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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KARS1_chr16_75622724_75652665 | 75624133 | A | ATATATAT others(16): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 NA19001.hp2 |
a0001a0004 | a0001c0011a0004c0005 | a0001c0011t0001a0004c0005t0001 | a0001c0011t0001g0128 a0004c0005t0001g0131 |
2 | 72 | 0.0278 | 23 | c.*37 others(34): Show |
KARS1 | ENSG00000065427.15 | transcript | ENST00000302445.8 | protein_coding | 3590 | chr16 | TogoVar | |||||||
KARS1_chr16_75622724_75652665 | 75624133 | A | ATATATAT others(16): Show |
downstream_gene_variant | MODIFIER | HG03831.hp1 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 a0001c0001t0001g0179 |
2 | 72 | 0.0278 | 23 | c.*37 others(34): Show |
KARS1 | ENSG00000065427.15 | transcript | ENST00000302445.8 | protein_coding | 3590 | chr16 | TogoVar | |||||||
KAT2B_chr3_20035446_20159404 | 20061919 | T | TTATATAT others(16): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00438.hp1 others(75): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0005a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(72): Show |
78 | 313 | 0.2492 | 23 | c.304 others(42): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20061982 | A | AACATAAT others(16): Show |
intron_variant | MODIFIER | NA18953.hp2 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 a0001c0001t0002g0069 |
2 | 316 | 0.0063 | 23 | c.304 others(42): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20062104 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01891.hp1 HG02109.hp2 others(25): Show |
a0001a0003a0007 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0003others(6): Show | a0001c0001t0002g0206 a0001c0001t0002g0211 a0001c0002t0002g0034 others(25): Show |
28 | 320 | 0.0875 | 23 | c.304 others(42): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20092235 | A | ATTTATTT others(16): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00735.hp1 others(24): Show |
a0001a0005a0006 | a0001c0004a0001c0007a0005c0014others(1): Show | a0001c0004t0001a0001c0004t0003a0001c0004t0004others(5): Show | a0001c0004t0001g0074 a0001c0004t0001g0094 a0001c0004t0001g0161 others(24): Show |
27 | 248 | 0.1089 | 23 | c.431 others(40): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20092236 | T | TTTATTTA others(16): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0037 | 1 | 250 | 0.0040 | 23 | c.431 others(40): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20149495 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02965.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0086 a0001c0001t0002g0061 a0001c0001t0004g0026 |
3 | 47 | 0.0638 | 23 | c.230 others(42): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KAT6A_chr8_41924479_42056987 | 42054262 | A | AAAAAAAT others(16): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0123 | 1 | 111 | 0.0090 | 23 | c.-26 others(34): Show |
KAT6A | ENSG00000083168.11 | transcript | ENST00000265713.8 | protein_coding | 2276 | chr8 | TogoVar | |||||||
KAT6A_chr8_41924479_42056987 | 42054262 | A | AAAAATAT others(16): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 HG02965.hp1 |
a0001 | a0001c0005 | a0001c0005t0014 | a0001c0005t0014g0120 a0001c0005t0014g0121 |
2 | 112 | 0.0179 | 23 | c.-26 others(34): Show |
KAT6A | ENSG00000083168.11 | transcript | ENST00000265713.8 | protein_coding | 2276 | chr8 | TogoVar | |||||||
KATNBL1_chr15_34135674_34215096 | 34195693 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03225.hp2 HG03471.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0023 others(1): Show |
4 | 341 | 0.0117 | 23 | c.-15 others(42): Show |
KATNBL1 | ENSG00000134152.11 | transcript | ENST00000256544.8 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
KAZN_chr1_14593685_15123043 | 14638581 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03041.hp2 HG03195.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0010a0002c0002t0001 | a0001c0001t0010g0131 a0002c0002t0001g0013 a0002c0002t0001g0126 others(1): Show |
4 | 136 | 0.0294 | 23 | c.226 others(42): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14695510 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0143 | 1 | 64 | 0.0156 | 23 | c.226 others(42): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14883318 | A | AGAGAGAG others(16): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0098 | 1 | 77 | 0.0130 | 23 | c.227 others(42): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | chr1 | TogoVar | |||||||
KAZN_chr1_14593685_15123043 | 14883341 | A | AGAGAGAG others(16): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0029 | 1 | 132 | 0.0076 | 23 | c.227 others(42): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14883347 | A | AGAGAGAG others(16): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0074 | 1 | 141 | 0.0071 | 23 | c.227 others(42): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | chr1 | TogoVar | |||||||
KAZN_chr1_14593685_15123043 | 14883355 | A | AGGGAGAG others(16): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0062 | 1 | 40 | 0.0250 | 23 | c.227 others(42): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | chr1 | TogoVar | |||||||
KAZN_chr1_14593685_15123043 | 15036403 | C | CACCCAGC others(16): Show |
intron_variant | MODIFIER | HG02717.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0044 a0001c0001t0005g0014 |
2 | 146 | 0.0137 | 23 | c.555 others(40): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNB1_chr20_49358877_49487668 | 49425670 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02257.hp2 HG02895.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0052a0001c0001t0065others(6): Show | a0001c0001t0002g0171 a0001c0001t0052g0118 a0001c0001t0065g0241 others(6): Show |
9 | 133 | 0.0677 | 23 | c.568 others(42): Show |
KCNB1 | ENSG00000158445.10 | transcript | ENST00000371741.6 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
KCNC2_chr12_75035078_75214839 | 75086671 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0075 | 1 | 312 | 0.0032 | 23 | c.688 others(42): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
KCNC2_chr12_75035078_75214839 | 75138979 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02145.hp1 NA18946.hp1 NA18953.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0008 | a0001c0001t0001g0041 a0001c0001t0001g0051 a0001c0001t0001g0157 others(2): Show |
5 | 63 | 0.0794 | 23 | c.687 others(42): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
KCNG3_chr2_42437017_42498982 | 42452243 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0234 | 1 | 144 | 0.0069 | 23 | c.666 others(40): Show |
KCNG3 | ENSG00000171126.8 | transcript | ENST00000306078.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 210806830 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 1 | 112 | 0.0089 | 23 | c.146 others(42): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
KCNH7_chr2_162366407_162843767 | 162429383 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02615.hp2 HG02895.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0033 a0001c0001t0001g0040 others(2): Show |
5 | 8 | 0.6250 | 23 | c.195 others(42): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 8/15 | chr2 | TogoVar | |||||||
KCNIP1_chr5_170499020_170741632 | 170568648 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03540.hp2 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0209 a0001c0001t0003g0025 a0001c0001t0005g0043 |
3 | 28 | 0.1071 | 23 | c.61+ others(40): Show |
KCNIP1 | ENSG00000182132.15 | transcript | ENST00000328939.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 20988000 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0077 | 1 | 29 | 0.0345 | 23 | c.62- others(42): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21015550 | A | AATTAATA others(16): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 80 | 0.0125 | 23 | c.62- others(42): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21234023 | T | TAACACAT others(16): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 80 | 0.0125 | 23 | c.62- others(42): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21234072 | C | CATAACAT others(16): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0053 | 1 | 67 | 0.0149 | 23 | c.62- others(42): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21234127 | T | TATATAAC others(16): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02886.hp2 HG02896.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0004g0025 others(4): Show |
7 | 80 | 0.0875 | 23 | c.62- others(42): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21320964 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02572.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0014 |
2 | 30 | 0.0667 | 23 | c.62- others(42): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21400465 | T | TTTCTCCT others(16): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03098.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0056 a0001c0001t0001g0068 a0001c0001t0005g0072 |
3 | 41 | 0.0732 | 23 | c.62- others(42): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNJ15_chr21_38251991_38312357 | 38256380 | A | ATATATAT others(16): Show |
upstream_gene_variant | MODIFIER | NA18979.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0050 | 1 | 404 | 0.0025 | 23 | c.-92 others(32): Show |
KCNJ15 | ENSG00000157551.19 | transcript | ENST00000398938.7 | protein_coding | 610 | chr21 | TogoVar | |||||||
KCNJ3_chr2_154693695_154863354 | 154835421 | T | TATATGAA others(16): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01346.hp1 HG01361.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(2): Show | a0001c0001t0004g0096 a0001c0001t0004g0111 a0001c0001t0004g0112 others(12): Show |
15 | 115 | 0.1304 | 23 | c.920 others(42): Show |
KCNJ3 | ENSG00000162989.5 | transcript | ENST00000295101.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37859531 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0002 | a0001c0002t0157 | a0001c0002t0157g0089 | 1 | 196 | 0.0051 | 23 | c.-27 others(42): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 1/3 | chr21 | TogoVar | |||||||
KCNK13_chr14_90056994_90190853 | 90101790 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0180 | 1 | 62 | 0.0161 | 23 | c.334 others(42): Show |
KCNK13 | ENSG00000152315.5 | transcript | ENST00000282146.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KCNK13_chr14_90056994_90190853 | 90143176 | T | TTTCTTTC others(16): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0082 | 1 | 227 | 0.0044 | 23 | c.335 others(42): Show |
KCNK13 | ENSG00000152315.5 | transcript | ENST00000282146.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KCNK18_chr10_117192489_117215299 | 117192734 | C | CTTTTTTT others(16): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG01928.hp2 HG02074.hp1 others(7): Show |
a0003a0005 | a0003c0003a0005c0006 | a0003c0003t0001a0005c0006t0001 | a0003c0003t0001g0003 a0003c0003t0001g0120 a0005c0006t0001g0046 |
10 | 247 | 0.0405 | 23 | c.-47 others(34): Show |
KCNK18 | ENSG00000186795.1 | transcript | ENST00000334549.1 | protein_coding | 4754 | chr10 | TogoVar | |||||||
KCNK2_chr1_215077737_215242090 | 215209476 | T | TTATATAT others(16): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00558.hp1 others(81): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0014 a0001c0001t0001g0153 a0001c0001t0001g0155 others(81): Show |
84 | 143 | 0.5874 | 23 | c.963 others(42): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215209476 | T | TTATATAT others(16): Show |
intron_variant | MODIFIER | NA18948.hp1 NA18992.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0164 a0001c0001t0005g0166 |
2 | 61 | 0.0328 | 23 | c.963 others(42): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215209972 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0135 | 1 | 39 | 0.0256 | 23 | c.963 others(42): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215236045 | A | AATCTATC others(16): Show |
3_prime_UTR_variant | MODIFIER | HG02738.hp1 HG02895.hp2 NA18612.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0035a0001c0001t0049a0001c0001t0059 | a0001c0001t0035g0140 a0001c0001t0035g0213 a0001c0001t0049g0197 others(1): Show |
4 | 86 | 0.0465 | 23 | c.*91 others(32): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 7/7 | 912 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KCNK3_chr2_26687722_26738420 | 26735236 | C | CACACACA others(16): Show |
downstream_gene_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0041 | 1 | 333 | 0.0030 | 23 | c.*66 others(34): Show |
KCNK3 | ENSG00000171303.8 | transcript | ENST00000302909.4 | protein_coding | 1817 | chr2 | TogoVar | |||||||
KCNK4_chr11_64286302_64305031 | 64304830 | C | CGTGACCT others(16): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00621.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(12): Show |
26 | 401 | 0.0648 | 23 | c.*51 others(34): Show |
KCNK4 | ENSG00000182450.14 | transcript | ENST00000422670.7 | protein_coding | 4800 | chr11 | TogoVar | |||||||
KCNMB1_chr5_170369671_170394367 | 170370775 | T | TCAGACTG others(16): Show |
downstream_gene_variant | MODIFIER | NA18974.hp1 | a0002 | a0002c0002 | a0002c0002t0065 | a0002c0002t0065g0072 | 1 | 430 | 0.0023 | 23 | c.*79 others(34): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 3895 | chr5 | TogoVar | |||||||
KCNMB1_chr5_170369671_170394367 | 170390517 | A | AAAAAAAA others(16): Show |
upstream_gene_variant | MODIFIER | HG01346.hp2 HG01515.hp1 HG01517.hp2 |
a0003 | a0003c0003 | a0003c0003t0003a0003c0003t0011a0003c0003t0037 | a0003c0003t0003g0085 a0003c0003t0011g0036 a0003c0003t0037g0084 |
3 | 224 | 0.0134 | 23 | c.-12 others(34): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1151 | chr5 | TogoVar | |||||||
KCNMB1_chr5_170369671_170394367 | 170390517 | A | AAAAAAAA others(16): Show |
upstream_gene_variant | MODIFIER | HG02015.hp1 HG03710.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0003c0003t0011 | a0001c0001t0003g0019 a0003c0003t0011g0036 |
2 | 223 | 0.0090 | 23 | c.-12 others(34): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1151 | chr5 | TogoVar | |||||||
KCNMB1_chr5_170369671_170394367 | 170390517 | A | AAAAAAAA others(16): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00741.hp2 HG01106.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0033 | a0001c0001t0003g0019 a0001c0001t0011g0106 a0001c0001t0033g0046 |
4 | 225 | 0.0178 | 23 | c.-12 others(34): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1151 | chr5 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178691107 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02965.hp1 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0095 a0001c0001t0003g0105 a0001c0001t0004g0109 |
3 | 45 | 0.0667 | 23 | c.-67 others(44): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758138 | G | GGATATAT others(16): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02809.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0008 | a0001c0001t0002g0221 a0001c0002t0008g0018 |
2 | 231 | 0.0087 | 23 | c.-67 others(42): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |