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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OR10X1_chr1_158573919_158584899 | 158579702 | C | T | stop_gained | HIGH | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(209): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0000a0001c0004t0000a0001c0006t0000others(1): Show | a0001c0001t0000g0000a0001c0004t0000g0000a0001c0006t0000g0000others(1): Show | 212 | 430 | 0.4930 | 0 | c.198 others(3): Show |
p.Trp others(3): Show |
OR10X1 | ENSG00000279111.2 | transcript | ENST00000623167.1 | protein_coding | 1/1 | 198/981 | 198/981 | 66/326 | chr1 | TogoVar | ||
OR11G2_chr14_20185896_20206075 | 20198016 | C | CA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0015a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(59): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0008others(101): Show | 275 | 482 | 0.5705 | 1 | c.585 others(4): Show |
p.Gly others(5): Show |
OR11G2 | ENSG00000196832.5 | transcript | ENST00000641879.2 | protein_coding | 2/2 | 1361/4413 | 586/936 | 196/311 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |
OR1B1_chr9_122623125_122662627 | 122628962 | G | A | stop_gained | HIGH | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(158): Show |
a0002a0003a0006 | a0002c0002a0002c0016a0002c0017others(2): Show | a0002c0002t0002a0002c0002t0012a0002c0016t0002others(3): Show | a0002c0002t0002g0001a0002c0002t0002g0007a0002c0002t0002g0021others(81): Show | 161 | 420 | 0.3833 | 0 | c.571 others(3): Show |
p.Arg others(4): Show |
OR1B1 | ENSG00000280094.3 | transcript | ENST00000623530.2 | protein_coding | 2/2 | 1104/1941 | 571/954 | 191/317 | chr9 | TogoVar | ||
OR1S1_chr11_58207720_58221084 | 58215722 | A | G | stop_lost | HIGH | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(223): Show |
a0000 | a0000c0001a0000c0006a0000c0010others(1): Show | a0000c0001t0001a0000c0001t0006a0000c0001t0010others(3): Show | a0000c0001t0001g0001a0000c0001t0001g0004a0000c0001t0001g0007others(13): Show | 226 | 460 | 0.4913 | 0 | c.939 others(3): Show |
p.Ter others(11): Show |
OR1S1 | ENSG00000280204.4 | transcript | ENST00000641544.1 | protein_coding | 2/2 | 1112/1474 | 939/939 | 313/312 | chr11 | TogoVar | ||
OR2D3_chr11_6916002_6926994 | 6921357 | TC | T | frameshift_variant | HIGH | HG00733.hp2 HG01256.hp1 HG01258.hp2 others(12): Show |
a0005 | a0005c0005a0005c0013 | a0005c0005t0000a0005c0013t0000 | a0005c0005t0000g0000a0005c0013t0000g0000 | 15 | 466 | 0.0322 | -1 | c.357 others(4): Show |
p.Leu others(5): Show |
OR2D3 | ENSG00000178358.5 | transcript | ENST00000317834.5 | protein_coding | 1/1 | 357/993 | 357/993 | 119/330 | chr11 | TogoVar | ||
OR2J1_chr6_29094490_29107701 | 29101522 | C | T | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(142): Show |
a0003a0006 | a0003c0002a0003c0006a0006c0008 | a0003c0002t0001a0003c0002t0005a0003c0002t0006others(5): Show | a0003c0002t0001g0001a0003c0002t0001g0006a0003c0002t0005g0001others(6): Show | 145 | 445 | 0.3258 | 0 | c.580 others(3): Show |
p.Gln others(4): Show |
OR2J1 | ENSG00000204702.6 | transcript | ENST00000641659.2 | protein_coding | 2/2 | 1132/2311 | 580/939 | 194/312 | chr6 | TogoVar | ||
OR2L8_chr1_247943858_247954796 | 247949724 | T | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(273): Show |
a0001a0007a0008others(1): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0000a0001c0002t0000a0001c0006t0000others(4): Show | a0001c0001t0000g0000a0001c0002t0000g0000a0001c0006t0000g0000others(4): Show | 276 | 379 | 0.7282 | 0 | c.867 others(3): Show |
p.Tyr others(4): Show |
OR2L8 | ENSG00000279263.1 | transcript | ENST00000623922.1 | protein_coding | 1/1 | 867/939 | 867/939 | 289/312 | 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 | |
OR51F1_chr11_4763979_4774938 | 4769643 | CG | C | frameshift_variant | HIGH | HG00639.hp1 HG00735.hp2 HG00738.hp2 others(62): Show |
a0002a0007 | a0002c0003a0002c0004a0002c0005others(8): Show | a0002c0003t0000a0002c0004t0000a0002c0005t0000others(8): Show | a0002c0003t0000g0000a0002c0004t0000g0000a0002c0005t0000g0000others(8): Show | 65 | 342 | 0.1901 | -1 | c.295 others(4): Show |
p.Arg others(4): Show |
OR51F1 | ENSG00000280021.3 | transcript | ENST00000624103.2 | protein_coding | 1/1 | 295/960 | 295/960 | 99/319 | chr11 | TogoVar | ||
OR51I2_chr11_5444323_5461518 | 5454201 | T | TCA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(53): Show |
a0003 | a0003c0003 | a0003c0003t0003a0003c0003t0025a0003c0003t0027others(2): Show | a0003c0003t0003g0001a0003c0003t0003g0024a0003c0003t0003g0038others(14): Show | 56 | 482 | 0.1162 | 2 | c.714 others(9): Show |
p.Asn others(5): Show |
OR51I2 | ENSG00000187918.6 | transcript | ENST00000641930.1 | protein_coding | 2/2 | 988/3302 | 716/939 | 239/312 | INFO_REALIGN_3_PRIME | 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 | 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 | ||
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 | ||
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 | ||
OR5K3_chr3_98385666_98396631 | 98391562 | G | GA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(89): Show |
a0000 | a0000c0002a0000c0009 | a0000c0002t0000a0000c0009t0000 | a0000c0002t0000g0000a0000c0009t0000g0000 | 92 | 472 | 0.1949 | 1 | c.904 others(4): Show |
p.Ile others(5): Show |
OR5K3 | ENSG00000206536.1 | transcript | ENST00000383695.1 | protein_coding | 1/1 | 905/966 | 905/966 | 302/321 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
OR5K4_chr3_98348854_98359819 | 98354747 | TA | T | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(100): Show |
a0002a0008 | a0002c0002a0008c0009 | a0002c0002t0000a0008c0009t0000 | a0002c0002t0000g0000a0008c0009t0000g0000 | 103 | 452 | 0.2279 | -1 | c.901 others(4): Show |
p.Ile others(5): Show |
OR5K4 | ENSG00000196098.2 | transcript | ENST00000354924.2 | protein_coding | 1/1 | 901/966 | 901/966 | 301/321 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
OR5M3_chr11_56464274_56478352 | 56470542 | CTAAAA | C | splice_acceptor_variant others(2): Show |
HIGH | HG01167.hp1 HG01168.hp2 HG01256.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0011 | 4 | 452 | 0.0089 | -5 | c.-44 others(16): Show |
OR5M3 | ENSG00000174937.5 | transcript | ENST00000641993.1 | protein_coding | 1/1 | chr11 | 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 | ||
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 | ||
OXR1_chr8_106265190_106757694 | 106692712 | TA | T | splice_acceptor_variant others(1): Show |
HIGH | HG01256.hp2 HG02647.hp2 HG02717.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0093a0001c0001t0003g0101a0001c0002t0001g0026others(2): Show | 5 | 172 | 0.0291 | -1 | c.526 others(6): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PANK2_chr20_3884387_3934887 | 3889432 | T | A | start_lost | HIGH | HG00408.hp2 HG00735.hp2 HG01070.hp1 others(43): Show |
a0001 | a0001c0003a0001c0006 | a0001c0003t0001a0001c0003t0004a0001c0003t0010others(11): Show | a0001c0003t0001g0034a0001c0003t0004g0001a0001c0003t0004g0002others(39): Show | 46 | 422 | 0.1090 | 0 | c.2T> others(1): Show |
p.Leu others(2): Show |
PANK2 | ENSG00000125779.24 | transcript | ENST00000610179.7 | protein_coding | 1/7 | 46/8020 | 2/1383 | 1/460 | chr20 | 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 | ||||||
PGPEP1L_chr15_98963229_99012792 | 98968575 | A | AC | frameshift_variant | HIGH | HG00280.hp2 HG00423.hp1 HG00438.hp2 others(166): Show |
a0000 | a0000c0002a0000c0005a0000c0010 | a0000c0002t0001a0000c0002t0002a0000c0002t0003others(16): Show | a0000c0002t0001g0001a0000c0002t0001g0003a0000c0002t0001g0004others(162): Show | 169 | 398 | 0.4246 | 1 | c.331 others(4): Show |
p.Val others(5): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 5/5 | 1134/1481 | 331/429 | 111/142 | chr15 | TogoVar | ||
PITRM1_chr10_3132728_3177782 | 3166375 | T | TGCACGCT others(18): Show |
frameshift_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(277): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0001c0005others(43): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0002others(44): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(208): Show | 280 | 446 | 0.6278 | 25 | c.271 others(32): Show |
p.Gln others(4): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 4/27 | 281/3427 | 271/3114 | 91/1037 | chr10 | TogoVar | ||
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 | 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 | ||||||
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 | ||
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 | ||
PRAMEF4_chr1_12874212_12891201 | 12881888 | A | AAACAGAG others(315): Show |
frameshift_variant others(1): Show |
HIGH | HG00280.hp2 HG00735.hp2 HG01081.hp1 others(14): Show |
a0003 | a0003c0004a0003c0027 | a0003c0004t0004a0003c0027t0004 | a0003c0004t0004g0005a0003c0004t0004g0017a0003c0004t0004g0075others(3): Show | 17 | 324 | 0.0525 | 322 | c.840 others(329): Show |
p.Ser others(5): Show |
PRAMEF4 | ENSG00000243073.4 | transcript | ENST00000235349.6 | protein_coding | 3/4 | 911/1840 | 840/1437 | 280/478 | chr1 | TogoVar | ||
PRB4_chr12_11302077_11315436 | 11308868 | G | A | stop_gained | HIGH | HG00099.hp2 HG00733.hp2 HG01069.hp1 others(13): Show |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0007a0005c0005t0001g0047 | 16 | 451 | 0.0355 | 0 | c.115 others(3): Show |
p.Arg others(3): Show |
PRB4 | ENSG00000230657.8 | transcript | ENST00000279575.7 | protein_coding | 3/4 | 153/923 | 115/744 | 39/247 | chr12 | TogoVar | ||
PRR23D1_chr8_7534627_7547450 | 7541827 | AG | A | frameshift_variant | HIGH | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(57): Show |
a0000 | a0000c0001a0000c0007a0000c0008others(2): Show | a0000c0001t0003a0000c0001t0004a0000c0001t0006others(8): Show | a0000c0001t0003g0001a0000c0001t0003g0012a0000c0001t0004g0001others(11): Show | 60 | 166 | 0.3615 | -1 | c.790 others(4): Show |
p.Val others(5): Show |
PRR23D1 | ENSG00000255251.2 | transcript | ENST00000533250.2 | protein_coding | 4/4 | 968/1588 | 790/840 | 264/279 | INFO_REALIGN_3_PRIME | chr8 | 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 | ||
PSG4_chr19_43187702_43210638 | 43204252 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp1 HG00558.hp1 HG00597.hp2 others(39): Show |
a0002a0014a0018others(1): Show | a0002c0002a0014c0020a0018c0038others(1): Show | a0002c0002t0003a0002c0002t0006a0002c0002t0017others(4): Show | a0002c0002t0003g0001a0002c0002t0003g0021a0002c0002t0003g0162others(22): Show | 42 | 300 | 0.1400 | 0 | c.65- others(4): Show |
PSG4 | ENSG00000243137.8 | transcript | ENST00000405312.8 | protein_coding | 1/5 | chr19 | 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 | ||
RAMACL_chr6_166578009_166591678 | 166586147 | G | A | stop_gained | HIGH | HG01123.hp2 HG01256.hp1 HG01258.hp1 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0011 | a0003c0003t0011g0000 | 6 | 442 | 0.0136 | 0 | c.331 others(3): Show |
p.Gln others(4): Show |
RAMACL | ENSG00000235272.3 | transcript | ENST00000444122.3 | protein_coding | 1/1 | 532/3670 | 331/357 | 111/118 | chr6 | TogoVar | ||
RASAL3_chr19_15446624_15469544 | 15457747 | C | CA | frameshift_variant | HIGH | HG00408.hp1 HG01256.hp1 HG02293.hp1 others(5): Show |
a0003 | a0003c0007a0003c0012 | a0003c0007t0001a0003c0007t0002a0003c0007t0003others(2): Show | a0003c0007t0001g0099a0003c0007t0001g0100a0003c0007t0001g0137others(5): Show | 8 | 384 | 0.0208 | 1 | c.975 others(8): Show |
p.Val others(5): Show |
RASAL3 | ENSG00000105122.13 | transcript | ENST00000343625.12 | protein_coding | 9/18 | 1034/3266 | 975/3036 | 325/1011 | chr19 | TogoVar | ||
RAVER2_chr1_64740075_64838232 | 64830890 | CCAGAAGG others(31): Show |
C | frameshift_variant | HIGH | HG01256.hp1 | a0000 | a0000c0009 | a0000c0009t0021 | a0000c0009t0021g0145 | 1 | 364 | 0.0028 | -38 | c.198 others(47): Show |
p.Glu others(5): Show |
RAVER2 | ENSG00000162437.15 | transcript | ENST00000294428.8 | protein_coding | 12/12 | 2083/4421 | 1985/2076 | 662/691 | INFO_REALIGN_3_PRIME | chr1 | 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 | ||||||
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 | |
RHOXF2_chrX_120153613_120170630 | 120163651 | TC | T | frameshift_variant | HIGH | HG01256.hp1 | a0000 | a0000c0012 | a0000c0012t0052 | a0000c0012t0052g0046 | 1 | 177 | 0.0057 | -1 | c.735 others(4): Show |
p.Met others(5): Show |
RHOXF2 | ENSG00000131721.6 | transcript | ENST00000371388.5 | protein_coding | 4/4 | 873/2848 | 735/867 | 245/288 | INFO_REALIGN_3_PRIME | chrX | 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 | ||||||
RTL3_chrX_78651068_78664328 | 78657969 | TG | T | frameshift_variant | HIGH | HG01256.hp1 | a0007 | a0007c0008 | a0007c0008t0002 | a0007c0008t0002g0019 | 1 | 322 | 0.0031 | -1 | c.451 others(4): Show |
p.Gln others(5): Show |
RTL3 | ENSG00000179300.4 | transcript | ENST00000321110.2 | protein_coding | 2/2 | 747/2649 | 451/1428 | 151/475 | chrX | TogoVar | ||
RXFP2_chr13_31734526_31808389 | 31786554 | T | TAAA | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp2 HG00544.hp1 HG00558.hp2 others(101): Show |
a0001a0006a0007 | a0001c0001a0001c0004a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(101): Show | 104 | 386 | 0.2694 | 3 | c.100 others(16): Show |
RXFP2 | ENSG00000133105.8 | transcript | ENST00000298386.7 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
SCRN3_chr2_174390730_174434575 | 174427852 | TTCAAATT others(6): Show |
T | frameshift_variant | HIGH | HG00323.hp2 HG00558.hp1 HG00639.hp2 others(85): Show |
a0000 | a0000c0002a0000c0004a0000c0008 | a0000c0002t0002a0000c0002t0004a0000c0002t0012others(2): Show | a0000c0002t0002g0002a0000c0002t0002g0009a0000c0002t0002g0010others(47): Show | 88 | 364 | 0.2418 | -13 | c.125 others(22): Show |
p.Asn others(5): Show |
SCRN3 | ENSG00000144306.15 | transcript | ENST00000272732.11 | protein_coding | 8/8 | 1348/3052 | 1251/1275 | 417/424 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
SDR42E1_chr16_81983855_82016470 | 82000205 | G | A | stop_gained | HIGH | HG00140.hp1 HG00738.hp2 HG01099.hp1 others(11): Show |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0005a0004c0004t0018others(6): Show | a0004c0004t0001g0052a0004c0004t0005g0050a0004c0004t0018g0028others(7): Show | 14 | 420 | 0.0333 | 0 | c.88C others(2): Show |
p.Gln others(3): Show |
SDR42E1 | ENSG00000184860.10 | transcript | ENST00000328945.7 | protein_coding | 3/3 | 198/11548 | 88/1182 | 30/393 | chr16 | TogoVar | ||
SIGLEC12_chr19_51486227_51506800 | 51501537 | G | GC | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(226): Show |
a0001a0003a0005others(3): Show | a0001c0002a0001c0003a0001c0010others(23): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0005others(27): Show | a0001c0002t0001g0001a0001c0002t0001g0004a0001c0002t0001g0012others(92): Show | 229 | 432 | 0.5301 | 1 | c.196 others(4): Show |
p.Ala others(4): Show |
SIGLEC12 | ENSG00000254521.7 | transcript | ENST00000291707.8 | protein_coding | 1/8 | 263/2269 | 196/1788 | 66/595 | chr19 | TogoVar | ||
SIGLEC12_chr19_51486227_51506800 | 51501649 | G | A | stop_gained | HIGH | HG00642.hp1 HG00733.hp2 HG00738.hp1 others(50): Show |
a0003 | a0003c0006a0003c0007a0003c0009others(12): Show | a0003c0006t0001a0003c0006t0004a0003c0007t0002others(15): Show | a0003c0006t0001g0153a0003c0006t0001g0156a0003c0006t0001g0157others(29): Show | 53 | 432 | 0.1227 | 0 | c.85C others(2): Show |
p.Gln others(3): Show |
SIGLEC12 | ENSG00000254521.7 | transcript | ENST00000291707.8 | protein_coding | 1/8 | 152/2269 | 85/1788 | 29/595 | chr19 | TogoVar | ||
SLAIN1_chr13_77692687_77769229 | 77698132 | T | TGG | frameshift_variant | HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(296): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(279): Show | 299 | 300 | 0.9967 | 2 | c.220 others(9): Show |
p.Leu others(4): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 1/7 | 449/3009 | 222/1773 | 74/590 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |
SLAIN1_chr13_77692687_77769229 | 77698141 | G | GC | frameshift_variant | HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(296): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(279): Show | 299 | 300 | 0.9967 | 1 | c.230 others(4): Show |
p.Leu others(4): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 1/7 | 458/3009 | 231/1773 | 77/590 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |