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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OAS1_chr12_112901962_112924903 | 112919388 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(304): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0001c0010others(5): Show | a0001c0001t0001a0001c0004t0001a0001c0010t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(80): Show | 307 | 436 | 0.7041 | 0 | c.103 others(6): Show |
OAS1 | ENSG00000089127.15 | transcript | ENST00000202917.10 | protein_coding | 5/5 | chr12 | TogoVar | ||||||
OFD1_chrX_13729748_13774357 | 13760207 | G | GC | frameshift_variant | HIGH | NA19075.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0120 | 1 | 327 | 0.0031 | 1 | c.174 others(10): Show |
p.Gly others(5): Show |
OFD1 | ENSG00000046651.16 | transcript | ENST00000340096.11 | protein_coding | 16/23 | 2072/3612 | 1748/3039 | 583/1012 | chrX | TogoVar | ||
OFD1_chrX_13729748_13774357 | 13760497 | C | CA | frameshift_variant | HIGH | NA19075.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0120 | 1 | 327 | 0.0031 | 1 | c.204 others(5): Show |
p.Asn others(5): Show |
OFD1 | ENSG00000046651.16 | transcript | ENST00000340096.11 | protein_coding | 16/23 | 2367/3612 | 2043/3039 | 681/1012 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
OFD1_chrX_13729748_13774357 | 13760598 | T | TC | frameshift_variant | HIGH | NA19075.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0120 | 1 | 327 | 0.0031 | 1 | c.213 others(5): Show |
p.Val others(5): Show |
OFD1 | ENSG00000046651.16 | transcript | ENST00000340096.11 | protein_coding | 16/23 | 2464/3612 | 2140/3039 | 714/1012 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
OFD1_chrX_13729748_13774357 | 13760638 | C | CG | frameshift_variant | HIGH | NA19075.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0120 | 1 | 327 | 0.0031 | 1 | c.218 others(5): Show |
p.Thr others(5): Show |
OFD1 | ENSG00000046651.16 | transcript | ENST00000340096.11 | protein_coding | 16/23 | 2508/3612 | 2184/3039 | 728/1012 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
OFD1_chrX_13729748_13774357 | 13761083 | A | AG | frameshift_variant others(1): Show |
HIGH | NA19075.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0120 | 1 | 327 | 0.0031 | 1 | c.226 others(5): Show |
p.Leu others(5): Show |
OFD1 | ENSG00000046651.16 | transcript | ENST00000340096.11 | protein_coding | 17/23 | 2586/3612 | 2262/3039 | 754/1012 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
OR10AD1_chr12_48197339_48208292 | 48203092 | C | CA | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00639.hp1 others(74): Show |
a0002 | a0002c0002 | a0002c0002t0000 | a0002c0002t0000g0000 | 77 | 414 | 0.1860 | 1 | c.200 others(4): Show |
p.Ser others(4): Show |
OR10AD1 | ENSG00000172640.4 | transcript | ENST00000310248.4 | protein_coding | 1/1 | 200/954 | 200/954 | 67/317 | chr12 | TogoVar | ||
OR10D3_chr11_124178345_124193780 | 124186025 | T | G | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(235): Show |
a0002a0003a0004others(1): Show | a0002c0002a0002c0011a0003c0003others(4): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0008others(32): Show | a0002c0002t0001g0001a0002c0002t0001g0009a0002c0002t0001g0023others(45): Show | 238 | 436 | 0.5459 | 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 | ||
OR13C2_chr9_104599671_104610627 | 104605111 | TGTTA | T | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(171): Show |
a0002a0006a0007others(2): Show | a0002c0001a0002c0005a0002c0010others(4): Show | a0002c0001t0000a0002c0005t0000a0002c0010t0000others(4): Show | a0002c0001t0000g0000a0002c0005t0000g0000a0002c0010t0000g0000others(4): Show | 174 | 412 | 0.4223 | -4 | c.513 others(11): Show |
p.Asn others(5): Show |
OR13C2 | ENSG00000276119.1 | transcript | ENST00000542196.2 | protein_coding | 1/1 | 516/957 | 513/957 | 171/318 | chr9 | TogoVar | ||
OR13C2_chr9_104599671_104610627 | 104605383 | AGC | A | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(204): Show |
a0002a0003a0006others(3): Show | a0002c0001a0002c0005a0002c0010others(8): Show | a0002c0001t0000a0002c0005t0000a0002c0010t0000others(8): Show | a0002c0001t0000g0000a0002c0005t0000g0000a0002c0010t0000g0000others(8): Show | 207 | 412 | 0.5024 | -2 | c.243 others(9): Show |
p.Leu others(4): Show |
OR13C2 | ENSG00000276119.1 | transcript | ENST00000542196.2 | protein_coding | 1/1 | 244/957 | 243/957 | 81/318 | chr9 | TogoVar | ||
OR13C5_chr9_104593457_104604413 | 104598487 | GT | G | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00423.hp2 others(209): Show |
a0001a0004a0005others(5): Show | a0001c0001a0004c0004a0005c0005others(5): Show | a0001c0001t0000a0004c0004t0000a0005c0005t0000others(5): Show | a0001c0001t0000g0000a0004c0004t0000g0000a0005c0005t0000g0000others(5): Show | 212 | 424 | 0.5000 | -1 | c.926 others(4): Show |
p.His others(5): Show |
OR13C5 | ENSG00000277556.1 | transcript | ENST00000374779.3 | protein_coding | 1/1 | 926/957 | 926/957 | 309/318 | chr9 | TogoVar | ||
OR1S1_chr11_58207720_58221084 | 58215722 | A | G | stop_lost | HIGH | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(223): Show |
a0000 | a0000c0001a0000c0006a0000c0010others(1): Show | a0000c0001t0001a0000c0001t0006a0000c0001t0010others(3): Show | a0000c0001t0001g0001a0000c0001t0001g0004a0000c0001t0001g0007others(13): Show | 226 | 460 | 0.4913 | 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 | a0001c0002t0001g0001a0001c0002t0001g0046a0001c0002t0001g0114others(80): Show | 220 | 478 | 0.4603 | -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 | ||
OR2J1_chr6_29094490_29107701 | 29101522 | C | T | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(142): Show |
a0003a0006 | a0003c0002a0003c0006a0006c0008 | a0003c0002t0001a0003c0002t0005a0003c0002t0006others(5): Show | a0003c0002t0001g0001a0003c0002t0001g0006a0003c0002t0005g0001others(6): Show | 145 | 445 | 0.3258 | 0 | c.580 others(3): Show |
p.Gln others(4): Show |
OR2J1 | ENSG00000204702.6 | transcript | ENST00000641659.2 | protein_coding | 2/2 | 1132/2311 | 580/939 | 194/312 | chr6 | TogoVar | ||
OR2T12_chr1_248285139_248308424 | 248294830 | TAA | T | frameshift_variant | HIGH | HG01109.hp2 HG01928.hp2 HG02074.hp1 others(10): Show |
a0005 | a0005c0005 | a0005c0005t0003a0005c0005t0023 | a0005c0005t0003g0005a0005c0005t0003g0053a0005c0005t0003g0055others(1): Show | 13 | 406 | 0.0320 | -2 | c.747 others(9): Show |
p.Phe others(5): Show |
OR2T12 | ENSG00000177201.3 | transcript | ENST00000641276.1 | protein_coding | 3/3 | 1016/5708 | 747/963 | 249/320 | chr1 | TogoVar | ||
OR2T12_chr1_248285139_248308424 | 248295573 | CT | C | frameshift_variant | HIGH | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(97): Show |
a0002 | a0002c0002a0002c0031a0002c0032others(2): Show | a0002c0002t0002a0002c0002t0026a0002c0002t0033others(7): Show | a0002c0002t0002g0002a0002c0002t0002g0004a0002c0002t0002g0011others(17): Show | 100 | 406 | 0.2463 | -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 | ||
OR2T29_chr1_248551912_248567772 | 248559422 | G | A | stop_gained | HIGH | HG00438.hp1 HG00544.hp2 HG00558.hp2 others(93): Show |
a0002a0021 | a0002c0002a0002c0009a0002c0013others(4): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0010others(13): Show | a0002c0002t0002g0002a0002c0002t0002g0005a0002c0002t0002g0008others(21): Show | 96 | 313 | 0.3067 | 0 | c.70C others(2): Show |
p.Gln others(3): Show |
OR2T29 | ENSG00000182783.6 | transcript | ENST00000641069.1 | protein_coding | 2/2 | 127/2637 | 70/948 | 24/315 | chr1 | TogoVar | ||
OR2T35_chr1_248631356_248650278 | 248638301 | T | TCA | frameshift_variant | HIGH | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(298): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(96): Show | 301 | 309 | 0.9741 | 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(4): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(96): Show | 299 | 309 | 0.9676 | -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 |
a0003a0006 | a0003c0003a0003c0009a0006c0007 | a0003c0003t0000a0003c0009t0000a0006c0007t0000 | a0003c0003t0000g0000a0003c0009t0000g0000a0006c0007t0000g0000 | 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 | 248362026 | C | CTA | frameshift_variant | HIGH | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(133): Show |
a0003a0004a0005others(1): Show | a0003c0003a0003c0009a0004c0005others(2): Show | a0003c0003t0000a0003c0009t0000a0004c0005t0000others(2): Show | a0003c0003t0000g0000a0003c0009t0000g0000a0004c0005t0000g0000others(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 | ||
OR4E1_chr14_21662886_21678818 | 21670346 | TG | T | frameshift_variant | HIGH | HG00323.hp1 HG00609.hp2 HG00639.hp2 others(17): Show |
a0004 | a0004c0004a0004c0013 | a0004c0004t0006a0004c0004t0016a0004c0013t0024 | a0004c0004t0006g0006a0004c0004t0016g0017a0004c0013t0024g0029 | 20 | 454 | 0.0441 | -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(152): Show |
a0001a0010a0012 | a0001c0001a0001c0012a0010c0017others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0012others(11): Show | 155 | 454 | 0.3414 | 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 | ||
OR4X1_chr11_48258861_48269778 | 48264679 | T | A | stop_gained | HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(224): Show |
a0002a0003a0004others(4): Show | a0002c0002a0002c0005a0002c0007others(7): Show | a0002c0002t0000a0002c0005t0000a0002c0007t0000others(7): Show | a0002c0002t0000g0000a0002c0005t0000g0000a0002c0007t0000g0000others(7): Show | 227 | 402 | 0.5647 | 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 | ||
OR51A4_chr11_4937831_4952605 | 4946925 | TCATGCAA others(5673): Show |
T | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(135): Show |
a0002a0010a0017 | a0002c0002a0010c0008a0017c0017 | a0002c0002t0001a0002c0002t0008a0002c0002t0022others(8): Show | a0002c0002t0001g0001a0002c0002t0008g0009a0002c0002t0022g0017others(8): Show | 138 | 446 | 0.3094 | -5680 | c.-51 others(9): Show |
OR51A4 | ENSG00000205497.5 | transcript | ENST00000641898.1 | protein_coding | 1/2 | 298/4393 | chr11 | TogoVar | |||||
OR51I1_chr11_5435570_5446514 | 5441472 | G | A | stop_gained | HIGH | HG00423.hp2 HG00438.hp2 HG00544.hp1 others(81): Show |
a0003 | a0003c0003a0003c0007a0003c0018 | a0003c0003t0000a0003c0007t0000a0003c0018t0000 | a0003c0003t0000g0000a0003c0007t0000g0000a0003c0018t0000g0000 | 84 | 472 | 0.1780 | 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(212): Show |
a0002a0003a0006 | a0002c0002a0003c0003a0006c0007 | a0002c0002t0001a0002c0002t0003a0003c0003t0001others(1): Show | a0002c0002t0001g0000a0002c0002t0003g0000a0003c0003t0001g0000others(1): Show | 215 | 454 | 0.4736 | 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 | ||
OR52B4_chr11_4362263_4373386 | 4368174 | AG | A | frameshift_variant | HIGH | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(171): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004 | a0002c0002t0001g0000a0002c0002t0004g0000 | 174 | 466 | 0.3734 | -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 | ||
OR56B2P_chr11_5756153_5774080 | 5763343 | CACTCTTG others(10730): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG00099.hp2 HG00280.hp2 HG00597.hp2 others(56): Show |
a0000 | a0000c0000 | a0000c0000t0002 | a0000c0000t0002g0003a0000c0000t0002g0023 | 59 | 434 | 0.1359 | -10737 | c.2-1 others(12): Show |
OR56B2P | ENSG00000181017.7 | transcript | ENST00000641377.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
OR5M1_chr11_56604236_56619874 | 56613070 | CCAGA | C | frameshift_variant | HIGH | HG00140.hp1 HG00438.hp1 HG00642.hp2 others(62): Show |
a0003 | a0003c0003a0003c0012 | a0003c0003t0002a0003c0003t0021a0003c0012t0002 | a0003c0003t0002g0002a0003c0003t0002g0011a0003c0003t0002g0013others(6): Show | 65 | 386 | 0.1684 | -4 | c.429 others(11): Show |
p.Cys others(5): Show |
OR5M1 | ENSG00000255012.3 | transcript | ENST00000641076.1 | protein_coding | 2/2 | 467/4302 | 429/948 | 143/315 | 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 | a0002c0002t0001g0001a0002c0002t0001g0002a0002c0002t0001g0003others(50): Show | 172 | 474 | 0.3629 | 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 | |
OR6C76_chr12_55421254_55432192 | 55427174 | CA | C | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp2 HG00741.hp2 others(68): Show |
a0000a0002 | a0000c0002a0002c0004 | a0000c0002t0000a0002c0004t0000 | a0000c0002t0000g0000a0002c0004t0000g0000 | 71 | 440 | 0.1614 | -1 | c.933 others(4): Show |
p.Lys others(5): Show |
OR6C76 | ENSG00000185821.3 | transcript | ENST00000328314.3 | protein_coding | 1/1 | 933/939 | 933/939 | 311/312 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
OR7G3_chr19_9121012_9131950 | 9126022 | G | GATGGT | frameshift_variant | HIGH | HG00280.hp2 HG00408.hp1 HG00423.hp2 others(174): Show |
a0000a0002a0003others(1): Show | a0000c0002a0000c0007a0000c0014others(3): Show | a0000c0002t0000a0000c0007t0000a0000c0014t0000others(3): Show | a0000c0002t0000g0000a0000c0007t0000g0000a0000c0014t0000g0000others(3): Show | 177 | 402 | 0.4403 | 5 | c.924 others(12): Show |
p.Ser others(5): Show |
OR7G3 | ENSG00000170920.2 | transcript | ENST00000305444.2 | protein_coding | 1/1 | 928/939 | 928/939 | 310/312 | chr19 | TogoVar | ||
OR8K1_chr11_56341039_56351998 | 56346040 | T | C | start_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(348): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0000a0001c0002t0000a0001c0004t0000others(8): Show | a0001c0001t0000g0000a0001c0002t0000g0000a0001c0004t0000g0000others(8): Show | 351 | 437 | 0.8032 | 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(7598): Show |
stop_gained others(1): Show |
HIGH | NA18948.hp2 NA18953.hp2 NA18982.hp2 others(7): Show |
a0002 | a0002c0006 | a0002c0006t0000 | a0002c0006t0000g0000 | 10 | 364 | 0.0275 | 7605 | c.590 others(7612): Show |
p.Leu others(7618): 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(7597): Show |
frameshift_variant others(1): Show |
HIGH | NA19075.hp2 | a0001 | a0001c0061 | a0001c0061t0000 | a0001c0061t0000g0000 | 1 | 364 | 0.0028 | 7604 | c.492 others(7611): Show |
p.Arg others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 493/930 | 493/930 | 165/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
OTUD5_chrX_48917024_48962607 | 48923897 | TG | T | frameshift_variant | HIGH | NA19075.hp1 | a0005 | a0005c0007 | a0005c0007t0010 | a0005c0007t0010g0201 | 1 | 266 | 0.0038 | -1 | c.141 others(5): Show |
p.Pro others(5): Show |
OTUD5 | ENSG00000068308.15 | transcript | ENST00000376488.8 | protein_coding | 7/9 | 1455/2888 | 1418/1701 | 473/566 | chrX | TogoVar | ||
OTUD6A_chrX_70057457_70069179 | 70062542 | T | TG | frameshift_variant | HIGH | NA19075.hp1 | a0009 | a0009c0014 | a0009c0014t0004 | a0009c0014t0004g0000 | 1 | 336 | 0.0030 | 1 | c.19d others(3): Show |
p.Glu others(3): Show |
OTUD6A | ENSG00000189401.3 | transcript | ENST00000338352.3 | protein_coding | 1/1 | 88/1723 | 20/867 | 7/288 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
OTUD6A_chrX_70057457_70069179 | 70062562 | G | GC | frameshift_variant | HIGH | NA19075.hp1 | a0009 | a0009c0014 | a0009c0014t0004 | a0009c0014t0004g0000 | 1 | 336 | 0.0030 | 1 | c.40d others(3): Show |
p.Arg others(4): Show |
OTUD6A | ENSG00000189401.3 | transcript | ENST00000338352.3 | protein_coding | 1/1 | 109/1723 | 41/867 | 14/288 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
OTUD6A_chrX_70057457_70069179 | 70062587 | G | GC | frameshift_variant | HIGH | NA19075.hp1 | a0009 | a0009c0014 | a0009c0014t0004 | a0009c0014t0004g0000 | 1 | 336 | 0.0030 | 1 | c.64d others(3): Show |
p.Leu others(4): Show |
OTUD6A | ENSG00000189401.3 | transcript | ENST00000338352.3 | protein_coding | 1/1 | 133/1723 | 65/867 | 22/288 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
OTUD6A_chrX_70057457_70069179 | 70062607 | G | GC | frameshift_variant | HIGH | NA19075.hp1 | a0009 | a0009c0014 | a0009c0014t0004 | a0009c0014t0004g0000 | 1 | 336 | 0.0030 | 1 | c.84d others(3): Show |
p.Asn others(4): Show |
OTUD6A | ENSG00000189401.3 | transcript | ENST00000338352.3 | protein_coding | 1/1 | 153/1723 | 85/867 | 29/288 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
OTUD6A_chrX_70057457_70069179 | 70062725 | A | AG | frameshift_variant | HIGH | NA19075.hp1 | a0009 | a0009c0014 | a0009c0014t0004 | a0009c0014t0004g0000 | 1 | 336 | 0.0030 | 1 | c.202 others(4): Show |
p.Asp others(4): Show |
OTUD6A | ENSG00000189401.3 | transcript | ENST00000338352.3 | protein_coding | 1/1 | 271/1723 | 203/867 | 68/288 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
OTUD6A_chrX_70057457_70069179 | 70062775 | T | TG | frameshift_variant | HIGH | NA19075.hp1 | a0009 | a0009c0014 | a0009c0014t0004 | a0009c0014t0004g0000 | 1 | 336 | 0.0030 | 1 | c.253 others(4): Show |
p.Glu others(4): Show |
OTUD6A | ENSG00000189401.3 | transcript | ENST00000338352.3 | protein_coding | 1/1 | 322/1723 | 254/867 | 85/288 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
OTUD6A_chrX_70057457_70069179 | 70062800 | CA | C | frameshift_variant | HIGH | NA19075.hp1 | a0009 | a0009c0014 | a0009c0014t0004 | a0009c0014t0004g0000 | 1 | 336 | 0.0030 | -1 | c.279 others(4): Show |
p.Ala others(4): Show |
OTUD6A | ENSG00000189401.3 | transcript | ENST00000338352.3 | protein_coding | 1/1 | 347/1723 | 279/867 | 93/288 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
OTUD6A_chrX_70057457_70069179 | 70062953 | GA | G | frameshift_variant | HIGH | NA19075.hp1 | a0009 | a0009c0014 | a0009c0014t0004 | a0009c0014t0004g0000 | 1 | 336 | 0.0030 | -1 | c.432 others(4): Show |
p.Ala others(5): Show |
OTUD6A | ENSG00000189401.3 | transcript | ENST00000338352.3 | protein_coding | 1/1 | 500/1723 | 432/867 | 144/288 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
OTUD6A_chrX_70057457_70069179 | 70062966 | GC | G | frameshift_variant | HIGH | NA19075.hp1 NA19089.hp1 |
a0008a0009 | a0008c0006a0009c0014 | a0008c0006t0013a0009c0014t0004 | a0008c0006t0013g0000a0009c0014t0004g0000 | 2 | 336 | 0.0060 | -1 | c.444 others(4): Show |
p.Asp others(5): Show |
OTUD6A | ENSG00000189401.3 | transcript | ENST00000338352.3 | protein_coding | 1/1 | 512/1723 | 444/867 | 148/288 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
OTUD6A_chrX_70057457_70069179 | 70062978 | T | TC | frameshift_variant | HIGH | NA19075.hp1 | a0009 | a0009c0014 | a0009c0014t0004 | a0009c0014t0004g0000 | 1 | 336 | 0.0030 | 1 | c.454 others(8): Show |
p.Cys others(5): Show |
OTUD6A | ENSG00000189401.3 | transcript | ENST00000338352.3 | protein_coding | 1/1 | 523/1723 | 455/867 | 152/288 | chrX | TogoVar | ||
OTUD6A_chrX_70057457_70069179 | 70063043 | C | CA | frameshift_variant | HIGH | NA19075.hp1 | a0009 | a0009c0014 | a0009c0014t0004 | a0009c0014t0004g0000 | 1 | 336 | 0.0030 | 1 | c.520 others(4): Show |
p.Thr others(5): Show |
OTUD6A | ENSG00000189401.3 | transcript | ENST00000338352.3 | protein_coding | 1/1 | 589/1723 | 521/867 | 174/288 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
OTUD6A_chrX_70057457_70069179 | 70063182 | CT | C | frameshift_variant | HIGH | NA19075.hp1 | a0009 | a0009c0014 | a0009c0014t0004 | a0009c0014t0004g0000 | 1 | 336 | 0.0030 | -1 | c.659 others(4): Show |
p.Leu others(5): Show |
OTUD6A | ENSG00000189401.3 | transcript | ENST00000338352.3 | protein_coding | 1/1 | 727/1723 | 659/867 | 220/288 | chrX | TogoVar | ||
OTUD6A_chrX_70057457_70069179 | 70063194 | GC | G | frameshift_variant | HIGH | NA19075.hp1 | a0009 | a0009c0014 | a0009c0014t0004 | a0009c0014t0004g0000 | 1 | 336 | 0.0030 | -1 | c.673 others(4): Show |
p.Leu others(5): Show |
OTUD6A | ENSG00000189401.3 | transcript | ENST00000338352.3 | protein_coding | 1/1 | 741/1723 | 673/867 | 225/288 | INFO_REALIGN_3_PRIME | chrX | TogoVar |