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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | a0001c0001t0002g0010 a0001c0001t0002g0098 a0001c0001t0002g0116 others(187): Show |
253 | 388 | 0.6521 | -1 | c.182 others(7): Show |
PYGL | ENSG00000100504.17 | transcript | ENST00000216392.8 | protein_coding | 15/19 | chr14 | TogoVar | |||||||
RBMY1A1_chrY_21529879_21554326 | 21548906 | GCAGA | G | frameshift_variant | HIGH | NA19012.hp1 | a0015 | a0015c0014 | a0015c0014t0001 | a0015c0014t0001g0024 | 1 | 64 | 0.0156 | -4 | c.135 others(13): Show |
p.Cys others(5): Show |
RBMY1A1 | ENSG00000234414.8 | transcript | ENST00000382707.6 | protein_coding | 12/12 | 1502/1921 | 1350/1491 | 450/496 | chrY | TogoVar | |||
RECQL5_chr17_75621854_75672154 | 75630838 | C | CTG | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(143): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0021others(6): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0001others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(111): Show |
146 | 375 | 0.3893 | 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(228): Show |
a0002a0003a0005others(7): Show | a0002c0002a0002c0008a0002c0019others(16): Show | a0002c0002t0001a0002c0008t0001a0002c0019t0001others(16): Show | a0002c0002t0001g0003 a0002c0002t0001g0011 a0002c0002t0001g0014 others(130): Show |
231 | 436 | 0.5298 | 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 | ||
RNF32_chr7_156635774_156682130 | 156675865 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00438.hp2 HG00609.hp2 HG01168.hp2 others(52): Show |
a0002a0003a0004others(1): Show | a0002c0002a0003c0003a0004c0005others(1): Show | a0002c0002t0001a0003c0003t0002a0003c0003t0004others(3): Show | a0002c0002t0001g0076 a0003c0003t0002g0052 a0003c0003t0002g0189 others(41): Show |
55 | 446 | 0.1233 | 0 | c.852 others(5): Show |
RNF32 | ENSG00000105982.17 | transcript | ENST00000317955.10 | protein_coding | 8/8 | chr7 | TogoVar | |||||||
RXFP2_chr13_31734526_31808389 | 31786554 | T | TA | splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp1 HG00609.hp1 HG00673.hp2 others(50): Show |
a0001a0002a0008 | a0001c0013a0002c0003a0008c0007 | a0001c0013t0002a0002c0003t0003a0008c0007t0003 | a0001c0013t0002g0014 a0002c0003t0003g0023 a0002c0003t0003g0024 others(50): Show |
53 | 179 | 0.2961 | 1 | c.100 others(7): Show |
RXFP2 | ENSG00000133105.8 | transcript | ENST00000298386.7 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SCAPER_chr15_76342904_76910340 | 76883817 | T | C | start_lost | HIGH | HG00140.hp2 HG00544.hp2 HG00597.hp1 others(114): Show |
a0002a0011 | a0002c0002a0002c0003a0002c0011others(5): Show | a0002c0002t0002a0002c0003t0002a0002c0003t0005others(9): Show | a0002c0002t0002g0190 a0002c0002t0002g0194 a0002c0002t0002g0219 others(114): Show |
117 | 310 | 0.3774 | 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 | |||
SDR16C5_chr8_56295005_56325175 | 56305723 | C | T | splice_acceptor_variant others(1): Show |
HIGH | NA19012.hp1 NA19054.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 a0001c0001t0002g0150 |
2 | 396 | 0.0051 | 0 | c.711 others(5): Show |
SDR16C5 | ENSG00000170786.13 | transcript | ENST00000303749.8 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
SEMG1_chr20_45202033_45214768 | 45207913 | C | T | stop_gained | HIGH | NA19012.hp2 | a0013 | a0013c0023 | a0013c0023t0001 | a0013c0023t0001g0001 | 1 | 406 | 0.0025 | 0 | c.616 others(3): Show |
p.Gln others(4): Show |
SEMG1 | ENSG00000124233.12 | transcript | ENST00000372781.4 | protein_coding | 2/3 | 637/1622 | 616/1389 | 206/462 | chr20 | TogoVar | |||
SEMG1_chr20_45202033_45214768 | 45207922 | G | T | stop_gained | HIGH | NA19012.hp2 | a0013 | a0013c0023 | a0013c0023t0001 | a0013c0023t0001g0001 | 1 | 406 | 0.0025 | 0 | c.625 others(3): Show |
p.Glu others(4): Show |
SEMG1 | ENSG00000124233.12 | transcript | ENST00000372781.4 | protein_coding | 2/3 | 646/1622 | 625/1389 | 209/462 | chr20 | TogoVar | |||
SEMG1_chr20_45202033_45214768 | 45207928 | A | T | stop_gained | HIGH | NA19012.hp2 | a0013 | a0013c0023 | a0013c0023t0001 | a0013c0023t0001g0001 | 1 | 406 | 0.0025 | 0 | c.631 others(3): Show |
p.Lys others(4): Show |
SEMG1 | ENSG00000124233.12 | transcript | ENST00000372781.4 | protein_coding | 2/3 | 652/1622 | 631/1389 | 211/462 | chr20 | TogoVar | |||
SEMG1_chr20_45202033_45214768 | 45208000 | C | T | stop_gained | HIGH | NA19012.hp2 | a0013 | a0013c0023 | a0013c0023t0001 | a0013c0023t0001g0001 | 1 | 406 | 0.0025 | 0 | c.703 others(3): Show |
p.Gln others(4): Show |
SEMG1 | ENSG00000124233.12 | transcript | ENST00000372781.4 | protein_coding | 2/3 | 724/1622 | 703/1389 | 235/462 | chr20 | TogoVar | |||
SEMG1_chr20_45202033_45214768 | 45208007 | C | A | stop_gained | HIGH | NA19012.hp2 | a0013 | a0013c0023 | a0013c0023t0001 | a0013c0023t0001g0001 | 1 | 406 | 0.0025 | 0 | c.710 others(3): Show |
p.Ser others(4): Show |
SEMG1 | ENSG00000124233.12 | transcript | ENST00000372781.4 | protein_coding | 2/3 | 731/1622 | 710/1389 | 237/462 | chr20 | TogoVar | |||
SEMG1_chr20_45202033_45214768 | 45208036 | C | T | stop_gained | HIGH | NA19012.hp2 | a0013 | a0013c0023 | a0013c0023t0001 | a0013c0023t0001g0001 | 1 | 406 | 0.0025 | 0 | c.739 others(3): Show |
p.Gln others(4): Show |
SEMG1 | ENSG00000124233.12 | transcript | ENST00000372781.4 | protein_coding | 2/3 | 760/1622 | 739/1389 | 247/462 | chr20 | 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 | |||
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 | a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0010 others(140): Show |
181 | 453 | 0.3996 | 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 |
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 | |||
SLCO4A1_chr20_62637503_62677293 | 62668183 | C | T | stop_gained others(1): Show |
HIGH | NA19012.hp1 | a0019 | a0019c0018 | a0019c0018t0002 | a0019c0018t0002g0126 | 1 | 430 | 0.0023 | 0 | c.181 others(4): Show |
p.Arg others(4): Show |
SLCO4A1 | ENSG00000101187.16 | transcript | ENST00000217159.6 | protein_coding | 9/12 | 1957/2716 | 1810/2169 | 604/722 | chr20 | TogoVar | |||
SLFN12L_chr17_35459254_35542678 | 35479822 | AG | A | frameshift_variant | HIGH | HG00597.hp1 HG01106.hp1 HG01891.hp1 others(31): Show |
a0005 | a0005c0006a0005c0019 | a0005c0006t0005a0005c0006t0022a0005c0006t0035others(9): Show | a0005c0006t0005g0002 a0005c0006t0005g0061 a0005c0006t0005g0124 others(30): Show |
34 | 358 | 0.0950 | -1 | c.459 others(4): Show |
p.Leu others(5): Show |
SLFN12L | ENSG00000205045.12 | transcript | ENST00000628453.4 | protein_coding | 3/5 | 1170/13219 | 459/1839 | 153/612 | chr17 | TogoVar | |||
SPAG8_chr9_35804795_35817262 | 35812101 | CACCGCG | C | frameshift_variant others(3): Show |
HIGH | HG00558.hp1 HG00597.hp1 HG00609.hp1 others(11): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0003 | 14 | 417 | 0.0336 | -6 | c.41_ others(13): Show |
p.Ser others(4): Show |
SPAG8 | ENSG00000137098.14 | transcript | ENST00000396638.7 | protein_coding | 1/7 | 41/1458 | 14/485 | chr9 | TogoVar | ||||
SPDYE21_chr7_67271941_67294005 | 67281505 | T | TGGGTGGC | frameshift_variant | HIGH | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(128): Show |
a0002a0009a0013others(2): Show | a0002c0002a0002c0010a0009c0011others(3): Show | a0002c0002t0001a0002c0002t0009a0002c0002t0018others(6): Show | a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0005 others(50): Show |
131 | 458 | 0.2860 | 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 | ||
STRC_chr15_43594563_43623800 | 43614194 | ACCTGCAG others(5): Show |
A | frameshift_variant others(3): Show |
HIGH | HG02071.hp2 HG02148.hp2 HG02155.hp2 others(14): Show |
a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0003 a0004c0003t0001g0028 a0004c0003t0001g0095 others(3): Show |
17 | 372 | 0.0457 | -12 | c.230 others(23): Show |
p.Lys others(5): Show |
STRC | ENSG00000242866.10 | transcript | ENST00000450892.7 | protein_coding | 6/29 | 2303/5328 | 768/1775 | chr15 | TogoVar | ||||
TAAR9_chr6_132533277_132544336 | 132538470 | A | T | stop_gained | HIGH | HG00140.hp2 HG00639.hp2 HG00735.hp1 others(71): Show |
a0002 | a0002c0002a0002c0006 | a0002c0002t0001a0002c0006t0001 | a0002c0002t0001g0000 a0002c0006t0001g0000 |
74 | 428 | 0.1729 | 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 | |||
TAF11L10_chr5_17592232_17602828 | 17597711 | TGGGTGCT others(724): Show |
T | start_lost others(1): Show |
HIGH | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(147): Show |
a0002 | a0002c0002a0002c0006a0002c0007 | a0002c0002t0001a0002c0006t0001a0002c0007t0001 | a0002c0002t0001g0000 a0002c0006t0001g0000 a0002c0007t0001g0000 |
150 | 352 | 0.4261 | -731 | c.-61 others(8): Show |
p.Met others(10): Show |
TAF11L10 | ENSG00000284356.1 | transcript | ENST00000638842.1 | protein_coding | 1/1 | 117/597 | 1/597 | 1/198 | chr5 | 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 | ||||||
TBC1D31_chr8_123067707_123157153 | 123142457 | G | T | splice_donor_variant others(1): Show |
HIGH | HG00323.hp2 HG00423.hp2 HG00438.hp2 others(86): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0001c0008others(6): Show | a0001c0001t0001a0001c0003t0001a0001c0008t0001others(6): Show | a0001c0001t0001g0003 a0001c0001t0001g0043 a0001c0001t0001g0162 others(85): Show |
89 | 320 | 0.2781 | 0 | c.283 others(6): Show |
TBC1D31 | ENSG00000156787.17 | transcript | ENST00000287380.6 | protein_coding | 19/21 | chr8 | TogoVar | |||||||
TBC1D3B_chr17_36160683_36181636 | 36166119 | G | GGTGCACT others(36): Show |
frameshift_variant | HIGH | HG00609.hp2 HG01243.hp2 NA18946.hp2 others(2): Show |
a0013a0019 | a0013c0016a0013c0046a0019c0048 | a0013c0016t0009a0013c0016t0016a0013c0046t0009others(1): Show | a0013c0016t0009g0028 a0013c0016t0009g0030 a0013c0016t0016g0031 others(2): Show |
5 | 197 | 0.0254 | 43 | c.152 others(52): Show |
p.Pro others(5): Show |
TBC1D3B | ENSG00000274808.6 | transcript | ENST00000611257.5 | protein_coding | 14/14 | 1683/2120 | 1525/1650 | 509/549 | chr17 | TogoVar | |||
TBCD_chr17_82747065_82950914 | 82797739 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(115): Show |
a0001a0002a0006others(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 | ||||||
TCHHL1_chr1_152079141_152094064 | 152085716 | G | A | stop_gained | HIGH | HG00642.hp2 HG01167.hp1 HG01169.hp1 others(26): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 29 | 374 | 0.0775 | 0 | c.196 others(4): Show |
p.Gln others(4): Show |
TCHHL1 | ENSG00000182898.4 | transcript | ENST00000368806.2 | protein_coding | 3/3 | 2031/3606 | 1966/2715 | 656/904 | chr1 | TogoVar | |||
TDRD12_chr19_32714767_32834580 | 32826678 | AAC | A | splice_acceptor_variant others(2): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00558.hp1 others(112): Show |
a0002a0003a0005others(6): Show | a0002c0003a0002c0010a0003c0002others(7): Show | a0002c0003t0001a0002c0003t0011a0002c0003t0033others(20): Show | a0002c0003t0001g0003 a0002c0003t0001g0004 a0002c0003t0001g0098 others(110): Show |
115 | 378 | 0.3042 | -2 | c.382 others(15): Show |
TDRD12 | ENSG00000173809.18 | transcript | ENST00000639142.2 | protein_coding | 31/32 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TEX26_chr13_30927656_30980500 | 30954877 | TAAGTACT others(14670): Show |
T | exon_loss_variant | HIGH | NA19012.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0224 | 1 | 412 | 0.0024 | -14677 | c.313 others(16): Show |
TEX26 | ENSG00000175664.10 | transcript | ENST00000380473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TEX26_chr13_30927656_30980500 | 30956872 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(99): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 others(77): Show |
102 | 412 | 0.2476 | 0 | c.313 others(5): Show |
TEX26 | ENSG00000175664.10 | transcript | ENST00000380473.8 | protein_coding | 3/6 | chr13 | TogoVar | |||||||
TLR8_chrX_12901620_12928169 | 12906707 | A | G | start_lost others(1): Show |
HIGH | HG00099.hp2 HG00423.hp1 HG00438.hp1 others(162): Show |
a0001 | a0001c0001a0001c0004a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0008a0001c0004t0001others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 others(40): Show |
165 | 301 | 0.5482 | 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 | |||
TMEM116_chr12_111926298_112018165 | 111937159 | C | G | splice_donor_variant others(1): Show |
HIGH | NA19012.hp1 | a0009 | a0009c0005 | a0009c0005t0001 | a0009c0005t0001g0266 | 1 | 340 | 0.0029 | 0 | c.449 others(5): Show |
TMEM116 | ENSG00000198270.13 | transcript | ENST00000552374.7 | protein_coding | 7/10 | chr12 | TogoVar | |||||||
TMPRSS11A_chr4_67904395_67968493 | 67963391 | C | T | start_lost | HIGH | HG00280.hp2 HG00323.hp1 HG00544.hp1 others(97): Show |
a0002a0003 | a0002c0002a0002c0010a0002c0015others(7): Show | a0002c0002t0002a0002c0002t0011a0002c0002t0019others(13): Show | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0010 others(78): Show |
100 | 392 | 0.2551 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
TMPRSS11A | ENSG00000187054.16 | transcript | ENST00000508048.6 | protein_coding | 1/10 | 103/3304 | 3/1257 | 1/418 | chr4 | 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 | |||||||
TNK1_chr17_7376089_7394742 | 7387376 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00323.hp2 HG00438.hp2 others(53): Show |
a0001a0003a0008others(3): Show | a0001c0001a0001c0002a0001c0031others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0031t0001others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0047 others(12): Show |
56 | 450 | 0.1244 | 0 | c.139 others(6): Show |
TNK1 | ENSG00000174292.13 | transcript | ENST00000688331.1 | protein_coding | 9/12 | chr17 | TogoVar | |||||||
TOR1AIP1_chr1_179877285_179925076 | 179914055 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00544.hp2 HG02056.hp1 HG02071.hp2 others(16): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0001a0002c0001t0002 | a0001c0003t0001g0004 a0001c0003t0001g0006 a0001c0003t0001g0151 others(5): Show |
19 | 288 | 0.0660 | 0 | c.964 others(5): Show |
TOR1AIP1 | ENSG00000143337.19 | transcript | ENST00000606911.7 | protein_coding | 9/9 | chr1 | 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 | ||
TYW1B_chr7_72569513_72833200 | 72744551 | C | CA | frameshift_variant | HIGH | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(208): Show |
a0001a0004a0005others(5): Show | a0001c0001a0001c0002a0001c0006others(18): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(19): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(208): Show |
211 | 284 | 0.7430 | 1 | c.101 others(5): Show |
p.Glu others(5): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 8/14 | 1139/3117 | 1014/2007 | 338/668 | chr7 | TogoVar | |||
UNC93A_chr6_167286315_167321014 | 167296214 | G | A | stop_gained | HIGH | HG00408.hp2 HG00438.hp1 HG00544.hp2 others(51): Show |
a0004 | a0004c0004a0004c0008a0004c0011others(4): Show | a0004c0004t0003a0004c0004t0006a0004c0008t0001others(6): Show | a0004c0004t0003g0006 a0004c0004t0003g0011 a0004c0004t0003g0029 others(42): Show |
54 | 446 | 0.1211 | 0 | c.452 others(3): Show |
p.Trp others(4): Show |
UNC93A | ENSG00000112494.10 | transcript | ENST00000230256.8 | protein_coding | 3/8 | 627/2111 | 452/1374 | 151/457 | chr6 | TogoVar | |||
UPK3A_chr22_45279949_45300874 | 45289117 | G | A | stop_gained | HIGH | HG00408.hp1 HG00423.hp1 NA19012.hp2 others(2): Show |
a0004a0006 | a0004c0012a0004c0019a0006c0021 | a0004c0012t0001a0004c0019t0001a0006c0021t0001 | a0004c0012t0001g0007 a0004c0012t0001g0132 a0004c0012t0001g0135 others(2): Show |
5 | 442 | 0.0113 | 0 | c.545 others(3): Show |
p.Trp others(4): Show |
UPK3A | ENSG00000100373.10 | transcript | ENST00000216211.9 | protein_coding | 4/6 | 610/1084 | 545/864 | 182/287 | chr22 | 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 | |||
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 | |||
VTN_chr17_28362284_28375307 | 28369369 | G | A | stop_gained | HIGH | NA19012.hp2 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0014 | 1 | 388 | 0.0026 | 0 | c.589 others(3): Show |
p.Arg others(4): Show |
VTN | ENSG00000109072.14 | transcript | ENST00000226218.9 | protein_coding | 4/8 | 693/1626 | 589/1437 | 197/478 | chr17 | TogoVar | |||
VWDE_chr7_12325885_12408865 | 12351642 | T | TA | frameshift_variant | HIGH | HG00099.hp1 HG00423.hp1 HG00558.hp1 others(69): Show |
a0002a0009a0012others(7): Show | a0002c0002a0002c0042a0002c0043others(9): Show | a0002c0002t0002a0002c0042t0002a0002c0043t0002others(10): Show | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0007 others(36): Show |
72 | 372 | 0.1935 | 1 | c.381 others(5): Show |
p.Lys others(6): Show |
VWDE | ENSG00000146530.15 | transcript | ENST00000275358.8 | protein_coding | 19/29 | 3965/5220 | 3816/4773 | 1272/1590 | chr7 | TogoVar | |||
VWDE_chr7_12325885_12408865 | 12375099 | G | A | stop_gained | HIGH | HG00099.hp1 HG00423.hp1 HG00558.hp1 others(70): Show |
a0002a0009a0012others(3): Show | a0002c0002a0002c0039a0002c0040others(12): Show | a0002c0002t0002a0002c0039t0002a0002c0040t0002others(12): Show | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0007 others(37): Show |
73 | 372 | 0.1962 | 0 | c.115 others(4): Show |
p.Arg others(4): Show |
VWDE | ENSG00000146530.15 | transcript | ENST00000275358.8 | protein_coding | 8/29 | 1302/5220 | 1153/4773 | 385/1590 | chr7 | TogoVar | |||
WDR97_chr8_144102739_144123328 | 144111962 | TG | T | frameshift_variant | HIGH | HG00597.hp2 HG00673.hp1 HG02155.hp1 others(7): Show |
a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0002 | 10 | 346 | 0.0289 | -1 | c.271 others(5): Show |
p.Cys others(5): Show |
WDR97 | ENSG00000179698.14 | transcript | ENST00000323662.9 | protein_coding | 13/24 | 2726/6916 | 2714/4869 | 905/1622 | chr8 | TogoVar | |||
ZAN_chr7_100728595_100802797 | 100773735 | G | A | stop_gained | HIGH | HG00323.hp2 HG00423.hp1 HG00438.hp2 others(73): Show |
a0001a0021a0024others(3): Show | a0001c0001a0001c0006a0001c0011others(13): Show | a0001c0001t0001a0001c0006t0001a0001c0011t0001others(13): Show | a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0076 others(73): Show |
76 | 306 | 0.2484 | 0 | c.564 others(4): Show |
p.Trp others(5): Show |
ZAN | ENSG00000146839.19 | transcript | ENST00000613979.5 | protein_coding | 31/48 | 5845/8700 | 5649/8439 | 1883/2812 | chr7 | 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 |