| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| JPH3_chr16_87597508_87703156 | 87614268 | A | ACAGGTCC others(42): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0054 | 1 | 380 | 0.0026 | 49 | c.382 others(68): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| JPH3_chr16_87597508_87703156 | 87614273 | T | CCCCTGTA others(42): Show |
intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 380 | 0.0026 | 49 | c.382 others(68): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
| JPH3_chr16_87597508_87703156 | 87614405 | A | AAGGATAA others(42): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(97): Show |
a0001a0002a0013 | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0014a0001c0001t0027others(29): Show | a0001c0001t0001g0033a0001c0001t0001g0122a0001c0001t0001g0123others(97): Show | 100 | 380 | 0.2632 | 49 | c.382 others(68): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| JPH3_chr16_87597508_87703156 | 87614842 | T | TTCCCGGG others(42): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02970.hp1 others(1): Show |
a0001 | a0001c0013a0001c0014a0001c0023 | a0001c0013t0005a0001c0014t0001a0001c0023t0001 | a0001c0013t0005g0315a0001c0014t0001g0170a0001c0023t0001g0269others(1): Show | 4 | 380 | 0.0105 | 49 | c.382 others(68): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| KALRN_chr3_124028369_124731325 | 124366911 | G | GGCGGCTG others(42): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01074.hp1 HG01243.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0007a0001c0019others(8): Show | a0001c0001t0003a0001c0007t0003a0001c0019t0004others(8): Show | a0001c0001t0003g0010a0001c0007t0003g0101a0001c0019t0004g0104others(9): Show | 12 | 116 | 0.1035 | 49 | c.177 others(70): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 10/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| KARS1_chr16_75622724_75652665 | 75624133 | A | ATATATAT others(42): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 380 | 0.0026 | 49 | c.*37 others(60): Show |
KARS1 | ENSG00000065427.15 | transcript | ENST00000302445.8 | protein_coding | 3590 | chr16 | TogoVar | ||||||
| KAZN_chr1_14593685_15123043 | 14883354 | G | GGGAGGGA others(42): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0002 | 1 | 146 | 0.0069 | 49 | c.227 others(68): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | chr1 | TogoVar | ||||||
| KCNH1_chr1_210673314_211139148 | 210718477 | A | ATATATAC others(42): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0011 | 1 | 164 | 0.0061 | 49 | c.211 others(70): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 10/10 | chr1 | TogoVar | ||||||
| KCNIP4_chr4_20723606_21953772 | 21234070 | A | ATATAACA others(42): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0029 | 1 | 80 | 0.0125 | 49 | c.62- others(68): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
| KCNMB1_chr5_170369671_170394367 | 170390517 | A | AAAAAAAA others(42): Show |
upstream_gene_variant | MODIFIER | HG01981.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0052a0001c0001t0053 | a0001c0001t0052g0096a0001c0001t0053g0097 | 2 | 432 | 0.0046 | 49 | c.-12 others(60): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1151 | chr5 | TogoVar | ||||||
| KCNN2_chr5_114357070_114501496 | 114373658 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | NA18999.hp1 NA18999.hp2 |
a0002 | a0002c0002a0002c0017 | a0002c0002t0001a0002c0017t0001 | a0002c0002t0001g0179a0002c0017t0001g0178 | 2 | 250 | 0.0080 | 49 | c.121 others(68): Show |
KCNN2 | ENSG00000080709.17 | transcript | ENST00000673685.1 | protein_coding | 2/7 | chr5 | TogoVar | ||||||
| KCNN3_chr1_154692455_154875281 | 154755488 | A | AAAGGAAG others(42): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 |
a0008 | a0008c0016 | a0008c0016t0007 | a0008c0016t0007g0209a0008c0016t0007g0210 | 2 | 238 | 0.0084 | 49 | c.144 others(70): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 3/7 | chr1 | TogoVar | ||||||
| KCNN3_chr1_154692455_154875281 | 154755496 | A | AAAGAAAG others(42): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03453.hp1 HG03579.hp1 others(1): Show |
a0002a0003a0006 | a0002c0002a0003c0003a0006c0012 | a0002c0002t0005a0003c0003t0040a0003c0003t0075others(1): Show | a0002c0002t0005g0143a0003c0003t0040g0184a0003c0003t0075g0162others(1): Show | 4 | 238 | 0.0168 | 49 | c.144 others(70): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 3/7 | chr1 | TogoVar | ||||||
| KCNQ5_chr6_72617064_73203853 | 73024381 | T | TGATAGAT others(42): Show |
intron_variant | MODIFIER | HG02083.hp2 HG02970.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0005 | a0001c0001t0009g0037a0001c0002t0005g0063 | 2 | 80 | 0.0250 | 49 | c.490 others(68): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| KDM1B_chr6_18150422_18228854 | 18208628 | T | TATATATA others(42): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0367 | 1 | 392 | 0.0026 | 49 | c.186 others(66): Show |
KDM1B | ENSG00000165097.16 | transcript | ENST00000650836.2 | protein_coding | 17/21 | chr6 | TogoVar | ||||||
| KDM4C_chr9_6752973_7180648 | 6807926 | C | CTCTGGGA others(42): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01884.hp2 HG02257.hp2 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0027others(7): Show | a0001c0001t0002a0001c0001t0006a0001c0002t0001others(11): Show | a0001c0001t0002g0142a0001c0001t0002g0161a0001c0001t0006g0260others(13): Show | 16 | 266 | 0.0602 | 49 | c.320 others(66): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| KDM4C_chr9_6752973_7180648 | 6807975 | G | GTCCGGGA others(42): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02572.hp1 HG03130.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0008a0003c0007 | a0001c0001t0002a0002c0008t0001a0003c0007t0001 | a0001c0001t0002g0184a0002c0008t0001g0186a0003c0007t0001g0183others(1): Show | 4 | 266 | 0.0150 | 49 | c.320 others(66): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| KDM4C_chr9_6752973_7180648 | 6807975 | G | GTCCGGGA others(42): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01167.hp1 HG01169.hp1 others(5): Show |
a0001a0006a0011others(3): Show | a0001c0002a0006c0009a0011c0016others(3): Show | a0001c0002t0003a0001c0002t0006a0006c0009t0003others(5): Show | a0001c0002t0003g0258a0001c0002t0006g0252a0006c0009t0003g0254others(5): Show | 8 | 266 | 0.0301 | 49 | c.320 others(66): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| KDM4C_chr9_6752973_7180648 | 6808086 | T | TGCCCGGC others(42): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0008 | a0002c0008t0008 | a0002c0008t0008g0208 | 1 | 266 | 0.0038 | 49 | c.320 others(66): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| KDM4C_chr9_6752973_7180648 | 6808086 | T | TGCCCGGC others(42): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(121): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0002a0001c0027others(37): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(56): Show | a0001c0001t0001g0025a0001c0001t0001g0041a0001c0001t0001g0066others(121): Show | 124 | 266 | 0.4662 | 49 | c.320 others(66): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| KDM4C_chr9_6752973_7180648 | 6808113 | G | GGAGGTGG others(42): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0003 | a0003c0004 | a0003c0004t0016 | a0003c0004t0016g0202 | 1 | 266 | 0.0038 | 49 | c.320 others(66): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 3/21 | chr9 | TogoVar | ||||||
| KDM4C_chr9_6752973_7180648 | 7052909 | G | GACAGCGA others(42): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0002 | a0002c0045 | a0002c0045t0002 | a0002c0045t0002g0211 | 1 | 266 | 0.0038 | 49 | c.242 others(68): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
| KDM4C_chr9_6752973_7180648 | 7052909 | G | GAGAGCGA others(42): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00735.hp1 others(6): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0003c0035others(4): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0006others(5): Show | a0001c0001t0002g0238a0001c0002t0002g0014a0001c0002t0006g0252others(6): Show | 9 | 266 | 0.0338 | 49 | c.242 others(68): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
| KDM6A_chrX_44868188_45117779 | 45042256 | A | AGGGAGAG others(42): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0081 | 1 | 199 | 0.0050 | 49 | c.654 others(66): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| KHDC1L_chr6_73218544_73230496 | 73220972 | A | ATTAGACA others(42): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG02559.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004a0001c0001t0003g0008 | 3 | 420 | 0.0071 | 49 | c.*27 others(60): Show |
KHDC1L | ENSG00000256980.5 | transcript | ENST00000370388.4 | protein_coding | 2571 | chr6 | TogoVar | ||||||
| KHSRP_chr19_6408102_6429811 | 6429474 | A | AGGAGGGG others(42): Show |
upstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0098 | 1 | 386 | 0.0026 | 49 | c.-47 others(60): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4664 | chr19 | TogoVar | ||||||
| KIAA0319_chr6_24539107_24651191 | 24579420 | T | TATATATA others(42): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0040 | 1 | 300 | 0.0033 | 49 | c.137 others(66): Show |
KIAA0319 | ENSG00000137261.15 | transcript | ENST00000378214.8 | protein_coding | 8/20 | chr6 | TogoVar | ||||||
| KIAA1549L_chr11_33371108_33679102 | 33435798 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0009 | a0001c0009t0030 | a0001c0009t0030g0224 | 1 | 226 | 0.0044 | 49 | c.238 others(68): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| KIAA1958_chr9_112481827_112674397 | 112514813 | A | AGCCCCCC others(42): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03041.hp1 NA18522.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0024a0001c0002t0014others(1): Show | a0001c0001t0002g0011a0001c0001t0002g0012a0001c0001t0024g0053others(2): Show | 5 | 308 | 0.0162 | 49 | c.-25 others(68): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| KIAA2012_chr2_202068255_202210188 | 202133130 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0227 | 1 | 312 | 0.0032 | 49 | c.183 others(68): Show |
KIAA2012 | ENSG00000182329.14 | transcript | ENST00000498697.3 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| KIF13B_chr8_29062278_29268070 | 29228472 | A | AAAAAAAA others(42): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0238 | 1 | 288 | 0.0035 | 49 | c.149 others(68): Show |
KIF13B | ENSG00000197892.13 | transcript | ENST00000524189.6 | protein_coding | 2/39 | chr8 | TogoVar | ||||||
| KIF25_chr6_167992671_168050091 | 167997140 | G | GCGGGGGA others(42): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 HG03453.hp2 |
a0003a0005 | a0003c0004a0005c0007 | a0003c0004t0010a0005c0007t0010 | a0003c0004t0010g0018a0005c0007t0010g0019 | 2 | 375 | 0.0053 | 49 | c.-23 others(60): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 530 | chr6 | TogoVar | ||||||
| KIF25_chr6_167992671_168050091 | 167997285 | G | GGGGGCGG others(42): Show |
upstream_gene_variant | MODIFIER | HG03453.hp1 HG03579.hp2 |
a0001 | a0001c0003 | a0001c0003t0015 | a0001c0003t0015g0287a0001c0003t0015g0288 | 2 | 375 | 0.0053 | 49 | c.-21 others(60): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 385 | chr6 | TogoVar | ||||||
| KIF25_chr6_167992671_168050091 | 167997457 | G | GGGGGCGG others(42): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 | a0006 | a0006c0008 | a0006c0008t0016 | a0006c0008t0016g0167 | 1 | 375 | 0.0027 | 49 | c.-20 others(60): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 213 | chr6 | TogoVar | ||||||
| KIF25_chr6_167992671_168050091 | 167997463 | T | TCGGGGGA others(42): Show |
upstream_gene_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0113 | 1 | 375 | 0.0027 | 49 | c.-20 others(60): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 207 | chr6 | TogoVar | ||||||
| KIF26B_chr1_245149985_245714432 | 245556348 | T | TCCTCCTC others(42): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG01123.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0005a0001c0002t0081 | a0001c0002t0003g0014a0001c0002t0003g0029a0001c0002t0003g0032others(2): Show | 5 | 160 | 0.0313 | 49 | c.135 others(70): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| KIF27_chr9_83829099_83926432 | 83848067 | T | TGATATAT others(42): Show |
intron_variant | MODIFIER | HG01928.hp1 HG02132.hp1 HG02155.hp1 others(20): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0017 | a0001c0002t0001g0002a0001c0002t0001g0006a0001c0002t0001g0088others(17): Show | 23 | 346 | 0.0665 | 49 | c.355 others(68): Show |
KIF27 | ENSG00000165115.15 | transcript | ENST00000297814.7 | protein_coding | 16/17 | chr9 | TogoVar | ||||||
| KIF2C_chr1_44734837_44772767 | 44738054 | T | TTCCCCCT others(42): Show |
upstream_gene_variant | MODIFIER | NA18940.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0091 | 1 | 374 | 0.0027 | 49 | c.-18 others(60): Show |
KIF2C | ENSG00000142945.13 | transcript | ENST00000372224.9 | protein_coding | 1782 | chr1 | TogoVar | ||||||
| KIF2C_chr1_44734837_44772767 | 44738054 | T | TTCCCCCT others(42): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG02300.hp2 HG04228.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0004t0001a0002c0002t0002 | a0001c0001t0001g0205a0001c0004t0001g0244a0002c0002t0002g0020others(2): Show | 5 | 374 | 0.0134 | 49 | c.-18 others(60): Show |
KIF2C | ENSG00000142945.13 | transcript | ENST00000372224.9 | protein_coding | 1782 | chr1 | TogoVar | ||||||
| KIF2C_chr1_44734837_44772767 | 44738055 | T | TCCCCCTC others(42): Show |
upstream_gene_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 374 | 0.0027 | 49 | c.-18 others(60): Show |
KIF2C | ENSG00000142945.13 | transcript | ENST00000372224.9 | protein_coding | 1781 | chr1 | TogoVar | ||||||
| KIF2C_chr1_44734837_44772767 | 44738061 | T | TCCCCCTC others(42): Show |
upstream_gene_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 374 | 0.0027 | 49 | c.-18 others(60): Show |
KIF2C | ENSG00000142945.13 | transcript | ENST00000372224.9 | protein_coding | 1775 | chr1 | TogoVar | ||||||
| KIF6_chr6_39324990_39730408 | 39346132 | C | CCTCTCTC others(42): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0003 | a0003c0003 | a0003c0003t0030 | a0003c0003t0030g0120 | 1 | 174 | 0.0058 | 49 | c.223 others(66): Show |
KIF6 | ENSG00000164627.18 | transcript | ENST00000287152.12 | protein_coding | 20/22 | chr6 | TogoVar | ||||||
| KLC3_chr19_45335750_45356519 | 45355815 | T | TTTTTTTT others(42): Show |
downstream_gene_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 434 | 0.0023 | 49 | c.*44 others(60): Show |
KLC3 | ENSG00000104892.17 | transcript | ENST00000391946.7 | protein_coding | 4297 | chr19 | TogoVar | ||||||
| KLHDC4_chr16_87702812_87770986 | 87718338 | T | TCCCCCTC others(42): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0007 | a0007c0017 | a0007c0017t0001 | a0007c0017t0001g0378 | 1 | 380 | 0.0026 | 49 | c.760 others(66): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 7/11 | chr16 | TogoVar | ||||||
| KLHDC4_chr16_87702812_87770986 | 87726321 | G | GCCGCGCC others(42): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0321 | 1 | 380 | 0.0026 | 49 | c.759 others(64): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 7/11 | chr16 | TogoVar | ||||||
| KLHDC4_chr16_87702812_87770986 | 87726434 | T | TCCCCACC others(42): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0379 | 1 | 380 | 0.0026 | 49 | c.759 others(64): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 7/11 | chr16 | TogoVar | ||||||
| KLHDC4_chr16_87702812_87770986 | 87726633 | G | GCCGCGCC others(42): Show |
intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 380 | 0.0026 | 49 | c.759 others(64): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 7/11 | chr16 | TogoVar | ||||||
| KLHL41_chr2_169504702_169531258 | 169505934 | A | ACCCCGTC others(42): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 HG03225.hp1 NA20129.hp2 |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0036a0003c0005t0001g0108 | 3 | 422 | 0.0071 | 49 | c.-38 others(60): Show |
KLHL41 | ENSG00000239474.7 | transcript | ENST00000284669.2 | protein_coding | 3767 | chr2 | TogoVar | ||||||
| KLHL41_chr2_169504702_169531258 | 169506118 | A | AGGAGGGA others(42): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 HG03225.hp1 NA20129.hp2 |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0036a0003c0005t0001g0108 | 3 | 422 | 0.0071 | 49 | c.-36 others(60): Show |
KLHL41 | ENSG00000239474.7 | transcript | ENST00000284669.2 | protein_coding | 3583 | chr2 | TogoVar | ||||||
| KLRC1_chr12_10441028_10458377 | 10443913 | T | TGAAGAAT others(42): Show |
downstream_gene_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 440 | 0.0023 | 49 | c.*25 others(60): Show |
KLRC1 | ENSG00000134545.14 | transcript | ENST00000359151.8 | protein_coding | 2114 | chr12 | TogoVar |