| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MMP25_chr16_3041561_3065726 | 3054372 | ACACAGAG others(61): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(122): Show |
a0001a0006a0007others(3): Show | a0001c0001a0001c0002a0001c0006others(8): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(20): Show | a0001c0001t0002g0003a0001c0001t0002g0125a0001c0001t0002g0177others(70): Show | 125 | 438 | 0.2854 | -68 | c.662 others(85): Show |
MMP25 | ENSG00000008516.18 | transcript | ENST00000336577.9 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| MN1_chr22_27743277_27806756 | 27770662 | TTTATTTT others(61): Show |
T | intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG02015.hp1 others(24): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0078a0001c0001t0001g0124a0001c0001t0002g0212others(23): Show | 27 | 394 | 0.0685 | -68 | c.378 others(89): Show |
MN1 | ENSG00000169184.7 | transcript | ENST00000302326.5 | protein_coding | 1/1 | chr22 | TogoVar | ||||||
| MROH2A_chr2_233773330_233838418 | 233787693 | TATATATC others(61): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02559.hp1 HG03130.hp2 others(2): Show |
a0004a0072a0073others(2): Show | a0004c0120a0072c0065a0073c0066others(2): Show | a0004c0120t0001a0072c0065t0001a0073c0066t0001others(2): Show | a0004c0120t0001g0362a0072c0065t0001g0364a0073c0066t0001g0365others(2): Show | 5 | 378 | 0.0132 | -68 | c.277 others(85): Show |
MROH2A | ENSG00000185038.15 | transcript | ENST00000389758.4 | protein_coding | 3/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MROH2A_chr2_233773330_233838418 | 233787750 | ATTATATA others(61): Show |
A | intron_variant | MODIFIER | HG02523.hp1 HG02818.hp2 HG03139.hp1 others(4): Show |
a0002a0008a0026others(2): Show | a0002c0043a0008c0005a0026c0030others(2): Show | a0002c0043t0001a0008c0005t0001a0026c0030t0001others(2): Show | a0002c0043t0001g0296a0002c0043t0001g0298a0008c0005t0001g0347others(4): Show | 7 | 378 | 0.0185 | -68 | c.277 others(85): Show |
MROH2A | ENSG00000185038.15 | transcript | ENST00000389758.4 | protein_coding | 3/41 | chr2 | TogoVar | ||||||
| MSH3_chr5_80649652_80881815 | 80692356 | ATAGATAA others(61): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG01167.hp2 others(10): Show |
a0001a0007 | a0001c0002a0007c0035 | a0001c0002t0001a0001c0002t0005a0007c0035t0010 | a0001c0002t0001g0046a0001c0002t0001g0096a0001c0002t0001g0098others(10): Show | 13 | 362 | 0.0359 | -68 | c.134 others(89): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| MSH3_chr5_80649652_80881815 | 80692380 | ATAGATAA others(61): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG02145.hp1 HG02486.hp1 others(1): Show |
a0001a0010a0032 | a0001c0002a0010c0014a0032c0031 | a0001c0002t0005a0010c0014t0011a0032c0031t0005 | a0001c0002t0005g0038a0010c0014t0011g0300a0010c0014t0011g0302others(1): Show | 4 | 362 | 0.0111 | -68 | c.134 others(89): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| MT4_chr16_56560073_56573957 | 56568207 | GAGAGAGA others(61): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02109.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068a0001c0001t0001g0093a0001c0001t0001g0187 | 3 | 428 | 0.0070 | -68 | c.97+ others(81): Show |
MT4 | ENSG00000102891.4 | transcript | ENST00000219162.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| MT4_chr16_56560073_56573957 | 56568215 | GAAAGAAA others(61): Show |
G | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 428 | 0.0023 | -68 | c.97+ others(81): Show |
MT4 | ENSG00000102891.4 | transcript | ENST00000219162.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| MUC5AC_chr11_1152953_1206138 | 1170190 | TTCACTCA others(61): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00558.hp2 others(134): Show |
a0001a0002a0003others(36): Show | a0001c0013a0001c0023a0001c0092others(57): Show | a0001c0013t0001a0001c0023t0001a0001c0092t0001others(58): Show | a0001c0013t0001g0050a0001c0013t0001g0083a0001c0013t0001g0129others(120): Show | 137 | 292 | 0.4692 | -68 | c.187 others(87): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 15/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| MUSK_chr9_110663791_110811558 | 110690731 | AATATATA others(61): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01261.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194a0001c0001t0001g0197 | 2 | 326 | 0.0061 | -68 | c.358 others(85): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| MYO1F_chr19_8515778_8582442 | 8574586 | TCTCTCTC others(61): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00673.hp2 NA19030.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0010 | a0001c0001t0001g0249a0001c0001t0001g0336a0001c0001t0003g0337others(1): Show | 4 | 342 | 0.0117 | -68 | c.3+2 others(81): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 1/27 | chr19 | TogoVar | ||||||
| MYO3B_chr2_170173147_170660167 | 170649215 | AATATATT others(61): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG01978.hp1 HG03041.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0003a0001c0002t0003a0001c0011t0003others(1): Show | a0001c0001t0003g0029a0001c0002t0003g0068a0001c0011t0003g0141others(1): Show | 4 | 174 | 0.0230 | -68 | c.373 others(87): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 32/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MYO6_chr6_75744239_75924537 | 75756976 | GTGTGTAT others(61): Show |
G | intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 358 | 0.0028 | -68 | c.-48 others(85): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| MYRFL_chr12_69820227_69964097 | 69891569 | CTTTCTTT others(61): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 NA18951.hp2 others(1): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0008 | a0001c0001t0001a0001c0003t0001a0001c0003t0005others(1): Show | a0001c0001t0001g0087a0001c0003t0001g0309a0001c0003t0005g0231others(1): Show | 4 | 322 | 0.0124 | -68 | c.903 others(83): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| NACA_chr12_56707427_56730299 | 56718087 | GCCCCTTT others(61): Show |
G | frameshift_variant | HIGH | NA18967.hp1 NA19091.hp2 |
a0016 | a0016c0038a0016c0039 | a0016c0038t0001a0016c0039t0001 | a0016c0038t0001g0054a0016c0039t0001g0085 | 2 | 366 | 0.0055 | -68 | c.337 others(77): Show |
p.Thr others(6): Show |
NACA | ENSG00000196531.14 | transcript | ENST00000454682.6 | protein_coding | 3/9 | 3481/6387 | 3375/6237 | 1125/2078 | chr12 | TogoVar | ||
| NCAM1_chr11_112956420_113283436 | 113237873 | GATATATA others(61): Show |
G | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 242 | 0.0041 | -68 | c.182 others(87): Show |
NCAM1 | ENSG00000149294.18 | transcript | ENST00000316851.12 | protein_coding | 14/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| NCAPD3_chr11_134145113_134228967 | 134166966 | AGGGGAGC others(61): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0013 | a0013c0017 | a0013c0017t0034 | a0013c0017t0034g0103 | 1 | 370 | 0.0027 | -68 | c.357 others(86): Show |
NCAPD3 | ENSG00000151503.14 | transcript | ENST00000534548.7 | protein_coding | 27/34 | chr11 | TogoVar | ||||||
| NCBP2L_chrX_107772733_107800829 | 107782284 | TAAATATA others(61): Show |
T | intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0236 | 1 | 303 | 0.0033 | -68 | c.-73 others(85): Show |
NCBP2L | ENSG00000170935.8 | transcript | ENST00000509000.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| NCKAP5_chr2_132666788_133573463 | 133526227 | GAAAGGAA others(61): Show |
G | intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0004 | 1 | 70 | 0.0143 | -68 | c.-61 others(85): Show |
NCKAP5 | ENSG00000176771.18 | transcript | ENST00000409261.6 | protein_coding | 2/19 | chr2 | TogoVar | ||||||
| NCOA6_chr20_34709774_34830651 | 34817144 | AGCAAAAG others(61): Show |
A | intron_variant | MODIFIER | HG04204.hp2 NA19090.hp2 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0001 | a0001c0001t0001g0099a0003c0006t0001g0119 | 2 | 290 | 0.0069 | -68 | c.-16 others(87): Show |
NCOA6 | ENSG00000198646.14 | transcript | ENST00000359003.7 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
| NCOR2_chr12_124319415_124572612 | 124409580 | CCCCCATG others(61): Show |
C | intron_variant | MODIFIER | HG01978.hp2 | a0013 | a0013c0071 | a0013c0071t0023 | a0013c0071t0023g0195 | 1 | 234 | 0.0043 | -68 | c.148 others(87): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 15/48 | chr12 | TogoVar | ||||||
| NGB_chr14_77260483_77276206 | 77269667 | TTTCTCTC others(61): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG01081.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0183a0001c0001t0002g0243 | 2 | 366 | 0.0055 | -68 | c.90- others(81): Show |
NGB | ENSG00000165553.5 | transcript | ENST00000298352.5 | protein_coding | 1/3 | chr14 | TogoVar | ||||||
| NGEF_chr2_232873701_233018256 | 232995072 | CTGTATAT others(61): Show |
C | intron_variant | MODIFIER | HG02615.hp2 HG02818.hp2 HG03486.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0339a0001c0001t0002g0336a0001c0001t0007g0247others(5): Show | 8 | 362 | 0.0221 | -68 | c.-75 others(87): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
| NID1_chr1_235970830_236070090 | 236038658 | ACATATAT others(61): Show |
A | intron_variant | MODIFIER | HG02083.hp2 HG03017.hp1 HG03239.hp1 others(3): Show |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0001a0003c0004t0001 | a0002c0002t0001g0002a0002c0002t0001g0158a0002c0002t0001g0201others(2): Show | 6 | 334 | 0.0180 | -68 | c.113 others(85): Show |
NID1 | ENSG00000116962.15 | transcript | ENST00000264187.7 | protein_coding | 4/19 | chr1 | TogoVar | ||||||
| NID1_chr1_235970830_236070090 | 236038717 | TTATATAG others(61): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG03471.hp1 |
a0008a0015 | a0008c0023a0015c0037 | a0008c0023t0001a0015c0037t0001 | a0008c0023t0001g0016a0015c0037t0001g0313 | 2 | 334 | 0.0060 | -68 | c.113 others(85): Show |
NID1 | ENSG00000116962.15 | transcript | ENST00000264187.7 | protein_coding | 4/19 | chr1 | TogoVar | ||||||
| NMRK2_chr19_3928069_3947416 | 3937661 | CTGCAATG others(61): Show |
C | intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0231 | 1 | 404 | 0.0025 | -68 | c.166 others(83): Show |
NMRK2 | ENSG00000077009.14 | transcript | ENST00000168977.7 | protein_coding | 4/7 | chr19 | TogoVar | ||||||
| NOL4L_chr20_32438059_32590333 | 32488774 | CCTTCCTT others(61): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008 | 1 | 196 | 0.0051 | -68 | c.700 others(87): Show |
NOL4L | ENSG00000197183.15 | transcript | ENST00000621426.7 | protein_coding | 4/10 | chr20 | TogoVar | ||||||
| NSG1_chr4_4382102_4424058 | 4396655 | ATCCCTAA others(61): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG01074.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0049a0001c0001t0001g0050a0001c0001t0001g0051others(20): Show | 26 | 394 | 0.0660 | -68 | c.246 others(85): Show |
NSG1 | ENSG00000168824.15 | transcript | ENST00000621129.5 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| NUP62CL_chrX_107118427_107211433 | 107204749 | TTTAAATA others(61): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02486.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0111a0001c0001t0003g0112a0001c0001t0003g0113 | 3 | 280 | 0.0107 | -68 | c.-92 others(85): Show |
NUP62CL | ENSG00000198088.10 | transcript | ENST00000372466.8 | protein_coding | 1/8 | chrX | TogoVar | ||||||
| NXNL1_chr19_17450425_17465926 | 17463891 | GAGAAGGA others(61): Show |
G | upstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 408 | 0.0025 | -68 | c.-30 others(79): Show |
NXNL1 | ENSG00000171773.3 | transcript | ENST00000301944.3 | protein_coding | 2966 | chr19 | TogoVar | ||||||
| NXNL1_chr19_17450425_17465926 | 17463897 | GAGAAGGA others(61): Show |
G | upstream_gene_variant | MODIFIER | HG03017.hp1 HG03490.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 3 | 408 | 0.0074 | -68 | c.-30 others(79): Show |
NXNL1 | ENSG00000171773.3 | transcript | ENST00000301944.3 | protein_coding | 2972 | chr19 | TogoVar | ||||||
| NXPE4_chr11_114565591_114600786 | 114576977 | ATATATAT others(61): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG02970.hp1 HG03098.hp2 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0004 | a0003c0003t0002g0035a0003c0003t0002g0078a0003c0003t0004g0041others(1): Show | 6 | 432 | 0.0139 | -68 | c.109 others(87): Show |
NXPE4 | ENSG00000137634.10 | transcript | ENST00000375478.4 | protein_coding | 5/5 | chr11 | TogoVar | ||||||
| OCA2_chr15_27749875_28104315 | 27913860 | AAAGAAAG others(61): Show |
A | intron_variant | MODIFIER | HG02257.hp1 | a0004 | a0004c0017 | a0004c0017t0001 | a0004c0017t0001g0109 | 1 | 110 | 0.0091 | -68 | c.207 others(89): Show |
OCA2 | ENSG00000104044.16 | transcript | ENST00000354638.8 | protein_coding | 19/23 | chr15 | TogoVar | ||||||
| ODAD3_chr19_11415605_11440121 | 11424597 | ATATATAT others(61): Show |
A | intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0342 | 1 | 398 | 0.0025 | -68 | c.964 others(83): Show |
ODAD3 | ENSG00000198003.12 | transcript | ENST00000356392.9 | protein_coding | 7/12 | chr19 | TogoVar | ||||||
| OR11H4_chr14_20234286_20249349 | 20237003 | ATACCATA others(61): Show |
A | upstream_gene_variant | MODIFIER | HG03516.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 2 | 439 | 0.0046 | -68 | c.-23 others(79): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 2282 | chr14 | TogoVar | ||||||
| OR1A1_chr17_3202667_3223896 | 3221571 | TATATAAT others(61): Show |
T | downstream_gene_variant | MODIFIER | HG02976.hp1 | a0004 | a0004c0006 | a0004c0006t0006 | a0004c0006t0006g0076 | 1 | 434 | 0.0023 | -68 | c.*50 others(79): Show |
OR1A1 | ENSG00000172146.4 | transcript | ENST00000641732.2 | protein_coding | 2676 | chr17 | TogoVar | ||||||
| OR2T6_chr1_248370746_248396811 | 248383258 | GAAAGCAC others(61): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01433.hp2 HG01884.hp2 others(20): Show |
a0001a0008 | a0001c0001a0008c0010 | a0001c0001t0004a0001c0001t0006a0001c0001t0014others(3): Show | a0001c0001t0004g0005a0001c0001t0004g0041a0001c0001t0004g0045others(6): Show | 23 | 403 | 0.0571 | -68 | c.-15 others(87): Show |
OR2T6 | ENSG00000198104.4 | transcript | ENST00000641644.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| OR2T6_chr1_248370746_248396811 | 248383530 | GAAAGCAC others(61): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG02572.hp1 HG03225.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0006a0002c0005t0034 | a0001c0001t0006g0007a0002c0005t0034g0069 | 4 | 403 | 0.0099 | -68 | c.-15 others(87): Show |
OR2T6 | ENSG00000198104.4 | transcript | ENST00000641644.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| OR2T6_chr1_248370746_248396811 | 248383870 | GAAAGCAC others(61): Show |
G | intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0005 | a0002c0005t0034 | a0002c0005t0034g0069 | 1 | 403 | 0.0025 | -68 | c.-15 others(85): Show |
OR2T6 | ENSG00000198104.4 | transcript | ENST00000641644.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| OR2T6_chr1_248370746_248396811 | 248384066 | ATCATGGG others(61): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG02647.hp2 HG02717.hp2 others(4): Show |
a0004 | a0004c0004 | a0004c0004t0007a0004c0004t0033 | a0004c0004t0007g0010a0004c0004t0007g0067a0004c0004t0033g0010 | 7 | 403 | 0.0174 | -68 | c.-15 others(85): Show |
OR2T6 | ENSG00000198104.4 | transcript | ENST00000641644.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| OR2T6_chr1_248370746_248396811 | 248384576 | CTCATCCT others(61): Show |
C | intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0005 | a0002c0005t0034 | a0002c0005t0034g0069 | 1 | 403 | 0.0025 | -68 | c.-15 others(84): Show |
OR2T6 | ENSG00000198104.4 | transcript | ENST00000641644.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ORM2_chr9_114324869_114338251 | 114337933 | CAAGCCCA others(61): Show |
C | downstream_gene_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 446 | 0.0022 | -68 | c.*48 others(79): Show |
ORM2 | ENSG00000228278.5 | transcript | ENST00000431067.4 | protein_coding | 4683 | chr9 | TogoVar | ||||||
| OSBPL10_chr3_31655825_31986262 | 31812718 | AAAAGAAA others(61): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0006 | 1 | 186 | 0.0054 | -68 | c.729 others(87): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 4/11 | chr3 | TogoVar | ||||||
| P2RX5_chr17_3668227_3701155 | 3685878 | GCACAGCG others(61): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG01074.hp2 HG01168.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0113a0001c0001t0001g0262a0001c0001t0001g0263others(5): Show | 8 | 362 | 0.0221 | -68 | c.981 others(85): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| P2RX5_chr17_3668227_3701155 | 3685993 | GAGAACAG others(61): Show |
G | intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 362 | 0.0028 | -68 | c.981 others(85): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| P2RX5_chr17_3668227_3701155 | 3686181 | TCCCAGCC others(61): Show |
T | intron_variant | MODIFIER | HG01099.hp2 HG02738.hp2 HG03710.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0128a0001c0001t0001g0130a0001c0001t0001g0131others(2): Show | 5 | 362 | 0.0138 | -68 | c.981 others(85): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| P2RX5_chr17_3668227_3701155 | 3686190 | GAGAACAG others(61): Show |
G | intron_variant | MODIFIER | HG04228.hp1 NA19005.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0333a0002c0002t0001g0152 | 2 | 362 | 0.0055 | -68 | c.981 others(85): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| P2RX5_chr17_3668227_3701155 | 3686319 | GAGAACAG others(61): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG02451.hp2 HG03471.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0050a0002c0002t0001g0217a0002c0002t0001g0218others(1): Show | 4 | 362 | 0.0111 | -68 | c.981 others(85): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| P2RX5_chr17_3668227_3701155 | 3686537 | GCACAGCG others(61): Show |
G | intron_variant | MODIFIER | HG02723.hp2 HG03492.hp1 NA19011.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0132a0002c0002t0001g0194a0002c0002t0002g0167 | 3 | 362 | 0.0083 | -68 | c.981 others(85): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| P2RX5_chr17_3668227_3701155 | 3686741 | TGGGCCCC others(61): Show |
T | intron_variant | MODIFIER | HG01123.hp2 HG01168.hp2 HG01169.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0062a0001c0001t0001g0099others(5): Show | 8 | 362 | 0.0221 | -68 | c.981 others(85): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar |