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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
JAKMIP1_chr4_6021199_6205549 | 6067702 | A | ACAGGTCA others(41): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 224 | 0.0045 | 48 | c.130 others(67): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 8/20 | chr4 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6067827 | C | CTCAAGCT others(41): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02559.hp2 HG02647.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0166 a0001c0001t0001g0180 a0001c0001t0001g0203 others(4): Show |
7 | 222 | 0.0315 | 48 | c.130 others(67): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 8/20 | chr4 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6152789 | A | AATATATA others(41): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0150 | 1 | 181 | 0.0055 | 48 | c.-14 others(69): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 1/20 | chr4 | TogoVar | |||||||
JAKMIP2_chr5_147580438_147787728 | 147742155 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0015 | a0001c0015t0049 | a0001c0015t0049g0098 | 1 | 109 | 0.0092 | 48 | c.-14 others(69): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 1/21 | chr5 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132071876 | C | CTTTCTTT others(41): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03041.hp1 |
a0001a0003 | a0001c0017a0003c0018 | a0001c0017t0003a0003c0018t0003 | a0001c0017t0003g0104 a0003c0018t0003g0015 |
2 | 73 | 0.0274 | 48 | c.-13 others(67): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132108976 | T | TACGCAAA others(41): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0006 | a0001c0006t0016 | a0001c0006t0016g0147 | 1 | 113 | 0.0088 | 48 | c.135 others(65): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132116311 | G | GCACATTC others(41): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0004 | a0004c0043 | a0004c0043t0005 | a0004c0043t0005g0126 | 1 | 156 | 0.0064 | 48 | c.136 others(63): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132116503 | G | GGTGTGAG others(41): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0098 | 1 | 132 | 0.0076 | 48 | c.136 others(63): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132160133 | G | GGGGGCCT others(41): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02630.hp1 others(1): Show |
a0001 | a0001c0006a0001c0017a0001c0019 | a0001c0006t0016a0001c0017t0003a0001c0019t0003 | a0001c0006t0016g0147 a0001c0017t0003g0011 a0001c0017t0003g0104 others(1): Show |
4 | 156 | 0.0256 | 48 | c.222 others(67): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132186856 | T | TCGGGGGC others(41): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 HG03017.hp1 HG03654.hp2 others(2): Show |
a0002a0004a0005others(1): Show | a0002c0005a0004c0046a0005c0012others(2): Show | a0002c0005t0010a0004c0046t0007a0005c0012t0010others(2): Show | a0002c0005t0010g0096 a0004c0046t0007g0091 a0005c0012t0010g0004 others(2): Show |
5 | 146 | 0.0342 | 48 | c.*56 others(59): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 1999 | chr10 | TogoVar | |||||||
JAM2_chr21_25634258_25722562 | 25660782 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0240 | 1 | 144 | 0.0069 | 48 | c.67+ others(65): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
JAM3_chr11_134064072_134157001 | 134154547 | A | ACCCCTCC others(41): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0239 | 1 | 55 | 0.0182 | 48 | c.*53 others(59): Show |
JAM3 | ENSG00000166086.13 | transcript | ENST00000299106.9 | protein_coding | 2547 | chr11 | TogoVar | |||||||
JARID2_chr6_15241069_15527042 | 15415577 | T | TGCTGGCC others(41): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0064 | 1 | 267 | 0.0037 | 48 | c.323 others(65): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
JARID2_chr6_15241069_15527042 | 15469368 | T | TTCTCCCC others(41): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02976.hp1 HG03942.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0031 | a0001c0002t0005g0192 a0001c0002t0005g0264 a0001c0002t0005g0267 others(1): Show |
4 | 10 | 0.4000 | 48 | c.670 others(63): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
JARID2_chr6_15241069_15527042 | 15469378 | C | CTCCCCCT others(41): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 281 | 0.0036 | 48 | c.670 others(63): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63277731 | C | CTTTTTTT others(41): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0038 | a0001c0038t0001 | a0001c0038t0001g0128 | 1 | 68 | 0.0147 | 48 | c.334 others(67): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMY_chr5_79231131_79332211 | 79270616 | T | TTAAAATG others(41): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03516.hp2 NA18522.hp2 |
a0003 | a0003c0005 | a0003c0005t0010 | a0003c0005t0010g0180 a0003c0005t0010g0181 a0003c0005t0010g0183 |
3 | 339 | 0.0088 | 48 | c.103 others(67): Show |
JMY | ENSG00000152409.9 | transcript | ENST00000396137.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
JPH2_chr20_44101590_44192188 | 44126168 | G | GAGGGAGG others(41): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0122 | 1 | 188 | 0.0053 | 48 | c.117 others(67): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
KANK1_chr9_499695_751103 | 514226 | C | CCCTTCCT others(41): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02280.hp1 others(3): Show |
a0004a0009a0010 | a0004c0020a0009c0006a0010c0013 | a0004c0020t0001a0004c0020t0007a0009c0006t0002others(1): Show | a0004c0020t0001g0069 a0004c0020t0007g0070 a0009c0006t0002g0061 others(3): Show |
6 | 251 | 0.0239 | 48 | c.-84 others(65): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20062104 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0013 | 1 | 293 | 0.0034 | 48 | c.304 others(67): 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(41): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00609.hp1 others(46): Show |
a0001a0002 | a0001c0001a0001c0013a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0160 a0001c0001t0001g0311 a0001c0001t0002g0036 others(46): Show |
49 | 341 | 0.1437 | 48 | c.304 others(67): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KATNBL1_chr15_34135674_34215096 | 34181582 | A | ACATATAT others(41): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 a0001c0001t0001g0229 |
2 | 139 | 0.0144 | 48 | c.-14 others(67): Show |
KATNBL1 | ENSG00000134152.11 | transcript | ENST00000256544.8 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
KATNBL1_chr15_34135674_34215096 | 34181618 | A | ACATATAT others(41): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0267 | 1 | 338 | 0.0030 | 48 | c.-14 others(67): Show |
KATNBL1 | ENSG00000134152.11 | transcript | ENST00000256544.8 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
KAZN_chr1_14593685_15123043 | 14883333 | A | AGAGAGAG others(41): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0126 | 1 | 145 | 0.0069 | 48 | c.227 others(67): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14883337 | A | AGAGAGAG others(41): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0063 | 1 | 144 | 0.0069 | 48 | c.227 others(67): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14883341 | A | AGAGAGAG others(41): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0093 | 1 | 132 | 0.0076 | 48 | c.227 others(67): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KBTBD2_chr7_32863172_32896760 | 32891887 | G | GCCGCCCC others(41): Show |
upstream_gene_variant | MODIFIER | NA18956.hp1 NA18962.hp2 NA18994.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 5 | 371 | 0.0135 | 48 | c.-69 others(57): Show |
KBTBD2 | ENSG00000170852.12 | transcript | ENST00000304056.9 | protein_coding | 128 | chr7 | TogoVar | |||||||
KBTBD2_chr7_32863172_32896760 | 32891887 | G | GCCGCCCC others(41): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 2 | 368 | 0.0054 | 48 | c.-69 others(57): Show |
KBTBD2 | ENSG00000170852.12 | transcript | ENST00000304056.9 | protein_coding | 128 | chr7 | TogoVar | |||||||
KBTBD2_chr7_32863172_32896760 | 32891893 | C | CCCGCCGC others(41): Show |
upstream_gene_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 422 | 0.0024 | 48 | c.-69 others(57): Show |
KBTBD2 | ENSG00000170852.12 | transcript | ENST00000304056.9 | protein_coding | 134 | chr7 | TogoVar | |||||||
KCNB2_chr8_72532225_72943349 | 72920455 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 155 | 0.0065 | 48 | c.580 others(67): Show |
KCNB2 | ENSG00000182674.6 | transcript | ENST00000523207.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
KCNH5_chr14_62694464_63050458 | 62853453 | A | AATCATAT others(41): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 208 | 0.0048 | 48 | c.137 others(67): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 7/10 | chr14 | TogoVar | |||||||
KCNH5_chr14_62694464_63050458 | 62853458 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02622.hp2 HG02886.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009a0001c0001t0030 | a0001c0001t0005g0060 a0001c0001t0009g0096 a0001c0001t0009g0150 others(1): Show |
4 | 157 | 0.0255 | 48 | c.137 others(67): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 7/10 | chr14 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21226354 | A | AGAAGGAA others(41): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0045 | 1 | 31 | 0.0323 | 48 | c.62- others(67): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21233999 | A | AATATATA others(41): Show |
intron_variant | MODIFIER | HG01106.hp2 HG03041.hp2 NA19030.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0004a0001c0002t0006 | a0001c0001t0003g0080 a0001c0002t0004g0028 a0001c0002t0006g0019 |
3 | 80 | 0.0375 | 48 | c.62- others(67): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21234077 | C | CATATAAC others(41): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030 | 1 | 46 | 0.0217 | 48 | c.62- others(67): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNJ10_chr1_160032467_160075160 | 160049675 | T | TTATATAT others(41): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0012 | 1 | 132 | 0.0076 | 48 | c.1-7 others(61): Show |
KCNJ10 | ENSG00000177807.10 | transcript | ENST00000644903.1 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
KCNK10_chr14_88175108_88328269 | 88310155 | C | CTCATATA others(41): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03195.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0031a0001c0001t0063 | a0001c0001t0001g0282 a0001c0001t0031g0283 a0001c0001t0063g0281 |
3 | 259 | 0.0116 | 48 | c.52+ others(65): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
KCNK10_chr14_88175108_88328269 | 88310157 | C | CATATACC others(41): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01123.hp1 HG02129.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0007a0001c0001t0011others(3): Show | a0001c0001t0005g0320 a0001c0001t0007g0280 a0001c0001t0011g0322 others(3): Show |
6 | 271 | 0.0221 | 48 | c.52+ others(65): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
KCNK10_chr14_88175108_88328269 | 88310157 | C | CATATACC others(41): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0112 | a0001c0001t0001g0265 a0001c0001t0112g0221 |
2 | 267 | 0.0075 | 48 | c.52+ others(65): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
KCNK10_chr14_88175108_88328269 | 88310157 | C | CATATACC others(41): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02922.hp2 HG03209.hp1 |
a0001 | a0001c0002a0001c0013 | a0001c0002t0012a0001c0002t0109a0001c0013t0007 | a0001c0002t0012g0284 a0001c0002t0109g0285 a0001c0013t0007g0229 |
3 | 268 | 0.0112 | 48 | c.52+ others(65): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
KCNK10_chr14_88175108_88328269 | 88310169 | C | CATATGGT others(41): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02486.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0002a0001c0001t0010a0001c0001t0021others(18): Show | a0001c0001t0002g0232 a0001c0001t0010g0233 a0001c0001t0021g0287 others(22): Show |
25 | 326 | 0.0767 | 48 | c.52+ others(65): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
KCNK10_chr14_88175108_88328269 | 88310205 | G | GATATACC others(41): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0131 | 1 | 117 | 0.0085 | 48 | c.52+ others(65): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
KCNK1_chr1_233609106_233677514 | 233662238 | C | CCTTCTTC others(41): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0296 | 1 | 205 | 0.0049 | 48 | c.356 others(65): Show |
KCNK1 | ENSG00000135750.15 | transcript | ENST00000366621.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNK6_chr19_38314845_38337076 | 38328878 | G | GAGAAAGA others(41): Show |
3_prime_UTR_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(6): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0016a0002c0002t0027a0002c0002t0052others(1): Show | a0002c0002t0016g0002 a0002c0002t0027g0002 a0002c0002t0052g0002 others(1): Show |
9 | 322 | 0.0280 | 48 | c.*14 others(59): Show |
KCNK6 | ENSG00000099337.5 | transcript | ENST00000263372.5 | protein_coding | 3/3 | 1498 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
KCNK9_chr8_139612121_139708123 | 139687631 | T | TTCATATA others(41): Show |
intron_variant | MODIFIER | HG02622.hp2 NA18970.hp1 NA18977.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0063 others(1): Show |
4 | 314 | 0.0127 | 48 | c.283 others(67): Show |
KCNK9 | ENSG00000169427.8 | transcript | ENST00000520439.3 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 76969291 | A | AAGGAAGA others(41): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01167.hp1 HG01258.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(5): Show | a0001c0001t0001g0053 a0001c0001t0004g0103 a0001c0001t0015g0007 others(8): Show |
11 | 106 | 0.1038 | 48 | c.236 others(65): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 20/27 | chr10 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178757830 | C | CATCCAAG others(41): Show |
intron_variant | MODIFIER | HG01192.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0049 a0001c0001t0003g0081 |
2 | 192 | 0.0104 | 48 | c.-67 others(67): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758039 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0099 | 1 | 150 | 0.0067 | 48 | c.-67 others(67): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758397 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02027.hp2 HG02129.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0076 a0001c0001t0002g0113 a0001c0001t0003g0028 others(22): Show |
25 | 197 | 0.1269 | 48 | c.-67 others(67): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759905 | T | TATATCTC others(41): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01952.hp1 HG01975.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 a0001c0001t0004g0078 a0001c0001t0004g0181 |
3 | 232 | 0.0129 | 48 | c.-67 others(67): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar |