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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | ||
OR2T2_chr1_248440637_248460725 | 248446506 | AGATGGGC others(93): Show |
A | splice_acceptor_variant others(3): Show |
HIGH | HG01891.hp1 HG02055.hp1 HG02145.hp1 others(5): Show |
a0003 | a0003c0004 | a0003c0004t0007a0003c0004t0018 | a0003c0004t0007g0021a0003c0004t0007g0118a0003c0004t0007g0119others(3): Show | 8 | 329 | 0.0243 | -100 | c.-44 others(112): Show |
OR2T2 | ENSG00000196240.6 | transcript | ENST00000641925.2 | protein_coding | 2/4 | 6185 | INFO_REALIGN_3_PRIME | 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 | 248361985 | CTACG | C | frameshift_variant | HIGH | HG01261.hp2 HG01884.hp2 HG01891.hp1 others(11): Show |
a0005 | a0005c0006 | a0005c0006t0000 | a0005c0006t0000g0000 | 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 |
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 | ||
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 | ||
OR2W3_chr1_247890587_247901531 | 247896477 | G | GA | frameshift_variant | HIGH | HG00140.hp2 HG00642.hp2 HG01081.hp1 others(32): Show |
a0000 | a0000c0005a0000c0026a0000c0028 | a0000c0005t0000a0000c0026t0000a0000c0028t0000 | a0000c0005t0000g0000a0000c0026t0000g0000a0000c0028t0000g0000 | 35 | 388 | 0.0902 | 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 | |
OR4D10_chr11_59468315_59484361 | 59478120 | G | T | stop_gained | HIGH | HG00639.hp2 HG00733.hp1 HG01106.hp2 others(39): Show |
a0002a0005 | a0002c0002a0005c0006 | a0002c0002t0002a0002c0002t0007a0002c0002t0013others(2): Show | a0002c0002t0002g0002a0002c0002t0002g0010a0002c0002t0002g0035others(4): Show | 42 | 430 | 0.0977 | 0 | c.691 others(3): Show |
p.Glu others(4): Show |
OR4D10 | ENSG00000254466.2 | transcript | ENST00000530162.2 | protein_coding | 3/3 | 1241/2482 | 691/936 | 231/311 | chr11 | TogoVar | ||
OR4Q3_chr14_19738571_19754469 | 19747835 | CATGAACC others(7): Show |
C | frameshift_variant | HIGH | HG03139.hp2 | a0011 | a0011c0016 | a0011c0016t0001 | a0011c0016t0001g0010 | 1 | 276 | 0.0036 | -14 | c.436 others(21): Show |
p.Asn others(5): Show |
OR4Q3 | ENSG00000182652.4 | transcript | ENST00000642117.2 | protein_coding | 2/2 | 535/2165 | 436/966 | 146/321 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |
OR4Q3_chr14_19738571_19754469 | 19747905 | C | T | stop_gained | HIGH | HG03139.hp1 | a0008 | a0008c0014 | a0008c0014t0001 | a0008c0014t0001g0015 | 1 | 276 | 0.0036 | 0 | c.502 others(3): Show |
p.Gln others(4): Show |
OR4Q3 | ENSG00000182652.4 | transcript | ENST00000642117.2 | protein_coding | 2/2 | 601/2165 | 502/966 | 168/321 | chr14 | TogoVar | ||
OR51F1_chr11_4763979_4774938 | 4769643 | CG | C | frameshift_variant | HIGH | HG00639.hp1 HG00735.hp2 HG00738.hp2 others(62): Show |
a0002a0007 | a0002c0003a0002c0004a0002c0005others(8): Show | a0002c0003t0000a0002c0004t0000a0002c0005t0000others(8): Show | a0002c0003t0000g0000a0002c0004t0000g0000a0002c0005t0000g0000others(8): Show | 65 | 342 | 0.1901 | -1 | c.295 others(4): Show |
p.Arg others(4): Show |
OR51F1 | ENSG00000280021.3 | transcript | ENST00000624103.2 | protein_coding | 1/1 | 295/960 | 295/960 | 99/319 | chr11 | TogoVar | ||
OR51I2_chr11_5444323_5461518 | 5454410 | CA | C | frameshift_variant | HIGH | HG00642.hp2 HG01109.hp2 HG01884.hp2 others(22): Show |
a0000 | a0000c0006a0000c0011 | a0000c0006t0005a0000c0006t0017a0000c0006t0023others(2): Show | a0000c0006t0005g0011a0000c0006t0005g0017a0000c0006t0005g0030others(5): Show | 25 | 482 | 0.0519 | -1 | c.923 others(4): Show |
p.His others(5): Show |
OR51I2 | ENSG00000187918.6 | transcript | ENST00000641930.1 | protein_coding | 2/2 | 1195/3302 | 923/939 | 308/312 | 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 | ||
OR51V1_chr11_5194735_5205682 | 5200208 | TAAAG | T | frameshift_variant | HIGH | HG02280.hp2 HG02572.hp2 HG02717.hp1 others(9): Show |
a0004 | a0004c0005a0004c0006 | a0004c0005t0000a0004c0006t0000 | a0004c0005t0000g0000a0004c0006t0000g0000 | 12 | 446 | 0.0269 | -4 | c.471 others(11): Show |
p.Phe others(5): Show |
OR51V1 | ENSG00000176742.3 | transcript | ENST00000641270.1 | protein_coding | 1/1 | 474/948 | 471/948 | 157/315 | 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 | ||
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 | ||
OR5AC2_chr3_98082173_98093102 | 98087856 | G | GA | frameshift_variant | HIGH | HG01175.hp2 HG02055.hp1 HG02109.hp2 others(14): Show |
a0004a0007a0009 | a0004c0010a0004c0015a0007c0011others(1): Show | a0004c0010t0000a0004c0015t0000a0007c0011t0000others(1): Show | a0004c0010t0000g0000a0004c0015t0000g0000a0007c0011t0000g0000others(1): Show | 17 | 462 | 0.0368 | 1 | c.692 others(4): Show |
p.Ser others(5): Show |
OR5AC2 | ENSG00000196578.4 | transcript | ENST00000358642.2 | protein_coding | 1/1 | 693/930 | 693/930 | 231/309 | INFO_REALIGN_3_PRIME | chr3 | 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 | ||
OR5AS1_chr11_56022654_56043191 | 56027713 | G | A | splice_donor_variant others(1): Show |
HIGH | HG03139.hp1 | a0010 | a0010c0009 | a0010c0009t0038 | a0010c0009t0038g0017 | 1 | 432 | 0.0023 | 0 | c.-29 others(5): Show |
OR5AS1 | ENSG00000181785.3 | transcript | ENST00000641320.1 | protein_coding | 1/1 | chr11 | TogoVar | ||||||
OR5K2_chr3_98492681_98503631 | 98498334 | T | A | stop_gained | HIGH | HG00099.hp1 HG00642.hp2 HG00673.hp1 others(46): Show |
a0002 | a0002c0002a0002c0003a0002c0011 | a0002c0002t0000a0002c0003t0000a0002c0011t0000 | a0002c0002t0000g0000a0002c0003t0000g0000a0002c0011t0000g0000 | 49 | 486 | 0.1008 | 0 | c.654 others(3): Show |
p.Tyr others(4): Show |
OR5K2 | ENSG00000231861.3 | transcript | ENST00000427338.3 | protein_coding | 1/1 | 654/951 | 654/951 | 218/316 | chr3 | TogoVar | ||
OR5K4_chr3_98348854_98359819 | 98354747 | TA | T | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(100): Show |
a0002a0008 | a0002c0002a0008c0009 | a0002c0002t0000a0008c0009t0000 | a0002c0002t0000g0000a0008c0009t0000g0000 | 103 | 452 | 0.2279 | -1 | c.901 others(4): Show |
p.Ile others(5): Show |
OR5K4 | ENSG00000196098.2 | transcript | ENST00000354924.2 | protein_coding | 1/1 | 901/966 | 901/966 | 301/321 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
OR6C4_chr12_55544602_55560832 | 55551800 | CTCTT | C | frameshift_variant | HIGH | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(16): Show |
a0003a0004 | a0003c0003a0004c0004a0004c0007others(1): Show | a0003c0003t0007a0003c0003t0015a0003c0003t0016others(4): Show | a0003c0003t0007g0001a0003c0003t0015g0002a0003c0003t0015g0007others(5): Show | 19 | 422 | 0.0450 | -4 | c.575 others(11): Show |
p.Leu others(5): Show |
OR6C4 | ENSG00000179626.4 | transcript | ENST00000641569.1 | protein_coding | 2/2 | 1110/5141 | 575/930 | 192/309 | 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 | ||
OR6V1_chr7_143047341_143058282 | 143052342 | T | C | start_lost | HIGH | HG02055.hp2 HG02258.hp1 HG02486.hp2 others(7): Show |
a0005 | a0005c0006 | a0005c0006t0000 | a0005c0006t0000g0000 | 10 | 367 | 0.0273 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
OR6V1 | ENSG00000225781.2 | transcript | ENST00000418316.2 | protein_coding | 1/1 | 2/942 | 2/942 | 1/313 | chr7 | TogoVar | ||
OR6Y1_chr1_158539550_158559405 | 158546972 | CATGATTG others(4974): Show |
C | start_lost others(2): Show |
HIGH | HG02451.hp1 HG03041.hp2 HG03098.hp1 others(3): Show |
a0000 | a0000c0000 | a0000c0000t0016a0000c0000t0048 | a0000c0000t0016g0017a0000c0000t0016g0097a0000c0000t0048g0098 | 6 | 430 | 0.0140 | -4981 | c.-14 others(15): Show |
p.Met others(11): Show |
OR6Y1 | ENSG00000197532.3 | transcript | ENST00000641622.1 | protein_coding | 2/2 | 2705/5128 | 1/978 | 1/325 | chr1 | 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 | ||
OR8G1_chr11_124236095_124259364 | 124250452 | C | G | stop_gained | HIGH | HG00099.hp1 HG00323.hp1 HG00423.hp2 others(214): Show |
a0001a0004a0006 | a0001c0002a0001c0003a0001c0012others(2): Show | a0001c0002t0003a0001c0002t0005a0001c0002t0007others(20): Show | a0001c0002t0003g0003a0001c0002t0003g0010a0001c0002t0003g0020others(42): Show | 217 | 430 | 0.5047 | 0 | c.777 others(3): Show |
p.Tyr others(4): Show |
OR8G1 | ENSG00000197849.7 | transcript | ENST00000641972.1 | protein_coding | 3/3 | 1143/5055 | 777/936 | 259/311 | chr11 | TogoVar | ||
OR8G1_chr11_124236095_124259364 | 124250538 | TGATTTAT others(844): Show |
T | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp1 HG00423.hp2 others(214): Show |
a0001a0004a0006 | a0001c0002a0001c0003a0001c0012others(2): Show | a0001c0002t0003a0001c0002t0005a0001c0002t0007others(20): Show | a0001c0002t0003g0003a0001c0002t0003g0010a0001c0002t0003g0020others(42): Show | 217 | 430 | 0.5047 | -851 | c.866 others(8): Show |
p.Ile others(5): Show |
OR8G1 | ENSG00000197849.7 | transcript | ENST00000641972.1 | protein_coding | 3/3 | 1232/5055 | 866/936 | 289/311 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
OR8I2_chr11_56088308_56099240 | 56093801 | GT | G | frameshift_variant | HIGH | HG00099.hp1 HG00323.hp1 HG01433.hp2 others(5): Show |
a0003 | a0003c0003a0003c0004 | a0003c0003t0000a0003c0004t0000 | a0003c0003t0000g0000a0003c0004t0000g0000 | 8 | 458 | 0.0175 | -1 | c.497 others(4): Show |
p.Leu others(5): Show |
OR8I2 | ENSG00000172154.11 | transcript | ENST00000302124.8 | protein_coding | 1/1 | 497/933 | 497/933 | 166/310 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
OR8I2_chr11_56088308_56099240 | 56093830 | CA | C | frameshift_variant | HIGH | HG00099.hp1 HG00323.hp1 HG01433.hp2 others(5): Show |
a0003 | a0003c0003a0003c0004 | a0003c0003t0000a0003c0004t0000 | a0003c0003t0000g0000a0003c0004t0000g0000 | 8 | 458 | 0.0175 | -1 | c.524 others(4): Show |
p.His others(5): Show |
OR8I2 | ENSG00000172154.11 | transcript | ENST00000302124.8 | protein_coding | 1/1 | 524/933 | 524/933 | 175/310 | chr11 | TogoVar | ||
OR8I2_chr11_56088308_56099240 | 56094174 | C | G | stop_gained | HIGH | HG00099.hp1 HG00323.hp1 HG01433.hp2 others(5): Show |
a0003 | a0003c0003a0003c0004 | a0003c0003t0000a0003c0004t0000 | a0003c0003t0000g0000a0003c0004t0000g0000 | 8 | 458 | 0.0175 | 0 | c.867 others(3): Show |
p.Tyr others(4): Show |
OR8I2 | ENSG00000172154.11 | transcript | ENST00000302124.8 | protein_coding | 1/1 | 867/933 | 867/933 | 289/310 | chr11 | 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(7599): Show |
frameshift_variant others(1): Show |
HIGH | HG03139.hp1 | a0011 | a0011c0042 | a0011c0042t0000 | a0011c0042t0000g0000 | 1 | 364 | 0.0028 | 7606 | c.590 others(7613): 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(7599): Show |
frameshift_variant others(1): Show |
HIGH | HG02818.hp2 HG03139.hp2 |
a0002 | a0002c0020 | a0002c0020t0000 | a0002c0020t0000g0000 | 2 | 364 | 0.0055 | 7606 | c.590 others(7613): 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 | |
P2RX5_chr17_3668227_3701155 | 3690982 | TG | T | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(206): Show | 219 | 362 | 0.6050 | -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 | ||
PALD1_chr10_70473767_70573450 | 70529208 | G | GC | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp1 HG00280.hp2 HG00609.hp1 others(47): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0004a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0035a0001c0001t0001g0044a0001c0001t0001g0050others(47): Show | 50 | 308 | 0.1623 | 1 | c.186 others(6): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr10 | 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 | ||
PCDHA8_chr5_140836187_141017347 | 140842552 | AGCGCCCT others(16784): Show |
A | frameshift_variant others(3): Show |
HIGH | HG01106.hp1 HG01346.hp2 HG01978.hp1 others(12): Show |
a0005a0012a0018 | a0005c0005a0012c0010a0018c0017 | a0005c0005t0001a0012c0010t0001a0018c0017t0001 | a0005c0005t0001g0001a0005c0005t0001g0005a0005c0005t0001g0006others(12): Show | 15 | 258 | 0.0581 | -16791 | c.123 others(15): Show |
p.Ser others(5): Show |
PCDHA8 | ENSG00000204962.6 | transcript | ENST00000531613.2 | protein_coding | 1/4 | 1367/5398 | 1232/2853 | 411/950 | chr5 | TogoVar | ||
PDLIM2_chr8_22575475_22599298 | 22593765 | A | AC | frameshift_variant | HIGH | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(39): Show |
a0002a0005a0008others(1): Show | a0002c0003a0002c0004a0002c0018others(4): Show | a0002c0003t0001a0002c0003t0002a0002c0004t0001others(6): Show | a0002c0003t0001g0005a0002c0003t0001g0041a0002c0003t0001g0054others(37): Show | 42 | 380 | 0.1105 | 1 | c.916 others(4): Show |
p.Arg others(5): Show |
PDLIM2 | ENSG00000120913.24 | transcript | ENST00000409417.6 | protein_coding | 9/9 | 1047/1577 | 917/1059 | 306/352 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |
PEBP4_chr8_22708251_22932914 | 22713394 | GT | G | frameshift_variant | HIGH | HG00140.hp2 HG00544.hp1 HG00544.hp2 others(74): Show |
a0003a0004a0006others(5): Show | a0003c0003a0003c0011a0003c0013others(9): Show | a0003c0003t0003a0003c0003t0004a0003c0003t0010others(15): Show | a0003c0003t0003g0034a0003c0003t0003g0036a0003c0003t0003g0040others(74): Show | 77 | 278 | 0.2770 | -1 | c.659 others(4): Show |
p.Asn others(5): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 7/7 | 757/901 | 659/684 | 220/227 | chr8 | TogoVar | ||
PGPEP1L_chr15_98963229_99012792 | 98968575 | A | AC | frameshift_variant | HIGH | HG00280.hp2 HG00423.hp1 HG00438.hp2 others(166): Show |
a0000 | a0000c0002a0000c0005a0000c0010 | a0000c0002t0001a0000c0002t0002a0000c0002t0003others(16): Show | a0000c0002t0001g0001a0000c0002t0001g0003a0000c0002t0001g0004others(162): Show | 169 | 398 | 0.4246 | 1 | c.331 others(4): Show |
p.Val others(5): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 5/5 | 1134/1481 | 331/429 | 111/142 | chr15 | 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 | ||
PKD1L3_chr16_71924538_72005402 | 71947511 | CTTTG | C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00639.hp1 others(61): Show |
a0003a0004a0006others(10): Show | a0003c0004a0003c0016a0003c0072others(16): Show | a0003c0004t0001a0003c0016t0001a0003c0072t0001others(16): Show | a0003c0004t0001g0033a0003c0004t0001g0146a0003c0004t0001g0159others(61): Show | 64 | 308 | 0.2078 | -4 | c.369 others(13): Show |
p.Thr others(6): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/30 | 4122/5623 | 3695/5199 | 1232/1732 | chr16 | TogoVar | ||
PKD2L1_chr10_100283149_100335228 | 100296259 | G | A | stop_gained | HIGH | HG01109.hp2 HG01884.hp2 HG01891.hp1 others(16): Show |
a0004a0011 | a0004c0005a0004c0015a0004c0022others(1): Show | a0004c0005t0001a0004c0015t0001a0004c0022t0001others(1): Show | a0004c0005t0001g0062a0004c0005t0001g0187a0004c0005t0001g0200others(16): Show | 19 | 306 | 0.0621 | 0 | c.121 others(4): Show |
p.Arg others(4): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 7/16 | 1344/2790 | 1219/2418 | 407/805 | chr10 | TogoVar | ||
PLA2G2C_chr1_20158055_20191518 | 20172257 | GGCCACGC others(1787): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG03139.hp2 NA21309.hp1 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0221a0004c0004t0001g0268 | 2 | 406 | 0.0049 | -1794 | c.179 others(15): Show |
PLA2G2C | ENSG00000187980.7 | transcript | ENST00000679259.1 | protein_coding | 4/5 | chr1 | TogoVar | ||||||
PLA2G2C_chr1_20158055_20191518 | 20175089 | G | A | stop_gained | HIGH | HG00323.hp1 HG00609.hp2 HG00621.hp2 others(81): Show |
a0003 | a0003c0003a0003c0007 | a0003c0003t0001a0003c0003t0002a0003c0007t0001 | a0003c0003t0001g0002a0003c0003t0001g0015a0003c0003t0001g0023others(59): Show | 84 | 406 | 0.2069 | 0 | c.97C others(2): Show |
p.Arg others(3): Show |
PLA2G2C | ENSG00000187980.7 | transcript | ENST00000679259.1 | protein_coding | 3/5 | 332/1621 | 97/450 | 33/149 | chr1 | TogoVar | ||
PLEKHA2_chr8_38896346_38978912 | 38901439 | C | CG | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(334): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0015others(332): Show | 337 | 376 | 0.8963 | 1 | c.-24 others(6): Show |
PLEKHA2 | ENSG00000169499.15 | transcript | ENST00000617275.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PLK5_chr19_1519077_1541046 | 1531737 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG01106.hp2 HG01192.hp2 HG02145.hp2 others(3): Show |
a0004a0005 | a0004c0004a0005c0006 | a0004c0004t0063a0005c0006t0025a0005c0006t0036others(1): Show | a0004c0004t0063g0324a0005c0006t0025g0044a0005c0006t0025g0323others(2): Show | 6 | 430 | 0.0140 | 0 | c.569 others(5): Show |
PLK5 | ENSG00000185988.15 | transcript | ENST00000454744.7 | protein_coding | 11/13 | chr19 | TogoVar | ||||||
POLR3B_chr12_106352748_106515198 | 106427179 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00642.hp1 others(55): Show |
a0001a0005 | a0001c0001a0001c0011a0005c0016 | a0001c0001t0001a0001c0001t0009a0001c0011t0001others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011others(55): Show | 58 | 304 | 0.1908 | 1 | c.110 others(7): Show |
POLR3B | ENSG00000013503.10 | transcript | ENST00000228347.9 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |