| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RXFP2_chr13_31734526_31808389 | 31786554 | T | TAA | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00639.hp2 others(99): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0012a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(97): Show | 102 | 386 | 0.2643 | 2 | c.100 others(15): Show |
RXFP2 | ENSG00000133105.8 | transcript | ENST00000298386.7 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| SCAPER_chr15_76342904_76910340 | 76883817 | T | C | start_lost | HIGH | HG00140.hp2 HG00544.hp2 HG00597.hp1 others(114): Show |
a0002a0003a0005others(4): Show | a0002c0002a0002c0022a0003c0003others(5): Show | a0002c0002t0002a0002c0022t0002a0003c0003t0002others(9): Show | a0002c0002t0002g0190a0002c0002t0002g0194a0002c0002t0002g0219others(114): Show | 117 | 312 | 0.3750 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 2/32 | 102/5033 | 1/4203 | 1/1400 | chr15 | 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 | |
| SEMA4C_chr2_96854718_96875080 | 96861051 | C | A | stop_gained | HIGH | HG00639.hp1 HG00741.hp2 HG01243.hp1 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0010 | 7 | 350 | 0.0200 | 0 | c.207 others(4): Show |
p.Glu others(4): Show |
SEMA4C | ENSG00000168758.11 | transcript | ENST00000305476.10 | protein_coding | 15/15 | 2319/3652 | 2077/2502 | 693/833 | chr2 | TogoVar | ||
| SEMG1_chr20_45202033_45214768 | 45208732 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 408 | 0.0025 | 0 | c.*44 others(5): Show |
SEMG1 | ENSG00000124233.12 | transcript | ENST00000372781.4 | protein_coding | 2/2 | chr20 | TogoVar | ||||||
| SERPINA9_chr14_94457721_94481197 | 94469291 | G | A | stop_gained | HIGH | HG00639.hp2 HG01891.hp1 HG02055.hp2 others(3): Show |
a0012a0024 | a0012c0016a0012c0021a0024c0039 | a0012c0016t0002a0012c0021t0006a0024c0039t0001 | a0012c0016t0002g0193a0012c0016t0002g0258a0012c0016t0002g0294others(3): Show | 6 | 466 | 0.0129 | 0 | c.550 others(3): Show |
p.Gln others(4): Show |
SERPINA9 | ENSG00000170054.16 | transcript | ENST00000674397.2 | protein_coding | 2/5 | 629/1705 | 550/1254 | 184/417 | 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 | ||
| SETD1B_chr12_121799009_121837656 | 121814258 | G | GC | frameshift_variant | HIGH | HG00597.hp1 HG00639.hp1 HG01934.hp1 others(8): Show |
a0004a0005 | a0004c0008a0004c0020a0004c0021others(3): Show | a0004c0008t0003a0004c0020t0001a0004c0021t0002others(4): Show | a0004c0008t0003g0136a0004c0008t0003g0154a0004c0008t0003g0163others(8): Show | 11 | 262 | 0.0420 | 1 | c.204 others(5): Show |
p.Pro others(5): Show |
SETD1B | ENSG00000139718.12 | transcript | ENST00000604567.6 | protein_coding | 7/17 | 2288/8557 | 2049/5901 | 683/1966 | INFO_REALIGN_3_PRIME | chr12 | 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 | ||
| 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 | ||
| SLC22A25_chr11_63153437_63248599 | 63217378 | G | A | stop_gained | HIGH | HG00639.hp1 HG02027.hp2 |
a0010a0011 | a0010c0014a0011c0013 | a0010c0014t0001a0011c0013t0008 | a0010c0014t0001g0227a0011c0013t0008g0300 | 2 | 344 | 0.0058 | 0 | c.766 others(3): Show |
p.Arg others(4): Show |
SLC22A25 | ENSG00000196600.13 | transcript | ENST00000306494.11 | protein_coding | 7/12 | 1927/8192 | 766/1644 | 256/547 | chr11 | 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 | ||
| SLC5A9_chr1_48217716_48253638 | 48242556 | G | T | stop_gained | HIGH | HG00099.hp2 HG00280.hp2 HG00639.hp2 others(35): Show |
a0003a0011 | a0003c0003a0003c0008a0011c0022 | a0003c0003t0001a0003c0003t0002a0003c0008t0002others(1): Show | a0003c0003t0001g0004a0003c0003t0002g0004a0003c0003t0002g0019others(24): Show | 38 | 420 | 0.0905 | 0 | c.177 others(4): Show |
p.Glu others(4): Show |
SLC5A9 | ENSG00000117834.13 | transcript | ENST00000438567.7 | protein_coding | 13/14 | 1798/3162 | 1777/2046 | 593/681 | chr1 | TogoVar | ||
| SLC9A8_chr20_49807828_49897242 | 49812925 | G | T | start_lost | HIGH | HG00280.hp1 HG00323.hp2 HG00639.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0214a0002c0004t0001g0259a0002c0004t0001g0260 | 3 | 360 | 0.0083 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
SLC9A8 | ENSG00000197818.12 | transcript | ENST00000361573.3 | protein_coding | 1/16 | 98/6147 | 3/1746 | 1/581 | chr20 | 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 | |||||
| SON_chr21_33538038_33582481 | 33576378 | G | GA | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(360): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0002a0001c0009others(50): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(52): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(246): Show | 363 | 364 | 0.9973 | 1 | c.723 others(5): Show |
p.Ala others(6): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 12/12 | 7292/8393 | 7237/7281 | 2413/2426 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |
| SON_chr21_33538038_33582481 | 33576390 | GA | G | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(360): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0002a0001c0009others(50): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(52): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(246): Show | 363 | 364 | 0.9973 | -1 | c.724 others(5): Show |
p.Arg others(6): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 12/12 | 7303/8393 | 7248/7281 | 2416/2426 | chr21 | TogoVar | ||
| SPATA31C1_chr9_87912962_87928657 | 87923373 | C | T | stop_gained | HIGH | HG00423.hp1 HG00438.hp1 HG00597.hp1 others(39): Show |
a0005a0023a0024others(2): Show | a0005c0005a0005c0034a0023c0028others(3): Show | a0005c0005t0001a0005c0034t0001a0023c0028t0003others(3): Show | a0005c0005t0001g0003a0005c0005t0001g0005a0005c0005t0001g0023others(6): Show | 42 | 388 | 0.1083 | 0 | c.346 others(4): Show |
p.Arg others(5): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 4/4 | 3495/3779 | 3466/3567 | 1156/1188 | chr9 | TogoVar | ||
| SPATA31C2_chr9_88124305_88143475 | 88135330 | TATGTACC others(3482): Show |
T | exon_loss_variant others(1): Show |
HIGH | HG00639.hp2 | a0005 | a0005c0006 | a0005c0006t0003 | a0005c0006t0003g0076 | 1 | 446 | 0.0022 | -3489 | c.-37 others(13): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1/4 | chr9 | 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 | |||||
| SPDYE21_chr7_67271941_67294005 | 67281505 | T | TGGGTGGC | frameshift_variant | HIGH | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(128): Show |
a0002a0009a0012others(2): Show | a0002c0002a0002c0010a0009c0011others(3): Show | a0002c0002t0001a0002c0002t0009a0002c0002t0017others(6): Show | a0002c0002t0001g0001a0002c0002t0001g0003a0002c0002t0001g0004others(50): Show | 131 | 460 | 0.2848 | 7 | c.514 others(14): Show |
p.Glu others(5): Show |
SPDYE21 | ENSG00000230358.6 | transcript | ENST00000424157.4 | protein_coding | 4/9 | 1065/3286 | 521/1209 | 174/402 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| SPDYE3_chr7_100302702_100327196 | 100313637 | GATTGCTT others(1385): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00639.hp2 others(18): Show |
a0002a0003 | a0002c0004a0002c0006a0003c0012 | a0002c0004t0002a0002c0004t0005a0002c0004t0014others(2): Show | a0002c0004t0002g0008a0002c0004t0002g0044a0002c0004t0002g0185others(13): Show | 21 | 344 | 0.0611 | -1392 | c.982 others(16): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| STYXL1_chr7_75991342_76053000 | 76028653 | G | A | stop_gained | HIGH | HG00639.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0289 | 1 | 356 | 0.0028 | 0 | c.154 others(3): Show |
p.Arg others(3): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 3/9 | 497/1411 | 154/942 | 52/313 | chr7 | TogoVar | ||
| SYDE2_chr1_85151889_85206016 | 85178221 | G | A | stop_gained | HIGH | HG00639.hp1 | a0025 | a0025c0028 | a0025c0028t0010 | a0025c0028t0010g0076 | 1 | 398 | 0.0025 | 0 | c.259 others(4): Show |
p.Arg others(4): Show |
SYDE2 | ENSG00000097096.10 | transcript | ENST00000341460.6 | protein_coding | 4/7 | 2616/5466 | 2596/3585 | 866/1194 | chr1 | TogoVar | ||
| SYT15_chr10_46574128_46597064 | 46583722 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(39): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0021a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0021g0058a0001c0002t0001g0034a0001c0002t0002g0006others(19): Show | 42 | 284 | 0.1479 | 1 | c.652 others(6): Show |
SYT15 | ENSG00000204176.14 | transcript | ENST00000374321.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| TAAR9_chr6_132533277_132544336 | 132538470 | A | T | stop_gained | HIGH | HG00140.hp2 HG00639.hp2 HG00735.hp1 others(71): Show |
a0002 | a0002c0002a0002c0006 | a0002c0002t0001a0002c0006t0001 | a0002c0002t0001g0000a0002c0006t0001g0000 | 74 | 430 | 0.1721 | 0 | c.181 others(3): Show |
p.Lys others(3): Show |
TAAR9 | ENSG00000237110.3 | transcript | ENST00000434551.3 | protein_coding | 1/1 | 194/1060 | 181/1047 | 61/348 | chr6 | TogoVar | ||
| TAC4_chr17_49833300_49853069 | 49844056 | TCACTCAC others(4): Show |
T | frameshift_variant others(3): Show |
HIGH | HG00639.hp1 HG00738.hp2 HG01106.hp1 others(10): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005a0002c0002t0001g0071a0002c0002t0001g0072 | 13 | 406 | 0.0320 | -11 | c.196 others(20): Show |
p.Gly others(4): Show |
TAC4 | ENSG00000176358.16 | transcript | ENST00000436235.6 | protein_coding | 2/5 | 196/324 | 66/107 | chr17 | 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 | |||||
| TDRD12_chr19_32714767_32834580 | 32826678 | AAC | A | splice_acceptor_variant others(2): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00558.hp1 others(112): Show |
a0002a0003a0005others(6): Show | a0002c0003a0002c0010a0003c0002others(7): Show | a0002c0003t0001a0002c0003t0011a0002c0003t0033others(20): Show | a0002c0003t0001g0002a0002c0003t0001g0003a0002c0003t0001g0174others(110): Show | 115 | 380 | 0.3026 | -2 | c.382 others(15): Show |
TDRD12 | ENSG00000173809.18 | transcript | ENST00000639142.2 | protein_coding | 31/32 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| TEX33_chr22_36986125_37012851 | 37002061 | G | A | stop_gained | HIGH | HG00639.hp1 | a0007 | a0007c0011 | a0007c0011t0001 | a0007c0011t0001g0178 | 1 | 418 | 0.0024 | 0 | c.265 others(3): Show |
p.Gln others(3): Show |
TEX33 | ENSG00000185264.12 | transcript | ENST00000381821.2 | protein_coding | 3/6 | 426/1058 | 265/843 | 89/280 | 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 | ||||||
| TMEM269_chr1_42779991_42805827 | 42789896 | G | A | start_lost | HIGH | HG00639.hp1 HG02280.hp2 HG03225.hp1 |
a0003 | a0003c0004 | a0003c0004t0023a0003c0004t0043 | a0003c0004t0023g0121a0003c0004t0023g0123a0003c0004t0043g0122 | 3 | 410 | 0.0073 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
TMEM269 | ENSG00000274386.6 | transcript | ENST00000637012.2 | protein_coding | 2/6 | 193/3404 | 3/612 | 1/203 | chr1 | 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 | a0001c0001t0001g0092a0001c0001t0002g0190a0001c0001t0003g0009others(124): Show | 130 | 406 | 0.3202 | 0 | c.4-1 others(3): Show |
TMPRSS4 | ENSG00000137648.19 | transcript | ENST00000437212.8 | protein_coding | 1/12 | chr11 | 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 | ||||
| TNIP1_chr5_151024945_151086034 | 151033665 | A | AG | frameshift_variant | HIGH | HG00597.hp1 HG00639.hp1 HG00673.hp2 others(22): Show |
a0003a0010a0013others(2): Show | a0003c0003a0003c0009a0010c0024others(4): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(6): Show | a0003c0003t0001g0067a0003c0003t0001g0100a0003c0003t0001g0207others(22): Show | 25 | 402 | 0.0622 | 1 | c.172 others(5): Show |
p.Pro others(5): Show |
TNIP1 | ENSG00000145901.16 | transcript | ENST00000521591.6 | protein_coding | 16/18 | 1912/2870 | 1721/1911 | 574/636 | chr5 | TogoVar | ||
| TNK1_chr17_7376089_7394742 | 7387376 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00323.hp2 HG00438.hp2 others(53): Show |
a0001a0003a0009others(3): Show | a0001c0001a0001c0002a0001c0031others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0031t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0043a0001c0001t0001g0048others(15): Show | 56 | 452 | 0.1239 | 0 | c.139 others(6): Show |
TNK1 | ENSG00000174292.13 | transcript | ENST00000688331.1 | protein_coding | 9/12 | chr17 | TogoVar | ||||||
| TNK2_chr3_195858364_195913551 | 195868357 | C | CG | frameshift_variant | HIGH | HG00597.hp1 HG00621.hp1 HG00639.hp1 others(50): Show |
a0002a0013a0016others(3): Show | a0002c0004a0002c0008a0002c0010others(20): Show | a0002c0004t0001a0002c0004t0002a0002c0008t0001others(24): Show | a0002c0004t0001g0131a0002c0004t0001g0256a0002c0004t0001g0279others(50): Show | 53 | 372 | 0.1425 | 1 | c.194 others(5): Show |
p.Pro others(5): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 13/16 | 2025/4070 | 1940/3168 | 647/1055 | chr3 | TogoVar | ||
| TPRG1_chr3_189166971_189330304 | 189310541 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 288 | 0.0035 | 0 | c.633 others(5): Show |
TPRG1 | ENSG00000188001.10 | transcript | ENST00000345063.8 | protein_coding | 5/5 | chr3 | TogoVar | ||||||
| TPSD1_chr16_1251069_1264008 | 1256558 | AG | A | frameshift_variant | HIGH | HG00140.hp1 HG00423.hp2 HG00639.hp2 others(69): Show |
a0002a0004 | a0002c0002a0002c0012a0002c0018others(3): Show | a0002c0002t0002a0002c0002t0008a0002c0002t0016others(23): Show | a0002c0002t0002g0002a0002c0002t0002g0012a0002c0002t0002g0015others(27): Show | 72 | 270 | 0.2667 | -1 | c.127 others(4): Show |
p.Glu others(4): Show |
TPSD1 | ENSG00000095917.15 | transcript | ENST00000211076.5 | protein_coding | 2/5 | 339/1573 | 127/729 | 43/242 | INFO_REALIGN_3_PRIME | chr16 | 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 | ||||||
| TSSK4_chr14_24200696_24213248 | 24208024 | A | T | stop_gained | HIGH | HG00639.hp1 HG00741.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0001 | 2 | 428 | 0.0047 | 0 | c.895 others(3): Show |
p.Lys others(4): Show |
TSSK4 | ENSG00000139908.15 | transcript | ENST00000339917.10 | protein_coding | 4/4 | 1123/1347 | 895/1017 | 299/338 | chr14 | TogoVar | ||
| TYW1B_chr7_72569513_72833200 | 72728896 | C | T | stop_gained | HIGH | HG00280.hp1 HG00323.hp1 HG00558.hp2 others(118): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0007a0001c0018others(11): Show | a0001c0001t0001a0001c0007t0001a0001c0018t0001others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(118): Show | 121 | 286 | 0.4231 | 0 | c.111 others(4): Show |
p.Trp others(4): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 9/14 | 1243/3117 | 1118/2007 | 373/668 | chr7 | TogoVar | ||
| TYW1B_chr7_72569513_72833200 | 72744551 | C | CA | frameshift_variant | HIGH | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(209): Show |
a0001a0004a0005others(5): Show | a0001c0001a0001c0002a0001c0006others(18): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(19): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(209): Show | 212 | 286 | 0.7413 | 1 | c.101 others(5): Show |
p.Glu others(5): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 8/14 | 1139/3117 | 1014/2007 | 338/668 | chr7 | TogoVar |