view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HSD17B11_chr4_87331515_87396188 | 87378879 | TAAATATA others(43): Show |
T | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0266 | 1 | 390 | 0.0026 | -50 | c.318 others(67): Show |
HSD17B11 | ENSG00000198189.11 | transcript | ENST00000358290.9 | protein_coding | 2/6 | chr4 | TogoVar | |||||||
HSD17B6_chr12_56758324_56792790 | 56783620 | GCGGCTGG others(43): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG01081.hp1 others(30): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0012a0001c0001t0001g0014a0001c0001t0001g0029others(28): Show | 33 | 360 | 0.0917 | -50 | c.573 others(67): Show |
HSD17B6 | ENSG00000025423.11 | transcript | ENST00000322165.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
HSD17B6_chr12_56758324_56792790 | 56789518 | CCACCTCC others(43): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00597.hp2 others(87): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(74): Show | 90 | 360 | 0.2500 | -50 | c.*21 others(61): Show |
HSD17B6 | ENSG00000025423.11 | transcript | ENST00000322165.1 | protein_coding | 1729 | chr12 | TogoVar | |||||||
HSD17B6_chr12_56758324_56792790 | 56789534 | CGGGACGG others(43): Show |
C | downstream_gene_variant | MODIFIER | HG03225.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110a0001c0001t0001g0241 | 2 | 360 | 0.0056 | -50 | c.*21 others(61): Show |
HSD17B6 | ENSG00000025423.11 | transcript | ENST00000322165.1 | protein_coding | 1745 | chr12 | TogoVar | |||||||
HSF1_chr8_144286604_144319720 | 144313639 | GCCTCCCC others(43): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG03098.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0066 | 3 | 330 | 0.0091 | -50 | c.124 others(65): Show |
HSF1 | ENSG00000185122.11 | transcript | ENST00000528838.6 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HSPBAP1_chr3_122734999_122798831 | 122780271 | GCCGGGCG others(43): Show |
G | intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 350 | 0.0029 | -50 | c.65- others(65): Show |
HSPBAP1 | ENSG00000169087.11 | transcript | ENST00000306103.3 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
HTR1F_chr3_87787706_87998839 | 87987679 | ATATTTTA others(43): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp1 HG02055.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014 | a0001c0001t0001g0101a0001c0001t0001g0103a0001c0001t0001g0104others(6): Show | 9 | 250 | 0.0360 | -50 | c.-42 others(67): Show |
HTR1F | ENSG00000179097.7 | transcript | ENST00000319595.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IFT74_chr9_26951412_27071134 | 27022038 | CTCCTACT others(43): Show |
C | intron_variant | MODIFIER | NA18967.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0068 | 1 | 342 | 0.0029 | -50 | c.974 others(67): Show |
IFT74 | ENSG00000096872.17 | transcript | ENST00000380062.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
IFT81_chr12_110119357_110223793 | 110162251 | GGTGTTAC others(43): Show |
G | intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0176 | 1 | 218 | 0.0046 | -50 | c.104 others(67): Show |
IFT81 | ENSG00000122970.16 | transcript | ENST00000242591.10 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IGF2BP1_chr17_48992385_49061145 | 49019937 | TATATATA others(43): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0064 | 1 | 318 | 0.0031 | -50 | c.237 others(67): Show |
IGF2BP1 | ENSG00000159217.10 | transcript | ENST00000290341.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
IGF2R_chr6_159964082_160116504 | 160100723 | CCTTTTTT others(43): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG02165.hp1 HG03669.hp2 others(1): Show |
a0001a0004 | a0001c0002a0001c0004a0004c0006 | a0001c0002t0091a0001c0004t0066a0004c0006t0002 | a0001c0002t0091g0292a0001c0004t0066g0174a0004c0006t0002g0075others(1): Show | 4 | 310 | 0.0129 | -50 | c.684 others(69): Show |
IGF2R | ENSG00000197081.16 | transcript | ENST00000356956.6 | protein_coding | 45/47 | chr6 | TogoVar | |||||||
IGSF21_chr1_18102798_18383483 | 18273445 | ACTTTCTT others(43): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01070.hp2 others(23): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0010a0001c0001t0001g0026a0001c0001t0001g0029others(23): Show | 26 | 248 | 0.1048 | -50 | c.184 others(69): Show |
IGSF21 | ENSG00000117154.12 | transcript | ENST00000251296.4 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
IGSF21_chr1_18102798_18383483 | 18354841 | AGCTTTCC others(43): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG00733.hp2 HG00738.hp1 others(82): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0016a0001c0001t0001g0020a0001c0001t0001g0025others(82): Show | 85 | 248 | 0.3427 | -50 | c.425 others(67): Show |
IGSF21 | ENSG00000117154.12 | transcript | ENST00000251296.4 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
IL19_chr1_206765773_206847981 | 206781945 | AGTTATAT others(43): Show |
A | intron_variant | MODIFIER | HG01175.hp2 HG01346.hp2 HG01978.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(2): Show | a0001c0001t0001g0101a0001c0001t0001g0112a0001c0001t0001g0143others(11): Show | 14 | 366 | 0.0383 | -50 | c.-14 others(71): Show |
IL19 | ENSG00000142224.18 | transcript | ENST00000659997.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
IL2RA_chr10_6005689_6067367 | 6031444 | ATATATAT others(43): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02155.hp1 HG03139.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009 | a0001c0001t0001g0108a0001c0001t0001g0109a0001c0001t0001g0176others(7): Show | 10 | 414 | 0.0242 | -50 | c.65- others(65): Show |
IL2RA | ENSG00000134460.19 | transcript | ENST00000379959.8 | protein_coding | 1/7 | chr10 | TogoVar | |||||||
IMMP2L_chr7_110657644_111567492 | 111281199 | AAAGAAAG others(43): Show |
A | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 84 | 0.0119 | -50 | c.239 others(71): Show |
IMMP2L | ENSG00000184903.10 | transcript | ENST00000405709.7 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
IMPA1_chr8_81651914_81691325 | 81684877 | CTATGTAT others(43): Show |
C | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0244 | 1 | 380 | 0.0026 | -50 | c.-25 others(67): Show |
IMPA1 | ENSG00000133731.10 | transcript | ENST00000256108.10 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
INO80_chr15_40973880_41121280 | 41041884 | GAGTACAG others(43): Show |
G | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0087 | 1 | 282 | 0.0036 | -50 | c.290 others(69): Show |
INO80 | ENSG00000128908.19 | transcript | ENST00000648947.1 | protein_coding | 24/35 | chr15 | TogoVar | |||||||
INPP5F_chr10_119721050_119834147 | 119794700 | ACCCCCCA others(43): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0003 | a0001c0003t0018 | a0001c0003t0018g0002 | 1 | 328 | 0.0031 | -50 | c.670 others(67): Show |
INPP5F | ENSG00000198825.15 | transcript | ENST00000650623.2 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INSC_chr11_15109923_15252208 | 15229963 | TATATATA others(43): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01081.hp2 HG01256.hp1 others(48): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0039others(47): Show | 51 | 270 | 0.1889 | -50 | c.117 others(69): Show |
INSC | ENSG00000188487.12 | transcript | ENST00000379556.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
INSR_chr19_7107265_7299414 | 7124562 | AAAAAAAA others(43): Show |
A | intron_variant | MODIFIER | NA18968.hp1 NA19000.hp1 NA19066.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0025a0001c0003t0080a0001c0004t0025 | a0001c0003t0025g0004a0001c0003t0080g0091a0001c0004t0025g0049 | 3 | 300 | 0.0100 | -50 | c.325 others(67): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 17/21 | chr19 | TogoVar | |||||||
INTS9_chr8_28762661_28894969 | 28881476 | AGGGGGGG others(43): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01255.hp1 HG01261.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213a0001c0001t0001g0214a0001c0001t0001g0288others(1): Show | 4 | 358 | 0.0112 | -50 | c.9+8 others(63): Show |
INTS9 | ENSG00000104299.15 | transcript | ENST00000521022.6 | protein_coding | 1/16 | chr8 | TogoVar | |||||||
IPCEF1_chr6_154149496_154361803 | 154357869 | TATATATA others(43): Show |
T | upstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0187 | 1 | 264 | 0.0038 | -50 | c.-13 others(61): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1067 | chr6 | TogoVar | |||||||
IPCEF1_chr6_154149496_154361803 | 154357908 | TATATATA others(43): Show |
T | upstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0212 | 1 | 264 | 0.0038 | -50 | c.-13 others(61): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1106 | chr6 | TogoVar | |||||||
IQCE_chr7_2553979_2619728 | 2577665 | GGGGACGT others(43): Show |
G | intron_variant | MODIFIER | HG01255.hp1 HG01433.hp2 HG03654.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0028a0001c0001t0031a0001c0001t0037others(1): Show | a0001c0001t0028g0306a0001c0001t0031g0142a0001c0001t0037g0372others(2): Show | 5 | 416 | 0.0120 | -50 | c.466 others(65): Show |
IQCE | ENSG00000106012.19 | transcript | ENST00000402050.7 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
IQCM_chr4_149346709_149820843 | 149582307 | CATATATA others(43): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00642.hp1 others(43): Show |
a0001a0005a0008others(2): Show | a0001c0001a0001c0002a0005c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0044a0001c0001t0001g0068a0001c0001t0001g0092others(43): Show | 46 | 252 | 0.1825 | -50 | c.749 others(67): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 9/13 | chr4 | TogoVar | |||||||
IQGAP1_chr15_90383242_90507239 | 90422610 | ATATATAT others(43): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02809.hp1 NA20129.hp2 |
a0001a0006 | a0001c0006a0006c0015 | a0001c0006t0009a0001c0006t0026a0006c0015t0009 | a0001c0006t0009g0102a0001c0006t0026g0103a0006c0015t0009g0104 | 3 | 360 | 0.0083 | -50 | c.156 others(67): Show |
IQGAP1 | ENSG00000140575.13 | transcript | ENST00000268182.10 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 177126 | CCAGGCAG others(43): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02055.hp2 HG02896.hp1 HG02976.hp1 others(1): Show |
a0001a0003 | a0001c0003a0001c0004a0003c0005others(1): Show | a0001c0003t0012a0001c0004t0012a0003c0005t0012others(1): Show | a0001c0003t0012g0049a0001c0004t0012g0022a0003c0005t0012g0074others(1): Show | 4 | 282 | 0.0142 | -50 | c.*21 others(61): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 14/14 | 2132 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 177165 | ACTTACCA others(43): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0019 | a0001c0019t0034 | a0001c0019t0034g0244 | 1 | 282 | 0.0036 | -50 | c.*21 others(61): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 14/14 | 2151 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 177184 | GACCCCGT others(43): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00733.hp1 HG01243.hp1 HG01496.hp1 others(26): Show |
a0001a0002a0003others(5): Show | a0001c0003a0001c0004a0001c0043others(8): Show | a0001c0003t0004a0001c0004t0004a0001c0004t0012others(17): Show | a0001c0003t0004g0166a0001c0004t0004g0031a0001c0004t0012g0021others(26): Show | 29 | 282 | 0.1028 | -50 | c.*22 others(61): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 14/14 | 2201 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ITFG1_chr16_47149391_47466063 | 47181362 | GCCCCCCG others(43): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG02970.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104a0001c0001t0001g0105a0001c0001t0001g0106 | 3 | 110 | 0.0273 | -50 | c.145 others(71): Show |
ITFG1 | ENSG00000129636.13 | transcript | ENST00000320640.11 | protein_coding | 14/17 | chr16 | TogoVar | |||||||
ITGA9_chr3_37447141_37828507 | 37512120 | CTTTCTTT others(43): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00741.hp2 HG01243.hp1 others(9): Show |
a0001 | a0001c0001a0001c0005a0001c0015 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0014a0001c0001t0004g0034a0001c0001t0004g0074others(9): Show | 12 | 168 | 0.0714 | -50 | c.898 others(67): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31334554 | CCTCCTTC others(43): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG01256.hp1 HG01258.hp1 others(2): Show |
a0004 | a0004c0006 | a0004c0006t0003 | a0004c0006t0003g0005a0004c0006t0003g0006a0004c0006t0003g0008others(2): Show | 5 | 244 | 0.0205 | -50 | c.*28 others(61): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1678 | chr16 | TogoVar | |||||||
ITIH2_chr10_7698316_7754520 | 7737649 | TATATTAT others(43): Show |
T | intron_variant | MODIFIER | HG01123.hp2 HG01346.hp2 HG01993.hp1 others(5): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0026a0002c0003t0001g0027a0002c0003t0001g0028others(5): Show | 8 | 380 | 0.0211 | -50 | c.195 others(67): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITIH2_chr10_7698316_7754520 | 7737660 | CTATATTA others(43): Show |
C | intron_variant | MODIFIER | HG02129.hp2 HG02280.hp1 HG02280.hp2 others(8): Show |
a0001a0007a0010 | a0001c0001a0001c0002a0007c0010others(1): Show | a0001c0001t0001a0001c0002t0001a0007c0010t0001others(1): Show | a0001c0001t0001g0148a0001c0001t0001g0289a0001c0002t0001g0006others(7): Show | 11 | 380 | 0.0290 | -50 | c.195 others(67): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITIH5_chr10_7554270_7671966 | 7556067 | CATATATA others(43): Show |
C | downstream_gene_variant | MODIFIER | HG01081.hp2 HG03516.hp2 |
a0000a0013 | a0000c0013a0013c0019 | a0000c0013t0037a0013c0019t0021 | a0000c0013t0037g0251a0013c0019t0021g0101 | 2 | 342 | 0.0059 | -50 | c.*69 others(61): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 3202 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7644852 | CATATGTA others(43): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG01070.hp1 others(40): Show |
a0000a0001a0002others(6): Show | a0000c0011a0000c0013a0000c0041others(8): Show | a0000c0011t0030a0000c0013t0004a0000c0013t0038others(14): Show | a0000c0011t0030g0013a0000c0013t0004g0129a0000c0013t0038g0130others(40): Show | 43 | 342 | 0.1257 | -50 | c.136 others(67): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 2/13 | chr10 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26802559 | CTATATAT others(43): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG00741.hp1 others(29): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0017a0001c0001t0052others(24): Show | a0001c0001t0001g0021a0001c0001t0001g0036a0001c0001t0001g0045others(29): Show | 32 | 142 | 0.2254 | -50 | c.93- others(67): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 1/56 | chr12 | TogoVar | |||||||
ITSN2_chr2_24197864_24365536 | 24251347 | ATGTGTGT others(43): Show |
A | intron_variant | MODIFIER | HG01074.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0176 | 1 | 224 | 0.0045 | -50 | c.312 others(67): Show |
ITSN2 | ENSG00000198399.16 | transcript | ENST00000355123.9 | protein_coding | 25/39 | chr2 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132116693 | GATGTGTG others(43): Show |
G | intron_variant | MODIFIER | NA20805.hp2 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0118 | 1 | 158 | 0.0063 | -50 | c.136 others(65): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 2/23 | chr10 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132159606 | ATGTGATG others(43): Show |
A | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0017 | a0001c0017t0027 | a0001c0017t0027g0012 | 1 | 158 | 0.0063 | -50 | c.222 others(69): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132180530 | TGTGTGTG others(43): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG01109.hp1 HG01255.hp1 others(7): Show |
a0001a0002a0004others(2): Show | a0001c0006a0002c0005a0004c0046others(3): Show | a0001c0006t0035a0002c0005t0011a0004c0046t0007others(5): Show | a0001c0006t0035g0057a0002c0005t0011g0096a0004c0046t0007g0091others(7): Show | 10 | 158 | 0.0633 | -50 | c.*11 others(71): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JMY_chr5_79231131_79332211 | 79270564 | ATTTAAAA others(43): Show |
A | intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0281 | 1 | 342 | 0.0029 | -50 | c.103 others(69): Show |
JMY | ENSG00000152409.9 | transcript | ENST00000396137.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KATNAL1_chr13_30197630_30312551 | 30270029 | TGTCAGCC others(43): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp2 HG02895.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0034a0001c0001t0053a0001c0001t0115others(2): Show | a0001c0001t0034g0031a0001c0001t0034g0032a0001c0001t0053g0355others(4): Show | 7 | 386 | 0.0181 | -50 | c.323 others(68): Show |
KATNAL1 | ENSG00000102781.14 | transcript | ENST00000380615.8 | protein_coding | 3/10 | chr13 | TogoVar | |||||||
KATNB1_chr16_57730770_57762244 | 57745294 | ACCTGAGG others(43): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(341): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0012others(222): Show | 344 | 402 | 0.8557 | -50 | c.289 others(65): Show |
KATNB1 | ENSG00000140854.13 | transcript | ENST00000379661.8 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 15050016 | CAGAGTAG others(43): Show |
C | intron_variant | MODIFIER | HG01258.hp2 HG02055.hp1 HG02109.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0002g0006a0001c0001t0002g0046a0001c0001t0002g0092others(9): Show | 12 | 146 | 0.0822 | -50 | c.726 others(67): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNH7_chr2_162366407_162843767 | 162752903 | AAAAAGAA others(43): Show |
A | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0042 | 1 | 100 | 0.0100 | -50 | c.307 others(69): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 2/15 | chr2 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21234476 | GTACATAT others(43): Show |
G | intron_variant | MODIFIER | HG01433.hp2 HG02647.hp2 HG02886.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0064a0001c0001t0001g0070a0001c0001t0004g0025others(5): Show | 8 | 80 | 0.1000 | -50 | c.62- others(69): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21714786 | ATTATTTT others(43): Show |
A | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0050 | 1 | 80 | 0.0125 | -50 | c.61+ others(69): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37717340 | TGGAGGCA others(43): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00558.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0010a0001c0001t0073a0001c0001t0110others(15): Show | a0001c0001t0010g0002a0001c0001t0073g0106a0001c0001t0110g0074others(15): Show | 18 | 198 | 0.0909 | -50 | c.26- others(65): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 2/3 | chr21 | TogoVar |