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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PTPN23_chr3_47376021_47418435 | 47411089 | A | AC | frameshift_variant | HIGH | HG00408.hp1 HG00544.hp1 HG00558.hp2 others(132): Show |
a0002a0004a0005others(6): Show | a0002c0004a0002c0008a0002c0009others(17): Show | a0002c0004t0001a0002c0008t0001a0002c0008t0003others(18): Show | a0002c0004t0001g0001 a0002c0004t0001g0002 a0002c0004t0001g0012 others(118): Show |
135 | 330 | 0.4091 | 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 | ||
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 | |||||||
PZP_chr12_9143840_9213395 | 9181030 | G | A | stop_gained | HIGH | HG00423.hp1 HG02074.hp1 HG02083.hp2 others(14): Show |
a0005 | a0005c0008a0005c0019 | a0005c0008t0001a0005c0019t0001 | a0005c0008t0001g0022 a0005c0008t0001g0023 a0005c0008t0001g0132 others(12): Show |
17 | 332 | 0.0512 | 0 | c.179 others(4): Show |
p.Gln others(4): Show |
PZP | ENSG00000126838.10 | transcript | ENST00000261336.7 | protein_coding | 15/36 | 1846/4635 | 1792/4449 | 598/1482 | chr12 | TogoVar | |||
RASA4_chr7_102574646_102621756 | 102588790 | AAGTAGCT others(3162): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG00733.hp2 HG01346.hp1 HG01517.hp1 others(12): Show |
a0007a0010a0023others(3): Show | a0007c0005a0007c0046a0010c0009others(5): Show | a0007c0005t0006a0007c0005t0009a0007c0005t0039others(8): Show | a0007c0005t0006g0080 a0007c0005t0006g0103 a0007c0005t0006g0106 others(12): Show |
15 | 130 | 0.1154 | -3169 | c.183 others(18): Show |
RASA4 | ENSG00000105808.19 | transcript | ENST00000262940.12 | protein_coding | 17/21 | chr7 | TogoVar | |||||||
RFX8_chr2_101392359_101480112 | 101422474 | T | G | splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp2 HG00544.hp2 HG00558.hp1 others(42): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0002a0004c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0109 others(36): Show |
45 | 350 | 0.1286 | 0 | c.73- others(4): Show |
RFX8 | ENSG00000196460.14 | transcript | ENST00000428343.6 | protein_coding | 2/11 | chr2 | 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 | ||
RLN1_chr9_5329930_5344876 | 5339671 | T | A | stop_gained | HIGH | HG01099.hp2 HG02055.hp2 HG02083.hp2 others(6): Show |
a0003a0005a0006 | a0003c0005a0005c0007a0006c0009 | a0003c0005t0001a0003c0005t0006a0005c0007t0001others(2): Show | a0003c0005t0001g0009 a0003c0005t0006g0016 a0005c0007t0001g0053 others(2): Show |
9 | 446 | 0.0202 | 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 | |||
RXFP2_chr13_31734526_31808389 | 31786554 | T | TAAA | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp2 HG00544.hp1 HG00558.hp2 others(101): Show |
a0001a0005a0007 | a0001c0001a0001c0004a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(100): Show |
104 | 230 | 0.4522 | 3 | c.100 others(16): Show |
RXFP2 | ENSG00000133105.8 | transcript | ENST00000298386.7 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SCIN_chr7_12565720_12665182 | 12570789 | G | T | start_lost | HIGH | HG02083.hp1 | a0014 | a0014c0024 | a0014c0024t0044 | a0014c0024t0044g0085 | 1 | 370 | 0.0027 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 1/16 | 70/9682 | 3/2148 | 1/715 | chr7 | TogoVar | |||
SERINC4_chr15_43789162_43805220 | 43797216 | A | AAG | frameshift_variant | HIGH | HG00423.hp2 HG02083.hp2 NA18941.hp2 others(11): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0002t0005a0002c0003t0001 | a0002c0002t0001g0009 a0002c0002t0005g0022 a0002c0003t0001g0020 others(2): Show |
14 | 380 | 0.0368 | 2 | c.772 others(9): Show |
p.Met others(5): Show |
SERINC4 | ENSG00000184716.14 | transcript | ENST00000319327.7 | protein_coding | 6/12 | 1006/2629 | 772/1557 | 258/518 | chr15 | TogoVar | |||
SERPINB11_chr18_63697960_63728893 | 63712604 | G | T | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(200): Show |
a0001a0004a0013 | a0001c0002a0001c0005a0001c0009others(15): Show | a0001c0002t0001a0001c0005t0002a0001c0005t0006others(18): Show | a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0014 others(79): Show |
203 | 420 | 0.4833 | 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 | |||
SLC22A10_chr11_63284903_63316783 | 63290453 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(159): Show |
a0002a0011 | a0002c0002a0002c0009a0002c0012others(4): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0007others(7): Show | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0005 others(78): Show |
162 | 400 | 0.4050 | 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 | |||
SLC22A24_chr11_63074940_63149221 | 63081015 | A | C | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(264): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0005a0001c0007others(11): Show | a0001c0001t0001a0001c0005t0001a0001c0007t0001others(13): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 others(255): Show |
267 | 364 | 0.7335 | 0 | c.150 others(4): Show |
p.Tyr others(4): Show |
SLC22A24 | ENSG00000197658.9 | transcript | ENST00000612278.4 | protein_coding | 9/10 | 1945/2101 | 1503/1659 | 501/552 | chr11 | TogoVar | |||
SLC22A31_chr16_89190761_89205537 | 89198106 | GGGGCCCC others(11): Show |
G | splice_donor_variant others(3): Show |
HIGH | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(28): Show |
a0004a0014 | a0004c0006a0004c0009a0014c0022 | a0004c0006t0001a0004c0009t0001a0014c0022t0001 | a0004c0006t0001g0006 a0004c0006t0001g0029 a0004c0009t0001g0008 others(1): Show |
31 | 426 | 0.0728 | -18 | c.920 others(28): Show |
p.Gln others(19): Show |
SLC22A31 | ENSG00000259803.8 | transcript | ENST00000682282.1 | protein_coding | 7/9 | 920/1341 | 307/446 | chr16 | TogoVar | ||||
SLC28A3_chr9_84270457_84345758 | 84292667 | C | T | splice_donor_variant others(1): Show |
HIGH | HG02071.hp2 HG02083.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 a0001c0001t0001g0166 |
2 | 364 | 0.0055 | 0 | c.102 others(6): Show |
SLC28A3 | ENSG00000197506.8 | transcript | ENST00000376238.5 | protein_coding | 10/17 | chr9 | 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 | |||
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 | ||||||
SPATA31C1_chr9_87912962_87928657 | 87923373 | C | T | stop_gained | HIGH | HG00423.hp1 HG00438.hp1 HG00597.hp1 others(39): Show |
a0005a0019a0029others(1): Show | a0005c0005a0005c0031a0019c0028others(2): Show | a0005c0005t0001a0005c0031t0001a0019c0028t0003others(2): Show | a0005c0005t0001g0002 a0005c0005t0001g0016 a0005c0031t0001g0002 others(3): Show |
42 | 386 | 0.1088 | 0 | c.346 others(4): Show |
p.Arg others(5): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 4/4 | 3495/3779 | 3466/3567 | 1156/1188 | 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 | ||
SPEGNB_chr2_219491131_219503287 | 219496868 | T | TA | frameshift_variant | HIGH | HG00280.hp2 HG00438.hp1 HG00673.hp2 others(26): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0003 a0002c0003t0001g0006 |
29 | 374 | 0.0775 | 1 | c.188 others(8): Show |
p.Val others(4): Show |
SPEGNB | ENSG00000286095.3 | transcript | ENST00000651166.2 | protein_coding | 3/5 | 276/902 | 189/717 | 63/238 | chr2 | TogoVar | |||
SPRR2D_chr1_153034732_153046120 | 153040239 | G | T | stop_gained | HIGH | HG02083.hp1 NA18986.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0015 | 2 | 452 | 0.0044 | 0 | c.108 others(3): Show |
p.Cys others(3): Show |
SPRR2D | ENSG00000163216.7 | transcript | ENST00000360379.4 | protein_coding | 2/2 | 170/677 | 108/219 | 36/72 | chr1 | 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 | ||||||
SYNE2_chr14_63848004_64231433 | 63993818 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00423.hp1 HG00438.hp2 HG00609.hp2 others(75): Show |
a0001a0002a0003others(38): Show | a0001c0004a0001c0005a0001c0009others(51): Show | a0001c0004t0002a0001c0005t0001a0001c0005t0003others(59): Show | a0001c0004t0002g0071 a0001c0005t0001g0032 a0001c0005t0003g0044 others(75): Show |
78 | 143 | 0.5455 | 1 | c.264 others(7): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 21/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TAAR2_chr6_132612150_132629275 | 132617703 | C | T | stop_gained | HIGH | HG00408.hp2 HG00544.hp2 HG00558.hp1 others(23): Show |
a0002 | a0002c0003a0002c0008 | a0002c0003t0001a0002c0008t0001 | a0002c0003t0001g0004 a0002c0003t0001g0029 a0002c0003t0001g0056 others(8): Show |
26 | 450 | 0.0578 | 0 | c.503 others(3): Show |
p.Trp others(4): Show |
TAAR2 | ENSG00000146378.6 | transcript | ENST00000367931.1 | protein_coding | 2/2 | 503/1056 | 503/1056 | 168/351 | 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 | |||
TAP2_chr6_32820415_32843739 | 32828908 | A | G | stop_lost | HIGH | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(156): Show |
a0001a0002a0006others(9): Show | a0001c0001a0002c0002a0002c0006others(19): Show | a0001c0001t0024a0002c0002t0001a0002c0002t0003others(28): Show | a0001c0001t0024g0046 a0002c0002t0001g0001 a0002c0002t0001g0037 others(70): Show |
159 | 484 | 0.3285 | 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 | |||
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 | ||||||
TCF19_chr6_31153589_31169215 | 31161820 | T | TC | frameshift_variant | HIGH | HG00280.hp2 HG00673.hp2 HG02027.hp2 others(11): Show |
a0004a0011 | a0004c0006a0004c0007a0004c0011others(1): Show | a0004c0006t0002a0004c0006t0008a0004c0007t0001others(6): Show | a0004c0006t0002g0002 a0004c0006t0002g0005 a0004c0006t0008g0005 others(8): Show |
14 | 450 | 0.0311 | 1 | c.615 others(4): Show |
p.Ala others(5): Show |
TCF19 | ENSG00000137310.13 | transcript | ENST00000376257.8 | protein_coding | 3/4 | 1323/3243 | 616/1038 | 206/345 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
TCHH_chr1_152101317_152120444 | 152111959 | TCAGCTGC others(60): Show |
T | frameshift_variant | HIGH | HG00438.hp1 HG02056.hp2 HG02080.hp1 others(1): Show |
a0017 | a0017c0016 | a0017c0016t0004 | a0017c0016t0004g0017 | 4 | 397 | 0.0101 | -67 | c.119 others(76): Show |
p.Glu others(5): Show |
TCHH | ENSG00000159450.13 | transcript | ENST00000614923.2 | protein_coding | 3/3 | 1342/6985 | 1191/5832 | 397/1943 | chr1 | TogoVar | |||
TCHH_chr1_152101317_152120444 | 152112032 | CAG | C | frameshift_variant | HIGH | HG00438.hp1 HG00642.hp2 HG01167.hp2 others(16): Show |
a0007a0017 | a0007c0005a0017c0016 | a0007c0005t0001a0017c0016t0004 | a0007c0005t0001g0003 a0017c0016t0004g0017 |
19 | 400 | 0.0475 | -2 | c.118 others(11): Show |
p.Leu others(5): Show |
TCHH | ENSG00000159450.13 | transcript | ENST00000614923.2 | protein_coding | 3/3 | 1269/6985 | 1183/5832 | 395/1943 | chr1 | TogoVar | |||
TEKT3_chr17_15298812_15346597 | 15340026 | A | G | splice_donor_variant others(1): Show |
HIGH | HG02083.hp1 HG02083.hp2 HG02523.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0002c0006t0001 | a0001c0001t0001g0025 a0001c0001t0001g0053 a0001c0001t0001g0054 others(2): Show |
6 | 396 | 0.0152 | 0 | c.-30 others(5): Show |
TEKT3 | ENSG00000125409.13 | transcript | ENST00000395930.6 | protein_coding | 2/8 | chr17 | 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 | |||||||
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 | |||
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 | |||
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 | |||||||
TMPRSS3_chr21_42366890_42401052 | 42383199 | C | CTA | splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp1 HG00408.hp2 HG00621.hp2 others(99): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0003a0002c0007others(6): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0002others(16): Show | a0001c0001t0001g0251 a0002c0003t0001g0007 a0002c0003t0001g0011 others(80): Show |
102 | 470 | 0.2170 | 2 | c.617 others(13): Show |
TMPRSS3 | ENSG00000160183.17 | transcript | ENST00000644384.2 | protein_coding | 7/12 | chr21 | TogoVar | |||||||
TMPRSS4_chr11_118072078_118126890 | 118094815 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(127): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0108 a0001c0001t0002g0014 a0001c0001t0003g0026 others(116): Show |
130 | 404 | 0.3218 | 0 | c.4-1 others(3): Show |
TMPRSS4 | ENSG00000137648.19 | transcript | ENST00000437212.8 | protein_coding | 1/12 | chr11 | 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 | |||||||
TNK2_chr3_195858364_195913551 | 195868357 | C | CG | frameshift_variant | HIGH | HG00597.hp1 HG00621.hp1 HG00639.hp1 others(50): Show |
a0002a0010a0011others(3): Show | a0002c0004a0002c0008a0002c0010others(20): Show | a0002c0004t0001a0002c0004t0002a0002c0008t0001others(24): Show | a0002c0004t0001g0133 a0002c0004t0001g0251 a0002c0004t0001g0261 others(50): Show |
53 | 370 | 0.1432 | 1 | c.194 others(5): Show |
p.Pro others(5): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 13/16 | 2025/4070 | 1940/3168 | 647/1055 | chr3 | TogoVar | |||
TRIM51G_chr11_48970498_48988885 | 48975829 | C | T | stop_gained | HIGH | HG02083.hp1 NA18984.hp1 |
a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0118 a0006c0008t0001g0124 |
2 | 422 | 0.0047 | 0 | c.102 others(4): Show |
p.Trp others(4): Show |
TRIM51G | ENSG00000220948.6 | transcript | ENST00000534741.3 | protein_coding | 7/7 | 1179/1510 | 1028/1359 | 343/452 | chr11 | 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 | |||||||
TYW1B_chr7_72569513_72833200 | 72728896 | C | T | stop_gained | HIGH | HG00280.hp1 HG00323.hp1 HG00558.hp2 others(117): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0007a0001c0018others(11): Show | a0001c0001t0001a0001c0007t0001a0001c0018t0001others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(117): Show |
120 | 284 | 0.4225 | 0 | c.111 others(4): Show |
p.Trp others(4): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 9/14 | 1243/3117 | 1118/2007 | 373/668 | chr7 | 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 | |||
ULBP3_chr6_150056053_150074121 | 150069013 | G | C | stop_gained | HIGH | HG00099.hp1 HG01934.hp2 HG01943.hp2 others(10): Show |
a0003 | a0003c0003 | a0003c0003t0006a0003c0003t0043 | a0003c0003t0006g0011 a0003c0003t0006g0022 a0003c0003t0006g0100 others(1): Show |
13 | 456 | 0.0285 | 0 | c.54C others(2): Show |
p.Tyr others(3): Show |
ULBP3 | ENSG00000131019.11 | transcript | ENST00000367339.7 | protein_coding | 1/5 | 109/3111 | 54/735 | 18/244 | chr6 | TogoVar | |||
UNC93A_chr6_167286315_167321014 | 167298071 | G | C | splice_donor_variant others(1): Show |
HIGH | HG00423.hp1 HG00558.hp1 HG00597.hp1 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0005others(4): Show | a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0105 others(21): Show |
29 | 446 | 0.0650 | 0 | c.625 others(5): Show |
UNC93A | ENSG00000112494.10 | transcript | ENST00000230256.8 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
USP17L21_chr4_9257872_9269464 | 9263027 | T | A | stop_gained | HIGH | HG01346.hp2 HG02083.hp1 HG02523.hp1 others(3): Show |
a0005a0034 | a0005c0012a0005c0077a0005c0078others(1): Show | a0005c0012t0001a0005c0077t0001a0005c0078t0001others(1): Show | a0005c0012t0001g0000 a0005c0077t0001g0000 a0005c0078t0001g0000 others(1): Show |
6 | 174 | 0.0345 | 0 | c.156 others(3): Show |
p.Cys others(3): Show |
USP17L21 | ENSG00000249811.3 | transcript | ENST00000506414.1 | protein_coding | 1/1 | 156/1593 | 156/1593 | 52/530 | chr4 | TogoVar | |||
USP17L30_chr4_9358129_9369721 | 9364065 | G | T | stop_gained | HIGH | HG00673.hp1 HG01081.hp2 HG01243.hp1 others(27): Show |
a0004a0005a0009others(1): Show | a0004c0008a0004c0020a0004c0030others(6): Show | a0004c0008t0001a0004c0020t0001a0004c0030t0001others(6): Show | a0004c0008t0001g0000 a0004c0020t0001g0000 a0004c0030t0001g0000 others(6): Show |
30 | 330 | 0.0909 | 0 | c.937 others(3): Show |
p.Gly others(4): Show |
USP17L30 | ENSG00000228856.3 | transcript | ENST00000504104.1 | protein_coding | 1/1 | 937/1593 | 937/1593 | 313/530 | chr4 | 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 |