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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
INSYN2B_chr5_169856303_169985495 | 169869560 | CCTTATAA others(28): Show |
C | intron_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0002 | a0002c0002t0017 | a0002c0002t0017g0100 | 1 | 316 | 0.0032 | -35 | c.142 others(54): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 3/3 | chr5 | TogoVar | |||||||
INTS1_chr7_1465277_1509389 | 1484943 | ACCCCGTC others(28): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02572.hp1 HG02630.hp1 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0043 a0001c0006t0005g0225 a0001c0006t0005g0226 |
4 | 128 | 0.0313 | -35 | c.326 others(52): Show |
INTS1 | ENSG00000164880.16 | transcript | ENST00000404767.8 | protein_coding | 24/47 | chr7 | TogoVar | |||||||
IQANK1_chr8_143729139_143795645 | 143776004 | GGGCCGGG others(28): Show |
G | intron_variant | MODIFIER | HG01175.hp1 HG02486.hp2 HG03139.hp2 others(2): Show |
a0001a0007a0011 | a0001c0001a0007c0007a0011c0012 | a0001c0001t0001a0007c0007t0001a0011c0012t0001 | a0001c0001t0001g0338 a0007c0007t0001g0015 a0011c0012t0001g0339 others(2): Show |
5 | 348 | 0.0144 | -35 | c.789 others(52): Show |
IQANK1 | ENSG00000203499.12 | transcript | ENST00000527139.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
IQCM_chr4_149346709_149820843 | 149391198 | TACATATT others(28): Show |
T | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0032 | 1 | 250 | 0.0040 | -35 | c.139 others(56): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 13/13 | chr4 | TogoVar | |||||||
IQCM_chr4_149346709_149820843 | 149420987 | CATAATTA others(28): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00558.hp1 others(148): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0018 others(148): Show |
151 | 250 | 0.6040 | -35 | c.139 others(56): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 13/13 | chr4 | TogoVar | |||||||
IQCM_chr4_149346709_149820843 | 149638897 | TAGTTTTG others(28): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(169): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0018 others(169): Show |
172 | 250 | 0.6880 | -35 | c.566 others(54): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 7/13 | chr4 | TogoVar | |||||||
IQGAP2_chr5_76398285_76713132 | 76436489 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG03195.hp1 others(4): Show |
a0001a0002a0003others(3): Show | a0001c0002a0002c0006a0003c0004others(4): Show | a0001c0002t0002a0002c0006t0001a0003c0004t0009others(4): Show | a0001c0002t0002g0111 a0002c0006t0001g0128 a0003c0004t0009g0118 others(4): Show |
7 | 208 | 0.0337 | -35 | c.47- others(52): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IQGAP2_chr5_76398285_76713132 | 76436491 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG02622.hp1 HG02965.hp1 |
a0002a0005a0023 | a0002c0001a0005c0008a0023c0051 | a0002c0001t0004a0005c0008t0001a0023c0051t0002 | a0002c0001t0004g0206 a0005c0008t0001g0207 a0023c0051t0002g0112 |
3 | 217 | 0.0138 | -35 | c.47- others(52): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IQGAP2_chr5_76398285_76713132 | 76436493 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0024 | a0024c0054 | a0024c0054t0001 | a0024c0054t0001g0208 | 1 | 216 | 0.0046 | -35 | c.47- others(52): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IQGAP2_chr5_76398285_76713132 | 76496742 | TTTCTTTC others(28): Show |
T | intron_variant | MODIFIER | HG01167.hp2 | a0005 | a0005c0008 | a0005c0008t0004 | a0005c0008t0004g0146 | 1 | 218 | 0.0046 | -35 | c.146 others(54): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IRF2_chr4_184382729_184479550 | 184430268 | CTGTATGC others(28): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG01099.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0002t0001 | a0001c0001t0002g0054 a0001c0001t0002g0061 a0001c0001t0002g0234 others(5): Show |
8 | 370 | 0.0216 | -35 | c.-6- others(50): Show |
IRF2 | ENSG00000168310.12 | transcript | ENST00000393593.8 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
IRF2_chr4_184382729_184479550 | 184430283 | TGTCTGGC others(28): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01255.hp1 HG01433.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0194 a0001c0001t0001g0209 a0001c0001t0003g0023 others(11): Show |
14 | 306 | 0.0458 | -35 | c.-6- others(50): Show |
IRF2 | ENSG00000168310.12 | transcript | ENST00000393593.8 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
IRX4_chr5_1872413_1887925 | 1876560 | AGGCAAGG others(28): Show |
A | downstream_gene_variant | MODIFIER | HG02965.hp1 HG03516.hp2 NA19240.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0005 a0001c0004t0001g0026 |
3 | 434 | 0.0069 | -35 | c.*13 others(46): Show |
IRX4 | ENSG00000113430.10 | transcript | ENST00000231357.7 | protein_coding | 852 | chr5 | TogoVar | |||||||
ISOC2_chr19_55447985_55466642 | 55455873 | AGGGTCTG others(28): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG01167.hp2 others(36): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0100 a0001c0001t0001g0125 a0001c0001t0001g0151 others(26): Show |
39 | 229 | 0.1703 | -35 | c.139 others(48): Show |
ISOC2 | ENSG00000063241.8 | transcript | ENST00000425675.7 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ITGA6_chr2_172422586_172511459 | 172501277 | TGGCATTT others(28): Show |
T | intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0176 | 1 | 349 | 0.0029 | -35 | c.323 others(54): Show |
ITGA6 | ENSG00000091409.16 | transcript | ENST00000442250.6 | protein_coding | 25/25 | chr2 | TogoVar | |||||||
ITGA8_chr10_15508954_15724922 | 15694230 | TGATAATA others(28): Show |
T | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0216 | 1 | 218 | 0.0046 | -35 | c.344 others(52): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 2/29 | chr10 | TogoVar | |||||||
ITGA9_chr3_37447141_37828507 | 37526298 | TAGGTAGG others(28): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG02572.hp1 HG03195.hp2 others(3): Show |
a0002a0009 | a0002c0002a0002c0010a0002c0011others(1): Show | a0002c0002t0005a0002c0002t0010a0002c0002t0026others(3): Show | a0002c0002t0005g0050 a0002c0002t0010g0087 a0002c0002t0026g0052 others(3): Show |
6 | 166 | 0.0361 | -35 | c.137 others(52): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 13/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31296580 | TATGAGGC others(28): Show |
T | intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 242 | 0.0041 | -35 | c.135 others(52): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 12/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31334551 | CTTCCTCC others(28): Show |
C | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02145.hp1 others(17): Show |
a0001a0007 | a0001c0005a0007c0012 | a0001c0005t0004a0007c0012t0004 | a0001c0005t0004g0002 a0001c0005t0004g0148 a0001c0005t0004g0149 others(16): Show |
20 | 238 | 0.0840 | -35 | c.*28 others(46): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1675 | chr16 | TogoVar | |||||||
ITGB2_chr21_44880953_44925899 | 44912781 | ACCCCAGG others(28): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(59): Show |
a0001a0008 | a0001c0005a0001c0007a0001c0009others(7): Show | a0001c0005t0001a0001c0005t0002a0001c0005t0003others(18): Show | a0001c0005t0001g0016 a0001c0005t0001g0153 a0001c0005t0001g0205 others(56): Show |
62 | 433 | 0.1432 | -35 | c.-3- others(50): Show |
ITGB2 | ENSG00000160255.19 | transcript | ENST00000652462.1 | protein_coding | 1/15 | chr21 | TogoVar | |||||||
ITGB2_chr21_44880953_44925899 | 44912804 | AGCTTCAG others(28): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG02809.hp2 HG02897.hp2 others(1): Show |
a0001a0002a0005 | a0001c0001a0002c0036a0002c0037others(1): Show | a0001c0001t0008a0002c0036t0004a0002c0037t0004others(1): Show | a0001c0001t0008g0226 a0002c0036t0004g0279 a0002c0037t0004g0348 others(1): Show |
4 | 138 | 0.0290 | -35 | c.-3- others(50): Show |
ITGB2 | ENSG00000160255.19 | transcript | ENST00000652462.1 | protein_coding | 1/15 | chr21 | TogoVar | |||||||
ITIH2_chr10_7698316_7754520 | 7719923 | AAAGTGTG others(28): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01496.hp1 HG01517.hp1 others(3): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0001 | a0001c0001t0001g0072 a0005c0006t0001g0245 a0005c0006t0001g0246 others(3): Show |
6 | 138 | 0.0435 | -35 | c.631 others(50): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITIH5_chr10_7554270_7671966 | 7566801 | AGGAAGAG others(28): Show |
A | intron_variant | MODIFIER | HG02965.hp2 HG02970.hp2 HG03540.hp1 |
a0007 | a0007c0011a0007c0065 | a0007c0011t0007a0007c0011t0030a0007c0065t0007 | a0007c0011t0007g0083 a0007c0011t0030g0260 a0007c0065t0007g0147 |
3 | 309 | 0.0097 | -35 | c.215 others(52): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 12/13 | chr10 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26738387 | GAACAGAG others(28): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG01192.hp1 HG02922.hp2 |
a0001 | a0001c0008a0001c0015 | a0001c0008t0037a0001c0015t0004a0001c0015t0044 | a0001c0008t0037g0018 a0001c0015t0004g0032 a0001c0015t0044g0106 |
3 | 140 | 0.0214 | -35 | c.164 others(54): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 2/56 | chr12 | TogoVar | |||||||
ITSN1_chr21_33637501_33904861 | 33902332 | AGCCTCAG others(28): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0066 a0001c0001t0022g0236 |
2 | 237 | 0.0084 | -35 | c.*14 others(48): Show |
ITSN1 | ENSG00000205726.15 | transcript | ENST00000381318.8 | protein_coding | 2472 | chr21 | TogoVar | |||||||
ITSN1_chr21_33637501_33904861 | 33902396 | TTGAGGGG others(28): Show |
T | downstream_gene_variant | MODIFIER | HG01934.hp2 HG01952.hp1 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0028 a0001c0001t0019g0080 |
2 | 240 | 0.0083 | -35 | c.*14 others(48): Show |
ITSN1 | ENSG00000205726.15 | transcript | ENST00000381318.8 | protein_coding | 2536 | chr21 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132115189 | AGGTCACC others(28): Show |
A | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0006 | a0001c0006t0016 | a0001c0006t0016g0147 | 1 | 128 | 0.0078 | -35 | c.136 others(52): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132115223 | CGGGTCAC others(28): Show |
C | intron_variant | MODIFIER | HG04184.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0013 | 1 | 154 | 0.0065 | -35 | c.136 others(52): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132167807 | ACCCCTCA others(28): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02451.hp2 HG02895.hp1 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0016a0004c0024 | a0001c0001t0006a0002c0016t0006a0002c0016t0013others(1): Show | a0001c0001t0006g0006 a0002c0016t0006g0052 a0002c0016t0006g0099 others(3): Show |
6 | 156 | 0.0385 | -35 | c.*23 others(50): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132187334 | CGGCCCGG others(28): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(78): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0013others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(44): Show | a0001c0001t0001g0117 a0001c0001t0002g0026 a0001c0001t0002g0105 others(78): Show |
81 | 143 | 0.5664 | -35 | c.*60 others(46): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 2477 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63337550 | CAAGAAAA others(28): Show |
C | intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 233 | 0.0043 | -35 | c.333 others(54): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JPH2_chr20_44101590_44192188 | 44134657 | AATATATA others(28): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG02155.hp2 HG02572.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0077a0001c0003t0001a0001c0006t0022others(6): Show | a0001c0001t0077g0184 a0001c0003t0001g0219 a0001c0006t0022g0037 others(7): Show |
10 | 328 | 0.0305 | -35 | c.117 others(56): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
KANK1_chr9_499695_751103 | 532168 | AACAGAGA others(28): Show |
A | intron_variant | MODIFIER | NA18949.hp2 NA18971.hp1 |
a0001a0032 | a0001c0061a0032c0052 | a0001c0061t0001a0032c0052t0003 | a0001c0061t0001g0125 a0032c0052t0003g0039 |
2 | 252 | 0.0079 | -35 | c.-84 others(54): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KANK4_chr1_62231165_62324434 | 62321525 | ATTGTGAG others(28): Show |
A | upstream_gene_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0039 | 1 | 320 | 0.0031 | -35 | c.-25 others(46): Show |
KANK4 | ENSG00000132854.19 | transcript | ENST00000371153.9 | protein_coding | 2092 | chr1 | TogoVar | |||||||
KANSL1L_chr2_210016421_210176409 | 210069789 | CTTTTTTT others(28): Show |
C | intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 98 | 0.0102 | -35 | c.175 others(54): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 6/14 | chr2 | TogoVar | |||||||
KANSL1L_chr2_210016421_210176409 | 210174915 | CCTATCCT others(28): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00438.hp1 others(123): Show |
a0001a0004a0005 | a0001c0001a0001c0006a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0001g0040 others(123): Show |
126 | 148 | 0.8514 | -35 | c.-38 others(46): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 3507 | chr2 | TogoVar | |||||||
KAT2B_chr3_20035446_20159404 | 20106980 | TATATATA others(28): Show |
T | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0324 | 1 | 372 | 0.0027 | -35 | c.852 others(52): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 5/17 | chr3 | TogoVar | |||||||
KAT2B_chr3_20035446_20159404 | 20106985 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0313 | 1 | 366 | 0.0027 | -35 | c.852 others(52): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20106987 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0136 | 1 | 325 | 0.0031 | -35 | c.852 others(52): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20106989 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG03453.hp2 HG03579.hp2 others(4): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0005a0002c0003t0003 | a0001c0002t0005g0012 a0001c0002t0005g0038 a0001c0002t0005g0039 others(4): Show |
7 | 292 | 0.0240 | -35 | c.852 others(52): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20106991 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG02698.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0086 a0001c0002t0002g0224 |
2 | 340 | 0.0059 | -35 | c.852 others(52): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14918688 | AAAAAAAA others(28): Show |
A | intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 141 | 0.0071 | -35 | c.227 others(54): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14918692 | AAAAAAAA others(28): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG01071.hp1 HG01106.hp2 others(13): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0010others(8): Show | a0001c0001t0002g0006 a0001c0001t0002g0145 a0001c0001t0007g0111 others(13): Show |
16 | 117 | 0.1368 | -35 | c.227 others(54): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14918694 | AAAAAAAA others(28): Show |
A | intron_variant | MODIFIER | NA18612.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0024 | 1 | 141 | 0.0071 | -35 | c.227 others(54): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 15050024 | AGTAGGGT others(28): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG03471.hp2 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0125 a0001c0003t0004g0141 |
2 | 137 | 0.0146 | -35 | c.726 others(52): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNAB2_chr1_6040888_6106180 | 6043265 | GCCAGCTC others(28): Show |
G | upstream_gene_variant | MODIFIER | HG01515.hp1 HG01517.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0148 a0001c0002t0001g0201 |
2 | 358 | 0.0056 | -35 | c.-29 others(46): Show |
KCNAB2 | ENSG00000069424.16 | transcript | ENST00000378083.8 | protein_coding | 2622 | chr1 | TogoVar | |||||||
KCNAB2_chr1_6040888_6106180 | 6081608 | CGGGGGAG others(28): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02886.hp1 HG03486.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0005 | a0001c0001t0006g0262 a0001c0001t0006g0263 a0001c0002t0005g0163 |
3 | 358 | 0.0084 | -35 | c.301 others(50): Show |
KCNAB2 | ENSG00000069424.16 | transcript | ENST00000378083.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNC3_chr19_50306937_50334377 | 50319386 | GCTCACCT others(28): Show |
G | intron_variant | MODIFIER | NA19001.hp1 | a0013 | a0013c0014 | a0013c0014t0032 | a0013c0014t0032g0147 | 1 | 378 | 0.0026 | -35 | c.*23 others(50): Show |
KCNC3 | ENSG00000131398.15 | transcript | ENST00000477616.2 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21291900 | AAAGAAAG others(28): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG02965.hp2 HG03579.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0022 a0001c0001t0001g0051 a0001c0001t0002g0020 others(1): Show |
4 | 80 | 0.0500 | -35 | c.62- others(54): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21400512 | CCTCTTCT others(28): Show |
C | intron_variant | MODIFIER | HG01433.hp2 HG02145.hp1 HG02809.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0011a0001c0002t0001 | a0001c0001t0001g0013 a0001c0001t0001g0054 a0001c0001t0001g0066 others(3): Show |
6 | 43 | 0.1395 | -35 | c.62- others(54): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar |