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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OR51A4_chr11_4937831_4952605 | 4946398 | GCTCCTTT others(6200): Show |
G | exon_loss_variant | HIGH | HG00140.hp1 HG00735.hp2 HG01069.hp1 others(16): Show |
a0005 | a0005c0005 | a0005c0005t0007a0005c0005t0014 | a0005c0005t0007g0008a0005c0005t0014g0015 | 19 | 446 | 0.0426 | -6207 | c.-51 others(9): Show |
OR51A4 | ENSG00000205497.5 | transcript | ENST00000641898.1 | protein_coding | 1/2 | 825/4393 | chr11 | TogoVar | |||||
OR51B5_chr11_5337586_5348524 | 5343311 | CCAGCCCC others(10): Show |
C | frameshift_variant | HIGH | HG01361.hp2 HG01433.hp1 HG02109.hp2 others(19): Show |
a0004 | a0004c0004 | a0004c0004t0000 | a0004c0004t0000g0000 | 22 | 466 | 0.0472 | -17 | c.197 others(24): Show |
p.Ala others(4): Show |
OR51B5 | ENSG00000167355.8 | transcript | ENST00000300773.3 | protein_coding | 1/1 | 213/939 | 197/939 | 66/312 | 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 | ||
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 | ||
OR52N4_chr11_5749243_5760958 | 5755254 | A | T | stop_gained | HIGH | HG00099.hp2 HG00280.hp2 HG00597.hp2 others(63): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0006 | a0003c0003t0001g0001a0003c0003t0006g0001 | 66 | 472 | 0.1398 | 0 | c.514 others(3): Show |
p.Arg others(4): Show |
OR52N4 | ENSG00000181074.5 | transcript | ENST00000641350.2 | protein_coding | 2/2 | 625/1329 | 514/966 | 172/321 | chr11 | TogoVar | ||
OR56B2P_chr11_5756153_5774080 | 5763343 | CACTCTTG others(10730): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG00099.hp2 HG00280.hp2 HG00597.hp2 others(56): Show |
a0000 | a0000c0000 | a0000c0000t0002 | a0000c0000t0002g0003a0000c0000t0002g0023 | 59 | 434 | 0.1359 | -10737 | c.2-1 others(12): Show |
OR56B2P | ENSG00000181017.7 | transcript | ENST00000641377.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | 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 | |
OR5BS1P_chr12_48554882_48567956 | 48562793 | G | T | splice_acceptor_variant others(1): Show |
HIGH | HG01884.hp2 HG02886.hp2 HG03195.hp1 others(1): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0000a0002c0002t0000a0005c0005t0000 | a0001c0001t0000g0025a0002c0002t0000g0014a0005c0005t0000g0014 | 4 | 458 | 0.0087 | 0 | c.774 others(5): Show |
OR5BS1P | ENSG00000198678.5 | transcript | ENST00000328207.6 | protein_coding | 1/1 | chr12 | 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 | |
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 | ||
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 | 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 | |
OVCH2_chr11_7684437_7711477 | 7695672 | T | TAAGAATG others(309): Show |
frameshift_variant others(1): Show |
HIGH | HG02622.hp1 HG02922.hp1 HG02965.hp2 others(3): Show |
a0010 | a0010c0014a0010c0039a0010c0040 | a0010c0014t0002a0010c0039t0001a0010c0040t0004 | a0010c0014t0002g0042a0010c0014t0002g0245a0010c0014t0002g0247others(2): Show | 6 | 476 | 0.0126 | 316 | c.117 others(325): Show |
p.Ile others(5): Show |
OVCH2 | ENSG00000183378.13 | transcript | ENST00000533663.6 | protein_coding | 11/16 | 1262/1978 | 1179/1698 | 393/565 | chr11 | TogoVar | ||
OVCH2_chr11_7684437_7711477 | 7695672 | T | TAAGAATG others(309): Show |
frameshift_variant others(1): Show |
HIGH | HG01243.hp2 HG02109.hp2 HG02145.hp2 others(5): Show |
a0008 | a0008c0009a0008c0038 | a0008c0009t0002a0008c0009t0004a0008c0038t0004 | a0008c0009t0002g0232a0008c0009t0002g0250a0008c0009t0004g0021others(3): Show | 8 | 476 | 0.0168 | 316 | c.117 others(325): Show |
p.Ile others(5): Show |
OVCH2 | ENSG00000183378.13 | transcript | ENST00000533663.6 | protein_coding | 11/16 | 1262/1978 | 1179/1698 | 393/565 | chr11 | TogoVar | ||
P2RX2_chr12_132613776_132627388 | 132621877 | ATCTCTGC others(4): Show |
A | frameshift_variant | HIGH | HG03195.hp2 | a0003 | a0003c0014 | a0003c0014t0008 | a0003c0014t0008g0005 | 1 | 386 | 0.0026 | -11 | c.132 others(20): Show |
p.Ser others(5): Show |
P2RX2 | ENSG00000187848.15 | transcript | ENST00000643471.2 | protein_coding | 11/11 | 1366/1873 | 1325/1416 | 442/471 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
PATE4_chr11_125828316_125845072 | 125837866 | A | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(193): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0001c0001t0012a0001c0001t0016others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(21): Show | 196 | 424 | 0.4623 | 0 | c.59- others(4): Show |
PATE4 | ENSG00000237353.7 | transcript | ENST00000457514.3 | protein_coding | 1/2 | chr11 | TogoVar | ||||||
PCDHGA8_chr5_141387633_141517975 | 141393331 | GC | G | frameshift_variant | HIGH | HG00438.hp2 HG00609.hp2 HG00621.hp1 others(42): Show |
a0003 | a0003c0003a0003c0012 | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(4): Show | a0003c0003t0001g0162a0003c0003t0001g0256a0003c0003t0001g0270others(42): Show | 45 | 302 | 0.1490 | -1 | c.522 others(4): Show |
p.Asn others(5): Show |
PCDHGA8 | ENSG00000253767.3 | transcript | ENST00000398604.3 | protein_coding | 1/4 | 703/4782 | 522/2799 | 174/932 | INFO_REALIGN_3_PRIME | chr5 | 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 | ||
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 | ||||||
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 | ||||||
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 | ||
POTED_chr21_13604777_13650823 | 13628440 | TAGCC | T | frameshift_variant others(1): Show |
HIGH | HG02647.hp2 HG02970.hp1 HG02976.hp2 others(6): Show |
a0005 | a0005c0006 | a0005c0006t0009a0005c0006t0041 | a0005c0006t0009g0020a0005c0006t0009g0222a0005c0006t0009g0223others(3): Show | 9 | 416 | 0.0216 | -4 | c.119 others(13): Show |
p.Pro others(5): Show |
POTED | ENSG00000166351.11 | transcript | ENST00000299443.6 | protein_coding | 7/11 | 1644/6464 | 1192/1755 | 398/584 | INFO_REALIGN_3_PRIME | chr21 | 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 | ||||||
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 | ||
PRAMEF2_chr1_12852086_12866909 | 12859157 | C | T | stop_gained | HIGH | HG03195.hp2 | a0014 | a0014c0024 | a0014c0024t0008 | a0014c0024t0008g0024 | 1 | 338 | 0.0030 | 0 | c.148 others(3): Show |
p.Gln others(3): Show |
PRAMEF2 | ENSG00000120952.4 | transcript | ENST00000240189.2 | protein_coding | 2/4 | 235/1642 | 148/1425 | 50/474 | chr1 | TogoVar | ||
PRAMEF2_chr1_12852086_12866909 | 12860036 | G | T | stop_gained | HIGH | HG00642.hp2 HG01515.hp2 HG02071.hp1 others(25): Show |
a0002a0014 | a0002c0002a0002c0022a0002c0023others(1): Show | a0002c0002t0003a0002c0022t0003a0002c0023t0008others(1): Show | a0002c0002t0003g0005a0002c0002t0003g0022a0002c0002t0003g0023others(3): Show | 28 | 338 | 0.0828 | 0 | c.631 others(3): Show |
p.Glu others(4): Show |
PRAMEF2 | ENSG00000120952.4 | transcript | ENST00000240189.2 | protein_coding | 3/4 | 718/1642 | 631/1425 | 211/474 | chr1 | TogoVar | ||
PRAMEF33_chr1_13298539_13313907 | 13307108 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(242): Show |
a0001a0003a0022others(2): Show | a0001c0001a0001c0003a0001c0005others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(36): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0034others(62): Show | 245 | 417 | 0.5875 | 0 | c.758 others(3): Show |
p.Trp others(4): Show |
PRAMEF33 | ENSG00000237700.2 | transcript | ENST00000437300.2 | protein_coding | 3/4 | 831/1518 | 758/1425 | 253/474 | 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 | ||
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 | |||||
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 | ||
PTGDR_chr14_52262698_52281724 | 52268345 | C | G | stop_gained | HIGH | HG03139.hp2 HG03195.hp2 NA19240.hp1 |
a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0019 | 3 | 438 | 0.0069 | 0 | c.531 others(3): Show |
p.Tyr others(4): Show |
PTGDR | ENSG00000168229.4 | transcript | ENST00000306051.3 | protein_coding | 1/2 | 648/2957 | 531/1080 | 177/359 | chr14 | TogoVar | ||
PUSL1_chr1_1303597_1316677 | 1308915 | C | CG | frameshift_variant | HIGH | HG00408.hp1 HG00438.hp1 HG01123.hp1 others(16): Show |
a0002 | a0002c0002a0002c0008 | a0002c0002t0001a0002c0008t0001 | a0002c0002t0001g0001a0002c0002t0001g0003a0002c0008t0001g0004 | 19 | 352 | 0.0540 | 1 | c.82d others(3): Show |
p.Val others(4): Show |
PUSL1 | ENSG00000169972.13 | transcript | ENST00000379031.10 | protein_coding | 2/8 | 130/1257 | 83/912 | 28/303 | INFO_REALIGN_3_PRIME | chr1 | 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 | ||||||
RAD17_chr5_69364818_69419801 | 69371436 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00609.hp1 HG00642.hp1 HG01243.hp1 others(25): Show |
a0001a0010 | a0001c0001a0010c0011 | a0001c0001t0002a0010c0011t0002 | a0001c0001t0002g0326a0001c0001t0002g0327a0001c0001t0002g0328others(25): Show | 28 | 359 | 0.0780 | 1 | c.-27 others(7): Show |
RAD17 | ENSG00000152942.19 | transcript | ENST00000354868.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr5 | 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 | |||||
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 | ||
REG4_chr1_119789017_119816460 | 119799750 | C | T | stop_gained | HIGH | HG03195.hp2 | a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0080 | 1 | 462 | 0.0022 | 0 | c.278 others(3): Show |
p.Trp others(3): Show |
REG4 | ENSG00000134193.15 | transcript | ENST00000256585.10 | protein_coding | 4/6 | 424/1224 | 278/477 | 93/158 | chr1 | TogoVar | ||
RETNLB_chr3_108750638_108762410 | 108757146 | G | GGGGGATT others(1): Show |
frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(16): Show |
a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0007a0004c0004t0004g0021 | 19 | 452 | 0.0420 | 8 | c.32_ others(13): Show |
p.Leu others(4): Show |
RETNLB | ENSG00000163515.7 | transcript | ENST00000295755.7 | protein_coding | 1/3 | 264/701 | 39/336 | 13/111 | chr3 | 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 | |
RNF32_chr7_156635774_156682130 | 156675865 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00438.hp2 HG00609.hp2 HG01168.hp2 others(52): Show |
a0002a0003a0004others(1): Show | a0002c0002a0003c0003a0004c0005others(1): Show | a0002c0002t0001a0003c0003t0002a0003c0003t0004others(3): Show | a0002c0002t0001g0077a0003c0003t0002g0053a0003c0003t0002g0190others(41): Show | 55 | 448 | 0.1228 | 0 | c.852 others(5): Show |
RNF32 | ENSG00000105982.17 | transcript | ENST00000317955.10 | protein_coding | 8/8 | chr7 | TogoVar | ||||||
ROPN1B_chr3_125964178_125988454 | 125971115 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0068 | 1 | 448 | 0.0022 | 0 | c.-58 others(5): Show |
ROPN1B | ENSG00000114547.10 | transcript | ENST00000514116.6 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112130967 | T | TTGTATTT others(309): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG01168.hp1 HG02055.hp1 HG02257.hp2 others(6): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0002a0001c0002t0004a0001c0003t0003others(2): Show | a0001c0002t0002g0027a0001c0002t0002g0029a0001c0002t0002g0032others(6): Show | 9 | 134 | 0.0672 | 316 | c.-56 others(329): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar |