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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OPA1_chr3_193588208_193702811 | 193688444 | CTTTTCTT others(18): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp1 others(89): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(7): Show | a0002c0002t0001g0010 a0002c0002t0001g0122 a0002c0002t0001g0126 others(88): Show |
92 | 341 | 0.2698 | -25 | c.298 others(44): Show |
OPA1 | ENSG00000198836.11 | transcript | ENST00000361510.8 | protein_coding | 29/30 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
OPA1_chr3_193588208_193702811 | 193688449 | CTTTTTTT others(18): Show |
C | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0108 | 1 | 151 | 0.0066 | -25 | c.298 others(44): Show |
OPA1 | ENSG00000198836.11 | transcript | ENST00000361510.8 | protein_coding | 29/30 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
OPALIN_chr10_96338221_96364002 | 96361936 | ATACAATA others(18): Show |
A | upstream_gene_variant | MODIFIER | HG02717.hp2 HG02723.hp2 HG03195.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0012 | a0001c0001t0007g0036 a0001c0001t0012g0065 |
5 | 388 | 0.0129 | -25 | c.-30 others(36): Show |
OPALIN | ENSG00000197430.11 | transcript | ENST00000371172.8 | protein_coding | 2935 | chr10 | TogoVar | |||||||
OPCML_chr11_132409981_133537501 | 132975529 | CAAAAAAA others(18): Show |
C | intron_variant | MODIFIER | HG01891.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0026 | a0001c0001t0003g0030 a0001c0001t0026g0053 |
2 | 3 | 0.6667 | -25 | c.62- others(42): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
OPCML_chr11_132409981_133537501 | 133034879 | ATGCTCTA others(18): Show |
A | intron_variant | MODIFIER | HG01516.hp1 HG01884.hp1 HG01978.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0015 a0001c0001t0002g0019 a0001c0001t0003g0024 others(1): Show |
4 | 68 | 0.0588 | -25 | c.62- others(42): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
OPCML_chr11_132409981_133537501 | 133325727 | GCCTGTTT others(18): Show |
G | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0065 | 1 | 68 | 0.0147 | -25 | c.61+ others(44): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
OPTC_chr1_203489153_203513949 | 203496106 | TGCCCAGG others(18): Show |
T | frameshift_variant | HIGH | HG02132.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0048 | 1 | 404 | 0.0025 | -25 | c.103 others(32): Show |
p.Pro others(4): Show |
OPTC | ENSG00000188770.10 | transcript | ENST00000367222.7 | protein_coding | 2/8 | 209/1434 | 103/999 | 35/332 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
OR11H2_chr14_19707936_19718883 | 19714237 | CAAAAAAA others(18): Show |
C | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02809.hp2 HG02965.hp1 others(1): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0000 | 4 | 187 | 0.0214 | -25 | c.-37 others(34): Show |
OR11H2 | ENSG00000258453.4 | transcript | ENST00000556246.3 | protein_coding | 355 | chr14 | TogoVar | |||||||
OR13D1_chr9_104689518_104700462 | 104698913 | AAGGGGAG others(18): Show |
A | downstream_gene_variant | MODIFIER | NA18942.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 194 | 0.0052 | -25 | c.*34 others(36): Show |
OR13D1 | ENSG00000179055.8 | transcript | ENST00000641530.1 | protein_coding | 3452 | chr9 | TogoVar | |||||||
OR13D1_chr9_104689518_104700462 | 104698943 | GAGGGGAG others(18): Show |
G | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02976.hp1 HG03453.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 5 | 394 | 0.0127 | -25 | c.*34 others(36): Show |
OR13D1 | ENSG00000179055.8 | transcript | ENST00000641530.1 | protein_coding | 3482 | chr9 | TogoVar | |||||||
OR13D1_chr9_104689518_104700462 | 104698953 | GAGGGGAG others(18): Show |
G | downstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 390 | 0.0026 | -25 | c.*34 others(36): Show |
OR13D1 | ENSG00000179055.8 | transcript | ENST00000641530.1 | protein_coding | 3492 | chr9 | TogoVar | |||||||
OR1E1_chr17_3392104_3403410 | 3396936 | GGCGTAGT others(18): Show |
G | downstream_gene_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 1 | 378 | 0.0026 | -25 | c.*50 others(34): Show |
OR1E1 | ENSG00000180016.2 | transcript | ENST00000322608.2 | protein_coding | 167 | chr17 | TogoVar | |||||||
OR2AG1_chr11_6778020_6796558 | 6779202 | ATATATAT others(18): Show |
A | upstream_gene_variant | MODIFIER | NA18971.hp2 NA18976.hp1 NA19072.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0008 | a0003c0003t0008g0004 | 4 | 417 | 0.0096 | -25 | c.-42 others(36): Show |
OR2AG1 | ENSG00000279486.6 | transcript | ENST00000641258.1 | protein_coding | 3817 | chr11 | TogoVar | |||||||
OR2AG1_chr11_6778020_6796558 | 6779204 | ATATATAT others(18): Show |
A | upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0004 | 1 | 446 | 0.0022 | -25 | c.-42 others(36): Show |
OR2AG1 | ENSG00000279486.6 | transcript | ENST00000641258.1 | protein_coding | 3815 | chr11 | TogoVar | |||||||
OR2AG1_chr11_6778020_6796558 | 6779210 | ATATATAT others(18): Show |
A | upstream_gene_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 460 | 0.0022 | -25 | c.-42 others(36): Show |
OR2AG1 | ENSG00000279486.6 | transcript | ENST00000641258.1 | protein_coding | 3809 | chr11 | TogoVar | |||||||
OR2C1_chr16_3350889_3362306 | 3351201 | TTTTTCTT others(18): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(299): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0002others(9): Show | a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0003t0002g0000 others(9): Show |
302 | 430 | 0.7023 | -25 | c.-47 others(36): Show |
OR2C1 | ENSG00000168158.4 | transcript | ENST00000304936.4 | protein_coding | 4687 | chr16 | TogoVar | |||||||
OR2T6_chr1_248370746_248396811 | 248374673 | CTTGGAAC others(18): Show |
C | upstream_gene_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG01243.hp1 others(41): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0005a0003c0003others(2): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0014others(6): Show | a0001c0001t0004g0005 a0001c0001t0004g0038 a0001c0001t0004g0041 others(15): Show |
44 | 402 | 0.1095 | -25 | c.-15 others(36): Show |
OR2T6 | ENSG00000198104.4 | transcript | ENST00000641644.1 | protein_coding | 1072 | chr1 | TogoVar | |||||||
OR4C15_chr11_55549469_55560419 | 55555134 | CTCTCTGA others(18): Show |
C | frameshift_variant | HIGH | HG02109.hp1 HG02280.hp1 HG02572.hp2 others(5): Show |
a0004a0006 | a0004c0006a0006c0007 | a0004c0006t0001a0006c0007t0001 | a0004c0006t0001g0000 a0006c0007t0001g0000 |
8 | 454 | 0.0176 | -25 | c.667 others(32): Show |
p.Ser others(5): Show |
OR4C15 | ENSG00000181939.3 | transcript | ENST00000642128.1 | protein_coding | 1/1 | 667/951 | 667/951 | 223/316 | chr11 | TogoVar | |||
OR4M2B_chr15_21632909_21643992 | 21641439 | GCAATATC others(18): Show |
G | downstream_gene_variant | MODIFIER | NA18989.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0000 | 1 | 214 | 0.0047 | -25 | c.*24 others(36): Show |
OR4M2B | ENSG00000182974.3 | transcript | ENST00000332663.3 | protein_coding | 2448 | chr15 | TogoVar | |||||||
OR4N4C_chr15_21646844_21657968 | 21653435 | ATTTTTAT others(18): Show |
A | downstream_gene_variant | MODIFIER | HG02257.hp1 HG02818.hp2 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 4 | 195 | 0.0205 | -25 | c.*55 others(34): Show |
OR4N4C | ENSG00000279408.3 | transcript | ENST00000623441.1 | protein_coding | 468 | chr15 | TogoVar | |||||||
OR4Q3_chr14_19738571_19754469 | 19749882 | CTTTCTTT others(18): Show |
C | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00597.hp1 others(39): Show |
a0001a0009a0010 | a0001c0001a0009c0009a0010c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 others(7): Show |
42 | 274 | 0.1533 | -25 | c.*15 others(36): Show |
OR4Q3 | ENSG00000182652.4 | transcript | ENST00000642117.2 | protein_coding | 414 | chr14 | TogoVar | |||||||
OR4X1_chr11_48258861_48269778 | 48268292 | CTTATTTT others(18): Show |
C | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02280.hp2 HG02572.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 6 | 67 | 0.0896 | -25 | c.*35 others(36): Show |
OR4X1 | ENSG00000176567.1 | transcript | ENST00000320048.1 | protein_coding | 3515 | chr11 | TogoVar | |||||||
OR51A2_chr11_4949772_4960713 | 4955749 | ATACACCT others(18): Show |
A | upstream_gene_variant | MODIFIER | NA18990.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0000 | 1 | 342 | 0.0029 | -25 | c.-61 others(32): Show |
OR51A2 | ENSG00000205496.1 | transcript | ENST00000380371.1 | protein_coding | 37 | chr11 | TogoVar | |||||||
OR52E5_chr11_5888208_5907730 | 5895650 | GGCATTTA others(18): Show |
G | 5_prime_UTR_variant | MODIFIER | NA20905.hp1 | a0009 | a0009c0012 | a0009c0012t0011 | a0009c0012t0011g0104 | 1 | 462 | 0.0022 | -25 | c.-20 others(34): Show |
OR52E5 | ENSG00000277932.2 | transcript | ENST00000610445.2 | protein_coding | 2/3 | 5097 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
OR52E5_chr11_5888208_5907730 | 5900916 | TCCTGTTT others(18): Show |
T | frameshift_variant | HIGH | HG02056.hp2 | a0010 | a0010c0014 | a0010c0014t0015 | a0010c0014t0015g0004 | 1 | 462 | 0.0022 | -25 | c.141 others(32): Show |
p.Leu others(4): Show |
OR52E5 | ENSG00000277932.2 | transcript | ENST00000610445.2 | protein_coding | 3/3 | 431/2244 | 141/984 | 47/327 | chr11 | TogoVar | |||
OR5H6_chr3_98259244_98270356 | 98267802 | CAGACAGG others(18): Show |
C | downstream_gene_variant | MODIFIER | HG03130.hp1 | a0014 | a0014c0019 | a0014c0019t0002 | a0014c0019t0002g0000 | 1 | 440 | 0.0023 | -25 | c.*25 others(36): Show |
OR5H6 | ENSG00000230301.6 | transcript | ENST00000615035.3 | protein_coding | 2447 | chr3 | TogoVar | |||||||
OR6B2_chr2_240024491_240035429 | 240025945 | CTTTTTTT others(18): Show |
C | downstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 46 | 0.0217 | -25 | c.*35 others(36): Show |
OR6B2 | ENSG00000182083.8 | transcript | ENST00000319423.5 | protein_coding | 3545 | chr2 | TogoVar | |||||||
OR6J1_chr14_22625929_22649352 | 22637950 | GGAGGCCT others(18): Show |
G | intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 360 | 0.0028 | -25 | c.-27 others(42): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
OR6X1_chr11_123748580_123759518 | 123750304 | CTTCACCG others(18): Show |
C | downstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 436 | 0.0023 | -25 | c.*32 others(36): Show |
OR6X1 | ENSG00000221931.3 | transcript | ENST00000327930.3 | protein_coding | 3275 | chr11 | TogoVar | |||||||
OR7A10_chr19_14835466_14853922 | 14849426 | CTTCTTCT others(18): Show |
C | upstream_gene_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 486 | 0.0021 | -25 | c.-96 others(34): Show |
OR7A10 | ENSG00000127515.3 | transcript | ENST00000641129.1 | protein_coding | 505 | chr19 | TogoVar | |||||||
OR8S1_chr12_48520632_48531570 | 48521339 | CGTGGAAA others(18): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(185): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0000 a0002c0002t0001g0000 a0003c0003t0001g0000 others(2): Show |
188 | 442 | 0.4253 | -25 | c.-42 others(36): Show |
OR8S1 | ENSG00000284723.2 | transcript | ENST00000641651.1 | protein_coding | 4292 | chr12 | TogoVar | |||||||
OR8S1_chr12_48520632_48531570 | 48521365 | GTGGAAAG others(18): Show |
G | upstream_gene_variant | MODIFIER | NA18946.hp1 NA18992.hp2 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 441 | 0.0068 | -25 | c.-42 others(36): Show |
OR8S1 | ENSG00000284723.2 | transcript | ENST00000641651.1 | protein_coding | 4266 | chr12 | TogoVar | |||||||
OR8S1_chr12_48520632_48531570 | 48521390 | ATGGAAAG others(18): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00597.hp1 others(41): Show |
a0001a0007 | a0001c0001a0001c0006a0007c0008 | a0001c0001t0001a0001c0006t0001a0007c0008t0001 | a0001c0001t0001g0000 a0001c0006t0001g0000 a0007c0008t0001g0000 |
44 | 128 | 0.3438 | -25 | c.-42 others(36): Show |
OR8S1 | ENSG00000284723.2 | transcript | ENST00000641651.1 | protein_coding | 4241 | chr12 | TogoVar | |||||||
OR9Q1_chr11_58018881_58186616 | 58037679 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00741.hp1 HG01257.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0008 | a0001c0001t0001a0001c0002t0001a0001c0002t0017others(1): Show | a0001c0001t0001g0003 a0001c0002t0001g0313 a0001c0002t0017g0285 others(1): Show |
5 | 297 | 0.0168 | -25 | c.-93 others(44): Show |
OR9Q1 | ENSG00000186509.4 | transcript | ENST00000335397.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
OR9Q1_chr11_58018881_58186616 | 58037681 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01099.hp2 HG01346.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0303 a0001c0001t0002g0302 a0001c0002t0001g0292 others(1): Show |
4 | 284 | 0.0141 | -25 | c.-93 others(44): Show |
OR9Q1 | ENSG00000186509.4 | transcript | ENST00000335397.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
OR9Q1_chr11_58018881_58186616 | 58037683 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01070.hp2 HG01071.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0007a0001c0002t0016 | a0001c0002t0001g0284 a0001c0002t0001g0291 a0001c0002t0001g0293 others(6): Show |
9 | 290 | 0.0310 | -25 | c.-93 others(44): Show |
OR9Q1 | ENSG00000186509.4 | transcript | ENST00000335397.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
OR9Q1_chr11_58018881_58186616 | 58037689 | ATTTTTTT others(18): Show |
A | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0256 | 1 | 257 | 0.0039 | -25 | c.-93 others(44): Show |
OR9Q1 | ENSG00000186509.4 | transcript | ENST00000335397.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
OS9_chr12_57689132_57726557 | 57712607 | TATGTTTC others(18): Show |
T | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 350 | 0.0029 | -25 | c.580 others(42): Show |
OS9 | ENSG00000135506.17 | transcript | ENST00000315970.12 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
OSBPL10_chr3_31655825_31986262 | 31783818 | AAAAAAAT others(18): Show |
A | intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0047 | 1 | 181 | 0.0055 | -25 | c.730 others(44): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 4/11 | chr3 | TogoVar | |||||||
OSBPL5_chr11_3082107_3170310 | 3142986 | AGGGCAGA others(18): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG01123.hp1 others(39): Show |
a0001a0002a0009 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(19): Show | a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0002g0200 others(39): Show |
42 | 324 | 0.1296 | -25 | c.-21 others(44): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 1/21 | chr11 | TogoVar | |||||||
OSBPL5_chr11_3082107_3170310 | 3143008 | AGGGGGGC others(18): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0320 | 1 | 322 | 0.0031 | -25 | c.-21 others(44): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 1/21 | chr11 | TogoVar | |||||||
OSBPL5_chr11_3082107_3170310 | 3143111 | CGGGCAGA others(18): Show |
C | intron_variant | MODIFIER | HG01515.hp1 HG02818.hp1 HG02965.hp1 |
a0005a0006a0010 | a0005c0013a0006c0028a0010c0027 | a0005c0013t0017a0006c0028t0001a0010c0027t0009 | a0005c0013t0017g0121 a0006c0028t0001g0014 a0010c0027t0009g0006 |
3 | 320 | 0.0094 | -25 | c.-21 others(44): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 1/21 | chr11 | TogoVar | |||||||
OSBPL5_chr11_3082107_3170310 | 3143136 | GGGGCAGA others(18): Show |
G | intron_variant | MODIFIER | HG01515.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 315 | 0.0063 | -25 | c.-21 others(44): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 1/21 | chr11 | TogoVar | |||||||
OSTF1_chr9_75083514_75152265 | 75128456 | CATATATA others(18): Show |
C | intron_variant | MODIFIER | HG01928.hp2 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273 a0001c0001t0001g0275 |
2 | 265 | 0.0075 | -25 | c.132 others(40): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
OTOG_chr11_17542259_17651044 | 17613168 | CCTTTTCT others(18): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01515.hp2 HG01884.hp1 others(18): Show |
a0001a0002a0007others(15): Show | a0001c0001a0002c0021a0007c0004others(15): Show | a0001c0001t0001a0002c0021t0001a0007c0004t0002others(15): Show | a0001c0001t0001g0104 a0002c0021t0001g0096 a0002c0021t0001g0106 others(17): Show |
21 | 266 | 0.0789 | -25 | c.643 others(42): Show |
OTOG | ENSG00000188162.12 | transcript | ENST00000399397.6 | protein_coding | 38/55 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
OTUD7A_chr15_31470398_31875673 | 31510505 | TACATATA others(18): Show |
T | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0204 | 1 | 241 | 0.0041 | -25 | c.894 others(42): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | |||||||
OTUD7A_chr15_31470398_31875673 | 31510511 | TATATGTA others(18): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG01928.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0007 | a0001c0001t0001a0001c0001t0063a0002c0003t0003others(3): Show | a0001c0001t0001g0236 a0001c0001t0063g0060 a0002c0003t0003g0164 others(5): Show |
8 | 229 | 0.0349 | -25 | c.894 others(42): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | |||||||
OTULIN_chr5_14659718_14704850 | 14703324 | CAAAAAAA others(18): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG01106.hp1 others(26): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0009 | a0001c0001t0004a0001c0001t0026a0001c0001t0042others(6): Show | a0001c0001t0004g0016 a0001c0001t0004g0021 a0001c0001t0004g0110 others(18): Show |
29 | 47 | 0.6170 | -25 | c.*10 others(38): Show |
OTULIN | ENSG00000154124.6 | transcript | ENST00000284274.5 | protein_coding | 3475 | chr5 | TogoVar | |||||||
OXNAD1_chr3_16260212_16311087 | 16294271 | TGGCTCAC others(18): Show |
T | intron_variant | MODIFIER | HG02165.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0077 | 1 | 382 | 0.0026 | -25 | c.291 others(40): Show |
OXNAD1 | ENSG00000154814.14 | transcript | ENST00000285083.10 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
OXR1_chr8_106265190_106757694 | 106405177 | TATATATA others(18): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG02922.hp1 HG03471.hp2 others(2): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0002a0001c0001t0015a0001c0002t0002others(2): Show | a0001c0001t0002g0084 a0001c0001t0015g0162 a0001c0002t0002g0022 others(2): Show |
5 | 170 | 0.0294 | -25 | c.23+ others(42): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 2/16 | chr8 | TogoVar |