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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NPIPB13_chr16_30217897_30253479 | 30223941 | C | CCCCCGCA others(6): Show |
frameshift_variant | HIGH | HG00099.hp2 HG00639.hp1 HG00741.hp2 others(5): Show |
a0006a0010a0018others(2): Show | a0006c0010a0006c0057a0010c0038others(3): Show | a0006c0010t0002a0006c0057t0003a0010c0038t0001others(3): Show | a0006c0010t0002g0126 a0006c0010t0002g0127 a0006c0010t0002g0129 others(5): Show |
8 | 144 | 0.0556 | 13 | c.249 others(22): Show |
p.Pro others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 5247/6292 | 2504/3417 | 835/1138 | chr16 | TogoVar | |||
NPIPB13_chr16_30217897_30253479 | 30223954 | TCGGCAGG others(106): Show |
T | frameshift_variant | HIGH | HG00323.hp1 HG00558.hp2 HG00597.hp2 others(28): Show |
a0001a0003a0007others(2): Show | a0001c0001a0001c0002a0001c0017others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(12): Show | a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0049 others(28): Show |
31 | 144 | 0.2153 | -113 | c.237 others(9): Show |
p.Pro others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 5234/6292 | 2379/3417 | 793/1138 | chr16 | TogoVar | |||
NPIPB13_chr16_30217897_30253479 | 30224193 | CCCCCGCA others(6): Show |
C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(120): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0002a0001c0017others(42): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(64): Show | a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0040 others(120): Show |
123 | 144 | 0.8542 | -13 | c.224 others(22): Show |
p.Glu others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 4995/6292 | 2240/3417 | 747/1138 | chr16 | TogoVar | |||
NPIPB13_chr16_30217897_30253479 | 30224580 | GCGGAATC others(12): Show |
G | frameshift_variant | HIGH | HG00099.hp2 HG00544.hp1 HG00639.hp1 others(6): Show |
a0006a0010a0018others(2): Show | a0006c0010a0006c0057a0010c0038others(4): Show | a0006c0010t0002a0006c0057t0003a0010c0038t0001others(4): Show | a0006c0010t0002g0126 a0006c0010t0002g0127 a0006c0010t0002g0129 others(6): Show |
9 | 144 | 0.0625 | -19 | c.184 others(28): Show |
p.Leu others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 4608/6292 | 1847/3417 | 616/1138 | chr16 | TogoVar | |||
NPIPB13_chr16_30217897_30253479 | 30224705 | A | AGCGGCCC others(12): Show |
frameshift_variant | HIGH | HG00099.hp2 HG00544.hp1 HG00639.hp1 others(7): Show |
a0006a0010a0018others(3): Show | a0006c0010a0006c0057a0010c0038others(5): Show | a0006c0010t0002a0006c0057t0003a0010c0038t0001others(5): Show | a0006c0010t0002g0126 a0006c0010t0002g0127 a0006c0010t0002g0129 others(7): Show |
10 | 114 | 0.0877 | 19 | c.174 others(28): Show |
p.Phe others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 4483/6292 | 1740/3417 | 580/1138 | chr16 | TogoVar | |||
NPIPB2_chr16_11922373_11947045 | 11933617 | CAT | C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(393): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0003a0001c0004others(24): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(24): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(325): Show |
396 | 412 | 0.9612 | -2 | c.386 others(9): Show |
p.His others(5): Show |
NPIPB2 | ENSG00000234719.9 | transcript | ENST00000399147.8 | protein_coding | 4/8 | 387/1194 | 386/1194 | 129/397 | chr16 | TogoVar | |||
NPIPB4_chr16_21829582_21862756 | 21835504 | C | CCCCCGCA others(6): Show |
frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00738.hp2 others(8): Show |
a0007a0021a0025others(2): Show | a0007c0008a0021c0021a0025c0067others(2): Show | a0007c0008t0001a0021c0021t0001a0025c0067t0001others(2): Show | a0007c0008t0001g0001 a0007c0008t0001g0081 a0007c0008t0001g0085 others(7): Show |
11 | 204 | 0.0539 | 13 | c.287 others(22): Show |
p.Pro others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 3097/4020 | 2882/3669 | 961/1222 | chr16 | TogoVar | |||
NPIPB4_chr16_21829582_21862756 | 21835882 | CCCCCGCA others(6): Show |
C | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(38): Show |
a0004a0007a0014others(14): Show | a0004c0006a0004c0015a0004c0064others(18): Show | a0004c0006t0001a0004c0015t0001a0004c0064t0001others(18): Show | a0004c0006t0001g0002 a0004c0006t0001g0044 a0004c0006t0001g0094 others(36): Show |
41 | 204 | 0.2010 | -13 | c.249 others(22): Show |
p.Glu others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2719/4020 | 2492/3669 | 831/1222 | chr16 | TogoVar | |||
NPIPB4_chr16_21829582_21862756 | 21836142 | AGCGGCCC others(12): Show |
A | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00738.hp2 others(10): Show |
a0007a0014a0025others(3): Show | a0007c0008a0014c0022a0014c0056others(4): Show | a0007c0008t0001a0014c0022t0001a0014c0056t0001others(4): Show | a0007c0008t0001g0001 a0007c0008t0001g0081 a0007c0008t0001g0085 others(9): Show |
13 | 204 | 0.0637 | -19 | c.222 others(28): Show |
p.Val others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2459/4020 | 2226/3669 | 742/1222 | chr16 | TogoVar | |||
NPIPB4_chr16_21829582_21862756 | 21836303 | ATTATCAT others(226): Show |
A | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00738.hp2 others(8): Show |
a0007a0014a0025others(1): Show | a0007c0008a0014c0022a0014c0056others(2): Show | a0007c0008t0001a0014c0022t0001a0014c0056t0001others(2): Show | a0007c0008t0001g0001 a0007c0008t0001g0081 a0007c0008t0001g0085 others(7): Show |
11 | 202 | 0.0545 | -233 | c.185 others(9): Show |
p.Phe others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2298/4020 | 1851/3669 | 617/1222 | chr16 | TogoVar | |||
NPIPB5_chr16_22505891_22541535 | 22534043 | G | GCGGATGA others(30): Show |
frameshift_variant | HIGH | HG01981.hp2 | a0014 | a0014c0031 | a0014c0031t0008 | a0014c0031t0008g0013 | 1 | 46 | 0.0217 | 37 | c.106 others(46): Show |
p.Leu others(5): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 3973/6463 | 1062/3402 | 354/1133 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
NRK_chrX_105817539_105963610 | 105887094 | ATTAAAAT others(1388): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG01981.hp1 | a0008 | a0008c0006 | a0008c0006t0001 | a0008c0006t0001g0114 | 1 | 217 | 0.0046 | -1395 | c.253 others(15): Show |
NRK | ENSG00000123572.17 | transcript | ENST00000243300.14 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NUTM2A_chr10_87220448_87239978 | 87226077 | TC | T | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(378): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(65): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(74): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(158): Show |
381 | 402 | 0.9478 | -1 | c.250 others(4): Show |
p.Leu others(4): Show |
NUTM2A | ENSG00000184923.12 | transcript | ENST00000381707.6 | protein_coding | 1/7 | 633/3290 | 250/2637 | 84/878 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
OR10D3_chr11_124178345_124193780 | 124186025 | T | G | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(234): Show |
a0002a0003a0004others(1): Show | a0002c0002a0002c0011a0003c0003others(4): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0008others(32): Show | a0002c0002t0001g0001 a0002c0002t0001g0009 a0002c0002t0001g0025 others(45): Show |
237 | 434 | 0.5461 | 0 | c.756 others(3): Show |
p.Tyr others(4): Show |
OR10D3 | ENSG00000197309.5 | transcript | ENST00000641351.3 | protein_coding | 2/2 | 806/3561 | 756/939 | 252/312 | chr11 | TogoVar | |||
OR10J1_chr1_159434722_159445967 | 159440550 | T | A | stop_gained | HIGH | HG00280.hp2 HG00738.hp1 HG01070.hp2 others(20): Show |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0004 | a0004c0004t0001g0000 a0004c0004t0004g0000 |
23 | 454 | 0.0507 | 0 | c.759 others(3): Show |
p.Cys others(4): Show |
OR10J1 | ENSG00000196184.10 | transcript | ENST00000423932.6 | protein_coding | 1/1 | 829/1246 | 759/930 | 253/309 | chr1 | TogoVar | |||
OR10X1_chr1_158573919_158584899 | 158579702 | C | T | stop_gained | HIGH | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(209): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(1): Show | a0001c0001t0001g0000 a0001c0004t0001g0000 a0001c0006t0001g0000 others(1): Show |
212 | 428 | 0.4953 | 0 | c.198 others(3): Show |
p.Trp others(3): Show |
OR10X1 | ENSG00000279111.2 | transcript | ENST00000623167.1 | protein_coding | 1/1 | 198/981 | 198/981 | 66/326 | chr1 | TogoVar | |||
OR11G2_chr14_20185896_20206075 | 20198016 | C | CA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(271): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0015a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(59): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(101): Show |
274 | 478 | 0.5732 | 1 | c.585 others(4): Show |
p.Gly others(5): Show |
OR11G2 | ENSG00000196832.5 | transcript | ENST00000641879.2 | protein_coding | 2/2 | 1361/4413 | 586/936 | 196/311 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||
OR1B1_chr9_122623125_122662627 | 122628962 | G | A | stop_gained | HIGH | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(158): Show |
a0002a0003a0006 | a0002c0002a0002c0016a0002c0017others(2): Show | a0002c0002t0002a0002c0002t0011a0002c0016t0002others(3): Show | a0002c0002t0002g0001 a0002c0002t0002g0007 a0002c0002t0002g0021 others(81): Show |
161 | 418 | 0.3852 | 0 | c.571 others(3): Show |
p.Arg others(4): Show |
OR1B1 | ENSG00000280094.3 | transcript | ENST00000623530.2 | protein_coding | 2/2 | 1104/1941 | 571/954 | 191/317 | chr9 | TogoVar | |||
OR1R1P_chr17_3380930_3391874 | 3385989 | A | AACAG | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(198): Show |
a0001 | a0001c0001a0001c0010a0001c0011others(3): Show | a0001c0001t0001a0001c0010t0001a0001c0011t0001others(3): Show | a0001c0001t0001g0000 a0001c0010t0001g0000 a0001c0011t0001g0000 others(3): Show |
201 | 414 | 0.4855 | 4 | c.63_ others(9): Show |
p.Ala others(4): Show |
OR1R1P | ENSG00000180042.5 | transcript | ENST00000572493.2 | protein_coding | 1/1 | 67/945 | 67/945 | 23/314 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
OR1S1_chr11_58207720_58221084 | 58215722 | A | G | stop_lost | HIGH | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(223): Show |
a0001a0012 | a0001c0001a0001c0005a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(13): Show |
226 | 458 | 0.4935 | 0 | c.939 others(3): Show |
p.Ter others(11): Show |
OR1S1 | ENSG00000280204.4 | transcript | ENST00000641544.1 | protein_coding | 2/2 | 1112/1474 | 939/939 | 313/312 | chr11 | TogoVar | |||
OR2B11_chr1_247444182_247463104 | 247451959 | GA | G | frameshift_variant | HIGH | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(217): Show |
a0001 | a0001c0002a0001c0003a0001c0006others(11): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0007others(71): Show | a0001c0002t0001g0001 a0001c0002t0001g0046 a0001c0002t0001g0115 others(79): Show |
220 | 476 | 0.4622 | -1 | c.23d others(3): Show |
p.Phe others(3): Show |
OR2B11 | ENSG00000177535.10 | transcript | ENST00000641149.2 | protein_coding | 2/2 | 3571/6349 | 23/954 | 8/317 | chr1 | TogoVar | |||
OR2L8_chr1_247943858_247954796 | 247949724 | T | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(273): Show |
a0001a0007a0008others(1): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(4): Show | a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0006t0001g0000 others(4): Show |
276 | 378 | 0.7302 | 0 | c.867 others(3): Show |
p.Tyr others(4): Show |
OR2L8 | ENSG00000279263.1 | transcript | ENST00000623922.1 | protein_coding | 1/1 | 867/939 | 867/939 | 289/312 | chr1 | TogoVar | |||
OR2T12_chr1_248285139_248308424 | 248295573 | CT | C | frameshift_variant | HIGH | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(96): Show |
a0002 | a0002c0002a0002c0031a0002c0032others(2): Show | a0002c0002t0002a0002c0002t0026a0002c0002t0033others(7): Show | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0011 others(16): Show |
99 | 404 | 0.2451 | -1 | c.5de others(2): Show |
p.Glu others(3): Show |
OR2T12 | ENSG00000177201.3 | transcript | ENST00000641276.1 | protein_coding | 3/3 | 273/5708 | 5/963 | 2/320 | chr1 | TogoVar | |||
OR2T35_chr1_248631356_248650278 | 248638301 | T | TCA | frameshift_variant | HIGH | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(298): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(91): Show |
301 | 306 | 0.9837 | 2 | c.956 others(9): Show |
p.Ile others(5): Show |
OR2T35 | ENSG00000177151.5 | transcript | ENST00000641268.1 | protein_coding | 2/2 | 1011/2957 | 957/972 | 319/323 | chr1 | TogoVar | |||
OR2T35_chr1_248631356_248650278 | 248638643 | TCAGCACG | T | frameshift_variant | HIGH | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(296): Show |
a0001a0002a0007others(2): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(91): Show |
299 | 308 | 0.9708 | -7 | c.609 others(14): Show |
p.Cys others(5): Show |
OR2T35 | ENSG00000177151.5 | transcript | ENST00000641268.1 | protein_coding | 2/2 | 669/2957 | 609/972 | 203/323 | chr1 | TogoVar | |||
OR2T4_chr1_248356665_248367627 | 248361635 | ATGGGACT others(77): Show |
A | frameshift_variant others(1): Show |
HIGH | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(104): Show |
a0003 | a0003c0003a0003c0007a0003c0009 | a0003c0003t0001a0003c0007t0001a0003c0009t0001 | a0003c0003t0001g0000 a0003c0007t0001g0000 a0003c0009t0001g0000 |
107 | 428 | 0.2500 | -84 | c.-29 others(90): Show |
p.Met others(3): Show |
OR2T4 | ENSG00000196944.5 | transcript | ENST00000366473.4 | protein_coding | 1/1 | 1/963 | 1/320 | chr1 | TogoVar | ||||
OR2T4_chr1_248356665_248367627 | 248361985 | CTACG | C | frameshift_variant | HIGH | HG01261.hp2 HG01884.hp2 HG01891.hp1 others(11): Show |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0000 | 14 | 428 | 0.0327 | -4 | c.323 others(11): Show |
p.Tyr others(5): Show |
OR2T4 | ENSG00000196944.5 | transcript | ENST00000366473.4 | protein_coding | 1/1 | 323/963 | 323/963 | 108/320 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
OR2T4_chr1_248356665_248367627 | 248362026 | C | CTA | frameshift_variant | HIGH | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(133): Show |
a0003a0004a0005 | a0003c0003a0003c0007a0003c0009others(2): Show | a0003c0003t0001a0003c0007t0001a0003c0009t0001others(2): Show | a0003c0003t0001g0000 a0003c0007t0001g0000 a0003c0009t0001g0000 others(2): Show |
136 | 428 | 0.3178 | 2 | c.362 others(9): Show |
p.Met others(5): Show |
OR2T4 | ENSG00000196944.5 | transcript | ENST00000366473.4 | protein_coding | 1/1 | 363/963 | 363/963 | 121/320 | chr1 | TogoVar | |||
OR2W3_chr1_247890587_247901531 | 247896477 | G | GA | frameshift_variant | HIGH | HG00140.hp2 HG00642.hp2 HG01081.hp1 others(32): Show |
a0004a0021 | a0004c0005a0004c0028a0021c0026 | a0004c0005t0001a0004c0028t0001a0021c0026t0001 | a0004c0005t0001g0000 a0004c0028t0001g0000 a0021c0026t0001g0000 |
35 | 386 | 0.0907 | 1 | c.893 others(4): Show |
p.Ala others(5): Show |
OR2W3 | ENSG00000238243.3 | transcript | ENST00000360358.3 | protein_coding | 1/1 | 894/945 | 894/945 | 298/314 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
OR4E1_chr14_21662886_21678818 | 21670346 | TG | T | frameshift_variant | HIGH | HG00323.hp1 HG00609.hp2 HG00639.hp2 others(17): Show |
a0004 | a0004c0004a0004c0013 | a0004c0004t0006a0004c0004t0016a0004c0013t0024 | a0004c0004t0006g0006 a0004c0004t0016g0017 a0004c0013t0024g0029 |
20 | 452 | 0.0442 | -1 | c.589 others(4): Show |
p.His others(5): Show |
OR4E1 | ENSG00000276240.4 | transcript | ENST00000641792.2 | protein_coding | 2/2 | 1335/3796 | 589/948 | 197/315 | chr14 | TogoVar | |||
OR4E1_chr14_21662886_21678818 | 21670348 | G | GGT | frameshift_variant | HIGH | HG00140.hp2 HG00408.hp1 HG00423.hp1 others(151): Show |
a0001a0010a0012 | a0001c0001a0001c0012a0010c0014others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0012 others(11): Show |
154 | 452 | 0.3407 | 2 | c.586 others(9): Show |
p.His others(5): Show |
OR4E1 | ENSG00000276240.4 | transcript | ENST00000641792.2 | protein_coding | 2/2 | 1333/3796 | 587/948 | 196/315 | chr14 | TogoVar | |||
OR4F5_chr1_60419_76585 | 69849 | G | A | stop_gained | HIGH | HG01928.hp1 HG01981.hp1 HG01993.hp1 others(39): Show |
a0002a0011 | a0002c0002a0011c0016 | a0002c0002t0002a0002c0002t0012a0011c0016t0002 | a0002c0002t0002g0002 a0002c0002t0002g0008 a0002c0002t0002g0025 others(3): Show |
42 | 214 | 0.1963 | 0 | c.822 others(3): Show |
p.Trp others(4): Show |
OR4F5 | ENSG00000186092.7 | transcript | ENST00000641515.2 | protein_coding | 3/3 | 882/2618 | 822/981 | 274/326 | chr1 | TogoVar | |||
OR4X1_chr11_48258861_48269778 | 48264679 | T | A | stop_gained | HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(223): Show |
a0002a0003a0005others(1): Show | a0002c0002a0002c0004a0002c0005others(7): Show | a0002c0002t0001a0002c0004t0001a0002c0005t0001others(7): Show | a0002c0002t0001g0000 a0002c0004t0001g0000 a0002c0005t0001g0000 others(7): Show |
226 | 400 | 0.5650 | 0 | c.819 others(3): Show |
p.Tyr others(4): Show |
OR4X1 | ENSG00000176567.1 | transcript | ENST00000320048.1 | protein_coding | 1/1 | 819/918 | 819/918 | 273/305 | chr11 | TogoVar | |||
OR51I1_chr11_5435570_5446514 | 5441472 | G | A | stop_gained | HIGH | HG00423.hp2 HG00438.hp2 HG00544.hp1 others(81): Show |
a0003 | a0003c0003a0003c0007a0003c0018 | a0003c0003t0001a0003c0007t0001a0003c0018t0001 | a0003c0003t0001g0000 a0003c0007t0001g0000 a0003c0018t0001g0000 |
84 | 470 | 0.1787 | 0 | c.43C others(2): Show |
p.Gln others(3): Show |
OR51I1 | ENSG00000167359.8 | transcript | ENST00000380211.1 | protein_coding | 1/1 | 43/945 | 43/945 | 15/314 | chr11 | TogoVar | |||
OR51Q1_chr11_5417111_5428206 | 5422906 | C | T | stop_gained | HIGH | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(211): Show |
a0002a0003a0008 | a0002c0002a0003c0003a0008c0007 | a0002c0002t0001a0002c0002t0003a0003c0003t0001others(1): Show | a0002c0002t0001g0000 a0002c0002t0003g0000 a0003c0003t0001g0000 others(1): Show |
214 | 452 | 0.4735 | 0 | c.706 others(3): Show |
p.Arg others(4): Show |
OR51Q1 | ENSG00000167360.6 | transcript | ENST00000300778.4 | protein_coding | 1/1 | 796/1096 | 706/954 | 236/317 | chr11 | TogoVar | |||
OR52A1_chr11_5141824_5159757 | 5151565 | A | AC | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(62): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003a0002c0002t0010others(10): Show | a0002c0002t0002g0014 a0002c0002t0003g0003 a0002c0002t0003g0017 others(17): Show |
65 | 436 | 0.1491 | 1 | c.804 others(4): Show |
p.Ser others(5): Show |
OR52A1 | ENSG00000182070.7 | transcript | ENST00000380367.3 | protein_coding | 2/2 | 1436/6178 | 804/939 | 268/312 | chr11 | TogoVar | |||
OR52B4_chr11_4362263_4373386 | 4368174 | AG | A | frameshift_variant | HIGH | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(170): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004 | a0002c0002t0001g0000 a0002c0002t0004g0000 |
173 | 464 | 0.3728 | -1 | c.121 others(4): Show |
p.Leu others(4): Show |
OR52B4 | ENSG00000221996.6 | transcript | ENST00000624801.3 | protein_coding | 1/1 | 212/1124 | 121/945 | 41/314 | chr11 | TogoVar | |||
OR52D1_chr11_5483685_5494749 | 5489310 | G | GGGCT | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(45): Show |
a0004a0012 | a0004c0006a0004c0017a0004c0018others(1): Show | a0004c0006t0001a0004c0017t0001a0004c0018t0001others(1): Show | a0004c0006t0001g0000 a0004c0017t0001g0000 a0004c0018t0001g0000 others(1): Show |
48 | 462 | 0.1039 | 4 | c.605 others(11): Show |
p.Thr others(5): Show |
OR52D1 | ENSG00000181609.5 | transcript | ENST00000322641.5 | protein_coding | 1/1 | 631/1065 | 609/957 | 203/318 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
OR52E8_chr11_5851749_5862690 | 5856749 | T | A | stop_lost others(1): Show |
HIGH | HG00099.hp2 HG00323.hp2 HG00423.hp1 others(165): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 168 | 434 | 0.3871 | 0 | c.942 others(3): Show |
p.Ter others(11): Show |
OR52E8 | ENSG00000183269.6 | transcript | ENST00000537935.2 | protein_coding | 1/1 | 942/942 | 942/942 | 314/313 | chr11 | TogoVar | |||
OR52J3_chr11_5041526_5052461 | 5047432 | C | T | stop_gained | HIGH | HG00639.hp1 HG00642.hp1 HG00642.hp2 others(46): Show |
a0003a0005a0008 | a0003c0003a0005c0005a0008c0015 | a0003c0003t0001a0005c0005t0001a0008c0015t0001 | a0003c0003t0001g0000 a0005c0005t0001g0000 a0008c0015t0001g0000 |
49 | 446 | 0.1099 | 0 | c.907 others(3): Show |
p.Arg others(4): Show |
OR52J3 | ENSG00000205495.1 | transcript | ENST00000380370.1 | protein_coding | 1/1 | 907/936 | 907/936 | 303/311 | chr11 | TogoVar | |||
OR5AR1_chr11_56658686_56669618 | 56663740 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(300): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(2): Show | a0001c0001t0001g0000 a0001c0003t0001g0000 a0001c0005t0001g0000 others(2): Show |
303 | 430 | 0.7047 | 0 | c.55C others(2): Show |
p.Gln others(3): Show |
OR5AR1 | ENSG00000172459.5 | transcript | ENST00000624596.2 | protein_coding | 1/1 | 55/933 | 55/933 | 19/310 | chr11 | TogoVar | |||
OR6C1_chr12_55309343_55327364 | 55320622 | C | CA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(169): Show |
a0002 | a0002c0002a0002c0005a0002c0007others(2): Show | a0002c0002t0001a0002c0005t0002a0002c0005t0004others(3): Show | a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 others(44): Show |
172 | 472 | 0.3644 | 1 | c.24d others(3): Show |
p.Glu others(3): Show |
OR6C1 | ENSG00000205330.4 | transcript | ENST00000642104.1 | protein_coding | 2/2 | 315/2055 | 25/939 | 9/312 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
OR8K1_chr11_56341039_56351998 | 56346040 | T | C | start_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(347): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(8): Show | a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0004t0001g0000 others(8): Show |
350 | 436 | 0.8028 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
OR8K1 | ENSG00000150261.5 | transcript | ENST00000279783.5 | protein_coding | 1/1 | 2/960 | 2/960 | 1/319 | chr11 | TogoVar | |||
OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7603): Show |
frameshift_variant others(1): Show |
HIGH | HG00140.hp1 HG00621.hp1 HG00642.hp1 others(24): Show |
a0004a0007 | a0004c0004a0004c0021a0007c0023 | a0004c0004t0001a0004c0021t0001a0007c0023t0001 | a0004c0004t0001g0000 a0004c0021t0001g0000 a0007c0023t0001g0000 |
27 | 69 | 0.3913 | 7610 | c.590 others(7617): Show |
p.Phe others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 591/930 | 591/930 | 197/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7598): Show |
stop_gained others(1): Show |
HIGH | HG00140.hp2 HG00323.hp2 HG00438.hp1 others(127): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0013t0001 | a0001c0001t0001g0000 a0001c0013t0001g0000 |
130 | 172 | 0.7558 | 7605 | c.492 others(7612): Show |
p.Phe others(7618): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 493/930 | 493/930 | 165/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
P2RX5_chr17_3668227_3701155 | 3690982 | TG | T | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(215): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(196): Show |
218 | 360 | 0.6056 | -1 | c.333 others(4): Show |
p.Asn others(5): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 3/12 | 483/2060 | 333/1269 | 111/422 | chr17 | TogoVar | |||
P2RX6_chr22_21010165_21033008 | 21015259 | A | T | stop_gained | HIGH | HG01981.hp1 | a0003 | a0003c0016 | a0003c0016t0003 | a0003c0016t0003g0020 | 1 | 458 | 0.0022 | 0 | c.85A others(2): Show |
p.Lys others(3): Show |
P2RX6 | ENSG00000099957.17 | transcript | ENST00000413302.7 | protein_coding | 1/12 | 95/2727 | 85/1326 | 29/441 | chr22 | TogoVar | |||
PADI6_chr1_17367196_17406699 | 17398662 | C | CCCCACCC others(1): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG00323.hp1 HG00408.hp2 HG00438.hp2 others(49): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0003others(9): Show | a0001c0001t0002g0101 a0001c0001t0002g0177 a0001c0001t0004g0129 others(34): Show |
52 | 227 | 0.2291 | 8 | c.169 others(22): Show |
PADI6 | ENSG00000276747.1 | transcript | ENST00000619609.1 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196806643 | CTGCTCCT others(39): Show |
C | frameshift_variant others(3): Show |
HIGH | HG01981.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0157 | 1 | 176 | 0.0057 | -46 | c.534 others(55): Show |
p.Ala others(5): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 6/15 | 856/6139 | 534/1575 | 178/524 | chr3 | TogoVar | |||
PAK2_chr3_196734857_196837647 | 196820350 | C | CTGTTT | splice_acceptor_variant others(1): Show |
HIGH | HG00544.hp1 HG01070.hp2 HG01496.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0001t0008a0001c0001t0062others(2): Show | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0001t0062g0085 others(9): Show |
12 | 176 | 0.0682 | 5 | c.115 others(18): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |