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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNIP4_chr4_20723606_21953772 | 21466035 | G | GTACTATG others(2): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02280.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(1): Show | a0001c0001t0001g0037a0001c0001t0001g0054a0001c0001t0001g0068others(5): Show | 8 | 80 | 0.1000 | 9 | c.61+ others(28): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21485962 | A | AGCTCACC others(2): Show |
intron_variant | MODIFIER | HG01517.hp1 HG02647.hp2 HG02886.hp2 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0042a0001c0001t0001g0044a0001c0001t0001g0070others(5): Show | 8 | 80 | 0.1000 | 9 | c.61+ others(28): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21720013 | A | AAGAAGAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG02055.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0017a0001c0001t0001g0070a0001c0001t0001g0075others(13): Show | 16 | 80 | 0.2000 | 9 | c.61+ others(28): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNJ15_chr21_38251991_38312357 | 38288026 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01928.hp1 HG01952.hp2 others(9): Show |
a0002a0005 | a0002c0002a0005c0006 | a0002c0002t0003a0002c0002t0006a0002c0002t0008others(3): Show | a0002c0002t0003g0066a0002c0002t0003g0078a0002c0002t0003g0079others(9): Show | 12 | 406 | 0.0296 | 9 | c.-11 others(28): Show |
KCNJ15 | ENSG00000157551.19 | transcript | ENST00000398938.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
KCNJ16_chr17_70070225_70140608 | 70103286 | A | ATGTGTGA others(2): Show |
intron_variant | MODIFIER | HG01993.hp1 NA18964.hp1 NA18973.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0017a0001c0001t0001g0238a0001c0001t0001g0241others(3): Show | 6 | 330 | 0.0182 | 9 | c.-19 others(28): Show |
KCNJ16 | ENSG00000153822.15 | transcript | ENST00000392671.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
KCNJ18_chr17_21687523_21709612 | 21688239 | A | AACCAGAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG01517.hp1 HG01517.hp2 others(39): Show |
a0002a0010a0011others(2): Show | a0002c0002a0002c0005a0010c0010others(3): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0008others(7): Show | a0002c0002t0002g0003a0002c0002t0002g0007a0002c0002t0002g0020others(25): Show | 42 | 112 | 0.3750 | 9 | c.-46 others(20): Show |
KCNJ18 | ENSG00000260458.3 | transcript | ENST00000567955.3 | protein_coding | 4283 | chr17 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128836083 | T | TCCCACCC others(2): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG01069.hp2 HG01074.hp1 others(24): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0034others(19): Show | 27 | 301 | 0.0897 | 9 | c.*30 others(20): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 1936 | chr11 | TogoVar | ||||||
KCNJ2_chr17_70164532_70185044 | 70174872 | C | CAGTAGTC others(2): Show |
5_prime_UTR_variant | MODIFIER | HG02622.hp2 HG02809.hp2 HG02818.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0039a0001c0001t0077others(3): Show | a0001c0001t0025g0013a0001c0001t0039g0013a0001c0001t0039g0033others(4): Show | 10 | 448 | 0.0223 | 9 | c.-16 others(18): Show |
KCNJ2 | ENSG00000123700.5 | transcript | ENST00000243457.4 | protein_coding | 2/2 | 162 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||
KCNJ3_chr2_154693695_154863354 | 154834669 | C | CAGTGAGC others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00558.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0009a0001c0001t0041a0001c0002t0010others(11): Show | a0001c0001t0009g0281a0001c0001t0041g0191a0001c0002t0010g0068others(28): Show | 31 | 284 | 0.1092 | 9 | c.920 others(28): Show |
KCNJ3 | ENSG00000162989.5 | transcript | ENST00000295101.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KCNJ6_chr21_37602373_37921457 | 37661614 | G | GTTCTTTT others(2): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG02572.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0050a0001c0001t0138a0001c0001t0166others(4): Show | a0001c0001t0050g0018a0001c0001t0138g0019a0001c0001t0166g0146others(4): Show | 7 | 198 | 0.0354 | 9 | c.947 others(28): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37667154 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01175.hp1 HG01257.hp2 others(19): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0018a0001c0001t0024a0001c0001t0029others(19): Show | a0001c0001t0018g0104a0001c0001t0024g0083a0001c0001t0029g0075others(19): Show | 22 | 198 | 0.1111 | 9 | c.947 others(28): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37685706 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG02572.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0138a0001c0001t0168a0001c0001t0169others(2): Show | a0001c0001t0138g0019a0001c0001t0168g0099a0001c0001t0169g0166others(2): Show | 5 | 198 | 0.0253 | 9 | c.946 others(28): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37769412 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02622.hp1 HG02647.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0020a0001c0001t0063a0001c0001t0095others(3): Show | a0001c0001t0020g0023a0001c0001t0063g0149a0001c0001t0095g0138others(3): Show | 6 | 198 | 0.0303 | 9 | c.26- others(26): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 2/3 | chr21 | TogoVar | ||||||
KCNJ9_chr1_160076538_160095563 | 160077926 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG01074.hp1 others(51): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(18): Show | 54 | 430 | 0.1256 | 9 | c.-38 others(20): Show |
KCNJ9 | ENSG00000162728.5 | transcript | ENST00000368088.4 | protein_coding | 3611 | chr1 | TogoVar | ||||||
KCNK10_chr14_88175108_88328269 | 88213921 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00673.hp2 HG00738.hp2 HG01074.hp1 others(35): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0011a0001c0001t0031a0001c0001t0051others(15): Show | a0001c0001t0011g0156a0001c0001t0011g0162a0001c0001t0011g0163others(35): Show | 38 | 334 | 0.1138 | 9 | c.681 others(28): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 4/6 | chr14 | TogoVar | ||||||
KCNK10_chr14_88175108_88328269 | 88221301 | C | CAATAATA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00597.hp2 others(103): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0031a0001c0001t0051others(35): Show | a0001c0001t0002g0220a0001c0001t0031g0323a0001c0001t0051g0014others(103): Show | 106 | 334 | 0.3174 | 9 | c.681 others(26): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 4/6 | chr14 | TogoVar | ||||||
KCNK13_chr14_90056994_90190853 | 90157702 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00621.hp2 others(109): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0013others(109): Show | 112 | 320 | 0.3500 | 9 | c.335 others(28): 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(2): Show |
intron_variant | MODIFIER | HG03540.hp1 HG03579.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0208a0001c0001t0002g0218a0001c0001t0009g0097 | 3 | 422 | 0.0071 | 9 | c.355 others(28): 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(2): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01192.hp2 HG02055.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0168a0001c0001t0001g0174a0001c0001t0001g0180others(3): Show | 6 | 422 | 0.0142 | 9 | c.356 others(26): Show |
KCNK1 | ENSG00000135750.15 | transcript | ENST00000366621.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KCNK2_chr1_215077737_215242090 | 215210003 | T | TTTTATAT others(2): Show |
intron_variant | MODIFIER | HG01081.hp2 HG03239.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0007 | a0001c0001t0003g0075a0001c0001t0005g0069a0001c0001t0007g0048 | 3 | 260 | 0.0115 | 9 | c.963 others(28): 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(2): Show |
downstream_gene_variant | MODIFIER | HG01123.hp1 HG02258.hp1 HG02886.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013a0001c0001t0042 | a0001c0001t0002g0024a0001c0001t0002g0228a0001c0001t0002g0241others(2): Show | 5 | 336 | 0.0149 | 9 | c.*61 others(20): Show |
KCNK3 | ENSG00000171303.8 | transcript | ENST00000302909.4 | protein_coding | 1293 | chr2 | TogoVar | ||||||
KCNK5_chr6_39183971_39234475 | 39217118 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02055.hp2 HG02451.hp2 others(5): Show |
a0001a0006 | a0001c0001a0001c0004a0001c0013others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(4): Show | a0001c0001t0001g0154a0001c0001t0001g0159a0001c0001t0004g0318others(5): Show | 8 | 424 | 0.0189 | 9 | c.186 others(28): Show |
KCNK5 | ENSG00000164626.9 | transcript | ENST00000359534.4 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
KCNMA1_chr10_76879882_77642808 | 77134997 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01081.hp1 HG01081.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(7): Show | a0001c0001t0002g0069a0001c0002t0001g0002a0001c0002t0002g0009others(10): Show | 13 | 106 | 0.1226 | 9 | c.809 others(28): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 5/27 | chr10 | TogoVar | ||||||
KCNMA1_chr10_76879882_77642808 | 77295787 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01258.hp1 HG02559.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0016others(2): Show | a0001c0001t0003g0016a0001c0001t0003g0029a0001c0001t0005g0072others(4): Show | 7 | 106 | 0.0660 | 9 | c.541 others(28): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 2/27 | chr10 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178595059 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01169.hp2 HG02109.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0200a0001c0001t0002g0076a0001c0001t0002g0080others(9): Show | 12 | 232 | 0.0517 | 9 | c.-68 others(28): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178655095 | C | CTCTCTCT others(2): Show |
intron_variant | MODIFIER | HG02004.hp1 NA18998.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0183a0001c0002t0001g0071 | 2 | 232 | 0.0086 | 9 | c.-68 others(30): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178691107 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00642.hp2 HG00673.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0101a0001c0001t0001g0200a0001c0001t0002g0156others(30): Show | 33 | 232 | 0.1422 | 9 | c.-67 others(30): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178758872 | G | GATATATA others(2): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03209.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0217a0001c0002t0001g0226 | 2 | 232 | 0.0086 | 9 | c.-67 others(28): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759089 | G | GGATATAT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 NA18747.hp1 NA18949.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0004a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0004g0185a0001c0002t0001g0055a0001c0002t0001g0134others(3): Show | 6 | 232 | 0.0259 | 9 | c.-67 others(28): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759114 | G | GGATATAT others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01346.hp1 HG01358.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0002t0001 | a0001c0001t0003g0126a0001c0001t0004g0007a0001c0001t0004g0078others(8): Show | 11 | 232 | 0.0474 | 9 | c.-67 others(28): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759137 | G | GGTGATTG others(2): Show |
intron_variant | MODIFIER | HG01169.hp2 HG03130.hp1 HG03834.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0002t0001 | a0001c0001t0003g0163a0001c0001t0004g0160a0001c0002t0001g0195 | 3 | 232 | 0.0129 | 9 | 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 | 178759139 | G | GGATATAT others(2): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01515.hp1 HG03017.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0122a0001c0001t0003g0130a0001c0001t0003g0177others(1): Show | 4 | 232 | 0.0172 | 9 | c.-67 others(28): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759292 | G | GGATATAT others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02622.hp2 NA18963.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0062a0001c0001t0003g0173a0001c0001t0003g0211others(1): Show | 4 | 232 | 0.0172 | 9 | c.-67 others(28): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759316 | G | GGATATAT others(2): Show |
intron_variant | MODIFIER | HG01358.hp2 HG01496.hp1 HG01978.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0040a0001c0001t0002g0091a0001c0001t0002g0092others(16): Show | 19 | 232 | 0.0819 | 9 | c.-67 others(28): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759344 | G | GGATATAT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01261.hp2 HG02257.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0004a0001c0001t0002g0113a0001c0001t0002g0149others(11): Show | 14 | 232 | 0.0603 | 9 | c.-67 others(28): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759372 | G | GGATATAT others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02647.hp2 HG02723.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0113a0001c0001t0003g0064a0001c0001t0003g0069others(3): Show | 6 | 232 | 0.0259 | 9 | c.-67 others(28): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759444 | T | TTCAAGAG others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG03834.hp2 NA18747.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0055a0001c0002t0001g0195a0001c0002t0002g0053 | 3 | 232 | 0.0129 | 9 | c.-67 others(28): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759552 | G | GGATATAT others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01069.hp2 HG01515.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0122a0001c0001t0003g0127a0001c0001t0003g0130others(9): Show | 12 | 232 | 0.0517 | 9 | c.-67 others(28): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759662 | G | GATATATA others(2): Show |
intron_variant | MODIFIER | HG03942.hp2 NA18949.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0069a0001c0001t0003g0176 | 2 | 232 | 0.0086 | 9 | c.-67 others(28): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154869723 | G | GGCTGCTG others(2): Show |
conservative_inframe_insertion | MODERATE | HG00735.hp1 HG00738.hp1 HG00738.hp2 others(32): Show |
a0003 | a0003c0003a0003c0007a0003c0028 | a0003c0003t0001a0003c0003t0003a0003c0003t0006others(27): Show | a0003c0003t0001g0169a0003c0003t0001g0183a0003c0003t0003g0185others(32): Show | 35 | 238 | 0.1471 | 9 | c.233 others(16): 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 | 2445250 | A | ACGCGCCC others(2): Show |
conservative_inframe_insertion | MODERATE | HG02258.hp1 HG03041.hp2 HG03225.hp1 others(1): Show |
a0003 | a0003c0006a0003c0010 | a0003c0006t0001a0003c0006t0004a0003c0006t0010others(1): Show | a0003c0006t0001g0008a0003c0006t0004g0011a0003c0006t0010g0012others(1): Show | 4 | 208 | 0.0192 | 9 | c.160 others(16): Show |
p.Ile others(11): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 1/16 | 260/3224 | 169/2031 | 57/676 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
KCNQ1_chr11_2440008_2854105 | 2523751 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG02622.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0001t0001g0156others(3): Show | 6 | 208 | 0.0289 | 9 | c.387 others(26): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KCNQ1_chr11_2440008_2854105 | 2733857 | C | CTTTCTCT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00639.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0020a0001c0001t0001g0039a0001c0001t0001g0096others(11): Show | 14 | 208 | 0.0673 | 9 | c.151 others(30): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 11/15 | chr11 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63442671 | C | CCACCACC others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01167.hp2 others(40): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0012others(3): Show | a0001c0002t0005a0001c0002t0009a0001c0002t0010others(23): Show | a0001c0002t0005g0021a0001c0002t0005g0022a0001c0002t0005g0045others(40): Show | 43 | 330 | 0.1303 | 9 | c.691 others(24): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63442671 | C | CCATCACC others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00597.hp2 others(57): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0001c0022others(6): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0010others(27): Show | a0001c0002t0002g0123a0001c0002t0003g0304a0001c0002t0010g0118others(57): Show | 60 | 330 | 0.1818 | 9 | c.691 others(24): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63442779 | C | CCATCACC others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01099.hp2 HG01175.hp1 others(11): Show |
a0001a0002 | a0001c0002a0002c0001a0002c0011 | a0001c0002t0073a0002c0001t0001a0002c0001t0005others(4): Show | a0001c0002t0073g0020a0002c0001t0001g0149a0002c0001t0005g0089others(10): Show | 14 | 330 | 0.0424 | 9 | c.691 others(24): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63442830 | T | TCACCACC others(2): Show |
intron_variant | MODIFIER | HG02698.hp2 HG03017.hp1 HG03669.hp1 others(7): Show |
a0001 | a0001c0007a0001c0014 | a0001c0007t0007a0001c0007t0044a0001c0014t0007others(1): Show | a0001c0007t0007g0227a0001c0007t0007g0229a0001c0007t0007g0232others(7): Show | 10 | 330 | 0.0303 | 9 | c.691 others(24): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63442902 | C | CCACCACC others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00735.hp2 others(21): Show |
a0001a0002 | a0001c0002a0001c0016a0002c0001others(1): Show | a0001c0002t0002a0001c0002t0023a0001c0002t0054others(9): Show | a0001c0002t0002g0136a0001c0002t0002g0138a0001c0002t0002g0139others(21): Show | 24 | 330 | 0.0727 | 9 | c.691 others(24): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | ||||||
KCNQ3_chr8_132115861_132486095 | 132187855 | A | ATAGTGAT others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG01934.hp2 others(28): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(26): Show | a0001c0001t0003g0157a0001c0001t0004g0061a0001c0001t0007g0171others(28): Show | 31 | 176 | 0.1761 | 9 | c.387 others(26): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | ||||||
KCNQ3_chr8_132115861_132486095 | 132224081 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG01169.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0001c0001t0039a0001c0001t0042others(8): Show | a0001c0001t0007g0171a0001c0001t0039g0030a0001c0001t0042g0027others(8): Show | 11 | 176 | 0.0625 | 9 | c.387 others(28): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar |