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 | 77243194 | T | TCCACACA | intron_variant | MODIFIER | HG01081.hp1 HG01167.hp2 HG01168.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0028 others(28): Show |
31 | 106 | 0.2925 | 7 | c.602 others(24): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 3/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77295787 | C | CAAAAAAA | intron_variant | MODIFIER | HG01884.hp1 HG02630.hp2 HG02970.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0053 a0001c0001t0001g0066 a0001c0001t0003g0039 others(4): Show |
7 | 106 | 0.0660 | 7 | c.541 others(26): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 2/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77570593 | A | AGGGGGAG | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG01071.hp1 others(74): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0027 others(74): Show |
77 | 106 | 0.7264 | 7 | c.378 others(26): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 1/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77591977 | C | CACTAATG | intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG02559.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(3): Show | a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0043 others(7): Show |
10 | 106 | 0.0943 | 7 | c.378 others(26): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 1/27 | chr10 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178655095 | C | CTCTCTCT | intron_variant | MODIFIER | HG00642.hp1 NA19077.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0011 a0001c0002t0001g0059 |
2 | 232 | 0.0086 | 7 | c.-68 others(28): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178691107 | C | CTTTTTTT | intron_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG00735.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0161 a0001c0001t0002g0022 a0001c0001t0002g0040 others(29): Show |
32 | 232 | 0.1379 | 7 | c.-67 others(28): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178757699 | T | TTATATCC | intron_variant | MODIFIER | HG00280.hp2 HG02129.hp1 NA18941.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0149 a0001c0001t0003g0155 a0001c0001t0003g0174 others(1): Show |
4 | 232 | 0.0172 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178757727 | T | TTATATCC | intron_variant | MODIFIER | HG01496.hp1 HG02165.hp2 NA18953.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0041 a0001c0001t0003g0067 a0001c0001t0003g0135 others(3): Show |
6 | 232 | 0.0259 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178757823 | A | ATATATCC | intron_variant | MODIFIER | HG02109.hp1 HG03209.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0217 a0001c0002t0001g0226 |
2 | 232 | 0.0086 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178758814 | G | GAGATATA | intron_variant | MODIFIER | HG01515.hp2 HG01517.hp1 HG02257.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0034 a0001c0001t0002g0168 a0001c0001t0002g0178 others(1): Show |
4 | 232 | 0.0172 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178758843 | G | GAGATATA | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG02165.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0010 a0001c0001t0002g0034 a0001c0001t0002g0040 others(10): Show |
13 | 232 | 0.0560 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178758843 | G | GATATATA | intron_variant | MODIFIER | HG00639.hp2 HG02818.hp2 HG02976.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0006 | a0001c0001t0002g0089 a0001c0001t0002g0164 a0001c0001t0002g0223 others(2): Show |
5 | 232 | 0.0216 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178758872 | G | GAGATATA | intron_variant | MODIFIER | HG02257.hp2 HG02647.hp1 HG02896.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0096 others(4): Show |
7 | 232 | 0.0302 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178758872 | G | GATATATA | intron_variant | MODIFIER | HG02630.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0209 a0001c0001t0002g0220 |
2 | 232 | 0.0086 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178758891 | T | TATATCTC | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0040 a0001c0001t0002g0091 a0001c0001t0002g0092 others(3): Show |
6 | 232 | 0.0259 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178758901 | G | GAGATATA | intron_variant | MODIFIER | HG02622.hp2 HG02922.hp2 HG02965.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0100 a0001c0001t0003g0106 a0001c0001t0003g0107 others(5): Show |
8 | 232 | 0.0345 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178758901 | G | GATATATA | intron_variant | MODIFIER | HG02145.hp1 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0164 a0001c0001t0002g0224 |
2 | 232 | 0.0086 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178758920 | T | TATATCTC | intron_variant | MODIFIER | HG01261.hp2 HG02165.hp2 NA18939.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0139 a0001c0001t0003g0167 a0001c0001t0003g0212 others(5): Show |
8 | 232 | 0.0345 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178758930 | G | GAGATATA | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp1 HG02717.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 a0001c0001t0002g0091 a0001c0001t0002g0092 others(1): Show |
4 | 232 | 0.0172 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178758931 | G | GGATATAT | intron_variant | MODIFIER | HG02109.hp1 HG02717.hp1 HG03209.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0002t0001a0001c0002t0006others(1): Show | a0001c0001t0003g0088 a0001c0002t0001g0079 a0001c0002t0001g0217 others(3): Show |
6 | 232 | 0.0259 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178759089 | G | GGATATAT | intron_variant | MODIFIER | HG01069.hp2 HG01515.hp1 HG03017.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0122 a0001c0001t0003g0127 a0001c0001t0003g0130 others(3): Show |
6 | 232 | 0.0259 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178759114 | G | GGATATAT | intron_variant | MODIFIER | HG01069.hp2 HG01515.hp1 HG03017.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0122 a0001c0001t0003g0130 a0001c0001t0003g0177 |
3 | 232 | 0.0129 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178759232 | G | GGATATAT | intron_variant | MODIFIER | HG02280.hp1 HG02809.hp2 NA18979.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0008 | a0001c0001t0002g0076 a0001c0001t0002g0221 a0001c0002t0008g0018 |
3 | 232 | 0.0129 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178759260 | A | AGGGATAT | intron_variant | MODIFIER | HG02622.hp2 HG06807.hp2 NA18941.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0081 a0001c0001t0003g0155 a0001c0001t0003g0173 others(1): Show |
4 | 232 | 0.0172 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178759292 | G | GGATATAT | intron_variant | MODIFIER | HG00280.hp2 HG01261.hp2 HG01952.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0004 a0001c0001t0002g0096 a0001c0001t0002g0149 others(12): Show |
15 | 232 | 0.0647 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178759316 | G | GGATATAT | intron_variant | MODIFIER | HG00639.hp1 HG02027.hp2 HG03688.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0062 a0001c0001t0003g0023 a0001c0001t0003g0028 others(1): Show |
4 | 232 | 0.0172 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178759344 | G | GGATATAT | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0040 a0001c0001t0002g0091 a0001c0001t0002g0092 others(3): Show |
6 | 232 | 0.0259 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178759372 | G | GGATATAT | intron_variant | MODIFIER | HG01192.hp1 HG01261.hp2 HG01358.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0040 a0001c0001t0002g0091 a0001c0001t0002g0092 others(17): Show |
20 | 232 | 0.0862 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178759402 | G | GGATATAT | intron_variant | MODIFIER | HG00280.hp2 HG01261.hp2 NA18943.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0149 a0001c0001t0003g0212 a0001c0001t0004g0074 others(1): Show |
4 | 232 | 0.0172 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178759662 | G | GATATATA | intron_variant | MODIFIER | HG00280.hp2 HG01192.hp1 HG01358.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0040 a0001c0001t0002g0096 a0001c0001t0002g0113 others(28): Show |
31 | 232 | 0.1336 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNN1_chr19_17962107_18005085 | 17980228 | A | ATTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG01243.hp1 HG04204.hp2 others(7): Show |
a0001a0013 | a0001c0001a0013c0009 | a0001c0001t0001a0001c0001t0002a0013c0009t0001 | a0001c0001t0001g0320 a0001c0001t0001g0323 a0001c0001t0001g0329 others(7): Show |
10 | 378 | 0.0265 | 7 | c.499 others(24): Show |
KCNN1 | ENSG00000105642.16 | transcript | ENST00000684775.1 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154800888 | T | TACAAAGA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(101): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0004a0001c0008others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(83): Show | a0001c0001t0001g0057 a0001c0001t0001g0072 a0001c0001t0001g0119 others(100): Show |
104 | 238 | 0.4370 | 7 | c.102 others(28): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
KCNQ1_chr11_2440008_2854105 | 2521029 | T | TTGTTTGC | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(161): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0020 others(161): Show |
164 | 208 | 0.7885 | 7 | c.387 others(24): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KCNQ1_chr11_2440008_2854105 | 2598609 | T | TAAAAAAA | intron_variant | MODIFIER | HG02280.hp1 HG02572.hp2 HG02630.hp1 others(18): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0005a0003c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0042 a0001c0001t0001g0055 a0001c0001t0001g0138 others(18): Show |
21 | 208 | 0.1010 | 7 | c.139 others(26): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KCNQ1_chr11_2440008_2854105 | 2620212 | T | TATATATA | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG03540.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(1): Show | a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0007g0018 others(3): Show |
6 | 208 | 0.0289 | 7 | c.139 others(28): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 10/15 | chr11 | TogoVar | |||||||
KCNQ1_chr11_2440008_2854105 | 2756951 | T | TAAAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG01981.hp1 others(4): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0145 a0001c0001t0002g0056 a0001c0001t0002g0161 others(4): Show |
7 | 208 | 0.0337 | 7 | c.151 others(28): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63470236 | A | AGCTGGGG | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(86): Show |
a0001a0002a0005others(3): Show | a0001c0002a0001c0003a0001c0007others(14): Show | a0001c0002t0003a0001c0002t0005a0001c0002t0023others(39): Show | a0001c0002t0003g0304 a0001c0002t0005g0022 a0001c0002t0005g0023 others(85): Show |
89 | 330 | 0.2697 | 7 | c.296 others(24): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 1/16 | chr20 | TogoVar | |||||||
KCNQ3_chr8_132115861_132486095 | 132403016 | C | CAAAAAAA | intron_variant | MODIFIER | HG01167.hp2 HG01884.hp1 HG02145.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0010others(11): Show | a0001c0001t0004g0074 a0001c0001t0004g0096 a0001c0001t0007g0166 others(14): Show |
17 | 176 | 0.0966 | 7 | c.386 others(26): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
KCNQ5_chr6_72617064_73203853 | 72658579 | T | TATATATA | intron_variant | MODIFIER | HG02895.hp2 HG06807.hp2 |
a0001 | a0001c0005a0001c0009 | a0001c0005t0006a0001c0009t0014 | a0001c0005t0006g0017 a0001c0009t0014g0031 |
2 | 80 | 0.0250 | 7 | c.398 others(26): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | chr6 | TogoVar | |||||||
KCNQ5_chr6_72617064_73203853 | 72838949 | C | CAAAAAAA | intron_variant | MODIFIER | HG01071.hp1 HG02293.hp1 HG02723.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0012a0001c0002t0010others(3): Show | a0001c0001t0003g0011 a0001c0001t0012g0024 a0001c0002t0010g0052 others(3): Show |
6 | 80 | 0.0750 | 7 | c.399 others(28): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCNQ5_chr6_72617064_73203853 | 72922810 | C | CTTTTTCT | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00639.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0013 a0001c0001t0003g0015 a0001c0001t0003g0067 others(15): Show |
18 | 80 | 0.2250 | 7 | c.399 others(26): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCNRG_chr13_50010444_50025922 | 50014342 | A | ATATATAT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG02027.hp2 NA18968.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 |
14 | 448 | 0.0313 | 7 | c.-11 others(18): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 1101 | chr13 | TogoVar | |||||||
KCNRG_chr13_50010444_50025922 | 50014344 | A | AAATATAT | upstream_gene_variant | MODIFIER | HG00597.hp1 HG01243.hp2 HG01433.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(2): Show |
17 | 448 | 0.0380 | 7 | c.-11 others(18): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 1099 | chr13 | TogoVar | |||||||
KCNRG_chr13_50010444_50025922 | 50014344 | A | ATATATAT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00673.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(3): Show |
33 | 448 | 0.0737 | 7 | c.-11 others(18): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 1099 | chr13 | TogoVar | |||||||
KCNS3_chr2_17873667_17937958 | 17893940 | G | GTTTTTTT | intron_variant | MODIFIER | HG01975.hp2 HG02040.hp2 HG02056.hp1 others(29): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0053 a0001c0001t0001g0071 a0001c0001t0002g0026 others(28): Show |
32 | 384 | 0.0833 | 7 | c.-25 others(28): Show |
KCNS3 | ENSG00000170745.12 | transcript | ENST00000304101.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNU1_chr8_36779374_36941125 | 36817499 | C | CAAAAAAA | intron_variant | MODIFIER | HG00544.hp2 HG01358.hp2 HG02055.hp1 others(12): Show |
a0001a0003 | a0001c0002a0001c0004a0001c0019others(1): Show | a0001c0002t0001a0001c0004t0001a0001c0019t0001others(1): Show | a0001c0002t0001g0187 a0001c0002t0001g0283 a0001c0004t0001g0160 others(12): Show |
15 | 294 | 0.0510 | 7 | c.996 others(22): Show |
KCNU1 | ENSG00000215262.8 | transcript | ENST00000399881.8 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
KCNV2_chr9_2712510_2735037 | 2722408 | T | TAAATTAG | intron_variant | MODIFIER | HG01175.hp2 HG02559.hp1 HG02630.hp1 others(5): Show |
a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0024 a0002c0005t0004g0157 a0002c0005t0004g0158 others(2): Show |
8 | 442 | 0.0181 | 7 | c.135 others(26): Show |
KCNV2 | ENSG00000168263.9 | transcript | ENST00000382082.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCTD12_chr13_76875175_76891405 | 76877679 | A | ACGAGTCC | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01123.hp2 HG02735.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0052a0001c0001t0075a0001c0001t0121 | a0001c0001t0052g0000 a0001c0001t0075g0000 a0001c0001t0121g0000 |
4 | 468 | 0.0086 | 7 | c.*74 others(18): Show |
KCTD12 | ENSG00000178695.6 | transcript | ENST00000377474.4 | protein_coding | 2495 | chr13 | TogoVar | |||||||
KCTD13_chr16_29901339_29931226 | 29924174 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00733.hp2 HG00735.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0002g0012 others(2): Show |
9 | 358 | 0.0251 | 7 | c.245 others(22): Show |
KCTD13 | ENSG00000174943.11 | transcript | ENST00000568000.6 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
KCTD14_chr11_78010715_78028276 | 78012581 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(21): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0010 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0003g0008 a0001c0001t0003g0016 a0001c0001t0003g0033 others(9): Show |
24 | 468 | 0.0513 | 7 | c.*40 others(18): Show |
KCTD14 | ENSG00000151364.17 | transcript | ENST00000353172.6 | protein_coding | 3133 | chr11 | TogoVar |