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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OR13D1_chr9_104689518_104700462 | 104695275 | G | GTGAA | frameshift_variant | HIGH | HG01255.hp2 HG01884.hp2 HG02257.hp2 others(3): Show |
a0005 | a0005c0006 | a0005c0006t0000 | a0005c0006t0000g0000 | 6 | 396 | 0.0152 | 4 | c.759 others(11): Show |
p.Ser others(5): Show |
OR13D1 | ENSG00000179055.8 | transcript | ENST00000641530.1 | protein_coding | 1/1 | 760/945 | 760/945 | 254/314 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
OR1A2_chr17_3192519_3203448 | 3197642 | AATCTGCT others(4): Show |
A | frameshift_variant | HIGH | HG02486.hp2 HG02897.hp1 HG03516.hp1 others(1): Show |
a0007 | a0007c0008 | a0007c0008t0000 | a0007c0008t0000g0000 | 4 | 430 | 0.0093 | -11 | c.129 others(18): Show |
p.Leu others(4): Show |
OR1A2 | ENSG00000172150.4 | transcript | ENST00000381951.1 | protein_coding | 1/1 | 129/930 | 129/930 | 43/309 | INFO_REALIGN_3_PRIME | chr17 | 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 | |
OR2T11_chr1_248618557_248640091 | 248626807 | CAG | C | frameshift_variant | HIGH | HG01433.hp1 HG01891.hp1 HG02723.hp2 others(3): Show |
a0004 | a0004c0005 | a0004c0005t0006a0004c0005t0014a0004c0005t0028 | a0004c0005t0006g0015a0004c0005t0006g0016a0004c0005t0014g0026others(1): Show | 6 | 314 | 0.0191 | -2 | c.320 others(9): Show |
p.Ser others(5): Show |
OR2T11 | ENSG00000279301.5 | transcript | ENST00000641193.1 | protein_coding | 2/2 | 519/3770 | 320/951 | 107/316 | chr1 | TogoVar | ||
OR2T12_chr1_248285139_248308424 | 248295194 | G | A | stop_gained | HIGH | HG03486.hp1 HG03516.hp1 HG06807.hp2 others(1): Show |
a0012 | a0012c0013 | a0012c0013t0012 | a0012c0013t0012g0029a0012c0013t0012g0030 | 4 | 406 | 0.0099 | 0 | c.385 others(3): Show |
p.Arg others(4): Show |
OR2T12 | ENSG00000177201.3 | transcript | ENST00000641276.1 | protein_coding | 3/3 | 653/5708 | 385/963 | 129/320 | 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 | 248638622 | CAGAT | C | frameshift_variant | HIGH | HG01433.hp2 HG01891.hp1 HG03225.hp1 others(2): Show |
a0002 | a0002c0007a0002c0010 | a0002c0007t0007a0002c0010t0012 | a0002c0007t0007g0030a0002c0007t0007g0033a0002c0007t0007g0074others(2): Show | 5 | 309 | 0.0162 | -4 | c.633 others(11): Show |
p.Val others(5): Show |
OR2T35 | ENSG00000177151.5 | transcript | ENST00000641268.1 | protein_coding | 2/2 | 690/2957 | 633/972 | 211/323 | 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 | ||
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 | |
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 | ||
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 | ||
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 | ||
OR56B2P_chr11_5756153_5774080 | 5765197 | G | A | stop_gained | HIGH | HG00639.hp2 HG01891.hp1 HG02622.hp2 others(14): Show |
a0003 | a0003c0004 | a0003c0004t0007a0003c0004t0009a0003c0004t0021 | a0003c0004t0007g0006a0003c0004t0007g0027a0003c0004t0007g0036others(2): Show | 17 | 434 | 0.0392 | 0 | c.99G others(2): Show |
p.Trp others(3): Show |
OR56B2P | ENSG00000181017.7 | transcript | ENST00000641377.2 | protein_coding | 2/2 | 185/4068 | 99/951 | 33/316 | 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 | |
OR5AC2_chr3_98082173_98093102 | 98088100 | T | C | stop_lost others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(33): Show |
a0000a0004a0009 | a0000c0003a0000c0004a0000c0009others(2): Show | a0000c0003t0000a0000c0004t0000a0000c0009t0000others(2): Show | a0000c0003t0000g0000a0000c0004t0000g0000a0000c0009t0000g0000others(2): Show | 36 | 462 | 0.0779 | 0 | c.928 others(3): Show |
p.Ter others(11): Show |
OR5AC2 | ENSG00000196578.4 | transcript | ENST00000358642.2 | protein_coding | 1/1 | 928/930 | 928/930 | 310/309 | chr3 | TogoVar | ||
OR5H15_chr3_98161696_98174774 | 98169478 | T | TG | frameshift_variant | HIGH | HG01891.hp2 HG02258.hp2 HG02622.hp1 others(6): Show |
a0007a0012 | a0007c0008a0012c0023 | a0007c0008t0003a0007c0008t0004a0012c0023t0003 | a0007c0008t0003g0008a0007c0008t0003g0013a0007c0008t0004g0008others(1): Show | 9 | 444 | 0.0203 | 1 | c.782 others(4): Show |
p.Ala others(5): Show |
OR5H15 | ENSG00000233412.6 | transcript | ENST00000641450.1 | protein_coding | 2/2 | 937/1229 | 783/942 | 261/313 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
OR5P3_chr11_7819818_7835840 | 7825116 | TTCAACAT others(908): Show |
T | frameshift_variant others(2): Show |
HIGH | HG02572.hp2 HG02630.hp2 HG02647.hp2 others(9): Show |
a0000 | a0000c0005 | a0000c0005t0005 | a0000c0005t0005g0007a0000c0005t0005g0029a0000c0005t0005g0030 | 12 | 422 | 0.0284 | -915 | c.-21 others(10): Show |
p.Met others(3): Show |
OR5P3 | ENSG00000182334.3 | transcript | ENST00000641167.1 | protein_coding | 2/2 | 894/1193 | 1/936 | 1/311 | 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 | |
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 | ||
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 | ||
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 | ||
OR7G3_chr19_9121012_9131950 | 9126240 | AG | A | frameshift_variant | HIGH | HG00280.hp2 HG00738.hp1 HG01069.hp1 others(23): Show |
a0002 | a0002c0003 | a0002c0003t0000 | a0002c0003t0000g0000 | 26 | 402 | 0.0647 | -1 | c.710 others(4): Show |
p.Ala others(5): Show |
OR7G3 | ENSG00000170920.2 | transcript | ENST00000305444.2 | protein_coding | 1/1 | 710/939 | 710/939 | 237/312 | 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 | |
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(7597): Show |
frameshift_variant others(1): Show |
HIGH | HG03225.hp2 HG03516.hp2 NA19030.hp2 others(1): Show |
a0002 | a0002c0011 | a0002c0011t0000 | a0002c0011t0000g0000 | 4 | 364 | 0.0110 | 7604 | c.590 others(7611): Show |
p.Phe others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 591/930 | 591/930 | 197/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7598): Show |
stop_gained others(1): Show |
HIGH | HG00639.hp1 HG00738.hp2 HG00741.hp1 others(18): Show |
a0002 | a0002c0005 | a0002c0005t0000 | a0002c0005t0000g0000 | 21 | 364 | 0.0577 | 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 | |
OXCT2_chr1_39764523_39776348 | 39770494 | GA | G | frameshift_variant | HIGH | HG00597.hp2 HG00609.hp2 HG00621.hp2 others(37): Show |
a0003a0006a0007others(2): Show | a0003c0004a0003c0008a0003c0012others(5): Show | a0003c0004t0004a0003c0008t0001a0003c0012t0004others(5): Show | a0003c0004t0004g0000a0003c0008t0001g0000a0003c0012t0004g0000others(5): Show | 40 | 454 | 0.0881 | -1 | c.761 others(4): Show |
p.Phe others(5): Show |
OXCT2 | ENSG00000198754.5 | transcript | ENST00000327582.5 | protein_coding | 1/1 | 854/1826 | 761/1554 | 254/517 | chr1 | TogoVar | ||
PEAK3_chr19_2269631_2287175 | 2275878 | G | GC | frameshift_variant | HIGH | HG00544.hp1 HG00597.hp2 HG02056.hp1 others(5): Show |
a0000 | a0000c0005a0000c0008 | a0000c0005t0001a0000c0005t0003a0000c0005t0005others(1): Show | a0000c0005t0001g0028a0000c0005t0001g0196a0000c0005t0003g0188others(3): Show | 8 | 454 | 0.0176 | 1 | c.122 others(5): Show |
p.Arg others(5): Show |
PEAK3 | ENSG00000188305.6 | transcript | ENST00000342063.5 | protein_coding | 4/4 | 1316/2564 | 1223/1422 | 408/473 | chr19 | TogoVar | ||
PEX11G_chr19_7471875_7494035 | 7477288 | C | CTA | frameshift_variant | HIGH | HG02895.hp1 HG02897.hp1 HG02976.hp1 others(2): Show |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0024a0004c0006t0001g0117a0004c0006t0001g0118 | 5 | 416 | 0.0120 | 2 | c.638 others(9): Show |
p.Val others(5): Show |
PEX11G | ENSG00000104883.8 | transcript | ENST00000221480.6 | protein_coding | 5/5 | 664/1078 | 639/726 | 213/241 | chr19 | TogoVar | ||
PHB2_chr12_6960327_6975664 | 6965713 | CTG | C | splice_acceptor_variant others(2): Show |
HIGH | HG03516.hp2 NA18941.hp1 NA18942.hp2 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0005a0001c0002t0001g0022a0001c0002t0004g0021 | 15 | 378 | 0.0397 | -2 | c.873 others(13): Show |
PHB2 | ENSG00000215021.10 | transcript | ENST00000535923.6 | protein_coding | 9/9 | chr12 | TogoVar | ||||||
PIDD1_chr11_794184_810231 | 801099 | C | CG | frameshift_variant | HIGH | HG00597.hp2 HG01109.hp2 HG01433.hp1 others(6): Show |
a0006a0010a0011others(1): Show | a0006c0010a0006c0026a0010c0015others(2): Show | a0006c0010t0001a0006c0026t0001a0010c0015t0001others(2): Show | a0006c0010t0001g0039a0006c0010t0001g0042a0006c0010t0001g0072others(4): Show | 9 | 408 | 0.0221 | 1 | c.165 others(5): Show |
p.Arg others(5): Show |
PIDD1 | ENSG00000177595.19 | transcript | ENST00000347755.10 | protein_coding | 10/16 | 1779/2984 | 1651/2733 | 551/910 | chr11 | 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 | ||
PKD1L3_chr16_71924538_72005402 | 71967237 | G | A | stop_gained | HIGH | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(84): Show |
a0001a0004a0017others(1): Show | a0001c0001a0001c0028a0001c0062others(14): Show | a0001c0001t0001a0001c0028t0001a0001c0062t0001others(16): Show | a0001c0001t0001g0050a0001c0001t0001g0147a0001c0001t0001g0157others(84): Show | 87 | 308 | 0.2825 | 0 | c.236 others(4): Show |
p.Arg others(4): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 15/30 | 2789/5623 | 2365/5199 | 789/1732 | chr16 | 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 | |||||
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 | |||||
POMK_chr8_43088515_43128434 | 43097519 | TAAAG | T | splice_acceptor_variant others(2): Show |
HIGH | HG01192.hp1 HG01884.hp1 HG01884.hp2 others(5): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0008t0002 | a0001c0001t0002g0015a0001c0001t0002g0065a0001c0001t0002g0066others(3): Show | 8 | 276 | 0.0290 | -4 | c.-20 others(15): Show |
POMK | ENSG00000185900.11 | transcript | ENST00000331373.10 | protein_coding | 2/5 | 6023 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||
POMZP3_chr7_76604986_76632279 | 76611468 | CA | C | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(209): Show |
a0000 | a0000c0002a0000c0004a0000c0005others(6): Show | a0000c0002t0002a0000c0002t0003a0000c0002t0004others(25): Show | a0000c0002t0002g0003a0000c0002t0002g0007a0000c0002t0002g0014others(183): Show | 212 | 423 | 0.5012 | -1 | c.560 others(4): Show |
p.Leu others(5): Show |
POMZP3 | ENSG00000146707.15 | transcript | ENST00000310842.9 | protein_coding | 6/7 | 1283/1528 | 560/564 | 187/187 | chr7 | TogoVar | ||
POU3F2_chr6_98829574_98844458 | 98835104 | C | CG | frameshift_variant | HIGH | HG00408.hp1 HG00597.hp1 HG00597.hp2 others(44): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(7): Show | a0002c0002t0001g0000a0002c0002t0002g0000a0002c0002t0004g0000others(7): Show | 47 | 436 | 0.1078 | 1 | c.239 others(4): Show |
p.Gly others(4): Show |
POU3F2 | ENSG00000184486.10 | transcript | ENST00000328345.8 | protein_coding | 1/1 | 540/4885 | 240/1332 | 80/443 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
POU3F3_chr2_104849115_104863574 | 104855606 | C | CG | frameshift_variant | HIGH | HG00597.hp1 HG00621.hp1 HG01981.hp2 others(17): Show |
a0000 | a0000c0003a0000c0004 | a0000c0003t0001a0000c0003t0003a0000c0003t0004others(3): Show | a0000c0003t0001g0000a0000c0003t0003g0000a0000c0003t0004g0000others(3): Show | 20 | 406 | 0.0493 | 1 | c.101 others(4): Show |
p.Gly others(4): Show |
POU3F3 | ENSG00000198914.5 | transcript | ENST00000361360.4 | protein_coding | 1/1 | 1498/4460 | 102/1503 | 34/500 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
PPP2R3A_chr3_135960728_136152894 | 136145062 | G | GATGA | frameshift_variant others(1): Show |
HIGH | HG02630.hp2 HG02896.hp2 HG02897.hp1 others(1): Show |
a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0212a0007c0008t0001g0231a0007c0008t0001g0232others(1): Show | 4 | 238 | 0.0168 | 4 | c.335 others(13): Show |
p.Pro others(6): Show |
PPP2R3A | ENSG00000073711.11 | transcript | ENST00000264977.8 | protein_coding | 14/14 | 3917/6743 | 3355/3453 | 1119/1150 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
PRAM1_chr19_8485056_8507640 | 8502591 | T | C | start_lost | HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(125): Show |
a0002a0003a0005others(36): Show | a0002c0002a0003c0003a0005c0005others(46): Show | a0002c0002t0002a0003c0003t0002a0005c0005t0002others(47): Show | a0002c0002t0002g0008a0002c0002t0002g0049a0002c0002t0002g0050others(99): Show | 128 | 422 | 0.3033 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
PRAM1 | ENSG00000133246.12 | transcript | ENST00000423345.5 | protein_coding | 1/10 | 50/2195 | 1/2013 | 1/670 | chr19 | TogoVar | ||
PRDM7_chr16_90051566_90082331 | 90064602 | CGGGGTTT others(6131): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG00099.hp2 HG02145.hp2 HG02280.hp2 others(6): Show |
a0006 | a0006c0006a0006c0010 | a0006c0006t0003a0006c0006t0011a0006c0006t0022others(1): Show | a0006c0006t0003g0107a0006c0006t0003g0109a0006c0006t0003g0196others(5): Show | 9 | 392 | 0.0230 | -6138 | c.302 others(16): Show |
PRDM7 | ENSG00000126856.16 | transcript | ENST00000449207.8 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
PRKD3_chr2_37245502_37329833 | 37253176 | A | AT | frameshift_variant | HIGH | HG00099.hp2 HG00741.hp1 HG02257.hp1 others(14): Show |
a0001a0002a0003 | a0001c0015a0002c0005a0003c0007 | a0001c0015t0049a0002c0005t0028a0002c0005t0029others(5): Show | a0001c0015t0049g0254a0002c0005t0028g0366a0002c0005t0028g0370others(14): Show | 17 | 388 | 0.0438 | 1 | c.267 others(5): Show |
p.Ter others(5): Show |
PRKD3 | ENSG00000115825.11 | transcript | ENST00000234179.8 | protein_coding | 19/19 | 3481/6156 | 2673/2673 | 891/890 | chr2 | TogoVar | ||
PRM3_chr16_11268199_11278629 | 11273286 | A | G | stop_lost | HIGH | HG01496.hp1 HG02280.hp1 HG02451.hp1 others(9): Show |
a0000 | a0000c0004a0000c0007 | a0000c0004t0001a0000c0004t0002a0000c0007t0002 | a0000c0004t0001g0000a0000c0004t0002g0000a0000c0007t0002g0000 | 12 | 414 | 0.0290 | 0 | c.310 others(3): Show |
p.Ter others(11): Show |
PRM3 | ENSG00000178257.4 | transcript | ENST00000327157.4 | protein_coding | 1/1 | 344/431 | 310/312 | 104/103 | chr16 | TogoVar |