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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
JMJD7_chr15_41823092_41842581 | 41833414 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0151 | 1 | 386 | 0.0026 | 30 | c.65- others(45): Show |
JMJD7 | ENSG00000243789.11 | transcript | ENST00000397299.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
JPH1_chr8_74229700_74326540 | 74296019 | G | GACACACA others(23): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01433.hp1 HG01515.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0135 a0001c0001t0001g0205 a0001c0001t0002g0078 others(10): Show |
13 | 330 | 0.0394 | 30 | c.113 others(51): Show |
JPH1 | ENSG00000104369.5 | transcript | ENST00000342232.5 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
JSRP1_chr19_2247252_2261417 | 2259312 | C | CAAAAAAA others(23): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0036 | 1 | 436 | 0.0023 | 30 | c.-29 others(41): Show |
JSRP1 | ENSG00000167476.10 | transcript | ENST00000300961.10 | protein_coding | 2896 | chr19 | TogoVar | |||||||
KALRN_chr3_124028369_124731325 | 124044905 | C | CCTTCCTT others(23): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0020 | 1 | 116 | 0.0086 | 30 | c.73+ others(47): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124054357 | T | TTAAAAAT others(23): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02273.hp2 HG02965.hp1 others(2): Show |
a0001 | a0001c0026a0001c0035a0001c0055others(2): Show | a0001c0026t0005a0001c0035t0002a0001c0055t0002others(2): Show | a0001c0026t0005g0032 a0001c0035t0002g0054 a0001c0055t0002g0014 others(2): Show |
5 | 116 | 0.0431 | 30 | c.73+ others(47): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124109686 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01243.hp2 HG02897.hp1 others(2): Show |
a0001 | a0001c0002a0001c0007a0001c0016others(2): Show | a0001c0002t0007a0001c0007t0003a0001c0016t0025others(2): Show | a0001c0002t0007g0020 a0001c0007t0003g0101 a0001c0016t0025g0004 others(2): Show |
5 | 116 | 0.0431 | 30 | c.73+ others(47): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124109818 | A | ACTTTGAT others(23): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0070 | a0001c0070t0022 | a0001c0070t0022g0102 | 1 | 116 | 0.0086 | 30 | c.73+ others(47): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124109843 | A | ATCATACT others(23): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0009 | a0009c0058 | a0009c0058t0026 | a0009c0058t0026g0073 | 1 | 116 | 0.0086 | 30 | c.73+ others(47): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124109903 | A | ATCATACT others(23): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02896.hp2 HG03471.hp1 others(1): Show |
a0001a0008 | a0001c0012a0001c0020a0001c0072others(1): Show | a0001c0012t0010a0001c0020t0001a0001c0072t0003others(1): Show | a0001c0012t0010g0078 a0001c0020t0001g0087 a0001c0072t0003g0082 others(1): Show |
4 | 116 | 0.0345 | 30 | c.73+ others(47): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124110154 | A | ATGACATA others(23): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0061 | a0001c0061t0006 | a0001c0061t0006g0099 | 1 | 116 | 0.0086 | 30 | c.73+ others(47): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124110315 | G | GTCATACT others(23): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03041.hp1 HG03209.hp2 |
a0001a0003 | a0001c0003a0001c0043a0003c0071 | a0001c0003t0028a0001c0043t0015a0003c0071t0023 | a0001c0003t0028g0081 a0001c0043t0015g0080 a0003c0071t0023g0086 |
3 | 116 | 0.0259 | 30 | c.73+ others(47): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124265298 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01258.hp1 HG02486.hp2 others(6): Show |
a0001 | a0001c0002a0001c0003a0001c0006others(6): Show | a0001c0002t0007a0001c0003t0001a0001c0006t0001others(6): Show | a0001c0002t0007g0020 a0001c0003t0001g0041 a0001c0006t0001g0025 others(6): Show |
9 | 116 | 0.0776 | 30 | c.456 others(45): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 4/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 671623 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01891.hp1 NA19030.hp1 |
a0007a0008 | a0007c0025a0008c0008 | a0007c0025t0002a0008c0008t0005 | a0007c0025t0002g0230 a0008c0008t0005g0003 |
2 | 254 | 0.0079 | 30 | c.-83 others(47): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KANK3_chr19_8317584_8348262 | 8340275 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 406 | 0.0025 | 30 | c.-28 others(47): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
KANK3_chr19_8317584_8348262 | 8340291 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02970.hp1 |
a0001a0003 | a0001c0016a0003c0003 | a0001c0016t0001a0003c0003t0001 | a0001c0016t0001g0218 a0003c0003t0001g0267 |
2 | 406 | 0.0049 | 30 | c.-28 others(47): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
KANK3_chr19_8317584_8348262 | 8340291 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 406 | 0.0025 | 30 | c.-28 others(47): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
KANK3_chr19_8317584_8348262 | 8340291 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02071.hp1 HG03491.hp2 HG03704.hp1 others(8): Show |
a0001a0003a0007others(1): Show | a0001c0001a0003c0003a0007c0007others(1): Show | a0001c0001t0001a0003c0003t0001a0007c0007t0001others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0199 a0001c0001t0001g0201 others(6): Show |
11 | 406 | 0.0271 | 30 | c.-28 others(47): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
KANK3_chr19_8317584_8348262 | 8340291 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02155.hp2 HG03516.hp1 NA18964.hp1 others(5): Show |
a0001a0003a0007others(1): Show | a0001c0001a0003c0003a0007c0007others(1): Show | a0001c0001t0001a0003c0003t0001a0007c0007t0001others(1): Show | a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 others(4): Show |
8 | 406 | 0.0197 | 30 | c.-28 others(47): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
KANK4_chr1_62231165_62324434 | 62278400 | T | TCTTTCTT others(23): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0002 | a0002c0001 | a0002c0001t0014 | a0002c0001t0014g0271 | 1 | 322 | 0.0031 | 30 | c.16+ others(45): Show |
KANK4 | ENSG00000132854.19 | transcript | ENST00000371153.9 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
KANSL1L_chr2_210016421_210176409 | 210162222 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | NA18954.hp1 NA19009.hp1 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0003 | a0001c0001t0001g0090 a0004c0005t0003g0020 |
2 | 284 | 0.0070 | 30 | c.-29 others(47): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46096311 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | NA18972.hp1 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0134 a0001c0001t0002g0168 |
2 | 321 | 0.0062 | 30 | c.129 others(49): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | |||||||
KANSL3_chr2_96588172_96643312 | 96611903 | A | ATGTGTGT others(23): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0268 | 1 | 340 | 0.0029 | 30 | c.108 others(47): Show |
KANSL3 | ENSG00000114982.19 | transcript | ENST00000431828.6 | protein_coding | 9/20 | chr2 | TogoVar | |||||||
KARS1_chr16_75622724_75652665 | 75624114 | C | CATATATA others(23): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 | 1 | 380 | 0.0026 | 30 | c.*37 others(41): Show |
KARS1 | ENSG00000065427.15 | transcript | ENST00000302445.8 | protein_coding | 3609 | chr16 | TogoVar | |||||||
KAT2B_chr3_20035446_20159404 | 20081878 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03041.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0098 a0001c0001t0001g0306 |
3 | 374 | 0.0080 | 30 | c.430 others(47): 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(23): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01175.hp1 HG02698.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0002a0001c0002t0002a0003c0006t0002 | a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0231 others(5): Show |
8 | 374 | 0.0214 | 30 | c.230 others(49): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KATNA1_chr6_149589873_149653714 | 149634275 | A | AAAAATAA others(23): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 296 | 0.0034 | 30 | c.163 others(47): Show |
KATNA1 | ENSG00000186625.14 | transcript | ENST00000367411.7 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
KATNBL1_chr15_34135674_34215096 | 34181693 | T | TATATATC others(23): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02630.hp2 HG02647.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 others(3): Show |
6 | 344 | 0.0174 | 30 | c.-14 others(49): Show |
KATNBL1 | ENSG00000134152.11 | transcript | ENST00000256544.8 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
KAZN_chr1_14593685_15123043 | 14695510 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02040.hp2 NA18971.hp1 |
a0003a0005 | a0003c0005a0005c0015 | a0003c0005t0002a0005c0015t0013 | a0003c0005t0002g0100 a0005c0015t0013g0121 |
2 | 146 | 0.0137 | 30 | c.226 others(49): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14963043 | T | TTAGTTCC others(23): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 | 1 | 146 | 0.0069 | 30 | c.418 others(47): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 15031553 | G | GTGTGTTG others(23): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0131 | 1 | 146 | 0.0069 | 30 | c.419 others(47): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 15101164 | T | TTCTCTCT others(23): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0073 | 1 | 146 | 0.0069 | 30 | c.154 others(47): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KBTBD11_chr8_1968677_2011936 | 1996295 | T | TCACTCTT others(23): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0314 | 1 | 389 | 0.0026 | 30 | c.-90 others(49): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
KBTBD11_chr8_1968677_2011936 | 2008187 | T | TGTCAGAT others(23): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 389 | 0.0026 | 30 | c.*51 others(41): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 1252 | chr8 | TogoVar | |||||||
KBTBD2_chr7_32863172_32896760 | 32885017 | T | TACACATA others(23): Show |
intron_variant | MODIFIER | HG03453.hp1 HG03486.hp2 NA19043.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0019 | a0001c0002t0001g0179 a0001c0002t0001g0182 a0001c0002t0001g0209 others(1): Show |
4 | 434 | 0.0092 | 30 | c.-33 others(49): Show |
KBTBD2 | ENSG00000170852.12 | transcript | ENST00000304056.9 | protein_coding | 1/3 | chr7 | TogoVar | |||||||
KBTBD2_chr7_32863172_32896760 | 32891878 | G | GCCGCCCC others(23): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 HG00673.hp2 HG02040.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0006 a0001c0001t0001g0039 a0001c0001t0001g0043 others(16): Show |
26 | 434 | 0.0599 | 30 | c.-68 others(39): Show |
KBTBD2 | ENSG00000170852.12 | transcript | ENST00000304056.9 | protein_coding | 119 | chr7 | TogoVar | |||||||
KBTBD2_chr7_32863172_32896760 | 32891887 | G | GCCGCCCC others(23): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 HG03831.hp2 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0091 a0001c0001t0003g0003 |
3 | 434 | 0.0069 | 30 | c.-69 others(39): Show |
KBTBD2 | ENSG00000170852.12 | transcript | ENST00000304056.9 | protein_coding | 128 | chr7 | TogoVar | |||||||
KBTBD2_chr7_32863172_32896760 | 32891893 | C | CCCGCCGC others(23): Show |
upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 434 | 0.0023 | 30 | c.-69 others(39): Show |
KBTBD2 | ENSG00000170852.12 | transcript | ENST00000304056.9 | protein_coding | 134 | chr7 | TogoVar | |||||||
KCNAB1_chr3_156115578_156543605 | 156518461 | G | GAAAGAAA others(23): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02559.hp1 HG02922.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0004a0002c0004t0001 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 others(5): Show |
8 | 124 | 0.0645 | 30 | c.960 others(47): Show |
KCNAB1 | ENSG00000169282.19 | transcript | ENST00000490337.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNC1_chr11_17729781_17788057 | 17734263 | G | GGTGTGGG others(23): Show |
upstream_gene_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0221 | 1 | 332 | 0.0030 | 30 | c.-17 others(41): Show |
KCNC1 | ENSG00000129159.9 | transcript | ENST00000265969.8 | protein_coding | 517 | chr11 | TogoVar | |||||||
KCNC1_chr11_17729781_17788057 | 17734263 | G | GGTGTGTG others(23): Show |
upstream_gene_variant | MODIFIER | HG01358.hp2 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012 | a0001c0001t0003g0219 a0001c0001t0012g0120 |
2 | 332 | 0.0060 | 30 | c.-17 others(41): Show |
KCNC1 | ENSG00000129159.9 | transcript | ENST00000265969.8 | protein_coding | 517 | chr11 | TogoVar | |||||||
KCNC2_chr12_75035078_75214839 | 75138979 | T | TAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0224 | 1 | 316 | 0.0032 | 30 | c.687 others(49): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
KCNE3_chr11_74449841_74472549 | 74456155 | A | AATATATA others(23): Show |
3_prime_UTR_variant | MODIFIER | HG00642.hp1 HG01106.hp2 HG01978.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0038 a0001c0001t0018g0171 a0001c0001t0018g0202 others(1): Show |
5 | 446 | 0.0112 | 30 | c.*10 others(41): Show |
KCNE3 | ENSG00000175538.11 | transcript | ENST00000310128.9 | protein_coding | 3/3 | 1096 | chr11 | TogoVar | ||||||
KCNE4_chr2_223047190_223060637 | 223049803 | G | GTTCTATT others(23): Show |
upstream_gene_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 358 | 0.0028 | 30 | c.-24 others(41): Show |
KCNE4 | ENSG00000152049.7 | transcript | ENST00000281830.4 | protein_coding | 2386 | chr2 | TogoVar | |||||||
KCNE4_chr2_223047190_223060637 | 223049808 | G | GTTCTATT others(23): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 358 | 0.0028 | 30 | c.-24 others(41): Show |
KCNE4 | ENSG00000152049.7 | transcript | ENST00000281830.4 | protein_coding | 2381 | chr2 | TogoVar | |||||||
KCNG2_chr18_79792938_79905100 | 79865023 | C | CGAGGTCT others(23): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01346.hp1 HG01515.hp2 others(22): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0003t0001a0001c0005t0001 | a0001c0001t0001g0133 a0001c0001t0001g0160 a0001c0001t0001g0218 others(22): Show |
25 | 312 | 0.0801 | 30 | c.624 others(45): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79865521 | T | TGAGGTCT others(23): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02293.hp1 HG02818.hp2 others(6): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0008 a0001c0005t0001g0009 a0001c0005t0001g0175 others(6): Show |
9 | 312 | 0.0289 | 30 | c.624 others(47): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79866008 | A | AGAGGTCT others(23): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(87): Show |
a0002a0007 | a0002c0002a0002c0004a0007c0011 | a0002c0002t0001a0002c0002t0002a0002c0004t0001others(1): Show | a0002c0002t0001g0030 a0002c0002t0001g0050 a0002c0002t0001g0060 others(87): Show |
90 | 312 | 0.2885 | 30 | c.624 others(47): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79866359 | T | TGAGGTCT others(23): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0202 | 1 | 312 | 0.0032 | 30 | c.624 others(47): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79866778 | A | ATGCTGAG others(23): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(201): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0007others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(200): Show |
204 | 312 | 0.6539 | 30 | c.624 others(47): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79866801 | G | GGTCTGGG others(23): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0281 | 1 | 312 | 0.0032 | 30 | c.624 others(47): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |