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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | ||
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 | ||
SIGLEC5_chr19_51605960_51635401 | 51629415 | TCTGACAG others(5979): Show |
T | exon_loss_variant | HIGH | HG00609.hp2 HG02080.hp1 HG02129.hp2 others(7): Show |
a0009a0012a0018 | a0009c0016a0009c0029a0009c0031others(2): Show | a0009c0016t0003a0009c0029t0003a0009c0031t0003others(3): Show | a0009c0016t0003g0019a0009c0016t0003g0050a0009c0016t0003g0052others(6): Show | 10 | 414 | 0.0242 | -5986 | c.-50 others(9): Show |
SIGLEC5 | ENSG00000268500.7 | transcript | ENST00000683636.1 | protein_coding | 2/9 | 708/2993 | chr19 | TogoVar | |||||
SLAMF8_chr1_159821873_159842492 | 159830018 | C | T | stop_gained | HIGH | HG02080.hp2 HG02129.hp1 HG02135.hp1 others(2): Show |
a0004 | a0004c0006a0004c0015 | a0004c0006t0001a0004c0015t0017 | a0004c0006t0001g0009a0004c0006t0001g0021a0004c0006t0001g0037others(2): Show | 5 | 476 | 0.0105 | 0 | c.193 others(3): Show |
p.Arg others(3): Show |
SLAMF8 | ENSG00000158714.11 | transcript | ENST00000289707.10 | protein_coding | 2/5 | 219/3116 | 193/858 | 65/285 | chr1 | 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 | ||
SLC22A14_chr3_38277294_38323575 | 38307252 | A | C | splice_acceptor_variant others(1): Show |
HIGH | HG00609.hp1 HG00621.hp1 HG00735.hp2 others(42): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0019a0001c0001t0001g0024a0001c0001t0001g0199others(35): Show | 45 | 406 | 0.1108 | 0 | c.517 others(5): Show |
SLC22A14 | ENSG00000144671.11 | transcript | ENST00000448498.6 | protein_coding | 2/10 | chr3 | TogoVar | ||||||
SLC22A31_chr16_89190761_89205537 | 89196258 | GCCTGGCC others(74): Show |
G | frameshift_variant others(3): Show |
HIGH | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(170): Show |
a0002a0005a0006others(4): Show | a0002c0002a0002c0004a0002c0007others(9): Show | a0002c0002t0001a0002c0002t0002a0002c0004t0001others(10): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0014others(30): Show | 173 | 428 | 0.4042 | -81 | c.103 others(93): Show |
p.Arg others(5): Show |
SLC22A31 | ENSG00000259803.8 | transcript | ENST00000682282.1 | protein_coding | 9/9 | 1117/1615 | 1035/1341 | 345/446 | chr16 | 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 | ||
SLC7A13_chr8_86209063_86235381 | 86214405 | TCCGACAT others(1): Show |
T | frameshift_variant others(1): Show |
HIGH | HG00438.hp1 HG00544.hp1 HG01070.hp1 others(92): Show |
a0000 | a0000c0002a0000c0015a0000c0024 | a0000c0002t0002a0000c0015t0002a0000c0024t0002 | a0000c0002t0002g0002a0000c0002t0002g0008a0000c0002t0002g0012others(18): Show | 95 | 428 | 0.2220 | -8 | c.141 others(15): Show |
p.Ter others(5): Show |
SLC7A13 | ENSG00000164893.9 | transcript | ENST00000297524.8 | protein_coding | 4/4 | 1524/1867 | 1413/1413 | 471/470 | chr8 | TogoVar | ||
SLFN12L_chr17_35459254_35542678 | 35479822 | AG | A | frameshift_variant | HIGH | HG00597.hp1 HG01106.hp1 HG01891.hp1 others(31): Show |
a0005 | a0005c0006a0005c0019 | a0005c0006t0005a0005c0006t0021a0005c0006t0036others(9): Show | a0005c0006t0005g0060a0005c0006t0005g0130a0005c0006t0005g0131others(31): Show | 34 | 360 | 0.0944 | -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 | ||
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 | ||
SPATA45_chr1_212825141_212852649 | 212836041 | G | A | stop_gained | HIGH | HG00423.hp1 HG00673.hp1 HG02015.hp2 others(14): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0005a0003c0003t0001g0031a0003c0003t0001g0185others(4): Show | 17 | 402 | 0.0423 | 0 | c.109 others(3): Show |
p.Arg others(3): Show |
SPATA45 | ENSG00000185523.6 | transcript | ENST00000332912.3 | protein_coding | 2/3 | 217/506 | 109/297 | 37/98 | chr1 | TogoVar | ||
SPATC1L_chr21_46156160_46189459 | 46161408 | C | A | stop_gained | HIGH | HG02129.hp1 | a0011 | a0011c0011 | a0011c0011t0004 | a0011c0011t0004g0160 | 1 | 251 | 0.0040 | 0 | c.994 others(3): Show |
p.Glu others(4): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 5/5 | 2056/2304 | 994/1023 | 332/340 | 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 | |
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 | |||||
SYNE2_chr14_63848004_64231433 | 63993818 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00423.hp1 HG00438.hp2 HG00609.hp2 others(75): Show |
a0001a0002a0003others(38): Show | a0001c0004a0001c0005a0001c0009others(51): Show | a0001c0004t0003a0001c0005t0001a0001c0005t0002others(59): Show | a0001c0004t0003g0071a0001c0005t0001g0030a0001c0005t0002g0044others(75): Show | 78 | 150 | 0.5200 | 1 | c.264 others(7): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 21/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SYNE2_chr14_63848004_64231433 | 64093374 | G | A | stop_gained | HIGH | HG00423.hp1 HG00741.hp1 HG01496.hp2 others(25): Show |
a0003a0008a0012others(10): Show | a0003c0002a0003c0015a0003c0034others(16): Show | a0003c0002t0001a0003c0002t0006a0003c0002t0011others(18): Show | a0003c0002t0001g0005a0003c0002t0001g0006a0003c0002t0001g0010others(25): Show | 28 | 150 | 0.1867 | 0 | c.120 others(5): Show |
p.Trp others(5): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 61/116 | 12193/21822 | 12002/20724 | 4001/6907 | chr14 | TogoVar | ||
TAAR2_chr6_132612150_132629275 | 132617703 | C | T | stop_gained | HIGH | HG00408.hp2 HG00544.hp2 HG00558.hp1 others(24): Show |
a0002 | a0002c0003a0002c0008 | a0002c0003t0000a0002c0008t0000 | a0002c0003t0000g0004a0002c0003t0000g0029a0002c0003t0000g0056others(9): Show | 27 | 452 | 0.0597 | 0 | c.503 others(3): Show |
p.Trp others(4): Show |
TAAR2 | ENSG00000146378.6 | transcript | ENST00000367931.1 | protein_coding | 2/2 | 503/1056 | 503/1056 | 168/351 | chr6 | TogoVar | ||
TAP2_chr6_32820415_32843739 | 32828908 | A | G | stop_lost | HIGH | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(156): Show |
a0000 | a0000c0002a0000c0006a0000c0008others(19): Show | a0000c0002t0001a0000c0002t0003a0000c0002t0025others(28): Show | a0000c0002t0001g0001a0000c0002t0001g0037a0000c0002t0001g0040others(70): Show | 159 | 485 | 0.3278 | 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 | ||
TAS2R46_chr12_11056365_11067294 | 11062032 | CA | C | frameshift_variant | HIGH | HG00642.hp1 HG02129.hp2 NA19068.hp1 others(1): Show |
a0004 | a0004c0005 | a0004c0005t0000 | a0004c0005t0000g0000 | 4 | 295 | 0.0136 | -1 | c.262 others(4): Show |
p.Trp others(4): Show |
TAS2R46 | ENSG00000226761.3 | transcript | ENST00000533467.1 | protein_coding | 1/1 | 262/930 | 262/930 | 88/309 | chr12 | TogoVar | ||
TBC1D2_chr9_98194011_98260649 | 98255541 | T | C | start_lost | HIGH | HG02129.hp1 NA19077.hp2 |
a0010 | a0010c0020 | a0010c0020t0001 | a0010c0020t0001g0335a0010c0020t0001g0336 | 2 | 366 | 0.0055 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
TBC1D2 | ENSG00000095383.20 | transcript | ENST00000465784.7 | protein_coding | 1/13 | 109/3265 | 1/2787 | 1/928 | chr9 | TogoVar | ||
TBC1D3C_chr17_38052693_38073634 | 38062566 | C | G | splice_donor_variant others(1): Show |
HIGH | HG00544.hp2 HG02129.hp2 NA18968.hp1 |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0001a0008c0009t0001 | a0001c0001t0001g0038a0008c0009t0001g0036a0008c0009t0001g0037 | 3 | 84 | 0.0357 | 0 | c.546 others(5): Show |
TBC1D3C | ENSG00000278299.6 | transcript | ENST00000622206.2 | protein_coding | 8/13 | chr17 | 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 | |||||
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 | |||||
TDRD6_chr6_46682885_46709319 | 46691705 | G | T | stop_gained | HIGH | HG02129.hp1 | a0024 | a0024c0032 | a0024c0032t0001 | a0024c0032t0001g0003 | 1 | 410 | 0.0024 | 0 | c.357 others(4): Show |
p.Glu others(5): Show |
TDRD6 | ENSG00000180113.16 | transcript | ENST00000316081.11 | protein_coding | 1/4 | 3821/8967 | 3577/6291 | 1193/2096 | chr6 | TogoVar | ||
TEX26_chr13_30927656_30980500 | 30956872 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(99): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(88): Show | 102 | 414 | 0.2464 | 0 | c.313 others(5): Show |
TEX26 | ENSG00000175664.10 | transcript | ENST00000380473.8 | protein_coding | 3/6 | chr13 | 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 | ||
TLR8_chrX_12901620_12928169 | 12906707 | A | G | start_lost others(1): Show |
HIGH | HG00099.hp2 HG00423.hp1 HG00438.hp1 others(162): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0004a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0008a0001c0004t0001others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0011others(44): Show | 165 | 303 | 0.5446 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
TLR8 | ENSG00000101916.12 | transcript | ENST00000218032.7 | protein_coding | 1/2 | 88/4216 | 1/3126 | 1/1041 | chrX | TogoVar | ||
TM4SF20_chr2_227357038_227384306 | 227365989 | AGTTGCAT others(2306): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG02129.hp2 | a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0123 | 1 | 470 | 0.0021 | -2313 | c.250 others(16): Show |
TM4SF20 | ENSG00000168955.4 | transcript | ENST00000304568.4 | protein_coding | 3/4 | chr2 | 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 | ||||||
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 | a0001c0001t0001g0251a0002c0003t0001g0007a0002c0003t0001g0011others(80): Show | 102 | 472 | 0.2161 | 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 | 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 | ||||||
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 | ||
TSPAN1_chr1_46170087_46190962 | 46181108 | A | G | start_lost | HIGH | HG02129.hp1 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0206 | 1 | 436 | 0.0023 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
TSPAN1 | ENSG00000117472.10 | transcript | ENST00000372003.6 | protein_coding | 3/9 | 465/1619 | 1/726 | 1/241 | chr1 | 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 | ||||||
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 | ||
USP17L26_chr4_9329658_9341250 | 9336065 | A | T | stop_gained | HIGH | HG00621.hp1 HG02129.hp1 NA18957.hp1 others(2): Show |
a0005a0006a0021 | a0005c0008a0005c0034a0006c0044others(1): Show | a0005c0008t0000a0005c0034t0000a0006c0044t0000others(1): Show | a0005c0008t0000g0000a0005c0034t0000g0000a0006c0044t0000g0000others(1): Show | 5 | 102 | 0.0490 | 0 | c.140 others(4): Show |
p.Lys others(4): Show |
USP17L26 | ENSG00000229579.5 | transcript | ENST00000509660.1 | protein_coding | 1/1 | 1408/1593 | 1408/1593 | 470/530 | chr4 | TogoVar | ||
USP29_chr19_57114985_57136926 | 57131414 | C | A | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(404): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0003a0001c0005others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(223): Show | 407 | 416 | 0.9784 | 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 | ||
VCX3B_chrX_8459830_8471510 | 8464991 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00280.hp1 HG00438.hp2 HG00558.hp1 others(134): Show |
a0000a0001a0003others(40): Show | a0000c0083a0001c0001a0001c0088others(48): Show | a0000c0083t0031a0001c0001t0001a0001c0001t0008others(61): Show | a0000c0083t0031g0037a0001c0001t0001g0001a0001c0001t0001g0014others(72): Show | 137 | 271 | 0.5055 | 0 | c.-14 others(6): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 1/2 | chrX | TogoVar | ||||||
VCX3B_chrX_8459830_8471510 | 8465472 | TCGGGACC others(27): Show |
T | frameshift_variant | HIGH | HG02129.hp1 | a0031 | a0031c0101 | a0031c0101t0003 | a0031c0101t0003g0040 | 1 | 271 | 0.0037 | -34 | c.23_ others(39): Show |
p.Ser others(3): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 2/3 | 330/1175 | 23/741 | 8/246 | chrX | TogoVar | ||
VDR_chr12_47836537_47909994 | 47879112 | A | G | start_lost | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(236): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(67): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0016others(234): Show | 239 | 358 | 0.6676 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
VDR | ENSG00000111424.12 | transcript | ENST00000549336.6 | protein_coding | 3/10 | 125/4616 | 2/1284 | 1/427 | chr12 | TogoVar | ||
VSIG10L_chr19_51326541_51347139 | 51332638 | T | TG | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(448): Show |
a0000a0002 | a0000c0001a0000c0002a0000c0003others(24): Show | a0000c0001t0001a0000c0001t0002a0000c0001t0006others(40): Show | a0000c0001t0001g0004a0000c0001t0001g0012a0000c0001t0001g0014others(104): Show | 451 | 452 | 0.9978 | 1 | c.257 others(5): Show |
p.Gln others(5): Show |
VSIG10L | ENSG00000186806.6 | transcript | ENST00000335624.5 | protein_coding | 10/10 | 2591/3689 | 2576/2604 | 859/867 | chr19 | TogoVar | ||
VWDE_chr7_12325885_12408865 | 12351642 | T | TA | frameshift_variant | HIGH | HG00099.hp1 HG00423.hp1 HG00558.hp1 others(69): Show |
a0002a0008a0011others(7): Show | a0002c0002a0002c0046a0002c0047others(9): Show | a0002c0002t0004a0002c0046t0004a0002c0047t0007others(11): Show | a0002c0002t0004g0001a0002c0002t0004g0002a0002c0002t0004g0003others(43): Show | 72 | 374 | 0.1925 | 1 | c.381 others(5): Show |
p.Lys others(6): Show |
VWDE | ENSG00000146530.15 | transcript | ENST00000275358.8 | protein_coding | 19/29 | 3965/5220 | 3816/4773 | 1272/1590 | chr7 | TogoVar | ||
VWDE_chr7_12325885_12408865 | 12375099 | G | A | stop_gained | HIGH | HG00099.hp1 HG00423.hp1 HG00558.hp1 others(70): Show |
a0002a0008a0011others(3): Show | a0002c0002a0002c0043a0002c0044others(12): Show | a0002c0002t0004a0002c0043t0005a0002c0044t0014others(12): Show | a0002c0002t0004g0001a0002c0002t0004g0002a0002c0002t0004g0003others(44): Show | 73 | 374 | 0.1952 | 0 | c.115 others(4): Show |
p.Arg others(4): Show |
VWDE | ENSG00000146530.15 | transcript | ENST00000275358.8 | protein_coding | 8/29 | 1302/5220 | 1153/4773 | 385/1590 | chr7 | TogoVar | ||
ZNF117_chr7_64966772_64996036 | 64978289 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(376): Show |
a0001a0002a0007others(4): Show | a0001c0001a0001c0007a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(54): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008others(233): Show | 379 | 444 | 0.8536 | 0 | c.128 others(4): Show |
p.Arg others(4): Show |
ZNF117 | ENSG00000152926.16 | transcript | ENST00000282869.11 | protein_coding | 4/4 | 2567/9084 | 1282/1452 | 428/483 | chr7 | TogoVar |