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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCDHB7_chr5_141167644_141181383 | 141174536 | C | CGGCTCCG others(10397): Show |
stop_gained others(1): Show |
HIGH | NA18968.hp2 NA19011.hp2 |
a0015 | a0015c0020 | a0015c0020t0001 | a0015c0020t0001g0000 | 2 | 411 | 0.0049 | 10404 | c.170 others(10413): Show |
p.Asn others(10417): Show |
PCDHB7 | ENSG00000113212.7 | transcript | ENST00000231137.6 | protein_coding | 1/1 | 1894/3740 | 1702/2382 | 568/793 | 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 | ||
PITRM1_chr10_3132728_3177782 | 3166375 | T | TGCACGCT others(18): Show |
frameshift_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(276): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0001c0005others(43): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0002others(44): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(185): Show |
279 | 442 | 0.6312 | 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 | |||
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 | a0001c0001t0001g0050 a0001c0001t0001g0147 a0001c0001t0001g0157 others(84): Show |
87 | 306 | 0.2843 | 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(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 | ||||||
PLK4_chr4_127875893_127904224 | 127891075 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00423.hp1 HG00438.hp2 HG00544.hp1 others(76): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0003t0001others(4): Show | a0001c0001t0001g0087 a0001c0001t0001g0097 a0001c0001t0001g0112 others(43): Show |
79 | 357 | 0.2213 | 1 | c.183 others(7): Show |
PLK4 | ENSG00000142731.11 | transcript | ENST00000270861.10 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PMIS2_chr19_35581173_35592296 | 35586327 | CT | C | frameshift_variant | HIGH | HG00408.hp1 HG00423.hp1 HG00544.hp1 others(69): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002 a0003c0003t0001g0003 a0003c0003t0001g0009 others(2): Show |
72 | 442 | 0.1629 | -1 | c.69d others(3): Show |
p.Thr others(4): Show |
PMIS2 | ENSG00000283758.2 | transcript | ENST00000640449.2 | protein_coding | 1/2 | 156/690 | 69/453 | 23/150 | chr19 | TogoVar | |||
POLL_chr10_101573882_101593257 | 101580230 | CAGAGATG others(17): Show |
C | frameshift_variant others(3): Show |
HIGH | NA18968.hp1 | a0008 | a0008c0007 | a0008c0007t0001 | a0008c0007t0001g0025 | 1 | 392 | 0.0026 | -24 | c.135 others(36): Show |
p.Gln others(5): Show |
POLL | ENSG00000166169.17 | transcript | ENST00000370162.8 | protein_coding | 8/9 | 1357/1728 | 453/575 | chr10 | TogoVar | ||||
POLL_chr10_101573882_101593257 | 101580412 | T | TACCTGGG others(11): Show |
stop_gained others(1): Show |
HIGH | NA18968.hp1 | a0008 | a0008c0007 | a0008c0007t0001 | a0008c0007t0001g0025 | 1 | 392 | 0.0026 | 18 | c.119 others(27): Show |
p.Gln others(30): Show |
POLL | ENSG00000166169.17 | transcript | ENST00000370162.8 | protein_coding | 8/9 | 1680/2781 | 1198/1728 | 400/575 | chr10 | TogoVar | |||
PRAM1_chr19_8485056_8507640 | 8502591 | T | C | start_lost | HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(125): Show |
a0002a0003a0004others(23): Show | a0002c0002a0003c0003a0004c0005others(46): Show | a0002c0002t0002a0003c0003t0002a0004c0005t0002others(47): Show | a0002c0002t0002g0008 a0002c0002t0002g0053 a0002c0002t0002g0054 others(96): Show |
128 | 420 | 0.3048 | 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 | |||
PRAMEF33_chr1_13298539_13313907 | 13307108 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(242): Show |
a0001a0003a0023others(2): Show | a0001c0001a0001c0003a0001c0005others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(36): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0034 others(62): Show |
245 | 416 | 0.5889 | 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 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0004 a0003c0003t0001g0016 a0003c0003t0001g0066 others(1): Show |
17 | 315 | 0.0540 | 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 | |||
PRB3_chr12_11260914_11274707 | 11267400 | A | AG | frameshift_variant | HIGH | HG00544.hp1 HG00597.hp1 HG00597.hp2 others(77): Show |
a0003a0005a0006others(5): Show | a0003c0003a0003c0028a0005c0005others(7): Show | a0003c0003t0002a0003c0028t0002a0005c0005t0002others(7): Show | a0003c0003t0002g0004 a0003c0003t0002g0013 a0003c0003t0002g0022 others(12): Show |
80 | 442 | 0.1810 | 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 | |||
PRR20A_chr13_57135918_57148939 | 57142529 | AC | A | frameshift_variant | HIGH | HG00609.hp1 HG00621.hp2 HG00673.hp2 others(30): Show |
a0002a0010 | a0002c0004a0002c0007a0002c0015others(2): Show | a0002c0004t0004a0002c0004t0015a0002c0004t0016others(9): Show | a0002c0004t0004g0003 a0002c0004t0004g0034 a0002c0004t0015g0003 others(10): Show |
33 | 328 | 0.1006 | -1 | c.209 others(4): Show |
p.Pro others(4): Show |
PRR20A | ENSG00000204919.1 | transcript | ENST00000377931.1 | protein_coding | 3/3 | 442/1847 | 209/666 | 70/221 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||
PRR23D1_chr8_7534627_7547450 | 7541827 | AG | A | frameshift_variant | HIGH | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(57): Show |
a0002a0006a0008others(2): Show | a0002c0001a0006c0007a0008c0011others(2): Show | a0002c0001t0003a0002c0001t0004a0002c0001t0006others(8): Show | a0002c0001t0003g0001 a0002c0001t0003g0012 a0002c0001t0004g0001 others(11): Show |
60 | 166 | 0.3614 | -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 | ||
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 | a0001c0001t0002g0012 a0001c0001t0002g0141 a0001c0001t0002g0207 others(84): Show |
87 | 311 | 0.2797 | 1 | c.802 others(6): Show |
PTEN | ENSG00000171862.15 | transcript | ENST00000371953.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr10 | 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 | |||||||
PZP_chr12_9143840_9213395 | 9181030 | G | A | stop_gained | HIGH | HG00423.hp1 HG02074.hp1 HG02083.hp2 others(14): Show |
a0005 | a0005c0008a0005c0019 | a0005c0008t0001a0005c0019t0001 | a0005c0008t0001g0022 a0005c0008t0001g0023 a0005c0008t0001g0132 others(12): Show |
17 | 332 | 0.0512 | 0 | c.179 others(4): Show |
p.Gln others(4): Show |
PZP | ENSG00000126838.10 | transcript | ENST00000261336.7 | protein_coding | 15/36 | 1846/4635 | 1792/4449 | 598/1482 | chr12 | TogoVar | |||
RFX8_chr2_101392359_101480112 | 101422474 | T | G | splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp2 HG00544.hp2 HG00558.hp1 others(42): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0002a0004c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0109 others(36): Show |
45 | 350 | 0.1286 | 0 | c.73- others(4): Show |
RFX8 | ENSG00000196460.14 | transcript | ENST00000428343.6 | protein_coding | 2/11 | chr2 | 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 | ||||||
SCRN3_chr2_174390730_174434575 | 174427852 | TTCAAATT others(6): Show |
T | frameshift_variant | HIGH | HG00323.hp2 HG00558.hp1 HG00639.hp2 others(84): Show |
a0002a0009 | a0002c0002a0002c0004a0009c0008 | a0002c0002t0002a0002c0002t0004a0002c0002t0012others(2): Show | a0002c0002t0002g0002 a0002c0002t0002g0010 a0002c0002t0002g0011 others(47): Show |
87 | 362 | 0.2403 | -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 | ||
SERPINB11_chr18_63697960_63728893 | 63712604 | G | T | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(200): Show |
a0001a0004a0013 | a0001c0002a0001c0005a0001c0009others(15): Show | a0001c0002t0001a0001c0005t0002a0001c0005t0006others(18): Show | a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0014 others(79): Show |
203 | 420 | 0.4833 | 0 | c.268 others(3): Show |
p.Glu others(3): Show |
SERPINB11 | ENSG00000206072.13 | transcript | ENST00000544088.6 | protein_coding | 4/8 | 330/1735 | 268/1179 | 90/392 | chr18 | TogoVar | |||
SGCA_chr17_50161005_50180928 | 50169074 | ACTTCTAT others(49): Show |
A | splice_acceptor_variant others(3): Show |
HIGH | NA18968.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0084 | 1 | 414 | 0.0024 | -56 | c.585 others(66): Show |
p.Val others(13): Show |
SGCA | ENSG00000108823.17 | transcript | ENST00000262018.8 | protein_coding | 6/10 | 585/1164 | 195/387 | chr17 | TogoVar | ||||
SLC27A1_chr19_17465524_17511168 | 17500745 | T | TGTACTTC others(12): Show |
frameshift_variant others(1): Show |
HIGH | NA18968.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0109 | 1 | 348 | 0.0029 | 19 | c.150 others(28): Show |
p.Gly others(5): Show |
SLC27A1 | ENSG00000130304.17 | transcript | ENST00000252595.12 | protein_coding | 10/12 | 1543/3514 | 1526/1941 | 509/646 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
SLC27A1_chr19_17465524_17511168 | 17501343 | C | A | stop_gained | HIGH | NA18968.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0109 | 1 | 348 | 0.0029 | 0 | c.170 others(4): Show |
p.Tyr others(4): Show |
SLC27A1 | ENSG00000130304.17 | transcript | ENST00000252595.12 | protein_coding | 11/12 | 1724/3514 | 1707/1941 | 569/646 | chr19 | TogoVar | |||
SLC4A9_chr5_140355194_140380141 | 140360371 | C | CAAGGAAC others(3): Show |
frameshift_variant | HIGH | NA18968.hp2 | a0015 | a0015c0014 | a0015c0014t0001 | a0015c0014t0001g0002 | 1 | 394 | 0.0025 | 10 | c.136 others(17): Show |
p.Gly others(4): Show |
SLC4A9 | ENSG00000113073.15 | transcript | ENST00000506757.7 | protein_coding | 1/22 | 189/3283 | 146/2880 | 49/959 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
SLFN12L_chr17_35459254_35542678 | 35479822 | AG | A | frameshift_variant | HIGH | HG00597.hp1 HG01106.hp1 HG01891.hp1 others(31): Show |
a0005 | a0005c0006a0005c0019 | a0005c0006t0005a0005c0006t0022a0005c0006t0035others(9): Show | a0005c0006t0005g0002 a0005c0006t0005g0061 a0005c0006t0005g0124 others(30): Show |
34 | 358 | 0.0950 | -1 | c.459 others(4): Show |
p.Leu others(5): Show |
SLFN12L | ENSG00000205045.12 | transcript | ENST00000628453.4 | protein_coding | 3/5 | 1170/13219 | 459/1839 | 153/612 | chr17 | TogoVar | |||
SLFNL1_chr1_41010597_41026725 | 41017902 | A | AC | frameshift_variant | HIGH | HG00544.hp2 HG00673.hp1 HG00673.hp2 others(57): Show |
a0002a0005a0007others(3): Show | a0002c0002a0002c0022a0005c0007others(6): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(11): Show | a0002c0002t0001g0007 a0002c0002t0001g0022 a0002c0002t0001g0029 others(24): Show |
60 | 428 | 0.1402 | 1 | c.689 others(4): Show |
p.Ser others(5): Show |
SLFNL1 | ENSG00000171790.16 | transcript | ENST00000302946.13 | protein_coding | 4/6 | 917/1961 | 689/1224 | 230/407 | chr1 | TogoVar | |||
SMAD5_chr5_136127845_136187733 | 136147819 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(137): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(18): Show | a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0010 others(103): Show |
140 | 282 | 0.4965 | 1 | c.-24 others(7): Show |
SMAD5 | ENSG00000113658.18 | transcript | ENST00000545279.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPANXA2_chrX_141584708_141595762 | 141585342 | TGGACACT others(8179): Show |
T | transcript_ablation | HIGH | NA18968.hp1 NA18998.hp2 |
a0002 | a0002c0000 | a0002c0000t0000 | a0002c0000t0000g0000 | 2 | 185 | 0.0108 | -8186 | c.-44 others(11): Show |
p.0? | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 2/2 | chrX | TogoVar | ||||||
SURF2_chr9_133351550_133366158 | 133357790 | C | CG | frameshift_variant | HIGH | HG00741.hp1 HG01106.hp2 HG01496.hp1 others(12): Show |
a0003a0007 | a0003c0003a0003c0008a0007c0014 | a0003c0003t0001a0003c0008t0001a0007c0014t0001 | a0003c0003t0001g0001 a0003c0003t0001g0004 a0003c0003t0001g0042 others(2): Show |
15 | 445 | 0.0337 | 1 | c.315 others(4): Show |
p.Tyr others(5): Show |
SURF2 | ENSG00000148291.10 | transcript | ENST00000371964.5 | protein_coding | 3/6 | 359/833 | 316/771 | 106/256 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
TAF11L10_chr5_17592232_17602828 | 17597711 | TGGGTGCT others(724): Show |
T | start_lost others(1): Show |
HIGH | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(147): Show |
a0002 | a0002c0002a0002c0006a0002c0007 | a0002c0002t0001a0002c0006t0001a0002c0007t0001 | a0002c0002t0001g0000 a0002c0006t0001g0000 a0002c0007t0001g0000 |
150 | 352 | 0.4261 | -731 | c.-61 others(8): Show |
p.Met others(10): Show |
TAF11L10 | ENSG00000284356.1 | transcript | ENST00000638842.1 | protein_coding | 1/1 | 117/597 | 1/597 | 1/198 | chr5 | TogoVar | |||
TAP2_chr6_32820415_32843739 | 32828908 | A | G | stop_lost | HIGH | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(156): Show |
a0001a0002a0006others(9): Show | a0001c0001a0002c0002a0002c0006others(19): Show | a0001c0001t0024a0002c0002t0001a0002c0002t0003others(28): Show | a0001c0001t0024g0046 a0002c0002t0001g0001 a0002c0002t0001g0037 others(70): Show |
159 | 484 | 0.3285 | 0 | c.205 others(4): Show |
p.Ter others(11): Show |
TAP2 | ENSG00000204267.19 | transcript | ENST00000374897.4 | protein_coding | 12/12 | 2150/5643 | 2059/2061 | 687/686 | chr6 | TogoVar | |||
TBC1D3C_chr17_38052693_38073634 | 38062566 | C | G | splice_donor_variant others(1): Show |
HIGH | HG00544.hp2 HG02129.hp2 NA18968.hp1 |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0005c0009t0001 | a0001c0001t0001g0037 a0005c0009t0001g0035 a0005c0009t0001g0036 |
3 | 84 | 0.0357 | 0 | c.546 others(5): Show |
TBC1D3C | ENSG00000278299.6 | transcript | ENST00000622206.2 | protein_coding | 8/13 | chr17 | TogoVar | |||||||
TEX44_chr2_231587864_231599276 | 231593374 | TGAGA | T | frameshift_variant | HIGH | HG01256.hp1 NA18612.hp1 NA18968.hp1 others(6): Show |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0000 | 9 | 436 | 0.0206 | -4 | c.429 others(11): Show |
p.Arg others(5): Show |
TEX44 | ENSG00000177673.4 | transcript | ENST00000313965.4 | protein_coding | 1/1 | 517/1413 | 429/1188 | 143/395 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
TIGD6_chr5_149988118_150005654 | 149995316 | CT | C | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(189): Show |
a0001a0004a0009others(5): Show | a0001c0001a0001c0017a0004c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0026 others(26): Show |
192 | 434 | 0.4424 | -1 | c.103 others(5): Show |
p.Glu others(5): Show |
TIGD6 | ENSG00000164296.7 | transcript | ENST00000296736.4 | protein_coding | 2/2 | 1294/3493 | 1032/1566 | 344/521 | chr5 | TogoVar | |||
TMPRSS11A_chr4_67904395_67968493 | 67963391 | C | T | start_lost | HIGH | HG00280.hp2 HG00323.hp1 HG00544.hp1 others(97): Show |
a0002a0003 | a0002c0002a0002c0010a0002c0015others(7): Show | a0002c0002t0002a0002c0002t0011a0002c0002t0019others(13): Show | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0010 others(78): Show |
100 | 392 | 0.2551 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
TMPRSS11A | ENSG00000187054.16 | transcript | ENST00000508048.6 | protein_coding | 1/10 | 103/3304 | 3/1257 | 1/418 | chr4 | TogoVar | |||
TMPRSS3_chr21_42366890_42401052 | 42383199 | C | CTA | splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp1 HG00408.hp2 HG00621.hp2 others(99): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0003a0002c0007others(6): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0002others(16): Show | a0001c0001t0001g0251 a0002c0003t0001g0007 a0002c0003t0001g0011 others(80): Show |
102 | 470 | 0.2170 | 2 | c.617 others(13): Show |
TMPRSS3 | ENSG00000160183.17 | transcript | ENST00000644384.2 | protein_coding | 7/12 | chr21 | TogoVar | |||||||
TMPRSS4_chr11_118072078_118126890 | 118094815 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(127): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0108 a0001c0001t0002g0014 a0001c0001t0003g0026 others(116): Show |
130 | 404 | 0.3218 | 0 | c.4-1 others(3): Show |
TMPRSS4 | ENSG00000137648.19 | transcript | ENST00000437212.8 | protein_coding | 1/12 | chr11 | TogoVar | |||||||
TRIM51G_chr11_48970498_48988885 | 48978871 | C | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(270): Show |
a0001a0003a0005others(5): Show | a0001c0001a0001c0006a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0003others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(71): Show |
273 | 422 | 0.6469 | 0 | c.738 others(5): Show |
TRIM51G | ENSG00000220948.6 | transcript | ENST00000534741.3 | protein_coding | 4/6 | chr11 | TogoVar | |||||||
TUBA3E_chr2_130186745_130203439 | 130197356 | ACACACCT others(2467): Show |
A | exon_loss_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(174): Show |
a0001 | a0001c0002a0001c0005a0001c0011others(14): Show | a0001c0002t0002a0001c0005t0002a0001c0011t0002others(14): Show | a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0006 others(31): Show |
177 | 426 | 0.4155 | -2474 | c.-14 others(11): Show |
TUBA3E | ENSG00000152086.9 | transcript | ENST00000312988.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
UBR2_chr6_42559029_42698505 | 42644198 | T | TA | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp2 HG00544.hp1 HG00597.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0169 others(21): Show |
24 | 337 | 0.0712 | 1 | c.209 others(7): Show |
UBR2 | ENSG00000024048.11 | transcript | ENST00000372901.2 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
UBTFL1_chr11_90080950_90092131 | 90086720 | C | CT | frameshift_variant | HIGH | HG00323.hp1 HG00597.hp1 HG00639.hp2 others(62): Show |
a0002a0004a0005 | a0002c0002a0004c0003a0005c0005others(1): Show | a0002c0002t0001a0004c0003t0001a0005c0005t0001others(1): Show | a0002c0002t0001g0000 a0004c0003t0001g0000 a0005c0005t0001g0000 others(1): Show |
65 | 274 | 0.2372 | 1 | c.772 others(4): Show |
p.Trp others(5): Show |
UBTFL1 | ENSG00000255009.4 | transcript | ENST00000530464.2 | protein_coding | 1/1 | 773/1182 | 773/1182 | 258/393 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
UMAD1_chr7_7635752_7884223 | 7673310 | T | TAGCAGCA others(2): Show |
start_lost others(1): Show |
HIGH | HG01069.hp1 HG01891.hp1 HG02523.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0030a0001c0001t0047a0001c0001t0048others(2): Show | a0001c0001t0030g0243 a0001c0001t0030g0248 a0001c0001t0047g0183 others(3): Show |
6 | 45 | 0.1333 | 9 | c.-9_ others(14): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/4 | 134/2232 | 1/414 | 1/137 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||
USP17L18_chr4_9243630_9255222 | 9250076 | C | T | stop_gained | HIGH | NA18968.hp1 NA19078.hp2 |
a0055a0064 | a0055c0035a0064c0036 | a0055c0035t0001a0064c0036t0001 | a0055c0035t0001g0000 a0064c0036t0001g0000 |
2 | 210 | 0.0095 | 0 | c.144 others(4): Show |
p.Gln others(4): Show |
USP17L18 | ENSG00000250844.3 | transcript | ENST00000504209.1 | protein_coding | 1/1 | 1447/1593 | 1447/1593 | 483/530 | chr4 | TogoVar | |||
USP29_chr19_57114985_57136926 | 57131414 | C | A | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(403): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0003a0001c0005others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(35): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(223): Show |
406 | 414 | 0.9807 | 0 | c.273 others(4): Show |
p.Tyr others(4): Show |
USP29 | ENSG00000131864.11 | transcript | ENST00000254181.9 | protein_coding | 4/4 | 3251/3763 | 2739/2769 | 913/922 | chr19 | TogoVar | |||
UTF1_chr10_133225217_133236558 | 133230972 | A | AC | frameshift_variant | HIGH | HG01192.hp1 HG02056.hp1 HG02056.hp2 others(8): Show |
a0004a0005 | a0004c0005a0004c0009a0004c0015others(1): Show | a0004c0005t0002a0004c0005t0003a0004c0009t0001others(2): Show | a0004c0005t0002g0001 a0004c0005t0003g0001 a0004c0009t0001g0001 others(2): Show |
11 | 402 | 0.0274 | 1 | c.560 others(4): Show |
p.Leu others(5): Show |
UTF1 | ENSG00000171794.4 | transcript | ENST00000304477.3 | protein_coding | 2/2 | 633/1214 | 561/1026 | 187/341 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
VCAM1_chr1_100714742_100744045 | 100731323 | G | T | stop_gained | HIGH | NA18968.hp2 | a0011 | a0011c0015 | a0011c0015t0001 | a0011c0015t0001g0005 | 1 | 444 | 0.0023 | 0 | c.133 others(4): Show |
p.Glu others(4): Show |
VCAM1 | ENSG00000162692.12 | transcript | ENST00000294728.7 | protein_coding | 6/9 | 1449/3101 | 1330/2220 | 444/739 | chr1 | TogoVar | |||
VSIG10L2_chr11_125941044_125961319 | 125948513 | G | A | stop_gained | HIGH | HG00544.hp2 HG00597.hp1 HG00639.hp2 others(53): Show |
a0004a0019 | a0004c0004a0004c0008a0004c0023others(2): Show | a0004c0004t0001a0004c0008t0001a0004c0023t0001others(2): Show | a0004c0004t0001g0004 a0004c0004t0001g0009 a0004c0004t0001g0048 others(10): Show |
56 | 444 | 0.1261 | 0 | c.642 others(3): Show |
p.Trp others(4): Show |
VSIG10L2 | ENSG00000283703.3 | transcript | ENST00000686984.1 | protein_coding | 3/12 | 654/2799 | 642/2382 | 214/793 | chr11 | TogoVar |