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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DLGAP2_chr8_732628_1713476 | 1402924 | GAGTGCTT others(3407): Show |
G | intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0017 | 1 | 40 | 0.0250 | -3414 | c.107 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RAB11B_chr19_8385360_8409434 | 8406021 | TGAGACCA others(3406): Show |
T | downstream_gene_variant | MODIFIER | HG02109.hp2 HG03130.hp1 NA18522.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 | 3 | 428 | 0.0070 | -3413 | c.*24 others(11): Show |
RAB11B | ENSG00000185236.12 | transcript | ENST00000328024.11 | protein_coding | 1588 | chr19 | TogoVar | |||||||
RAB11B_chr19_8385360_8409434 | 8406025 | ACCATCCT others(3402): Show |
A | downstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 | 1 | 428 | 0.0023 | -3409 | c.*24 others(11): Show |
RAB11B | ENSG00000185236.12 | transcript | ENST00000328024.11 | protein_coding | 1592 | chr19 | TogoVar | |||||||
CDH20_chr18_61328430_61560779 | 61518408 | TTCAAGAG others(3400): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02615.hp1 HG02922.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0002a0001c0002t0001a0001c0005t0008others(3): Show | a0001c0001t0002g0233 a0001c0002t0001g0061 a0001c0005t0008g0054 others(3): Show |
6 | 280 | 0.0214 | -3407 | c.101 others(19): Show |
CDH20 | ENSG00000101542.10 | transcript | ENST00000262717.9 | protein_coding | 6/11 | chr18 | TogoVar | |||||||
MYO5B_chr18_49817789_50200147 | 50168609 | GACCCTCC others(3400): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00438.hp1 others(76): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0037others(28): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(38): Show | a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 others(76): Show |
79 | 238 | 0.3319 | -3407 | c.27+ others(17): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | |||||||
LMNB2_chr19_2423166_2461959 | 2450554 | GATCACCT others(3399): Show |
G | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 356 | 0.0028 | -3406 | c.264 others(17): Show |
LMNB2 | ENSG00000176619.13 | transcript | ENST00000325327.4 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1013834 | GTGTGAGA others(3397): Show |
G | intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0021 | 1 | 40 | 0.0250 | -3404 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C7_chr5_40904497_40989643 | 40982040 | AAGAGGAC others(3395): Show |
A | splice_region_variant | LOW | NA19009.hp1 | a0002 | a0002c0002 | a0002c0002t0033 | a0002c0002t0033g0359 | 1 | 380 | 0.0026 | -3402 | c.*47 others(10): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154039263 | TTATCCAA others(3395): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG01081.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(11): Show | a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0002g0106 others(28): Show |
31 | 214 | 0.1449 | -3402 | c.142 others(19): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | chr2 | TogoVar | |||||||
HMGN5_chrX_81108699_81206913 | 81151779 | GATTTTTG others(3394): Show |
G | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 225 | 0.0044 | -3401 | c.-12 others(21): Show |
HMGN5 | ENSG00000198157.11 | transcript | ENST00000358130.7 | protein_coding | 1/6 | chrX | TogoVar | |||||||
RPS23_chr5_82268320_82283354 | 82270256 | CCAGGGCC others(3393): Show |
C | splice_region_variant | LOW | HG01243.hp1 HG01256.hp2 HG02258.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0019a0001c0001t0032 | a0001c0001t0003g0005 a0001c0001t0003g0012 a0001c0001t0003g0022 others(5): Show |
24 | 418 | 0.0574 | -3400 | c.*24 others(11): Show |
RPS23 | ENSG00000186468.13 | transcript | ENST00000296674.13 | protein_coding | 4/4 | chr5 | TogoVar | |||||||
ACOT9_chrX_23696055_23748276 | 23743665 | GGGCAGAT others(3389): Show |
G | upstream_gene_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0145 | 1 | 309 | 0.0032 | -3396 | c.-39 others(10): Show |
ACOT9 | ENSG00000123130.17 | transcript | ENST00000379303.10 | protein_coding | 390 | chrX | TogoVar | |||||||
KLK15_chr19_50820289_50838574 | 50827242 | TGGGCAAC others(3387): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG01099.hp2 HG03225.hp2 |
a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0119 a0007c0008t0001g0236 |
2 | 442 | 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 | a0003c0005t0026g0048 | 1 | 338 | 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 | 268 | 0.0037 | -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 | a0017 | a0017c0023 | a0017c0023t0007 | a0017c0023t0007g0208 | 1 | 328 | 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 | a0001c0001t0003g0205 a0001c0001t0003g0206 |
2 | 364 | 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 | 240 | 0.0083 | -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 | 366 | 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 a0002c0001t0003g0022 a0002c0001t0011g0001 others(2): Show |
5 | 40 | 0.1250 | -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 | 264 | 0.0303 | -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 |
a0000 | a0000c0002 | a0000c0002t0002 | a0000c0002t0002g0004 | 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 |
a0000 | a0000c0003 | a0000c0003t0002 | a0000c0003t0002g0000 | 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 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0004g0001 |
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 | a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0049 others(25): Show |
28 | 396 | 0.0707 | -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 | a0001c0001t0024g0345 a0001c0001t0024g0346 a0001c0001t0024g0357 |
3 | 372 | 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 | 331 | 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(124): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0013others(2): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(35): Show | a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0008 others(119): Show |
127 | 404 | 0.3144 | -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 | 326 | 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 | a0001c0003t0014g0036 a0001c0003t0014g0037 a0001c0003t0014g0038 others(1): Show |
4 | 360 | 0.0111 | -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 a0001c0001t0004g0131 |
2 | 236 | 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 | a0001c0001t0002g0063 a0001c0001t0002g0193 |
2 | 228 | 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 | a0001c0001t0001g0121 | 1 | 254 | 0.0039 | -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 | a0001c0001t0001g0044 a0001c0001t0001g0335 a0001c0001t0001g0336 |
3 | 376 | 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 | a0004 | a0004c0010 | a0004c0010t0001 | a0004c0010t0001g0162 | 1 | 442 | 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 |
a0017 | a0017c0022 | a0017c0022t0002 | a0017c0022t0002g0341 a0017c0022t0002g0342 a0017c0022t0002g0343 others(2): Show |
5 | 401 | 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 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0197 | 1 | 330 | 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 | a0001c0001t0001g0059 a0001c0001t0001g0122 a0001c0001t0001g0124 others(46): Show |
49 | 256 | 0.1914 | -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 | 0.2359 | -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 | a0001c0002t0001g0269 | 1 | 332 | 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 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 414 | 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(160): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0003c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(12): Show | a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0080 others(160): Show |
163 | 302 | 0.5397 | -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 | 234 | 0.0214 | -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 | a0001c0001t0002a0001c0009t0015a0001c0009t0048others(12): Show | a0001c0001t0002g0058 a0001c0009t0015g0011 a0001c0009t0048g0360 others(44): Show |
65 | 422 | 0.1540 | -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 | a0001c0001t0010 | a0001c0001t0010g0012 | 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 | 206 | 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 | a0007 | a0007c0039 | a0007c0039t0001 | a0007c0039t0001g0031 | 1 | 218 | 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 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0261 | 1 | 424 | 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 | a0001c0001t0004g0066 a0001c0001t0006g0070 a0001c0001t0006g0071 others(10): Show |
13 | 332 | 0.0392 | -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 | 360 | 0.0028 | -3293 | c.-41 others(10): Show |
CCAR1 | ENSG00000060339.14 | transcript | ENST00000265872.11 | protein_coding | 4099 | chr10 | TogoVar |