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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SERPINA9_chr14_94457721_94481197 | 94469278 | AC | A | frameshift_variant | HIGH | HG02486.hp2 HG02723.hp2 HG02976.hp1 others(5): Show |
a0013a0015 | a0013c0012a0015c0017 | a0013c0012t0002a0015c0017t0002a0015c0017t0007 | a0013c0012t0002g0094a0013c0012t0002g0163a0013c0012t0002g0172others(4): Show | 8 | 466 | 0.0172 | -1 | c.562 others(4): Show |
p.Val others(5): Show |
SERPINA9 | ENSG00000170054.16 | transcript | ENST00000674397.2 | protein_coding | 2/5 | 641/1705 | 562/1254 | 188/417 | chr14 | TogoVar | ||
SERPINB11_chr18_63697960_63728893 | 63712604 | G | T | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(201): Show |
a0001a0004a0013 | a0001c0002a0001c0005a0001c0009others(16): Show | a0001c0002t0001a0001c0005t0002a0001c0005t0005others(18): Show | a0001c0002t0001g0001a0001c0002t0001g0010a0001c0002t0001g0014others(79): Show | 204 | 422 | 0.4834 | 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 | ||
SIGLEC11_chr19_49943985_49966172 | 49960562 | TAGAA | T | frameshift_variant | HIGH | HG00642.hp1 HG00733.hp1 HG00735.hp2 others(62): Show |
a0004a0007a0012others(3): Show | a0004c0004a0004c0008a0004c0015others(16): Show | a0004c0004t0001a0004c0004t0002a0004c0004t0005others(18): Show | a0004c0004t0001g0008a0004c0004t0001g0013a0004c0004t0001g0014others(33): Show | 65 | 452 | 0.1438 | -4 | c.446 others(11): Show |
p.Phe others(5): Show |
SIGLEC11 | ENSG00000161640.15 | transcript | ENST00000447370.6 | protein_coding | 2/11 | 540/3173 | 446/2097 | 149/698 | 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 | |
SLC22A10_chr11_63284903_63316783 | 63290453 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(160): Show |
a0002a0011 | a0002c0002a0002c0009a0002c0012others(4): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0007others(7): Show | a0002c0002t0002g0001a0002c0002t0002g0004a0002c0002t0002g0005others(95): Show | 163 | 402 | 0.4055 | 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(265): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0017a0002c0002others(14): Show | a0001c0001t0001a0001c0017t0001a0002c0002t0001others(16): Show | a0001c0001t0001g0096a0001c0001t0001g0097a0001c0001t0001g0098others(263): Show | 268 | 366 | 0.7322 | 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 |
a0003a0007a0013others(2): Show | a0003c0003a0003c0009a0007c0007others(4): Show | a0003c0003t0002a0003c0003t0003a0003c0003t0005others(7): Show | a0003c0003t0002g0001a0003c0003t0002g0002a0003c0003t0002g0022others(80): Show | 86 | 366 | 0.2350 | 0 | c.402 others(5): Show |
SLC22A24 | ENSG00000197658.9 | transcript | ENST00000612278.4 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
SLC22A25_chr11_63153437_63248599 | 63164075 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG02723.hp1 NA18906.hp2 |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0046 | a0002c0002t0004g0156a0002c0002t0046g0304 | 2 | 344 | 0.0058 | 0 | c.139 others(6): Show |
SLC22A25 | ENSG00000196600.13 | transcript | ENST00000306494.11 | protein_coding | 11/11 | chr11 | TogoVar | ||||||
SLC22A25_chr11_63153437_63248599 | 63228566 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG01106.hp1 HG02055.hp1 HG02109.hp2 others(27): Show |
a0002a0003a0004others(4): Show | a0002c0002a0003c0003a0004c0005others(4): Show | a0002c0002t0004a0002c0002t0007a0002c0002t0022others(16): Show | a0002c0002t0004g0156a0002c0002t0007g0157a0002c0002t0022g0303others(25): Show | 30 | 344 | 0.0872 | 0 | c.403 others(5): Show |
SLC22A25 | ENSG00000196600.13 | transcript | ENST00000306494.11 | protein_coding | 4/11 | chr11 | TogoVar | ||||||
SLC28A1_chr15_84879662_84950798 | 84886788 | G | A | splice_donor_variant others(1): Show |
HIGH | HG01884.hp2 HG02055.hp1 HG02257.hp2 others(9): Show |
a0001a0002a0010others(2): Show | a0001c0021a0001c0038a0002c0037others(3): Show | a0001c0021t0001a0001c0038t0001a0002c0037t0001others(3): Show | a0001c0021t0001g0259a0001c0021t0001g0263a0001c0021t0001g0264others(9): Show | 12 | 396 | 0.0303 | 0 | c.-17 others(5): Show |
SLC28A1 | ENSG00000156222.12 | transcript | ENST00000394573.6 | protein_coding | 2/18 | chr15 | TogoVar | ||||||
SLC35G6_chr17_7476446_7488496 | 7482961 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(314): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0009a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0005g0001others(13): Show | 317 | 412 | 0.7694 | 0 | c.977 others(3): Show |
p.Trp others(4): Show |
SLC35G6 | ENSG00000259224.3 | transcript | ENST00000412468.4 | protein_coding | 2/2 | 1048/1583 | 977/1017 | 326/338 | chr17 | TogoVar | ||
SLC52A2_chr8_144353613_144366272 | 144360065 | T | TC | frameshift_variant | HIGH | HG00597.hp2 HG01192.hp2 HG01891.hp2 others(10): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0005 | a0002c0002t0001g0001a0002c0002t0001g0002a0002c0002t0005g0001 | 13 | 386 | 0.0337 | 1 | c.576 others(4): Show |
p.Ala others(5): Show |
SLC52A2 | ENSG00000185803.12 | transcript | ENST00000643944.2 | protein_coding | 3/5 | 1140/2158 | 577/1338 | 193/445 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |
SLC6A18_chr5_1220381_1251189 | 1240642 | C | G | stop_gained | HIGH | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(178): Show |
a0001a0006a0007others(4): Show | a0001c0002a0001c0005a0001c0009others(16): Show | a0001c0002t0001a0001c0002t0002a0001c0005t0001others(22): Show | a0001c0002t0001g0004a0001c0002t0001g0018a0001c0002t0001g0019others(157): Show | 181 | 456 | 0.3969 | 0 | c.957 others(3): Show |
p.Tyr others(4): Show |
SLC6A18 | ENSG00000164363.10 | transcript | ENST00000324642.4 | protein_coding | 7/12 | 1054/2095 | 957/1887 | 319/628 | chr5 | 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 | a0001c0001t0002g0007a0001c0001t0002g0008a0001c0001t0002g0009others(108): Show | 140 | 294 | 0.4762 | 1 | c.-24 others(7): Show |
SMAD5 | ENSG00000113658.18 | transcript | ENST00000545279.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SNX27_chr1_151607050_151704080 | 151692406 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(82): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(48): Show | a0001c0001t0001g0113a0001c0001t0001g0117a0001c0001t0001g0118others(82): Show | 85 | 366 | 0.2322 | 1 | c.124 others(7): Show |
SNX27 | ENSG00000143376.14 | transcript | ENST00000458013.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SPANXB1_chrX_140997594_141008706 | 141002812 | C | CGAGGGTG others(60020): Show |
stop_gained others(1): Show |
HIGH | HG02723.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0024 | 1 | 301 | 0.0033 | 60027 | c.255 others(60034): Show |
p.Pro others(60038): Show |
SPANXB1 | ENSG00000227234.2 | transcript | ENST00000449283.2 | protein_coding | 2/2 | 356/466 | 256/312 | 86/103 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
SPATC1L_chr21_46156160_46189459 | 46183501 | GGGAGACC others(309): Show |
G | splice_acceptor_variant others(3): Show |
HIGH | HG00639.hp1 HG01433.hp1 HG01517.hp1 others(11): Show |
a0001a0004a0005others(1): Show | a0001c0001a0004c0005a0005c0006others(1): Show | a0001c0001t0011a0004c0005t0018a0004c0005t0023others(2): Show | a0001c0001t0011g0184a0001c0001t0011g0185a0001c0001t0011g0186others(11): Show | 14 | 251 | 0.0558 | -316 | c.-95 others(12): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/5 | 686 | chr21 | TogoVar | |||||
SPATC1L_chr21_46156160_46189459 | 46183550 | GCGGGGAG others(240): Show |
G | splice_acceptor_variant others(3): Show |
HIGH | HG01074.hp2 HG01884.hp1 HG01884.hp2 others(21): Show |
a0002a0007 | a0002c0002a0007c0007 | a0002c0002t0003a0002c0002t0026a0002c0002t0027others(1): Show | a0002c0002t0003g0004a0002c0002t0003g0009a0002c0002t0003g0042others(17): Show | 24 | 251 | 0.0956 | -247 | c.-95 others(12): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/5 | 735 | chr21 | TogoVar | |||||
SPDYE3_chr7_100302702_100327196 | 100312524 | GAAAAAAG others(1386): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG02723.hp1 NA19240.hp1 |
a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0045 | 2 | 344 | 0.0058 | -1393 | c.764 others(15): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SPDYE9_chr7_73070972_73091038 | 73079580 | TGTCTCAA others(11451): Show |
T | exon_loss_variant | HIGH | HG02723.hp2 | a0007 | a0007c0010 | a0007c0010t0019 | a0007c0010t0019g0134 | 1 | 164 | 0.0061 | -11458 | c.-55 others(13): Show |
SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 5/8 | chr7 | TogoVar | ||||||
SPSB2_chr12_6865935_6878303 | 6872998 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG00423.hp1 HG00544.hp2 HG00609.hp2 others(74): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0016others(7): Show | 77 | 398 | 0.1935 | 0 | c.-96 others(5): Show |
SPSB2 | ENSG00000111671.10 | transcript | ENST00000524270.6 | protein_coding | 1/2 | chr12 | TogoVar | ||||||
SRSF3_chr6_36589362_36610600 | 36601940 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(95): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0021a0001c0001t0001g0045a0001c0001t0001g0051others(85): Show | 98 | 382 | 0.2565 | 1 | c.468 others(6): Show |
SRSF3 | ENSG00000112081.17 | transcript | ENST00000373715.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SRSF3_chr6_36589362_36610600 | 36601940 | C | CTTTTTTT | splice_acceptor_variant others(1): Show |
HIGH | HG01891.hp1 HG02559.hp2 HG02723.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0009a0001c0001t0020 | a0001c0001t0006g0202a0001c0001t0009g0040a0001c0001t0009g0041others(1): Show | 6 | 382 | 0.0157 | 7 | c.468 others(18): Show |
SRSF3 | ENSG00000112081.17 | transcript | ENST00000373715.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SYDE1_chr19_15102401_15119974 | 15107434 | A | G | start_lost | HIGH | HG02723.hp2 | a0007 | a0007c0014 | a0007c0014t0006 | a0007c0014t0006g0008 | 1 | 422 | 0.0024 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
SYDE1 | ENSG00000105137.13 | transcript | ENST00000342784.7 | protein_coding | 1/8 | 34/3252 | 1/2208 | 1/735 | chr19 | 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 |
a0002a0011 | a0002c0002a0002c0006a0011c0007 | a0002c0002t0000a0002c0006t0000a0011c0007t0000 | a0002c0002t0000g0000a0002c0006t0000g0000a0011c0007t0000g0000 | 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 | ||
TARS1_chr5_33435965_33473086 | 33441087 | A | G | start_lost | HIGH | HG02258.hp2 HG02723.hp2 |
a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0169a0004c0006t0002g0170 | 2 | 412 | 0.0049 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
TARS1 | ENSG00000113407.14 | transcript | ENST00000265112.8 | protein_coding | 1/19 | 123/2672 | 1/2172 | 1/723 | chr5 | TogoVar | ||
TAS2R46_chr12_11056365_11067294 | 11061546 | C | T | stop_gained | HIGH | HG00140.hp2 HG00544.hp2 HG00558.hp2 others(64): Show |
a0002a0007a0010 | a0002c0002a0007c0010a0010c0009 | a0002c0002t0000a0007c0010t0000a0010c0009t0000 | a0002c0002t0000g0000a0007c0010t0000g0000a0010c0009t0000g0000 | 67 | 295 | 0.2271 | 0 | c.749 others(3): Show |
p.Trp others(4): Show |
TAS2R46 | ENSG00000226761.3 | transcript | ENST00000533467.1 | protein_coding | 1/1 | 749/930 | 749/930 | 250/309 | chr12 | TogoVar | ||
TBC1D19_chr4_26579084_26761223 | 26735441 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(271): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(270): Show | 274 | 310 | 0.8839 | 1 | c.108 others(7): Show |
TBC1D19 | ENSG00000109680.11 | transcript | ENST00000264866.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
TBCD_chr17_82747065_82950914 | 82797739 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(115): Show |
a0001a0002a0006others(9): Show | a0001c0001a0001c0002a0001c0014others(17): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0026others(31): Show | a0001c0001t0002g0223a0001c0001t0002g0271a0001c0001t0002g0301others(115): Show | 118 | 318 | 0.3711 | 1 | c.772 others(6): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 7/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
TEX33_chr22_36986125_37012851 | 37001835 | A | G | splice_donor_variant others(1): Show |
HIGH | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 418 | 0.0024 | 0 | c.489 others(5): Show |
TEX33 | ENSG00000185264.12 | transcript | ENST00000381821.2 | protein_coding | 3/5 | chr22 | TogoVar | ||||||
TIAM2_chr6_154990315_155262723 | 155256583 | T | A | stop_gained | HIGH | HG00639.hp2 HG01109.hp1 HG02723.hp2 others(1): Show |
a0013a0018a0030 | a0013c0051a0013c0058a0018c0029others(1): Show | a0013c0051t0005a0013c0058t0005a0018c0029t0001others(1): Show | a0013c0051t0005g0180a0013c0058t0005g0085a0018c0029t0001g0041others(1): Show | 4 | 230 | 0.0174 | 0 | c.456 others(4): Show |
p.Leu others(5): Show |
TIAM2 | ENSG00000146426.19 | transcript | ENST00000682666.1 | protein_coding | 27/27 | 4954/6094 | 4568/5106 | 1523/1701 | chr6 | TogoVar | ||
TIGD6_chr5_149988118_150005654 | 149995316 | CT | C | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(190): Show |
a0001a0004a0009others(5): Show | a0001c0001a0001c0017a0004c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0020others(31): Show | 193 | 436 | 0.4427 | -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 | ||
TMEM216_chr11_61387587_61403846 | 61398269 | G | C | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(173): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0005t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0011others(24): Show | 176 | 270 | 0.6519 | 0 | c.432 others(5): Show |
TMEM216 | ENSG00000187049.11 | transcript | ENST00000515837.7 | protein_coding | 4/4 | chr11 | TogoVar | ||||||
TMEM272_chr13_51808347_51850177 | 51822054 | C | T | splice_donor_variant others(1): Show |
HIGH | HG02615.hp2 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0048 | a0001c0001t0003g0167a0001c0001t0048g0157 | 2 | 432 | 0.0046 | 0 | c.201 others(5): Show |
TMEM272 | ENSG00000281106.4 | transcript | ENST00000629372.3 | protein_coding | 4/4 | chr13 | TogoVar | ||||||
TMEM86B_chr19_55221638_55233763 | 55228340 | GCAGCGAA others(6): Show |
G | frameshift_variant | HIGH | HG02723.hp2 | a0006 | a0006c0008 | a0006c0008t0003 | a0006c0008t0003g0044 | 1 | 430 | 0.0023 | -13 | c.136 others(20): Show |
p.Ser others(4): Show |
TMEM86B | ENSG00000180089.6 | transcript | ENST00000327042.5 | protein_coding | 2/3 | 170/1246 | 136/681 | 46/226 | chr19 | TogoVar | ||
TMPRSS6_chr22_37060436_37114713 | 37069345 | C | CTGGGGTG others(3): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG01099.hp2 HG01884.hp1 HG01884.hp2 others(9): Show |
a0001a0022 | a0001c0007a0001c0017a0001c0020others(2): Show | a0001c0007t0001a0001c0017t0001a0001c0020t0001others(3): Show | a0001c0007t0001g0021a0001c0007t0001g0096a0001c0007t0001g0160others(9): Show | 12 | 348 | 0.0345 | 10 | c.184 others(24): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 15/17 | chr22 | TogoVar | ||||||
TMPRSS6_chr22_37060436_37114713 | 37069345 | CTGGGG | C | splice_acceptor_variant others(2): Show |
HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(122): Show |
a0001a0002a0003others(2): Show | a0001c0005a0001c0006a0001c0009others(21): Show | a0001c0005t0001a0001c0005t0002a0001c0006t0001others(22): Show | a0001c0005t0001g0082a0001c0005t0001g0120a0001c0005t0001g0121others(118): Show | 125 | 348 | 0.3592 | -5 | c.184 others(18): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 15/17 | chr22 | TogoVar | ||||||
TNFAIP3_chr6_137862259_137888312 | 137867485 | GCCCGGAG others(17): Show |
G | splice_donor_variant others(3): Show |
HIGH | HG00639.hp2 HG01099.hp1 HG01106.hp2 others(11): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0002a0002c0002t0002a0002c0003t0002others(2): Show | a0001c0001t0002g0002a0002c0002t0002g0102a0002c0003t0002g0009others(5): Show | 14 | 360 | 0.0389 | -24 | c.-21 others(34): Show |
TNFAIP3 | ENSG00000118503.18 | transcript | ENST00000612899.5 | protein_coding | 1/9 | 3668 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
TPSB2_chr16_1223336_1235184 | 1229237 | C | CG | frameshift_variant | HIGH | HG00140.hp2 HG00642.hp2 HG00735.hp2 others(21): Show |
a0004 | a0004c0004a0004c0014 | a0004c0004t0002a0004c0004t0008a0004c0014t0002 | a0004c0004t0002g0004a0004c0004t0002g0012a0004c0004t0008g0034others(1): Show | 24 | 344 | 0.0698 | 1 | c.452 others(4): Show |
p.Met others(5): Show |
TPSB2 | ENSG00000197253.14 | transcript | ENST00000606293.5 | protein_coding | 4/6 | 475/1165 | 452/828 | 151/275 | chr16 | TogoVar | ||
TRIM22_chr11_5684790_5715863 | 5698547 | T | C | splice_donor_variant others(1): Show |
HIGH | HG02615.hp1 HG02622.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0010 | a0001c0010t0006 | a0001c0010t0006g0002a0001c0010t0006g0301a0001c0010t0006g0302 | 6 | 480 | 0.0125 | 0 | c.750 others(5): Show |
TRIM22 | ENSG00000132274.17 | transcript | ENST00000379965.8 | protein_coding | 4/7 | chr11 | TogoVar | ||||||
TRIM49B_chr11_49023823_49043155 | 49031600 | A | G | start_lost | HIGH | HG02280.hp2 HG02723.hp2 HG03209.hp1 |
a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0002a0006c0007t0001g0004 | 3 | 430 | 0.0070 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
TRIM49B | ENSG00000182053.13 | transcript | ENST00000332682.9 | protein_coding | 2/7 | 158/1694 | 1/1359 | 1/452 | chr11 | TogoVar | ||
TRIM51G_chr11_48970498_48988885 | 48978871 | C | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(271): Show |
a0001a0003a0005others(5): Show | a0001c0001a0001c0006a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0003others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(74): Show | 274 | 424 | 0.6462 | 0 | c.738 others(5): Show |
TRIM51G | ENSG00000220948.6 | transcript | ENST00000534741.3 | protein_coding | 4/6 | chr11 | TogoVar | ||||||
TRIM51G_chr11_48970498_48988885 | 48979006 | G | A | stop_gained | HIGH | HG00099.hp1 HG00408.hp1 HG00438.hp1 others(136): Show |
a0002a0012a0013 | a0002c0002a0002c0004a0002c0015others(3): Show | a0002c0002t0002a0002c0004t0002a0002c0015t0002others(3): Show | a0002c0002t0002g0005a0002c0002t0002g0007a0002c0002t0002g0009others(58): Show | 139 | 424 | 0.3278 | 0 | c.604 others(3): Show |
p.Gln others(4): Show |
TRIM51G | ENSG00000220948.6 | transcript | ENST00000534741.3 | protein_coding | 4/7 | 755/1510 | 604/1359 | 202/452 | chr11 | TogoVar | ||
TRIM73_chr7_75390629_75410605 | 75403732 | C | T | stop_gained | HIGH | HG00140.hp1 HG01123.hp1 HG01168.hp2 others(43): Show |
a0002a0008 | a0002c0002a0008c0008 | a0002c0002t0001a0008c0008t0001 | a0002c0002t0001g0006a0002c0002t0001g0007a0002c0002t0001g0019others(14): Show | 46 | 322 | 0.1429 | 0 | c.487 others(3): Show |
p.Arg others(4): Show |
TRIM73 | ENSG00000178809.12 | transcript | ENST00000323819.8 | protein_coding | 3/5 | 687/1350 | 487/753 | 163/250 | chr7 | TogoVar | ||
TRPM1_chr15_30996065_31106725 | 31002511 | C | A | stop_gained | HIGH | HG00733.hp2 HG01099.hp1 HG01257.hp2 others(20): Show |
a0005a0007a0008 | a0005c0007a0005c0025a0005c0045others(7): Show | a0005c0007t0001a0005c0025t0001a0005c0045t0001others(7): Show | a0005c0007t0001g0021a0005c0007t0001g0087a0005c0007t0001g0089others(19): Show | 23 | 255 | 0.0902 | 0 | c.418 others(4): Show |
p.Glu others(5): Show |
TRPM1 | ENSG00000134160.17 | transcript | ENST00000256552.11 | protein_coding | 28/28 | 4341/5787 | 4189/4878 | 1397/1625 | chr15 | TogoVar | ||
TSEN2_chr3_12479480_12538658 | 12484881 | G | T | splice_donor_variant others(1): Show |
HIGH | HG02572.hp2 HG02723.hp2 NA20300.hp2 |
a0002 | a0002c0006 | a0002c0006t0005 | a0002c0006t0005g0236a0002c0006t0005g0237a0002c0006t0005g0238 | 3 | 284 | 0.0106 | 0 | c.-18 others(5): Show |
TSEN2 | ENSG00000154743.19 | transcript | ENST00000284995.11 | protein_coding | 1/11 | chr3 | TogoVar | ||||||
TSNARE1_chr8_142207080_142408182 | 142229492 | G | A | stop_gained | HIGH | HG02723.hp2 HG03471.hp1 |
a0011a0015 | a0011c0020a0015c0012 | a0011c0020t0001a0015c0012t0001 | a0011c0020t0001g0147a0015c0012t0001g0185 | 2 | 238 | 0.0084 | 0 | c.153 others(4): Show |
p.Arg others(4): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 13/14 | 1652/1905 | 1534/1542 | 512/513 | chr8 | TogoVar | ||
TTC14_chr3_180597163_180616130 | 180603109 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG01891.hp2 HG02145.hp2 HG02723.hp1 others(3): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0013a0001c0001t0001g0027a0001c0006t0001g0013 | 6 | 334 | 0.0180 | 1 | c.287 others(6): Show |
TTC14 | ENSG00000163728.11 | transcript | ENST00000296015.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr3 | 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 | a0001c0002t0002g0002a0001c0002t0002g0003a0001c0002t0002g0006others(31): Show | 177 | 428 | 0.4136 | -2474 | c.-14 others(11): Show |
TUBA3E | ENSG00000152086.9 | transcript | ENST00000312988.9 | protein_coding | 1/5 | chr2 | TogoVar |