108383285 | 108321091 | T | TAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01175.hp2 NA19240.hp2 |
a0003a0004 | a0003c0004a0004c0006 | a0003c0004t0007a0004c0006t0005 | a0003c0004t0007g0216a0004c0006t0005g0044 | 2 | 322 | 0.0062 | 25 | c.-27 others(44): Show |
HHLA2 | ENSG00000114455.15 | transcript | ENST00000467761.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
HHLA2_chr3_108291548_108383285 | 108340908 | T | TTTTCCTT others(18): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0003 | a0003c0004 | a0003c0004t0007 | a0003c0004t0007g0216 | 1 | 322 | 0.0031 | 25 | c.-26 others(44): Show |
HHLA2 | ENSG00000114455.15 | transcript | ENST00000467761.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
HIGD2B_chr15_72670798_72691182 | 72687124 | C | CTTTTTTT others(18): Show |
upstream_gene_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 436 | 0.0023 | 25 | c.-15 others(36): Show |
HIGD2B | ENSG00000175202.6 | transcript | ENST00000311755.6 | protein_coding | 943 | chr15 | TogoVar | ||||||
HIKESHI_chr11_86297240_86350943 | 86307923 | A | ACAATATA others(18): Show |
intron_variant | MODIFIER | HG02080.hp1 NA18980.hp2 NA18997.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0014a0001c0001t0003g0202a0001c0001t0003g0203 | 4 | 398 | 0.0101 | 25 | c.268 others(42): Show |
HIKESHI | ENSG00000149196.17 | transcript | ENST00000278483.8 | protein_coding | 2/4 | chr11 | TogoVar | ||||||
HIKESHI_chr11_86297240_86350943 | 86307923 | A | ATAATATA others(18): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02622.hp2 HG03098.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0288a0001c0001t0001g0343a0001c0001t0001g0344others(2): Show | 5 | 398 | 0.0126 | 25 | c.268 others(42): Show |
HIKESHI | ENSG00000149196.17 | transcript | ENST00000278483.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HIKESHI_chr11_86297240_86350943 | 86308559 | T | TTTTATTT others(18): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03209.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0230a0001c0002t0001g0231 | 2 | 398 | 0.0050 | 25 | c.268 others(42): Show |
HIKESHI | ENSG00000149196.17 | transcript | ENST00000278483.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HIKESHI_chr11_86297240_86350943 | 86318303 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01123.hp1 HG01255.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0017a0001c0001t0001g0027a0001c0001t0001g0044others(12): Show | 16 | 398 | 0.0402 | 25 | c.268 others(44): Show |
HIKESHI | ENSG00000149196.17 | transcript | ENST00000278483.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HINFP_chr11_119116580_119141059 | 119129490 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02559.hp1 |
a0004 | a0004c0005 | a0004c0005t0006 | a0004c0005t0006g0209a0004c0005t0006g0210 | 2 | 404 | 0.0050 | 25 | c.182 others(42): Show |
HINFP | ENSG00000172273.13 | transcript | ENST00000350777.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HIP1_chr7_75528298_75743941 | 75682581 | G | GAAAACAA others(18): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026 | 1 | 254 | 0.0039 | 25 | c.120 others(44): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | ||||||
HIVEP1_chr6_12007312_12169999 | 12099183 | G | GGTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03225.hp2 HG03516.hp2 |
a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0155a0006c0009t0001g0199a0006c0009t0001g0316 | 3 | 344 | 0.0087 | 25 | c.94+ others(40): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 3/8 | chr6 | TogoVar | ||||||
HIVEP2_chr6_142746469_142950176 | 142793659 | T | TCTTTCTT others(18): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03579.hp2 |
a0001 | a0001c0004a0001c0011 | a0001c0004t0001a0001c0011t0006 | a0001c0004t0001g0119a0001c0011t0006g0037 | 2 | 288 | 0.0069 | 25 | c.-52 others(46): Show |
HIVEP2 | ENSG00000010818.11 | transcript | ENST00000367603.8 | protein_coding | 2/9 | chr6 | TogoVar | ||||||
HIVEP2_chr6_142746469_142950176 | 142793669 | T | TTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG02074.hp1 others(4): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0002 | a0001c0001t0001g0005a0001c0001t0001g0022a0001c0001t0001g0098others(4): Show | 7 | 288 | 0.0243 | 25 | c.-52 others(46): Show |
HIVEP2 | ENSG00000010818.11 | transcript | ENST00000367603.8 | protein_coding | 2/9 | chr6 | TogoVar | ||||||
HIVEP3_chr1_41501365_41923922 | 41598825 | A | ATTTATTT others(18): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03139.hp1 HG03225.hp2 others(5): Show |
a0001a0002a0005others(3): Show | a0001c0001a0002c0002a0005c0005others(3): Show | a0001c0001t0005a0002c0002t0067a0005c0005t0001others(5): Show | a0001c0001t0005g0055a0002c0002t0067g0049a0005c0005t0001g0007others(5): Show | 8 | 134 | 0.0597 | 25 | c.-52 others(46): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 3/8 | chr1 | TogoVar | ||||||
HJURP_chr2_233831702_233859535 | 233850861 | T | TCTGGTAG others(18): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0141 | 1 | 450 | 0.0022 | 25 | c.241 others(42): Show |
HJURP | ENSG00000123485.12 | transcript | ENST00000411486.7 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
HK1_chr10_69273496_69406882 | 69276118 | A | AAAAAAAT others(18): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 NA18986.hp1 NA19003.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0098a0001c0001t0002g0119a0001c0002t0002g0101 | 3 | 280 | 0.0107 | 25 | c.-28 others(36): Show |
HK1 | ENSG00000156515.25 | transcript | ENST00000643399.2 | protein_coding | 2377 | chr10 | TogoVar | ||||||
HK1_chr10_69273496_69406882 | 69276118 | A | AAAAATAT others(18): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG01433.hp2 HG02698.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0018 | a0001c0001t0002a0001c0002t0002a0001c0018t0020 | a0001c0001t0002g0086a0001c0001t0002g0100a0001c0001t0002g0118others(2): Show | 5 | 280 | 0.0179 | 25 | c.-28 others(36): Show |
HK1 | ENSG00000156515.25 | transcript | ENST00000643399.2 | protein_coding | 2377 | chr10 | TogoVar | ||||||
HK1_chr10_69273496_69406882 | 69276118 | A | AAATATAT others(18): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 HG02083.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0096a0001c0002t0002g0109 | 2 | 280 | 0.0071 | 25 | c.-28 others(36): Show |
HK1 | ENSG00000156515.25 | transcript | ENST00000643399.2 | protein_coding | 2377 | chr10 | TogoVar | ||||||
HLA-DRA_chr6_32434887_32450046 | 32439070 | T | TAAAAAAA others(18): Show |
upstream_gene_variant | MODIFIER | HG02071.hp2 NA18747.hp1 NA19083.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0004 | a0002c0002t0002g0003a0002c0002t0002g0025a0002c0002t0004g0034 | 3 | 459 | 0.0065 | 25 | c.-88 others(34): Show |
HLA-DRA | ENSG00000204287.14 | transcript | ENST00000395388.7 | protein_coding | 816 | chr6 | TogoVar | ||||||
HLA-G_chr6_29822825_29836021 | 29823494 | A | AAAATTAA others(18): Show |
upstream_gene_variant | MODIFIER | HG02015.hp2 HG02056.hp2 HG02080.hp2 others(23): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 26 | 479 | 0.0543 | 25 | c.-43 others(36): Show |
HLA-G | ENSG00000204632.13 | transcript | ENST00000360323.11 | protein_coding | 4330 | chr6 | TogoVar | ||||||
HLA-G_chr6_29822825_29836021 | 29831449 | T | TTTTTTTT others(18): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 NA18946.hp2 NA18987.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 5 | 479 | 0.0104 | 25 | c.*71 others(34): Show |
HLA-G | ENSG00000204632.13 | transcript | ENST00000360323.11 | protein_coding | 429 | chr6 | TogoVar | ||||||
HLF_chr17_55259960_55330187 | 55318815 | G | GAACTGGA others(18): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179 | 1 | 408 | 0.0025 | 25 | c.673 others(42): Show |
HLF | ENSG00000108924.14 | transcript | ENST00000226067.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
HMCN2_chr9_130260760_130439123 | 130293279 | G | GTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01496.hp1 HG03195.hp1 NA18522.hp1 |
a0056a0142a0144 | a0056c0106a0142c0147a0144c0159 | a0056c0106t0001a0142c0147t0002a0144c0159t0002 | a0056c0106t0001g0069a0142c0147t0002g0157a0144c0159t0002g0242 | 3 | 258 | 0.0116 | 25 | c.613 others(42): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 4/97 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
HMCN2_chr9_130260760_130439123 | 130315214 | T | TCCCCTCC others(18): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0112 | a0112c0129 | a0112c0129t0001 | a0112c0129t0001g0044 | 1 | 258 | 0.0039 | 25 | c.235 others(44): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 15/97 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
HMGCLL1_chr6_55429373_55584192 | 55430430 | A | ATACAGGA others(18): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(323): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(319): Show | 326 | 334 | 0.9761 | 25 | c.*52 others(36): Show |
HMGCLL1 | ENSG00000146151.14 | transcript | ENST00000274901.9 | protein_coding | 3942 | chr6 | TogoVar | ||||||
HMGN1_chr21_39337315_39354088 | 39337382 | A | ATATATAT others(18): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0039 | 1 | 414 | 0.0024 | 25 | c.*57 others(36): Show |
HMGN1 | ENSG00000205581.11 | transcript | ENST00000380749.10 | protein_coding | 4932 | chr21 | TogoVar | ||||||
HMGN1_chr21_39337315_39354088 | 39337386 | A | ATATATAT others(18): Show |
downstream_gene_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 414 | 0.0024 | 25 | c.*57 others(36): Show |
HMGN1 | ENSG00000205581.11 | transcript | ENST00000380749.10 | protein_coding | 4928 | chr21 | TogoVar | ||||||
HMGN1_chr21_39337315_39354088 | 39345137 | A | ACACACAC others(18): Show |
splice_region_variant others(1): Show |
LOW | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0078 | 1 | 414 | 0.0024 | 25 | c.255 others(36): Show |
HMGN1 | ENSG00000205581.11 | transcript | ENST00000380749.10 | protein_coding | 5/5 | chr21 | TogoVar | ||||||
HMGN4_chr6_26533366_26551933 | 26543421 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 396 | 0.0025 | 25 | c.-80 others(42): Show |
HMGN4 | ENSG00000182952.5 | transcript | ENST00000377575.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
HMHB1_chr5_143807161_143825716 | 143820318 | T | TAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01346.hp2 NA20805.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0114a0002c0002t0001g0133 | 2 | 458 | 0.0044 | 25 | c.38- others(38): Show |
HMHB1 | ENSG00000158497.6 | transcript | ENST00000289448.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
HNF4A_chr20_44350699_44437845 | 44368160 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG04204.hp1 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0223a0001c0001t0003g0235 | 2 | 322 | 0.0062 | 25 | c.49+ others(42): Show |
HNF4A | ENSG00000101076.20 | transcript | ENST00000316673.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
HNF4A_chr20_44350699_44437845 | 44385059 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0165 | 1 | 322 | 0.0031 | 25 | c.50- others(42): Show |
HNF4A | ENSG00000101076.20 | transcript | ENST00000316673.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
HNF4A_chr20_44350699_44437845 | 44388383 | C | CCCCCCCC others(18): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0229 | 1 | 322 | 0.0031 | 25 | c.50- others(42): Show |
HNF4A | ENSG00000101076.20 | transcript | ENST00000316673.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
HNRNPAB_chr5_178199533_178216163 | 178203504 | T | TAAAAAAA others(18): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 NA18977.hp2 NA18994.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0002g0001a0001c0001t0002g0026others(1): Show | 4 | 462 | 0.0087 | 25 | c.-12 others(36): Show |
HNRNPAB | ENSG00000197451.12 | transcript | ENST00000358344.8 | protein_coding | 1028 | chr5 | TogoVar | ||||||
HNRNPH2_chrX_101403222_101419133 | 101407481 | A | AGAGAGAG others(18): Show |
upstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 | 1 | 308 | 0.0033 | 25 | c.-89 others(34): Show |
HNRNPH2 | ENSG00000126945.9 | transcript | ENST00000316594.6 | protein_coding | 740 | chrX | TogoVar | ||||||
HNRNPR_chr1_23299688_23349284 | 23321163 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02559.hp2 HG02572.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0016 | a0001c0001t0005g0046a0001c0001t0005g0052a0001c0001t0005g0053others(1): Show | 4 | 354 | 0.0113 | 25 | c.811 others(40): Show |
HNRNPR | ENSG00000125944.22 | transcript | ENST00000302271.11 | protein_coding | 7/10 | chr1 | TogoVar | ||||||
HNRNPR_chr1_23299688_23349284 | 23323296 | A | AAACTTCT others(18): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02896.hp1 HG02897.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0059a0001c0001t0009g0060a0001c0001t0009g0061others(3): Show | 6 | 354 | 0.0170 | 25 | c.675 others(40): Show |
HNRNPR | ENSG00000125944.22 | transcript | ENST00000302271.11 | protein_coding | 6/10 | chr1 | TogoVar | ||||||
HNRNPR_chr1_23299688_23349284 | 23336116 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0052 | 1 | 354 | 0.0028 | 25 | c.384 others(42): Show |
HNRNPR | ENSG00000125944.22 | transcript | ENST00000302271.11 | protein_coding | 4/10 | chr1 | TogoVar |