| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DIP2C_chr10_269201_694668 | 478176 | G | GAAGAAGG others(478): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008 | 1 | 52 | 0.0192 | 485 | c.158 others(502): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
| DIP2C_chr10_269201_694668 | 478383 | G | GGAGGGGA others(478): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0012 | 1 | 57 | 0.0175 | 485 | c.158 others(502): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
| DPEP1_chr16_89608642_89643433 | 89634730 | C | CCCTTTCC others(478): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 241 | 0.0041 | 485 | c.105 others(502): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
| EIPR1_chr2_3183970_3382818 | 3221594 | T | TCGGGAAC others(478): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01981.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0199 a0001c0001t0003g0202 |
2 | 213 | 0.0094 | 485 | c.417 others(502): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
| ENOX1_chr13_43208130_43791972 | 43416191 | A | ATCCCAGA others(478): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0139 | 1 | 61 | 0.0164 | 485 | c.-74 others(502): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
| FLT3_chr13_27998274_28105576 | 27998827 | C | CATATAAA others(478): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG02896.hp1 |
a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0227 a0005c0007t0001g0230 |
2 | 289 | 0.0069 | 485 | c.*52 others(496): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4446 | chr13 | TogoVar | |||||||
| FLT3_chr13_27998274_28105576 | 27999113 | A | ATTTATAT others(478): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0004 | 1 | 24 | 0.0417 | 485 | c.*49 others(496): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4160 | chr13 | TogoVar | |||||||
| FOXK2_chr17_82514732_82609602 | 82586259 | G | GGGGAAAG others(478): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 261 | 0.0038 | 485 | c.157 others(500): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| FOXK2_chr17_82514732_82609602 | 82586551 | A | AGGGGAAA others(478): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0163 | 1 | 172 | 0.0058 | 485 | c.157 others(502): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| GABRA3_chrX_152161234_152456315 | 152182722 | G | GTATAGTG others(478): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 150 | 0.0067 | 485 | c.114 others(504): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 9/9 | chrX | TogoVar | |||||||
| GJA9_chr1_38869069_38886587 | 38870012 | C | CAAAAAAA others(478): Show |
downstream_gene_variant | MODIFIER | NA18955.hp2 NA18957.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 2 | 434 | 0.0046 | 485 | c.*45 others(496): Show |
GJA9 | ENSG00000131233.10 | transcript | ENST00000357771.5 | protein_coding | 4056 | chr1 | TogoVar | |||||||
| GPATCH2_chr1_217421992_217636090 | 217524869 | G | GGGAGAGG others(478): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0169 | 1 | 128 | 0.0078 | 485 | c.109 others(504): Show |
GPATCH2 | ENSG00000092978.11 | transcript | ENST00000366935.8 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
| GPR173_chrX_53043789_53085615 | 53073903 | A | ATATATAT others(478): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0196 | 1 | 133 | 0.0075 | 485 | c.-97 others(502): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| GUCY1A2_chr11_106669019_107023476 | 106709951 | C | CATATAGT others(478): Show |
intron_variant | MODIFIER | HG00738.hp2 HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0033 a0001c0001t0010g0034 a0001c0001t0010g0127 |
3 | 154 | 0.0195 | 485 | c.183 others(504): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | |||||||
| HCN2_chr19_584881_622159 | 602255 | C | CCCTCCTC others(478): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0003 | a0001c0003t0018 | a0001c0003t0018g0384 | 1 | 392 | 0.0026 | 485 | c.633 others(502): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| IDE_chr10_92446684_92579093 | 92524439 | A | ATAATATA others(478): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 288 | 0.0035 | 485 | c.661 others(502): Show |
IDE | ENSG00000119912.18 | transcript | ENST00000265986.11 | protein_coding | 4/24 | chr10 | TogoVar | |||||||
| KCNQ2_chr20_63395208_63477655 | 63442719 | C | CCACCATC others(478): Show |
intron_variant | MODIFIER | HG00558.hp2 NA18970.hp1 NA19067.hp2 |
a0002 | a0002c0001a0002c0018 | a0002c0001t0037a0002c0018t0006 | a0002c0001t0037g0262 a0002c0018t0006g0008 |
3 | 194 | 0.0155 | 485 | c.691 others(500): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | |||||||
| KIF25_chr6_167992671_168050091 | 167997508 | G | GGGGGCGG others(478): Show |
upstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0307 | 1 | 347 | 0.0029 | 485 | c.-19 others(496): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 162 | chr6 | TogoVar | |||||||
| KREMEN1_chr22_29068035_29151820 | 29120035 | A | AGGAGAGG others(478): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0345 | 1 | 334 | 0.0030 | 485 | c.353 others(502): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| LAMA5_chr20_62304065_62372312 | 62360517 | G | GGGTGGAG others(478): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0036 | a0036c0133 | a0036c0133t0001 | a0036c0133t0001g0055 | 1 | 155 | 0.0065 | 485 | c.450 others(502): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | |||||||
| MAN2B2_chr4_6570189_6628362 | 6579126 | C | CCACCACC others(478): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0012 | a0012c0022 | a0012c0022t0001 | a0012c0022t0001g0263 | 1 | 297 | 0.0034 | 485 | c.391 others(500): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| MAPKAP1_chr9_125432394_125712208 | 125547957 | T | TAAGAACT others(478): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0208 | 1 | 297 | 0.0034 | 485 | c.849 others(502): Show |
MAPKAP1 | ENSG00000119487.17 | transcript | ENST00000265960.8 | protein_coding | 6/11 | chr9 | TogoVar | |||||||
| MUC4_chr3_195741771_195816929 | 195760478 | G | GCTAGGAT others(478): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0061 | a0061c0045 | a0061c0045t0001 | a0061c0045t0001g0078 | 1 | 130 | 0.0077 | 485 | c.148 others(504): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 16/24 | chr3 | TogoVar | |||||||
| MYCBP_chr1_38857493_38878348 | 38870012 | C | CAAAAAAA others(478): Show |
intron_variant | MODIFIER | NA18955.hp2 NA18957.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0172 a0001c0001t0003g0173 |
2 | 418 | 0.0048 | 485 | c.89- others(500): Show |
MYCBP | ENSG00000214114.9 | transcript | ENST00000397572.5 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
| MYDGF_chr19_4652545_4675342 | 4663639 | C | CCCCACCC others(478): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0093 | 1 | 400 | 0.0025 | 485 | c.287 others(502): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 3/5 | chr19 | TogoVar | |||||||
| MYEOV_chr11_69289155_69302287 | 69291987 | C | CACCATCA others(478): Show |
upstream_gene_variant | MODIFIER | HG02523.hp1 | a0011 | a0011c0009 | a0011c0009t0001 | a0011c0009t0001g0001 | 1 | 197 | 0.0051 | 485 | c.-27 others(496): Show |
MYEOV | ENSG00000172927.9 | transcript | ENST00000441339.3 | protein_coding | 2167 | chr11 | TogoVar | |||||||
| NAALADL2_chr3_174854334_175815548 | 175670512 | A | AATTTATA others(478): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0057 | 1 | 4 | 0.2500 | 485 | c.189 others(506): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| NDUFV3_chr21_42888309_42918299 | 42894401 | T | TTATATAT others(478): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0002 | a0002c0003 | a0002c0003t0030 | a0002c0003t0030g0015 | 1 | 202 | 0.0050 | 485 | c.48+ others(500): Show |
NDUFV3 | ENSG00000160194.18 | transcript | ENST00000354250.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| NDUFV3_chr21_42888309_42918299 | 42894402 | T | TATATATA others(478): Show |
intron_variant | MODIFIER | NA19056.hp2 NA19070.hp1 |
a0002 | a0002c0003 | a0002c0003t0020 | a0002c0003t0020g0041 | 2 | 343 | 0.0058 | 485 | c.48+ others(500): Show |
NDUFV3 | ENSG00000160194.18 | transcript | ENST00000354250.7 | protein_coding | 1/3 | chr21 | TogoVar | |||||||
| NME4_chr16_392199_405754 | 397726 | C | CGGGGGGT others(478): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0075 | 1 | 313 | 0.0032 | 485 | c.91+ others(498): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| NRCAM_chr7_108142649_108461436 | 108164056 | G | GGTAATGA others(478): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01106.hp2 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0176 a0001c0004t0002g0179 |
2 | 144 | 0.0139 | 485 | c.346 others(504): Show |
NRCAM | ENSG00000091129.22 | transcript | ENST00000379028.8 | protein_coding | 30/32 | chr7 | TogoVar | |||||||
| NRDE2_chr14_90262860_90336941 | 90300868 | A | AGGAGGGA others(478): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0040 | 1 | 142 | 0.0070 | 485 | c.154 others(502): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 7/13 | chr14 | TogoVar | |||||||
| ODF3_chr11_191761_205258 | 196197 | G | GGGGACCT others(478): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 HG01255.hp2 HG01361.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0006 a0001c0001t0003g0006 a0001c0001t0003g0014 |
19 | 375 | 0.0507 | 485 | c.-85 others(494): Show |
ODF3 | ENSG00000177947.15 | transcript | ENST00000325113.9 | protein_coding | 563 | chr11 | TogoVar | |||||||
| ODF3_chr11_191761_205258 | 196197 | G | GGGGACCT others(478): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG02615.hp1 HG02970.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0003g0006 others(1): Show |
8 | 364 | 0.0220 | 485 | c.-85 others(494): Show |
ODF3 | ENSG00000177947.15 | transcript | ENST00000325113.9 | protein_coding | 563 | chr11 | TogoVar | |||||||
| ODF3_chr11_191761_205258 | 196197 | G | GGGGACCT others(478): Show |
upstream_gene_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 357 | 0.0028 | 485 | c.-85 others(494): Show |
ODF3 | ENSG00000177947.15 | transcript | ENST00000325113.9 | protein_coding | 563 | chr11 | TogoVar | |||||||
| OR6J1_chr14_22625929_22649352 | 22637546 | G | GCCGCCCC others(478): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 217 | 0.0046 | 485 | c.-27 others(502): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
| OR6J1_chr14_22625929_22649352 | 22637546 | G | GCCGCCCC others(478): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 217 | 0.0046 | 485 | c.-27 others(502): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
| PCBP3_chr21_45638725_45947450 | 45910078 | C | CCACCCAC others(478): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0215 | 1 | 125 | 0.0080 | 485 | c.471 others(500): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | chr21 | TogoVar | |||||||
| PDE1C_chr7_31746179_32075407 | 31886851 | T | TTTCAGAA others(478): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 50 | 0.0200 | 485 | c.129 others(502): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | |||||||
| PDE1C_chr7_31746179_32075407 | 31886851 | T | TTTCAGAA others(478): Show |
intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0077 | 1 | 50 | 0.0200 | 485 | c.129 others(502): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | |||||||
| PLEKHG4B_chr5_87168_194966 | 92368 | G | GGGCGCGG others(478): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0011 | a0011c0023 | a0011c0023t0054 | a0011c0023t0054g0186 | 1 | 208 | 0.0048 | 485 | c.45+ others(496): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| PPP1R16B_chr20_38800697_38928024 | 38895860 | T | TCTCCTCC others(478): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0035 | 1 | 236 | 0.0042 | 485 | c.467 others(500): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 4/10 | chr20 | TogoVar | |||||||
| PRKCZ_chr1_2045411_2190395 | 2121673 | G | GGTTACTT others(478): Show |
intron_variant | MODIFIER | HG02895.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 a0001c0001t0002g0018 |
2 | 281 | 0.0071 | 485 | c.335 others(504): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PTK6_chr20_63523001_63542376 | 63536002 | T | TCCTCTCC others(478): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0211 | 1 | 280 | 0.0036 | 485 | c.231 others(500): Show |
PTK6 | ENSG00000101213.7 | transcript | ENST00000542869.3 | protein_coding | 1/7 | chr20 | TogoVar | |||||||
| PWWP2B_chr10_132392200_132422859 | 132392564 | G | GTGATGAT others(478): Show |
upstream_gene_variant | MODIFIER | NA18990.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 199 | 0.0050 | 485 | c.-46 others(496): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 4635 | chr10 | TogoVar | |||||||
| RFX2_chr19_5988164_6115500 | 6069986 | T | TGGATGGG others(478): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 50 | 0.0200 | 485 | c.-8- others(502): Show |
RFX2 | ENSG00000087903.13 | transcript | ENST00000303657.10 | protein_coding | 1/17 | chr19 | TogoVar | |||||||
| RFX2_chr19_5988164_6115500 | 6069986 | T | TGGATGGG others(478): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00438.hp1 others(69): Show |
a0001a0005a0009 | a0001c0001a0005c0011a0009c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(69): Show |
72 | 121 | 0.5950 | 485 | c.-8- others(502): Show |
RFX2 | ENSG00000087903.13 | transcript | ENST00000303657.10 | protein_coding | 1/17 | chr19 | TogoVar | |||||||
| RPH3AL_chr17_207389_357807 | 243002 | A | ATACCTTC others(478): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0055 | 1 | 97 | 0.0103 | 485 | c.613 others(502): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
| RPH3AL_chr17_207389_357807 | 314650 | A | ACTCCACC others(478): Show |
intron_variant | MODIFIER | HG01496.hp2 NA19004.hp2 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0012 | a0001c0001t0007g0098 a0001c0001t0012g0005 a0001c0001t0012g0006 |
3 | 120 | 0.0250 | 485 | c.351 others(502): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
| RPH3AL_chr17_207389_357807 | 353520 | T | TCAAACTG others(478): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(24): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0115 others(24): Show |
27 | 95 | 0.2842 | 485 | c.-10 others(496): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 714 | chr17 | TogoVar |