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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNMA1_chr10_76879882_77642808 | 77382986 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG03486.hp2 HG04184.hp2 NA18906.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002a0001c0002t0017 | a0001c0001t0002g0081 a0001c0002t0002g0044 a0001c0002t0017g0045 |
3 | 106 | 0.0283 | -18 | c.540 others(37): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 2/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77572569 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0082 | 1 | 106 | 0.0094 | -18 | c.378 others(37): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 1/27 | chr10 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178571447 | GATATATA others(11): Show |
G | intron_variant | MODIFIER | HG01169.hp2 HG02004.hp1 HG02723.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0164 a0001c0001t0002g0183 a0001c0001t0003g0163 others(1): Show |
4 | 232 | 0.0172 | -18 | c.-68 others(37): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178614247 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG02451.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0206 a0001c0001t0002g0207 |
2 | 232 | 0.0086 | -18 | c.-68 others(37): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178676742 | TCAATATA others(11): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01884.hp1 HG02451.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0161 a0001c0001t0002g0206 a0001c0001t0002g0207 others(2): Show |
5 | 232 | 0.0216 | -18 | c.-67 others(39): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178678986 | TTTGTTGT others(11): Show |
T | intron_variant | MODIFIER | HG00323.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 a0001c0001t0002g0047 |
2 | 232 | 0.0086 | -18 | c.-67 others(39): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178757720 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0165 | 1 | 232 | 0.0043 | -18 | c.-67 others(37): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758026 | GGATATAT others(11): Show |
G | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0164 | 1 | 232 | 0.0043 | -18 | c.-67 others(37): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758962 | GATATATA others(11): Show |
G | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0111 | 1 | 232 | 0.0043 | -18 | c.-67 others(37): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759042 | GATATATA others(11): Show |
G | intron_variant | MODIFIER | HG02922.hp2 HG02965.hp1 HG03486.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0100 a0001c0001t0003g0106 a0001c0001t0003g0107 others(2): Show |
5 | 232 | 0.0216 | -18 | c.-67 others(37): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759278 | TATCTCTC others(11): Show |
T | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0202 | 1 | 232 | 0.0043 | -18 | c.-67 others(37): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759298 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0209 | 1 | 232 | 0.0043 | -18 | c.-67 others(37): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNN1_chr19_17962107_18005085 | 17970289 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02572.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0002g0076 a0001c0001t0004g0005 a0001c0001t0004g0006 others(4): Show |
9 | 378 | 0.0238 | -18 | c.-82 others(35): Show |
KCNN1 | ENSG00000105642.16 | transcript | ENST00000684775.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
KCNN2_chr5_114357070_114501496 | 114378723 | TAGTGTCA others(11): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02451.hp1 HG02572.hp1 others(3): Show |
a0002a0008 | a0002c0002a0002c0011a0002c0014others(1): Show | a0002c0002t0001a0002c0011t0001a0002c0014t0001others(1): Show | a0002c0002t0001g0238 a0002c0002t0001g0240 a0002c0011t0001g0239 others(3): Show |
6 | 250 | 0.0240 | -18 | c.121 others(39): Show |
KCNN2 | ENSG00000080709.17 | transcript | ENST00000673685.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNN2_chr5_114357070_114501496 | 114440617 | CAGGTGTG others(11): Show |
C | intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 250 | 0.0040 | -18 | c.163 others(39): Show |
KCNN2 | ENSG00000080709.17 | transcript | ENST00000673685.1 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154702700 | GATATATA others(11): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02071.hp2 HG03130.hp1 HG03139.hp2 others(2): Show |
a0001a0003a0007others(1): Show | a0001c0001a0003c0003a0007c0020others(1): Show | a0001c0001t0072a0003c0003t0026a0003c0003t0114others(2): Show | a0001c0001t0072g0071 a0003c0003t0026g0181 a0003c0003t0114g0233 others(2): Show |
5 | 238 | 0.0210 | -18 | c.*52 others(29): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 8/8 | 5258 | chr1 | TogoVar | ||||||
KCNN4_chr19_43761533_43785973 | 43764350 | CATTATTA others(11): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01515.hp1 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 a0001c0001t0001g0127 a0001c0001t0001g0276 others(1): Show |
4 | 440 | 0.0091 | -18 | c.*27 others(29): Show |
KCNN4 | ENSG00000104783.15 | transcript | ENST00000648319.1 | protein_coding | 2182 | chr19 | TogoVar | |||||||
KCNN4_chr19_43761533_43785973 | 43764385 | TTATTATT others(11): Show |
T | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01192.hp2 NA19060.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 a0001c0001t0002g0126 a0001c0001t0002g0221 others(1): Show |
4 | 440 | 0.0091 | -18 | c.*26 others(29): Show |
KCNN4 | ENSG00000104783.15 | transcript | ENST00000648319.1 | protein_coding | 2147 | chr19 | TogoVar | |||||||
KCNN4_chr19_43761533_43785973 | 43764388 | TTATTATT others(11): Show |
T | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02559.hp2 HG02717.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022 a0001c0001t0003g0063 a0001c0001t0003g0204 |
4 | 440 | 0.0091 | -18 | c.*26 others(29): Show |
KCNN4 | ENSG00000104783.15 | transcript | ENST00000648319.1 | protein_coding | 2144 | chr19 | TogoVar | |||||||
KCNQ1_chr11_2440008_2854105 | 2456763 | TCCAAAAA others(11): Show |
T | intron_variant | MODIFIER | HG02895.hp2 HG03225.hp1 HG03486.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0006a0003c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0014 a0001c0001t0001g0053 a0001c0001t0002g0016 others(3): Show |
6 | 208 | 0.0289 | -18 | c.386 others(37): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 1/15 | chr11 | TogoVar | |||||||
KCNQ1_chr11_2440008_2854105 | 2850156 | AGGGCCCT others(11): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp1 HG01981.hp2 HG02148.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0108 a0001c0001t0001g0145 a0001c0002t0001g0028 others(1): Show |
4 | 208 | 0.0192 | -18 | c.*21 others(29): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 1052 | chr11 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63431980 | GCAGGGAA others(11): Show |
G | intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0001 | a0002c0001t0006 | a0002c0001t0006g0095 | 1 | 330 | 0.0030 | -18 | c.111 others(35): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 8/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63432088 | ACAGGGAA others(11): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG01884.hp2 NA19030.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0001c0002t0025a0002c0001t0014 | a0001c0002t0002g0158 a0001c0002t0025g0211 a0002c0001t0014g0168 |
3 | 330 | 0.0091 | -18 | c.111 others(35): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 8/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63432224 | CTCCACCC others(11): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01106.hp2 HG01256.hp1 others(15): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0008others(1): Show | a0001c0002t0022a0001c0002t0034a0001c0002t0043others(8): Show | a0001c0002t0022g0002 a0001c0002t0034g0040 a0001c0002t0034g0256 others(14): Show |
18 | 330 | 0.0546 | -18 | c.111 others(35): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 8/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63432332 | CTCCACCC others(11): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG03453.hp1 |
a0001 | a0001c0002 | a0001c0002t0068a0001c0002t0072 | a0001c0002t0068g0033 a0001c0002t0072g0173 |
2 | 330 | 0.0061 | -18 | c.111 others(35): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 8/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63432350 | ATCCACCC others(11): Show |
A | intron_variant | MODIFIER | HG02723.hp1 NA19043.hp2 |
a0001 | a0001c0002a0001c0017 | a0001c0002t0075a0001c0017t0051 | a0001c0002t0075g0222 a0001c0017t0051g0160 |
2 | 330 | 0.0061 | -18 | c.111 others(35): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 8/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63432394 | ACAGGGAA others(11): Show |
A | intron_variant | MODIFIER | HG01952.hp2 HG03834.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0002c0001t0063 | a0001c0002t0002g0177 a0002c0001t0063g0209 |
2 | 330 | 0.0061 | -18 | c.111 others(37): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 8/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63432584 | ATCCACCC others(11): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(74): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0004others(11): Show | a0001c0002t0005a0001c0002t0009a0001c0002t0010others(41): Show | a0001c0002t0005g0021 a0001c0002t0005g0022 a0001c0002t0005g0045 others(73): Show |
77 | 330 | 0.2333 | -18 | c.111 others(37): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 8/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63432668 | AGAAGGCC others(11): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG03654.hp1 HG04184.hp2 |
a0001a0002 | a0001c0008a0002c0001 | a0001c0008t0027a0002c0001t0006 | a0001c0008t0027g0312 a0002c0001t0006g0063 a0002c0001t0006g0083 |
3 | 330 | 0.0091 | -18 | c.111 others(37): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 8/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63432684 | AGGGAAGG others(11): Show |
A | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0017 | a0001c0017t0051 | a0001c0017t0051g0160 | 1 | 330 | 0.0030 | -18 | c.111 others(37): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 8/16 | chr20 | TogoVar | |||||||
KCNQ3_chr8_132115861_132486095 | 132168717 | ATGTGTGT others(11): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp2 HG01071.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(17): Show | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0002g0114 others(19): Show |
22 | 176 | 0.1250 | -18 | c.123 others(37): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 8/14 | chr8 | TogoVar | |||||||
KCNQ3_chr8_132115861_132486095 | 132479949 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0037 | 1 | 176 | 0.0057 | -18 | c.386 others(33): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
KCNQ5_chr6_72617064_73203853 | 72746064 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00597.hp2 others(36): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0013 a0001c0001t0002g0005 a0001c0001t0002g0036 others(36): Show |
39 | 80 | 0.4875 | -18 | c.398 others(39): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCNQ5_chr6_72617064_73203853 | 72779821 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG02109.hp2 HG02145.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0002g0006 a0001c0001t0002g0036 a0001c0001t0004g0045 others(12): Show |
15 | 80 | 0.1875 | -18 | c.398 others(39): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCNQ5_chr6_72617064_73203853 | 72962200 | TACATATA others(11): Show |
T | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0011 | a0001c0011t0034 | a0001c0011t0034g0003 | 1 | 80 | 0.0125 | -18 | c.399 others(37): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCNQ5_chr6_72617064_73203853 | 73197580 | TACACACA others(11): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00639.hp2 HG02083.hp2 HG02965.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0005a0001c0001t0018a0001c0002t0005others(5): Show | a0001c0001t0005g0014 a0001c0001t0005g0073 a0001c0001t0005g0074 others(8): Show |
11 | 80 | 0.1375 | -18 | c.*22 others(29): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 14/14 | 2211 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KCNRG_chr13_50010444_50025922 | 50015090 | AAAAAATA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 448 | 0.0022 | -18 | c.-40 others(27): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 353 | chr13 | TogoVar | |||||||
KCNRG_chr13_50010444_50025922 | 50015092 | AAAATATA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG01106.hp1 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 2 | 448 | 0.0045 | -18 | c.-40 others(27): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 351 | chr13 | TogoVar | |||||||
KCNS3_chr2_17873667_17937958 | 17888629 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0127 a0001c0001t0002g0109 |
2 | 384 | 0.0052 | -18 | c.-25 others(37): Show |
KCNS3 | ENSG00000170745.12 | transcript | ENST00000304101.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNS3_chr2_17873667_17937958 | 17921911 | GTGTGTAT others(11): Show |
G | intron_variant | MODIFIER | HG02818.hp2 HG02976.hp1 HG03540.hp2 |
a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0327 a0003c0006t0001g0328 a0003c0006t0001g0329 |
3 | 384 | 0.0078 | -18 | c.-60 others(35): Show |
KCNS3 | ENSG00000170745.12 | transcript | ENST00000304101.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNT1_chr9_135697185_135800502 | 135768254 | GGGGCACT others(11): Show |
G | intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 272 | 0.0037 | -18 | c.133 others(35): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 13/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCNT1_chr9_135697185_135800502 | 135774253 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG02004.hp1 HG02145.hp1 others(3): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0032a0001c0004t0001 | a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0262 others(3): Show |
6 | 272 | 0.0221 | -18 | c.224 others(37): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCNT2_chr1_196220779_196613440 | 196596054 | GTGTATAT others(11): Show |
G | intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 | 1 | 136 | 0.0074 | -18 | c.95+ others(35): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | TogoVar | |||||||
KCNV1_chr8_109958636_109980771 | 109975233 | GAAGACCC others(11): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG02630.hp1 HG02723.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0017 a0001c0001t0005g0021 |
7 | 372 | 0.0188 | -18 | c.-80 others(33): Show |
KCNV1 | ENSG00000164794.9 | transcript | ENST00000524391.6 | protein_coding | 1/3 | chr8 | TogoVar | |||||||
KCNV2_chr9_2712510_2735037 | 2722066 | TTTATAAA others(11): Show |
T | intron_variant | MODIFIER | HG02293.hp2 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0069 | 1 | 442 | 0.0023 | -18 | c.135 others(37): Show |
KCNV2 | ENSG00000168263.9 | transcript | ENST00000382082.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCNV2_chr9_2712510_2735037 | 2722154 | TTTATAAA others(11): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG02896.hp1 NA18950.hp1 |
a0001 | a0001c0001a0001c0002a0001c0020 | a0001c0001t0013a0001c0002t0002a0001c0020t0013 | a0001c0001t0013g0142 a0001c0002t0002g0084 a0001c0020t0013g0141 |
3 | 442 | 0.0068 | -18 | c.135 others(37): Show |
KCNV2 | ENSG00000168263.9 | transcript | ENST00000382082.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCNV2_chr9_2712510_2735037 | 2722280 | CAAATTAG others(11): Show |
C | intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0075 | 1 | 442 | 0.0023 | -18 | c.135 others(37): Show |
KCNV2 | ENSG00000168263.9 | transcript | ENST00000382082.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCTD11_chr17_7347162_7359944 | 7357546 | GAGGAGAA others(11): Show |
G | downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0000 | 1 | 418 | 0.0024 | -18 | c.*39 others(29): Show |
KCTD11 | ENSG00000213859.8 | transcript | ENST00000333751.8 | protein_coding | 2603 | WARNING_TRANSCRIPT_NO_START_CODON | chr17 | TogoVar | ||||||
KCTD11_chr17_7347162_7359944 | 7357549 | GAGAAGAA others(11): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(100): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 others(18): Show |
103 | 418 | 0.2464 | -18 | c.*39 others(29): Show |
KCTD11 | ENSG00000213859.8 | transcript | ENST00000333751.8 | protein_coding | 2606 | WARNING_TRANSCRIPT_NO_START_CODON | chr17 | TogoVar | ||||||
KCTD11_chr17_7347162_7359944 | 7357577 | AGAAGAAG others(11): Show |
A | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00597.hp2 others(39): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0001t0015a0001c0007t0029 | a0001c0001t0003g0000 a0001c0001t0015g0000 a0001c0007t0029g0000 |
42 | 418 | 0.1005 | -18 | c.*39 others(29): Show |
KCTD11 | ENSG00000213859.8 | transcript | ENST00000333751.8 | protein_coding | 2634 | WARNING_TRANSCRIPT_NO_START_CODON | chr17 | TogoVar |