view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | a0001c0002t0001a0001c0005t0001a0001c0008t0001others(10): Show | a0001c0002t0001g0000 a0001c0005t0001g0000 a0001c0008t0001g0000 others(10): Show |
238 | 438 | 0.5434 | -19 | c.248 others(26): Show |
p.Ile others(4): Show |
OR4L1 | ENSG00000176246.1 | transcript | ENST00000315683.1 | protein_coding | 1/1 | 248/939 | 248/939 | 83/312 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||
OR4X1_chr11_48258861_48269778 | 48264679 | T | A | stop_gained | HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(223): Show |
a0002a0003a0005others(1): Show | a0002c0002a0002c0004a0002c0005others(7): Show | a0002c0002t0001a0002c0004t0001a0002c0005t0001others(7): Show | a0002c0002t0001g0000 a0002c0004t0001g0000 a0002c0005t0001g0000 others(7): Show |
226 | 400 | 0.5650 | 0 | c.819 others(3): Show |
p.Tyr others(4): Show |
OR4X1 | ENSG00000176567.1 | transcript | ENST00000320048.1 | protein_coding | 1/1 | 819/918 | 819/918 | 273/305 | chr11 | TogoVar | |||
OR51A4_chr11_4937831_4952605 | 4946925 | TCATGCAA others(5673): Show |
T | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(134): Show |
a0001a0009 | a0001c0001a0009c0010 | a0001c0001t0001a0001c0001t0007a0001c0001t0013others(8): Show | a0001c0001t0001g0001 a0001c0001t0007g0008 a0001c0001t0013g0015 others(8): Show |
137 | 434 | 0.3157 | -5680 | c.-51 others(9): Show |
OR51A4 | ENSG00000205497.5 | transcript | ENST00000641898.1 | protein_coding | 1/2 | 298/4393 | chr11 | TogoVar | ||||||
OR51F1_chr11_4763979_4774938 | 4769643 | CG | C | frameshift_variant | HIGH | HG00639.hp1 HG00735.hp2 HG00738.hp2 others(62): Show |
a0002 | a0002c0003a0002c0004a0002c0005others(8): Show | a0002c0003t0001a0002c0004t0001a0002c0005t0001others(8): Show | a0002c0003t0001g0000 a0002c0004t0001g0000 a0002c0005t0001g0000 others(8): Show |
65 | 340 | 0.1912 | -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 | |||
OR52I1_chr11_4589039_4600013 | 4595011 | T | C | stop_lost others(1): Show |
HIGH | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 396 | 0.0025 | 0 | c.973 others(3): Show |
p.Ter others(11): Show |
OR52I1 | ENSG00000232268.8 | transcript | ENST00000530443.4 | protein_coding | 1/1 | 973/975 | 973/975 | 325/324 | chr11 | TogoVar | |||
OR52J3_chr11_5041526_5052461 | 5047432 | C | T | stop_gained | HIGH | HG00639.hp1 HG00642.hp1 HG00642.hp2 others(46): Show |
a0003a0005a0008 | a0003c0003a0005c0005a0008c0015 | a0003c0003t0001a0005c0005t0001a0008c0015t0001 | a0003c0003t0001g0000 a0005c0005t0001g0000 a0008c0015t0001g0000 |
49 | 446 | 0.1099 | 0 | c.907 others(3): Show |
p.Arg others(4): Show |
OR52J3 | ENSG00000205495.1 | transcript | ENST00000380370.1 | protein_coding | 1/1 | 907/936 | 907/936 | 303/311 | 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 | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(2): Show | a0001c0001t0001g0000 a0001c0003t0001g0000 a0001c0005t0001g0000 others(2): Show |
303 | 430 | 0.7047 | 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 | |||
OR5K3_chr3_98385666_98396631 | 98391562 | G | GA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(89): Show |
a0002 | a0002c0002a0002c0009 | a0002c0002t0001a0002c0009t0001 | a0002c0002t0001g0000 a0002c0009t0001g0000 |
92 | 470 | 0.1957 | 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 |
a0002a0007 | a0002c0002a0007c0009 | a0002c0002t0001a0007c0009t0001 | a0002c0002t0001g0000 a0007c0009t0001g0000 |
103 | 450 | 0.2289 | -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 | ||
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 | a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 others(44): Show |
172 | 472 | 0.3644 | 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 | ||
OR6C74_chr12_55239609_55261625 | 55247471 | C | T | stop_gained | HIGH | HG00099.hp1 HG00558.hp2 HG00597.hp1 others(71): Show |
a0002a0006 | a0002c0002a0002c0003a0002c0005others(2): Show | a0002c0002t0006a0002c0002t0009a0002c0002t0013others(14): Show | a0002c0002t0006g0004 a0002c0002t0009g0005 a0002c0002t0013g0007 others(14): Show |
74 | 338 | 0.2189 | 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 | |||
OR6C76_chr12_55421254_55432192 | 55427174 | CA | C | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp2 HG00741.hp2 others(67): Show |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0001a0003c0004t0001 | a0002c0002t0001g0000 a0003c0004t0001g0000 |
70 | 435 | 0.1609 | -1 | c.933 others(4): Show |
p.Lys others(5): Show |
OR6C76 | ENSG00000185821.3 | transcript | ENST00000328314.3 | protein_coding | 1/1 | 933/939 | 933/939 | 311/312 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
OR8K1_chr11_56341039_56351998 | 56346040 | T | C | start_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(347): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(8): Show | a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0004t0001g0000 others(8): Show |
350 | 436 | 0.8028 | 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(7598): Show |
stop_gained others(1): Show |
HIGH | HG00639.hp1 HG00738.hp2 HG00741.hp1 others(18): Show |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0000 | 21 | 63 | 0.3333 | 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 | ||
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 | a0001c0001t0001a0001c0013t0001 | a0001c0001t0001g0000 a0001c0013t0001g0000 |
130 | 172 | 0.7558 | 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(215): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(196): Show |
218 | 360 | 0.6056 | -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 | |||
PABPN1L_chr16_88858333_88871660 | 88866605 | A | G | start_lost | HIGH | HG01106.hp2 | a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0040 | 1 | 450 | 0.0022 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
PABPN1L | ENSG00000205022.9 | transcript | ENST00000419291.7 | protein_coding | 1/7 | 56/1314 | 2/837 | 1/278 | chr16 | TogoVar | |||
PCDHA8_chr5_140836187_141017347 | 140842552 | AGCGCCCT others(16784): Show |
A | frameshift_variant others(3): Show |
HIGH | HG01106.hp1 HG01346.hp2 HG01978.hp1 others(12): Show |
a0003a0006a0012 | a0003c0003a0006c0006a0012c0010 | a0003c0003t0001a0006c0006t0001a0012c0010t0001 | a0003c0003t0001g0002 a0003c0003t0001g0006 a0003c0003t0001g0007 others(12): Show |
15 | 256 | 0.0586 | -16791 | c.123 others(15): Show |
p.Ser others(5): Show |
PCDHA8 | ENSG00000204962.6 | transcript | ENST00000531613.2 | protein_coding | 1/4 | 1367/5398 | 1232/2853 | 411/950 | chr5 | TogoVar | |||
PDLIM2_chr8_22575475_22599298 | 22593765 | A | AC | frameshift_variant | HIGH | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(39): Show |
a0002a0005a0009others(1): Show | a0002c0003a0002c0004a0002c0018others(4): Show | a0002c0003t0001a0002c0003t0002a0002c0004t0001others(6): Show | a0002c0003t0001g0005 a0002c0003t0001g0041 a0002c0003t0001g0056 others(37): Show |
42 | 378 | 0.1111 | 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 | ||
PGPEP1L_chr15_98963229_99012792 | 98968575 | A | AC | frameshift_variant | HIGH | HG00280.hp2 HG00423.hp1 HG00438.hp2 others(165): Show |
a0002 | a0002c0002a0002c0005a0002c0010 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(16): Show | a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0004 others(158): Show |
168 | 396 | 0.4242 | 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 | |||
PLA2G2C_chr1_20158055_20191518 | 20175089 | G | A | stop_gained | HIGH | HG00323.hp1 HG00609.hp2 HG00621.hp2 others(81): Show |
a0003 | a0003c0003a0003c0006 | a0003c0003t0001a0003c0003t0002a0003c0006t0001 | a0003c0003t0001g0002 a0003c0003t0001g0016 a0003c0003t0001g0025 others(57): Show |
84 | 406 | 0.2069 | 0 | c.97C others(2): Show |
p.Arg others(3): Show |
PLA2G2C | ENSG00000187980.7 | transcript | ENST00000679259.1 | protein_coding | 3/5 | 332/1621 | 97/450 | 33/149 | chr1 | TogoVar | |||
PLAAT1_chr3_193236222_193275855 | 193255790 | G | A | splice_donor_variant others(1): Show |
HIGH | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 396 | 0.0025 | 0 | c.139 others(5): Show |
PLAAT1 | ENSG00000127252.7 | transcript | ENST00000264735.4 | protein_coding | 2/3 | chr3 | TogoVar | |||||||
PLEKHA2_chr8_38896346_38978912 | 38901439 | C | CG | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(333): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0014 others(330): Show |
336 | 372 | 0.9032 | 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 | a0004c0004t0063g0311 a0005c0006t0025g0047 a0005c0006t0025g0310 others(2): Show |
6 | 428 | 0.0140 | 0 | c.569 others(5): Show |
PLK5 | ENSG00000185988.15 | transcript | ENST00000454744.7 | protein_coding | 11/13 | chr19 | TogoVar | |||||||
PLPP1_chr5_55419854_55539964 | 55475403 | G | A | stop_gained | HIGH | HG01106.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0068 | 1 | 292 | 0.0034 | 0 | c.106 others(3): Show |
p.Arg others(3): Show |
PLPP1 | ENSG00000067113.17 | transcript | ENST00000307259.9 | protein_coding | 2/6 | 441/1542 | 106/855 | 36/284 | chr5 | TogoVar | |||
POLR3B_chr12_106352748_106515198 | 106427179 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00642.hp1 others(55): Show |
a0001a0004 | a0001c0001a0001c0011a0004c0016 | a0001c0001t0001a0001c0001t0009a0001c0011t0001others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(55): Show |
58 | 158 | 0.3671 | 1 | c.110 others(7): Show |
POLR3B | ENSG00000013503.10 | transcript | ENST00000228347.9 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
POU3F2_chr6_98829574_98844458 | 98835104 | C | CG | frameshift_variant | HIGH | HG00408.hp1 HG00597.hp1 HG00597.hp2 others(44): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(7): Show | a0002c0002t0001g0000 a0002c0002t0002g0000 a0002c0002t0004g0000 others(7): Show |
47 | 433 | 0.1085 | 1 | c.239 others(4): Show |
p.Gly others(4): Show |
POU3F2 | ENSG00000184486.10 | transcript | ENST00000328345.8 | protein_coding | 1/1 | 540/4885 | 240/1332 | 80/443 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
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 | a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0006 others(80): Show |
88 | 380 | 0.2316 | 0 | c.-70 others(5): Show |
PPIG | ENSG00000138398.17 | transcript | ENST00000260970.8 | protein_coding | 1/13 | chr2 | TogoVar | |||||||
PRR23D2_chr8_7773591_7786413 | 7779210 | AC | A | frameshift_variant | HIGH | HG00438.hp2 HG00621.hp2 HG00673.hp2 others(19): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0004a0002c0002t0007others(2): Show | a0002c0002t0002g0006 a0002c0002t0002g0008 a0002c0002t0002g0011 others(7): Show |
22 | 122 | 0.1803 | -1 | c.790 others(4): Show |
p.Val others(5): Show |
PRR23D2 | ENSG00000255378.1 | transcript | ENST00000528972.1 | protein_coding | 4/4 | 967/1587 | 790/840 | 264/279 | chr8 | TogoVar | |||
PRSS48_chr4_151272161_151296862 | 151279866 | G | GCAGGT | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(86): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002 a0003c0003t0001g0012 a0003c0003t0001g0013 others(20): Show |
89 | 426 | 0.2089 | 5 | c.127 others(12): Show |
p.Ser others(4): Show |
PRSS48 | ENSG00000189099.12 | transcript | ENST00000455694.7 | protein_coding | 2/5 | 144/1408 | 132/987 | 44/328 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
PRSS48_chr4_151272161_151296862 | 151291451 | T | G | stop_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(321): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0002others(6): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0011 others(98): Show |
324 | 426 | 0.7606 | 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(372): Show |
a0001a0005a0008others(1): Show | a0001c0001a0001c0002a0001c0004others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(25): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(188): Show |
375 | 414 | 0.9058 | 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 | |||
PSORS1C1_chr6_31109800_31145092 | 31138723 | T | TC | frameshift_variant | HIGH | HG00423.hp1 HG00733.hp2 HG00735.hp1 others(54): Show |
a0004a0006 | a0004c0005a0006c0006a0006c0013 | a0004c0005t0001a0004c0005t0003a0004c0005t0005others(4): Show | a0004c0005t0001g0088 a0004c0005t0001g0194 a0004c0005t0001g0204 others(25): Show |
57 | 414 | 0.1377 | 1 | c.118 others(4): Show |
p.His others(4): Show |
PSORS1C1 | ENSG00000204540.11 | transcript | ENST00000259881.10 | protein_coding | 5/6 | 439/939 | 119/459 | 40/152 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
PTPN23_chr3_47376021_47418435 | 47410831 | A | AC | frameshift_variant | HIGH | HG00140.hp2 HG00597.hp1 HG00738.hp2 others(33): Show |
a0005a0006 | a0005c0007a0005c0010a0005c0028others(6): Show | a0005c0007t0001a0005c0010t0001a0005c0028t0001others(6): Show | a0005c0007t0001g0001 a0005c0007t0001g0008 a0005c0007t0001g0016 others(31): Show |
36 | 329 | 0.1094 | 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 | a0002c0004a0002c0008a0002c0009others(17): Show | a0002c0004t0001a0002c0008t0001a0002c0008t0003others(18): Show | a0002c0004t0001g0001 a0002c0004t0001g0002 a0002c0004t0001g0012 others(118): Show |
135 | 330 | 0.4091 | 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 | a0001c0001t0002g0010 a0001c0001t0002g0098 a0001c0001t0002g0116 others(187): Show |
253 | 388 | 0.6521 | -1 | c.182 others(7): Show |
PYGL | ENSG00000100504.17 | transcript | ENST00000216392.8 | protein_coding | 15/19 | chr14 | TogoVar | |||||||
RECQL5_chr17_75621854_75672154 | 75630838 | C | CTG | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(143): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0021others(6): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0001others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(111): Show |
146 | 375 | 0.3893 | 2 | c.158 others(15): Show |
RECQL5 | ENSG00000108469.15 | transcript | ENST00000317905.10 | protein_coding | 11/19 | chr17 | TogoVar | |||||||
RFPL4AL1_chr19_55764118_55778420 | 55772724 | G | GCCCTGTG others(20002): Show |
frameshift_variant others(1): Show |
HIGH | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 277 | 0.0036 | 20009 | c.515 others(20016): Show |
p.Asn others(5): Show |
RFPL4AL1 | ENSG00000229292.2 | transcript | ENST00000341750.5 | protein_coding | 3/3 | 583/1172 | 516/864 | 172/287 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
RHBG_chr1_156364211_156390219 | 156384556 | T | TC | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(228): Show |
a0002a0003a0005others(7): Show | a0002c0002a0002c0008a0002c0019others(16): Show | a0002c0002t0001a0002c0008t0001a0002c0019t0001others(16): Show | a0002c0002t0001g0003 a0002c0002t0001g0011 a0002c0002t0001g0014 others(130): Show |
231 | 436 | 0.5298 | 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 | ||
RHD_chr1_25267509_25335445 | 25300925 | T | TCTTACTG others(30): Show |
frameshift_variant | HIGH | HG01106.hp2 | a0007 | a0007c0008 | a0007c0008t0017 | a0007c0008t0017g0203 | 1 | 212 | 0.0047 | 37 | c.487 others(47): Show |
p.Met others(5): Show |
RHD | ENSG00000187010.21 | transcript | ENST00000328664.9 | protein_coding | 4/10 | 544/2814 | 505/1254 | 169/417 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
RHD_chr1_25267509_25335445 | 25303327 | T | G | stop_gained | HIGH | HG01106.hp2 | a0007 | a0007c0008 | a0007c0008t0017 | a0007c0008t0017g0203 | 1 | 212 | 0.0047 | 0 | c.807 others(3): Show |
p.Tyr others(4): Show |
RHD | ENSG00000187010.21 | transcript | ENST00000328664.9 | protein_coding | 6/10 | 846/2814 | 807/1254 | 269/417 | chr1 | TogoVar | |||
RNF133_chr7_122692735_122704117 | 122698916 | C | T | start_lost | HIGH | HG00280.hp1 HG00738.hp1 HG01069.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 6 | 446 | 0.0135 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
RNF133 | ENSG00000188050.3 | transcript | ENST00000340112.3 | protein_coding | 1/1 | 202/1383 | 3/1131 | 1/376 | chr7 | TogoVar | |||
RP1L1_chr8_10601349_10660143 | 10608277 | G | A | stop_gained | HIGH | HG01106.hp1 HG01978.hp2 |
a0036 | a0036c0036 | a0036c0036t0003 | a0036c0036t0003g0307 a0036c0036t0003g0316 |
2 | 412 | 0.0049 | 0 | c.582 others(4): Show |
p.Gln others(5): Show |
RP1L1 | ENSG00000183638.6 | transcript | ENST00000382483.4 | protein_coding | 4/4 | 6086/8014 | 5821/7203 | 1941/2400 | chr8 | TogoVar | |||
RXFP2_chr13_31734526_31808389 | 31786554 | T | TA | splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp1 HG00609.hp1 HG00673.hp2 others(50): Show |
a0001a0002a0008 | a0001c0013a0002c0003a0008c0007 | a0001c0013t0002a0002c0003t0003a0008c0007t0003 | a0001c0013t0002g0014 a0002c0003t0003g0023 a0002c0003t0003g0024 others(50): Show |
53 | 179 | 0.2961 | 1 | c.100 others(7): Show |
RXFP2 | ENSG00000133105.8 | transcript | ENST00000298386.7 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RXFP2_chr13_31734526_31808389 | 31786554 | T | TAA | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00639.hp2 others(98): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0012a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(95): Show |
101 | 227 | 0.4449 | 2 | c.100 others(15): Show |
RXFP2 | ENSG00000133105.8 | transcript | ENST00000298386.7 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SIGLEC5_chr19_51605960_51635401 | 51629488 | G | GGGGTCCA others(16417): Show |
frameshift_variant others(1): Show |
HIGH | HG01106.hp1 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0237 | 1 | 408 | 0.0025 | 16424 | c.569 others(16431): Show |
p.Met others(5): Show |
SIGLEC5 | ENSG00000268500.7 | transcript | ENST00000683636.1 | protein_coding | 3/9 | 635/2993 | 569/1656 | 190/551 | chr19 | TogoVar | |||
SIRPB1_chr20_1556385_1625009 | 1572827 | AAGGTCAA others(33021): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG00140.hp1 HG01106.hp1 HG01123.hp2 others(14): Show |
a0003 | a0003c0003a0003c0018 | a0003c0003t0005a0003c0003t0020a0003c0018t0018 | a0003c0003t0005g0007 a0003c0003t0005g0046 a0003c0003t0005g0047 others(6): Show |
17 | 362 | 0.0470 | -33028 | c.76+ others(16): Show |
SIRPB1 | ENSG00000101307.16 | transcript | ENST00000381605.9 | protein_coding | 2/6 | chr20 | TogoVar | |||||||
SLC22A10_chr11_63284903_63316783 | 63290453 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(159): Show |
a0002a0011 | a0002c0002a0002c0009a0002c0012others(4): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0007others(7): Show | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0005 others(78): Show |
162 | 400 | 0.4050 | 0 | c.288 others(3): Show |
p.Trp others(3): Show |
SLC22A10 | ENSG00000184999.13 | transcript | ENST00000332793.11 | protein_coding | 1/10 | 551/2638 | 288/1626 | 96/541 | chr11 | TogoVar | |||
SLC22A24_chr11_63074940_63149221 | 63081015 | A | C | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(264): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0005a0001c0007others(11): Show | a0001c0001t0001a0001c0005t0001a0001c0007t0001others(13): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 others(255): Show |
267 | 364 | 0.7335 | 0 | c.150 others(4): Show |
p.Tyr others(4): Show |
SLC22A24 | ENSG00000197658.9 | transcript | ENST00000612278.4 | protein_coding | 9/10 | 1945/2101 | 1503/1659 | 501/552 | chr11 | TogoVar | |||
SLC22A24_chr11_63074940_63149221 | 63143377 | C | T | splice_donor_variant others(1): Show |
HIGH | HG00558.hp2 HG00597.hp2 HG00642.hp1 others(83): Show |
a0003a0005a0009others(2): Show | a0003c0003a0003c0008a0005c0006others(4): Show | a0003c0003t0002a0003c0003t0003a0003c0003t0005others(7): Show | a0003c0003t0002g0003 a0003c0003t0002g0004 a0003c0003t0002g0026 others(77): Show |
86 | 364 | 0.2363 | 0 | c.402 others(5): Show |
SLC22A24 | ENSG00000197658.9 | transcript | ENST00000612278.4 | protein_coding | 1/9 | chr11 | TogoVar |