| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PLK5_chr19_1519077_1541046 | 1534043 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(207): Show |
a0001a0006a0007others(2): Show | a0001c0001a0001c0016a0001c0020others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(32): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(160): Show | 210 | 430 | 0.4884 | 0 | c.825 others(5): Show |
PLK5 | ENSG00000185988.15 | transcript | ENST00000454744.7 | protein_coding | 13/13 | chr19 | TogoVar | ||||||
| PLXNB3_chrX_153759249_153784341 | 153765534 | G | GT | frameshift_variant others(1): Show |
HIGH | HG03486.hp1 | a0001 | a0001c0007 | a0001c0007t0012 | a0001c0007t0012g0048 | 1 | 308 | 0.0033 | 1 | c.-1d others(3): Show |
p.Met others(3): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 2/36 | 122/6153 | 1/5730 | 1/1909 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| POLR3B_chr12_106352748_106515198 | 106427179 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00642.hp1 others(55): Show |
a0001a0005 | a0001c0001a0001c0011a0005c0016 | a0001c0001t0001a0001c0001t0009a0001c0011t0001others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011others(55): Show | 58 | 304 | 0.1908 | 1 | c.110 others(7): Show |
POLR3B | ENSG00000013503.10 | transcript | ENST00000228347.9 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| POMZP3_chr7_76604986_76632279 | 76611468 | CA | C | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(209): Show |
a0000 | a0000c0002a0000c0004a0000c0005others(6): Show | a0000c0002t0002a0000c0002t0003a0000c0002t0004others(25): Show | a0000c0002t0002g0003a0000c0002t0002g0007a0000c0002t0002g0014others(183): Show | 212 | 423 | 0.5012 | -1 | c.560 others(4): Show |
p.Leu others(5): Show |
POMZP3 | ENSG00000146707.15 | transcript | ENST00000310842.9 | protein_coding | 6/7 | 1283/1528 | 560/564 | 187/187 | chr7 | TogoVar | ||
| POTED_chr21_13604777_13650823 | 13628440 | TAGCC | T | frameshift_variant others(1): Show |
HIGH | HG02647.hp2 HG02970.hp1 HG02976.hp2 others(6): Show |
a0005 | a0005c0006 | a0005c0006t0009a0005c0006t0041 | a0005c0006t0009g0020a0005c0006t0009g0222a0005c0006t0009g0223others(3): Show | 9 | 416 | 0.0216 | -4 | c.119 others(13): Show |
p.Pro others(5): Show |
POTED | ENSG00000166351.11 | transcript | ENST00000299443.6 | protein_coding | 7/11 | 1644/6464 | 1192/1755 | 398/584 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |
| PPIG_chr2_169579351_169646406 | 169584491 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp1 HG00438.hp2 others(85): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0002a0001c0001t0007a0001c0001t0009others(11): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0006others(80): Show | 88 | 382 | 0.2304 | 0 | c.-70 others(5): Show |
PPIG | ENSG00000138398.17 | transcript | ENST00000260970.8 | protein_coding | 1/13 | chr2 | TogoVar | ||||||
| PRAM1_chr19_8485056_8507640 | 8502591 | T | C | start_lost | HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(125): Show |
a0002a0003a0005others(36): Show | a0002c0002a0003c0003a0005c0005others(46): Show | a0002c0002t0002a0003c0003t0002a0005c0005t0002others(47): Show | a0002c0002t0002g0008a0002c0002t0002g0049a0002c0002t0002g0050others(99): Show | 128 | 422 | 0.3033 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
PRAM1 | ENSG00000133246.12 | transcript | ENST00000423345.5 | protein_coding | 1/10 | 50/2195 | 1/2013 | 1/670 | chr19 | TogoVar | ||
| PRAMEF33_chr1_13298539_13313907 | 13307108 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(242): Show |
a0001a0003a0022others(2): Show | a0001c0001a0001c0003a0001c0005others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(36): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0034others(62): Show | 245 | 417 | 0.5875 | 0 | c.758 others(3): Show |
p.Trp others(4): Show |
PRAMEF33 | ENSG00000237700.2 | transcript | ENST00000437300.2 | protein_coding | 3/4 | 831/1518 | 758/1425 | 253/474 | chr1 | TogoVar | ||
| PRDM9_chr5_23502609_23533093 | 23527196 | G | A | stop_gained | HIGH | HG03486.hp2 | a0025 | a0025c0060 | a0025c0060t0001 | a0025c0060t0001g0079 | 1 | 424 | 0.0024 | 0 | c.210 others(4): Show |
p.Trp others(4): Show |
PRDM9 | ENSG00000164256.11 | transcript | ENST00000296682.4 | protein_coding | 11/11 | 2296/3193 | 2108/2685 | 703/894 | chr5 | 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 | |||||
| PRR14_chr16_30645960_30661413 | 30655092 | A | AC | frameshift_variant | HIGH | HG00438.hp1 HG01192.hp1 HG02056.hp2 others(6): Show |
a0004a0005a0007 | a0004c0005a0004c0009a0005c0007others(1): Show | a0004c0005t0001a0004c0009t0001a0005c0007t0001others(1): Show | a0004c0005t0001g0001a0004c0005t0001g0005a0004c0005t0001g0016others(3): Show | 9 | 296 | 0.0304 | 1 | c.112 others(5): Show |
p.Arg others(5): Show |
PRR14 | ENSG00000156858.12 | transcript | ENST00000300835.9 | protein_coding | 8/12 | 1346/2078 | 1128/1758 | 376/585 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
| PRRT1B_chr9_131540523_131564815 | 131545620 | A | AGGCAGGA others(8): Show |
splice_donor_variant others(1): Show |
HIGH | HG01167.hp1 HG01891.hp2 HG02451.hp2 others(11): Show |
a0005a0006 | a0005c0006a0006c0009 | a0005c0006t0007a0005c0006t0014a0005c0006t0022others(5): Show | a0005c0006t0007g0081a0005c0006t0007g0082a0005c0006t0014g0024others(9): Show | 14 | 458 | 0.0306 | 15 | c.12_ others(22): Show |
PRRT1B | ENSG00000283526.2 | transcript | ENST00000636672.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | 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 | ||
| PSG7_chr19_42919132_42942207 | 42935542 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(373): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0002a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(32): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(319): Show | 376 | 416 | 0.9039 | 0 | c.292 others(3): Show |
p.Arg others(3): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/6 | 423/2067 | 292/1260 | 98/419 | chr19 | TogoVar | ||
| PTEN_chr10_87858625_87976930 | 87960876 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(84): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(27): Show | a0001c0001t0002g0009a0001c0001t0002g0144a0001c0001t0002g0211others(84): Show | 87 | 322 | 0.2702 | 1 | c.802 others(6): Show |
PTEN | ENSG00000171862.15 | transcript | ENST00000371953.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PTPN23_chr3_47376021_47418435 | 47411089 | A | AC | frameshift_variant | HIGH | HG00408.hp1 HG00544.hp1 HG00558.hp2 others(132): Show |
a0002a0004a0005others(6): Show | a0002c0003a0002c0008a0002c0009others(19): Show | a0002c0003t0001a0002c0008t0001a0002c0008t0002others(20): Show | a0002c0003t0001g0001a0002c0003t0001g0002a0002c0003t0001g0012others(118): Show | 135 | 332 | 0.4066 | 1 | c.329 others(5): Show |
p.Arg others(6): Show |
PTPN23 | ENSG00000076201.16 | transcript | ENST00000265562.5 | protein_coding | 20/25 | 3373/5237 | 3297/4911 | 1099/1636 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
| PTPRQ_chr12_80439235_80685273 | 80484408 | T | TTTTC | splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp1 HG01074.hp2 HG01192.hp2 others(31): Show |
a0003a0005a0009others(14): Show | a0003c0003a0003c0079a0005c0004others(16): Show | a0003c0003t0001a0003c0003t0002a0003c0079t0001others(20): Show | a0003c0003t0001g0105a0003c0003t0001g0107a0003c0003t0002g0104others(31): Show | 34 | 178 | 0.1910 | 4 | c.118 others(17): Show |
PTPRQ | ENSG00000139304.16 | transcript | ENST00000644991.3 | protein_coding | 8/44 | INFO_REALIGN_3_PRIME | chr12 | 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 | ||||||
| RAX2_chr19_3764089_3777228 | 3772011 | C | CTG | splice_acceptor_variant others(1): Show |
HIGH | HG02055.hp2 HG02109.hp2 HG02280.hp2 others(9): Show |
a0000a0001 | a0000c0002a0001c0001 | a0000c0002t0005a0001c0001t0002a0001c0001t0005others(2): Show | a0000c0002t0005g0033a0001c0001t0002g0014a0001c0001t0005g0034others(2): Show | 12 | 436 | 0.0275 | 2 | c.-26 others(15): Show |
RAX2 | ENSG00000173976.16 | transcript | ENST00000555633.3 | protein_coding | 1/2 | chr19 | 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 | |||||
| S100G_chrX_16645158_16659670 | 16650997 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG00733.hp1 HG01069.hp1 HG01070.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0044others(6): Show | 22 | 348 | 0.0632 | 0 | c.-8- others(4): Show |
S100G | ENSG00000169906.5 | transcript | ENST00000380200.3 | protein_coding | 1/2 | chrX | 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 | ||
| SCART1_chr10_133448945_133474760 | 133457333 | TC | T | frameshift_variant | HIGH | HG00408.hp1 HG00544.hp2 HG00609.hp2 others(90): Show |
a0003a0004 | a0003c0003a0003c0007a0003c0008others(16): Show | a0003c0003t0003a0003c0007t0003a0003c0008t0003others(20): Show | a0003c0003t0003g0005a0003c0003t0003g0007a0003c0003t0003g0023others(62): Show | 93 | 434 | 0.2143 | -1 | c.444 others(4): Show |
p.Glu others(5): Show |
SCART1 | ENSG00000214279.13 | transcript | ENST00000640237.2 | protein_coding | 3/12 | 497/4929 | 444/3084 | 148/1027 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
| SCART1_chr10_133448945_133474760 | 133464740 | CTGGGGTG | C | frameshift_variant | HIGH | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(99): Show |
a0003a0004a0009others(8): Show | a0003c0003a0003c0007a0003c0008others(24): Show | a0003c0003t0003a0003c0007t0003a0003c0008t0003others(28): Show | a0003c0003t0003g0005a0003c0003t0003g0007a0003c0003t0003g0023others(69): Show | 102 | 434 | 0.2350 | -7 | c.211 others(16): Show |
p.Val others(5): Show |
SCART1 | ENSG00000214279.13 | transcript | ENST00000640237.2 | protein_coding | 7/12 | 2170/4929 | 2117/3084 | 706/1027 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
| SCGB1C1_chr11_188078_199575 | 193155 | G | A | splice_donor_variant others(1): Show |
HIGH | HG03486.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0011 | 1 | 354 | 0.0028 | 0 | c.55+ others(4): Show |
SCGB1C1 | ENSG00000188076.3 | transcript | ENST00000342878.3 | protein_coding | 1/2 | chr11 | TogoVar | ||||||
| SEMA4F_chr2_74649247_74688841 | 74679958 | C | T | stop_gained | HIGH | HG03486.hp2 | a0010 | a0010c0013 | a0010c0013t0005 | a0010c0013t0005g0140 | 1 | 296 | 0.0034 | 0 | c.206 others(4): Show |
p.Arg others(4): Show |
SEMA4F | ENSG00000135622.13 | transcript | ENST00000357877.7 | protein_coding | 14/14 | 2192/6075 | 2062/2313 | 688/770 | chr2 | 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 | ||
| SIGLEC5_chr19_51605960_51635401 | 51627678 | G | A | stop_gained | HIGH | HG01884.hp2 HG02258.hp1 HG02280.hp1 others(9): Show |
a0007 | a0007c0012a0007c0018a0007c0046 | a0007c0012t0001a0007c0012t0017a0007c0018t0001others(1): Show | a0007c0012t0001g0302a0007c0012t0001g0304a0007c0012t0001g0305others(7): Show | 12 | 414 | 0.0290 | 0 | c.106 others(4): Show |
p.Arg others(4): Show |
SIGLEC5 | ENSG00000268500.7 | transcript | ENST00000683636.1 | protein_coding | 6/9 | 1132/2993 | 1066/1656 | 356/551 | 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 | ||
| 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 | ||
| 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 | ||
| 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 | ||
| 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 | |||||
| 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 | 87918138 | C | CGTTGTGA others(3466): Show |
frameshift_variant others(1): Show |
HIGH | HG03486.hp2 | a0013 | a0013c0048 | a0013c0048t0001 | a0013c0048t0001g0001 | 1 | 388 | 0.0026 | 3473 | c.172 others(3480): Show |
p.Ser others(4): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 1/4 | 202/3779 | 173/3567 | 58/1188 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
| SPATC1L_chr21_46156160_46189459 | 46183550 | GCGGGGAG others(240): Show |
G | splice_acceptor_variant others(3): Show |
HIGH | HG01074.hp2 HG01884.hp1 HG01884.hp2 others(21): Show |
a0002a0007 | a0002c0002a0007c0007 | a0002c0002t0003a0002c0002t0026a0002c0002t0027others(1): Show | a0002c0002t0003g0004a0002c0002t0003g0009a0002c0002t0003g0042others(17): Show | 24 | 251 | 0.0956 | -247 | c.-95 others(12): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/5 | 735 | chr21 | TogoVar | |||||
| SPDYE3_chr7_100302702_100327196 | 100310737 | ACAACAGA others(1383): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(13): Show |
a0002a0003a0009 | a0002c0005a0002c0006a0003c0012others(1): Show | a0002c0005t0001a0002c0006t0001a0003c0012t0001others(1): Show | a0002c0005t0001g0005a0002c0005t0001g0007a0002c0005t0001g0141others(3): Show | 16 | 344 | 0.0465 | -1390 | c.544 others(15): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| STAG2_chrX_123956706_124107656 | 124061743 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG01106.hp1 HG01167.hp1 HG01496.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0013a0001c0001t0001g0055others(13): Show | 16 | 276 | 0.0580 | 1 | c.153 others(7): Show |
STAG2 | ENSG00000101972.20 | transcript | ENST00000371145.8 | protein_coding | 16/34 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| STKLD1_chr9_133371366_133411096 | 133376561 | G | A | splice_donor_variant others(1): Show |
HIGH | HG03486.hp1 | a0001 | a0001c0035 | a0001c0035t0011 | a0001c0035t0011g0031 | 1 | 356 | 0.0028 | 0 | c.87+ others(4): Show |
STKLD1 | ENSG00000198870.8 | transcript | ENST00000371957.4 | protein_coding | 1/17 | chr9 | TogoVar | ||||||
| SULT1C2_chr2_108283895_108314915 | 108308425 | GA | G | frameshift_variant | HIGH | HG02109.hp1 HG02257.hp2 HG02451.hp1 others(4): Show |
a0003a0010 | a0003c0003a0010c0011 | a0003c0003t0001a0010c0011t0001 | a0003c0003t0001g0011a0003c0003t0001g0165a0010c0011t0001g0076 | 7 | 342 | 0.0205 | -1 | c.853 others(4): Show |
p.Met others(5): Show |
SULT1C2 | ENSG00000198203.10 | transcript | ENST00000251481.11 | protein_coding | 8/8 | 1050/2539 | 853/891 | 285/296 | chr2 | 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 | ||
| 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 | |
| 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 | ||
| TAS2R8_chr12_10801051_10812286 | 10806935 | C | A | stop_gained | HIGH | HG01884.hp2 HG03195.hp1 HG03486.hp1 |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0000 | 3 | 409 | 0.0073 | 0 | c.46G others(2): Show |
p.Glu others(3): Show |
TAS2R8 | ENSG00000121314.3 | transcript | ENST00000240615.3 | protein_coding | 1/1 | 352/1236 | 46/930 | 16/309 | 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 |