| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RAP1GAP2_chr17_2791438_3042741 | 3000781 | GGGCTCGT others(587): Show |
G | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0189 | 1 | 218 | 0.0046 | -594 | c.120 others(19): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RASA3_chr13_113972783_114137623 | 114083824 | ACGGGGAA others(587): Show |
A | intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0019 | 1 | 67 | 0.0149 | -594 | c.56- others(16): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114086362 | CCGGGGAA others(587): Show |
C | intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0061 | 1 | 67 | 0.0149 | -594 | c.56- others(17): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114086661 | CTCCCTTC others(587): Show |
C | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0012 | 1 | 67 | 0.0149 | -594 | c.56- others(17): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
| RPTOR_chr17_80539838_80971368 | 80743695 | CCCTGGCT others(587): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01074.hp1 HG01167.hp1 others(7): Show |
a0001 | a0001c0004a0001c0010a0001c0011others(4): Show | a0001c0004t0014a0001c0004t0023a0001c0010t0056others(7): Show | a0001c0004t0014g0098a0001c0004t0023g0074a0001c0010t0056g0183others(7): Show | 10 | 196 | 0.0510 | -594 | c.655 others(18): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RPTOR_chr17_80539838_80971368 | 80744358 | CTGTCCTG others(587): Show |
C | intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0063 | a0002c0063t0020 | a0002c0063t0020g0001 | 1 | 196 | 0.0051 | -594 | c.655 others(17): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | chr17 | TogoVar | ||||||
| SCML4_chr6_107697154_107829313 | 107710136 | GATGAGAG others(587): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(179): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0010a0001c0001t0001g0064a0001c0001t0001g0070others(179): Show | 182 | 250 | 0.7280 | -594 | c.974 others(17): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
| SCUBE1_chr22_43192280_43348372 | 43280861 | CTCCTCAG others(587): Show |
C | intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0181 | 1 | 280 | 0.0036 | -594 | c.484 others(18): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | ||||||
| SPIRE2_chr16_89823475_89876319 | 89834088 | GCTCGCGG others(587): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(30): Show |
a0001a0003 | a0001c0001a0001c0018a0003c0005 | a0001c0001t0001a0001c0001t0010a0001c0018t0012others(1): Show | a0001c0001t0001g0288a0001c0001t0001g0289a0001c0001t0001g0290others(30): Show | 33 | 356 | 0.0927 | -594 | c.244 others(17): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| TRIP13_chr5_887884_923120 | 897411 | TCAGTCAG others(587): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02486.hp1 HG02559.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010a0001c0001t0002g0057a0001c0001t0002g0058 | 8 | 402 | 0.0199 | -594 | c.388 others(16): Show |
TRIP13 | ENSG00000071539.14 | transcript | ENST00000166345.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| TRIP13_chr5_887884_923120 | 897873 | GCAGTCAG others(587): Show |
G | intron_variant | MODIFIER | HG03831.hp1 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 2 | 402 | 0.0050 | -594 | c.388 others(17): Show |
TRIP13 | ENSG00000071539.14 | transcript | ENST00000166345.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| UBOX5_chr20_3102573_3164865 | 3104282 | AAACTCCT others(587): Show |
A | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02293.hp1 HG02572.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0015a0001c0002t0026a0001c0002t0034others(2): Show | a0001c0001t0015g0356a0001c0002t0026g0363a0001c0002t0026g0364others(4): Show | 8 | 384 | 0.0208 | -594 | c.*52 others(11): Show |
UBOX5 | ENSG00000185019.17 | transcript | ENST00000217173.7 | protein_coding | 3290 | chr20 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1237965 | TACTCCCC others(586): Show |
T | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0092 | 1 | 106 | 0.0094 | -593 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| DGKB_chr7_14140049_14907751 | 14211835 | TTACTCTC others(586): Show |
T | intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 148 | 0.0068 | -593 | c.212 others(21): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | ||||||
| H6PD_chr1_9229774_9276337 | 9259770 | ACATTGTT others(586): Show |
A | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 404 | 0.0025 | -593 | c.746 others(17): Show |
H6PD | ENSG00000049239.13 | transcript | ENST00000377403.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| INPP5K_chr17_1489577_1521612 | 1500600 | CGTGATCT others(586): Show |
C | intron_variant | MODIFIER | HG02818.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0202 | 1 | 420 | 0.0024 | -593 | c.777 others(17): Show |
INPP5K | ENSG00000132376.20 | transcript | ENST00000421807.7 | protein_coding | 7/11 | chr17 | TogoVar | ||||||
| PDE6C_chr10_93607537_93671010 | 93656595 | GGTCTCAC others(586): Show |
G | intron_variant | MODIFIER | HG02040.hp1 HG02132.hp1 HG02135.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121a0001c0001t0001g0265a0001c0001t0001g0354 | 3 | 384 | 0.0078 | -593 | c.203 others(18): Show |
PDE6C | ENSG00000095464.10 | transcript | ENST00000371447.4 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| SENP2_chr3_185581295_185638551 | 185601265 | GAACTCCT others(586): Show |
G | intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0062 | 1 | 360 | 0.0028 | -593 | c.449 others(16): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| TUBGCP2_chr10_133273635_133313872 | 133291243 | GTGTCCCC others(586): Show |
G | intron_variant | MODIFIER | HG02622.hp2 HG03471.hp1 NA20300.hp2 |
a0001a0002 | a0001c0002a0001c0022a0002c0003 | a0001c0002t0007a0001c0022t0001a0002c0003t0002 | a0001c0002t0007g0030a0001c0022t0001g0124a0002c0003t0002g0081 | 3 | 284 | 0.0106 | -593 | c.121 others(18): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | ||||||
| YBEY_chr21_46281342_46302751 | 46293100 | TCCCGCGG others(586): Show |
T | intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0335 | 1 | 404 | 0.0025 | -593 | c.339 others(17): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| ADGRA1_chr10_133082924_133136675 | 133136066 | TTCTGGTC others(585): Show |
T | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00639.hp2 others(33): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0002a0001c0003t0004a0001c0003t0009others(11): Show | a0001c0001t0002g0076a0001c0003t0004g0001a0001c0003t0004g0008others(28): Show | 36 | 368 | 0.0978 | -592 | c.*65 others(11): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 4392 | chr10 | TogoVar | ||||||
| ATP10A_chr15_25673712_25868327 | 25757885 | CCTAACTC others(585): Show |
C | intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 300 | 0.0033 | -592 | c.655 others(19): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
| CACNA1B_chr9_137872782_138129619 | 138018008 | TCAGGTGC others(585): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG04204.hp1 |
a0003 | a0003c0006 | a0003c0006t0002a0003c0006t0039 | a0003c0006t0002g0153a0003c0006t0039g0148 | 2 | 248 | 0.0081 | -592 | c.226 others(19): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| DPH7_chr9_137549444_137583925 | 137567844 | ACTCTGTC others(585): Show |
A | intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0306 | 1 | 340 | 0.0029 | -592 | c.641 others(17): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132304873 | ACACACCC others(585): Show |
A | intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0176 | 1 | 183 | 0.0055 | -592 | c.239 others(19): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
| IL3RA_chrX_1331785_1387689 | 1366247 | GGTGAGCC others(585): Show |
G | intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 115 | 0.0087 | -592 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| IL3RA_chrX_1331785_1387689 | 1366272 | CGGGTGAG others(585): Show |
C | intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 115 | 0.0087 | -592 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| YBEY_chr21_46281342_46302751 | 46293563 | CGTGCCCG others(585): Show |
C | intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 404 | 0.0025 | -592 | c.339 others(17): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| ADAMTS2_chr5_179105853_179350461 | 179277417 | GCGAGACC others(584): Show |
G | intron_variant | MODIFIER | HG03669.hp1 | a0014 | a0014c0038 | a0014c0038t0002 | a0014c0038t0002g0219 | 1 | 276 | 0.0036 | -591 | c.535 others(17): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1235645 | CCTCCCGG others(584): Show |
C | intron_variant | MODIFIER | HG04184.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0075 | 1 | 106 | 0.0094 | -591 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| ARHGAP28_chr18_6724716_6920716 | 6910930 | CGCCTCCC others(584): Show |
C | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0116a0001c0001t0007g0117a0001c0001t0007g0212 | 3 | 248 | 0.0121 | -591 | c.209 others(18): Show |
ARHGAP28 | ENSG00000088756.13 | transcript | ENST00000383472.9 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| ASB5_chr4_176208673_176274222 | 176218671 | TATATATA others(584): Show |
T | intron_variant | MODIFIER | HG02809.hp1 NA18522.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0001t0001g0149 | 3 | 410 | 0.0073 | -591 | c.670 others(17): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
| DCC_chr18_52335197_53540899 | 53085994 | TCTCCTTC others(584): Show |
T | intron_variant | MODIFIER | HG02080.hp2 HG02486.hp1 HG02572.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0002a0001c0003t0001a0002c0001t0001others(2): Show | a0001c0002t0002g0005a0001c0003t0001g0058a0002c0001t0001g0044others(2): Show | 5 | 114 | 0.0439 | -591 | c.126 others(21): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| IL3RA_chrX_1331785_1387689 | 1366263 | GGGGTGAG others(584): Show |
G | intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 115 | 0.0087 | -591 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| P2RX5_chr17_3668227_3701155 | 3685946 | ACACAGCG others(584): Show |
A | intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0078 | 1 | 362 | 0.0028 | -591 | c.981 others(17): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144531387 | GGGCTAGA others(583): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02809.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0150a0001c0001t0004g0155a0001c0001t0004g0158 | 3 | 246 | 0.0122 | -590 | c.298 others(17): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 10/11 | chr8 | TogoVar | ||||||
| BANP_chr16_87946434_88082316 | 87999371 | CGTCTCCA others(583): Show |
C | intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0018 | a0002c0018t0010 | a0002c0018t0010g0114 | 1 | 352 | 0.0028 | -590 | c.363 others(17): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| C8orf82_chr8_144520733_144534111 | 144531387 | GGGCTAGA others(583): Show |
G | upstream_gene_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0012 | 1 | 398 | 0.0025 | -590 | c.-30 others(11): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2277 | chr8 | TogoVar | ||||||
| CNST_chr1_246561456_246673595 | 246620038 | CACACTCT others(583): Show |
C | intron_variant | MODIFIER | HG02040.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0116 | 1 | 320 | 0.0031 | -590 | c.380 others(16): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1405077 | CGTGTATT others(583): Show |
C | intron_variant | MODIFIER | HG01361.hp2 HG03486.hp2 NA20300.hp2 |
a0001 | a0001c0002a0001c0009 | a0001c0002t0006a0001c0002t0023a0001c0009t0012 | a0001c0002t0006g0011a0001c0002t0023g0005a0001c0009t0012g0006 | 3 | 40 | 0.0750 | -590 | c.107 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DOC2B_chr17_137789_186650 | 170910 | GCAGCACC others(583): Show |
G | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0002 | a0001c0002t0035 | a0001c0002t0035g0251 | 1 | 339 | 0.0030 | -590 | c.453 others(17): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
| DPH7_chr9_137549444_137583925 | 137565600 | ACTCTGTC others(583): Show |
A | intron_variant | MODIFIER | NA18953.hp1 NA18953.hp2 NA18981.hp2 others(3): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0007a0004c0004t0001 | a0001c0001t0001g0030a0001c0001t0001g0043a0001c0001t0001g0078others(3): Show | 6 | 340 | 0.0177 | -590 | c.641 others(16): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| DPH7_chr9_137549444_137583925 | 137567106 | ACTCTGTC others(583): Show |
A | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0286 | 1 | 340 | 0.0029 | -590 | c.641 others(17): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241805655 | GACCTCCG others(583): Show |
G | downstream_gene_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 314 | 0.0032 | -590 | c.*14 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1369 | chr2 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241805672 | CTCCCCCC others(583): Show |
C | downstream_gene_variant | MODIFIER | HG03041.hp1 NA19002.hp1 NA19063.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001a0002c0002t0002 | a0001c0001t0002g0001a0002c0002t0001g0008a0002c0002t0002g0127 | 3 | 314 | 0.0096 | -590 | c.*15 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1386 | chr2 | TogoVar | ||||||
| INPP5A_chr10_132532787_132788480 | 132771646 | GGCAGCCG others(583): Show |
G | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0078 | 1 | 204 | 0.0049 | -590 | c.977 others(17): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ITSN2_chr2_24197864_24365536 | 24324263 | ATTTTTTT others(583): Show |
A | intron_variant | MODIFIER | HG02109.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106a0001c0001t0001g0107 | 2 | 224 | 0.0089 | -590 | c.31+ others(15): Show |
ITSN2 | ENSG00000198399.16 | transcript | ENST00000355123.9 | protein_coding | 2/39 | chr2 | TogoVar | ||||||
| LRRC24_chr8_144517388_144532033 | 144531387 | GGGCTAGA others(583): Show |
G | upstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0006 | 1 | 398 | 0.0025 | -590 | c.-50 others(11): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4355 | chr8 | TogoVar | ||||||
| NDUFV2_chr18_9097699_9139341 | 9111498 | GGCTCACT others(583): Show |
G | intron_variant | MODIFIER | HG02922.hp2 HG03098.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0085a0001c0001t0001g0179a0001c0001t0001g0184others(1): Show | 4 | 368 | 0.0109 | -590 | c.55- others(15): Show |
NDUFV2 | ENSG00000178127.13 | transcript | ENST00000318388.11 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| NEU4_chr2_241804193_241822413 | 241805655 | GACCTCCG others(583): Show |
G | upstream_gene_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0073 | 1 | 319 | 0.0031 | -590 | c.-36 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3537 | chr2 | TogoVar |