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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HPSE2_chr10_98452077_99240852 | 99132192 | AGAGAGAG others(38): Show |
A | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0088 | 1 | 142 | 0.0070 | -45 | c.610 others(64): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | |||||||
HS3ST4_chr16_25686959_26142685 | 26134004 | GACTGTAT others(38): Show |
G | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0097 | 1 | 164 | 0.0061 | -45 | c.735 others(62): Show |
HS3ST4 | ENSG00000182601.7 | transcript | ENST00000331351.6 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
HSF1_chr8_144286604_144319720 | 144313660 | GCCGCGCC others(38): Show |
G | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 330 | 0.0030 | -45 | c.124 others(60): Show |
HSF1 | ENSG00000185122.11 | transcript | ENST00000528838.6 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
IGF2R_chr6_159964082_160116504 | 160100723 | CCTTTTTT others(38): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG02109.hp2 others(14): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0014others(12): Show | a0001c0001t0001g0301 a0001c0001t0008g0042 a0001c0001t0014g0300 others(14): Show |
17 | 310 | 0.0548 | -45 | c.684 others(64): Show |
IGF2R | ENSG00000197081.16 | transcript | ENST00000356956.6 | protein_coding | 45/47 | chr6 | TogoVar | |||||||
IL17REL_chr22_49986811_50017765 | 49998601 | TTGCATGG others(38): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG01074.hp1 NA18955.hp1 others(1): Show |
a0003a0004 | a0003c0004a0004c0018 | a0003c0004t0016a0004c0018t0016 | a0003c0004t0016g0068 a0003c0004t0016g0071 a0003c0004t0016g0074 others(1): Show |
4 | 440 | 0.0091 | -45 | c.818 others(60): Show |
IL17REL | ENSG00000188263.11 | transcript | ENST00000695950.1 | protein_coding | 9/14 | chr22 | TogoVar | |||||||
IL1RAPL1_chrX_28582446_29961718 | 29335260 | ACGGAGAC others(38): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00621.hp1 others(53): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0003 a0001c0001t0001g0058 a0001c0001t0001g0061 others(53): Show |
56 | 135 | 0.4148 | -45 | c.362 others(64): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 3/10 | chrX | TogoVar | |||||||
IL1RAPL2_chrX_104561199_105772829 | 104761887 | CCTTCTCC others(38): Show |
C | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 141 | 0.0071 | -45 | c.82+ others(64): Show |
IL1RAPL2 | ENSG00000189108.14 | transcript | ENST00000372582.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL1RAPL2_chrX_104561199_105772829 | 104761899 | CCTTCTCC others(38): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0073 a0001c0001t0002g0139 |
2 | 141 | 0.0142 | -45 | c.82+ others(64): Show |
IL1RAPL2 | ENSG00000189108.14 | transcript | ENST00000372582.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL1RAPL2_chrX_104561199_105772829 | 104761905 | CCTTCTCC others(38): Show |
C | intron_variant | MODIFIER | HG02965.hp1 HG03130.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0006g0134 |
3 | 141 | 0.0213 | -45 | c.82+ others(64): Show |
IL1RAPL2 | ENSG00000189108.14 | transcript | ENST00000372582.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1365343 | GTGAGCGG others(38): Show |
G | intron_variant | MODIFIER | HG02922.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0036 a0001c0001t0003g0114 |
2 | 115 | 0.0174 | -45 | c.874 others(59): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1366065 | GGGGTGCG others(38): Show |
G | intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 | 1 | 115 | 0.0087 | -45 | c.874 others(60): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1367266 | AGCCGGGT others(38): Show |
A | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0040 | 1 | 115 | 0.0087 | -45 | c.874 others(62): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1367293 | CGCGGGGT others(38): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG03139.hp1 HG03490.hp2 others(1): Show |
a0001a0006a0009 | a0001c0001a0006c0004a0009c0014 | a0001c0001t0001a0001c0001t0003a0006c0004t0007others(1): Show | a0001c0001t0001g0031 a0001c0001t0003g0021 a0006c0004t0007g0093 others(1): Show |
4 | 115 | 0.0348 | -45 | c.874 others(62): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1367467 | GGGGTGAG others(38): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 | 1 | 115 | 0.0087 | -45 | c.874 others(62): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
INO80D_chr2_205988721_206091174 | 206071257 | CTTTTTTT others(38): Show |
C | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0246 | 1 | 334 | 0.0030 | -45 | c.-12 others(64): Show |
INO80D | ENSG00000114933.16 | transcript | ENST00000403263.6 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
INO80_chr15_40973880_41121280 | 41032028 | CACAGCAC others(38): Show |
C | intron_variant | MODIFIER | HG02074.hp1 HG04204.hp2 |
a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0001 a0001c0004t0011g0002 |
2 | 282 | 0.0071 | -45 | c.290 others(64): Show |
INO80 | ENSG00000128908.19 | transcript | ENST00000648947.1 | protein_coding | 24/35 | chr15 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132611949 | GGGTGTGG others(38): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG03098.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0185 a0001c0005t0001g0186 |
2 | 204 | 0.0098 | -45 | c.117 others(62): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132612088 | AGAGGGAA others(38): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01261.hp2 HG01433.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0157 others(2): Show |
5 | 204 | 0.0245 | -45 | c.117 others(62): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132723556 | CGTGTGGG others(38): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01261.hp1 others(9): Show |
a0001 | a0001c0004a0001c0005 | a0001c0004t0001a0001c0004t0002a0001c0004t0012others(4): Show | a0001c0004t0001g0011 a0001c0004t0001g0012 a0001c0004t0002g0013 others(9): Show |
12 | 204 | 0.0588 | -45 | c.648 others(62): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 8/15 | chr10 | TogoVar | |||||||
INSR_chr19_7107265_7299414 | 7124563 | AAAAAAAA others(38): Show |
A | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0007 | a0001c0007t0040 | a0001c0007t0040g0020 | 1 | 300 | 0.0033 | -45 | c.325 others(62): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 17/21 | chr19 | TogoVar | |||||||
INSR_chr19_7107265_7299414 | 7124569 | AAAAAAAA others(38): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0006 | a0001c0006t0052 | a0001c0006t0052g0037 | 1 | 300 | 0.0033 | -45 | c.325 others(62): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 17/21 | chr19 | TogoVar | |||||||
INTS1_chr7_1465277_1509389 | 1497225 | CTGCTTGA others(38): Show |
C | disruptive_inframe_deletion | MODERATE | HG02056.hp2 | a0011 | a0011c0060 | a0011c0060t0004 | a0011c0060t0004g0209 | 1 | 316 | 0.0032 | -45 | c.147 others(54): Show |
p.Asp others(19): Show |
INTS1 | ENSG00000164880.16 | transcript | ENST00000404767.8 | protein_coding | 11/48 | 1622/6981 | 1470/6573 | 490/2190 | chr7 | TogoVar | |||
IQCF2_chr3_51856615_51868424 | 51861280 | CTTTCACA others(38): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(315): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0004c0004others(3): Show | a0001c0001t0001a0002c0002t0001a0004c0004t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(8): Show |
318 | 426 | 0.7465 | -45 | c.-38 others(54): Show |
IQCF2 | ENSG00000184345.5 | transcript | ENST00000333127.4 | protein_coding | 334 | chr3 | TogoVar | |||||||
IQCG_chr3_197884077_197964991 | 197941329 | TCTCTCTC others(38): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp2 HG02970.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0124 a0001c0003t0003g0127 a0001c0003t0003g0128 others(1): Show |
4 | 280 | 0.0143 | -45 | c.282 others(62): Show |
IQCG | ENSG00000114473.14 | transcript | ENST00000265239.11 | protein_coding | 4/11 | chr3 | TogoVar | |||||||
IQGAP2_chr5_76398285_76713132 | 76496702 | CTCTTTCT others(38): Show |
C | intron_variant | MODIFIER | HG03831.hp2 | a0004 | a0004c0005 | a0004c0005t0008 | a0004c0005t0008g0003 | 1 | 222 | 0.0045 | -45 | c.146 others(64): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ISM1_chr20_13216274_13305651 | 13292733 | CAGAATAA others(38): Show |
C | intron_variant | MODIFIER | HG02004.hp2 | a0002 | a0002c0003 | a0002c0003t0031 | a0002c0003t0031g0235 | 1 | 396 | 0.0025 | -45 | c.877 others(60): Show |
ISM1 | ENSG00000101230.6 | transcript | ENST00000262487.5 | protein_coding | 5/5 | chr20 | TogoVar | |||||||
ITCH_chr20_34358273_34516773 | 34473869 | GTCTGAAC others(38): Show |
G | intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 294 | 0.0034 | -45 | c.156 others(64): Show |
ITCH | ENSG00000078747.17 | transcript | ENST00000374864.10 | protein_coding | 16/24 | chr20 | TogoVar | |||||||
ITGA11_chr15_68291532_68437163 | 68397690 | AAATATTA others(38): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(92): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0003others(40): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(83): Show | a0001c0001t0003g0122 a0001c0001t0003g0161 a0001c0001t0004g0073 others(92): Show |
95 | 242 | 0.3926 | -45 | c.164 others(62): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | |||||||
ITGA1_chr5_52782916_52964209 | 52910963 | ATATATAC others(38): Show |
A | intron_variant | MODIFIER | HG02486.hp1 NA18906.hp2 NA18944.hp2 others(4): Show |
a0001a0002a0003 | a0001c0002a0002c0013a0003c0005others(1): Show | a0001c0002t0020a0002c0013t0044a0003c0005t0001others(3): Show | a0001c0002t0020g0315 a0002c0013t0044g0284 a0003c0005t0001g0220 others(4): Show |
7 | 322 | 0.0217 | -45 | c.185 others(62): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITGA4_chr2_181452386_181543940 | 181534028 | ATATTTAA others(38): Show |
A | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 368 | 0.0027 | -45 | c.278 others(62): Show |
ITGA4 | ENSG00000115232.14 | transcript | ENST00000397033.7 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ITGA6_chr2_172422586_172511459 | 172506220 | ATATGTGA others(38): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0002 | a0001c0002t0028 | a0001c0002t0028g0212 | 1 | 352 | 0.0028 | -45 | c.*19 others(56): Show |
ITGA6 | ENSG00000091409.16 | transcript | ENST00000442250.6 | protein_coding | 26/26 | 1972 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ITGA9_chr3_37447141_37828507 | 37512120 | CTTTCTTT others(38): Show |
C | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG03041.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0005t0001a0001c0005t0017 | a0001c0001t0003g0054 a0001c0005t0001g0150 a0001c0005t0017g0143 |
3 | 168 | 0.0179 | -45 | c.898 others(62): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITIH5_chr10_7554270_7671966 | 7566820 | GGAAGAGG others(38): Show |
G | intron_variant | MODIFIER | NA19007.hp1 | a0004 | a0004c0007 | a0004c0007t0053 | a0004c0007t0053g0323 | 1 | 342 | 0.0029 | -45 | c.215 others(62): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 12/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7566832 | GGAAGAGG others(38): Show |
G | intron_variant | MODIFIER | NA18522.hp1 | a0034 | a0034c0041 | a0034c0041t0061 | a0034c0041t0061g0115 | 1 | 342 | 0.0029 | -45 | c.215 others(62): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 12/13 | chr10 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132168859 | GCCAGCCC others(38): Show |
G | 3_prime_UTR_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0006 | a0001c0006t0025 | a0001c0006t0025g0153 | 1 | 158 | 0.0063 | -45 | c.*93 others(54): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/24 | 1830 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JPH2_chr20_44101590_44192188 | 44134483 | TAATATAT others(38): Show |
T | intron_variant | MODIFIER | HG01071.hp1 HG01109.hp2 HG01123.hp1 others(28): Show |
a0001a0012a0014 | a0001c0001a0001c0003a0012c0025others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(9): Show | a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0005g0301 others(28): Show |
31 | 338 | 0.0917 | -45 | c.117 others(66): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
KANK3_chr19_8317584_8348262 | 8340250 | AGACTCCG others(38): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(121): Show |
a0002a0003a0010others(2): Show | a0002c0002a0003c0003a0003c0011others(5): Show | a0002c0002t0001a0003c0003t0001a0003c0003t0006others(6): Show | a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 others(109): Show |
124 | 406 | 0.3054 | -45 | c.-28 others(62): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46125040 | GGAGGGAG others(38): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG02145.hp1 HG02602.hp2 others(3): Show |
a0003 | a0003c0004 | a0003c0004t0005a0003c0004t0025 | a0003c0004t0005g0309 a0003c0004t0005g0311 a0003c0004t0005g0314 others(3): Show |
6 | 321 | 0.0187 | -45 | c.129 others(66): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | |||||||
KATNAL1_chr13_30197630_30312551 | 30309870 | CATAGCTT others(38): Show |
C | upstream_gene_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0278 | 1 | 386 | 0.0026 | -45 | c.-25 others(56): Show |
KATNAL1 | ENSG00000102781.14 | transcript | ENST00000380615.8 | protein_coding | 2320 | chr13 | TogoVar | |||||||
KAZN_chr1_14593685_15123043 | 15050019 | AGTAGAGT others(38): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG02572.hp2 HG03195.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0003a0001c0001t0020a0001c0003t0018others(1): Show | a0001c0001t0003g0056 a0001c0001t0020g0045 a0001c0003t0018g0123 others(1): Show |
4 | 146 | 0.0274 | -45 | c.726 others(62): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNH7_chr2_162366407_162843767 | 162752903 | AAAAAGAA others(38): Show |
A | intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 100 | 0.0100 | -45 | c.307 others(64): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 2/15 | chr2 | TogoVar | |||||||
KCNIP3_chr2_95292347_95391077 | 95301679 | CCACCAAG others(38): Show |
C | intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0121 | 1 | 298 | 0.0034 | -45 | c.15+ others(60): Show |
KCNIP3 | ENSG00000115041.14 | transcript | ENST00000295225.10 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21291862 | AAAAAAAA others(38): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02647.hp1 HG02698.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0066 a0001c0001t0002g0036 a0001c0001t0004g0067 others(2): Show |
5 | 80 | 0.0625 | -45 | c.62- others(64): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178785208 | ATGAAAAT others(38): Show |
A | intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0169 | 1 | 232 | 0.0043 | -45 | c.-67 others(64): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63409752 | AGGGACTT others(38): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(65): Show |
a0001a0002a0010others(3): Show | a0001c0002a0001c0003a0001c0004others(10): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0010others(32): Show | a0001c0002t0002g0179 a0001c0002t0003g0304 a0001c0002t0010g0118 others(64): Show |
68 | 330 | 0.2061 | -45 | c.176 others(64): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 15/16 | chr20 | TogoVar | |||||||
KCNQ3_chr8_132115861_132486095 | 132187858 | GTGGTGGT others(38): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG01070.hp2 others(46): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0006others(4): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(38): Show | a0001c0001t0004g0074 a0001c0001t0006g0110 a0001c0001t0006g0111 others(46): Show |
49 | 176 | 0.2784 | -45 | c.387 others(62): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
KCNQ5_chr6_72617064_73203853 | 72941704 | CTTTCTTT others(38): Show |
C | intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 80 | 0.0125 | -45 | c.399 others(64): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCNRG_chr13_50010444_50025922 | 50015089 | AAAAAAAT others(38): Show |
A | upstream_gene_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 448 | 0.0022 | -45 | c.-40 others(54): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 354 | chr13 | TogoVar | |||||||
KCTD3_chr1_215562304_215626807 | 215625730 | AATGGGTG others(38): Show |
A | downstream_gene_variant | MODIFIER | HG04199.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 | 1 | 314 | 0.0032 | -45 | c.*51 others(56): Show |
KCTD3 | ENSG00000136636.13 | transcript | ENST00000259154.9 | protein_coding | 3924 | chr1 | TogoVar | |||||||
KIAA1328_chr18_36824127_37230334 | 37000620 | TTAAGAAA others(38): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(196): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0058 a0001c0001t0002g0048 a0001c0001t0002g0091 others(196): Show |
199 | 200 | 0.9950 | -45 | c.576 others(64): Show |
KIAA1328 | ENSG00000150477.15 | transcript | ENST00000280020.10 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |