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 | ||||||
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 | ||
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 | ||
OR1R1P_chr17_3380930_3391874 | 3385989 | A | AACAG | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(198): Show |
a0001 | a0001c0001a0001c0010a0001c0011others(3): Show | a0001c0001t0000a0001c0010t0000a0001c0011t0000others(3): Show | a0001c0001t0000g0000a0001c0010t0000g0000a0001c0011t0000g0000others(3): Show | 201 | 416 | 0.4832 | 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 | |
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 | ||
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 | a0001c0001t0000a0001c0002t0000a0001c0006t0000others(4): Show | a0001c0001t0000g0000a0001c0002t0000g0000a0001c0006t0000g0000others(4): Show | 276 | 379 | 0.7282 | 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 | ||
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 | 248362336 | CA | C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(155): Show |
a0001a0010 | a0001c0001a0001c0011a0001c0014others(1): Show | a0001c0001t0000a0001c0011t0000a0001c0014t0000others(1): Show | a0001c0001t0000g0000a0001c0011t0000g0000a0001c0014t0000g0000others(1): Show | 158 | 428 | 0.3692 | -1 | c.673 others(4): Show |
p.Ile others(5): Show |
OR2T4 | ENSG00000196944.5 | transcript | ENST00000366473.4 | protein_coding | 1/1 | 673/963 | 673/963 | 225/320 | chr1 | TogoVar | ||
OR4C16_chr11_55567128_55578060 | 55572176 | C | T | stop_gained | HIGH | HG00323.hp2 HG00408.hp1 HG00423.hp2 others(113): Show |
a0002 | a0002c0002a0002c0009a0002c0021others(2): Show | a0002c0002t0000a0002c0009t0000a0002c0021t0000others(2): Show | a0002c0002t0000g0000a0002c0009t0000g0000a0002c0021t0000g0000others(2): Show | 116 | 440 | 0.2636 | 0 | c.49C others(2): Show |
p.Gln others(3): Show |
OR4C16 | ENSG00000279514.2 | transcript | ENST00000623907.1 | protein_coding | 1/1 | 49/933 | 49/933 | 17/310 | chr11 | 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 | ||
OR4L1_chr14_20055045_20065983 | 20060289 | TCATAGAT others(12): Show |
T | frameshift_variant | HIGH | HG00099.hp1 HG00323.hp2 HG00438.hp2 others(235): Show |
a0001a0003a0005others(1): Show | a0001c0002a0001c0005a0001c0008others(10): Show | a0001c0002t0000a0001c0005t0000a0001c0008t0000others(10): Show | a0001c0002t0000g0000a0001c0005t0000g0000a0001c0008t0000g0000others(10): Show | 238 | 440 | 0.5409 | -19 | c.248 others(26): Show |
p.Ile others(4): Show |
OR4L1 | ENSG00000176246.1 | transcript | ENST00000315683.1 | protein_coding | 1/1 | 248/939 | 248/939 | 83/312 | INFO_REALIGN_3_PRIME | 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 | ||
OR4X2_chr11_48240104_48251015 | 48245184 | C | G | stop_gained | HIGH | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(76): Show |
a0002a0006 | a0002c0002a0006c0009 | a0002c0002t0000a0006c0009t0000 | a0002c0002t0000g0000a0006c0009t0000g0000 | 79 | 438 | 0.1804 | 0 | c.81C others(2): Show |
p.Tyr others(3): Show |
OR4X2 | ENSG00000172208.7 | transcript | ENST00000624868.2 | protein_coding | 1/1 | 81/912 | 81/912 | 27/303 | 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 | ||
OR5AR1_chr11_56658686_56669618 | 56663740 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(300): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0000a0001c0003t0000a0001c0005t0000others(2): Show | a0001c0001t0000g0000a0001c0003t0000g0000a0001c0005t0000g0000others(2): Show | 303 | 432 | 0.7014 | 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 | 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 | |
OR6C74_chr12_55239609_55261625 | 55247471 | C | T | stop_gained | HIGH | HG00099.hp1 HG00558.hp2 HG00597.hp1 others(72): Show |
a0002a0005 | a0002c0002a0002c0003a0002c0005others(2): Show | a0002c0002t0006a0002c0002t0009a0002c0002t0013others(14): Show | a0002c0002t0006g0004a0002c0002t0009g0005a0002c0002t0013g0007others(14): Show | 75 | 340 | 0.2206 | 0 | c.184 others(3): Show |
p.Arg others(3): Show |
OR6C74 | ENSG00000197706.5 | transcript | ENST00000343399.5 | protein_coding | 2/2 | 402/9556 | 184/939 | 62/312 | chr12 | 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 | ||
OSBPL10_chr3_31655825_31986262 | 31981141 | A | AC | frameshift_variant | HIGH | HG01175.hp1 HG01175.hp2 HG01255.hp2 others(14): Show |
a0003 | a0003c0008a0003c0011a0003c0013others(8): Show | a0003c0008t0001a0003c0008t0002a0003c0011t0004others(11): Show | a0003c0008t0001g0001a0003c0008t0001g0006a0003c0008t0002g0005others(14): Show | 17 | 186 | 0.0914 | 1 | c.38d others(3): Show |
p.Ser others(4): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 1/12 | 121/3625 | 38/2295 | 13/764 | chr3 | TogoVar | ||
OSTM1_chr6_108036409_108079741 | 108074299 | A | AG | frameshift_variant | HIGH | HG01175.hp1 HG01175.hp2 HG01517.hp2 others(7): Show |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0004a0003c0004t0005others(2): Show | a0003c0004t0001g0049a0003c0004t0001g0050a0003c0004t0001g0051others(7): Show | 10 | 388 | 0.0258 | 1 | c.352 others(4): Show |
p.Leu others(5): Show |
OSTM1 | ENSG00000081087.16 | transcript | ENST00000193322.8 | protein_coding | 1/6 | 442/4471 | 352/1005 | 118/334 | chr6 | TogoVar | ||
PAK3_chrX_111091191_111232361 | 111162945 | GC | G | frameshift_variant | HIGH | NA19086.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0117 | 1 | 195 | 0.0051 | -1 | c.503 others(4): Show |
p.Pro others(5): Show |
PAK3 | ENSG00000077264.17 | transcript | ENST00000372007.10 | protein_coding | 9/18 | 1080/9126 | 503/1635 | 168/544 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PAK3_chrX_111091191_111232361 | 111162996 | GA | G | frameshift_variant | HIGH | NA19086.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0117 | 1 | 195 | 0.0051 | -1 | c.554 others(4): Show |
p.Asn others(5): Show |
PAK3 | ENSG00000077264.17 | transcript | ENST00000372007.10 | protein_coding | 9/18 | 1131/9126 | 554/1635 | 185/544 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PAK3_chrX_111091191_111232361 | 111163039 | C | CA | frameshift_variant others(1): Show |
HIGH | NA19086.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0117 | 1 | 195 | 0.0051 | 1 | c.597 others(4): Show |
p.Ser others(5): Show |
PAK3 | ENSG00000077264.17 | transcript | ENST00000372007.10 | protein_coding | 9/18 | 1175/9126 | 598/1635 | 200/544 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PAK3_chrX_111091191_111232361 | 111163637 | G | GA | frameshift_variant | HIGH | NA19086.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0117 | 1 | 195 | 0.0051 | 1 | c.680 others(4): Show |
p.Asn others(5): Show |
PAK3 | ENSG00000077264.17 | transcript | ENST00000372007.10 | protein_coding | 10/18 | 1258/9126 | 681/1635 | 227/544 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PAK3_chrX_111091191_111232361 | 111163683 | GA | G | frameshift_variant | HIGH | NA19086.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0117 | 1 | 195 | 0.0051 | -1 | c.729 others(4): Show |
p.Lys others(5): Show |
PAK3 | ENSG00000077264.17 | transcript | ENST00000372007.10 | protein_coding | 10/18 | 1306/9126 | 729/1635 | 243/544 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PATZ1_chr22_31320804_31351346 | 31345102 | A | AG | frameshift_variant | HIGH | HG01261.hp2 HG02080.hp1 HG02738.hp2 others(9): Show |
a0003a0004 | a0003c0004a0003c0005a0004c0008 | a0003c0004t0002a0003c0005t0003a0003c0005t0004others(3): Show | a0003c0004t0002g0021a0003c0004t0002g0059a0003c0004t0002g0060others(7): Show | 12 | 386 | 0.0311 | 1 | c.500 others(4): Show |
p.Ala others(5): Show |
PATZ1 | ENSG00000100105.18 | transcript | ENST00000266269.10 | protein_coding | 1/5 | 1244/3895 | 500/2064 | 167/687 | chr22 | TogoVar | ||
PBOV1_chr6_138210986_138223491 | 138218046 | A | AG | frameshift_variant | HIGH | HG00140.hp2 HG00408.hp1 HG00558.hp2 others(87): Show |
a0000 | a0000c0002a0000c0004 | a0000c0002t0002a0000c0002t0005a0000c0002t0009others(3): Show | a0000c0002t0002g0000a0000c0002t0005g0000a0000c0002t0009g0000others(3): Show | 90 | 384 | 0.2344 | 1 | c.349 others(4): Show |
p.Leu others(5): Show |
PBOV1 | ENSG00000254440.3 | transcript | ENST00000527246.3 | protein_coding | 1/1 | 445/2506 | 349/408 | 117/135 | chr6 | TogoVar | ||
PCDHB8_chr5_141172790_141185539 | 141179831 | G | GAACGCCT others(5196): Show |
frameshift_variant others(1): Show |
HIGH | NA19086.hp1 | a0019 | a0019c0039 | a0019c0039t0001 | a0019c0039t0001g0000 | 1 | 414 | 0.0024 | 5203 | c.184 others(5212): Show |
p.Cys others(5): Show |
PCDHB8 | ENSG00000120322.5 | transcript | ENST00000239444.4 | protein_coding | 1/1 | 2090/2750 | 1845/2406 | 615/801 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
PHF8_chrX_53931680_54049473 | 54042676 | C | CG | frameshift_variant | HIGH | NA19086.hp1 | a0003 | a0003c0003 | a0003c0003t0011 | a0003c0003t0011g0164 | 1 | 186 | 0.0054 | 1 | c.52d others(3): Show |
p.Arg others(4): Show |
PHF8 | ENSG00000172943.21 | transcript | ENST00000338154.11 | protein_coding | 2/22 | 856/6357 | 52/3075 | 18/1024 | chrX | TogoVar | ||
PITRM1_chr10_3132728_3177782 | 3166375 | T | TGCACGCT others(18): Show |
frameshift_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(277): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0001c0005others(43): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0002others(44): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(208): Show | 280 | 446 | 0.6278 | 25 | c.271 others(32): Show |
p.Gln others(4): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 4/27 | 281/3427 | 271/3114 | 91/1037 | chr10 | TogoVar | ||
PLK4_chr4_127875893_127904224 | 127891075 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00423.hp1 HG00438.hp2 HG00544.hp1 others(76): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0003t0001others(4): Show | a0001c0001t0001g0086a0001c0001t0001g0096a0001c0001t0001g0111others(43): Show | 79 | 364 | 0.2170 | 1 | c.183 others(7): Show |
PLK4 | ENSG00000142731.11 | transcript | ENST00000270861.10 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PLK5_chr19_1519077_1541046 | 1534043 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(207): Show |
a0001a0006a0007others(2): Show | a0001c0001a0001c0016a0001c0020others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(32): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(160): Show | 210 | 430 | 0.4884 | 0 | c.825 others(5): Show |
PLK5 | ENSG00000185988.15 | transcript | ENST00000454744.7 | protein_coding | 13/13 | chr19 | TogoVar | ||||||
PLXNA3_chrX_154453281_154482779 | 154460301 | CG | C | frameshift_variant | HIGH | NA19086.hp1 | a0006 | a0006c0044 | a0006c0044t0086 | a0006c0044t0086g0001 | 1 | 262 | 0.0038 | -1 | c.121 others(4): Show |
p.Val others(4): Show |
PLXNA3 | ENSG00000130827.6 | transcript | ENST00000369682.4 | protein_coding | 2/33 | 296/10885 | 121/5616 | 41/1871 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PLXNB3_chrX_153759249_153784341 | 153766908 | C | CA | frameshift_variant | HIGH | NA19086.hp1 | a0031 | a0031c0021 | a0031c0021t0001 | a0031c0021t0001g0084 | 1 | 308 | 0.0033 | 1 | c.81_ others(6): Show |
p.Cys others(4): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 3/36 | 203/6153 | 82/5730 | 28/1909 | chrX | TogoVar | ||
PLXNB3_chrX_153759249_153784341 | 153767007 | AC | A | frameshift_variant | HIGH | NA19086.hp1 | a0031 | a0031c0021 | a0031c0021t0001 | a0031c0021t0001g0084 | 1 | 308 | 0.0033 | -1 | c.182 others(4): Show |
p.Pro others(4): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 3/36 | 303/6153 | 182/5730 | 61/1909 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PLXNB3_chrX_153759249_153784341 | 153767297 | AC | A | frameshift_variant | HIGH | NA19086.hp1 | a0031 | a0031c0021 | a0031c0021t0001 | a0031c0021t0001g0084 | 1 | 308 | 0.0033 | -1 | c.473 others(4): Show |
p.Pro others(5): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 3/36 | 594/6153 | 473/5730 | 158/1909 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PLXNB3_chrX_153759249_153784341 | 153767348 | T | TG | frameshift_variant | HIGH | NA19086.hp1 | a0031 | a0031c0021 | a0031c0021t0001 | a0031c0021t0001g0084 | 1 | 308 | 0.0033 | 1 | c.525 others(4): Show |
p.Leu others(5): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 3/36 | 647/6153 | 526/5730 | 176/1909 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PLXNB3_chrX_153759249_153784341 | 153768285 | A | AC | frameshift_variant | HIGH | NA19086.hp1 | a0031 | a0031c0021 | a0031c0021t0001 | a0031c0021t0001g0084 | 1 | 308 | 0.0033 | 1 | c.112 others(5): Show |
p.Ser others(5): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 4/36 | 1250/6153 | 1129/5730 | 377/1909 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PLXNB3_chrX_153759249_153784341 | 153768361 | TG | T | frameshift_variant | HIGH | NA19086.hp1 | a0031 | a0031c0021 | a0031c0021t0001 | a0031c0021t0001g0084 | 1 | 308 | 0.0033 | -1 | c.120 others(5): Show |
p.Ala others(5): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 4/36 | 1322/6153 | 1201/5730 | 401/1909 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PLXNB3_chrX_153759249_153784341 | 153770569 | GC | G | frameshift_variant | HIGH | NA19086.hp1 | a0031 | a0031c0021 | a0031c0021t0001 | a0031c0021t0001g0084 | 1 | 308 | 0.0033 | -1 | c.194 others(5): Show |
p.Pro others(5): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 10/36 | 2061/6153 | 1940/5730 | 647/1909 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PLXNB3_chrX_153759249_153784341 | 153771525 | GC | G | frameshift_variant | HIGH | NA19086.hp1 | a0031 | a0031c0021 | a0031c0021t0001 | a0031c0021t0001g0084 | 1 | 308 | 0.0033 | -1 | c.238 others(5): Show |
p.His others(5): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 14/36 | 2510/6153 | 2389/5730 | 797/1909 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PLXNB3_chrX_153759249_153784341 | 153771946 | T | TG | frameshift_variant | HIGH | NA19086.hp1 | a0031 | a0031c0021 | a0031c0021t0001 | a0031c0021t0001g0084 | 1 | 308 | 0.0033 | 1 | c.260 others(5): Show |
p.Gln others(5): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 15/36 | 2723/6153 | 2602/5730 | 868/1909 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PLXNB3_chrX_153759249_153784341 | 153772278 | C | CA | frameshift_variant | HIGH | NA19086.hp1 | a0031 | a0031c0021 | a0031c0021t0001 | a0031c0021t0001g0084 | 1 | 308 | 0.0033 | 1 | c.276 others(5): Show |
p.Thr others(5): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 16/36 | 2889/6153 | 2768/5730 | 923/1909 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PLXNB3_chrX_153759249_153784341 | 153773241 | T | TG | frameshift_variant | HIGH | NA19086.hp1 | a0031 | a0031c0021 | a0031c0021t0001 | a0031c0021t0001g0084 | 1 | 308 | 0.0033 | 1 | c.291 others(5): Show |
p.Cys others(5): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 18/36 | 3041/6153 | 2920/5730 | 974/1909 | INFO_REALIGN_3_PRIME | chrX | TogoVar |