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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNJ3_chr2_154693695_154863354 | 154838703 | GTAACATT others(8): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02074.hp2 HG02523.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(6): Show | a0001c0001t0004g0269 a0001c0001t0006g0001 a0001c0001t0009g0229 others(12): Show |
15 | 284 | 0.0528 | -15 | c.920 others(34): Show |
KCNJ3 | ENSG00000162989.5 | transcript | ENST00000295101.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNJ3_chr2_154693695_154863354 | 154857886 | CAAAAAAA others(8): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00639.hp2 HG01074.hp1 HG01081.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0001t0024a0001c0001t0049others(1): Show | a0001c0001t0011g0103 a0001c0001t0011g0113 a0001c0001t0011g0132 others(11): Show |
14 | 284 | 0.0493 | -15 | c.*26 others(26): Show |
KCNJ3 | ENSG00000162989.5 | transcript | ENST00000295101.3 | protein_coding | 3/3 | 2600 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KCNJ5_chr11_128886356_128926163 | 128917590 | GTGTTTTG others(8): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02602.hp1 HG02886.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0043a0001c0001t0048 | a0001c0001t0043g0248 a0001c0001t0043g0280 a0001c0001t0048g0188 others(1): Show |
4 | 460 | 0.0087 | -15 | c.*89 others(24): Show |
KCNJ5 | ENSG00000120457.12 | transcript | ENST00000529694.6 | protein_coding | 3/3 | 891 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KCNJ5_chr11_128886356_128926163 | 128925792 | ACGCCTGT others(8): Show |
A | downstream_gene_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0274 | a0001c0001t0274g0075 | 1 | 460 | 0.0022 | -15 | c.*90 others(26): Show |
KCNJ5 | ENSG00000120457.12 | transcript | ENST00000529694.6 | protein_coding | 4630 | chr11 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37667613 | TGGGGTAG others(8): Show |
T | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0002 | a0002c0005 | a0002c0005t0170a0002c0005t0171 | a0002c0005t0170g0136 a0002c0005t0171g0135 |
2 | 198 | 0.0101 | -15 | c.947 others(34): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37745072 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01167.hp1 HG01243.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0001t0013a0001c0001t0020others(13): Show | a0001c0001t0012g0159 a0001c0001t0013g0167 a0001c0001t0020g0023 others(13): Show |
16 | 198 | 0.0808 | -15 | c.26- others(32): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
KCNJ9_chr1_160076538_160095563 | 160077926 | CTTTTTTT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0040 | 1 | 430 | 0.0023 | -15 | c.-38 others(26): Show |
KCNJ9 | ENSG00000162728.5 | transcript | ENST00000368088.4 | protein_coding | 3611 | chr1 | TogoVar | |||||||
KCNK10_chr14_88175108_88328269 | 88197572 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0013 | a0001c0013t0110 | a0001c0013t0110g0036 | 1 | 334 | 0.0030 | -15 | c.682 others(32): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 4/6 | chr14 | TogoVar | |||||||
KCNK10_chr14_88175108_88328269 | 88220416 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG02922.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0052a0001c0002t0003 | a0001c0001t0052g0002 a0001c0002t0003g0050 |
2 | 334 | 0.0060 | -15 | c.681 others(32): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 4/6 | chr14 | TogoVar | |||||||
KCNK12_chr2_47504290_47575985 | 47507077 | CTCTCTCT others(8): Show |
C | downstream_gene_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0024 | 1 | 388 | 0.0026 | -15 | c.*13 others(28): Show |
KCNK12 | ENSG00000184261.5 | transcript | ENST00000327876.5 | protein_coding | 2212 | chr2 | TogoVar | |||||||
KCNK12_chr2_47504290_47575985 | 47574859 | CAAAAAAA others(8): Show |
C | upstream_gene_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0341 | 1 | 388 | 0.0026 | -15 | c.-45 others(26): Show |
KCNK12 | ENSG00000184261.5 | transcript | ENST00000327876.5 | protein_coding | 3875 | chr2 | TogoVar | |||||||
KCNK13_chr14_90056994_90190853 | 90126432 | TGTGACGT others(8): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02451.hp1 HG02717.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0003c0003t0003 | a0001c0001t0003g0150 a0001c0001t0003g0167 a0003c0003t0003g0315 others(1): Show |
4 | 320 | 0.0125 | -15 | c.335 others(34): Show |
KCNK13 | ENSG00000152315.5 | transcript | ENST00000282146.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KCNK15_chr20_44740865_44757313 | 44745379 | AAGGGACG others(8): Show |
A | upstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 422 | 0.0024 | -15 | c.-53 others(24): Show |
KCNK15 | ENSG00000124249.7 | transcript | ENST00000372861.5 | protein_coding | 485 | chr20 | TogoVar | |||||||
KCNK18_chr10_117192489_117215299 | 117204272 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 430 | 0.0023 | -15 | c.352 others(32): Show |
KCNK18 | ENSG00000186795.1 | transcript | ENST00000334549.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KCNK4_chr11_64286302_64305031 | 64302386 | TTCTCCTG others(8): Show |
T | downstream_gene_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0096 | 1 | 406 | 0.0025 | -15 | c.*26 others(26): Show |
KCNK4 | ENSG00000182450.14 | transcript | ENST00000422670.7 | protein_coding | 2356 | chr11 | TogoVar | |||||||
KCNK5_chr6_39183971_39234475 | 39232100 | GCTTCCCC others(8): Show |
G | upstream_gene_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0140 | 1 | 424 | 0.0024 | -15 | c.-30 others(26): Show |
KCNK5 | ENSG00000164626.9 | transcript | ENST00000359534.4 | protein_coding | 2626 | chr6 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77000858 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG02056.hp2 HG02165.hp1 HG02738.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0002g0042 a0001c0001t0002g0048 a0001c0001t0004g0103 others(3): Show |
6 | 106 | 0.0566 | -15 | c.226 others(32): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 19/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77081994 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085 | 1 | 106 | 0.0094 | -15 | c.152 others(34): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 12/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77123179 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG01081.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0043 a0001c0001t0002g0012 a0001c0001t0003g0054 others(9): Show |
12 | 106 | 0.1132 | -15 | c.809 others(32): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 5/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77431681 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG01081.hp1 HG01099.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0022 a0001c0001t0001g0043 a0001c0001t0001g0060 others(15): Show |
18 | 106 | 0.1698 | -15 | c.379 others(34): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 1/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77439087 | AAAGAGAA others(8): Show |
A | intron_variant | MODIFIER | HG02922.hp1 NA18906.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0003a0001c0004t0003 | a0001c0003t0003g0024 a0001c0004t0003g0021 |
2 | 106 | 0.0189 | -15 | c.379 others(34): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 1/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77446073 | ATCCCTGA others(8): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 106 | 0.0094 | -15 | c.379 others(34): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 1/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77520024 | ATGCAGTG others(8): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00597.hp2 others(65): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0027 others(65): Show |
68 | 106 | 0.6415 | -15 | c.379 others(36): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 1/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77572566 | ATCCATAT others(8): Show |
A | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0050 | 1 | 106 | 0.0094 | -15 | c.378 others(34): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 1/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77573608 | AAATGGAA others(8): Show |
A | intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0006 | 1 | 106 | 0.0094 | -15 | c.378 others(34): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 1/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77573632 | GGAATGGA others(8): Show |
G | intron_variant | MODIFIER | HG02056.hp2 HG03704.hp2 NA19010.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0002a0001c0002t0003 | a0001c0001t0004g0097 a0001c0002t0002g0076 a0001c0002t0003g0057 |
3 | 106 | 0.0283 | -15 | c.378 others(34): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 1/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77573637 | GGAATGGA others(8): Show |
G | intron_variant | MODIFIER | HG01928.hp2 HG02165.hp2 NA19010.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0007a0001c0002t0002others(1): Show | a0001c0001t0003g0039 a0001c0001t0007g0087 a0001c0002t0002g0005 others(1): Show |
4 | 106 | 0.0377 | -15 | c.378 others(34): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 1/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77573642 | GGAATAGA others(8): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG03017.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002a0001c0002t0003others(2): Show | a0001c0001t0002g0017 a0001c0001t0002g0081 a0001c0002t0002g0020 others(3): Show |
6 | 106 | 0.0566 | -15 | c.378 others(34): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 1/27 | chr10 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178568739 | AAGATGAT others(8): Show |
A | intron_variant | MODIFIER | HG02818.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0164 a0001c0001t0003g0204 |
2 | 232 | 0.0086 | -15 | c.-68 others(34): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178568801 | AGATAGAT others(8): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG01069.hp1 HG01109.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0105 a0001c0001t0002g0012 a0001c0001t0002g0094 others(29): Show |
32 | 232 | 0.1379 | -15 | c.-68 others(34): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178568839 | AGATAGAT others(8): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG03540.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0006 | a0001c0001t0001g0108 a0001c0001t0003g0204 a0001c0002t0006g0085 |
3 | 232 | 0.0129 | -15 | c.-68 others(34): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758005 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG01952.hp2 HG02027.hp2 HG02647.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0010 a0001c0001t0002g0034 a0001c0001t0002g0096 others(7): Show |
10 | 232 | 0.0431 | -15 | c.-67 others(34): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178758767 | GGATATAT others(8): Show |
G | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0117 | 1 | 232 | 0.0043 | -15 | c.-67 others(34): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178758829 | TATATCTC others(8): Show |
T | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0175 | 1 | 232 | 0.0043 | -15 | c.-67 others(34): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNN1_chr19_17962107_18005085 | 17970289 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG01070.hp2 HG01074.hp2 others(37): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0004 a0001c0001t0001g0028 a0001c0001t0001g0029 others(36): Show |
40 | 378 | 0.1058 | -15 | c.-82 others(32): Show |
KCNN1 | ENSG00000105642.16 | transcript | ENST00000684775.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
KCNN4_chr19_43761533_43785973 | 43764350 | CATTATTA others(8): Show |
C | downstream_gene_variant | MODIFIER | HG02258.hp1 NA18941.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 a0001c0001t0001g0190 |
2 | 440 | 0.0046 | -15 | c.*27 others(26): Show |
KCNN4 | ENSG00000104783.15 | transcript | ENST00000648319.1 | protein_coding | 2182 | chr19 | TogoVar | |||||||
KCNN4_chr19_43761533_43785973 | 43764388 | TTATTATT others(8): Show |
T | downstream_gene_variant | MODIFIER | HG00621.hp2 HG00733.hp2 HG01081.hp1 others(23): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0007t0002 | a0001c0001t0002g0011 a0001c0001t0002g0026 a0001c0001t0002g0028 others(22): Show |
26 | 440 | 0.0591 | -15 | c.*26 others(26): Show |
KCNN4 | ENSG00000104783.15 | transcript | ENST00000648319.1 | protein_coding | 2144 | chr19 | TogoVar | |||||||
KCNN4_chr19_43761533_43785973 | 43764391 | TTATTATT others(8): Show |
T | downstream_gene_variant | MODIFIER | HG01978.hp2 HG03017.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0307 a0001c0001t0003g0078 a0001c0001t0003g0316 |
3 | 440 | 0.0068 | -15 | c.*26 others(26): Show |
KCNN4 | ENSG00000104783.15 | transcript | ENST00000648319.1 | protein_coding | 2141 | chr19 | TogoVar | |||||||
KCNQ1_chr11_2440008_2854105 | 2463330 | CTGCTGAG others(8): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 208 | 0.0048 | -15 | c.386 others(34): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KCNQ1_chr11_2440008_2854105 | 2496495 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0038 | 1 | 208 | 0.0048 | -15 | c.387 others(34): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KCNQ1_chr11_2440008_2854105 | 2785601 | CATTTAAT others(8): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(201): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0014 others(201): Show |
204 | 208 | 0.9808 | -15 | c.179 others(34): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63442987 | TACCATCA others(8): Show |
T | intron_variant | MODIFIER | NA20752.hp1 | a0002 | a0002c0001 | a0002c0001t0006 | a0002c0001t0006g0126 | 1 | 330 | 0.0030 | -15 | c.691 others(30): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63443084 | CCATTATC others(8): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02148.hp1 HG02258.hp2 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0020a0002c0001t0058 | a0002c0001t0020g0204 a0002c0001t0020g0206 a0002c0001t0020g0243 others(1): Show |
4 | 330 | 0.0121 | -15 | c.691 others(30): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63443370 | TCACCACC others(8): Show |
T | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0026 | a0001c0026t0053 | a0001c0026t0053g0024 | 1 | 330 | 0.0030 | -15 | c.691 others(30): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63443385 | CCACCACC others(8): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG00639.hp1 others(24): Show |
a0001a0002 | a0001c0002a0001c0005a0002c0001 | a0001c0002t0022a0001c0005t0047a0002c0001t0001others(6): Show | a0001c0002t0022g0002 a0001c0005t0047g0066 a0002c0001t0001g0067 others(23): Show |
27 | 330 | 0.0818 | -15 | c.691 others(30): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63473807 | AGTGCTGC others(8): Show |
A | upstream_gene_variant | MODIFIER | NA18939.hp1 | a0011 | a0011c0024 | a0011c0024t0041 | a0011c0024t0041g0008 | 1 | 330 | 0.0030 | -15 | c.-13 others(26): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 1153 | chr20 | TogoVar | |||||||
KCNQ3_chr8_132115861_132486095 | 132168765 | GTGTGTGT others(8): Show |
G | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0106 | a0001c0001t0106g0169 | 1 | 176 | 0.0057 | -15 | c.123 others(34): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 8/14 | chr8 | TogoVar | |||||||
KCNQ3_chr8_132115861_132486095 | 132187840 | GTGGTGGT others(8): Show |
G | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0007 | a0001c0007t0059 | a0001c0007t0059g0057 | 1 | 176 | 0.0057 | -15 | c.387 others(32): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
KCNQ3_chr8_132115861_132486095 | 132370890 | CATCTCCA others(8): Show |
C | intron_variant | MODIFIER | HG02647.hp2 NA19043.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0041a0001c0001t0047a0001c0001t0070 | a0001c0001t0041g0017 a0001c0001t0047g0046 a0001c0001t0070g0066 |
3 | 176 | 0.0171 | -15 | c.386 others(36): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
KCNQ5_chr6_72617064_73203853 | 73025623 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01099.hp2 HG02109.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0013 a0001c0001t0002g0006 a0001c0001t0002g0036 others(19): Show |
22 | 80 | 0.2750 | -15 | c.490 others(34): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |