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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KANK1_chr9_499695_751103 | 504779 | C | CGCGCCCC others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(155): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0055a0001c0059others(40): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(61): Show | a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0156 others(155): Show |
158 | 254 | 0.6221 | 17 | c.-84 others(30): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 504782 | G | GCCCCGTG others(10): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01257.hp2 HG01258.hp1 others(21): Show |
a0001a0004a0005others(9): Show | a0001c0001a0004c0011a0005c0004others(12): Show | a0001c0001t0003a0001c0001t0004a0004c0011t0001others(15): Show | a0001c0001t0003g0221 a0001c0001t0004g0227 a0004c0011t0001g0216 others(21): Show |
24 | 254 | 0.0945 | 17 | c.-84 others(30): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 504875 | T | TTGCGCGG others(10): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0059 | 1 | 254 | 0.0039 | 17 | c.-84 others(32): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 671623 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02080.hp2 NA18522.hp1 |
a0002a0006 | a0002c0002a0006c0031 | a0002c0002t0002a0006c0031t0002 | a0002c0002t0002g0175 a0006c0031t0002g0004 |
2 | 254 | 0.0079 | 17 | c.-83 others(34): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 671623 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00558.hp1 others(59): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0059a0001c0062others(21): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(24): Show | a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0040 others(59): Show |
62 | 254 | 0.2441 | 17 | c.-83 others(34): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KANK3_chr19_8317584_8348262 | 8346368 | A | AAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 | a0005 | a0005c0005 | a0005c0005t0003 | a0005c0005t0003g0022 | 1 | 406 | 0.0025 | 17 | c.-31 others(28): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 3107 | chr19 | TogoVar | |||||||
KANK4_chr1_62231165_62324434 | 62254455 | T | TGCCAATA others(10): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(96): Show |
a0001a0002a0003others(9): Show | a0001c0004a0001c0027a0002c0001others(18): Show | a0001c0004t0001a0001c0027t0003a0002c0001t0001others(33): Show | a0001c0004t0001g0170 a0001c0027t0003g0155 a0002c0001t0001g0017 others(96): Show |
99 | 322 | 0.3075 | 17 | c.254 others(36): Show |
KANK4 | ENSG00000132854.19 | transcript | ENST00000371153.9 | protein_coding | 7/9 | chr1 | TogoVar | |||||||
KANK4_chr1_62231165_62324434 | 62276753 | G | GTGCACCA others(10): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG01109.hp1 others(24): Show |
a0001a0004a0005others(2): Show | a0001c0021a0001c0058a0004c0012others(4): Show | a0001c0021t0002a0001c0021t0015a0001c0058t0004others(9): Show | a0001c0021t0002g0214 a0001c0021t0002g0217 a0001c0021t0015g0221 others(24): Show |
27 | 322 | 0.0839 | 17 | c.17- others(32): Show |
KANK4 | ENSG00000132854.19 | transcript | ENST00000371153.9 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46052964 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 321 | 0.0031 | 17 | c.184 others(36): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 6/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46096311 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0232 | 1 | 321 | 0.0031 | 17 | c.129 others(36): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46106828 | G | GAACTGAG others(10): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01074.hp2 others(19): Show |
a0003 | a0003c0004 | a0003c0004t0005a0003c0004t0024a0003c0004t0025 | a0003c0004t0005g0301 a0003c0004t0005g0302 a0003c0004t0005g0303 others(19): Show |
22 | 321 | 0.0685 | 17 | c.129 others(38): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46112724 | A | ATTTTTAT others(10): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01074.hp2 others(17): Show |
a0003 | a0003c0004 | a0003c0004t0005a0003c0004t0024 | a0003c0004t0005g0301 a0003c0004t0005g0302 a0003c0004t0005g0303 others(17): Show |
20 | 321 | 0.0623 | 17 | c.129 others(38): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46112725 | T | TTTTTATT others(10): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0003 | a0003c0004 | a0003c0004t0025 | a0003c0004t0025g0321 | 1 | 321 | 0.0031 | 17 | c.129 others(38): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46112727 | T | TTTATTTA others(10): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0308 | 1 | 321 | 0.0031 | 17 | c.129 others(38): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46130187 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01952.hp2 |
a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0305 a0003c0004t0005g0318 |
2 | 321 | 0.0062 | 17 | c.129 others(38): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46189906 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0003 | a0003c0004 | a0003c0004t0025 | a0003c0004t0025g0321 | 1 | 321 | 0.0031 | 17 | c.-90 others(34): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
KANSL3_chr2_96588172_96643312 | 96615165 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 340 | 0.0029 | 17 | c.664 others(34): Show |
KANSL3 | ENSG00000114982.19 | transcript | ENST00000431828.6 | protein_coding | 5/20 | chr2 | TogoVar | |||||||
KARS1_chr16_75622724_75652665 | 75624133 | A | ATATATAT others(10): Show |
downstream_gene_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 380 | 0.0026 | 17 | c.*37 others(28): Show |
KARS1 | ENSG00000065427.15 | transcript | ENST00000302445.8 | protein_coding | 3590 | chr16 | TogoVar | |||||||
KARS1_chr16_75622724_75652665 | 75624133 | A | ATATATAT others(10): Show |
downstream_gene_variant | MODIFIER | HG03239.hp1 NA18945.hp1 NA18945.hp2 others(8): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0020 others(8): Show |
11 | 380 | 0.0290 | 17 | c.*37 others(28): Show |
KARS1 | ENSG00000065427.15 | transcript | ENST00000302445.8 | protein_coding | 3590 | chr16 | TogoVar | |||||||
KARS1_chr16_75622724_75652665 | 75624133 | A | ATATATAT others(10): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 HG01952.hp2 HG01978.hp1 others(8): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0127 others(6): Show |
11 | 380 | 0.0290 | 17 | c.*37 others(28): Show |
KARS1 | ENSG00000065427.15 | transcript | ENST00000302445.8 | protein_coding | 3590 | chr16 | TogoVar | |||||||
KARS1_chr16_75622724_75652665 | 75624133 | A | ATATATAT others(10): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 HG00642.hp2 HG03017.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 others(4): Show |
7 | 380 | 0.0184 | 17 | c.*37 others(28): Show |
KARS1 | ENSG00000065427.15 | transcript | ENST00000302445.8 | protein_coding | 3590 | chr16 | TogoVar | |||||||
KARS1_chr16_75622724_75652665 | 75624133 | A | ATATATAT others(10): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 NA18950.hp2 NA18991.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0035 a0001c0001t0001g0159 others(1): Show |
4 | 380 | 0.0105 | 17 | c.*37 others(28): Show |
KARS1 | ENSG00000065427.15 | transcript | ENST00000302445.8 | protein_coding | 3590 | chr16 | TogoVar | |||||||
KARS1_chr16_75622724_75652665 | 75624134 | T | TATATATA others(10): Show |
downstream_gene_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 380 | 0.0026 | 17 | c.*37 others(28): Show |
KARS1 | ENSG00000065427.15 | transcript | ENST00000302445.8 | protein_coding | 3589 | chr16 | TogoVar | |||||||
KAT2B_chr3_20035446_20159404 | 20149495 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01952.hp2 HG01993.hp2 HG02135.hp1 others(13): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0006 a0001c0001t0001g0079 a0001c0001t0001g0100 others(13): Show |
16 | 374 | 0.0428 | 17 | c.230 others(36): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KAT5_chr11_65707252_65724604 | 65721003 | T | TCTCCTTC others(10): Show |
downstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 442 | 0.0023 | 17 | c.*18 others(28): Show |
KAT5 | ENSG00000172977.13 | transcript | ENST00000341318.9 | protein_coding | 1400 | chr11 | TogoVar | |||||||
KAT6A_chr8_41924479_42056987 | 41967274 | A | AAATTTAT others(10): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00741.hp2 HG01106.hp2 others(23): Show |
a0001 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0003a0001c0001t0029a0001c0003t0004others(9): Show | a0001c0001t0003g0043 a0001c0001t0003g0045 a0001c0001t0003g0063 others(23): Show |
26 | 374 | 0.0695 | 17 | c.148 others(36): Show |
KAT6A | ENSG00000083168.11 | transcript | ENST00000265713.8 | protein_coding | 8/16 | chr8 | TogoVar | |||||||
KAT6A_chr8_41924479_42056987 | 42054250 | A | ATATATAT others(10): Show |
upstream_gene_variant | MODIFIER | HG03579.hp2 NA18948.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0091 | a0001c0001t0003g0082 a0001c0003t0091g0288 |
2 | 374 | 0.0054 | 17 | c.-26 others(28): Show |
KAT6A | ENSG00000083168.11 | transcript | ENST00000265713.8 | protein_coding | 2264 | chr8 | TogoVar | |||||||
KAT6A_chr8_41924479_42056987 | 42054252 | A | ATATATAT others(10): Show |
upstream_gene_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0073 | 1 | 374 | 0.0027 | 17 | c.-26 others(28): Show |
KAT6A | ENSG00000083168.11 | transcript | ENST00000265713.8 | protein_coding | 2266 | chr8 | TogoVar | |||||||
KAT6B_chr10_74821600_75037624 | 74830769 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 236 | 0.0042 | 17 | c.-32 others(36): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 1/17 | chr10 | TogoVar | |||||||
KATNA1_chr6_149589873_149653714 | 149609802 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00621.hp1 HG00735.hp1 others(74): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0023 others(73): Show |
77 | 296 | 0.2601 | 17 | c.502 others(34): Show |
KATNA1 | ENSG00000186625.14 | transcript | ENST00000367411.7 | protein_coding | 4/10 | chr6 | TogoVar | |||||||
KATNA1_chr6_149589873_149653714 | 149613179 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03453.hp2 HG03486.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0085 a0001c0001t0001g0132 a0001c0001t0001g0234 others(3): Show |
6 | 296 | 0.0203 | 17 | c.502 others(34): Show |
KATNA1 | ENSG00000186625.14 | transcript | ENST00000367411.7 | protein_coding | 4/10 | chr6 | TogoVar | |||||||
KATNBL1_chr15_34135674_34215096 | 34137036 | G | GAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG01169.hp2 HG02486.hp2 HG03130.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0026 a0001c0001t0001g0036 a0001c0001t0001g0040 others(6): Show |
9 | 344 | 0.0262 | 17 | c.*53 others(28): Show |
KATNBL1 | ENSG00000134152.11 | transcript | ENST00000256544.8 | protein_coding | 3637 | chr15 | TogoVar | |||||||
KATNBL1_chr15_34135674_34215096 | 34188137 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01943.hp2 NA18944.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 a0001c0001t0001g0092 a0001c0001t0001g0153 others(3): Show |
6 | 344 | 0.0174 | 17 | c.-15 others(36): Show |
KATNBL1 | ENSG00000134152.11 | transcript | ENST00000256544.8 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
KAZN_chr1_14593685_15123043 | 14695510 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0113 | 1 | 146 | 0.0069 | 17 | c.226 others(36): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14896041 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0045 | 1 | 146 | 0.0069 | 17 | c.227 others(36): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14914851 | C | CACTTACA others(10): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(40): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0001c0012others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0052 a0001c0001t0001g0067 a0001c0001t0001g0075 others(40): Show |
43 | 146 | 0.2945 | 17 | c.227 others(36): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 15050159 | G | GATAGATA others(10): Show |
intron_variant | MODIFIER | HG02738.hp2 HG02809.hp2 HG06807.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0003t0002others(2): Show | a0001c0001t0002g0122 a0001c0001t0005g0014 a0001c0003t0002g0002 others(3): Show |
6 | 146 | 0.0411 | 17 | c.727 others(34): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 4/14 | chr1 | TogoVar | |||||||
KAZN_chr1_14593685_15123043 | 15111271 | T | TTGTTGTT others(10): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0037 | 1 | 146 | 0.0069 | 17 | c.204 others(36): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KBTBD11_chr8_1968677_2011936 | 1993948 | C | CACACACA others(10): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 389 | 0.0026 | 17 | c.-90 others(36): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
KCNAB1_chr3_156115578_156543605 | 156143569 | G | GTTTTTTG others(10): Show |
intron_variant | MODIFIER | HG02738.hp1 HG02965.hp2 NA18522.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0009a0003c0005 | a0001c0001t0001a0001c0009t0002a0003c0005t0001 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0009t0002g0005 others(1): Show |
4 | 124 | 0.0323 | 17 | c.275 others(36): Show |
KCNAB1 | ENSG00000169282.19 | transcript | ENST00000490337.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNAB1_chr3_156115578_156543605 | 156143575 | T | TGTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02965.hp1 HG03471.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0003 | a0001c0001t0001g0117 a0001c0001t0004g0116 a0001c0002t0003g0120 |
3 | 124 | 0.0242 | 17 | c.275 others(36): Show |
KCNAB1 | ENSG00000169282.19 | transcript | ENST00000490337.6 | protein_coding | 1/13 | chr3 | TogoVar | |||||||
KCNAB1_chr3_156115578_156543605 | 156338303 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01106.hp1 NA18954.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0038 |
2 | 124 | 0.0161 | 17 | c.276 others(36): Show |
KCNAB1 | ENSG00000169282.19 | transcript | ENST00000490337.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNAB1_chr3_156115578_156543605 | 156387014 | C | CTCTTTTT others(10): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02055.hp1 HG02280.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0006a0001c0002t0002others(2): Show | a0001c0001t0001g0123 a0001c0001t0006g0102 a0001c0002t0002g0109 others(2): Show |
5 | 124 | 0.0403 | 17 | c.276 others(36): Show |
KCNAB1 | ENSG00000169282.19 | transcript | ENST00000490337.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNAB2_chr1_6040888_6106180 | 6102453 | G | GCCTCGGC others(10): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0041 | 1 | 360 | 0.0028 | 17 | c.*38 others(28): Show |
KCNAB2 | ENSG00000069424.16 | transcript | ENST00000378083.8 | protein_coding | 1274 | chr1 | TogoVar | |||||||
KCNB1_chr20_49358877_49487668 | 49425670 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0034 | a0001c0001t0006g0169 a0001c0001t0034g0233 |
2 | 278 | 0.0072 | 17 | c.568 others(36): Show |
KCNB1 | ENSG00000158445.10 | transcript | ENST00000371741.6 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
KCNB1_chr20_49358877_49487668 | 49425670 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01175.hp1 HG01257.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0021others(1): Show | a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0002g0144 others(3): Show |
6 | 278 | 0.0216 | 17 | c.568 others(36): Show |
KCNB1 | ENSG00000158445.10 | transcript | ENST00000371741.6 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
KCNB2_chr8_72532225_72943349 | 72851826 | G | GAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02630.hp1 HG03209.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0005 a0001c0001t0001g0105 a0001c0001t0001g0120 others(8): Show |
11 | 164 | 0.0671 | 17 | c.580 others(36): Show |
KCNB2 | ENSG00000182674.6 | transcript | ENST00000523207.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
KCNC2_chr12_75035078_75214839 | 75071937 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0089 | 1 | 316 | 0.0032 | 17 | c.688 others(36): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
KCNC2_chr12_75035078_75214839 | 75086673 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 316 | 0.0032 | 17 | c.688 others(36): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
KCNC2_chr12_75035078_75214839 | 75086679 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | NA18963.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0110 |
2 | 316 | 0.0063 | 17 | c.688 others(36): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar |