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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KLK15_chr19_50820289_50838574 | 50827242 | TGGGCAAC others(3387): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG01099.hp2 HG03225.hp2 |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0070 a0005c0006t0001g0118 |
2 | 440 | 0.0045 | -3394 | c.43+ others(13): Show |
KLK15 | ENSG00000174562.14 | transcript | ENST00000598239.6 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
CCNJL_chr5_160244083_160317564 | 160300023 | TGCTTCTG others(3386): Show |
T | intron_variant | MODIFIER | HG02622.hp2 | a0003 | a0003c0005 | a0003c0005t0026 | a0003c0005t0026g0049 | 1 | 336 | 0.0030 | -3393 | c.66+ others(16): Show |
CCNJL | ENSG00000135083.17 | transcript | ENST00000257536.13 | protein_coding | 2/5 | chr5 | TogoVar | |||||||
RBM20_chr10_110639336_110844468 | 110678745 | GCAATAGG others(3383): Show |
G | intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0003 | 1 | 266 | 0.0038 | -3390 | c.191 others(19): Show |
RBM20 | ENSG00000203867.8 | transcript | ENST00000369519.4 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
FBXL13_chr7_102806189_103079796 | 102980818 | ATAGGGAT others(3377): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0014 | a0014c0023 | a0014c0023t0007 | a0014c0023t0007g0208 | 1 | 326 | 0.0031 | -3384 | c.766 others(19): Show |
FBXL13 | ENSG00000161040.19 | transcript | ENST00000440067.4 | protein_coding | 7/20 | chr7 | TogoVar | |||||||
SAXO1_chr9_18922650_19038209 | 19018582 | GTCCCAGG others(3377): Show |
G | intron_variant | MODIFIER | NA18945.hp2 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0204 a0001c0001t0003g0205 |
2 | 362 | 0.0055 | -3384 | c.38+ others(17): Show |
SAXO1 | ENSG00000155875.15 | transcript | ENST00000380534.9 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
STAU2_chr8_73415369_73751840 | 73433229 | GGAGTCTT others(3374): Show |
G | intron_variant | MODIFIER | HG02922.hp1 HG03098.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0084 a0001c0003t0001g0176 |
2 | 238 | 0.0084 | -3381 | c.153 others(21): Show |
STAU2 | ENSG00000040341.18 | transcript | ENST00000524300.6 | protein_coding | 13/14 | chr8 | TogoVar | |||||||
LCLAT1_chr2_30442246_30649225 | 30605951 | GTTCACAG others(3368): Show |
G | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0250 | 1 | 364 | 0.0027 | -3375 | c.629 others(19): Show |
LCLAT1 | ENSG00000172954.14 | transcript | ENST00000379509.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1400219 | TGTCCTCC others(3366): Show |
T | intron_variant | MODIFIER | HG01071.hp2 HG01496.hp1 HG02698.hp2 others(2): Show |
a0001a0002 | a0001c0002a0002c0001a0002c0004 | a0001c0002t0010a0002c0001t0003a0002c0001t0011others(2): Show | a0001c0002t0010g0008 a0002c0001t0003g0021 a0002c0001t0011g0002 others(2): Show |
5 | 31 | 0.1613 | -3373 | c.107 others(20): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CXorf51A_chrX_146809106_146819744 | 146809812 | GCCACAGA others(3365): Show |
G | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG01099.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 8 | 262 | 0.0305 | -3372 | c.*10 others(11): Show |
CXorf51A | ENSG00000224440.2 | transcript | ENST00000458472.2 | protein_coding | 4293 | chrX | TogoVar | |||||||
CXorf51A_chrX_146809106_146819744 | 146811328 | AGGTTTGT others(3365): Show |
A | exon_loss_variant | HIGH | HG01071.hp2 HG02683.hp1 HG02683.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 13 | 264 | 0.0492 | -3372 | c.24_ others(8): Show |
CXorf51A | ENSG00000224440.2 | transcript | ENST00000458472.2 | protein_coding | 2/2 | chrX | TogoVar | |||||||
CXorf51B_chrX_146804771_146815411 | 146809812 | GCCACAGA others(3365): Show |
G | exon_loss_variant | HIGH | HG00323.hp1 HG00323.hp2 HG01099.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 8 | 272 | 0.0294 | -3372 | c.22_ others(8): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 2/2 | 43/451 | chrX | TogoVar | ||||||
CXorf51B_chrX_146804771_146815411 | 146811328 | AGGTTTGT others(3365): Show |
A | downstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01361.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 19 | 272 | 0.0699 | -3372 | c.*10 others(11): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 918 | chrX | TogoVar | |||||||
C2CD2_chr21_41880112_41959018 | 41930007 | GGAGGAAG others(3362): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG01069.hp1 others(25): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0050 others(25): Show |
28 | 394 | 0.0711 | -3369 | c.378 others(17): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 2/13 | chr21 | TogoVar | |||||||
PPP1R21_chr2_48435766_48520386 | 48516960 | ACACTCTG others(3353): Show |
A | downstream_gene_variant | MODIFIER | NA18942.hp1 NA18974.hp1 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0344 a0001c0001t0024g0345 a0001c0001t0024g0356 |
3 | 370 | 0.0081 | -3360 | c.*22 others(11): Show |
PPP1R21 | ENSG00000162869.16 | transcript | ENST00000294952.13 | protein_coding | 1575 | chr2 | TogoVar | |||||||
RPS20_chr8_56068054_56079506 | 56076146 | CACCTCCT others(3353): Show |
C | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02895.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 330 | 0.0091 | -3360 | c.-51 others(11): Show |
RPS20 | ENSG00000008988.11 | transcript | ENST00000009589.8 | protein_coding | 1641 | chr8 | TogoVar | |||||||
VANGL1_chr1_115636970_115703221 | 115686862 | GTTGTATC others(3350): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00544.hp1 others(123): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0013others(2): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(35): Show | a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0017 others(118): Show |
126 | 402 | 0.3134 | -3357 | c.131 others(18): Show |
VANGL1 | ENSG00000173218.15 | transcript | ENST00000355485.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPECC1L_chr22_24265831_24422738 | 24288952 | TACATTGT others(3347): Show |
T | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 324 | 0.0031 | -3354 | c.-38 others(18): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1429787 | GTCTGGTC others(3342): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG02922.hp1 HG03195.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0014a0001c0003t0031 | a0001c0003t0014g0038 a0001c0003t0014g0039 a0001c0003t0014g0040 others(1): Show |
4 | 358 | 0.0112 | -3349 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
ANO4_chr12_100789776_101133629 | 100893109 | TTCTGGGG others(3336): Show |
T | intron_variant | MODIFIER | HG02886.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0042 a0001c0001t0004g0123 |
2 | 234 | 0.0085 | -3343 | c.-14 others(19): Show |
ANO4 | ENSG00000151572.18 | transcript | ENST00000392977.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LRFN2_chr6_40386591_40592364 | 40397763 | ACCCAGAG others(3336): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 a0001c0001t0002g0193 |
2 | 226 | 0.0088 | -3343 | c.140 others(19): Show |
LRFN2 | ENSG00000156564.10 | transcript | ENST00000338305.7 | protein_coding | 2/2 | chr6 | TogoVar | |||||||
MED13L_chr12_115953576_116282693 | 116251441 | TGAGGGAT others(3334): Show |
T | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 252 | 0.0040 | -3341 | c.73- others(17): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | TogoVar | |||||||
GGACT_chr13_100525180_100593789 | 100553169 | CATGGCAA others(3333): Show |
C | intron_variant | MODIFIER | HG00673.hp1 NA18984.hp1 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 a0001c0001t0001g0303 a0001c0001t0001g0304 |
3 | 374 | 0.0080 | -3340 | c.-10 others(19): Show |
GGACT | ENSG00000134864.11 | transcript | ENST00000683975.1 | protein_coding | 2/2 | chr13 | TogoVar | |||||||
SLC6A13_chr12_215622_267836 | 241013 | AGAAAGAA others(3333): Show |
A | exon_loss_variant | HIGH | HG02896.hp1 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0160 | 1 | 440 | 0.0023 | -3340 | c.203 others(16): Show |
SLC6A13 | ENSG00000010379.16 | transcript | ENST00000343164.9 | protein_coding | 4/15 | chr12 | TogoVar | |||||||
TNXB_chr6_32036153_32114338 | 32058155 | AGTGACCT others(3332): Show |
A | conservative_inframe_deletion | MODERATE | HG02280.hp2 HG02615.hp1 HG03130.hp2 others(2): Show |
a0019 | a0019c0022 | a0019c0022t0002 | a0019c0022t0002g0333 a0019c0022t0002g0334 a0019c0022t0002g0335 others(2): Show |
5 | 400 | 0.0125 | -3339 | c.739 others(9): Show |
p.Thr others(15): Show |
TNXB | ENSG00000168477.21 | transcript | ENST00000644971.2 | protein_coding | 21/44 | 7893/13097 | 7395/12735 | 2465/4244 | chr6 | TogoVar | |||
BSCL2_chr11_62685275_62712424 | 62700548 | GGAGAATC others(3331): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG01952.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0176 | 1 | 328 | 0.0030 | -3338 | c.405 others(17): Show |
BSCL2 | ENSG00000168000.16 | transcript | ENST00000360796.10 | protein_coding | 3/11 | chr11 | TogoVar | |||||||
GUCY1A2_chr11_106669019_107023476 | 106915511 | GTCTATCA others(3325): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00673.hp1 others(46): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0063 a0001c0001t0001g0126 a0001c0001t0001g0128 others(46): Show |
49 | 254 | 0.1929 | -3332 | c.120 others(21): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 4/7 | chr11 | TogoVar | |||||||
SNTG1_chr8_49906407_50801692 | 50312422 | TCTAGATA others(3325): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG01071.hp1 HG02055.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0002g0017 a0001c0001t0002g0042 a0001c0001t0003g0019 others(22): Show |
25 | 106 | 0.2358 | -3332 | c.-27 others(19): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ZNF341_chr20_33726996_33797269 | 33792727 | GGTGCCTG others(3311): Show |
G | downstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0267 | 1 | 330 | 0.0030 | -3318 | c.*12 others(11): Show |
ZNF341 | ENSG00000131061.15 | transcript | ENST00000375200.6 | protein_coding | 459 | chr20 | TogoVar | |||||||
OR52B2_chr11_6164355_6175326 | 6168457 | AAGTACTG others(3306): Show |
A | transcript_ablation | HIGH | HG03486.hp1 | a0002 | a0002c0000 | a0002c0000t0000 | a0002c0000t0000g0000 | 1 | 412 | 0.0024 | -3313 | c.-14 others(10): Show |
p.0? | OR52B2 | ENSG00000255307.2 | transcript | ENST00000530810.2 | protein_coding | 1/1 | chr11 | TogoVar | ||||||
FKBP5_chr6_35568590_35693915 | 35658655 | TGGTACAT others(3305): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00597.hp1 others(159): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(12): Show | a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 others(159): Show |
162 | 300 | 0.5400 | -3312 | c.-19 others(19): Show |
FKBP5 | ENSG00000096060.15 | transcript | ENST00000357266.9 | protein_coding | 1/10 | chr6 | TogoVar | |||||||
ZSWIM5_chr1_45011399_45211605 | 45072075 | TCACCAGC others(3303): Show |
T | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG02970.hp1 others(2): Show |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0004 | a0001c0005t0001g0065 a0001c0005t0001g0066 a0001c0005t0001g0067 others(2): Show |
5 | 232 | 0.0216 | -3310 | c.952 others(19): Show |
ZSWIM5 | ENSG00000162415.7 | transcript | ENST00000359600.6 | protein_coding | 2/13 | chr1 | TogoVar | |||||||
ZNF28_chr19_52792408_52826633 | 52813421 | CCCCGTGT others(3298): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(62): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0009a0002c0002others(6): Show | a0001c0001t0002a0001c0009t0013a0001c0009t0045others(11): Show | a0001c0001t0002g0069 a0001c0009t0013g0016 a0001c0009t0045g0339 others(43): Show |
65 | 420 | 0.1548 | -3305 | c.15+ others(15): Show |
ZNF28 | ENSG00000198538.11 | transcript | ENST00000457749.7 | protein_coding | 2/3 | chr19 | TogoVar | |||||||
CDH12_chr5_21745673_22858344 | 21834113 | CTAGTACC others(3297): Show |
C | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0012 | 1 | 60 | 0.0167 | -3304 | c.814 others(17): Show |
CDH12 | ENSG00000154162.15 | transcript | ENST00000382254.6 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
OSBPL1A_chr18_24157052_24402824 | 24336943 | TTCTCCCT others(3294): Show |
T | intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0156 | 1 | 204 | 0.0049 | -3301 | c.394 others(17): Show |
OSBPL1A | ENSG00000141447.19 | transcript | ENST00000319481.8 | protein_coding | 5/27 | chr18 | TogoVar | |||||||
RYR1_chr19_38428691_38592564 | 38435948 | GCCCAGAC others(3294): Show |
G | intron_variant | MODIFIER | HG03471.hp1 | a0008 | a0008c0039 | a0008c0039t0001 | a0008c0039t0001g0031 | 1 | 216 | 0.0046 | -3301 | c.45+ others(15): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TIGIT_chr3_114289028_114315288 | 114294206 | ACTCCAAG others(3293): Show |
A | exon_loss_variant others(4): Show |
HIGH | NA18994.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0217 | 1 | 422 | 0.0024 | -3300 | c.61+ others(14): Show |
TIGIT | ENSG00000181847.12 | transcript | ENST00000383671.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FSTL1_chr3_120387293_120455992 | 120442807 | AAAAGCAG others(3290): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02451.hp1 HG02559.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(1): Show | a0001c0001t0004g0071 a0001c0001t0006g0075 a0001c0001t0006g0076 others(8): Show |
13 | 330 | 0.0394 | -3297 | c.63+ others(15): Show |
FSTL1 | ENSG00000163430.13 | transcript | ENST00000295633.8 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
CCAR1_chr10_68716239_68797377 | 68717139 | TACCACAC others(3286): Show |
T | upstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 358 | 0.0028 | -3293 | c.-41 others(10): Show |
CCAR1 | ENSG00000060339.14 | transcript | ENST00000265872.11 | protein_coding | 4099 | chr10 | TogoVar | |||||||
PATL2_chr15_44660732_44716323 | 44701004 | TTCAGCAT others(3286): Show |
T | intron_variant | MODIFIER | HG01496.hp2 HG02922.hp1 HG03453.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0037 a0003c0003t0002g0038 a0003c0003t0002g0039 others(1): Show |
4 | 260 | 0.0154 | -3293 | c.-76 others(17): Show |
PATL2 | ENSG00000229474.8 | transcript | ENST00000682850.1 | protein_coding | 3/17 | chr15 | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1637186 | GTCCTGTG others(3285): Show |
G | intron_variant | MODIFIER | HG01361.hp1 HG01516.hp1 HG01517.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0123 |
3 | 213 | 0.0141 | -3292 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPNS3_chr17_4428940_4493204 | 4434621 | CGAGTAGC others(3283): Show |
C | intron_variant | MODIFIER | HG01978.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0094 | 1 | 358 | 0.0028 | -3290 | c.199 others(16): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HERPUD2_chr7_35627659_35700135 | 35682072 | TTGTCACC others(3279): Show |
T | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0212 | 1 | 390 | 0.0026 | -3286 | c.147 others(17): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 2/8 | chr7 | TogoVar | |||||||
RBBP8_chr18_22928328_23031486 | 22939976 | GCTTGATT others(3279): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG03130.hp1 |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0301 a0001c0004t0004g0302 |
2 | 328 | 0.0061 | -3286 | c.109 others(17): Show |
RBBP8 | ENSG00000101773.19 | transcript | ENST00000327155.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NIPSNAP1_chr22_29549808_29586113 | 29576088 | AGCTCACT others(3271): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02280.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0214 a0001c0001t0003g0005 a0001c0001t0003g0044 others(2): Show |
13 | 374 | 0.0348 | -3278 | c.98+ others(15): Show |
NIPSNAP1 | ENSG00000184117.12 | transcript | ENST00000216121.12 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 343979 | ACCATCAC others(3271): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(32): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0065 others(32): Show |
35 | 132 | 0.2652 | -3278 | c.-21 others(19): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ANKRD30A_chr10_37120598_37237567 | 37204563 | GTCTTCAT others(3260): Show |
G | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 284 | 0.0035 | -3267 | c.286 others(19): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 31/35 | chr10 | TogoVar | |||||||
ZNF814_chr19_57864381_57894037 | 57879908 | ACGGTGAA others(3258): Show |
A | intron_variant | MODIFIER | NA18984.hp1 NA19072.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0038 | 2 | 432 | 0.0046 | -3265 | c.36+ others(15): Show |
ZNF814 | ENSG00000204514.11 | transcript | ENST00000435989.7 | protein_coding | 1/2 | chr19 | TogoVar | |||||||
IL3RA_chrX_1331785_1387689 | 1368788 | CCTCCAGC others(3257): Show |
C | intron_variant | MODIFIER | HG02451.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 a0001c0001t0001g0105 |
2 | 113 | 0.0177 | -3264 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DLG2_chr11_83450173_85632344 | 83753612 | TTTAAAAT others(3255): Show |
T | intron_variant | MODIFIER | HG02559.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008 | a0001c0001t0006g0012 a0001c0001t0008g0004 |
2 | 14 | 0.1429 | -3262 | c.182 others(21): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 18/27 | chr11 | TogoVar | |||||||
CRLF3_chr17_30777684_30829692 | 30814831 | ATCTCTAC others(3251): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0101 | 1 | 322 | 0.0031 | -3258 | c.129 others(17): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 1/7 | chr17 | TogoVar |