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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | |
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 | ||
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 | ||
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(7599): Show |
frameshift_variant others(1): Show |
HIGH | HG01884.hp1 HG02055.hp2 HG02559.hp2 |
a0005 | a0005c0015 | a0005c0015t0000 | a0005c0015t0000g0000 | 3 | 364 | 0.0082 | 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(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 | |
OTOF_chr2_26452203_26483124 | 26477421 | C | A | stop_gained | HIGH | HG01891.hp2 HG02055.hp1 HG02109.hp1 others(9): Show |
a0003a0007 | a0003c0006a0007c0020 | a0003c0006t0002a0007c0020t0006 | a0003c0006t0002g0032a0003c0006t0002g0033a0003c0006t0002g0204others(7): Show | 12 | 330 | 0.0364 | 0 | c.160 others(3): Show |
p.Glu others(3): Show |
OTOF | ENSG00000115155.19 | transcript | ENST00000339598.8 | protein_coding | 3/29 | 468/4838 | 160/3693 | 54/1230 | chr2 | TogoVar | ||
OTOF_chr2_26452203_26563756 | 26477421 | C | A | stop_gained | HIGH | HG01891.hp2 HG02055.hp1 HG02109.hp1 others(9): Show |
a0005a0014 | a0005c0012a0005c0026a0014c0033 | a0005c0012t0001a0005c0026t0003a0014c0033t0001 | a0005c0012t0001g0036a0005c0012t0001g0170a0005c0012t0001g0171others(9): Show | 12 | 284 | 0.0423 | 0 | c.240 others(4): Show |
p.Glu others(4): Show |
OTOF | ENSG00000115155.19 | transcript | ENST00000272371.7 | protein_coding | 20/47 | 2586/7214 | 2401/5994 | 801/1997 | chr2 | TogoVar | ||
OVCH2_chr11_7684437_7711477 | 7695672 | T | TAAGAATG others(310): Show |
frameshift_variant others(1): Show |
HIGH | HG02055.hp2 HG03540.hp2 NA21309.hp1 |
a0016 | a0016c0018 | a0016c0018t0002a0016c0018t0004 | a0016c0018t0002g0252a0016c0018t0004g0043 | 3 | 476 | 0.0063 | 317 | c.117 others(326): Show |
p.Ile others(5): Show |
OVCH2 | ENSG00000183378.13 | transcript | ENST00000533663.6 | protein_coding | 11/16 | 1262/1978 | 1179/1698 | 393/565 | 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 | ||
PANX2_chr22_50165731_50185295 | 50177892 | A | AC | frameshift_variant | HIGH | HG00423.hp2 HG00741.hp2 HG01243.hp2 others(7): Show |
a0000a0002 | a0000c0004a0000c0005a0000c0012others(1): Show | a0000c0004t0003a0000c0004t0008a0000c0005t0001others(3): Show | a0000c0004t0003g0002a0000c0004t0008g0010a0000c0005t0001g0006others(5): Show | 10 | 440 | 0.0227 | 1 | c.118 others(5): Show |
p.Thr others(5): Show |
PANX2 | ENSG00000073150.14 | transcript | ENST00000395842.3 | protein_coding | 2/3 | 1186/3052 | 1186/2034 | 396/677 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |
PARVG_chr22_44175925_44213469 | 44206382 | C | T | stop_gained | HIGH | HG02055.hp1 NA19240.hp1 |
a0003 | a0003c0007 | a0003c0007t0002 | a0003c0007t0002g0067a0003c0007t0002g0161 | 2 | 422 | 0.0047 | 0 | c.952 others(3): Show |
p.Gln others(4): Show |
PARVG | ENSG00000138964.17 | transcript | ENST00000444313.8 | protein_coding | 14/14 | 1401/3488 | 952/996 | 318/331 | chr22 | TogoVar | ||
PATZ1_chr22_31320804_31351346 | 31345592 | A | AC | frameshift_variant | HIGH | HG02055.hp1 HG04204.hp1 NA18956.hp1 others(3): Show |
a0004a0005 | a0004c0007a0004c0008a0005c0009 | a0004c0007t0001a0004c0007t0002a0004c0007t0003others(2): Show | a0004c0007t0001g0057a0004c0007t0002g0056a0004c0007t0003g0143others(3): Show | 6 | 386 | 0.0155 | 1 | c.10d others(3): Show |
p.Val others(3): Show |
PATZ1 | ENSG00000100105.18 | transcript | ENST00000266269.10 | protein_coding | 1/5 | 754/3895 | 10/2064 | 4/687 | chr22 | 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 | ||
PKN1_chr19_14428306_14476859 | 14470639 | A | AC | frameshift_variant | HIGH | HG00621.hp2 HG02055.hp1 HG02055.hp2 others(11): Show |
a0004a0005a0013 | a0004c0033a0005c0009a0005c0021others(4): Show | a0004c0033t0001a0005c0009t0001a0005c0009t0003others(5): Show | a0004c0033t0001g0290a0005c0009t0001g0045a0005c0009t0001g0054others(11): Show | 14 | 376 | 0.0372 | 1 | c.250 others(5): Show |
p.Arg others(5): Show |
PKN1 | ENSG00000123143.13 | transcript | ENST00000242783.11 | protein_coding | 20/22 | 2723/3120 | 2507/2829 | 836/942 | INFO_REALIGN_3_PRIME | chr19 | 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 | |||||
PLIN4_chr19_4497192_4523486 | 4510779 | C | CG | frameshift_variant | HIGH | HG01192.hp2 HG01891.hp1 HG02055.hp1 others(7): Show |
a0033a0046a0064others(6): Show | a0033c0034a0046c0165a0064c0121others(6): Show | a0033c0034t0002a0033c0034t0003a0046c0165t0001others(7): Show | a0033c0034t0002g0208a0033c0034t0003g0207a0046c0165t0001g0071others(7): Show | 10 | 412 | 0.0243 | 1 | c.318 others(5): Show |
p.Ala others(6): Show |
PLIN4 | ENSG00000167676.5 | transcript | ENST00000301286.5 | protein_coding | 5/8 | 3299/6502 | 3180/4116 | 1060/1371 | chr19 | 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 | ||||||
PLSCR4_chr3_146187335_146256105 | 146222069 | C | G | start_lost | HIGH | HG02055.hp2 HG03453.hp1 NA19030.hp1 |
a0005 | a0005c0005 | a0005c0005t0009a0005c0005t0015a0005c0005t0021 | a0005c0005t0009g0317a0005c0005t0015g0318a0005c0005t0021g0314 | 3 | 380 | 0.0079 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
PLSCR4 | ENSG00000114698.15 | transcript | ENST00000354952.7 | protein_coding | 2/9 | 170/3233 | 3/990 | 1/329 | chr3 | TogoVar | ||
PML_chr15_73989716_74052827 | 74023135 | C | CG | frameshift_variant | HIGH | HG00423.hp1 HG00738.hp1 HG00738.hp2 others(17): Show |
a0003 | a0003c0003a0003c0006a0003c0008others(4): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(7): Show | a0003c0003t0001g0001a0003c0003t0001g0007a0003c0003t0001g0008others(17): Show | 20 | 342 | 0.0585 | 1 | c.912 others(4): Show |
p.Tyr others(5): Show |
PML | ENSG00000140464.20 | transcript | ENST00000268058.8 | protein_coding | 3/9 | 1010/5565 | 913/2649 | 305/882 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
PNCK_chrX_153664733_153678813 | 153671171 | A | AG | frameshift_variant | HIGH | HG02055.hp1 HG04115.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0041a0002c0002t0001g0059 | 2 | 276 | 0.0073 | 1 | c.633 others(4): Show |
p.Phe others(5): Show |
PNCK | ENSG00000130822.16 | transcript | ENST00000340888.8 | protein_coding | 8/12 | 669/1473 | 633/1032 | 211/343 | chrX | 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 | ||
POR_chr7_75910155_75991855 | 75985687 | G | GT | frameshift_variant | HIGH | HG01993.hp2 HG02055.hp2 HG04184.hp2 others(2): Show |
a0005a0009a0010 | a0005c0011a0009c0018a0010c0020 | a0005c0011t0002a0009c0018t0002a0010c0020t0002 | a0005c0011t0002g0140a0005c0011t0002g0145a0005c0011t0002g0160others(2): Show | 5 | 278 | 0.0180 | 1 | c.149 others(10): Show |
p.Ala others(5): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 13/16 | 1537/2446 | 1499/2034 | 500/677 | chr7 | 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 | |
PPIG_chr2_169579351_169646406 | 169584491 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp1 HG00438.hp2 others(85): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0002a0001c0001t0007a0001c0001t0009others(11): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0006others(80): Show | 88 | 382 | 0.2304 | 0 | c.-70 others(5): Show |
PPIG | ENSG00000138398.17 | transcript | ENST00000260970.8 | protein_coding | 1/13 | chr2 | TogoVar | ||||||
PRAMEF4_chr1_12874212_12891201 | 12881888 | A | AAACAGAG others(316): Show |
frameshift_variant others(1): Show |
HIGH | HG02055.hp1 HG02257.hp1 HG02647.hp2 others(3): Show |
a0010a0013a0020 | a0010c0011a0013c0015a0020c0025 | a0010c0011t0004a0013c0015t0004a0020c0025t0004 | a0010c0011t0004g0023a0013c0015t0004g0118a0013c0015t0004g0120others(1): Show | 6 | 324 | 0.0185 | 323 | c.840 others(330): Show |
p.Ser others(5): Show |
PRAMEF4 | ENSG00000243073.4 | transcript | ENST00000235349.6 | protein_coding | 3/4 | 911/1840 | 840/1437 | 280/478 | chr1 | TogoVar | ||
PRB3_chr12_11260914_11274707 | 11267400 | A | AG | frameshift_variant | HIGH | HG00544.hp1 HG00597.hp1 HG00597.hp2 others(77): Show |
a0003a0005a0007others(9): Show | a0003c0003a0005c0005a0007c0006others(9): Show | a0003c0003t0002a0005c0005t0002a0007c0006t0002others(9): Show | a0003c0003t0002g0004a0003c0003t0002g0023a0003c0003t0002g0033others(14): Show | 80 | 443 | 0.1806 | 1 | c.848 others(4): Show |
p.His others(5): Show |
PRB3 | ENSG00000197870.14 | transcript | ENST00000538488.3 | protein_coding | 3/4 | 886/1227 | 848/1056 | 283/351 | chr12 | TogoVar | ||
PRSS48_chr4_151272161_151296862 | 151291451 | T | G | stop_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(322): Show |
a0000a0002 | a0000c0001a0000c0002a0000c0005others(4): Show | a0000c0001t0002a0000c0001t0004a0000c0001t0005others(6): Show | a0000c0001t0002g0001a0000c0001t0002g0008a0000c0001t0002g0010others(100): Show | 325 | 428 | 0.7594 | 0 | c.985 others(3): Show |
p.Ter others(11): Show |
PRSS48 | ENSG00000189099.12 | transcript | ENST00000455694.7 | protein_coding | 5/5 | 997/1408 | 985/987 | 329/328 | chr4 | TogoVar | ||
PSG7_chr19_42919132_42942207 | 42935542 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(373): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0002a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(32): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(319): Show | 376 | 416 | 0.9039 | 0 | c.292 others(3): Show |
p.Arg others(3): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/6 | 423/2067 | 292/1260 | 98/419 | chr19 | TogoVar | ||
PTPN23_chr3_47376021_47418435 | 47410831 | A | AC | frameshift_variant | HIGH | HG00140.hp2 HG00597.hp1 HG00738.hp2 others(33): Show |
a0005a0006 | a0005c0007a0005c0010a0005c0029others(7): Show | a0005c0007t0001a0005c0010t0001a0005c0029t0001others(7): Show | a0005c0007t0001g0001a0005c0007t0001g0008a0005c0007t0001g0016others(31): Show | 36 | 332 | 0.1084 | 1 | c.304 others(5): Show |
p.Leu others(6): Show |
PTPN23 | ENSG00000076201.16 | transcript | ENST00000265562.5 | protein_coding | 20/25 | 3117/5237 | 3041/4911 | 1014/1636 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
PTPN23_chr3_47376021_47418435 | 47411089 | A | AC | frameshift_variant | HIGH | HG00408.hp1 HG00544.hp1 HG00558.hp2 others(132): Show |
a0002a0004a0005others(6): Show | a0002c0003a0002c0008a0002c0009others(19): Show | a0002c0003t0001a0002c0008t0001a0002c0008t0002others(20): Show | a0002c0003t0001g0001a0002c0003t0001g0002a0002c0003t0001g0012others(118): Show | 135 | 332 | 0.4066 | 1 | c.329 others(5): Show |
p.Arg others(6): Show |
PTPN23 | ENSG00000076201.16 | transcript | ENST00000265562.5 | protein_coding | 20/25 | 3373/5237 | 3297/4911 | 1099/1636 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
PYGL_chr14_50900217_50949483 | 50911872 | CT | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(250): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(26): Show | a0001c0001t0002g0010a0001c0001t0002g0100a0001c0001t0002g0114others(188): Show | 253 | 390 | 0.6487 | -1 | c.182 others(7): Show |
PYGL | ENSG00000100504.17 | transcript | ENST00000216392.8 | protein_coding | 15/19 | chr14 | TogoVar | ||||||
RAD51B_chr14_67814779_68483093 | 67864961 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG01123.hp2 HG01175.hp1 HG01261.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0001a0001c0001t0001g0018a0001c0001t0001g0024others(4): Show | 7 | 84 | 0.0833 | 1 | c.316 others(6): Show |
RAD51B | ENSG00000182185.19 | transcript | ENST00000471583.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
RAP2C_chrX_132198025_132224447 | 132217914 | A | AC | splice_donor_variant others(1): Show |
HIGH | HG02055.hp1 HG02602.hp1 HG03831.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0012others(1): Show | a0001c0001t0001g0088a0001c0001t0009g0089a0001c0001t0012g0082others(1): Show | 4 | 235 | 0.0170 | 1 | c.-53 others(7): Show |
RAP2C | ENSG00000123728.10 | transcript | ENST00000370874.2 | protein_coding | 3/5 | chrX | TogoVar | ||||||
RAPH1_chr2_203428682_203540301 | 203441288 | T | TG | frameshift_variant | HIGH | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(33): Show |
a0002a0006 | a0002c0005a0002c0006a0002c0012others(8): Show | a0002c0005t0002a0002c0005t0003a0002c0005t0011others(28): Show | a0002c0005t0002g0136a0002c0005t0002g0168a0002c0005t0003g0145others(33): Show | 36 | 290 | 0.1241 | 1 | c.190 others(5): Show |
p.Pro others(5): Show |
RAPH1 | ENSG00000173166.18 | transcript | ENST00000319170.10 | protein_coding | 14/14 | 2092/9699 | 1901/3753 | 634/1250 | chr2 | TogoVar | ||
RARA_chr17_40304180_40362643 | 40348371 | A | AC | frameshift_variant | HIGH | HG00423.hp1 HG00735.hp2 HG01175.hp2 others(11): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0008 | a0002c0002t0001g0001a0002c0002t0001g0024a0002c0002t0001g0025others(11): Show | 14 | 286 | 0.0490 | 1 | c.239 others(4): Show |
p.Leu others(4): Show |
RARA | ENSG00000131759.18 | transcript | ENST00000254066.10 | protein_coding | 3/9 | 709/3275 | 240/1389 | 80/462 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
RAX2_chr19_3764089_3777228 | 3770840 | C | CG | frameshift_variant | HIGH | HG01433.hp2 HG02055.hp1 HG02148.hp2 others(15): Show |
a0000 | a0000c0002a0000c0006 | a0000c0002t0001a0000c0002t0002a0000c0002t0003others(3): Show | a0000c0002t0001g0006a0000c0002t0002g0027a0000c0002t0002g0050others(5): Show | 18 | 436 | 0.0413 | 1 | c.335 others(4): Show |
p.Ala others(5): Show |
RAX2 | ENSG00000173976.16 | transcript | ENST00000555633.3 | protein_coding | 3/3 | 669/2421 | 335/555 | 112/184 | chr19 | TogoVar | ||
RAX2_chr19_3764089_3777228 | 3772011 | C | CTG | splice_acceptor_variant others(1): Show |
HIGH | HG02055.hp2 HG02109.hp2 HG02280.hp2 others(9): Show |
a0000a0001 | a0000c0002a0001c0001 | a0000c0002t0005a0001c0001t0002a0001c0001t0005others(2): Show | a0000c0002t0005g0033a0001c0001t0002g0014a0001c0001t0005g0034others(2): Show | 12 | 436 | 0.0275 | 2 | c.-26 others(15): Show |
RAX2 | ENSG00000173976.16 | transcript | ENST00000555633.3 | protein_coding | 1/2 | chr19 | TogoVar | ||||||
RBMXL2_chr11_7083998_7096148 | 7089456 | C | CG | frameshift_variant | HIGH | HG00621.hp1 HG00642.hp2 HG01099.hp2 others(39): Show |
a0003a0005a0010others(1): Show | a0003c0004a0003c0005a0003c0011others(4): Show | a0003c0004t0001a0003c0004t0002a0003c0004t0003others(9): Show | a0003c0004t0001g0000a0003c0004t0002g0000a0003c0004t0003g0000others(9): Show | 42 | 460 | 0.0913 | 1 | c.341 others(4): Show |
p.Gly others(5): Show |
RBMXL2 | ENSG00000170748.7 | transcript | ENST00000306904.7 | protein_coding | 1/1 | 465/2151 | 342/1179 | 114/392 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
RBMXL3_chrX_115184410_115197868 | 115189900 | A | AC | frameshift_variant | HIGH | HG02055.hp1 | a0026 | a0026c0034 | a0026c0034t0001 | a0026c0034t0001g0000 | 1 | 314 | 0.0032 | 1 | c.461 others(4): Show |
p.Arg others(5): Show |
RBMXL3 | ENSG00000175718.10 | transcript | ENST00000424776.5 | protein_coding | 1/1 | 494/3459 | 462/3204 | 154/1067 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
RBMX_chrX_136868461_136885725 | 136879426 | A | AT | frameshift_variant others(1): Show |
HIGH | HG01943.hp1 HG02055.hp1 HG02145.hp1 others(4): Show |
a0001a0008 | a0001c0002a0008c0003 | a0001c0002t0001a0008c0003t0001 | a0001c0002t0001g0029a0001c0002t0001g0031a0001c0002t0001g0079others(4): Show | 7 | 308 | 0.0227 | 1 | c.1du others(2): Show |
p.Met others(3): Show |
RBMX | ENSG00000147274.14 | transcript | ENST00000320676.11 | protein_coding | 2/9 | 156/2012 | 1/1176 | 1/391 | chrX | TogoVar | ||
RECQL5_chr17_75621854_75672154 | 75630838 | C | CTG | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(144): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0021others(6): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0001others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0011others(111): Show | 147 | 378 | 0.3889 | 2 | c.158 others(15): Show |
RECQL5 | ENSG00000108469.15 | transcript | ENST00000317905.10 | protein_coding | 11/19 | chr17 | TogoVar | ||||||
RFPL1_chr22_29433583_29447455 | 29441895 | C | T | stop_gained | HIGH | HG00642.hp2 HG01074.hp1 HG01192.hp2 others(32): Show |
a0003a0005a0011 | a0003c0003a0005c0009a0011c0012 | a0003c0003t0003a0005c0009t0003a0011c0012t0003 | a0003c0003t0003g0005a0003c0003t0003g0008a0003c0003t0003g0014others(4): Show | 35 | 444 | 0.0788 | 0 | c.727 others(3): Show |
p.Gln others(4): Show |
RFPL1 | ENSG00000128250.5 | transcript | ENST00000354373.2 | protein_coding | 2/2 | 936/1496 | 727/954 | 243/317 | chr22 | TogoVar | ||
RFX1_chr19_13956530_14011320 | 13993751 | C | CG | frameshift_variant | HIGH | HG00423.hp2 HG01109.hp2 HG01928.hp1 others(8): Show |
a0003 | a0003c0003a0003c0004 | a0003c0003t0001a0003c0003t0003a0003c0003t0008others(3): Show | a0003c0003t0001g0093a0003c0003t0001g0094a0003c0003t0001g0127others(8): Show | 11 | 280 | 0.0393 | 1 | c.92d others(3): Show |
p.Pro others(4): Show |
RFX1 | ENSG00000132005.9 | transcript | ENST00000254325.9 | protein_coding | 2/21 | 362/4375 | 92/2940 | 31/979 | chr19 | TogoVar | ||
RFX8_chr2_101392359_101480112 | 101422474 | T | G | splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp2 HG00544.hp2 HG00558.hp1 others(42): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0002a0004c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0109others(36): Show | 45 | 352 | 0.1278 | 0 | c.73- others(4): Show |
RFX8 | ENSG00000196460.14 | transcript | ENST00000428343.6 | protein_coding | 2/11 | chr2 | TogoVar | ||||||
RGPD4_chr2_107821892_107897544 | 107872796 | G | T | stop_gained | HIGH | HG02055.hp1 | a0046 | a0046c0058 | a0046c0058t0036 | a0046c0058t0036g0006 | 1 | 374 | 0.0027 | 0 | c.479 others(4): Show |
p.Glu others(5): Show |
RGPD4 | ENSG00000196862.10 | transcript | ENST00000408999.4 | protein_coding | 20/23 | 4914/7212 | 4792/5277 | 1598/1758 | chr2 | TogoVar |