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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DGKQ_chr4_953887_978569 | 975748 | CCTCTGCC others(109): Show |
C | upstream_gene_variant | MODIFIER | HG02922.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0040 | 2 | 438 | 0.0046 | -116 | c.-23 others(11): Show |
DGKQ | ENSG00000145214.14 | transcript | ENST00000273814.8 | protein_coding | 2180 | chr4 | TogoVar | |||||||
DIRAS1_chr19_2709567_2726372 | 2713709 | CCCGTCAC others(109): Show |
C | downstream_gene_variant | MODIFIER | HG03225.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0031 | 2 | 412 | 0.0049 | -116 | c.*33 others(11): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 857 | chr19 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13453399 | TATGTGTA others(109): Show |
T | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0014 | 1 | 212 | 0.0047 | -116 | c.102 others(21): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 2/17 | chr8 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13453402 | GTGTATAT others(109): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG03490.hp2 HG03492.hp2 |
a0001a0006 | a0001c0004a0006c0007 | a0001c0004t0003a0006c0007t0001 | a0001c0004t0003g0120 a0006c0007t0001g0163 a0006c0007t0001g0164 |
3 | 212 | 0.0142 | -116 | c.102 others(21): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 2/17 | chr8 | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 33190885 | TAATATTA others(109): Show |
T | intron_variant | MODIFIER | HG03130.hp1 NA18522.hp1 |
a0002a0014 | a0002c0020a0014c0051 | a0002c0020t0030a0014c0051t0011 | a0002c0020t0030g0125 a0014c0051t0011g0121 |
2 | 126 | 0.0159 | -116 | c.31+ others(17): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137565250 | ACTGTCTG others(109): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG01123.hp1 HG02280.hp2 others(9): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0008t0002 | a0001c0001t0002g0019 a0001c0001t0002g0257 a0001c0001t0002g0258 others(8): Show |
12 | 340 | 0.0353 | -116 | c.641 others(14): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137565305 | GTGACTGT others(109): Show |
G | intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0142 | 1 | 340 | 0.0029 | -116 | c.641 others(15): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137565388 | TGGGTGAC others(109): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG01891.hp2 HG02055.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0169 others(2): Show |
5 | 340 | 0.0147 | -116 | c.641 others(15): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137565752 | TCTGTCTG others(109): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG02258.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0142 a0001c0001t0002g0276 a0001c0001t0002g0288 |
3 | 340 | 0.0088 | -116 | c.641 others(15): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137565774 | GGGGTGAC others(109): Show |
G | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 340 | 0.0029 | -116 | c.641 others(15): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137565804 | GGGGTGAC others(109): Show |
G | intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 340 | 0.0029 | -116 | c.641 others(15): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137565898 | TCTGTCTG others(109): Show |
T | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 340 | 0.0029 | -116 | c.641 others(15): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137566132 | TCTGTCTG others(109): Show |
T | intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 340 | 0.0029 | -116 | c.641 others(16): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137566190 | TCTGTCTG others(109): Show |
T | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0296 | 1 | 340 | 0.0029 | -116 | c.641 others(17): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137566242 | GGGGTGAC others(109): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG02818.hp1 |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0001a0005c0010t0001 | a0001c0001t0001g0084 a0005c0010t0001g0148 |
2 | 340 | 0.0059 | -116 | c.641 others(17): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137566278 | TCTGTCTG others(109): Show |
T | intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 340 | 0.0029 | -116 | c.641 others(17): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137566784 | TCTGTCTG others(109): Show |
T | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0306 | 1 | 340 | 0.0029 | -116 | c.641 others(17): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137567190 | GGGGTGAC others(109): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG02080.hp1 HG02738.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0001 | a0001c0001t0001g0129 a0001c0001t0001g0162 a0001c0001t0001g0183 others(2): Show |
5 | 340 | 0.0147 | -116 | c.641 others(17): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137567520 | TGTCTGTG others(109): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0226 a0001c0001t0002g0025 |
2 | 340 | 0.0059 | -116 | c.641 others(17): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
ELL2_chr5_95880098_95966851 | 95927662 | CGTGTGTA others(109): Show |
C | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0219 | 1 | 314 | 0.0032 | -116 | c.196 others(17): Show |
ELL2 | ENSG00000118985.16 | transcript | ENST00000237853.9 | protein_coding | 2/11 | chr5 | TogoVar | |||||||
ERBIN_chr5_65921575_66087546 | 66018443 | TATAATAT others(109): Show |
T | intron_variant | MODIFIER | HG02559.hp1 | a0012 | a0012c0026 | a0012c0026t0001 | a0012c0026t0001g0087 | 1 | 306 | 0.0033 | -116 | c.534 others(17): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 7/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ETS1_chr11_128453765_128592558 | 128585077 | AGAAAGAA others(109): Show |
A | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0137 | 1 | 286 | 0.0035 | -116 | c.-15 others(17): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
ETV6_chr12_11644674_11900377 | 11874537 | CGTGTGTA others(109): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00558.hp2 others(161): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(103): Show | a0001c0001t0001g0040 a0001c0001t0001g0051 a0001c0001t0001g0079 others(161): Show |
164 | 262 | 0.6260 | -116 | c.100 others(19): Show |
ETV6 | ENSG00000139083.11 | transcript | ENST00000396373.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137394146 | TTTCCCTA others(109): Show |
T | intron_variant | MODIFIER | HG01993.hp1 HG02280.hp2 HG03017.hp1 others(3): Show |
a0001a0002a0024others(1): Show | a0001c0001a0002c0002a0024c0023others(1): Show | a0001c0001t0001a0002c0002t0001a0024c0023t0001others(1): Show | a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 others(3): Show |
6 | 82 | 0.0732 | -116 | c.55+ others(15): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 2/21 | chr9 | TogoVar | |||||||
EXOC3L4_chr14_103089725_103115559 | 103109573 | TCTCCCTC others(109): Show |
T | intron_variant | MODIFIER | HG03516.hp2 NA19074.hp2 |
a0002 | a0002c0005a0002c0034 | a0002c0005t0002a0002c0034t0001 | a0002c0005t0002g0288 a0002c0034t0001g0249 |
2 | 404 | 0.0050 | -116 | c.197 others(17): Show |
EXOC3L4 | ENSG00000205436.8 | transcript | ENST00000688303.1 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FMN1_chr15_32760544_33199714 | 32777788 | TATATATT others(109): Show |
T | intron_variant | MODIFIER | HG02129.hp1 | a0003 | a0003c0091 | a0003c0091t0002 | a0003c0091t0002g0096 | 1 | 196 | 0.0051 | -116 | c.413 others(17): Show |
FMN1 | ENSG00000248905.10 | transcript | ENST00000616417.5 | protein_coding | 19/20 | chr15 | TogoVar | |||||||
FMN1_chr15_32760544_33199714 | 32777817 | TTTATATA others(109): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00738.hp2 others(26): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0050others(12): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0034others(20): Show | a0001c0001t0001g0013 a0001c0001t0001g0050 a0001c0001t0001g0066 others(26): Show |
29 | 196 | 0.1480 | -116 | c.413 others(18): Show |
FMN1 | ENSG00000248905.10 | transcript | ENST00000616417.5 | protein_coding | 19/20 | chr15 | TogoVar | |||||||
FMN1_chr15_32760544_33199714 | 32949940 | CATATATA others(109): Show |
C | intron_variant | MODIFIER | NA20300.hp2 | a0008 | a0008c0009 | a0008c0009t0006 | a0008c0009t0006g0064 | 1 | 196 | 0.0051 | -116 | c.313 others(21): Show |
FMN1 | ENSG00000248905.10 | transcript | ENST00000616417.5 | protein_coding | 9/20 | chr15 | TogoVar | |||||||
FNIP1_chr5_131636714_131802017 | 131785029 | CATATATA others(109): Show |
C | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0322 | 1 | 328 | 0.0031 | -116 | c.92+ others(17): Show |
FNIP1 | ENSG00000217128.13 | transcript | ENST00000510461.6 | protein_coding | 1/17 | chr5 | TogoVar | |||||||
GABRA2_chr4_46238548_46395128 | 46377139 | CCTCTGCC others(109): Show |
C | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0063 | 1 | 258 | 0.0039 | -116 | c.187 others(17): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 3/9 | chr4 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241802241 | GGAATGAG others(109): Show |
G | intron_variant | MODIFIER | HG03942.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0117 | 1 | 314 | 0.0032 | -116 | c.375 others(15): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241805186 | GCCAGGGA others(109): Show |
G | downstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 314 | 0.0032 | -116 | c.*10 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 900 | chr2 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241805284 | CCTTCCCT others(109): Show |
C | downstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 314 | 0.0032 | -116 | c.*11 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 998 | chr2 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241807379 | CCCCCCTC others(109): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 314 | 0.0032 | -116 | c.*32 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3093 | chr2 | TogoVar | |||||||
GALNT17_chr7_71127144_71718599 | 71680263 | CCTCCCTT others(109): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00642.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0032 a0001c0001t0001g0041 a0001c0001t0001g0044 others(20): Show |
23 | 76 | 0.3026 | -116 | c.150 others(19): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GATA5_chr20_62458497_62480995 | 62476920 | TCTTTCTT others(109): Show |
T | upstream_gene_variant | MODIFIER | HG00609.hp1 HG02630.hp2 HG02896.hp2 |
a0001 | a0001c0004 | a0001c0004t0003a0001c0004t0005a0001c0004t0007 | a0001c0004t0003g0287 a0001c0004t0005g0279 a0001c0004t0007g0282 |
3 | 382 | 0.0079 | -116 | c.-11 others(11): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 926 | chr20 | TogoVar | |||||||
GIPC2_chr1_78040966_78143444 | 78061615 | TTCAGCCT others(109): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00639.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0044 a0001c0001t0003g0050 a0001c0001t0003g0053 others(28): Show |
32 | 332 | 0.0964 | -116 | c.240 others(19): Show |
GIPC2 | ENSG00000137960.6 | transcript | ENST00000370759.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GPAA1_chr8_144077634_144091216 | 144089564 | ACATATAC others(109): Show |
A | downstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 1 | 338 | 0.0030 | -116 | c.*34 others(11): Show |
GPAA1 | ENSG00000197858.12 | transcript | ENST00000355091.9 | protein_coding | 3349 | chr8 | TogoVar | |||||||
GPR68_chr14_91227532_91249704 | 91244823 | CCAGCCAG others(109): Show |
C | upstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 420 | 0.0024 | -116 | c.-77 others(9): Show |
GPR68 | ENSG00000119714.11 | transcript | ENST00000650645.1 | protein_coding | 120 | chr14 | TogoVar | |||||||
GPSM1_chr9_136322539_136364601 | 136352168 | AATGCTGC others(109): Show |
A | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0153 |
3 | 400 | 0.0075 | -116 | c.145 others(19): Show |
GPSM1 | ENSG00000160360.13 | transcript | ENST00000440944.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GRIN1_chr9_137134154_137173756 | 137144829 | TAGAAAGT others(109): Show |
T | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 298 | 0.0034 | -116 | c.394 others(15): Show |
GRIN1 | ENSG00000176884.17 | transcript | ENST00000371561.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GRIN1_chr9_137134154_137173756 | 137145092 | TGAGAGGA others(109): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0197 a0001c0003t0001g0195 a0001c0003t0001g0196 |
3 | 298 | 0.0101 | -116 | c.394 others(15): Show |
GRIN1 | ENSG00000176884.17 | transcript | ENST00000371561.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GRIN2D_chr19_48388668_48449931 | 48430429 | CCTCAAGT others(109): Show |
C | intron_variant | MODIFIER | HG02615.hp2 HG02622.hp2 HG02723.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 others(2): Show |
5 | 366 | 0.0137 | -116 | c.225 others(19): Show |
GRIN2D | ENSG00000105464.4 | transcript | ENST00000263269.4 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GTF3C2_chr2_27320854_27361764 | 27359344 | AGTGAGGA others(109): Show |
A | upstream_gene_variant | MODIFIER | HG00733.hp2 HG01167.hp1 HG02257.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0152 a0001c0001t0001g0159 a0001c0002t0001g0151 others(6): Show |
9 | 286 | 0.0315 | -116 | c.-27 others(11): Show |
GTF3C2 | ENSG00000115207.15 | transcript | ENST00000264720.8 | protein_coding | 2581 | chr2 | TogoVar | |||||||
GYG2_chrX_2823930_2887818 | 2845015 | ATGTGTAT others(109): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG04204.hp1 NA18998.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0004t0001g0103 |
3 | 316 | 0.0095 | -116 | c.149 others(17): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
HDLBP_chr2_241222291_241320672 | 241243534 | GGCCTGGT others(109): Show |
G | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0114 a0002c0002t0001g0115 |
2 | 354 | 0.0057 | -116 | c.195 others(17): Show |
HDLBP | ENSG00000115677.18 | transcript | ENST00000310931.10 | protein_coding | 16/27 | chr2 | TogoVar | |||||||
IL3RA_chrX_1331785_1387689 | 1365358 | GGGGTGAG others(109): Show |
G | intron_variant | MODIFIER | NA19056.hp2 | a0013 | a0013c0010 | a0013c0010t0001 | a0013c0010t0001g0007 | 1 | 115 | 0.0087 | -116 | c.874 others(15): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
INMT_chr7_30747135_30762602 | 30760593 | ACTGATGG others(109): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp2 | a0009 | a0009c0012 | a0009c0012t0008 | a0009c0012t0008g0009 | 1 | 434 | 0.0023 | -116 | c.*47 others(11): Show |
INMT | ENSG00000241644.2 | transcript | ENST00000013222.5 | protein_coding | 2992 | chr7 | TogoVar | |||||||
INO80D_chr2_205988721_206091174 | 205988822 | AAAATAAA others(109): Show |
A | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02280.hp2 HG02451.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0049 | a0002c0002t0001g0104 a0002c0002t0001g0128 a0002c0002t0001g0161 others(2): Show |
5 | 334 | 0.0150 | -116 | c.*15 others(13): Show |
INO80D | ENSG00000114933.16 | transcript | ENST00000403263.6 | protein_coding | 4898 | chr2 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132540992 | CCCTCTTG others(109): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01261.hp1 HG01952.hp1 others(6): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0010a0001c0005t0018others(1): Show | a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(6): Show |
9 | 204 | 0.0441 | -116 | c.75+ others(15): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |