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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KRTAP1-1_chr17_41035541_41046450 | 41041247 | G | A | stop_gained | HIGH | HG00558.hp1 HG00558.hp2 HG00597.hp2 others(75): Show |
a0002 | a0002c0002a0002c0006a0002c0014 | a0002c0002t0001a0002c0006t0001a0002c0014t0001 | a0002c0002t0001g0000a0002c0006t0001g0000a0002c0014t0001g0000 | 78 | 403 | 0.1936 | 0 | c.151 others(3): Show |
p.Gln others(3): Show |
KRTAP1-1 | ENSG00000188581.9 | transcript | ENST00000306271.5 | protein_coding | 1/1 | 204/910 | 151/534 | 51/177 | chr17 | TogoVar | ||
KRTAP10-4_chr21_44568729_44580371 | 44574964 | A | C | stop_lost | HIGH | HG01081.hp2 HG01243.hp2 HG01256.hp1 others(32): Show |
a0000 | a0000c0011a0000c0012a0000c0014others(16): Show | a0000c0011t0005a0000c0011t0006a0000c0012t0005others(17): Show | a0000c0011t0005g0000a0000c0011t0006g0000a0000c0012t0005g0000others(17): Show | 35 | 476 | 0.0735 | 0 | c.120 others(4): Show |
p.Ter others(11): Show |
KRTAP10-4 | ENSG00000215454.7 | transcript | ENST00000400374.4 | protein_coding | 1/1 | 1236/1643 | 1206/1206 | 402/401 | chr21 | TogoVar | ||
KRTAP19-6_chr21_30536535_30546864 | 30541662 | AG | A | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(301): Show |
a0000 | a0000c0001a0000c0003a0000c0004others(2): Show | a0000c0001t0001a0000c0003t0001a0000c0004t0001others(2): Show | a0000c0001t0001g0000a0000c0003t0001g0000a0000c0004t0001g0000others(2): Show | 304 | 394 | 0.7716 | -1 | c.171 others(4): Show |
p.Tyr others(4): Show |
KRTAP19-6 | ENSG00000186925.6 | transcript | ENST00000334046.5 | protein_coding | 1/1 | 202/330 | 171/177 | 57/58 | chr21 | TogoVar | ||
KRTAP4-8_chr17_41091981_41103142 | 41098083 | A | AT | frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(233): Show |
a0001a0003a0007others(5): Show | a0001c0001a0003c0003a0003c0010others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(12): Show | a0001c0001t0001g0000a0001c0001t0005g0000a0001c0001t0012g0000others(12): Show | 236 | 416 | 0.5673 | 1 | c.1du others(2): Show |
p.Met others(3): Show |
KRTAP4-8 | ENSG00000204880.9 | transcript | ENST00000333822.5 | protein_coding | 1/1 | 59/1162 | 1/558 | 1/185 | chr17 | TogoVar | ||
KRTAP6-2_chr21_30593590_30603902 | 30598756 | T | TA | frameshift_variant | HIGH | HG02258.hp2 HG02486.hp1 HG02572.hp2 others(6): Show |
a0000 | a0000c0003 | a0000c0003t0001 | a0000c0003t0001g0000 | 9 | 442 | 0.0204 | 1 | c.118 others(4): Show |
p.Tyr others(4): Show |
KRTAP6-2 | ENSG00000186930.4 | transcript | ENST00000334897.4 | protein_coding | 1/1 | 146/313 | 118/189 | 40/62 | chr21 | TogoVar | ||
LAMA5_chr20_62304065_62372312 | 62316997 | C | CG | frameshift_variant | HIGH | HG00423.hp1 HG00673.hp2 HG00733.hp1 others(16): Show |
a0013a0014a0016others(10): Show | a0013c0126a0013c0135a0014c0019others(15): Show | a0013c0126t0001a0013c0135t0001a0014c0019t0001others(15): Show | a0013c0126t0001g0065a0013c0135t0001g0064a0014c0019t0001g0150others(16): Show | 19 | 186 | 0.1022 | 1 | c.753 others(5): Show |
p.Arg others(6): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 56/80 | 7604/11426 | 7537/11088 | 2513/3695 | chr20 | TogoVar | ||
LGALS9B_chr17_20444395_20472539 | 20467469 | A | ATC | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp2 HG00423.hp1 others(248): Show |
a0001a0002a0004others(11): Show | a0001c0001a0001c0025a0001c0026others(16): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(46): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(161): Show | 251 | 433 | 0.5797 | 2 | c.-1_ others(6): Show |
p.Met others(3): Show |
LGALS9B | ENSG00000170298.16 | transcript | ENST00000423676.8 | protein_coding | 1/11 | 70/1718 | 1/1071 | 1/356 | chr17 | TogoVar | ||
LILRB3_chr19_54211278_54228007 | 54220736 | A | C | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(309): Show |
a0001a0003a0004others(39): Show | a0001c0001a0003c0002a0004c0005others(43): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(65): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0079others(100): Show | 312 | 455 | 0.6857 | 0 | c.105 others(4): Show |
p.Tyr others(4): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 6/13 | 1081/2742 | 1050/1896 | 350/631 | chr19 | TogoVar | ||
LILRB3_chr19_54211278_54228007 | 54221872 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(193): Show |
a0001a0003a0010others(16): Show | a0001c0001a0003c0002a0010c0012others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(30): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0079others(56): Show | 196 | 455 | 0.4308 | 0 | c.614 others(3): Show |
p.Trp others(4): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 4/13 | 645/2742 | 614/1896 | 205/631 | chr19 | TogoVar | ||
LMTK3_chr19_48480271_48516835 | 48498801 | C | CG | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(204): Show |
a0000a0002a0003 | a0000c0001a0000c0005a0000c0006others(19): Show | a0000c0001t0001a0000c0001t0002a0000c0001t0004others(24): Show | a0000c0001t0001g0002a0000c0001t0001g0003a0000c0001t0001g0004others(180): Show | 207 | 314 | 0.6592 | 1 | c.226 others(5): Show |
p.Pro others(5): Show |
LMTK3 | ENSG00000142235.13 | transcript | ENST00000600059.6 | protein_coding | 11/15 | 2526/5144 | 2267/4383 | 756/1460 | chr19 | TogoVar | ||
LOC102725191_chr7_12499441_12546270 | 12523234 | G | GA | frameshift_variant | HIGH | HG00099.hp2 HG00408.hp1 HG00423.hp2 others(120): Show |
a0001 | a0001c0001a0001c0007a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(95): Show | 123 | 422 | 0.2915 | 1 | c.274 others(4): Show |
p.Ile others(4): Show |
LOC102725191 | ENSG00000226690.9 | transcript | ENST00000636804.2 | protein_coding | 2/6 | 378/1221 | 275/771 | 92/256 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
LTBP3_chr11_65533559_65563359 | 65554262 | A | AC | frameshift_variant | HIGH | HG00423.hp1 HG00423.hp2 HG00597.hp2 others(20): Show |
a0003a0013 | a0003c0004a0003c0010a0003c0017others(4): Show | a0003c0004t0001a0003c0010t0001a0003c0017t0001others(4): Show | a0003c0004t0001g0070a0003c0004t0001g0076a0003c0004t0001g0077others(20): Show | 23 | 316 | 0.0728 | 1 | c.449 others(4): Show |
p.Thr others(5): Show |
LTBP3 | ENSG00000168056.18 | transcript | ENST00000301873.11 | protein_coding | 2/28 | 849/4833 | 449/3912 | 150/1303 | chr11 | TogoVar | ||
LY96_chr8_73986392_74034079 | 73986612 | GCTGGACT others(5317): Show |
G | exon_loss_variant others(1): Show |
HIGH | HG02615.hp1 HG02896.hp2 HG02897.hp2 |
a0004 | a0004c0003 | a0004c0003t0003 | a0004c0003t0003g0004a0004c0003t0003g0005a0004c0003t0003g0006 | 3 | 314 | 0.0096 | -5324 | c.-48 others(13): Show |
LY96 | ENSG00000154589.7 | transcript | ENST00000284818.7 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
LYPD5_chr19_43790927_43807447 | 43802379 | A | C | start_lost | HIGH | HG02145.hp2 HG02615.hp2 |
a0004 | a0004c0007 | a0004c0007t0015 | a0004c0007t0015g0049a0004c0007t0015g0050 | 2 | 428 | 0.0047 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
LYPD5 | ENSG00000159871.15 | transcript | ENST00000377950.8 | protein_coding | 1/5 | 69/2487 | 2/756 | 1/251 | chr19 | TogoVar | ||
MAGEB16_chrX_35793342_35808772 | 35803010 | C | T | stop_gained | HIGH | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(185): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0007others(22): Show | 188 | 288 | 0.6528 | 0 | c.814 others(3): Show |
p.Arg others(4): Show |
MAGEB16 | ENSG00000189023.11 | transcript | ENST00000399988.6 | protein_coding | 2/2 | 957/1719 | 814/975 | 272/324 | chrX | TogoVar | ||
MAGEC3_chrX_141833316_141902832 | 141879368 | GCTACACC others(10): Show |
G | frameshift_variant | HIGH | HG00639.hp1 HG01175.hp2 HG01934.hp1 others(15): Show |
a0006 | a0006c0006a0006c0017a0006c0026others(2): Show | a0006c0006t0000a0006c0017t0000a0006c0026t0000others(2): Show | a0006c0006t0000g0022a0006c0006t0000g0069a0006c0006t0000g0216others(15): Show | 18 | 298 | 0.0604 | -17 | c.455 others(24): Show |
p.Tyr others(5): Show |
MAGEC3 | ENSG00000165509.13 | transcript | ENST00000298296.1 | protein_coding | 3/8 | 455/1932 | 455/1932 | 152/643 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MDP1_chr14_24208943_24221066 | 24214060 | CA | C | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(92): Show |
a0002a0004 | a0002c0002a0002c0004a0004c0005 | a0002c0002t0001a0002c0002t0002a0002c0004t0001others(1): Show | a0002c0002t0001g0004a0002c0002t0001g0006a0002c0002t0001g0009others(11): Show | 95 | 404 | 0.2352 | -1 | c.494 others(4): Show |
p.Leu others(5): Show |
MDP1 | ENSG00000213920.9 | transcript | ENST00000288087.12 | protein_coding | 6/6 | 605/723 | 494/531 | 165/176 | chr14 | TogoVar | ||
MICA_chr6_31398595_31420315 | 31412384 | G | GCT | frameshift_variant | HIGH | HG00423.hp1 HG00438.hp1 HG00621.hp1 others(110): Show |
a0000 | a0000c0002a0000c0004a0000c0014others(2): Show | a0000c0002t0001a0000c0002t0006a0000c0004t0001others(4): Show | a0000c0002t0001g0001a0000c0002t0001g0012a0000c0002t0001g0020others(34): Show | 113 | 439 | 0.2574 | 2 | c.952 others(9): Show |
p.Gly others(5): Show |
MICA | ENSG00000204520.14 | transcript | ENST00000449934.7 | protein_coding | 5/6 | 991/1370 | 953/999 | 318/332 | chr6 | TogoVar | ||
MON2_chr12_62461826_62605476 | 62578430 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(145): Show |
a0001a0002a0007others(3): Show | a0001c0002a0001c0006a0001c0009others(7): Show | a0001c0002t0031a0001c0006t0003a0001c0006t0007others(20): Show | a0001c0002t0031g0136a0001c0006t0003g0005a0001c0006t0003g0006others(143): Show | 148 | 368 | 0.4022 | 1 | c.451 others(7): Show |
MON2 | ENSG00000061987.16 | transcript | ENST00000393630.8 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MRPS34_chr16_1766895_1778134 | 1772796 | C | CACCT | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(166): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0003a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0004g0012others(6): Show | 169 | 436 | 0.3876 | 4 | c.320 others(13): Show |
MRPS34 | ENSG00000074071.15 | transcript | ENST00000397375.7 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
MS4A12_chr11_60487778_60512430 | 60497529 | C | T | stop_gained | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(178): Show |
a0002 | a0002c0002a0002c0004a0002c0005others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0004t0001others(3): Show | a0002c0002t0001g0004a0002c0002t0001g0008a0002c0002t0001g0021others(55): Show | 181 | 432 | 0.4190 | 0 | c.211 others(3): Show |
p.Gln others(3): Show |
MS4A12 | ENSG00000071203.9 | transcript | ENST00000016913.8 | protein_coding | 2/7 | 268/1167 | 211/804 | 71/267 | chr11 | TogoVar | ||
MS4A14_chr11_60391459_60422756 | 60397879 | ATT | A | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(249): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(87): Show | 252 | 428 | 0.5888 | -2 | c.167 others(9): Show |
p.Ile others(4): Show |
MS4A14 | ENSG00000166928.11 | transcript | ENST00000300187.11 | protein_coding | 2/5 | 287/2908 | 167/2040 | 56/679 | chr11 | TogoVar | ||
MTMR6_chr13_25241222_25292488 | 25258693 | CTAAAAT | C | splice_acceptor_variant others(2): Show |
HIGH | HG00280.hp1 HG00735.hp2 HG01192.hp1 others(21): Show |
a0003a0009 | a0003c0004a0009c0011 | a0003c0004t0004a0003c0004t0025a0009c0011t0004 | a0003c0004t0004g0014a0003c0004t0004g0243a0003c0004t0004g0305others(20): Show | 24 | 346 | 0.0694 | -6 | c.727 others(17): Show |
MTMR6 | ENSG00000139505.13 | transcript | ENST00000381801.6 | protein_coding | 6/13 | chr13 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195785783 | C | CCTGTGGA others(39): Show |
frameshift_variant | HIGH | HG02615.hp1 | a0079 | a0079c0192 | a0079c0192t0004 | a0079c0192t0004g0242 | 1 | 249 | 0.0040 | 46 | c.579 others(55): Show |
p.Asp others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 5908/16756 | 5796/16239 | 1932/5412 | chr3 | TogoVar | ||
MUC7_chr4_70467197_70487997 | 70474006 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp1 HG00438.hp1 others(69): Show |
a0002a0008 | a0002c0002a0008c0012 | a0002c0002t0004a0002c0002t0008a0008c0012t0004 | a0002c0002t0004g0005a0002c0002t0004g0010a0002c0002t0004g0013others(14): Show | 72 | 436 | 0.1651 | 0 | c.-15 others(5): Show |
MUC7 | ENSG00000171195.11 | transcript | ENST00000304887.6 | protein_coding | 1/2 | chr4 | TogoVar | ||||||
MYL1_chr2_210285150_210320174 | 210315041 | A | AT | frameshift_variant others(1): Show |
HIGH | HG01109.hp2 HG01891.hp2 HG02055.hp1 others(9): Show |
a0001a0002 | a0001c0003a0002c0005 | a0001c0003t0001a0002c0005t0004 | a0001c0003t0001g0030a0001c0003t0001g0031a0001c0003t0001g0061others(7): Show | 12 | 398 | 0.0302 | 1 | c.1du others(2): Show |
p.Met others(3): Show |
MYL1 | ENSG00000168530.16 | transcript | ENST00000352451.4 | protein_coding | 1/7 | 133/1049 | 1/585 | 1/194 | chr2 | TogoVar | ||
MYORG_chr9_34361666_34381898 | 34372875 | G | C | stop_gained | HIGH | HG00099.hp1 HG00323.hp2 HG00609.hp1 others(56): Show |
a0004a0006 | a0004c0004a0004c0005a0004c0015others(1): Show | a0004c0004t0003a0004c0004t0018a0004c0004t0037others(4): Show | a0004c0004t0003g0005a0004c0004t0003g0021a0004c0004t0003g0034others(10): Show | 59 | 452 | 0.1305 | 0 | c.69C others(2): Show |
p.Tyr others(3): Show |
MYORG | ENSG00000164976.9 | transcript | ENST00000297625.8 | protein_coding | 2/2 | 238/6447 | 69/2145 | 23/714 | chr9 | TogoVar | ||
NBPF10_chr1_146059711_146149804 | 146067249 | CTTCCCCT others(7): Show |
C | frameshift_variant | HIGH | HG02615.hp1 | a0019 | a0019c0063 | a0019c0063t0023 | a0019c0063t0023g0082 | 1 | 283 | 0.0035 | -14 | c.110 others(25): Show |
p.Arg others(6): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 89/90 | 11109/13030 | 11061/11388 | 3687/3795 | chr1 | TogoVar | ||
NBPF10_chr1_146059711_146149804 | 146124757 | C | CTAAGTCA others(9415): Show |
frameshift_variant others(1): Show |
HIGH | HG02615.hp1 | a0019 | a0019c0063 | a0019c0063t0023 | a0019c0063t0023g0082 | 1 | 283 | 0.0035 | 9422 | c.218 others(9431): Show |
p.Gly others(5): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 16/90 | 2216/13030 | 2181/11388 | 727/3795 | chr1 | TogoVar | ||
NBPF10_chr1_146059711_146149804 | 146126409 | G | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(155): Show |
a0002a0003a0005others(116): Show | a0002c0002a0003c0003a0005c0072others(126): Show | a0002c0002t0001a0003c0003t0001a0003c0003t0021others(129): Show | a0002c0002t0001g0001a0002c0002t0001g0064a0002c0002t0001g0065others(150): Show | 158 | 283 | 0.5583 | 0 | c.185 others(6): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 13/89 | chr1 | TogoVar | ||||||
NBPF11_chr1_148097151_148157281 | 148105470 | C | CATCT | frameshift_variant | HIGH | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(153): Show |
a0000a0002 | a0000c0002a0000c0003a0000c0004others(17): Show | a0000c0002t0002a0000c0002t0014a0000c0002t0018others(25): Show | a0000c0002t0002g0001a0000c0002t0002g0007a0000c0002t0002g0008others(145): Show | 156 | 388 | 0.4021 | 4 | c.236 others(13): Show |
p.Val others(5): Show |
NBPF11 | ENSG00000263956.8 | transcript | ENST00000682118.1 | protein_coding | 22/24 | 3441/5423 | 2361/2598 | 787/865 | chr1 | TogoVar | ||
NBPF11_chr1_148097151_148157281 | 148124954 | G | A | stop_gained | HIGH | HG01256.hp2 HG01261.hp1 HG01346.hp2 others(15): Show |
a0002 | a0002c0005a0002c0015a0002c0021 | a0002c0005t0001a0002c0015t0011a0002c0021t0029others(1): Show | a0002c0005t0001g0018a0002c0005t0001g0077a0002c0005t0001g0078others(15): Show | 18 | 388 | 0.0464 | 0 | c.223 others(3): Show |
p.Arg others(3): Show |
NBPF11 | ENSG00000263956.8 | transcript | ENST00000682118.1 | protein_coding | 6/24 | 1303/5423 | 223/2598 | 75/865 | chr1 | TogoVar | ||
NBPF11_chr1_148097151_148157281 | 148143413 | A | C | splice_donor_variant others(1): Show |
HIGH | HG02615.hp1 HG02818.hp2 |
a0002 | a0002c0015 | a0002c0015t0011 | a0002c0015t0011g0020a0002c0015t0011g0021 | 2 | 388 | 0.0052 | 0 | c.-27 others(6): Show |
NBPF11 | ENSG00000263956.8 | transcript | ENST00000682118.1 | protein_coding | 2/23 | chr1 | TogoVar | ||||||
NBPF8_chr1_120410035_120474676 | 120436638 | AAG | A | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(85): Show |
a0001a0012 | a0001c0002a0001c0007a0001c0010others(13): Show | a0001c0002t0002a0001c0002t0008a0001c0002t0028others(30): Show | a0001c0002t0002g0001a0001c0002t0002g0012a0001c0002t0002g0013others(82): Show | 88 | 292 | 0.3014 | -2 | c.122 others(9): Show |
p.Arg others(4): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 4/23 | 1094/7256 | 122/2829 | 41/942 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
NBPF8_chr1_120410035_120474676 | 120440741 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(85): Show |
a0001a0012 | a0001c0002a0001c0007a0001c0010others(13): Show | a0001c0002t0002a0001c0002t0008a0001c0002t0028others(30): Show | a0001c0002t0002g0001a0001c0002t0002g0012a0001c0002t0002g0013others(82): Show | 88 | 292 | 0.3014 | 0 | c.494 others(5): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 6/22 | chr1 | TogoVar | ||||||
NBPF8_chr1_120410035_120474676 | 120441370 | CCAACCAG others(6345): Show |
C | frameshift_variant others(3): Show |
HIGH | HG00544.hp2 HG00642.hp2 HG01069.hp1 others(67): Show |
a0001a0003a0006others(3): Show | a0001c0007a0001c0019a0001c0021others(7): Show | a0001c0007t0007a0001c0007t0019a0001c0007t0057others(20): Show | a0001c0007t0007g0003a0001c0007t0007g0084a0001c0007t0007g0085others(64): Show | 70 | 292 | 0.2397 | -6352 | c.778 others(12): Show |
p.Val others(5): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 9/23 | 779/2829 | 260/942 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
NBPF8_chr1_120410035_120474676 | 120466107 | C | G | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(56): Show |
a0001a0012 | a0001c0002a0001c0011a0001c0019others(5): Show | a0001c0002t0002a0001c0002t0008a0001c0002t0028others(14): Show | a0001c0002t0002g0001a0001c0002t0002g0012a0001c0002t0002g0013others(54): Show | 59 | 292 | 0.2021 | 0 | c.271 others(4): Show |
p.Tyr others(4): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 23/23 | 3687/7256 | 2715/2829 | 905/942 | chr1 | TogoVar | ||
NCLN_chr19_3180930_3214575 | 3192658 | C | CG | splice_donor_variant others(1): Show |
HIGH | HG02615.hp2 NA19000.hp1 NA19058.hp1 others(1): Show |
a0003 | a0003c0012a0003c0014 | a0003c0012t0001a0003c0012t0010a0003c0014t0001others(1): Show | a0003c0012t0001g0263a0003c0012t0010g0199a0003c0014t0001g0019others(1): Show | 4 | 410 | 0.0098 | 1 | c.375 others(6): Show |
NCLN | ENSG00000125912.11 | transcript | ENST00000246117.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NEK3_chr13_52127647_52164597 | 52143914 | CT | C | frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00408.hp1 HG00438.hp2 others(211): Show |
a0001a0006a0010 | a0001c0001a0006c0012a0010c0010 | a0001c0001t0001a0001c0001t0006a0006c0012t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(99): Show | 214 | 398 | 0.5377 | -1 | c.877 others(4): Show |
p.Thr others(5): Show |
NEK3 | ENSG00000136098.18 | transcript | ENST00000610828.5 | protein_coding | 10/16 | 989/2128 | 877/1521 | 293/506 | chr13 | TogoVar | ||
NLGN3_chrX_71139841_71176201 | 71169884 | T | TC | frameshift_variant | HIGH | HG01433.hp1 HG02615.hp1 HG02738.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0005 | a0002c0002t0001g0008a0002c0002t0001g0084a0002c0002t0001g0085others(4): Show | 7 | 278 | 0.0252 | 1 | c.234 others(5): Show |
p.His others(5): Show |
NLGN3 | ENSG00000196338.15 | transcript | ENST00000358741.4 | protein_coding | 8/8 | 2666/3975 | 2342/2547 | 781/848 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
NLRP8_chr19_55942832_55993629 | 55987913 | G | C | stop_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(251): Show |
a0000 | a0000c0001a0000c0002a0000c0003others(39): Show | a0000c0001t0001a0000c0001t0004a0000c0001t0005others(114): Show | a0000c0001t0001g0008a0000c0001t0001g0037a0000c0001t0001g0038others(241): Show | 254 | 350 | 0.7257 | 0 | c.314 others(4): Show |
p.Ter others(12): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 10/10 | 3218/3934 | 3147/3147 | 1049/1048 | chr19 | TogoVar | ||
NPIPB2_chr16_11922373_11947045 | 11933617 | CAT | C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(394): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0003a0001c0004others(34): Show | a0001c0001t0000a0001c0003t0000a0001c0004t0000others(34): Show | a0001c0001t0000g0001a0001c0001t0000g0002a0001c0001t0000g0006others(328): Show | 397 | 414 | 0.9589 | -2 | c.386 others(9): Show |
p.His others(5): Show |
NPIPB2 | ENSG00000234719.9 | transcript | ENST00000399147.8 | protein_coding | 4/8 | 387/1194 | 386/1194 | 129/397 | chr16 | TogoVar | ||
NPIPB7_chr16_28451329_28477336 | 28456526 | C | CCTCTGCC others(3): Show |
frameshift_variant | HIGH | HG00609.hp2 HG01891.hp1 HG02071.hp2 others(26): Show |
a0005a0012a0018others(1): Show | a0005c0005a0005c0010a0012c0015others(2): Show | a0005c0005t0004a0005c0005t0023a0005c0005t0027others(5): Show | a0005c0005t0004g0013a0005c0005t0004g0014a0005c0005t0004g0114others(23): Show | 29 | 382 | 0.0759 | 10 | c.113 others(19): Show |
p.Ala others(5): Show |
NPIPB7 | ENSG00000233232.8 | transcript | ENST00000452313.6 | protein_coding | 7/7 | 3040/3238 | 1142/1245 | 381/414 | chr16 | TogoVar | ||
NPIPB8_chr16_28633065_28663744 | 28658517 | A | AAGAGGCA others(3): Show |
frameshift_variant | HIGH | HG02055.hp1 HG02280.hp2 HG02559.hp2 others(16): Show |
a0004a0005a0023others(1): Show | a0004c0004a0005c0008a0005c0015others(2): Show | a0004c0004t0001a0005c0008t0002a0005c0015t0001others(3): Show | a0004c0004t0001g0198a0004c0004t0001g0199a0004c0004t0001g0200others(16): Show | 19 | 351 | 0.0541 | 10 | c.118 others(19): Show |
p.Ala others(5): Show |
NPIPB8 | ENSG00000255524.8 | transcript | ENST00000683297.1 | protein_coding | 8/8 | 1321/1537 | 1197/1299 | 399/432 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
NPPA_chr1_11840709_11852783 | 11846011 | A | G | stop_lost | HIGH | HG00140.hp2 HG00642.hp2 HG01074.hp1 others(62): Show |
a0000 | a0000c0002 | a0000c0002t0002a0000c0002t0004 | a0000c0002t0002g0004a0000c0002t0002g0006a0000c0002t0002g0007others(7): Show | 65 | 366 | 0.1776 | 0 | c.454 others(3): Show |
p.Ter others(11): Show |
NPPA | ENSG00000175206.11 | transcript | ENST00000376480.7 | protein_coding | 3/3 | 553/855 | 454/456 | 152/151 | chr1 | TogoVar | ||
NUDCD2_chr5_163441526_163465102 | 163459861 | C | G | splice_donor_variant others(1): Show |
HIGH | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0047 | 1 | 426 | 0.0024 | 0 | c.189 others(5): Show |
NUDCD2 | ENSG00000170584.11 | transcript | ENST00000302764.9 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
NUDT11_chrX_51485011_51501592 | 51496443 | ATCCTCGA others(7): Show |
A | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(270): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(44): Show | 273 | 274 | 0.9964 | -14 | c.-13 others(19): Show |
p.Met others(3): Show |
NUDT11 | ENSG00000196368.5 | transcript | ENST00000375992.4 | protein_coding | 1/2 | 149/2381 | 1/495 | 1/164 | chrX | TogoVar | ||
OAS1_chr12_112901962_112924903 | 112919388 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(304): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0001c0010others(5): Show | a0001c0001t0001a0001c0004t0001a0001c0010t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(80): Show | 307 | 436 | 0.7041 | 0 | c.103 others(6): Show |
OAS1 | ENSG00000089127.15 | transcript | ENST00000202917.10 | protein_coding | 5/5 | chr12 | TogoVar | ||||||
OR10AD1_chr12_48197339_48208292 | 48203092 | C | CA | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00639.hp1 others(74): Show |
a0002 | a0002c0002 | a0002c0002t0000 | a0002c0002t0000g0000 | 77 | 414 | 0.1860 | 1 | c.200 others(4): Show |
p.Ser others(4): Show |
OR10AD1 | ENSG00000172640.4 | transcript | ENST00000310248.4 | protein_coding | 1/1 | 200/954 | 200/954 | 67/317 | chr12 | TogoVar | ||
OR10C1_chr6_29434306_29445977 | 29440178 | C | T | stop_gained | HIGH | HG02257.hp2 HG02572.hp2 HG02615.hp2 others(7): Show |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0000 | 10 | 451 | 0.0222 | 0 | c.163 others(3): Show |
p.Gln others(3): Show |
OR10C1 | ENSG00000206474.8 | transcript | ENST00000444197.3 | protein_coding | 1/1 | 873/1672 | 163/939 | 55/312 | chr6 | TogoVar |