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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IPO7_chr11_9379652_9453127 | 9397341 | A | AAAAAAAT others(30): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0312 |
2 | 26 | 0.0769 | 37 | c.85- others(52): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
IQANK1_chr8_143729139_143795645 | 143747977 | T | TCCCTTTC others(30): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0010 | a0010c0011 | a0010c0011t0001 | a0010c0011t0001g0011 | 1 | 339 | 0.0029 | 37 | c.175 others(54): Show |
IQANK1 | ENSG00000203499.12 | transcript | ENST00000527139.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
IQCK_chr16_19713271_19863467 | 19717369 | G | GGAGAGCC others(30): Show |
upstream_gene_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0076 | 1 | 242 | 0.0041 | 37 | c.-93 others(46): Show |
IQCK | ENSG00000174628.17 | transcript | ENST00000695302.1 | protein_coding | 901 | chr16 | TogoVar | |||||||
IQCK_chr16_19713271_19863467 | 19798421 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0044 | 1 | 161 | 0.0062 | 37 | c.690 others(54): Show |
IQCK | ENSG00000174628.17 | transcript | ENST00000695302.1 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
IQCM_chr4_149346709_149820843 | 149481701 | G | GTTTTTTT others(30): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 116 | 0.0086 | 37 | c.122 others(58): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 12/13 | chr4 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 103580 | G | GGAGTTCG others(30): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0006 | a0006c0031 | a0006c0031t0001 | a0006c0031t0001g0057 | 1 | 280 | 0.0036 | 37 | c.623 others(54): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 103637 | C | CAGGGCTC others(30): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0202 | 1 | 278 | 0.0036 | 37 | c.623 others(54): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | chr12 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 103637 | C | CAGGGCTC others(30): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0002 | a0002c0009 | a0002c0009t0002 | a0002c0009t0002g0215 | 1 | 278 | 0.0036 | 37 | c.623 others(54): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | chr12 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 103824 | A | AGGGCTCA others(30): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01952.hp1 HG02486.hp2 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0041a0002c0001a0003c0005others(2): Show | a0001c0041t0051a0002c0001t0001a0002c0001t0004others(4): Show | a0001c0041t0051g0072 a0002c0001t0001g0193 a0002c0001t0004g0089 others(5): Show |
8 | 269 | 0.0297 | 37 | c.623 others(54): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IRAG1_chr11_10568095_10698755 | 10680404 | G | GGAAGGAA others(30): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0017 | a0017c0025 | a0017c0025t0003 | a0017c0025t0003g0083 | 1 | 21 | 0.0476 | 37 | c.67+ others(54): Show |
IRAG1 | ENSG00000072952.21 | transcript | ENST00000423302.7 | protein_coding | 1/20 | chr11 | TogoVar | |||||||
IRAG2_chr12_25047706_25113335 | 25108825 | T | TAAAAAAA others(30): Show |
downstream_gene_variant | MODIFIER | HG01981.hp2 HG02293.hp1 |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0005 | a0003c0003t0002g0261 a0003c0003t0005g0032 |
2 | 3 | 0.6667 | 37 | c.*76 others(46): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 491 | chr12 | TogoVar | |||||||
IRAK1BP1_chr6_78862551_78908102 | 78897960 | G | GCGGTTGT others(30): Show |
splice_donor_variant others(1): Show |
HIGH | HG02602.hp1 | a0001 | a0001c0002 | a0001c0002t0101 | a0001c0002t0101g0270 | 1 | 344 | 0.0029 | 37 | c.512 others(48): Show |
IRAK1BP1 | ENSG00000146243.14 | transcript | ENST00000369940.7 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
IRF3_chr19_49654572_49670857 | 49660028 | C | CACACACA others(30): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0018 | 1 | 263 | 0.0038 | 37 | c.109 others(54): Show |
IRF3 | ENSG00000126456.16 | transcript | ENST00000377139.8 | protein_coding | 7/7 | chr19 | TogoVar | |||||||
ITGA10_chr1_145886208_145915050 | 145909445 | C | CTATATAA others(30): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 386 | 0.0026 | 37 | c.52+ others(50): Show |
ITGA10 | ENSG00000143127.13 | transcript | ENST00000369304.8 | protein_coding | 1/29 | chr1 | TogoVar | |||||||
ITGA11_chr15_68291532_68437163 | 68400728 | A | AAATATTA others(30): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00735.hp1 HG01106.hp1 others(10): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0005a0002c0030others(7): Show | a0001c0002t0001a0001c0005t0005a0002c0030t0016others(7): Show | a0001c0002t0001g0071 a0001c0002t0001g0207 a0001c0002t0001g0218 others(10): Show |
13 | 144 | 0.0903 | 37 | c.164 others(54): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | |||||||
ITGA4_chr2_181452386_181543940 | 181536104 | G | GAATATTA others(30): Show |
3_prime_UTR_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0321 | 1 | 366 | 0.0027 | 37 | c.*57 others(46): Show |
ITGA4 | ENSG00000115232.14 | transcript | ENST00000397033.7 | protein_coding | 28/28 | 615 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ITIH5_chr10_7554270_7671966 | 7565081 | T | TACATATA others(30): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0003 | a0003c0055 | a0003c0055t0040 | a0003c0055t0040g0006 | 1 | 339 | 0.0029 | 37 | c.252 others(54): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 13/13 | chr10 | TogoVar | |||||||
ITPR1_chr3_4488348_4852506 | 4807110 | G | GCTTACAA others(30): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0095 | a0001c0095t0001 | a0001c0095t0001g0013 | 1 | 109 | 0.0092 | 37 | c.727 others(54): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
JAKMIP2_chr5_147580438_147787728 | 147742155 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | NA19078.hp2 NA19090.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0005a0001c0003t0026 | a0001c0002t0005g0204 a0001c0003t0026g0174 |
2 | 110 | 0.0182 | 37 | c.-14 others(58): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 1/21 | chr5 | TogoVar | |||||||
JAKMIP2_chr5_147580438_147787728 | 147742156 | T | TATATATA others(30): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0055 | a0001c0002t0055g0080 | 1 | 247 | 0.0040 | 37 | c.-14 others(58): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 1/21 | chr5 | TogoVar | |||||||
JAM2_chr21_25634258_25722562 | 25643903 | C | CAATTATA others(30): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 326 | 0.0031 | 37 | c.67+ others(52): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 1/9 | chr21 | TogoVar | |||||||
JAM2_chr21_25634258_25722562 | 25660782 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0132 | 1 | 144 | 0.0069 | 37 | c.67+ others(54): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
JAM2_chr21_25634258_25722562 | 25660782 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0308 | 1 | 144 | 0.0069 | 37 | c.67+ others(54): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
JAM2_chr21_25634258_25722562 | 25660782 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0116 | 1 | 144 | 0.0069 | 37 | c.67+ others(54): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
JARID2_chr6_15241069_15527042 | 15486806 | C | CTTTTTTT others(30): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0052 | 1 | 72 | 0.0139 | 37 | c.671 others(52): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63423049 | T | TCCCCTGT others(30): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0170 | 1 | 308 | 0.0032 | 37 | c.168 others(56): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 1/25 | chr10 | TogoVar | |||||||
JPH2_chr20_44101590_44192188 | 44134325 | A | AATAAATA others(30): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02698.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0037 | a0001c0001t0002g0070 a0001c0001t0037g0278 |
2 | 259 | 0.0077 | 37 | c.117 others(58): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
JUP_chr17_41749609_41791711 | 41784449 | C | CCTAGCAG others(30): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0329 | 1 | 410 | 0.0024 | 37 | c.-9+ others(52): Show |
JUP | ENSG00000173801.17 | transcript | ENST00000393931.8 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
KARS1_chr16_75622724_75652665 | 75624133 | A | ATATATAT others(30): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 71 | 0.0141 | 37 | c.*37 others(48): Show |
KARS1 | ENSG00000065427.15 | transcript | ENST00000302445.8 | protein_coding | 3590 | chr16 | TogoVar | |||||||
KARS1_chr16_75622724_75652665 | 75624133 | A | ATATATAT others(30): Show |
downstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 a0001c0001t0001g0245 |
2 | 72 | 0.0278 | 37 | c.*37 others(48): Show |
KARS1 | ENSG00000065427.15 | transcript | ENST00000302445.8 | protein_coding | 3590 | chr16 | TogoVar | |||||||
KARS1_chr16_75622724_75652665 | 75624134 | T | TATATATA others(30): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 355 | 0.0028 | 37 | c.*37 others(48): Show |
KARS1 | ENSG00000065427.15 | transcript | ENST00000302445.8 | protein_coding | 3589 | chr16 | TogoVar | |||||||
KAT2B_chr3_20035446_20159404 | 20149495 | C | CAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 | 1 | 45 | 0.0222 | 37 | c.230 others(56): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KATNIP_chr16_27545144_27785344 | 27553981 | A | AGAGAGGA others(30): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 150 | 0.0067 | 37 | c.7+3 others(50): Show |
KATNIP | ENSG00000047578.14 | transcript | ENST00000261588.10 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
KATNIP_chr16_27545144_27785344 | 27713841 | T | TACACATA others(30): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0028 | a0002c0028t0003 | a0002c0028t0003g0101 | 1 | 147 | 0.0068 | 37 | c.160 others(56): Show |
KATNIP | ENSG00000047578.14 | transcript | ENST00000261588.10 | protein_coding | 13/27 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14695510 | C | CTTTTTTT others(30): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 1 | 64 | 0.0156 | 37 | c.226 others(56): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14883341 | A | AGAGAGAG others(30): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0027 | 1 | 132 | 0.0076 | 37 | c.227 others(56): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14883342 | G | GAGAGAGA others(30): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02647.hp2 |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0003a0002c0006t0006 | a0001c0001t0003g0136 a0002c0006t0006g0036 |
2 | 135 | 0.0148 | 37 | c.227 others(56): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14883355 | A | AGGGAGGG others(30): Show |
intron_variant | MODIFIER | HG01106.hp1 HG04199.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0010 a0002c0002t0001g0039 |
2 | 41 | 0.0488 | 37 | c.227 others(56): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | chr1 | TogoVar | |||||||
KCNC2_chr12_75035078_75214839 | 75070395 | G | GAGCCGAG others(30): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02622.hp1 HG02976.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0010a0001c0001t0019others(1): Show | a0001c0001t0001g0025 a0001c0001t0001g0073 a0001c0001t0010g0091 others(4): Show |
7 | 314 | 0.0223 | 37 | c.688 others(56): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
KCNG3_chr2_42437017_42498982 | 42441732 | C | CTATATAT others(30): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp2 others(131): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0058 a0001c0001t0001g0090 a0001c0001t0001g0128 others(130): Show |
134 | 209 | 0.6411 | 37 | c.*22 others(48): Show |
KCNG3 | ENSG00000171126.8 | transcript | ENST00000306078.2 | protein_coding | 284 | chr2 | TogoVar | |||||||
KCNH5_chr14_62694464_63050458 | 62853458 | T | TATATATA others(30): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG01433.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(1): Show | a0001c0001t0001g0061 a0001c0001t0002g0209 a0001c0001t0014g0025 others(1): Show |
4 | 157 | 0.0255 | 37 | c.137 others(56): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 7/10 | chr14 | TogoVar | |||||||
KCNH5_chr14_62694464_63050458 | 62913467 | C | CCACCTGC others(30): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0003 | a0001c0003t0047 | a0001c0003t0047g0173 | 1 | 222 | 0.0045 | 37 | c.136 others(58): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 7/10 | chr14 | TogoVar | |||||||
KCNJ10_chr1_160032467_160075160 | 160049677 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0194 | 1 | 382 | 0.0026 | 37 | c.1-7 others(50): Show |
KCNJ10 | ENSG00000177807.10 | transcript | ENST00000644903.1 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868600 | A | ATATATTG others(30): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG01123.hp2 HG01255.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008 | a0001c0001t0001g0016 a0001c0001t0001g0032 a0001c0001t0001g0033 others(10): Show |
17 | 78 | 0.2179 | 37 | c.-16 others(48): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 1305 | chr11 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868635 | A | ATATATTA others(30): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG01261.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0014 |
5 | 65 | 0.0769 | 37 | c.-16 others(48): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 1340 | chr11 | TogoVar | |||||||
KCNK13_chr14_90056994_90190853 | 90143171 | C | CTTTCTTT others(30): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00642.hp2 HG00741.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0003c0003t0001 | a0001c0001t0001g0024 a0001c0001t0001g0043 a0001c0001t0001g0044 others(5): Show |
8 | 163 | 0.0491 | 37 | c.335 others(56): Show |
KCNK13 | ENSG00000152315.5 | transcript | ENST00000282146.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215209743 | T | TAAAATAT others(30): Show |
intron_variant | MODIFIER | HG01123.hp2 NA18968.hp2 |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0036 | a0001c0001t0027g0085 a0001c0001t0036g0239 |
2 | 195 | 0.0103 | 37 | c.963 others(56): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215230559 | C | CATATATA others(30): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG01891.hp1 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0037a0001c0001t0065 | a0001c0001t0024g0124 a0001c0001t0037g0133 a0001c0001t0065g0097 |
3 | 107 | 0.0280 | 37 | c.964 others(54): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215230559 | C | CATATATA others(30): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0051 | a0001c0001t0013g0129 a0001c0001t0051g0125 |
2 | 106 | 0.0189 | 37 | c.964 others(54): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNMB1_chr5_170369671_170394367 | 170390517 | A | AAAAAAAA others(30): Show |
upstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 222 | 0.0045 | 37 | c.-12 others(48): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1151 | chr5 | TogoVar |