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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | ||
OR52E8_chr11_5851749_5862690 | 5852754 | ATTTTCTT others(9502): Show |
A | transcript_ablation | HIGH | HG00639.hp2 HG02257.hp1 HG02486.hp2 others(9): Show |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 12 | 436 | 0.0275 | -9509 | c.-45 others(11): Show |
p.0? | OR52E8 | ENSG00000183269.6 | transcript | ENST00000537935.2 | protein_coding | 1/1 | 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 | ||
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 | |
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 | ||
OR7C1_chr19_14793515_14840185 | 14809805 | C | T | splice_donor_variant others(1): Show |
HIGH | HG02280.hp2 HG02572.hp1 HG02622.hp2 others(4): Show |
a0005 | a0005c0008 | a0005c0008t0007 | a0005c0008t0007g0037a0005c0008t0007g0038a0005c0008t0007g0039others(4): Show | 7 | 408 | 0.0172 | 0 | c.-43 others(6): Show |
OR7C1 | ENSG00000127530.4 | transcript | ENST00000641666.2 | protein_coding | 2/4 | chr19 | 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 | 9126293 | G | A | stop_gained | HIGH | HG00673.hp2 HG01884.hp2 HG02145.hp2 others(12): Show |
a0003a0005 | a0003c0004a0005c0006 | a0003c0004t0000a0005c0006t0000 | a0003c0004t0000g0000a0005c0006t0000g0000 | 15 | 402 | 0.0373 | 0 | c.658 others(3): Show |
p.Arg others(4): Show |
OR7G3 | ENSG00000170920.2 | transcript | ENST00000305444.2 | protein_coding | 1/1 | 658/939 | 658/939 | 220/312 | chr19 | TogoVar | ||
OR8G1_chr11_124236095_124259364 | 124249871 | CT | C | frameshift_variant | HIGH | HG01891.hp1 HG02145.hp1 HG02723.hp1 others(4): Show |
a0004 | a0004c0006 | a0004c0006t0003a0004c0006t0014a0004c0006t0036others(1): Show | a0004c0006t0003g0056a0004c0006t0014g0014a0004c0006t0036g0014others(1): Show | 7 | 430 | 0.0163 | -1 | c.197 others(4): Show |
p.Leu others(4): Show |
OR8G1 | ENSG00000197849.7 | transcript | ENST00000641972.1 | protein_coding | 3/3 | 563/5055 | 197/936 | 66/311 | chr11 | 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 | |
OR8K3_chr11_56310144_56325639 | 56319084 | C | T | stop_gained | HIGH | HG01257.hp2 HG02293.hp1 HG03688.hp2 others(1): Show |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0001 | 4 | 411 | 0.0097 | 0 | c.778 others(3): Show |
p.Gln others(4): Show |
OR8K3 | ENSG00000280314.4 | transcript | ENST00000641662.1 | protein_coding | 3/3 | 883/2438 | 778/939 | 260/312 | chr11 | TogoVar | ||
OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7598): Show |
stop_gained others(1): Show |
HIGH | HG00140.hp2 HG00323.hp2 HG00438.hp1 others(127): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0000a0001c0013t0000 | a0001c0001t0000g0000a0001c0013t0000g0000 | 130 | 364 | 0.3571 | 7605 | c.492 others(7612): Show |
p.Phe others(7618): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 493/930 | 493/930 | 165/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
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 | ||
P2RY8_chrX_1457581_1542185 | 1466419 | A | AC | frameshift_variant | HIGH | NA18906.hp2 | a0006 | a0006c0008 | a0006c0008t0005 | a0006c0008t0005g0051 | 1 | 114 | 0.0088 | 1 | c.139 others(4): Show |
p.Val others(4): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 2/2 | 428/4267 | 139/1080 | 47/359 | chrX | 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 | |
PGA4_chr11_61217347_61236694 | 61221906 | GAGAGAGA others(14781): Show |
G | transcript_ablation | HIGH | HG02976.hp1 HG03654.hp1 NA18906.hp1 |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 3 | 304 | 0.0099 | -14788 | c.-49 others(10): Show |
p.0? | PGA4 | ENSG00000229183.10 | transcript | ENST00000378149.9 | protein_coding | 2/9 | chr11 | TogoVar | |||||
PHETA2_chr22_42069248_42084438 | 42077278 | A | G | splice_acceptor_variant others(1): Show |
HIGH | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0012 | 1 | 406 | 0.0025 | 0 | c.-14 others(5): Show |
PHETA2 | ENSG00000177096.9 | transcript | ENST00000321753.8 | protein_coding | 2/2 | chr22 | TogoVar | ||||||
PHTF1_chr1_113691831_113764486 | 113705236 | TCGAGACA others(905): Show |
T | frameshift_variant others(3): Show |
HIGH | NA18906.hp1 | a0003 | a0003c0005 | a0003c0005t0012 | a0003c0005t0012g0017 | 1 | 330 | 0.0030 | -912 | c.141 others(13): Show |
p.Gln others(5): Show |
PHTF1 | ENSG00000116793.16 | transcript | ENST00000369604.6 | protein_coding | 13/19 | 1413/2289 | 471/762 | chr1 | 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 | ||
PIWIL3_chr22_24714034_24779720 | 24774320 | A | G | splice_donor_variant others(1): Show |
HIGH | HG02280.hp1 HG02970.hp1 NA18906.hp1 |
a0002 | a0002c0011 | a0002c0011t0002 | a0002c0011t0002g0011a0002c0011t0002g0012a0002c0011t0002g0013 | 3 | 386 | 0.0078 | 0 | c.-23 others(5): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 1/20 | chr22 | 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 | ||
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 | |
PLCD4_chr2_218602899_218642175 | 218630691 | C | A | stop_gained | HIGH | HG02896.hp2 HG02897.hp1 NA18906.hp1 |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0001a0002c0004t0002g0008 | 3 | 298 | 0.0101 | 0 | c.116 others(4): Show |
p.Cys others(4): Show |
PLCD4 | ENSG00000115556.14 | transcript | ENST00000450993.7 | protein_coding | 9/16 | 1366/3092 | 1161/2289 | 387/762 | chr2 | 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 | |||||
PLEKHG2_chr19_39407669_39433415 | 39424864 | T | A | stop_gained | HIGH | NA18906.hp1 | a0027 | a0027c0051 | a0027c0051t0010 | a0027c0051t0010g0027 | 1 | 414 | 0.0024 | 0 | c.373 others(4): Show |
p.Leu others(5): Show |
PLEKHG2 | ENSG00000090924.15 | transcript | ENST00000425673.6 | protein_coding | 19/19 | 4497/8048 | 3731/4161 | 1244/1386 | 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 | |||||
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 | ||
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 | ||
PRAMEF4_chr1_12874212_12891201 | 12875534 | CTAGCTAA others(5989): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG01891.hp2 HG02615.hp1 HG02622.hp2 others(2): Show |
a0000 | a0000c0007 | a0000c0007t0005 | a0000c0007t0005g0010a0000c0007t0005g0074 | 5 | 324 | 0.0154 | -5996 | c.875 others(13): Show |
PRAMEF4 | ENSG00000243073.4 | transcript | ENST00000235349.6 | protein_coding | 4/4 | 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 | ||
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 | ||
PRPF3_chr1_150316533_150358233 | 150324880 | C | CTTTT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(303): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(297): Show | 306 | 362 | 0.8453 | 4 | c.-48 others(15): Show |
PRPF3 | ENSG00000117360.13 | transcript | ENST00000324862.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRR12_chr19_49586182_49631439 | 49596852 | A | AC | frameshift_variant | HIGH | HG00735.hp2 HG01099.hp2 HG01175.hp1 others(6): Show |
a0003a0004 | a0003c0005a0004c0011 | a0003c0005t0001a0004c0011t0001a0004c0011t0002 | a0003c0005t0001g0009a0003c0005t0001g0216a0003c0005t0001g0232others(6): Show | 9 | 322 | 0.0280 | 1 | c.252 others(5): Show |
p.Pro others(5): Show |
PRR12 | ENSG00000126464.15 | transcript | ENST00000418929.7 | protein_coding | 4/14 | 2996/7416 | 2523/6111 | 841/2036 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
PRRT1B_chr9_131540523_131564815 | 131545620 | A | AGGCAGGA others(8): Show |
splice_donor_variant others(1): Show |
HIGH | HG01167.hp1 HG01891.hp2 HG02451.hp2 others(11): Show |
a0005a0006 | a0005c0006a0006c0009 | a0005c0006t0007a0005c0006t0014a0005c0006t0022others(5): Show | a0005c0006t0007g0081a0005c0006t0007g0082a0005c0006t0014g0024others(9): Show | 14 | 458 | 0.0306 | 15 | c.12_ others(22): Show |
PRRT1B | ENSG00000283526.2 | transcript | ENST00000636672.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | 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 | ||
PTEN_chr10_87858625_87976930 | 87960876 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(84): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(27): Show | a0001c0001t0002g0009a0001c0001t0002g0144a0001c0001t0002g0211others(84): Show | 87 | 322 | 0.2702 | 1 | c.802 others(6): Show |
PTEN | ENSG00000171862.15 | transcript | ENST00000371953.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
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 | |
PTPRQ_chr12_80439235_80685273 | 80484408 | T | TTTTC | splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp1 HG01074.hp2 HG01192.hp2 others(31): Show |
a0003a0005a0009others(14): Show | a0003c0003a0003c0079a0005c0004others(16): Show | a0003c0003t0001a0003c0003t0002a0003c0079t0001others(20): Show | a0003c0003t0001g0105a0003c0003t0001g0107a0003c0003t0002g0104others(31): Show | 34 | 178 | 0.1910 | 4 | c.118 others(17): Show |
PTPRQ | ENSG00000139304.16 | transcript | ENST00000644991.3 | protein_coding | 8/44 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RAD50_chr5_132551977_132651349 | 132605000 | G | A | splice_donor_variant others(1): Show |
HIGH | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0031 | 1 | 276 | 0.0036 | 0 | c.271 others(6): Show |
RAD50 | ENSG00000113522.14 | transcript | ENST00000378823.8 | protein_coding | 16/24 | chr5 | TogoVar | ||||||
RAET1L_chr6_150013334_150030532 | 150021990 | G | T | stop_gained | HIGH | HG02109.hp1 HG02559.hp1 HG02723.hp2 others(2): Show |
a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0017 | 5 | 468 | 0.0107 | 0 | c.339 others(3): Show |
p.Tyr others(4): Show |
RAET1L | ENSG00000155918.8 | transcript | ENST00000367341.6 | protein_coding | 2/5 | 400/1346 | 339/741 | 113/246 | chr6 | TogoVar | ||
RAMACL_chr6_166578009_166591678 | 166585488 | TCAAACAA others(1183): Show |
T | frameshift_variant others(1): Show |
HIGH | HG01070.hp1 HG01071.hp1 HG01167.hp1 others(40): Show |
a0000 | a0000c0000 | a0000c0000t0006a0000c0000t0009a0000c0000t0015others(3): Show | a0000c0000t0006g0000a0000c0000t0009g0000a0000c0000t0015g0000others(3): Show | 43 | 442 | 0.0973 | -1190 | c.-20 others(9): Show |
p.Met others(3): Show |
RAMACL | ENSG00000235272.3 | transcript | ENST00000444122.3 | protein_coding | 1/1 | 1190/3670 | 1/357 | 1/118 | chr6 | TogoVar | ||
RFPL1_chr22_29433583_29447455 | 29441610 | C | T | stop_gained | HIGH | HG03098.hp2 HG03471.hp1 NA18906.hp1 |
a0007 | a0007c0006 | a0007c0006t0001 | a0007c0006t0001g0010 | 3 | 444 | 0.0068 | 0 | c.442 others(3): Show |
p.Arg others(4): Show |
RFPL1 | ENSG00000128250.5 | transcript | ENST00000354373.2 | protein_coding | 2/2 | 651/1496 | 442/954 | 148/317 | chr22 | TogoVar | ||
RGPD4_chr2_107821892_107897544 | 107838282 | C | T | stop_gained | HIGH | HG01081.hp2 HG01167.hp2 HG02257.hp2 others(17): Show |
a0006a0022 | a0006c0007a0006c0008a0006c0076others(3): Show | a0006c0007t0005a0006c0007t0018a0006c0008t0005others(5): Show | a0006c0007t0005g0193a0006c0007t0005g0194a0006c0007t0005g0195others(17): Show | 20 | 374 | 0.0535 | 0 | c.166 others(3): Show |
p.Arg others(3): Show |
RGPD4 | ENSG00000196862.10 | transcript | ENST00000408999.4 | protein_coding | 3/23 | 288/7212 | 166/5277 | 56/1758 | chr2 | TogoVar | ||
RHBG_chr1_156364211_156390219 | 156384556 | T | TC | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(229): Show |
a0002a0003a0005others(9): Show | a0002c0002a0002c0008a0003c0004others(16): Show | a0002c0002t0001a0002c0008t0001a0003c0004t0001others(16): Show | a0002c0002t0001g0003a0002c0002t0001g0011a0002c0002t0001g0014others(130): Show | 232 | 438 | 0.5297 | 1 | c.127 others(5): Show |
p.Asp others(5): Show |
RHBG | ENSG00000132677.13 | transcript | ENST00000537040.6 | protein_coding | 9/10 | 1311/1790 | 1272/1377 | 424/458 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
RIBC2_chr22_45408693_45437509 | 45432357 | C | T | stop_gained | HIGH | HG02258.hp1 HG02965.hp2 HG02970.hp1 others(1): Show |
a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0060a0006c0007t0001g0181a0006c0007t0001g0195 | 4 | 424 | 0.0094 | 0 | c.114 others(4): Show |
p.Arg others(4): Show |
RIBC2 | ENSG00000128408.9 | transcript | ENST00000614167.2 | protein_coding | 7/7 | 1338/1490 | 1144/1149 | 382/382 | chr22 | TogoVar | ||
RNF224_chr9_137222502_137234640 | 137228812 | CCT | C | frameshift_variant | HIGH | HG02109.hp2 HG02257.hp1 HG02572.hp2 others(9): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002 | a0003c0003t0001g0001a0003c0003t0002g0001 | 12 | 394 | 0.0305 | -2 | c.198 others(9): Show |
p.Cys others(4): Show |
RNF224 | ENSG00000233198.4 | transcript | ENST00000445101.4 | protein_coding | 3/3 | 742/1569 | 198/471 | 66/156 | chr9 | TogoVar | ||
RPL28_chr19_55380932_55397085 | 55388029 | A | AC | frameshift_variant | HIGH | HG00438.hp1 HG00597.hp1 HG00621.hp1 others(52): Show |
a0000 | a0000c0002 | a0000c0002t0001a0000c0002t0002a0000c0002t0003others(14): Show | a0000c0002t0001g0001a0000c0002t0001g0020a0000c0002t0002g0001others(17): Show | 55 | 314 | 0.1752 | 1 | c.307 others(4): Show |
p.Arg others(5): Show |
RPL28 | ENSG00000108107.15 | transcript | ENST00000344063.7 | protein_coding | 4/5 | 350/4209 | 308/414 | 103/137 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |