| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PWWP4_chrX_153261152_153284145 | 153275935 | GA | G | frameshift_variant | HIGH | NA19063.hp2 | a0045 | a0045c0057 | a0045c0057t0001 | a0045c0057t0001g0016 | 1 | 141 | 0.0071 | -1 | c.432 others(5): Show |
p.Ser others(6): Show |
PWWP4 | ENSG00000278803.3 | transcript | ENST00000458091.5 | protein_coding | 4/4 | 4864/8071 | 4321/6186 | 1441/2061 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| PWWP4_chrX_153261152_153284145 | 153276096 | GA | G | frameshift_variant | HIGH | NA19063.hp2 | a0045 | a0045c0057 | a0045c0057t0001 | a0045c0057t0001g0016 | 1 | 141 | 0.0071 | -1 | c.448 others(5): Show |
p.Lys others(6): Show |
PWWP4 | ENSG00000278803.3 | transcript | ENST00000458091.5 | protein_coding | 4/4 | 5025/8071 | 4482/6186 | 1494/2061 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| PWWP4_chrX_153261152_153284145 | 153276215 | CG | C | frameshift_variant | HIGH | NA19063.hp2 | a0045 | a0045c0057 | a0045c0057t0001 | a0045c0057t0001g0016 | 1 | 141 | 0.0071 | -1 | c.460 others(5): Show |
p.Ala others(6): Show |
PWWP4 | ENSG00000278803.3 | transcript | ENST00000458091.5 | protein_coding | 4/4 | 5143/8071 | 4600/6186 | 1534/2061 | INFO_REALIGN_3_PRIME | chrX | 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 | a0001c0001t0002g0010a0001c0001t0002g0100a0001c0001t0002g0114others(188): Show | 253 | 390 | 0.6487 | -1 | c.182 others(7): Show |
PYGL | ENSG00000100504.17 | transcript | ENST00000216392.8 | protein_coding | 15/19 | chr14 | TogoVar | ||||||
| RABL2A_chr2_113622266_113648392 | 113635063 | CG | C | frameshift_variant | HIGH | HG00438.hp1 HG00621.hp2 HG00735.hp2 others(38): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0002t0010a0002c0002t0015others(2): Show | a0002c0002t0001g0003a0002c0002t0001g0005a0002c0002t0001g0025others(17): Show | 41 | 436 | 0.0940 | -1 | c.232 others(4): Show |
p.Ala others(4): Show |
RABL2A | ENSG00000144134.19 | transcript | ENST00000683472.1 | protein_coding | 5/9 | 420/2141 | 232/690 | 78/229 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
| RASAL3_chr19_15446624_15469544 | 15457747 | C | CA | frameshift_variant | HIGH | HG00408.hp1 HG01256.hp1 HG02293.hp1 others(5): Show |
a0003 | a0003c0007a0003c0012 | a0003c0007t0001a0003c0007t0002a0003c0007t0003others(2): Show | a0003c0007t0001g0099a0003c0007t0001g0100a0003c0007t0001g0137others(5): Show | 8 | 384 | 0.0208 | 1 | c.975 others(8): Show |
p.Val others(5): Show |
RASAL3 | ENSG00000105122.13 | transcript | ENST00000343625.12 | protein_coding | 9/18 | 1034/3266 | 975/3036 | 325/1011 | chr19 | TogoVar | ||
| RBMY1A1_chrY_21529879_21554326 | 21547026 | G | GT | frameshift_variant | HIGH | NA19063.hp1 | a0014 | a0014c0018 | a0014c0018t0007 | a0014c0018t0007g0047 | 1 | 64 | 0.0156 | 1 | c.888 others(4): Show |
p.Arg others(5): Show |
RBMY1A1 | ENSG00000234414.8 | transcript | ENST00000382707.6 | protein_coding | 9/12 | 1041/1921 | 889/1491 | 297/496 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |
| RBMY1A1_chrY_21529879_21554326 | 21548917 | C | CA | frameshift_variant | HIGH | NA19063.hp1 | a0014 | a0014c0018 | a0014c0018t0007 | a0014c0018t0007g0047 | 1 | 64 | 0.0156 | 1 | c.136 others(5): Show |
p.Arg others(5): Show |
RBMY1A1 | ENSG00000234414.8 | transcript | ENST00000382707.6 | protein_coding | 12/12 | 1516/1921 | 1364/1491 | 455/496 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |
| RBMY1A1_chrY_21529879_21554326 | 21549006 | T | TG | frameshift_variant | HIGH | NA19063.hp1 NA19089.hp1 |
a0012a0014 | a0012c0017a0014c0018 | a0012c0017t0008a0014c0018t0007 | a0012c0017t0008g0024a0014c0018t0007g0047 | 2 | 64 | 0.0313 | 1 | c.145 others(5): Show |
p.Glu others(5): Show |
RBMY1A1 | ENSG00000234414.8 | transcript | ENST00000382707.6 | protein_coding | 12/12 | 1606/1921 | 1454/1491 | 485/496 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |
| RHBG_chr1_156364211_156390219 | 156384556 | T | TC | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(229): Show |
a0002a0003a0005others(9): Show | a0002c0002a0002c0008a0003c0004others(16): Show | a0002c0002t0001a0002c0008t0001a0003c0004t0001others(16): Show | a0002c0002t0001g0003a0002c0002t0001g0011a0002c0002t0001g0014others(130): Show | 232 | 438 | 0.5297 | 1 | c.127 others(5): Show |
p.Asp others(5): Show |
RHBG | ENSG00000132677.13 | transcript | ENST00000537040.6 | protein_coding | 9/10 | 1311/1790 | 1272/1377 | 424/458 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
| RINL_chr19_38862830_38883275 | 38870242 | G | GCCGTCTC others(13): Show |
frameshift_variant | HIGH | NA19063.hp1 | a0010 | a0010c0013 | a0010c0013t0003 | a0010c0013t0003g0091 | 1 | 406 | 0.0025 | 20 | c.102 others(31): Show |
p.Ala others(5): Show |
RINL | ENSG00000187994.14 | transcript | ENST00000591812.2 | protein_coding | 9/12 | 1125/3058 | 1042/1701 | 348/566 | chr19 | TogoVar | ||
| RXFP2_chr13_31734526_31808389 | 31786554 | T | TAAA | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp2 HG00544.hp1 HG00558.hp2 others(101): Show |
a0001a0006a0007 | a0001c0001a0001c0004a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(101): Show | 104 | 386 | 0.2694 | 3 | c.100 others(16): Show |
RXFP2 | ENSG00000133105.8 | transcript | ENST00000298386.7 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| SBF2_chr11_9773668_10299219 | 9839670 | TTGTGGGG others(88): Show |
T | frameshift_variant others(3): Show |
HIGH | HG01975.hp2 HG01981.hp2 HG01993.hp1 others(8): Show |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0009a0003c0004t0003g0011a0003c0004t0003g0022others(8): Show | 11 | 224 | 0.0491 | -95 | c.325 others(107): Show |
p.Val others(6): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 26/40 | 3432/7450 | 3257/5550 | 1086/1849 | chr11 | 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 | ||
| SERINC4_chr15_43789162_43805220 | 43797216 | A | AAG | frameshift_variant | HIGH | HG00423.hp2 HG02083.hp2 NA18941.hp2 others(11): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0002t0006a0002c0003t0001 | a0002c0002t0001g0009a0002c0002t0006g0022a0002c0003t0001g0020others(2): Show | 14 | 382 | 0.0367 | 2 | c.772 others(9): Show |
p.Met others(5): Show |
SERINC4 | ENSG00000184716.14 | transcript | ENST00000319327.7 | protein_coding | 6/12 | 1006/2629 | 772/1557 | 258/518 | chr15 | TogoVar | ||
| SERPINA4_chr14_94556442_94574906 | 94561495 | G | A | splice_donor_variant others(1): Show |
HIGH | NA19063.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0030 | 1 | 428 | 0.0023 | 0 | c.-18 others(5): Show |
SERPINA4 | ENSG00000100665.12 | transcript | ENST00000557004.6 | protein_coding | 1/4 | chr14 | 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 | ||
| 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 | ||||||
| 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 | ||
| 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 | ||
| SLC22A31_chr16_89190761_89205537 | 89198106 | GGGGCCCC others(11): Show |
G | splice_donor_variant others(3): Show |
HIGH | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(28): Show |
a0004a0017 | a0004c0006a0004c0009a0017c0022 | a0004c0006t0001a0004c0009t0001a0017c0022t0001 | a0004c0006t0001g0006a0004c0006t0001g0029a0004c0009t0001g0008others(1): Show | 31 | 428 | 0.0724 | -18 | c.920 others(28): Show |
p.Gln others(19): Show |
SLC22A31 | ENSG00000259803.8 | transcript | ENST00000682282.1 | protein_coding | 7/9 | 920/1341 | 307/446 | chr16 | TogoVar | |||
| SLC28A1_chr15_84879662_84950798 | 84886670 | A | C | splice_acceptor_variant others(1): Show |
HIGH | NA19063.hp2 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0169 | 1 | 396 | 0.0025 | 0 | c.-13 others(6): Show |
SLC28A1 | ENSG00000156222.12 | transcript | ENST00000394573.6 | protein_coding | 1/18 | chr15 | 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 | ||
| 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 | ||
| SLFN13_chr17_35430096_35453766 | 35445639 | G | T | stop_gained | HIGH | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(56): Show |
a0002 | a0002c0002a0002c0014a0002c0023others(6): Show | a0002c0002t0003a0002c0002t0004a0002c0002t0011others(17): Show | a0002c0002t0003g0003a0002c0002t0003g0022a0002c0002t0003g0060others(25): Show | 59 | 456 | 0.1294 | 0 | c.42C others(2): Show |
p.Tyr others(3): Show |
SLFN13 | ENSG00000154760.14 | transcript | ENST00000285013.11 | protein_coding | 3/6 | 247/8398 | 42/2694 | 14/897 | chr17 | 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 | ||
| SOX9_chr17_72116020_72131416 | 72123889 | A | AC | frameshift_variant | HIGH | HG01496.hp1 HG02071.hp2 HG02145.hp1 others(8): Show |
a0000 | a0000c0003a0000c0008a0000c0015 | a0000c0003t0001a0000c0003t0002a0000c0003t0003others(6): Show | a0000c0003t0001g0002a0000c0003t0002g0001a0000c0003t0003g0001others(6): Show | 11 | 402 | 0.0274 | 1 | c.103 others(5): Show |
p.Gln others(5): Show |
SOX9 | ENSG00000125398.8 | transcript | ENST00000245479.3 | protein_coding | 3/3 | 1410/3931 | 1038/1530 | 346/509 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
| SPANXA2_chrX_141584708_141595762 | 141589808 | TC | T | frameshift_variant | HIGH | NA19063.hp1 | a0015 | a0015c0015 | a0015c0015t0001 | a0015c0015t0001g0010 | 1 | 185 | 0.0054 | -1 | c.45d others(3): Show |
p.Cys others(4): Show |
SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 1/2 | 105/408 | 45/294 | 15/97 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| SPANXA2_chrX_141584708_141595762 | 141589837 | A | AG | frameshift_variant others(1): Show |
HIGH | NA19063.hp1 | a0015 | a0015c0015 | a0015c0015t0001 | a0015c0015t0001g0010 | 1 | 185 | 0.0054 | 1 | c.70_ others(6): Show |
p.Met others(4): Show |
SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 1/2 | 131/408 | 71/294 | 24/97 | chrX | TogoVar | ||
| SPATA31F3_chr9_34884066_34900764 | 34893048 | GC | G | frameshift_variant | HIGH | HG00099.hp2 HG00642.hp2 HG00733.hp2 others(40): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0005a0004c0004t0001g0042a0004c0004t0001g0043 | 43 | 434 | 0.0991 | -1 | c.355 others(4): Show |
p.Ala others(5): Show |
SPATA31F3 | ENSG00000187791.13 | transcript | ENST00000340783.11 | protein_coding | 4/5 | 397/967 | 355/627 | 119/208 | chr9 | 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 | |
| SPESP1_chr15_68925525_68951811 | 68946585 | T | G | stop_lost | HIGH | NA18955.hp1 NA19063.hp1 |
a0000 | a0000c0006 | a0000c0006t0001 | a0000c0006t0001g0005 | 2 | 402 | 0.0050 | 0 | c.105 others(4): Show |
p.Ter others(11): Show |
SPESP1 | ENSG00000258484.4 | transcript | ENST00000310673.4 | protein_coding | 2/2 | 1180/1406 | 1051/1053 | 351/350 | chr15 | TogoVar | ||
| SS18L1_chr20_62138769_62187514 | 62163517 | C | CCACCCAA others(60): Show |
frameshift_variant others(1): Show |
HIGH | NA19063.hp1 | a0004 | a0004c0015 | a0004c0015t0001 | a0004c0015t0001g0287 | 1 | 316 | 0.0032 | 67 | c.616 others(74): Show |
p.Gln others(5): Show |
SS18L1 | ENSG00000184402.15 | transcript | ENST00000331758.8 | protein_coding | 6/11 | 669/4549 | 617/1191 | 206/396 | chr20 | TogoVar | ||
| TAMALIN_chr12_52001946_52020889 | 52014908 | G | GC | frameshift_variant | HIGH | HG00423.hp1 HG00597.hp2 HG00621.hp1 others(32): Show |
a0002a0005 | a0002c0002a0002c0006a0005c0013 | a0002c0002t0001a0002c0002t0002a0002c0006t0001others(1): Show | a0002c0002t0001g0001a0002c0002t0001g0002a0002c0002t0001g0003others(15): Show | 35 | 380 | 0.0921 | 1 | c.902 others(4): Show |
p.Pro others(5): Show |
TAMALIN | ENSG00000161835.11 | transcript | ENST00000293662.9 | protein_coding | 8/8 | 977/1952 | 903/1188 | 301/395 | INFO_REALIGN_3_PRIME | chr12 | 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 | |||||
| TBKBP1_chr17_47689161_47717052 | 47709405 | A | AC | frameshift_variant | HIGH | HG02970.hp2 HG03516.hp2 NA18981.hp1 others(6): Show |
a0002a0005a0014others(1): Show | a0002c0024a0005c0009a0005c0015others(2): Show | a0002c0024t0001a0005c0009t0001a0005c0015t0001others(2): Show | a0002c0024t0001g0083a0005c0009t0001g0005a0005c0009t0001g0059others(6): Show | 9 | 386 | 0.0233 | 1 | c.167 others(5): Show |
p.Ala others(5): Show |
TBKBP1 | ENSG00000198933.11 | transcript | ENST00000578982.6 | protein_coding | 9/10 | 1743/3342 | 1675/1848 | 559/615 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
| TEX14_chr17_58551678_58697045 | 58601812 | CCTTTAGT others(3): Show |
C | frameshift_variant | HIGH | NA19063.hp2 | a0012 | a0012c0019 | a0012c0019t0001 | a0012c0019t0001g0298 | 1 | 324 | 0.0031 | -10 | c.166 others(19): Show |
p.Ile others(5): Show |
TEX14 | ENSG00000121101.16 | transcript | ENST00000349033.10 | protein_coding | 13/32 | 1779/4797 | 1662/4356 | 554/1451 | chr17 | TogoVar | ||
| TEX26_chr13_30927656_30980500 | 30956984 | C | T | stop_gained | HIGH | NA19063.hp2 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0005 | 1 | 414 | 0.0024 | 0 | c.424 others(3): Show |
p.Gln others(4): Show |
TEX26 | ENSG00000175664.10 | transcript | ENST00000380473.8 | protein_coding | 4/7 | 484/1523 | 424/870 | 142/289 | 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 | ||
| 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 | ||||||
| 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 | ||||||
| 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 | ||||||
| TSPYL2_chrX_53077367_53093540 | 53085307 | A | AAT | frameshift_variant | HIGH | NA19063.hp1 | a0017 | a0017c0013 | a0017c0013t0014 | a0017c0013t0014g0035 | 1 | 258 | 0.0039 | 2 | c.122 others(11): Show |
p.Glu others(5): Show |
TSPYL2 | ENSG00000184205.14 | transcript | ENST00000375442.8 | protein_coding | 5/7 | 1357/2815 | 1225/2082 | 409/693 | chrX | TogoVar | ||
| TSPYL2_chrX_53077367_53093540 | 53085940 | G | GA | frameshift_variant | HIGH | NA19063.hp1 | a0017 | a0017c0013 | a0017c0013t0014 | a0017c0013t0014g0035 | 1 | 258 | 0.0039 | 1 | c.155 others(5): Show |
p.Asn others(5): Show |
TSPYL2 | ENSG00000184205.14 | transcript | ENST00000375442.8 | protein_coding | 6/7 | 1683/2815 | 1551/2082 | 517/693 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| TSPYL2_chrX_53077367_53093540 | 53086156 | C | CA | frameshift_variant | HIGH | NA19063.hp1 | a0017 | a0017c0013 | a0017c0013t0014 | a0017c0013t0014g0035 | 1 | 258 | 0.0039 | 1 | c.176 others(5): Show |
p.Asn others(5): Show |
TSPYL2 | ENSG00000184205.14 | transcript | ENST00000375442.8 | protein_coding | 6/7 | 1899/2815 | 1767/2082 | 589/693 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| TSPYL2_chrX_53077367_53093540 | 53086281 | A | AT | frameshift_variant | HIGH | NA19063.hp1 | a0017 | a0017c0013 | a0017c0013t0014 | a0017c0013t0014g0035 | 1 | 258 | 0.0039 | 1 | c.188 others(10): Show |
p.Glu others(5): Show |
TSPYL2 | ENSG00000184205.14 | transcript | ENST00000375442.8 | protein_coding | 6/7 | 2022/2815 | 1890/2082 | 630/693 | chrX | TogoVar | ||
| TSPYL2_chrX_53077367_53093540 | 53087935 | G | GA | frameshift_variant others(1): Show |
HIGH | NA19063.hp1 | a0017 | a0017c0013 | a0017c0013t0014 | a0017c0013t0014g0035 | 1 | 258 | 0.0039 | 1 | c.207 others(5): Show |
p.Ter others(5): Show |
TSPYL2 | ENSG00000184205.14 | transcript | ENST00000375442.8 | protein_coding | 7/7 | 2212/2815 | 2080/2082 | 694/693 | INFO_REALIGN_3_PRIME | chrX | TogoVar |