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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MED12_chrX_71113596_71147450 | 71133203 | G | GC | frameshift_variant | HIGH | NA19059.hp2 | a0004 | a0004c0023 | a0004c0023t0001 | a0004c0023t0001g0047 | 1 | 273 | 0.0037 | 1 | c.460 others(5): Show |
p.Leu others(6): Show |
MED12 | ENSG00000184634.17 | transcript | ENST00000374080.8 | protein_coding | 33/45 | 4769/6925 | 4610/6534 | 1537/2177 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MED12_chrX_71113596_71147450 | 71134466 | A | AG | splice_donor_variant others(1): Show |
HIGH | NA19059.hp2 | a0004 | a0004c0023 | a0004c0023t0001 | a0004c0023t0001g0047 | 1 | 273 | 0.0037 | 1 | c.472 others(7): Show |
MED12 | ENSG00000184634.17 | transcript | ENST00000374080.8 | protein_coding | 34/44 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
MED12_chrX_71113596_71147450 | 71134764 | AT | A | frameshift_variant | HIGH | NA19059.hp2 | a0004 | a0004c0023 | a0004c0023t0001 | a0004c0023t0001g0047 | 1 | 273 | 0.0037 | -1 | c.478 others(5): Show |
p.Leu others(6): Show |
MED12 | ENSG00000184634.17 | transcript | ENST00000374080.8 | protein_coding | 35/45 | 4940/6925 | 4781/6534 | 1594/2177 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MED12_chrX_71113596_71147450 | 71136624 | A | AG | frameshift_variant | HIGH | NA19059.hp2 | a0004 | a0004c0023 | a0004c0023t0001 | a0004c0023t0001g0047 | 1 | 273 | 0.0037 | 1 | c.537 others(5): Show |
p.Lys others(6): Show |
MED12 | ENSG00000184634.17 | transcript | ENST00000374080.8 | protein_coding | 37/45 | 5530/6925 | 5371/6534 | 1791/2177 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MED12_chrX_71113596_71147450 | 71136633 | G | GC | frameshift_variant | HIGH | NA19059.hp2 | a0004 | a0004c0023 | a0004c0023t0001 | a0004c0023t0001g0047 | 1 | 273 | 0.0037 | 1 | c.538 others(5): Show |
p.Gln others(6): Show |
MED12 | ENSG00000184634.17 | transcript | ENST00000374080.8 | protein_coding | 37/45 | 5540/6925 | 5381/6534 | 1794/2177 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MED12_chrX_71113596_71147450 | 71136905 | C | CG | frameshift_variant | HIGH | NA19059.hp2 | a0004 | a0004c0023 | a0004c0023t0001 | a0004c0023t0001g0047 | 1 | 273 | 0.0037 | 1 | c.542 others(5): Show |
p.Tyr others(6): Show |
MED12 | ENSG00000184634.17 | transcript | ENST00000374080.8 | protein_coding | 38/45 | 5589/6925 | 5430/6534 | 1810/2177 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MED12_chrX_71113596_71147450 | 71137269 | GC | G | frameshift_variant | HIGH | NA19059.hp2 | a0004 | a0004c0023 | a0004c0023t0001 | a0004c0023t0001g0047 | 1 | 273 | 0.0037 | -1 | c.563 others(5): Show |
p.Thr others(6): Show |
MED12 | ENSG00000184634.17 | transcript | ENST00000374080.8 | protein_coding | 39/45 | 5796/6925 | 5637/6534 | 1879/2177 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MED12_chrX_71113596_71147450 | 71137314 | TA | T | frameshift_variant | HIGH | NA19059.hp2 | a0004 | a0004c0023 | a0004c0023t0001 | a0004c0023t0001g0047 | 1 | 273 | 0.0037 | -1 | c.568 others(5): Show |
p.Lys others(6): Show |
MED12 | ENSG00000184634.17 | transcript | ENST00000374080.8 | protein_coding | 39/45 | 5840/6925 | 5681/6534 | 1894/2177 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MED12_chrX_71113596_71147450 | 71137323 | T | TG | frameshift_variant | HIGH | NA19059.hp2 | a0004 | a0004c0023 | a0004c0023t0001 | a0004c0023t0001g0047 | 1 | 273 | 0.0037 | 1 | c.568 others(5): Show |
p.Val others(6): Show |
MED12 | ENSG00000184634.17 | transcript | ENST00000374080.8 | protein_coding | 39/45 | 5849/6925 | 5690/6534 | 1897/2177 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MED12_chrX_71113596_71147450 | 71137350 | GC | G | frameshift_variant | HIGH | NA19059.hp2 | a0004 | a0004c0023 | a0004c0023t0001 | a0004c0023t0001g0047 | 1 | 273 | 0.0037 | -1 | c.571 others(5): Show |
p.Gln others(6): Show |
MED12 | ENSG00000184634.17 | transcript | ENST00000374080.8 | protein_coding | 39/45 | 5878/6925 | 5719/6534 | 1907/2177 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MED12_chrX_71113596_71147450 | 71137906 | G | GC | frameshift_variant | HIGH | NA19059.hp1 | a0007 | a0007c0018 | a0007c0018t0001 | a0007c0018t0001g0150 | 1 | 273 | 0.0037 | 1 | c.601 others(5): Show |
p.Thr others(6): Show |
MED12 | ENSG00000184634.17 | transcript | ENST00000374080.8 | protein_coding | 41/45 | 6172/6925 | 6013/6534 | 2005/2177 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MICA_chr6_31398595_31420315 | 31412383 | TG | T | frameshift_variant | HIGH | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(100): Show |
a0000 | a0000c0005a0000c0006a0000c0010others(5): Show | a0000c0005t0001a0000c0006t0001a0000c0010t0001others(5): Show | a0000c0005t0001g0005a0000c0005t0001g0018a0000c0005t0001g0021others(28): Show | 103 | 439 | 0.2346 | -1 | c.953 others(4): Show |
p.Gly others(5): Show |
MICA | ENSG00000204520.14 | transcript | ENST00000449934.7 | protein_coding | 5/6 | 991/1370 | 953/999 | 318/332 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
MICA_chr6_31398595_31420315 | 31412384 | G | GCT | frameshift_variant | HIGH | HG00423.hp1 HG00438.hp1 HG00621.hp1 others(110): Show |
a0000 | a0000c0002a0000c0004a0000c0014others(2): Show | a0000c0002t0001a0000c0002t0006a0000c0004t0001others(4): Show | a0000c0002t0001g0001a0000c0002t0001g0012a0000c0002t0001g0020others(34): Show | 113 | 439 | 0.2574 | 2 | c.952 others(9): Show |
p.Gly others(5): Show |
MICA | ENSG00000204520.14 | transcript | ENST00000449934.7 | protein_coding | 5/6 | 991/1370 | 953/999 | 318/332 | chr6 | TogoVar | ||
MPP1_chrX_154773684_154810485 | 154805338 | G | GC | frameshift_variant | HIGH | NA19059.hp1 | a0003 | a0003c0006 | a0003c0006t0003 | a0003c0006t0003g0036 | 1 | 265 | 0.0038 | 1 | c.35d others(3): Show |
p.Ser others(4): Show |
MPP1 | ENSG00000130830.15 | transcript | ENST00000369534.8 | protein_coding | 1/12 | 147/2006 | 35/1401 | 12/466 | chrX | TogoVar | ||
MS4A14_chr11_60391459_60422756 | 60397879 | ATT | A | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(249): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(87): Show | 252 | 428 | 0.5888 | -2 | c.167 others(9): Show |
p.Ile others(4): Show |
MS4A14 | ENSG00000166928.11 | transcript | ENST00000300187.11 | protein_coding | 2/5 | 287/2908 | 167/2040 | 56/679 | chr11 | TogoVar | ||
MYH8_chr17_10385322_10426950 | 10398875 | G | A | stop_gained | HIGH | NA19059.hp1 | a0021 | a0021c0034 | a0021c0034t0001 | a0021c0034t0001g0182 | 1 | 324 | 0.0031 | 0 | c.387 others(4): Show |
p.Arg others(5): Show |
MYH8 | ENSG00000133020.4 | transcript | ENST00000403437.2 | protein_coding | 29/40 | 3969/6041 | 3874/5814 | 1292/1937 | chr17 | TogoVar | ||
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 | ||||||
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 | ||
OR11G2_chr14_20185896_20206075 | 20198016 | C | CA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0015a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(59): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0008others(101): Show | 275 | 482 | 0.5705 | 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 | |
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 | ||
OR14C36_chr1_248343775_248354713 | 248349637 | AC | A | frameshift_variant | HIGH | HG00673.hp1 HG02155.hp2 HG02165.hp2 others(10): Show |
a0004 | a0004c0004 | a0004c0004t0000 | a0004c0004t0000g0000 | 13 | 448 | 0.0290 | -1 | c.864 others(4): Show |
p.Tyr others(5): Show |
OR14C36 | ENSG00000177174.1 | transcript | ENST00000317861.1 | protein_coding | 1/1 | 864/939 | 864/939 | 288/312 | chr1 | TogoVar | ||
OR1B1_chr9_122623125_122662627 | 122628962 | G | A | stop_gained | HIGH | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(158): Show |
a0002a0003a0006 | a0002c0002a0002c0016a0002c0017others(2): Show | a0002c0002t0002a0002c0002t0012a0002c0016t0002others(3): Show | a0002c0002t0002g0001a0002c0002t0002g0007a0002c0002t0002g0021others(81): Show | 161 | 420 | 0.3833 | 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 | ||
OR1B1_chr9_122623125_122662627 | 122629491 | C | CA | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(155): Show |
a0001a0008 | a0001c0001a0001c0005a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(8): Show | a0001c0001t0001g0010a0001c0001t0001g0014a0001c0001t0001g0023others(98): Show | 158 | 420 | 0.3762 | 1 | c.41d others(3): Show |
p.Leu others(4): Show |
OR1B1 | ENSG00000280094.3 | transcript | ENST00000623530.2 | protein_coding | 2/2 | 574/1941 | 41/954 | 14/317 | chr9 | 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 | ||
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 | |||||
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 | a0004c0006t0001g0000a0004c0017t0001g0000a0004c0018t0001g0000others(1): Show | 48 | 470 | 0.1021 | 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(166): Show |
a0000 | a0000c0002a0000c0003a0000c0006others(2): Show | a0000c0002t0000a0000c0003t0000a0000c0006t0000others(2): Show | a0000c0002t0000g0000a0000c0003t0000g0000a0000c0006t0000g0000others(2): Show | 169 | 436 | 0.3876 | 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 | ||
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 | |
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 | ||
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 | a0001c0001t0000a0001c0013t0000 | a0001c0001t0000g0000a0001c0013t0000g0000 | 130 | 364 | 0.3571 | 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 | |
PAGE5_chrX_55215346_55229108 | 55220451 | CG | C | splice_donor_variant others(1): Show |
HIGH | NA19059.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0021 | 1 | 299 | 0.0033 | -1 | c.-9+ others(5): Show |
PAGE5 | ENSG00000158639.13 | transcript | ENST00000374955.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHF7_chr3_52405660_52428641 | 52423087 | C | CCA | splice_acceptor_variant others(1): Show |
HIGH | HG02523.hp2 HG04204.hp2 NA19058.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0012a0001c0003t0002g0039 | 6 | 362 | 0.0166 | 2 | c.920 others(13): Show |
PHF7 | ENSG00000010318.22 | transcript | ENST00000327906.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PIGB_chr15_55314222_55360648 | 55355381 | T | A | stop_gained | HIGH | NA19059.hp1 | a0009 | a0009c0015 | a0009c0015t0001 | a0009c0015t0001g0190 | 1 | 376 | 0.0027 | 0 | c.161 others(4): Show |
p.Tyr others(4): Show |
PIGB | ENSG00000069943.10 | transcript | ENST00000164305.10 | protein_coding | 12/12 | 1643/1910 | 1614/1665 | 538/554 | chr15 | TogoVar | ||
PIK3R1_chr5_68210756_68306821 | 68273462 | TGGAAGCC others(7): Show |
T | frameshift_variant | HIGH | NA19059.hp1 | a0004 | a0004c0014 | a0004c0014t0025 | a0004c0014t0025g0101 | 1 | 308 | 0.0033 | -14 | c.408 others(21): Show |
p.Ala others(5): Show |
PIK3R1 | ENSG00000145675.16 | transcript | ENST00000521381.6 | protein_coding | 3/16 | 988/6975 | 408/2175 | 136/724 | chr5 | TogoVar | ||
PIN4_chrX_72176757_72203340 | 72186497 | AG | A | frameshift_variant | HIGH | NA19059.hp1 | a0004 | a0004c0005 | a0004c0005t0004 | a0004c0005t0004g0034 | 1 | 307 | 0.0033 | -1 | c.82d others(3): Show |
p.Ala others(4): Show |
PIN4 | ENSG00000102309.15 | transcript | ENST00000373669.8 | protein_coding | 2/4 | 111/1239 | 82/396 | 28/131 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PSORS1C1_chr6_31109800_31145092 | 31138723 | T | TC | frameshift_variant | HIGH | HG00423.hp1 HG00733.hp2 HG00735.hp1 others(54): Show |
a0004a0006 | a0004c0005a0006c0006a0006c0013 | a0004c0005t0001a0004c0005t0003a0004c0005t0005others(4): Show | a0004c0005t0001g0090a0004c0005t0001g0195a0004c0005t0001g0205others(25): Show | 57 | 449 | 0.1270 | 1 | c.118 others(4): Show |
p.His others(4): Show |
PSORS1C1 | ENSG00000204540.11 | transcript | ENST00000259881.10 | protein_coding | 5/6 | 439/939 | 119/459 | 40/152 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
PTEN_chr10_87858625_87976930 | 87960876 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(84): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(27): Show | a0001c0001t0002g0009a0001c0001t0002g0144a0001c0001t0002g0211others(84): Show | 87 | 322 | 0.2702 | 1 | c.802 others(6): Show |
PTEN | ENSG00000171862.15 | transcript | ENST00000371953.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PVRIG_chr7_100214949_100226490 | 100221192 | A | ACT | frameshift_variant | HIGH | HG00323.hp1 HG01928.hp1 HG01943.hp2 others(13): Show |
a0003a0010 | a0003c0003a0010c0008 | a0003c0003t0002a0010c0008t0002 | a0003c0003t0002g0002a0010c0008t0002g0002 | 16 | 394 | 0.0406 | 2 | c.865 others(9): Show |
p.Pro others(5): Show |
PVRIG | ENSG00000213413.3 | transcript | ENST00000699088.1 | protein_coding | 5/5 | 889/1182 | 867/921 | 289/306 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
RAB33A_chrX_130166962_130189870 | 130184294 | TG | T | frameshift_variant | HIGH | NA19059.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0057 | 1 | 316 | 0.0032 | -1 | c.271 others(4): Show |
p.Asp others(4): Show |
RAB33A | ENSG00000134594.5 | transcript | ENST00000257017.5 | protein_coding | 2/2 | 372/945 | 271/714 | 91/237 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
RAB9B_chrX_103817327_103837257 | 103832058 | AC | A | splice_donor_variant others(1): Show |
HIGH | NA19059.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0019 | 1 | 331 | 0.0030 | -1 | c.-11 others(7): Show |
RAB9B | ENSG00000123570.4 | transcript | ENST00000243298.3 | protein_coding | 1/2 | chrX | TogoVar | ||||||
RABL2B_chr22_50762506_50788636 | 50769106 | G | A | stop_gained | HIGH | NA18974.hp2 NA19059.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0058 | 2 | 476 | 0.0042 | 0 | c.526 others(3): Show |
p.Arg others(4): Show |
RABL2B | ENSG00000079974.19 | transcript | ENST00000691320.1 | protein_coding | 8/9 | 715/2149 | 526/690 | 176/229 | chr22 | TogoVar | ||
RHOXF2B_chrX_120067264_120082690 | 120072647 | TG | T | frameshift_variant | HIGH | NA18963.hp1 NA19059.hp2 |
a0000 | a0000c0009a0000c0014 | a0000c0009t0001a0000c0014t0004 | a0000c0009t0001g0063a0000c0014t0004g0023 | 2 | 213 | 0.0094 | -1 | c.735 others(4): Show |
p.Met others(5): Show |
RHOXF2B | ENSG00000203989.5 | transcript | ENST00000371402.5 | protein_coding | 4/4 | 873/1257 | 735/867 | 245/288 | chrX | TogoVar | ||
RNPEP_chr1_201977648_202011143 | 202001693 | T | G | stop_gained | HIGH | NA19059.hp2 | a0007 | a0007c0016 | a0007c0016t0002 | a0007c0016t0002g0239 | 1 | 454 | 0.0022 | 0 | c.135 others(4): Show |
p.Leu others(4): Show |
RNPEP | ENSG00000176393.11 | transcript | ENST00000295640.9 | protein_coding | 8/11 | 1371/2399 | 1352/1953 | 451/650 | chr1 | TogoVar |