view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC22A31_chr16_89190761_89205537 | 89196258 | GCCTGGCC others(74): Show |
G | frameshift_variant others(3): Show |
HIGH | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(169): Show |
a0002a0005a0006others(3): Show | a0002c0002a0002c0004a0002c0007others(9): Show | a0002c0002t0001a0002c0002t0002a0002c0004t0001others(10): Show | a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0014 others(30): Show |
172 | 426 | 0.4038 | -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(313): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0009a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0005g0001 others(13): Show |
316 | 410 | 0.7707 | 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 |
a0002a0014 | a0002c0002a0002c0015a0014c0024 | a0002c0002t0002a0002c0015t0002a0014c0024t0002 | a0002c0002t0002g0002 a0002c0002t0002g0008 a0002c0002t0002g0012 others(18): Show |
95 | 426 | 0.2230 | -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 | |||
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 | a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0010 others(103): Show |
140 | 282 | 0.4965 | 1 | c.-24 others(7): Show |
SMAD5 | ENSG00000113658.18 | transcript | ENST00000545279.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SMCO2_chr12_27441736_27507185 | 27495209 | GTTTTCTC others(7014): Show |
G | exon_loss_variant | HIGH | HG00099.hp2 HG01069.hp2 HG01071.hp2 others(18): Show |
a0003a0004 | a0003c0004a0003c0009a0003c0013others(1): Show | a0003c0004t0005a0003c0004t0006a0003c0009t0005others(2): Show | a0003c0004t0005g0023 a0003c0004t0005g0032 a0003c0004t0005g0252 others(15): Show |
21 | 358 | 0.0587 | -7021 | c.658 others(12): Show |
SMCO2 | ENSG00000165935.10 | transcript | ENST00000535986.2 | protein_coding | 8/9 | chr12 | TogoVar | |||||||
SPATA22_chr17_3435019_3476819 | 3471678 | GCA | G | splice_donor_variant others(2): Show |
HIGH | HG00140.hp2 HG00733.hp1 HG01358.hp1 others(46): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0012others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0020 others(39): Show |
49 | 418 | 0.1172 | -2 | c.-74 others(13): Show |
SPATA22 | ENSG00000141255.13 | transcript | ENST00000572969.6 | protein_coding | 1/8 | chr17 | TogoVar | |||||||
SPATA31D4_chr9_81923428_81939998 | 81930207 | TTTTTTTT others(9784): Show |
T | exon_loss_variant others(5): Show |
HIGH | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 358 | 0.0028 | -9791 | c.293 others(12): Show |
SPATA31D4 | ENSG00000189357.9 | transcript | ENST00000419782.5 | protein_coding | 4/4 | chr9 | 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 |
a0001a0004a0009others(1): Show | a0001c0001a0001c0003a0004c0005others(2): Show | a0001c0001t0002a0001c0001t0008a0001c0003t0004others(5): Show | a0001c0001t0002g0011 a0001c0001t0002g0035 a0001c0001t0002g0062 others(25): Show |
32 | 226 | 0.1416 | -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 | a0004c0005t0007a0005c0006t0001 | a0004c0005t0007g0162 a0005c0006t0001g0015 a0005c0006t0001g0107 others(3): Show |
7 | 250 | 0.0280 | -299 | c.-95 others(12): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/5 | 714 | chr21 | TogoVar | ||||||
SPDYE3_chr7_100302702_100327196 | 100313637 | GATTGCTT others(1385): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00639.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0002t0002a0001c0002t0005others(2): Show | a0001c0001t0002g0005 a0001c0002t0002g0005 a0001c0002t0002g0020 others(8): Show |
21 | 342 | 0.0614 | -1392 | c.982 others(16): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPSB2_chr12_6865935_6878303 | 6872998 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG00423.hp1 HG00544.hp2 HG00609.hp2 others(74): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0016 others(6): Show |
77 | 396 | 0.1944 | 0 | c.-96 others(5): Show |
SPSB2 | ENSG00000111671.10 | transcript | ENST00000524270.6 | protein_coding | 1/2 | 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 | a0001c0001t0001g0017 a0001c0001t0001g0041 a0001c0001t0001g0060 others(59): Show |
98 | 342 | 0.2866 | 1 | c.468 others(6): Show |
SRSF3 | ENSG00000112081.17 | transcript | ENST00000373715.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SRSF3_chr6_36589362_36610600 | 36601940 | C | CTTTTTTT | splice_acceptor_variant others(1): Show |
HIGH | HG01891.hp1 HG02559.hp2 HG02723.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0009a0001c0001t0020 | a0001c0001t0006g0154 a0001c0001t0009g0039 a0001c0001t0009g0040 others(1): Show |
6 | 250 | 0.0240 | 7 | c.468 others(18): Show |
SRSF3 | ENSG00000112081.17 | transcript | ENST00000373715.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TBC1D19_chr4_26579084_26761223 | 26735441 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(270): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(269): Show |
273 | 307 | 0.8893 | 1 | c.108 others(7): Show |
TBC1D19 | ENSG00000109680.11 | transcript | ENST00000264866.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr4 | 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(8): Show | a0001c0001a0001c0002a0001c0014others(17): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0026others(31): Show | a0001c0001t0002g0223 a0001c0001t0002g0262 a0001c0001t0002g0301 others(115): Show |
118 | 268 | 0.4403 | 1 | c.772 others(6): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 7/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TEX44_chr2_231587864_231599276 | 231594078 | T | TGCGCTAC others(12): Show |
frameshift_variant | HIGH | HG02976.hp1 HG03209.hp1 |
a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0000 | 2 | 436 | 0.0046 | 19 | c.112 others(28): Show |
p.Leu others(5): Show |
TEX44 | ENSG00000177673.4 | transcript | ENST00000313965.4 | protein_coding | 1/1 | 1235/1413 | 1147/1188 | 383/395 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
TGFBR3L_chr19_7909830_7924097 | 7918131 | T | C | splice_donor_variant others(1): Show |
HIGH | HG01934.hp2 HG02976.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 3 | 444 | 0.0068 | 0 | c.*5+ others(4): Show |
TGFBR3L | ENSG00000260001.7 | transcript | ENST00000565886.2 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
THNSL1_chr10_25011612_25031664 | 25023170 | G | GA | splice_acceptor_variant others(1): Show |
HIGH | HG02055.hp1 HG02055.hp2 HG02109.hp1 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0022 a0001c0003t0003g0036 a0001c0003t0003g0037 others(2): Show |
9 | 410 | 0.0220 | 1 | c.-48 others(6): Show |
THNSL1 | ENSG00000185875.13 | transcript | ENST00000376356.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
TIGD6_chr5_149988118_150005654 | 149995316 | CT | C | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(189): Show |
a0001a0004a0009others(5): Show | a0001c0001a0001c0017a0004c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0026 others(26): Show |
192 | 434 | 0.4424 | -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 | |||
TIGD6_chr5_149988118_150005654 | 149996157 | TC | T | frameshift_variant | HIGH | HG00735.hp1 HG01069.hp1 HG01071.hp1 others(33): Show |
a0004a0006 | a0004c0004a0004c0006a0004c0007others(2): Show | a0004c0004t0006a0004c0004t0009a0004c0004t0017others(5): Show | a0004c0004t0006g0009 a0004c0004t0006g0016 a0004c0004t0006g0049 others(8): Show |
36 | 434 | 0.0829 | -1 | c.191 others(4): Show |
p.Gly others(4): Show |
TIGD6 | ENSG00000164296.7 | transcript | ENST00000296736.4 | protein_coding | 2/2 | 453/3493 | 191/1566 | 64/521 | chr5 | TogoVar | |||
TLR5_chr1_223104404_223148248 | 223111858 | G | A | stop_gained | HIGH | HG00738.hp2 HG01516.hp2 HG02071.hp2 others(9): Show |
a0004 | a0004c0005a0004c0016 | a0004c0005t0002a0004c0005t0003a0004c0005t0006others(3): Show | a0004c0005t0002g0110 a0004c0005t0002g0128 a0004c0005t0003g0060 others(9): Show |
12 | 366 | 0.0328 | 0 | c.117 others(4): Show |
p.Arg others(4): Show |
TLR5 | ENSG00000187554.14 | transcript | ENST00000642603.2 | protein_coding | 6/6 | 1781/4235 | 1174/2577 | 392/858 | chr1 | TogoVar | |||
TMEM216_chr11_61387587_61403846 | 61398269 | G | C | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(172): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0005t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(23): Show |
175 | 267 | 0.6554 | 0 | c.432 others(5): Show |
TMEM216 | ENSG00000187049.11 | transcript | ENST00000515837.7 | protein_coding | 4/4 | chr11 | TogoVar | |||||||
TMPRSS6_chr22_37060436_37114713 | 37069345 | C | CTGGGG | splice_acceptor_variant others(1): Show |
HIGH | HG01109.hp2 HG01243.hp2 HG01496.hp1 others(13): Show |
a0001a0002a0012others(1): Show | a0001c0004a0001c0005a0002c0001others(4): Show | a0001c0004t0001a0001c0004t0005a0001c0004t0006others(8): Show | a0001c0004t0001g0038 a0001c0004t0005g0260 a0001c0004t0006g0007 others(12): Show |
16 | 197 | 0.0812 | 5 | c.184 others(18): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 15/17 | chr22 | 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 | a0001c0005t0001g0005 a0001c0005t0001g0088 a0001c0005t0001g0149 others(112): Show |
125 | 306 | 0.4085 | -5 | c.184 others(18): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 15/17 | chr22 | TogoVar | |||||||
TNFAIP8_chr5_119351019_119404688 | 119392800 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp1 HG00741.hp2 HG01496.hp2 others(39): Show |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0015a0001c0002t0018others(22): Show | a0001c0002t0007g0211 a0001c0002t0007g0215 a0001c0002t0007g0220 others(37): Show |
42 | 381 | 0.1102 | 1 | c.32- others(5): Show |
TNFAIP8 | ENSG00000145779.8 | transcript | ENST00000504771.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TPSB2_chr16_1223336_1235184 | 1229237 | C | CG | frameshift_variant | HIGH | HG00140.hp2 HG00642.hp2 HG00735.hp2 others(20): Show |
a0004 | a0004c0004a0004c0014 | a0004c0004t0002a0004c0004t0008a0004c0014t0002 | a0004c0004t0002g0004 a0004c0004t0002g0012 a0004c0004t0008g0034 others(1): Show |
23 | 341 | 0.0674 | 1 | c.452 others(4): Show |
p.Met others(5): Show |
TPSB2 | ENSG00000197253.14 | transcript | ENST00000606293.5 | protein_coding | 4/6 | 475/1165 | 452/828 | 151/275 | chr16 | TogoVar | |||
TPSD1_chr16_1251069_1264008 | 1256558 | AG | A | frameshift_variant | HIGH | HG00140.hp1 HG00423.hp2 HG00639.hp2 others(69): Show |
a0002a0004 | a0002c0002a0002c0012a0002c0018others(3): Show | a0002c0002t0002a0002c0002t0008a0002c0002t0016others(23): Show | a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0002g0014 others(28): Show |
72 | 268 | 0.2687 | -1 | c.127 others(4): Show |
p.Glu others(4): Show |
TPSD1 | ENSG00000095917.15 | transcript | ENST00000211076.5 | protein_coding | 2/5 | 339/1573 | 127/729 | 43/242 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
TRIM51G_chr11_48970498_48988885 | 48978871 | C | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(270): Show |
a0001a0003a0005others(5): Show | a0001c0001a0001c0006a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0003others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(71): Show |
273 | 422 | 0.6469 | 0 | c.738 others(5): Show |
TRIM51G | ENSG00000220948.6 | transcript | ENST00000534741.3 | protein_coding | 4/6 | chr11 | TogoVar | |||||||
TRIOBP_chr22_37692048_37781556 | 37724034 | G | GTAGAGCT others(283): Show |
frameshift_variant | HIGH | HG02976.hp1 | a0037 | a0037c0032 | a0037c0032t0041 | a0037c0032t0041g0263 | 1 | 113 | 0.0088 | 290 | c.161 others(299): Show |
p.Ser others(5): Show |
TRIOBP | ENSG00000100106.22 | transcript | ENST00000644935.1 | protein_coding | 7/24 | 1828/10085 | 1617/7098 | 539/2365 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
TSPAN19_chr12_85009317_85041277 | 85029771 | CA | C | frameshift_variant | HIGH | HG02257.hp1 HG02486.hp2 HG02976.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0027 a0002c0002t0001g0095 a0002c0002t0001g0135 others(1): Show |
6 | 348 | 0.0172 | -1 | c.86d others(3): Show |
p.Met others(4): Show |
TSPAN19 | ENSG00000231738.11 | transcript | ENST00000532498.7 | protein_coding | 3/9 | 187/1018 | 86/747 | 29/248 | chr12 | TogoVar | |||
TTC24_chr1_156574723_156592719 | 156583439 | GC | G | frameshift_variant | HIGH | HG00741.hp2 HG01123.hp1 HG01168.hp1 others(23): Show |
a0003a0008a0010 | a0003c0004a0008c0010a0010c0011 | a0003c0004t0001a0003c0004t0006a0003c0004t0012others(2): Show | a0003c0004t0001g0006 a0003c0004t0001g0017 a0003c0004t0001g0024 others(9): Show |
26 | 440 | 0.0591 | -1 | c.114 others(5): Show |
p.Gln others(5): Show |
TTC24 | ENSG00000187862.13 | transcript | ENST00000368236.8 | protein_coding | 5/11 | 1184/2958 | 1144/1749 | 382/582 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
UBR2_chr6_42559029_42698505 | 42644198 | T | TA | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp2 HG00544.hp1 HG00597.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0169 others(21): Show |
24 | 337 | 0.0712 | 1 | c.209 others(7): Show |
UBR2 | ENSG00000024048.11 | transcript | ENST00000372901.2 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
UGT2B10_chr4_68810994_68837023 | 68822269 | A | C | splice_acceptor_variant others(1): Show |
HIGH | HG00609.hp2 HG01167.hp2 HG01884.hp2 others(60): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0023a0004c0006others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(6): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 others(18): Show |
63 | 460 | 0.1370 | 0 | c.868 others(5): Show |
UGT2B10 | ENSG00000109181.12 | transcript | ENST00000265403.12 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
UNC13C_chr15_53973441_54633605 | 54338354 | T | TTGTC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00738.hp1 HG01192.hp2 others(42): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(34): Show | a0001c0001t0001g0044 a0001c0001t0002g0102 a0001c0001t0007g0016 others(42): Show |
45 | 156 | 0.2885 | 4 | c.458 others(17): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 16/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNKL_chr16_1358205_1419704 | 1397263 | TCCCCGTG others(254): Show |
T | frameshift_variant others(3): Show |
HIGH | HG00099.hp1 HG00280.hp1 HG00423.hp1 others(38): Show |
a0002 | a0002c0002a0002c0006a0002c0009others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(14): Show | a0002c0002t0001g0025 a0002c0002t0001g0027 a0002c0002t0001g0028 others(38): Show |
41 | 299 | 0.1371 | -261 | c.735 others(11): Show |
p.Ser others(5): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 6/15 | 779/5250 | 735/2202 | 245/733 | chr16 | TogoVar | |||
USP29_chr19_57114985_57136926 | 57131414 | C | A | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(403): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0003a0001c0005others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(35): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(223): Show |
406 | 414 | 0.9807 | 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 |
a0001a0002a0003others(22): Show | a0001c0001a0001c0009a0001c0042others(26): Show | a0001c0001t0001a0001c0001t0021a0001c0009t0002others(44): Show | a0001c0001t0001g0008 a0001c0001t0021g0008 a0001c0009t0002g0001 others(61): Show |
137 | 270 | 0.5074 | 0 | c.-14 others(6): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 1/2 | chrX | TogoVar | |||||||
VDR_chr12_47836537_47909994 | 47879112 | A | G | start_lost | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(236): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(67): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0018 others(233): Show |
239 | 356 | 0.6713 | 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 | |||
WWTR1_chr3_149512235_149663025 | 149520808 | C | CTTAA | frameshift_variant others(1): Show |
HIGH | HG00408.hp2 HG00438.hp1 HG01167.hp2 others(39): Show |
a0001a0002a0007 | a0001c0002a0002c0004a0007c0007 | a0001c0002t0003a0001c0002t0015a0001c0002t0017others(6): Show | a0001c0002t0003g0034 a0001c0002t0003g0040 a0001c0002t0003g0046 others(39): Show |
42 | 332 | 0.1265 | 4 | c.119 others(13): Show |
p.Ter others(5): Show |
WWTR1 | ENSG00000018408.15 | transcript | ENST00000360632.8 | protein_coding | 7/7 | 1463/5037 | 1199/1203 | 400/400 | chr3 | TogoVar | |||
ZAN_chr7_100728595_100802797 | 100773853 | TG | T | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(147): Show |
a0002a0005a0006others(24): Show | a0002c0003a0002c0012a0002c0017others(65): Show | a0002c0003t0001a0002c0012t0001a0002c0017t0001others(65): Show | a0002c0003t0001g0055 a0002c0003t0001g0061 a0002c0003t0001g0108 others(147): Show |
150 | 306 | 0.4902 | -1 | c.576 others(5): Show |
p.Cys others(6): Show |
ZAN | ENSG00000146839.19 | transcript | ENST00000613979.5 | protein_coding | 31/48 | 5964/8700 | 5768/8439 | 1923/2812 | chr7 | TogoVar | |||
ZC3H12B_chrX_65029826_65512887 | 65497128 | T | TA | splice_acceptor_variant others(1): Show |
HIGH | HG00735.hp2 HG00738.hp1 HG01081.hp1 others(55): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0002g0002 a0001c0001t0002g0130 a0001c0001t0002g0131 others(55): Show |
58 | 165 | 0.3515 | 1 | c.609 others(6): Show |
ZC3H12B | ENSG00000102053.13 | transcript | ENST00000338957.5 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ZFYVE19_chr15_40802089_40820084 | 40807701 | T | TGGGGC | frameshift_variant | HIGH | HG00099.hp2 HG00544.hp2 HG00558.hp1 others(115): Show |
a0002a0005a0006 | a0002c0002a0002c0015a0002c0016others(3): Show | a0002c0002t0003a0002c0002t0005a0002c0002t0007others(7): Show | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0009 others(23): Show |
118 | 380 | 0.3105 | 5 | c.118 others(12): Show |
p.Arg others(4): Show |
ZFYVE19 | ENSG00000166140.17 | transcript | ENST00000355341.8 | protein_coding | 1/11 | 624/2775 | 123/1416 | 41/471 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
ZNF117_chr7_64966772_64996036 | 64978289 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(375): Show |
a0001a0002a0007others(4): Show | a0001c0001a0001c0007a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(52): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0010 others(134): Show |
378 | 442 | 0.8552 | 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 | |||
ZNF404_chr19_43867365_43888964 | 43873778 | G | GGTGCAAA others(1883): Show |
stop_gained others(1): Show |
HIGH | HG02109.hp1 HG02280.hp2 HG02559.hp2 others(8): Show |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0010 a0003c0003t0003g0027 a0003c0003t0003g0068 others(2): Show |
11 | 373 | 0.0295 | 1890 | c.435 others(1897): Show |
p.His others(1903): Show |
ZNF404 | ENSG00000176222.10 | transcript | ENST00000587539.2 | protein_coding | 3/3 | 435/1849 | 435/1659 | 145/552 | chr19 | TogoVar | |||
ZNF417_chr19_57900774_57921592 | 57909335 | G | A | stop_gained | HIGH | HG02486.hp1 HG02572.hp1 HG02976.hp1 others(1): Show |
a0008 | a0008c0008 | a0008c0008t0029a0008c0008t0030a0008c0008t0053others(1): Show | a0008c0008t0029g0065 a0008c0008t0030g0066 a0008c0008t0053g0064 others(1): Show |
4 | 434 | 0.0092 | 0 | c.943 others(3): Show |
p.Gln others(4): Show |
ZNF417 | ENSG00000173480.11 | transcript | ENST00000312026.6 | protein_coding | 3/3 | 1124/4685 | 943/1728 | 315/575 | chr19 | TogoVar | |||
ZNF419_chr19_57482750_57501098 | 57492212 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(136): Show |
a0002a0007 | a0002c0002a0002c0004a0002c0006others(4): Show | a0002c0002t0004a0002c0002t0005a0002c0002t0006others(32): Show | a0002c0002t0004g0003 a0002c0002t0004g0026 a0002c0002t0004g0027 others(59): Show |
139 | 416 | 0.3341 | 0 | c.298 others(5): Show |
ZNF419 | ENSG00000105136.22 | transcript | ENST00000221735.12 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
ZNF443_chr19_12424706_12446021 | 12430157 | T | A | stop_lost | HIGH | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(106): Show |
a0002a0004a0007others(2): Show | a0002c0002a0002c0007a0002c0016others(4): Show | a0002c0002t0002a0002c0002t0006a0002c0002t0007others(7): Show | a0002c0002t0002g0002 a0002c0002t0002g0017 a0002c0002t0002g0025 others(33): Show |
109 | 408 | 0.2672 | 0 | c.201 others(4): Show |
p.Ter others(11): Show |
ZNF443 | ENSG00000180855.16 | transcript | ENST00000301547.10 | protein_coding | 4/4 | 2122/2573 | 2015/2016 | 672/671 | chr19 | TogoVar | |||
ZNF474_chr5_122124546_122158569 | 122152940 | AT | A | frameshift_variant | HIGH | HG00423.hp2 HG00609.hp1 HG00621.hp1 others(82): Show |
a0003a0004a0006others(2): Show | a0003c0003a0003c0013a0004c0004others(4): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(11): Show | a0003c0003t0001g0002 a0003c0003t0001g0003 a0003c0003t0001g0007 others(76): Show |
85 | 384 | 0.2214 | -1 | c.953 others(4): Show |
p.Leu others(5): Show |
ZNF474 | ENSG00000164185.7 | transcript | ENST00000296600.5 | protein_coding | 2/2 | 1303/1929 | 953/1095 | 318/364 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
ZNF480_chr19_52292169_52330922 | 52300416 | CTG | C | frameshift_variant | HIGH | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(216): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(4): Show | a0001c0002t0001a0001c0002t0006a0001c0002t0010others(11): Show | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0016 others(153): Show |
219 | 376 | 0.5824 | -2 | c.9_1 others(6): Show |
p.Cys others(3): Show |
ZNF480 | ENSG00000198464.14 | transcript | ENST00000595962.6 | protein_coding | 2/5 | 83/4746 | 9/1608 | 3/535 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
ZNF492_chr19_22629324_22672671 | 22634474 | GGT | G | splice_donor_variant others(2): Show |
HIGH | HG01081.hp2 HG01884.hp2 HG01891.hp1 others(36): Show |
a0004a0006a0009others(1): Show | a0004c0004a0006c0006a0009c0008others(1): Show | a0004c0004t0005a0004c0004t0006a0004c0004t0007others(8): Show | a0004c0004t0005g0209 a0004c0004t0005g0212 a0004c0004t0005g0213 others(36): Show |
39 | 364 | 0.1071 | -2 | c.-94 others(13): Show |
ZNF492 | ENSG00000229676.3 | transcript | ENST00000456783.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |