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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HABP4_chr9_96445169_96496336 | 96447324 | A | ACACACAC others(8): Show |
upstream_gene_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 306 | 0.0033 | 15 | c.-29 others(26): Show |
HABP4 | ENSG00000130956.14 | transcript | ENST00000375249.5 | protein_coding | 2844 | chr9 | TogoVar | |||||||
HABP4_chr9_96445169_96496336 | 96494823 | T | TCCCATCC others(8): Show |
downstream_gene_variant | MODIFIER | HG01952.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0057 a0001c0001t0003g0082 |
2 | 306 | 0.0065 | 15 | c.*47 others(26): Show |
HABP4 | ENSG00000130956.14 | transcript | ENST00000375249.5 | protein_coding | 3488 | chr9 | TogoVar | |||||||
HACD1_chr10_17584032_17622374 | 17591976 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03098.hp2 HG03490.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0006a0001c0005t0017 | a0001c0001t0006g0087 a0001c0001t0006g0108 a0001c0001t0006g0109 others(1): Show |
4 | 410 | 0.0098 | 15 | c.785 others(32): Show |
HACD1 | ENSG00000165996.14 | transcript | ENST00000361271.8 | protein_coding | 6/6 | chr10 | TogoVar | |||||||
HACD1_chr10_17584032_17622374 | 17609155 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0003 | a0002c0003t0012 | a0002c0003t0012g0084 | 1 | 410 | 0.0024 | 15 | c.258 others(32): Show |
HACD1 | ENSG00000165996.14 | transcript | ENST00000361271.8 | protein_coding | 1/6 | chr10 | TogoVar | |||||||
HACD2_chr3_123486554_123590053 | 123542146 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01433.hp2 NA20300.hp1 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0094 a0001c0002t0005g0095 |
2 | 350 | 0.0057 | 15 | c.293 others(34): Show |
HACD2 | ENSG00000206527.10 | transcript | ENST00000383657.10 | protein_coding | 3/6 | chr3 | TogoVar | |||||||
HACD2_chr3_123486554_123590053 | 123586441 | G | GCTGGGGC others(8): Show |
upstream_gene_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0275 | 1 | 350 | 0.0029 | 15 | c.-14 others(26): Show |
HACD2 | ENSG00000206527.10 | transcript | ENST00000383657.10 | protein_coding | 1389 | chr3 | TogoVar | |||||||
HACD3_chr15_65525463_65583349 | 65527131 | A | AAAAATAA others(8): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG01167.hp1 HG01169.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 others(19): Show |
22 | 328 | 0.0671 | 15 | c.-35 others(26): Show |
HACD3 | ENSG00000074696.13 | transcript | ENST00000261875.10 | protein_coding | 3331 | chr15 | TogoVar | |||||||
HACE1_chr6_104723094_104864919 | 104831918 | A | AAGAAGAG others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(50): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0242 others(50): Show |
53 | 346 | 0.1532 | 15 | c.534 others(32): Show |
HACE1 | ENSG00000085382.12 | transcript | ENST00000262903.9 | protein_coding | 6/23 | chr6 | TogoVar | |||||||
HADHB_chr2_26239939_26295465 | 26265597 | A | AAACAACA others(8): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0045 a0001c0003t0001g0052 |
2 | 290 | 0.0069 | 15 | c.209 others(32): Show |
HADHB | ENSG00000138029.14 | transcript | ENST00000317799.10 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HADHB_chr2_26239939_26295465 | 26266871 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02559.hp1 HG02717.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 others(2): Show |
5 | 290 | 0.0172 | 15 | c.210 others(32): Show |
HADHB | ENSG00000138029.14 | transcript | ENST00000317799.10 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HADHB_chr2_26239939_26295465 | 26285739 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 290 | 0.0035 | 15 | c.138 others(32): Show |
HADHB | ENSG00000138029.14 | transcript | ENST00000317799.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HADH_chr4_107984889_108040171 | 107996500 | A | AAAAATGG others(8): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03041.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0186 a0002c0002t0002g0193 |
2 | 304 | 0.0066 | 15 | c.132 others(32): Show |
HADH | ENSG00000138796.18 | transcript | ENST00000309522.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HAGH_chr16_1802629_1831825 | 1803541 | A | ATCTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0151 | 1 | 436 | 0.0023 | 15 | c.*57 others(26): Show |
HAGH | ENSG00000063854.13 | transcript | ENST00000397356.8 | protein_coding | 4087 | chr16 | TogoVar | |||||||
HAGH_chr16_1802629_1831825 | 1830944 | A | ACACACCC others(8): Show |
upstream_gene_variant | MODIFIER | HG03017.hp2 NA18939.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0005 | a0001c0001t0003g0009 a0001c0004t0005g0142 |
2 | 436 | 0.0046 | 15 | c.-41 others(26): Show |
HAGH | ENSG00000063854.13 | transcript | ENST00000397356.8 | protein_coding | 4120 | chr16 | TogoVar | |||||||
HAGH_chr16_1802629_1831825 | 1830945 | C | CACACACA others(8): Show |
upstream_gene_variant | MODIFIER | NA19055.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0020 | 1 | 436 | 0.0023 | 15 | c.-41 others(26): Show |
HAGH | ENSG00000063854.13 | transcript | ENST00000397356.8 | protein_coding | 4121 | chr16 | TogoVar | |||||||
HAL_chr12_95967662_96001344 | 95971936 | C | CTTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 HG01069.hp1 HG01071.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0015a0002c0004t0002a0002c0004t0003 | a0001c0001t0015g0067 a0002c0004t0002g0053 a0002c0004t0003g0008 others(6): Show |
17 | 418 | 0.0407 | 15 | c.*22 others(26): Show |
HAL | ENSG00000084110.11 | transcript | ENST00000261208.8 | protein_coding | 725 | chr12 | TogoVar | |||||||
HAO1_chr20_7877985_7945458 | 7924194 | G | GTGTTGTT others(8): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 348 | 0.0029 | 15 | c.290 others(32): Show |
HAO1 | ENSG00000101323.5 | transcript | ENST00000378789.4 | protein_coding | 2/7 | chr20 | TogoVar | |||||||
HAO1_chr20_7877985_7945458 | 7924194 | G | GTGTTTTT others(8): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG02895.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0009 a0001c0001t0001g0321 a0001c0001t0001g0322 others(4): Show |
8 | 348 | 0.0230 | 15 | c.290 others(32): Show |
HAO1 | ENSG00000101323.5 | transcript | ENST00000378789.4 | protein_coding | 2/7 | chr20 | TogoVar | |||||||
HAP1_chr17_41717640_41739643 | 41730031 | A | AAGAAGAG others(8): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02965.hp1 NA18989.hp2 others(1): Show |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0001a0007c0007t0002 | a0001c0001t0001g0216 a0001c0001t0001g0244 a0001c0001t0001g0348 others(1): Show |
4 | 374 | 0.0107 | 15 | c.106 others(34): Show |
HAP1 | ENSG00000173805.16 | transcript | ENST00000347901.9 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
HAP1_chr17_41717640_41739643 | 41730054 | A | AGAGAGAG others(8): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0025 | 1 | 374 | 0.0027 | 15 | c.106 others(34): Show |
HAP1 | ENSG00000173805.16 | transcript | ENST00000347901.9 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
HAP1_chr17_41717640_41739643 | 41737065 | G | GAGGGAGG others(8): Show |
upstream_gene_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 374 | 0.0027 | 15 | c.-24 others(26): Show |
HAP1 | ENSG00000173805.16 | transcript | ENST00000347901.9 | protein_coding | 2423 | chr17 | TogoVar | |||||||
HAPLN1_chr5_83632805_83725855 | 83645475 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01175.hp1 HG01255.hp1 others(32): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0040 a0001c0001t0003g0023 a0001c0001t0003g0039 others(32): Show |
35 | 372 | 0.0941 | 15 | c.473 others(30): Show |
HAPLN1 | ENSG00000145681.11 | transcript | ENST00000274341.9 | protein_coding | 3/4 | chr5 | TogoVar | |||||||
HAPLN2_chr1_156614415_156630725 | 156623033 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00609.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0021 others(7): Show |
30 | 418 | 0.0718 | 15 | c.-24 others(30): Show |
HAPLN2 | ENSG00000132702.13 | transcript | ENST00000255039.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HAS2_chr8_121607116_121646440 | 121642845 | T | TCCCACCG others(8): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0029 | a0001c0001t0026g0039 a0001c0001t0029g0066 |
2 | 376 | 0.0053 | 15 | c.-19 others(26): Show |
HAS2 | ENSG00000170961.7 | transcript | ENST00000303924.5 | protein_coding | 1406 | chr8 | TogoVar | |||||||
HAS2_chr8_121607116_121646440 | 121642852 | G | GCCCCCCC others(8): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 HG01109.hp1 HG01168.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0027a0001c0001t0034others(1): Show | a0001c0001t0003g0186 a0001c0001t0027g0059 a0001c0001t0034g0140 others(1): Show |
4 | 376 | 0.0106 | 15 | c.-20 others(26): Show |
HAS2 | ENSG00000170961.7 | transcript | ENST00000303924.5 | protein_coding | 1413 | chr8 | TogoVar | |||||||
HASPIN_chr17_3718903_3731699 | 3719234 | T | TAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 NA20129.hp2 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0000 | 2 | 414 | 0.0048 | 15 | c.-47 others(26): Show |
HASPIN | ENSG00000177602.5 | transcript | ENST00000325418.5 | protein_coding | 4668 | chr17 | TogoVar | |||||||
HAT1_chr2_171917461_171988686 | 171938075 | T | TCTCTCTC others(8): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 326 | 0.0031 | 15 | c.113 others(32): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
HAT1_chr2_171917461_171988686 | 171953626 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02647.hp2 HG02897.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 a0001c0001t0001g0201 a0001c0001t0001g0267 others(4): Show |
7 | 326 | 0.0215 | 15 | c.309 others(30): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171970496 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0313 | 1 | 326 | 0.0031 | 15 | c.823 others(32): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171977557 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 326 | 0.0031 | 15 | c.975 others(32): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171977557 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 326 | 0.0031 | 15 | c.975 others(32): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171977557 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG03209.hp2 NA19063.hp1 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0257 a0001c0001t0001g0258 |
3 | 326 | 0.0092 | 15 | c.975 others(32): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171977557 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 326 | 0.0031 | 15 | c.975 others(32): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171977558 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 326 | 0.0031 | 15 | c.975 others(32): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 9/10 | chr2 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42544836 | C | CTATATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG03195.hp1 HG03579.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0296 a0001c0002t0004g0300 |
2 | 350 | 0.0057 | 15 | c.-40 others(26): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 4001 | chr15 | TogoVar | |||||||
HAUS6_chr9_19048141_19107904 | 19092916 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00735.hp2 others(17): Show |
a0002 | a0002c0003 | a0002c0003t0005a0002c0003t0009 | a0002c0003t0005g0007 a0002c0003t0005g0330 a0002c0003t0005g0339 others(15): Show |
20 | 406 | 0.0493 | 15 | c.436 others(30): Show |
HAUS6 | ENSG00000147874.11 | transcript | ENST00000380502.8 | protein_coding | 4/16 | chr9 | TogoVar | |||||||
HAUS8_chr19_17044729_17080452 | 17055143 | A | AAAAATAT others(8): Show |
intron_variant | MODIFIER | HG00408.hp1 HG03927.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0307 a0001c0003t0002g0333 |
2 | 400 | 0.0050 | 15 | c.787 others(30): Show |
HAUS8 | ENSG00000131351.15 | transcript | ENST00000253669.10 | protein_coding | 9/10 | chr19 | TogoVar | |||||||
HAUS8_chr19_17044729_17080452 | 17055143 | A | AAATATAT others(8): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0318 | 1 | 400 | 0.0025 | 15 | c.787 others(30): Show |
HAUS8 | ENSG00000131351.15 | transcript | ENST00000253669.10 | protein_coding | 9/10 | chr19 | TogoVar | |||||||
HAVCR1_chr5_157024413_157064116 | 157044471 | G | GAAAAGAA others(8): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0339 | 1 | 352 | 0.0028 | 15 | c.782 others(32): Show |
HAVCR1 | ENSG00000113249.14 | transcript | ENST00000523175.6 | protein_coding | 5/8 | chr5 | TogoVar | |||||||
HAVCR1_chr5_157024413_157064116 | 157044586 | G | GGAAGAAA others(8): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0075 | 1 | 352 | 0.0028 | 15 | c.782 others(32): Show |
HAVCR1 | ENSG00000113249.14 | transcript | ENST00000523175.6 | protein_coding | 5/8 | chr5 | TogoVar | |||||||
HAVCR1_chr5_157024413_157064116 | 157044617 | G | GAAAGAAA others(8): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 352 | 0.0028 | 15 | c.782 others(32): Show |
HAVCR1 | ENSG00000113249.14 | transcript | ENST00000523175.6 | protein_coding | 5/8 | chr5 | TogoVar | |||||||
HAVCR2_chr5_157080832_157114044 | 157092878 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03453.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 a0001c0001t0001g0223 |
2 | 380 | 0.0053 | 15 | c.676 others(32): Show |
HAVCR2 | ENSG00000135077.10 | transcript | ENST00000307851.9 | protein_coding | 5/6 | chr5 | TogoVar | |||||||
HAX1_chr1_154267629_154280875 | 154267880 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 HG01243.hp1 HG01517.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0002t0001g0002 others(1): Show |
9 | 392 | 0.0230 | 15 | c.-48 others(26): Show |
HAX1 | ENSG00000143575.16 | transcript | ENST00000328703.12 | protein_coding | 4748 | chr1 | TogoVar | |||||||
HBM_chr16_160978_171764 | 164731 | C | CGGGGCGG others(8): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 370 | 0.0027 | 15 | c.-12 others(26): Show |
HBM | ENSG00000206177.7 | transcript | ENST00000356815.4 | protein_coding | 1246 | chr16 | TogoVar | |||||||
HBP1_chr7_107164003_107207522 | 107171071 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0139 | 1 | 368 | 0.0027 | 15 | c.-16 others(32): Show |
HBP1 | ENSG00000105856.14 | transcript | ENST00000222574.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HBP1_chr7_107164003_107207522 | 107171073 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 368 | 0.0027 | 15 | c.-16 others(32): Show |
HBP1 | ENSG00000105856.14 | transcript | ENST00000222574.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HBP1_chr7_107164003_107207522 | 107171073 | A | ATATATTT others(8): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 368 | 0.0027 | 15 | c.-16 others(32): Show |
HBP1 | ENSG00000105856.14 | transcript | ENST00000222574.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HBP1_chr7_107164003_107207522 | 107171073 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 368 | 0.0027 | 15 | c.-16 others(32): Show |
HBP1 | ENSG00000105856.14 | transcript | ENST00000222574.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HBS1L_chr6_134955378_135059822 | 135000222 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03209.hp2 NA19043.hp1 |
a0002 | a0002c0003 | a0002c0003t0013 | a0002c0003t0013g0067 a0002c0003t0013g0078 |
2 | 348 | 0.0058 | 15 | c.539 others(32): Show |
HBS1L | ENSG00000112339.15 | transcript | ENST00000367837.10 | protein_coding | 5/17 | chr6 | TogoVar | |||||||
HBS1L_chr6_134955378_135059822 | 135032934 | G | GAAAAAGG others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(193): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0009others(38): Show | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 others(174): Show |
196 | 348 | 0.5632 | 15 | c.430 others(32): Show |
HBS1L | ENSG00000112339.15 | transcript | ENST00000367837.10 | protein_coding | 4/17 | chr6 | TogoVar |