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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FIG4_chr6_109686296_109830426 | 109781773 | C | CAGATTTT others(279): Show |
intron_variant | MODIFIER | HG02015.hp2 NA19084.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0037 a0001c0003t0001g0175 |
2 | 261 | 0.0077 | 286 | c.189 others(305): Show |
FIG4 | ENSG00000112367.12 | transcript | ENST00000230124.8 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FOXQ1_chr6_1307098_1319758 | 1317226 | C | CCTCCCCC others(279): Show |
downstream_gene_variant | MODIFIER | HG01361.hp2 HG02145.hp1 |
a0004 | a0004c0006a0004c0020 | a0004c0006t0001a0004c0020t0001 | a0004c0006t0001g0000 a0004c0020t0001g0000 |
2 | 115 | 0.0174 | 286 | c.*33 others(297): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 2469 | chr6 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241806645 | A | ACCCTCCC others(279): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0135 | 1 | 214 | 0.0047 | 286 | c.*24 others(297): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2359 | chr2 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113824036 | T | TGGTCTGG others(279): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0004 | a0004c0014 | a0004c0014t0003 | a0004c0014t0003g0002 | 1 | 121 | 0.0083 | 286 | c.147 others(303): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113824036 | T | TGGTCTGG others(279): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0125 | 1 | 121 | 0.0083 | 286 | c.147 others(303): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | |||||||
GK_chrX_30648423_30736462 | 30663964 | T | TATATATA others(279): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG01070.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0204 a0001c0001t0002g0199 a0001c0001t0002g0221 others(13): Show |
16 | 121 | 0.1322 | 286 | c.79- others(301): Show |
GK | ENSG00000198814.14 | transcript | ENST00000427190.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GK_chrX_30648423_30736462 | 30663964 | T | TATATATA others(279): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0225 | 1 | 106 | 0.0094 | 286 | c.79- others(301): Show |
GK | ENSG00000198814.14 | transcript | ENST00000427190.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GLIS3_chr9_3819127_4305068 | 3876693 | G | GGGAGGGG others(279): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0153 | 1 | 14 | 0.0714 | 286 | c.229 others(305): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 8/10 | chr9 | TogoVar | |||||||
GPHN_chr14_66503147_67186803 | 66683369 | T | TATATATA others(279): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 112 | 0.0089 | 286 | c.143 others(303): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 66703613 | G | GTTTGGAA others(279): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0137 | 1 | 102 | 0.0098 | 286 | c.143 others(305): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 2/22 | chr14 | TogoVar | |||||||
GPHN_chr14_66503147_67186803 | 66703613 | G | GTTTGGAA others(279): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(127): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0104 others(127): Show |
130 | 231 | 0.5628 | 286 | c.143 others(305): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 2/22 | chr14 | TogoVar | |||||||
GRID1_chr10_85594552_86371795 | 86121548 | T | TATCTCAC others(279): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0015 | 1 | 50 | 0.0200 | 286 | c.726 others(305): Show |
GRID1 | ENSG00000182771.19 | transcript | ENST00000327946.12 | protein_coding | 4/15 | chr10 | TogoVar | |||||||
GRK4_chr4_2958571_3045760 | 2961219 | T | TAGTAACT others(279): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 | a0005 | a0005c0005 | a0005c0005t0005 | a0005c0005t0005g0182 | 1 | 134 | 0.0075 | 286 | c.-28 others(297): Show |
GRK4 | ENSG00000125388.20 | transcript | ENST00000398052.9 | protein_coding | 2351 | chr4 | TogoVar | |||||||
GUCY1A2_chr11_106669019_107023476 | 106787587 | A | AGGAAGGG others(279): Show |
intron_variant | MODIFIER | HG01081.hp2 HG06807.hp2 NA18522.hp1 |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0009a0001c0003t0014 | a0001c0003t0003g0247 a0001c0003t0009g0251 a0001c0003t0014g0248 |
3 | 10 | 0.3000 | 286 | c.169 others(307): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 5/7 | chr11 | TogoVar | |||||||
GUCY1A2_chr11_106669019_107023476 | 106787587 | A | AGGAAGGG others(279): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0045 | 1 | 8 | 0.1250 | 286 | c.169 others(307): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 5/7 | chr11 | TogoVar | |||||||
HBQ1_chr16_175459_186179 | 182788 | G | GTGAAACA others(279): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 HG01106.hp1 HG02055.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 26 | 261 | 0.0996 | 286 | c.*16 others(297): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 1610 | chr16 | TogoVar | |||||||
HBQ1_chr16_175459_186179 | 182788 | G | GTGAAACA others(279): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 HG02809.hp1 HG02818.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 6 | 241 | 0.0249 | 286 | c.*16 others(297): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 1610 | chr16 | TogoVar | |||||||
HBQ1_chr16_175459_186179 | 182788 | G | GTGAAACA others(279): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp2 others(101): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 104 | 339 | 0.3068 | 286 | c.*16 others(297): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 1610 | chr16 | TogoVar | |||||||
HBQ1_chr16_175459_186179 | 182788 | G | GTGAAACA others(279): Show |
downstream_gene_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 236 | 0.0042 | 286 | c.*16 others(297): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 1610 | chr16 | TogoVar | |||||||
HBQ1_chr16_175459_186179 | 182788 | G | GTGAAACA others(279): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 238 | 0.0126 | 286 | c.*16 others(297): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 1610 | chr16 | TogoVar | |||||||
HIVEP1_chr6_12007312_12169999 | 12167688 | T | TATATACA others(279): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0020 | a0020c0026 | a0020c0026t0001 | a0020c0026t0001g0219 | 1 | 335 | 0.0030 | 286 | c.*32 others(297): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 2690 | chr6 | TogoVar | |||||||
HRH3_chr20_62209960_62225278 | 62213280 | G | GGGGAGGG others(279): Show |
downstream_gene_variant | MODIFIER | HG02004.hp1 HG03669.hp2 HG03834.hp2 others(2): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0001a0001c0006t0001 | a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0050 others(1): Show |
5 | 166 | 0.0301 | 286 | c.*27 others(297): Show |
HRH3 | ENSG00000101180.17 | transcript | ENST00000340177.10 | protein_coding | 1679 | chr20 | TogoVar | |||||||
HTR2B_chr2_231103230_231130042 | 231118124 | T | TAATAGTA others(279): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03195.hp1 HG03540.hp1 |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0001a0005c0005t0001 | a0002c0002t0001g0027 a0005c0005t0001g0125 |
3 | 407 | 0.0074 | 286 | c.353 others(303): Show |
HTR2B | ENSG00000135914.6 | transcript | ENST00000258400.4 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
HTR2C_chrX_114579086_114915061 | 114761978 | C | CACGTATA others(279): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 1 | 173 | 0.0058 | 286 | c.349 others(305): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | chrX | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322870 | T | TATGGAAT others(279): Show |
upstream_gene_variant | MODIFIER | NA18747.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0009 | 1 | 226 | 0.0044 | 286 | c.-21 others(297): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2099 | chr21 | TogoVar | |||||||
IL17RA_chr22_17080000_17120693 | 17104113 | A | AGTGTGGT others(279): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0004 | a0004c0004 | a0004c0004t0016 | a0004c0004t0016g0309 | 1 | 395 | 0.0025 | 286 | c.846 others(301): Show |
IL17RA | ENSG00000177663.15 | transcript | ENST00000319363.11 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
IL18R1_chr2_102350796_102403776 | 102352768 | T | TATAATAT others(279): Show |
upstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0089 | 1 | 4 | 0.2500 | 286 | c.-36 others(297): Show |
IL18R1 | ENSG00000115604.12 | transcript | ENST00000233957.7 | protein_coding | 3027 | chr2 | TogoVar | |||||||
IL1RL1_chr2_102306563_102357037 | 102352768 | T | TATAATAT others(279): Show |
downstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 2 | 0.5000 | 286 | c.*84 others(295): Show |
IL1RL1 | ENSG00000115602.17 | transcript | ENST00000233954.6 | protein_coding | 732 | chr2 | TogoVar | |||||||
INO80_chr15_40973880_41121280 | 41031612 | A | AGGGAGGG others(279): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0008 | 1 | 173 | 0.0058 | 286 | c.290 others(305): Show |
INO80 | ENSG00000128908.19 | transcript | ENST00000648947.1 | protein_coding | 24/35 | chr15 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50086190 | T | TTATATAT others(279): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0246 | 1 | 24 | 0.0417 | 286 | c.292 others(305): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50086190 | T | TTATATAT others(279): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01081.hp2 HG01256.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 a0001c0001t0002g0059 a0001c0001t0002g0291 others(5): Show |
10 | 33 | 0.3030 | 286 | c.292 others(305): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50086190 | T | TTATATAT others(279): Show |
intron_variant | MODIFIER | HG02040.hp1 NA18941.hp1 NA18942.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 others(7): Show |
10 | 33 | 0.3030 | 286 | c.292 others(305): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
IZUMO3_chr9_24537952_24550897 | 24546511 | T | TCTTTTCT others(279): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 322 | 0.0031 | 286 | c.-86 others(295): Show |
IZUMO3 | ENSG00000205442.13 | transcript | ENST00000543880.7 | protein_coding | 615 | chr9 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21346215 | T | TTATATAT others(279): Show |
intron_variant | MODIFIER | HG02897.hp2 HG03098.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0004t0004 | a0001c0001t0005g0072 a0001c0004t0004g0058 |
2 | 5 | 0.4000 | 286 | c.62- others(305): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNK10_chr14_88175108_88328269 | 88310155 | C | CATATACC others(279): Show |
intron_variant | MODIFIER | HG02273.hp2 HG03831.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0093 a0001c0003t0003g0032 |
2 | 258 | 0.0078 | 286 | c.52+ others(303): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
KCNK10_chr14_88175108_88328269 | 88310155 | C | CATATACC others(279): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01106.hp1 HG02273.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(4): Show | a0001c0001t0001g0086 a0001c0001t0005g0047 a0001c0001t0005g0080 others(8): Show |
11 | 267 | 0.0412 | 286 | c.52+ others(303): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
KCNK10_chr14_88175108_88328269 | 88310155 | C | CATATACC others(279): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0003 | a0001c0003t0016 | a0001c0003t0016g0054 | 1 | 257 | 0.0039 | 286 | c.52+ others(303): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
KCNK10_chr14_88175108_88328269 | 88310155 | C | CATATACC others(279): Show |
intron_variant | MODIFIER | HG02132.hp1 NA18944.hp1 NA19064.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0014a0001c0001t0029a0001c0003t0003 | a0001c0001t0014g0064 a0001c0001t0029g0110 a0001c0003t0003g0020 others(1): Show |
4 | 260 | 0.0154 | 286 | c.52+ others(303): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
KCNK10_chr14_88175108_88328269 | 88310155 | C | CATATACC others(279): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0067 | 1 | 257 | 0.0039 | 286 | c.52+ others(303): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
KCNK10_chr14_88175108_88328269 | 88310155 | C | CATATACC others(279): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0057 | 1 | 257 | 0.0039 | 286 | c.52+ others(303): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
KCNK10_chr14_88175108_88328269 | 88310155 | C | CATATACC others(279): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0099 | 1 | 257 | 0.0039 | 286 | c.52+ others(303): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
KCNK10_chr14_88175108_88328269 | 88310155 | C | CATATACC others(279): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0003 | a0001c0003t0015 | a0001c0003t0015g0056 | 1 | 257 | 0.0039 | 286 | c.52+ others(303): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
KCNK10_chr14_88175108_88328269 | 88310155 | C | CATATACC others(279): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0005 | a0001c0005t0078 | a0001c0005t0078g0058 | 1 | 257 | 0.0039 | 286 | c.52+ others(303): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
KCNK2_chr1_215077737_215242090 | 215209596 | T | TAATATAT others(279): Show |
intron_variant | MODIFIER | HG00544.hp1 HG04228.hp1 NA18941.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0003t0003a0001c0003t0018others(1): Show | a0001c0001t0007g0092 a0001c0003t0003g0004 a0001c0003t0003g0005 others(8): Show |
11 | 168 | 0.0655 | 286 | c.963 others(305): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178758039 | T | TATATATA others(279): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0073 | 1 | 150 | 0.0067 | 286 | c.-67 others(305): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758165 | G | GATATATA others(279): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0132 | 1 | 63 | 0.0159 | 286 | c.-67 others(305): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758172 | A | ATATATAT others(279): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0208 | 1 | 231 | 0.0043 | 286 | c.-67 others(305): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB4_chr12_70361290_70439292 | 70395138 | T | TCCAGTAG others(279): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00741.hp1 HG01074.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0056 a0001c0001t0001g0257 a0001c0001t0001g0258 others(25): Show |
28 | 367 | 0.0763 | 286 | c.337 others(303): Show |
KCNMB4 | ENSG00000135643.5 | transcript | ENST00000258111.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
KCNT2_chr1_196220779_196613440 | 196437094 | T | TATATACA others(279): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02630.hp2 HG03516.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0074 others(1): Show |
4 | 93 | 0.0430 | 286 | c.639 others(303): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | TogoVar | |||||||
KDM4B_chr19_4964113_5158598 | 5131538 | A | AGGGGCAG others(279): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0014 | a0014c0019 | a0014c0019t0020 | a0014c0019t0020g0147 | 1 | 237 | 0.0042 | 286 | c.178 others(303): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |