| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PRICKLE3_chrX_49169802_49191373 | 49176947 | GC | G | frameshift_variant | HIGH | HG02896.hp2 | a0004 | a0004c0007 | a0004c0007t0003 | a0004c0007t0003g0099 | 1 | 273 | 0.0037 | -1 | c.121 others(5): Show |
p.Ala others(5): Show |
PRICKLE3 | ENSG00000012211.13 | transcript | ENST00000599218.6 | protein_coding | 8/9 | 1286/2795 | 1210/1848 | 404/615 | chrX | TogoVar | ||
| PRICKLE3_chrX_49169802_49191373 | 49177033 | TG | T | frameshift_variant | HIGH | HG02896.hp2 | a0004 | a0004c0007 | a0004c0007t0003 | a0004c0007t0003g0099 | 1 | 273 | 0.0037 | -1 | c.112 others(5): Show |
p.Pro others(5): Show |
PRICKLE3 | ENSG00000012211.13 | transcript | ENST00000599218.6 | protein_coding | 8/9 | 1200/2795 | 1124/1848 | 375/615 | chrX | TogoVar | ||
| PRICKLE3_chrX_49169802_49191373 | 49177115 | A | AG | frameshift_variant | HIGH | HG02896.hp2 | a0004 | a0004c0007 | a0004c0007t0003 | a0004c0007t0003g0099 | 1 | 273 | 0.0037 | 1 | c.104 others(5): Show |
p.Leu others(5): Show |
PRICKLE3 | ENSG00000012211.13 | transcript | ENST00000599218.6 | protein_coding | 8/9 | 1118/2795 | 1042/1848 | 348/615 | chrX | TogoVar | ||
| PRICKLE3_chrX_49169802_49191373 | 49177148 | CG | C | frameshift_variant | HIGH | HG02896.hp2 | a0004 | a0004c0007 | a0004c0007t0003 | a0004c0007t0003g0099 | 1 | 273 | 0.0037 | -1 | c.100 others(5): Show |
p.Arg others(5): Show |
PRICKLE3 | ENSG00000012211.13 | transcript | ENST00000599218.6 | protein_coding | 8/9 | 1085/2795 | 1009/1848 | 337/615 | chrX | TogoVar | ||
| PRICKLE3_chrX_49169802_49191373 | 49178031 | C | CG | frameshift_variant | HIGH | HG02896.hp2 | a0004 | a0004c0007 | a0004c0007t0003 | a0004c0007t0003g0099 | 1 | 273 | 0.0037 | 1 | c.916 others(4): Show |
p.Arg others(5): Show |
PRICKLE3 | ENSG00000012211.13 | transcript | ENST00000599218.6 | protein_coding | 7/9 | 992/2795 | 916/1848 | 306/615 | chrX | TogoVar | ||
| PRPF3_chr1_150316533_150358233 | 150324880 | C | CTTTT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(303): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(297): Show | 306 | 362 | 0.8453 | 4 | c.-48 others(15): Show |
PRPF3 | ENSG00000117360.13 | transcript | ENST00000324862.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRSS48_chr4_151272161_151296862 | 151291451 | T | G | stop_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(322): Show |
a0000a0002 | a0000c0001a0000c0002a0000c0005others(4): Show | a0000c0001t0002a0000c0001t0004a0000c0001t0005others(6): Show | a0000c0001t0002g0001a0000c0001t0002g0008a0000c0001t0002g0010others(100): Show | 325 | 428 | 0.7594 | 0 | c.985 others(3): Show |
p.Ter others(11): Show |
PRSS48 | ENSG00000189099.12 | transcript | ENST00000455694.7 | protein_coding | 5/5 | 997/1408 | 985/987 | 329/328 | chr4 | TogoVar | ||
| PSORS1C1_chr6_31109800_31145092 | 31138723 | TC | T | frameshift_variant | HIGH | HG00639.hp2 HG00642.hp1 HG00733.hp1 others(31): Show |
a0003 | a0003c0003a0003c0009 | a0003c0003t0004a0003c0003t0009a0003c0003t0011others(5): Show | a0003c0003t0004g0058a0003c0003t0004g0059a0003c0003t0004g0215others(23): Show | 34 | 449 | 0.0757 | -1 | c.118 others(4): Show |
p.His others(4): Show |
PSORS1C1 | ENSG00000204540.11 | transcript | ENST00000259881.10 | protein_coding | 5/6 | 438/939 | 118/459 | 40/152 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
| PVALEF_chr17_81160507_81188166 | 81181121 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG02717.hp2 HG02886.hp2 HG02896.hp2 others(3): Show |
a0004a0005 | a0004c0006a0005c0010 | a0004c0006t0009a0005c0010t0017 | a0004c0006t0009g0034a0004c0006t0009g0058a0004c0006t0009g0105others(2): Show | 6 | 408 | 0.0147 | 0 | c.-10 others(6): Show |
PVALEF | ENSG00000225180.8 | transcript | ENST00000637878.2 | protein_coding | 3/6 | chr17 | 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 | ||||||
| R3HDM1_chr2_135526484_135730269 | 135724075 | A | AC | frameshift_variant | HIGH | HG00621.hp1 HG01175.hp2 HG01192.hp1 others(9): Show |
a0005a0006a0008others(1): Show | a0005c0006a0006c0005a0008c0007others(1): Show | a0005c0006t0001a0005c0006t0003a0006c0005t0001others(3): Show | a0005c0006t0001g0010a0005c0006t0001g0022a0005c0006t0001g0126others(9): Show | 12 | 232 | 0.0517 | 1 | c.319 others(5): Show |
p.Leu others(6): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 27/27 | 3593/4781 | 3194/3405 | 1065/1134 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
| RAMACL_chr6_166578009_166591678 | 166585488 | TCAAACAA others(1183): Show |
T | frameshift_variant others(1): Show |
HIGH | HG01070.hp1 HG01071.hp1 HG01167.hp1 others(40): Show |
a0000 | a0000c0000 | a0000c0000t0006a0000c0000t0009a0000c0000t0015others(3): Show | a0000c0000t0006g0000a0000c0000t0009g0000a0000c0000t0015g0000others(3): Show | 43 | 442 | 0.0973 | -1190 | c.-20 others(9): Show |
p.Met others(3): Show |
RAMACL | ENSG00000235272.3 | transcript | ENST00000444122.3 | protein_coding | 1/1 | 1190/3670 | 1/357 | 1/118 | chr6 | TogoVar | ||
| RECQL5_chr17_75621854_75672154 | 75630838 | C | CTG | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(144): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0021others(6): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0001others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0011others(111): Show | 147 | 378 | 0.3889 | 2 | c.158 others(15): Show |
RECQL5 | ENSG00000108469.15 | transcript | ENST00000317905.10 | protein_coding | 11/19 | chr17 | 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 | |
| RLN1_chr9_5329930_5344876 | 5339671 | T | A | stop_gained | HIGH | HG01099.hp2 HG02055.hp2 HG02083.hp2 others(6): Show |
a0003a0005a0007 | a0003c0005a0005c0007a0007c0009 | a0003c0005t0001a0003c0005t0006a0005c0007t0001others(2): Show | a0003c0005t0001g0009a0003c0005t0006g0016a0005c0007t0001g0053others(2): Show | 9 | 448 | 0.0201 | 0 | c.76A others(2): Show |
p.Lys others(3): Show |
RLN1 | ENSG00000107018.8 | transcript | ENST00000223862.2 | protein_coding | 1/2 | 206/1009 | 76/558 | 26/185 | chr9 | TogoVar | ||
| RWDD1_chr6_116566504_116602675 | 116590870 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00741.hp1 HG01243.hp1 HG02055.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0009others(3): Show | a0001c0001t0003g0021a0001c0001t0003g0032a0001c0001t0003g0064others(6): Show | 14 | 378 | 0.0370 | 1 | c.548 others(6): Show |
RWDD1 | ENSG00000111832.13 | transcript | ENST00000466444.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| 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 | |||||
| SAA1_chr11_18261264_18274967 | 18269807 | CAA | C | frameshift_variant | HIGH | HG02895.hp1 HG02896.hp1 HG02965.hp1 others(3): Show |
a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0004a0006c0008t0001g0074 | 6 | 442 | 0.0136 | -2 | c.323 others(9): Show |
p.Lys others(5): Show |
SAA1 | ENSG00000173432.13 | transcript | ENST00000356524.9 | protein_coding | 4/4 | 360/518 | 323/369 | 108/122 | INFO_REALIGN_3_PRIME | chr11 | 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 | ||
| 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 | ||
| SIGLEC12_chr19_51486227_51506800 | 51501649 | G | A | stop_gained | HIGH | HG00642.hp1 HG00733.hp2 HG00738.hp1 others(50): Show |
a0003 | a0003c0006a0003c0007a0003c0009others(12): Show | a0003c0006t0001a0003c0006t0004a0003c0007t0002others(15): Show | a0003c0006t0001g0153a0003c0006t0001g0156a0003c0006t0001g0157others(29): Show | 53 | 432 | 0.1227 | 0 | c.85C others(2): Show |
p.Gln others(3): Show |
SIGLEC12 | ENSG00000254521.7 | transcript | ENST00000291707.8 | protein_coding | 1/8 | 152/2269 | 85/1788 | 29/595 | 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 | |
| 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 | ||||||
| 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 | ||
| 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 | ||
| SLC6A13_chr12_215622_267836 | 241013 | AGAAAGAA others(3333): Show |
A | exon_loss_variant | HIGH | HG02896.hp1 | a0004 | a0004c0010 | a0004c0010t0001 | a0004c0010t0001g0162 | 1 | 442 | 0.0023 | -3340 | c.203 others(16): Show |
SLC6A13 | ENSG00000010379.16 | transcript | ENST00000343164.9 | protein_coding | 4/15 | chr12 | 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 | ||
| SLC7A3_chrX_70920579_70936096 | 70926134 | AT | A | frameshift_variant | HIGH | HG02896.hp1 | a0004 | a0004c0009 | a0004c0009t0002 | a0004c0009t0002g0055 | 1 | 312 | 0.0032 | -1 | c.166 others(5): Show |
p.Asn others(5): Show |
SLC7A3 | ENSG00000165349.12 | transcript | ENST00000374299.8 | protein_coding | 11/12 | 1809/2239 | 1664/1860 | 555/619 | chrX | TogoVar | ||
| SLCO1B1_chr12_21126194_21244796 | 21176898 | G | T | splice_donor_variant others(1): Show |
HIGH | HG02896.hp2 NA18522.hp2 |
a0002 | a0002c0005 | a0002c0005t0001a0002c0005t0002 | a0002c0005t0001g0016a0002c0005t0002g0011 | 2 | 318 | 0.0063 | 0 | c.481 others(5): Show |
SLCO1B1 | ENSG00000134538.3 | transcript | ENST00000256958.3 | protein_coding | 5/14 | chr12 | TogoVar | ||||||
| SLURP1_chr8_142735949_142747406 | 142741145 | A | G | stop_lost | HIGH | HG02896.hp1 HG02897.hp1 |
a0000 | a0000c0003 | a0000c0003t0001 | a0000c0003t0001g0009 | 2 | 402 | 0.0050 | 0 | c.310 others(3): Show |
p.Ter others(11): Show |
SLURP1 | ENSG00000126233.2 | transcript | ENST00000246515.2 | protein_coding | 3/3 | 331/527 | 310/312 | 104/103 | chr8 | 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 | ||
| SPATC1L_chr21_46156160_46189459 | 46183498 | CAGGGGAG others(309): Show |
C | splice_acceptor_variant others(3): Show |
HIGH | HG00099.hp2 HG01069.hp1 HG01071.hp1 others(29): Show |
a0001a0004a0008others(1): Show | a0001c0001a0001c0003a0004c0005others(2): Show | a0001c0001t0006a0001c0001t0008a0001c0003t0005others(5): Show | a0001c0001t0006g0010a0001c0001t0006g0035a0001c0001t0006g0064others(26): Show | 32 | 251 | 0.1275 | -316 | c.-95 others(12): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/5 | 683 | chr21 | TogoVar | |||||
| SPATC1L_chr21_46156160_46189459 | 46183529 | CTGCGGGG others(292): Show |
C | splice_acceptor_variant others(3): Show |
HIGH | HG01258.hp1 HG02559.hp2 HG02896.hp2 others(4): Show |
a0004a0005 | a0004c0005a0005c0006 | a0004c0005t0039a0005c0006t0010 | a0004c0005t0039g0176a0005c0006t0010g0019a0005c0006t0010g0172others(3): Show | 7 | 251 | 0.0279 | -299 | c.-95 others(12): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/5 | 714 | chr21 | TogoVar | |||||
| SPDYE21_chr7_67271941_67294005 | 67278874 | G | A | splice_donor_variant others(1): Show |
HIGH | HG01123.hp2 HG01256.hp2 HG01496.hp2 others(14): Show |
a0005 | a0005c0005 | a0005c0005t0004a0005c0005t0012a0005c0005t0018 | a0005c0005t0004g0009a0005c0005t0004g0024a0005c0005t0004g0056others(4): Show | 17 | 460 | 0.0370 | 0 | c.160 others(5): Show |
SPDYE21 | ENSG00000230358.6 | transcript | ENST00000424157.4 | protein_coding | 2/8 | chr7 | TogoVar | ||||||
| SPDYE3_chr7_100302702_100327196 | 100311134 | AAAAAAAG others(1383): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG02896.hp2 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0168 | 1 | 344 | 0.0029 | -1390 | c.545 others(15): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| SRGAP1_chr12_63839700_64167217 | 64097222 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG02145.hp2 HG02451.hp1 HG02559.hp2 others(15): Show |
a0001a0003 | a0001c0001a0001c0006a0001c0010others(1): Show | a0001c0001t0010a0001c0001t0118a0001c0001t0134others(15): Show | a0001c0001t0010g0157a0001c0001t0118g0078a0001c0001t0134g0119others(15): Show | 18 | 170 | 0.1059 | 1 | c.167 others(7): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | 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 | |||||
| STAG2_chrX_123956706_124107656 | 124051099 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp1 HG01106.hp1 HG01123.hp2 others(17): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0053a0001c0001t0001g0085others(17): Show | 20 | 276 | 0.0725 | 1 | c.101 others(7): Show |
STAG2 | ENSG00000101972.20 | transcript | ENST00000371145.8 | protein_coding | 11/34 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| STAG2_chrX_123956706_124107656 | 124061743 | C | CTT | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00735.hp2 HG01257.hp2 others(18): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0012a0001c0001t0001g0014a0001c0001t0001g0015others(18): Show | 21 | 276 | 0.0761 | 2 | c.153 others(15): Show |
STAG2 | ENSG00000101972.20 | transcript | ENST00000371145.8 | protein_coding | 16/34 | INFO_REALIGN_3_PRIME | chrX | 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 | ||
| 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 | ||
| TAPBP_chr6_33294694_33319078 | 33301384 | GCCAACAT others(1838): Show |
G | stop_lost others(2): Show |
HIGH | HG02896.hp2 HG02897.hp1 |
a0000 | a0000c0008 | a0000c0008t0017 | a0000c0008t0017g0032 | 2 | 385 | 0.0052 | -1845 | c.133 others(13): Show |
TAPBP | ENSG00000231925.14 | transcript | ENST00000434618.7 | protein_coding | 8/8 | 1759/3450 | 1336/1347 | 446/448 | chr6 | 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 |