| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| VCX_chrX_7838171_7849143 | 7844201 | T | TGGTGTGA others(423): Show |
downstream_gene_variant | MODIFIER | NA18968.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 341 | 0.0029 | 430 | c.*18 others(439): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 59 | chrX | TogoVar | |||||||
| WDR70_chr5_37374318_37758435 | 37557901 | A | ATACTCTT others(423): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 242 | 0.0041 | 430 | c.917 others(449): Show |
WDR70 | ENSG00000082068.9 | transcript | ENST00000265107.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| ZNF365_chr10_62369369_62407450 | 62370782 | C | CATCATAT others(423): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0071 | 1 | 350 | 0.0029 | 430 | c.-36 others(441): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3586 | chr10 | TogoVar | |||||||
| ZNF365_chr10_62369369_62407450 | 62370782 | C | CATCATAT others(423): Show |
upstream_gene_variant | MODIFIER | HG03669.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0019 | 1 | 350 | 0.0029 | 430 | c.-36 others(441): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3586 | chr10 | TogoVar | |||||||
| ZNF365_chr10_62369369_62407450 | 62370782 | C | CATCATAT others(423): Show |
upstream_gene_variant | MODIFIER | NA18985.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012 | 1 | 350 | 0.0029 | 430 | c.-36 others(441): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3586 | chr10 | TogoVar | |||||||
| ZNF365_chr10_62369369_62407450 | 62370841 | C | CAGATATC others(423): Show |
upstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0137 | 1 | 350 | 0.0029 | 430 | c.-36 others(441): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3527 | chr10 | TogoVar | |||||||
| ABCB11_chr2_168915781_169036324 | 168975305 | A | ATAGATAA others(424): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0066 | a0001c0066t0004 | a0001c0066t0004g0279 | 1 | 306 | 0.0033 | 431 | c.130 others(450): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
| ABCC6_chr16_16144565_16228494 | 16172318 | T | TGGGATGG others(424): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0245 | 1 | 357 | 0.0028 | 431 | c.278 others(448): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | |||||||
| ABHD12B_chr14_50867053_50909970 | 50870994 | A | AGAGGAGA others(424): Show |
upstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 376 | 0.0027 | 431 | c.-11 others(442): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1058 | chr14 | TogoVar | |||||||
| ABR_chr17_998519_1184981 | 1035495 | C | CCCCCACC others(424): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 337 | 0.0030 | 431 | c.179 others(452): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
| ACKR2_chr3_42804445_42872286 | 42823978 | C | CAAAACCC others(424): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0064 | 1 | 342 | 0.0029 | 431 | c.-38 others(448): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| ADAMTSL5_chr19_1500022_1518019 | 1500849 | A | AGGGGAAG others(424): Show |
downstream_gene_variant | MODIFIER | NA19054.hp1 | a0017 | a0017c0021 | a0017c0021t0006 | a0017c0021t0006g0223 | 1 | 352 | 0.0028 | 431 | c.*51 others(442): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 4172 | chr19 | TogoVar | |||||||
| AHRR_chr5_316714_443285 | 344423 | A | ATGTGTGA others(424): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02683.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0137 a0001c0001t0003g0138 |
2 | 268 | 0.0075 | 431 | c.62+ others(444): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| AHRR_chr5_316714_443285 | 344666 | G | GTGTGTGT others(424): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0082 | 1 | 268 | 0.0037 | 431 | c.62+ others(444): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| AHRR_chr5_316714_443285 | 344764 | T | TGTGTGTG others(424): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02895.hp2 HG02897.hp1 others(2): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0013a0001c0001t0046others(1): Show | a0001c0001t0001g0253 a0001c0001t0001g0263 a0001c0001t0013g0254 others(2): Show |
5 | 268 | 0.0187 | 431 | c.62+ others(444): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| ANKLE2_chr12_132720503_132766832 | 132729596 | A | AAGGGGAG others(424): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0010 | a0010c0028 | a0010c0028t0008 | a0010c0028t0008g0012 | 1 | 350 | 0.0029 | 431 | c.248 others(446): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 11/12 | chr12 | TogoVar | |||||||
| AP3D1_chr19_2095988_2156566 | 2128791 | C | CGCTCCGA others(424): Show |
intron_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0300 | 1 | 406 | 0.0025 | 431 | c.806 others(446): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 8/31 | chr19 | TogoVar | |||||||
| ATF1_chr12_50759101_50826162 | 50823525 | A | ATATTATA others(424): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0332 | 1 | 382 | 0.0026 | 431 | c.*37 others(442): Show |
ATF1 | ENSG00000123268.9 | transcript | ENST00000262053.8 | protein_coding | 2364 | chr12 | TogoVar | |||||||
| BHLHA9_chr17_1265444_1276815 | 1276785 | T | TCAAAAAA others(424): Show |
downstream_gene_variant | MODIFIER | HG01515.hp1 NA18985.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0000 | 2 | 442 | 0.0045 | 431 | c.*55 others(442): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 4971 | chr17 | TogoVar | |||||||
| BHLHA9_chr17_1265444_1276815 | 1276785 | T | TCAAAAAA others(424): Show |
downstream_gene_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0000 | 1 | 442 | 0.0023 | 431 | c.*55 others(442): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 4971 | chr17 | TogoVar | |||||||
| CAMKK2_chr12_121232692_121301709 | 121255234 | T | TTATATAT others(424): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0215 | 1 | 330 | 0.0030 | 431 | c.907 others(446): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | |||||||
| CCDC163_chr1_45488866_45505073 | 45497643 | C | CGCCACCC others(424): Show |
intron_variant | MODIFIER | HG02074.hp1 NA18985.hp2 NA19012.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0006 | a0001c0001t0001g0079 a0001c0001t0001g0090 a0001c0001t0001g0091 others(1): Show |
4 | 408 | 0.0098 | 431 | c.178 others(446): Show |
CCDC163 | ENSG00000280670.3 | transcript | ENST00000629482.3 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
| CDC34_chr19_526760_547087 | 545099 | A | ATCCCTCC others(424): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 328 | 0.0031 | 431 | c.*35 others(442): Show |
CDC34 | ENSG00000099804.9 | transcript | ENST00000215574.9 | protein_coding | 3013 | chr19 | TogoVar | |||||||
| CDC34_chr19_526760_547087 | 545099 | A | ATCCCTCC others(424): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 2 | 328 | 0.0061 | 431 | c.*35 others(442): Show |
CDC34 | ENSG00000099804.9 | transcript | ENST00000215574.9 | protein_coding | 3013 | chr19 | TogoVar | |||||||
| CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(424): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 256 | 0.0039 | 431 | c.-45 others(452): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(424): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 256 | 0.0039 | 431 | c.-45 others(452): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(424): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0058 | 1 | 256 | 0.0039 | 431 | c.-45 others(452): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| CFAP157_chr9_127701988_127721002 | 127720831 | T | TTCCCCCT others(424): Show |
downstream_gene_variant | MODIFIER | HG01169.hp2 HG01175.hp2 HG01261.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0007 |
5 | 354 | 0.0141 | 431 | c.*69 others(442): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4830 | chr9 | TogoVar | |||||||
| CFAP157_chr9_127701988_127721002 | 127720831 | T | TTCCCCCT others(424): Show |
downstream_gene_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 | 1 | 354 | 0.0028 | 431 | c.*69 others(442): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4830 | chr9 | TogoVar | |||||||
| CLTCL1_chr22_19174473_19296719 | 19202415 | C | CACCTCCC others(424): Show |
intron_variant | MODIFIER | HG02738.hp1 NA20752.hp2 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0241 a0002c0001t0002g0245 |
2 | 346 | 0.0058 | 431 | c.360 others(448): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 22/32 | chr22 | TogoVar | |||||||
| COL18A1_chr21_45400165_45518720 | 45501787 | C | CAGCCGGT others(424): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0034 | a0001c0034t0001 | a0001c0034t0001g0073 | 1 | 292 | 0.0034 | 431 | c.268 others(450): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| COL18A1_chr21_45400165_45518720 | 45502111 | A | AGAAGGAC others(424): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0109 | 1 | 292 | 0.0034 | 431 | c.268 others(450): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| COMMD10_chr5_116080025_116298287 | 116158291 | C | CTCCGTCT others(424): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0262 | 1 | 350 | 0.0029 | 431 | c.510 others(450): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | chr5 | TogoVar | |||||||
| CSMD1_chr8_2930361_4999914 | 4174757 | T | TGAGGAAG others(424): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0006 | a0006c0067 | a0006c0067t0059 | a0006c0067t0059g0079 | 1 | 126 | 0.0079 | 431 | c.416 others(452): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
| CSMD1_chr8_2930361_4999914 | 4174757 | T | TGAGGAAG others(424): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0125 | 1 | 126 | 0.0079 | 431 | c.416 others(452): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
| DCDC2_chr6_24166755_24363059 | 24238179 | A | AGGGAGGA others(424): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0206 | 1 | 216 | 0.0046 | 431 | c.923 others(450): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
| DIP2C_chr10_269201_694668 | 478340 | A | AAGGGAGG others(424): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0054 | 1 | 88 | 0.0114 | 431 | c.158 others(448): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
| DPH1_chr17_2025153_2048898 | 2035402 | C | CGGTGGGG others(424): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0157 | 1 | 392 | 0.0026 | 431 | c.279 others(446): Show |
DPH1 | ENSG00000108963.19 | transcript | ENST00000263083.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| EEF1A2_chr20_63483014_63504083 | 63486886 | A | ACCTGCCC others(424): Show |
downstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 374 | 0.0027 | 431 | c.*14 others(442): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1127 | chr20 | TogoVar | |||||||
| EEF1A2_chr20_63483014_63504083 | 63492360 | G | GGATGGAT others(424): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0008 | a0008c0014 | a0008c0014t0001 | a0008c0014t0001g0190 | 1 | 374 | 0.0027 | 431 | c.772 others(446): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 5/7 | chr20 | TogoVar | |||||||
| EIPR1_chr2_3183970_3382818 | 3221594 | T | TCGGGAAC others(424): Show |
intron_variant | MODIFIER | HG02886.hp2 HG04115.hp2 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 a0001c0001t0003g0212 a0001c0001t0003g0247 |
3 | 250 | 0.0120 | 431 | c.417 others(448): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
| FTCD_chr21_46131779_46160579 | 46145758 | T | TCCCCCTC others(424): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0102 | 1 | 230 | 0.0044 | 431 | c.109 others(446): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 9/13 | chr21 | TogoVar | |||||||
| GAL3ST2_chr2_241771822_241809287 | 241807106 | C | CCCCCCTC others(424): Show |
downstream_gene_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 314 | 0.0032 | 431 | c.*29 others(442): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2820 | chr2 | TogoVar | |||||||
| GPBP1_chr5_57169059_57269673 | 57249840 | C | CCCGTCCT others(424): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0073 | 1 | 290 | 0.0035 | 431 | c.972 others(446): Show |
GPBP1 | ENSG00000062194.16 | transcript | ENST00000506184.7 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| GZMM_chr19_539053_554922 | 545099 | A | ATCCCTCC others(424): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03139.hp1 NA19240.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0146 a0001c0005t0001g0031 |
3 | 398 | 0.0075 | 431 | c.55+ others(444): Show |
GZMM | ENSG00000197540.8 | transcript | ENST00000264553.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| GZMM_chr19_539053_554922 | 545099 | A | ATCCCTCC others(424): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02615.hp2 NA20129.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0002 | a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0007t0002g0068 |
3 | 398 | 0.0075 | 431 | c.55+ others(444): Show |
GZMM | ENSG00000197540.8 | transcript | ENST00000264553.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| IFNAR1_chr21_33319970_33364864 | 33322909 | T | TGGAATAT others(424): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0004 | a0002c0004t0014 | a0002c0004t0014g0193 | 1 | 323 | 0.0031 | 431 | c.-21 others(442): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | |||||||
| KBTBD11_chr8_1968677_2011936 | 1969678 | T | TATAAATA others(424): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01109.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0056a0001c0001t0060 | a0001c0001t0009g0361 a0001c0001t0009g0362 a0001c0001t0009g0363 others(4): Show |
7 | 389 | 0.0180 | 431 | c.-51 others(442): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 3998 | chr8 | TogoVar | |||||||
| KCNH7_chr2_162366407_162843767 | 162752903 | A | AAAAAAGA others(424): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 100 | 0.0100 | 431 | c.307 others(450): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 2/15 | chr2 | TogoVar | |||||||
| KCNK2_chr1_215077737_215242090 | 215209560 | A | ATATATAT others(424): Show |
intron_variant | MODIFIER | NA18969.hp2 NA18991.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0038 | a0001c0001t0011g0208 a0001c0001t0038g0232 |
2 | 260 | 0.0077 | 431 | c.963 others(450): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |