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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNG2_chr18_79792938_79905100 | 79845268 | G | GGTGGCTG others(14): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 | 1 | 312 | 0.0032 | 21 | c.-11 others(42): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG3_chr2_42437017_42498982 | 42452243 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0332 | 1 | 342 | 0.0029 | 21 | c.666 others(38): Show |
KCNG3 | ENSG00000171126.8 | transcript | ENST00000306078.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
KCNG3_chr2_42437017_42498982 | 42452243 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02523.hp2 HG03688.hp2 NA18990.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0052 a0001c0001t0003g0055 a0001c0001t0003g0065 others(1): Show |
4 | 342 | 0.0117 | 21 | c.666 others(38): Show |
KCNG3 | ENSG00000171126.8 | transcript | ENST00000306078.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
KCNG3_chr2_42437017_42498982 | 42452243 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02922.hp1 NA18993.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0103 a0001c0001t0003g0115 |
2 | 342 | 0.0059 | 21 | c.666 others(38): Show |
KCNG3 | ENSG00000171126.8 | transcript | ENST00000306078.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 210702851 | T | TACATCAG others(14): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02970.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0010a0001c0003t0010 | a0001c0001t0010g0138 a0001c0003t0010g0042 |
2 | 164 | 0.0122 | 21 | c.211 others(42): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 10/10 | chr1 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 210806820 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0042 | 1 | 164 | 0.0061 | 21 | c.146 others(40): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 210806828 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0008 | 1 | 164 | 0.0061 | 21 | c.146 others(40): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 210856898 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0119 | 1 | 164 | 0.0061 | 21 | c.146 others(42): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
KCNH5_chr14_62694464_63050458 | 62853460 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0002 | a0002c0002 | a0002c0002t0051 | a0002c0002t0051g0021 | 1 | 224 | 0.0045 | 21 | c.137 others(40): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 7/10 | chr14 | TogoVar | |||||||
KCNH7_chr2_162366407_162843767 | 162429383 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02897.hp1 HG03130.hp2 others(1): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0004 a0001c0001t0001g0032 a0001c0001t0001g0035 others(1): Show |
4 | 100 | 0.0400 | 21 | c.195 others(40): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 8/15 | chr2 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 20743010 | A | ATGTGAAG others(14): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02630.hp1 HG02886.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0010others(1): Show | a0001c0001t0004g0026 a0001c0001t0005g0027 a0001c0001t0010g0033 others(1): Show |
4 | 80 | 0.0500 | 21 | c.429 others(38): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 5/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 20833484 | C | CAATAATA others(14): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02965.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007 | a0001c0001t0001g0075 a0001c0001t0004g0043 a0001c0001t0007g0032 |
3 | 80 | 0.0375 | 21 | c.288 others(40): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 3/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 20988000 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01243.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0006 | a0001c0001t0002g0074 a0001c0002t0006g0050 |
2 | 80 | 0.0250 | 21 | c.62- others(40): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21166938 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0030 a0001c0001t0004g0026 |
2 | 80 | 0.0250 | 21 | c.62- others(40): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21311647 | C | CCACTGCA others(14): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02647.hp2 HG02897.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0051 a0001c0001t0001g0066 a0001c0001t0001g0070 others(4): Show |
7 | 80 | 0.0875 | 21 | c.62- others(40): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21320964 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02615.hp2 HG02622.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0002g0074 a0001c0001t0004g0026 a0001c0001t0008g0069 others(1): Show |
4 | 80 | 0.0500 | 21 | c.62- others(40): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21331671 | T | TTTTATGA others(14): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01123.hp1 HG01123.hp2 others(47): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0014 others(47): Show |
50 | 80 | 0.6250 | 21 | c.62- others(40): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21501688 | T | TGTGTGTG others(14): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 1 | 80 | 0.0125 | 21 | c.61+ others(40): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21504475 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0016 | 1 | 80 | 0.0125 | 21 | c.61+ others(40): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21556930 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 80 | 0.0125 | 21 | c.61+ others(40): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21785610 | T | TAAATAAA others(14): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG02257.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0068 others(9): Show |
12 | 80 | 0.1500 | 21 | c.61+ others(40): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNJ15_chr21_38251991_38312357 | 38281755 | G | GAATGATA others(14): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01884.hp2 HG02129.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0049a0001c0001t0050others(2): Show | a0001c0001t0018g0012 a0001c0001t0018g0095 a0001c0001t0049g0217 others(3): Show |
8 | 406 | 0.0197 | 21 | c.-11 others(42): Show |
KCNJ15 | ENSG00000157551.19 | transcript | ENST00000398938.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
KCNJ3_chr2_154693695_154863354 | 154735102 | T | TGTGTGTG others(14): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0250 | 1 | 284 | 0.0035 | 21 | c.919 others(40): Show |
KCNJ3 | ENSG00000162989.5 | transcript | ENST00000295101.3 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37607482 | A | ATATATAT others(14): Show |
3_prime_UTR_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0104 | 1 | 198 | 0.0051 | 21 | c.*17 others(34): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 4/4 | 17676 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37615244 | C | CTTTTTTT others(14): Show |
3_prime_UTR_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0165 | a0001c0001t0165g0095 | 1 | 198 | 0.0051 | 21 | c.*98 others(32): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 4/4 | 9914 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37648209 | T | TGCCCCTG others(14): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0003 | a0001c0003t0126 | a0001c0003t0126g0035 | 1 | 198 | 0.0051 | 21 | c.947 others(40): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
KCNK10_chr14_88175108_88328269 | 88213921 | T | TTTATTAT others(14): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02572.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0016a0001c0002t0082 | a0001c0001t0016g0161 a0001c0002t0082g0109 |
2 | 334 | 0.0060 | 21 | c.681 others(40): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 4/6 | chr14 | TogoVar | |||||||
KCNK10_chr14_88175108_88328269 | 88221301 | C | CAATAATA others(14): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02965.hp1 |
a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0107 a0001c0002t0023g0278 |
2 | 334 | 0.0060 | 21 | c.681 others(38): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 4/6 | chr14 | TogoVar | |||||||
KCNK13_chr14_90056994_90190853 | 90143171 | C | CTTTCTTT others(14): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01070.hp2 others(40): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0094 a0001c0001t0001g0130 a0001c0001t0001g0159 others(40): Show |
43 | 320 | 0.1344 | 21 | c.335 others(40): Show |
KCNK13 | ENSG00000152315.5 | transcript | ENST00000282146.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KCNK1_chr1_233609106_233677514 | 233628760 | A | AAATAATA others(14): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01261.hp1 HG01884.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0002g0247 others(5): Show |
8 | 422 | 0.0190 | 21 | c.355 others(40): Show |
KCNK1 | ENSG00000135750.15 | transcript | ENST00000366621.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNK1_chr1_233609106_233677514 | 233628760 | A | AAATGATA others(14): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 422 | 0.0024 | 21 | c.355 others(40): Show |
KCNK1 | ENSG00000135750.15 | transcript | ENST00000366621.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNK1_chr1_233609106_233677514 | 233662238 | C | CCTTCTTC others(14): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 422 | 0.0024 | 21 | c.356 others(38): Show |
KCNK1 | ENSG00000135750.15 | transcript | ENST00000366621.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215209463 | T | TATATAAT others(14): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 260 | 0.0039 | 21 | c.963 others(40): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNK3_chr2_26687722_26738420 | 26734712 | T | TTTATTAT others(14): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG00642.hp1 others(51): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0003 a0001c0001t0001g0041 a0001c0001t0001g0055 others(47): Show |
54 | 336 | 0.1607 | 21 | c.*61 others(32): Show |
KCNK3 | ENSG00000171303.8 | transcript | ENST00000302909.4 | protein_coding | 1293 | chr2 | TogoVar | |||||||
KCNK3_chr2_26687722_26738420 | 26734712 | T | TTTTTTAT others(14): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG02630.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 a0001c0001t0001g0141 a0001c0001t0001g0149 others(1): Show |
4 | 336 | 0.0119 | 21 | c.*61 others(32): Show |
KCNK3 | ENSG00000171303.8 | transcript | ENST00000302909.4 | protein_coding | 1293 | chr2 | TogoVar | |||||||
KCNK3_chr2_26687722_26738420 | 26735208 | A | ACACACAC others(14): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0065 | 1 | 336 | 0.0030 | 21 | c.*66 others(32): Show |
KCNK3 | ENSG00000171303.8 | transcript | ENST00000302909.4 | protein_coding | 1789 | chr2 | TogoVar | |||||||
KCNK3_chr2_26687722_26738420 | 26735236 | C | CACACACA others(14): Show |
downstream_gene_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0198 | 1 | 336 | 0.0030 | 21 | c.*66 others(32): Show |
KCNK3 | ENSG00000171303.8 | transcript | ENST00000302909.4 | protein_coding | 1817 | chr2 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77041151 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0083 | 1 | 106 | 0.0094 | 21 | c.175 others(40): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 14/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77295787 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0063 | 1 | 106 | 0.0094 | 21 | c.541 others(40): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 2/27 | chr10 | TogoVar | |||||||
KCNMB1_chr5_170369671_170394367 | 170390517 | A | AAAAAAAA others(14): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0112 | 1 | 432 | 0.0023 | 21 | c.-12 others(32): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1151 | chr5 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178691107 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00741.hp2 HG01358.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0118 others(10): Show |
13 | 232 | 0.0560 | 21 | c.-67 others(42): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759212 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0227 | 1 | 232 | 0.0043 | 21 | c.-67 others(40): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178759402 | G | GGATATAT others(14): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0184 | 1 | 232 | 0.0043 | 21 | c.-67 others(40): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178759406 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01358.hp2 HG01496.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0040 a0001c0001t0002g0091 a0001c0001t0002g0092 others(21): Show |
24 | 232 | 0.1035 | 21 | c.-67 others(40): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759841 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01496.hp1 HG02129.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0040 a0001c0001t0002g0091 a0001c0001t0002g0092 others(22): Show |
25 | 232 | 0.1078 | 21 | c.-67 others(40): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154760852 | G | GCCCGCGA others(14): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01168.hp2 HG01169.hp2 others(12): Show |
a0001a0002a0003others(4): Show | a0001c0008a0002c0002a0002c0010others(6): Show | a0001c0008t0081a0002c0002t0003a0002c0010t0088others(10): Show | a0001c0008t0081g0118 a0002c0002t0003g0137 a0002c0010t0088g0131 others(11): Show |
15 | 238 | 0.0630 | 21 | c.144 others(42): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154760858 | G | GAAGAAGC others(14): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0008 | a0008c0016 | a0008c0016t0108 | a0008c0016t0108g0207 | 1 | 238 | 0.0042 | 21 | c.144 others(42): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154869723 | G | GGCTGCTG others(14): Show |
conservative_inframe_insertion | MODERATE | HG01081.hp1 HG01517.hp2 HG01884.hp1 others(10): Show |
a0006 | a0006c0012a0006c0013a0006c0027others(1): Show | a0006c0012t0001a0006c0012t0005a0006c0012t0009others(10): Show | a0006c0012t0001g0016 a0006c0012t0005g0019 a0006c0012t0009g0015 others(10): Show |
13 | 238 | 0.0546 | 21 | c.221 others(28): 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 | 2840159 | T | TATTACAA others(14): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02486.hp1 HG02970.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0002g0111 a0001c0001t0004g0003 a0001c0001t0004g0019 others(4): Show |
7 | 208 | 0.0337 | 21 | c.179 others(40): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63442692 | T | TCACCATC others(14): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03130.hp2 |
a0001 | a0001c0002 | a0001c0002t0036 | a0001c0002t0036g0001 | 2 | 330 | 0.0061 | 21 | c.691 others(36): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar |