regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 | 77572569 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01258.hp2 HG02027.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0007g0025a0001c0002t0001g0046a0001c0002t0002g0051others(2): Show | 5 | 106 | 0.0472 | 24 | c.378 others(43): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 1/27 | chr10 | TogoVar | ||||||
KCNMB1_chr5_170369671_170394367 | 170390513 | A | AAAATATA others(17): Show |
upstream_gene_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0005 | 1 | 432 | 0.0023 | 24 | c.-12 others(35): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1147 | chr5 | TogoVar | ||||||
KCNMB1_chr5_170369671_170394367 | 170390517 | A | AAAAAAAA others(17): Show |
upstream_gene_variant | MODIFIER | HG02976.hp1 | a0004 | a0004c0004 | a0004c0004t0054 | a0004c0004t0054g0122 | 1 | 432 | 0.0023 | 24 | c.-12 others(35): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1151 | chr5 | TogoVar | ||||||
KCNMB1_chr5_170369671_170394367 | 170390517 | A | AAAATATA others(17): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 432 | 0.0023 | 24 | c.-12 others(35): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1151 | chr5 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178754177 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0219 | 1 | 232 | 0.0043 | 24 | c.-67 others(43): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178757830 | C | CATCCAAG others(17): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG00738.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0022a0001c0001t0002g0046a0001c0001t0002g0047others(18): Show | 21 | 232 | 0.0905 | 24 | c.-67 others(43): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178757924 | G | GATACATA others(17): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02145.hp1 HG02630.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0089a0001c0001t0002g0117a0001c0001t0002g0209others(5): Show | 8 | 232 | 0.0345 | 24 | c.-67 others(43): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178758351 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 | 1 | 232 | 0.0043 | 24 | c.-67 others(43): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178758353 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0086 | 1 | 232 | 0.0043 | 24 | c.-67 others(43): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178758389 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0109 | 1 | 232 | 0.0043 | 24 | c.-67 others(43): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178758393 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0085 | 1 | 232 | 0.0043 | 24 | c.-67 others(43): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178758636 | C | CTCCAAGA others(17): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 232 | 0.0043 | 24 | c.-67 others(43): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178758636 | C | CTCTCCAA others(17): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0090 | 1 | 232 | 0.0043 | 24 | c.-67 others(43): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178758780 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 232 | 0.0043 | 24 | c.-67 others(43): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178759050 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0199 | 1 | 232 | 0.0043 | 24 | c.-67 others(43): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178759056 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0195 | 1 | 232 | 0.0043 | 24 | c.-67 others(43): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178759815 | T | TCTCTCTC others(17): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0212 | 1 | 232 | 0.0043 | 24 | c.-67 others(43): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759969 | T | TCTCTCTC others(17): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01358.hp1 HG01943.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0003g0058a0001c0001t0003g0126a0001c0002t0001g0055others(8): Show | 11 | 232 | 0.0474 | 24 | c.-67 others(43): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178765636 | C | CGTGTGCA others(17): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02717.hp1 NA19240.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0004t0001 | a0001c0001t0002g0082a0001c0001t0003g0227a0001c0004t0001g0084 | 3 | 232 | 0.0129 | 24 | c.-67 others(43): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178817218 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01257.hp2 HG01258.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005a0001c0001t0003g0006a0001c0001t0003g0083others(1): Show | 4 | 232 | 0.0172 | 24 | c.57- others(39): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNN2_chr5_114357070_114501496 | 114373640 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01943.hp2 HG02148.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0024a0001c0001t0001g0248a0002c0002t0001g0118others(3): Show | 6 | 250 | 0.0240 | 24 | c.121 others(43): Show |
KCNN2 | ENSG00000080709.17 | transcript | ENST00000673685.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
KCNN2_chr5_114357070_114501496 | 114375952 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01261.hp2 others(14): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0096a0002c0002t0001g0113a0002c0002t0001g0117others(14): Show | 17 | 250 | 0.0680 | 24 | c.121 others(45): Show |
KCNN2 | ENSG00000080709.17 | transcript | ENST00000673685.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
KCNN2_chr5_114357070_114501496 | 114449908 | A | ACACACAC others(17): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 250 | 0.0040 | 24 | c.163 others(45): Show |
KCNN2 | ENSG00000080709.17 | transcript | ENST00000673685.1 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
KCNN2_chr5_114357070_114501496 | 114449908 | A | ACACACAC others(17): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02615.hp1 HG04115.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0211a0002c0002t0001g0119a0002c0002t0001g0132 | 3 | 250 | 0.0120 | 24 | c.163 others(45): Show |
KCNN2 | ENSG00000080709.17 | transcript | ENST00000673685.1 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
KCNN3_chr1_154692455_154875281 | 154766416 | T | TTAAATAT others(17): Show |
intron_variant | MODIFIER | HG02129.hp2 NA19081.hp1 NA20752.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0065a0002c0002t0047 | a0001c0001t0001g0062a0001c0001t0065g0068a0002c0002t0047g0138 | 3 | 238 | 0.0126 | 24 | c.144 others(43): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 3/7 | chr1 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154766416 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01106.hp2 HG01261.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0057a0001c0001t0072a0002c0002t0003others(4): Show | a0001c0001t0057g0066a0001c0001t0072g0071a0002c0002t0003g0137others(4): Show | 7 | 238 | 0.0294 | 24 | c.144 others(43): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 3/7 | chr1 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154869723 | G | GGCTGCTG others(17): Show |
conservative_inframe_insertion | MODERATE | HG00140.hp2 HG03098.hp2 |
a0013 | a0013c0026 | a0013c0026t0016a0013c0026t0028 | a0013c0026t0016g0013a0013c0026t0028g0012 | 2 | 238 | 0.0084 | 24 | c.218 others(31): Show |
p.Gln others(11): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 1/8 | 558/13034 | 241/2196 | 81/731 | chr1 | TogoVar | ||
KCNQ1_chr11_2440008_2854105 | 2733814 | A | ACACACAC others(17): Show |
intron_variant | MODIFIER | HG00558.hp2 NA18983.hp1 |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0002a0005c0008t0002 | a0001c0001t0002g0123a0005c0008t0002g0064 | 2 | 208 | 0.0096 | 24 | c.151 others(45): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KCNQ1_chr11_2440008_2854105 | 2733814 | A | ACACACAC others(17): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 208 | 0.0048 | 24 | c.151 others(45): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KCNQ2_chr20_63395208_63477655 | 63442719 | C | CCACCATC others(17): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00738.hp2 HG00741.hp2 others(19): Show |
a0001a0002 | a0001c0002a0001c0016a0001c0021others(1): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0031others(7): Show | a0001c0002t0002g0047a0001c0002t0002g0082a0001c0002t0002g0136others(19): Show | 22 | 330 | 0.0667 | 24 | c.691 others(39): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63442899 | T | TCACCACC others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG03831.hp1 |
a0001a0002 | a0001c0003a0002c0006 | a0001c0003t0022a0002c0006t0001 | a0001c0003t0022g0111a0002c0006t0001g0112 | 2 | 330 | 0.0061 | 24 | c.691 others(39): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63445646 | A | ACCCTGTC others(17): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0008 | a0001c0008t0007 | a0001c0008t0007g0048 | 1 | 330 | 0.0030 | 24 | c.388 others(39): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 2/16 | chr20 | TogoVar | ||||||
KCNQ3_chr8_132115861_132486095 | 132154193 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0044 | 1 | 176 | 0.0057 | 24 | c.126 others(43): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 9/14 | chr8 | TogoVar | ||||||
KCNQ3_chr8_132115861_132486095 | 132187954 | G | GTGATGAT others(17): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01934.hp2 HG02055.hp1 others(11): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0019a0001c0001t0021a0001c0001t0024others(9): Show | a0001c0001t0019g0041a0001c0001t0019g0043a0001c0001t0021g0055others(11): Show | 14 | 176 | 0.0796 | 24 | c.387 others(41): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | ||||||
KCNQ3_chr8_132115861_132486095 | 132303565 | G | GATATATA others(17): Show |
intron_variant | MODIFIER | HG02647.hp2 NA18945.hp1 NA19030.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0041a0001c0001t0047others(2): Show | a0001c0001t0001g0004a0001c0001t0041g0017a0001c0001t0047g0046others(2): Show | 5 | 176 | 0.0284 | 24 | c.387 others(45): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | ||||||
KCNQ3_chr8_132115861_132486095 | 132403016 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01255.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0104 | a0001c0001t0001g0008a0001c0001t0104g0162 | 2 | 176 | 0.0114 | 24 | c.386 others(43): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | ||||||
KCNQ5_chr6_72617064_73203853 | 72854758 | T | TTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG03041.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0022 | a0001c0001t0005g0073a0001c0001t0022g0075 | 2 | 80 | 0.0250 | 24 | c.399 others(45): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KCNQ5_chr6_72617064_73203853 | 73097142 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0038 | 1 | 80 | 0.0125 | 24 | c.919 others(41): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KCNRG_chr13_50010444_50025922 | 50014360 | T | TATATATA others(17): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 448 | 0.0022 | 24 | c.-11 others(35): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 1083 | chr13 | TogoVar | ||||||
KCNS3_chr2_17873667_17937958 | 17884260 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0178 | 1 | 384 | 0.0026 | 24 | c.-25 others(43): Show |
KCNS3 | ENSG00000170745.12 | transcript | ENST00000304101.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KCNS3_chr2_17873667_17937958 | 17884268 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0116 | 1 | 384 | 0.0026 | 24 | c.-25 others(43): Show |
KCNS3 | ENSG00000170745.12 | transcript | ENST00000304101.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KCNS3_chr2_17873667_17937958 | 17887484 | G | GATCTATC others(17): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02071.hp2 HG02080.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(1): Show | a0001c0001t0001g0053a0001c0001t0002g0026a0001c0001t0002g0031others(19): Show | 23 | 384 | 0.0599 | 24 | c.-25 others(43): Show |
KCNS3 | ENSG00000170745.12 | transcript | ENST00000304101.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KCNS3_chr2_17873667_17937958 | 17888631 | A | ATATCTAT others(17): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0193 | 1 | 384 | 0.0026 | 24 | c.-25 others(43): Show |
KCNS3 | ENSG00000170745.12 | transcript | ENST00000304101.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KCNT1_chr9_135697185_135800502 | 135731991 | T | TATAGAGA others(17): Show |
intron_variant | MODIFIER | HG02071.hp1 NA19068.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0035a0001c0003t0002 | a0001c0002t0035g0109a0001c0003t0002g0192 | 2 | 272 | 0.0074 | 24 | c.254 others(43): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KCNT1_chr9_135697185_135800502 | 135731991 | T | TATATAGA others(17): Show |
intron_variant | MODIFIER | HG03130.hp2 HG03139.hp2 HG03927.hp1 others(1): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0012 | a0001c0001t0003a0001c0001t0007a0001c0002t0001others(1): Show | a0001c0001t0003g0168a0001c0001t0007g0029a0001c0002t0001g0115others(1): Show | 4 | 272 | 0.0147 | 24 | c.254 others(43): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KCNT1_chr9_135697185_135800502 | 135731991 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02486.hp2 NA19080.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0167a0001c0001t0002g0198a0001c0002t0001g0138 | 3 | 272 | 0.0110 | 24 | c.254 others(43): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KCNT1_chr9_135697185_135800502 | 135731991 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0199 | 1 | 272 | 0.0037 | 24 | c.254 others(43): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KCNT1_chr9_135697185_135800502 | 135731991 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075 | 1 | 272 | 0.0037 | 24 | c.254 others(43): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KCNT1_chr9_135697185_135800502 | 135732020 | A | AGAGAGAG others(17): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0006 | a0001c0006t0010 | a0001c0006t0010g0010 | 1 | 272 | 0.0037 | 24 | c.254 others(43): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KCNT1_chr9_135697185_135800502 | 135732024 | A | AGAGAGAG others(17): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02886.hp1 NA18970.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0194a0001c0001t0002g0188a0001c0003t0001g0180others(1): Show | 4 | 272 | 0.0147 | 24 | c.254 others(43): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |