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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LMTK3_chr19_48480271_48516835 | 48498801 | C | CG | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(203): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0005a0001c0006others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(165): Show |
206 | 308 | 0.6688 | 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 | |||
LRRIQ1_chr12_85031351_85250105 | 85244867 | GA | G | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(50): Show |
a0002a0003a0004others(1): Show | a0002c0003a0003c0004a0004c0008others(2): Show | a0002c0003t0001a0003c0004t0001a0004c0008t0001others(2): Show | a0002c0003t0001g0161 a0002c0003t0001g0162 a0002c0003t0001g0163 others(50): Show |
53 | 225 | 0.2356 | -1 | c.510 others(5): Show |
p.Asn others(6): Show |
LRRIQ1 | ENSG00000133640.20 | transcript | ENST00000393217.7 | protein_coding | 27/27 | 5186/5414 | 5105/5169 | 1702/1722 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
LRRK1_chr15_100914357_101083257 | 101061162 | C | CACTT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(88): Show |
a0001a0002a0004others(6): Show | a0001c0002a0001c0004a0001c0008others(34): Show | a0001c0002t0001a0001c0002t0028a0001c0002t0030others(78): Show | a0001c0002t0001g0199 a0001c0002t0001g0242 a0001c0002t0001g0252 others(88): Show |
91 | 336 | 0.2708 | 4 | c.468 others(17): Show |
LRRK1 | ENSG00000154237.13 | transcript | ENST00000388948.8 | protein_coding | 29/33 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MAGEB16_chrX_35793342_35808772 | 35803010 | C | T | stop_gained | HIGH | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(184): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(16): Show |
187 | 286 | 0.6538 | 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 | |||
MBD3L3_chr19_7051207_7063676 | 7054595 | ATAAAATA others(7093): Show |
A | transcript_ablation | HIGH | HG00140.hp1 | a0002 | a0002c0000 | a0002c0000t0000 | a0002c0000t0000g0000 | 1 | 288 | 0.0035 | -7100 | c.-30 others(11): Show |
p.0? | MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 1/2 | chr19 | TogoVar | ||||||
MDP1_chr14_24208943_24221066 | 24214060 | CA | C | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(91): Show |
a0002a0004 | a0002c0002a0002c0004a0004c0005 | a0002c0002t0001a0002c0002t0002a0002c0004t0001others(1): Show | a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0009 others(11): Show |
94 | 402 | 0.2338 | -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 | 31412224 | TG | T | splice_donor_variant others(1): Show |
HIGH | HG00140.hp2 HG01169.hp2 HG02080.hp2 others(9): Show |
a0009a0012 | a0009c0010a0012c0012 | a0009c0010t0003a0012c0012t0003 | a0009c0010t0003g0013 a0012c0012t0003g0024 a0012c0012t0003g0111 |
12 | 438 | 0.0274 | -1 | c.892 others(6): Show |
MICA | ENSG00000204520.14 | transcript | ENST00000449934.7 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MICA_chr6_31398595_31420315 | 31412384 | G | GCTGCTGC others(4): Show |
frameshift_variant | HIGH | HG00140.hp2 HG00642.hp1 HG00741.hp1 others(83): Show |
a0002a0009a0012others(3): Show | a0002c0001a0009c0010a0012c0012others(3): Show | a0002c0001t0002a0002c0001t0003a0009c0010t0003others(4): Show | a0002c0001t0002g0029 a0002c0001t0003g0006 a0002c0001t0003g0009 others(21): Show |
86 | 325 | 0.2646 | 11 | c.952 others(18): Show |
p.Gly others(5): Show |
MICA | ENSG00000204520.14 | transcript | ENST00000449934.7 | protein_coding | 5/6 | 991/1370 | 953/999 | 318/332 | chr6 | TogoVar | |||
MOK_chr14_102223836_102310164 | 102263544 | A | G | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG01099.hp1 HG01257.hp1 others(13): Show |
a0002 | a0002c0006 | a0002c0006t0002a0002c0006t0004a0002c0006t0006 | a0002c0006t0002g0002 a0002c0006t0002g0056 a0002c0006t0002g0057 others(12): Show |
16 | 250 | 0.0640 | 0 | c.283 others(5): Show |
MOK | ENSG00000080823.23 | transcript | ENST00000361847.7 | protein_coding | 4/11 | chr14 | 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 | a0001c0002t0031g0136 a0001c0006t0003g0005 a0001c0006t0003g0006 others(143): Show |
148 | 365 | 0.4055 | 1 | c.451 others(7): Show |
MON2 | ENSG00000061987.16 | transcript | ENST00000393630.8 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MROH6_chr8_143561192_143577772 | 143567371 | G | GC | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(34): Show |
a0004a0006a0014others(4): Show | a0004c0004a0004c0030a0006c0007others(6): Show | a0004c0004t0003a0004c0004t0012a0004c0004t0026others(8): Show | a0004c0004t0003g0016 a0004c0004t0003g0017 a0004c0004t0003g0042 others(19): Show |
37 | 436 | 0.0849 | 1 | c.202 others(5): Show |
p.Cys others(5): Show |
MROH6 | ENSG00000204839.9 | transcript | ENST00000398882.8 | protein_coding | 14/14 | 2085/3265 | 2027/2160 | 676/719 | chr8 | TogoVar | |||
MRPS34_chr16_1766895_1778134 | 1772796 | C | CACCT | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(166): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0003a0004c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0004g0012 others(6): Show |
169 | 434 | 0.3894 | 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(177): Show |
a0002 | a0002c0002a0002c0004a0002c0005others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0004t0001others(3): Show | a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0021 others(55): Show |
180 | 430 | 0.4186 | 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 | |||
MUC4_chr3_195741771_195816929 | 195783352 | G | GA | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00738.hp2 others(3): Show |
a0014a0027a0028others(2): Show | a0014c0012a0027c0033a0028c0034others(2): Show | a0014c0012t0002a0027c0033t0002a0028c0034t0002others(2): Show | a0014c0012t0002g0062 a0014c0012t0002g0190 a0027c0033t0002g0189 others(3): Show |
6 | 246 | 0.0244 | 1 | c.822 others(5): Show |
p.Ser others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8339/16756 | 8227/16239 | 2743/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195783358 | TC | T | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00621.hp2 others(19): Show |
a0003a0014a0020others(6): Show | a0003c0004a0003c0006a0003c0144others(9): Show | a0003c0004t0003a0003c0006t0003a0003c0144t0003others(9): Show | a0003c0004t0003g0202 a0003c0004t0003g0203 a0003c0004t0003g0204 others(19): Show |
22 | 243 | 0.0905 | -1 | c.822 others(5): Show |
p.Glu others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8333/16756 | 8221/16239 | 2741/5412 | 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 |
a0002a0007 | a0002c0002a0007c0010 | a0002c0002t0004a0002c0002t0008a0007c0010t0004 | a0002c0002t0004g0005 a0002c0002t0004g0010 a0002c0002t0004g0013 others(14): Show |
72 | 434 | 0.1659 | 0 | c.-15 others(5): Show |
MUC7 | ENSG00000171195.11 | transcript | ENST00000304887.6 | protein_coding | 1/2 | chr4 | TogoVar | |||||||
NACA2_chr17_61585421_61596219 | 61590592 | G | A | stop_gained | HIGH | HG00140.hp2 HG00408.hp2 HG00642.hp2 others(50): Show |
a0002a0004 | a0002c0002a0004c0007 | a0002c0002t0001a0004c0007t0001 | a0002c0002t0001g0000 a0004c0007t0001g0000 |
53 | 398 | 0.1332 | 0 | c.589 others(3): Show |
p.Arg others(4): Show |
NACA2 | ENSG00000253506.3 | transcript | ENST00000521764.3 | protein_coding | 1/1 | 628/799 | 589/648 | 197/215 | chr17 | TogoVar | |||
NBPF10_chr1_146059711_146149804 | 146069646 | TGAATAAC others(3179): Show |
C | exon_loss_variant | HIGH | HG00140.hp2 HG04204.hp2 |
a0001a0031 | a0001c0005a0031c0123 | a0001c0005t0003a0031c0123t0003 | a0001c0005t0003g0172 a0031c0123t0003g0176 |
2 | 282 | 0.0071 | -3186 | c.102 others(11): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 85/90 | 10742/13030 | chr1 | TogoVar | ||||||
NBPF10_chr1_146059711_146149804 | 146073961 | CCAAGATC others(14186): Show |
A | exon_loss_variant | HIGH | HG00140.hp2 | a0031 | a0031c0123 | a0031c0123t0003 | a0031c0123t0003g0176 | 1 | 144 | 0.0069 | -14193 | c.788 others(18): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 80/90 | 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 |
a0002a0006a0007others(78): Show | a0002c0001a0006c0004a0006c0019others(83): Show | a0002c0001t0001a0002c0001t0021a0002c0001t0022others(86): Show | a0002c0001t0001g0003 a0002c0001t0001g0004 a0002c0001t0001g0024 others(145): Show |
158 | 282 | 0.5603 | 0 | c.185 others(6): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 13/89 | chr1 | TogoVar | |||||||
NBPF10_chr1_146059711_146149804 | 146136989 | CATAAGGC others(6289): Show |
C | exon_loss_variant | HIGH | HG00140.hp2 HG00558.hp2 HG00597.hp2 others(58): Show |
a0001a0004a0031others(2): Show | a0001c0005a0001c0008a0001c0016others(35): Show | a0001c0005t0003a0001c0008t0003a0001c0016t0003others(36): Show | a0001c0005t0003g0160 a0001c0005t0003g0165 a0001c0005t0003g0172 others(57): Show |
61 | 282 | 0.2163 | -6296 | c.176 others(15): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 6/90 | chr1 | TogoVar | |||||||
NBPF14_chr1_148526385_148601011 | 148541093 | C | CCTTTCTC others(18815): Show |
stop_gained others(1): Show |
HIGH | HG00140.hp1 | a0043 | a0043c0120 | a0043c0120t0001 | a0043c0120t0001g0158 | 1 | 219 | 0.0046 | 18822 | c.751 others(18831): Show |
p.Lys others(18837): Show |
NBPF14 | ENSG00000270629.7 | transcript | ENST00000619423.4 | protein_coding | 61/71 | 7705/10779 | 7513/8967 | 2505/2988 | chr1 | TogoVar | |||
NBPF8_chr1_120410035_120474676 | 120436638 | AAG | A | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(85): Show |
a0002a0006a0008others(4): Show | a0002c0001a0002c0031a0006c0007others(5): Show | a0002c0001t0002a0002c0001t0008a0002c0001t0015others(22): Show | a0002c0001t0002g0001 a0002c0001t0002g0014 a0002c0001t0002g0015 others(82): Show |
88 | 290 | 0.3034 | -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 |
a0002a0006a0008others(4): Show | a0002c0001a0002c0031a0006c0007others(5): Show | a0002c0001t0002a0002c0001t0008a0002c0001t0015others(22): Show | a0002c0001t0002g0001 a0002c0001t0002g0014 a0002c0001t0002g0015 others(82): Show |
88 | 290 | 0.3034 | 0 | c.494 others(5): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 6/22 | chr1 | TogoVar | |||||||
NBPF8_chr1_120410035_120474676 | 120466107 | C | G | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(56): Show |
a0002a0013 | a0002c0001a0002c0031a0013c0025 | a0002c0001t0002a0002c0001t0008a0002c0001t0015others(9): Show | a0002c0001t0002g0001 a0002c0001t0002g0014 a0002c0001t0002g0015 others(54): Show |
59 | 290 | 0.2034 | 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 | |||
NCAPH2_chr22_50503224_50529780 | 50522253 | C | T | splice_donor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp1 HG00408.hp2 others(83): Show |
a0001a0003 | a0001c0001a0001c0006a0001c0017others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0002g0005 a0001c0001t0002g0013 a0001c0001t0002g0023 others(58): Show |
86 | 382 | 0.2251 | 0 | c.123 others(6): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 14/19 | chr22 | TogoVar | |||||||
NCR3LG1_chr11_17346800_17382341 | 17372490 | CTT | C | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG01070.hp1 others(17): Show |
a0003 | a0003c0003 | a0003c0003t0005a0003c0003t0031a0003c0003t0032 | a0003c0003t0005g0005 a0003c0003t0005g0016 a0003c0003t0005g0093 others(10): Show |
20 | 378 | 0.0529 | -2 | c.134 others(11): Show |
p.Leu others(5): Show |
NCR3LG1 | ENSG00000188211.9 | transcript | ENST00000338965.9 | protein_coding | 5/5 | 1515/6364 | 1345/1365 | 449/454 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
NLRP8_chr19_55942832_55993629 | 55987913 | G | C | stop_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(250): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0002a0001c0008others(39): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(80): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 others(222): Show |
253 | 348 | 0.7270 | 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 | |||
NPIPB11_chr16_29376310_29411711 | 29382144 | G | GAACCCAC others(6): Show |
frameshift_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(142): Show |
a0002a0003a0011others(15): Show | a0002c0002a0002c0041a0002c0065others(24): Show | a0002c0002t0001a0002c0002t0005a0002c0002t0009others(36): Show | a0002c0002t0001g0077 a0002c0002t0001g0132 a0002c0002t0001g0133 others(140): Show |
145 | 426 | 0.3404 | 13 | c.278 others(22): Show |
p.Pro others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5534/6369 | 2787/3486 | 929/1161 | chr16 | TogoVar | |||
NPIPB11_chr16_29376310_29411711 | 29382270 | GAACCCAC others(6): Show |
G | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(146): Show |
a0002a0003a0011others(19): Show | a0002c0002a0002c0041a0002c0065others(28): Show | a0002c0002t0001a0002c0002t0005a0002c0002t0009others(40): Show | a0002c0002t0001g0077 a0002c0002t0001g0132 a0002c0002t0001g0133 others(144): Show |
149 | 426 | 0.3498 | -13 | c.264 others(22): Show |
p.Glu others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5408/6369 | 2649/3486 | 883/1161 | chr16 | TogoVar | |||
NPIPB12_chr16_29478534_29511408 | 29484628 | CGGCAGGT others(478): Show |
C | frameshift_variant | HIGH | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 20 | 0.0500 | -485 | c.136 others(9): Show |
p.Phe others(5): Show |
NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2510/3605 | 1363/2787 | 455/928 | chr16 | TogoVar | |||
NPIPB13_chr16_30217897_30253479 | 30224067 | C | CCCCCGCA others(6): Show |
frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(81): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0021a0001c0033others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0038 a0001c0001t0002g0118 a0001c0001t0002g0119 others(81): Show |
84 | 144 | 0.5833 | 13 | c.237 others(22): Show |
p.Pro others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 5121/6292 | 2378/3417 | 793/1138 | chr16 | TogoVar | |||
NPIPB13_chr16_30217897_30253479 | 30224193 | CCCCCGCA others(6): Show |
C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(120): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0002a0001c0017others(42): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(64): Show | a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0040 others(120): Show |
123 | 144 | 0.8542 | -13 | c.224 others(22): Show |
p.Glu others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 4995/6292 | 2240/3417 | 747/1138 | chr16 | TogoVar | |||
NPIPB2_chr16_11922373_11947045 | 11933617 | CAT | C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(393): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0003a0001c0004others(24): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(24): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(325): Show |
396 | 412 | 0.9612 | -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 | |||
NPIPB4_chr16_21829582_21862756 | 21835504 | C | CCCCCGCA others(6): Show |
frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00738.hp2 others(8): Show |
a0007a0021a0025others(2): Show | a0007c0008a0021c0021a0025c0067others(2): Show | a0007c0008t0001a0021c0021t0001a0025c0067t0001others(2): Show | a0007c0008t0001g0001 a0007c0008t0001g0081 a0007c0008t0001g0085 others(7): Show |
11 | 204 | 0.0539 | 13 | c.287 others(22): Show |
p.Pro others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 3097/4020 | 2882/3669 | 961/1222 | chr16 | TogoVar | |||
NPIPB4_chr16_21829582_21862756 | 21835756 | C | CCCCCGCA others(6): Show |
frameshift_variant | HIGH | HG00140.hp1 HG02015.hp1 HG03688.hp1 others(2): Show |
a0016a0024a0037others(2): Show | a0016c0060a0024c0041a0037c0043others(2): Show | a0016c0060t0001a0024c0041t0001a0037c0043t0001others(2): Show | a0016c0060t0001g0103 a0024c0041t0001g0167 a0037c0043t0001g0174 others(2): Show |
5 | 204 | 0.0245 | 13 | c.261 others(22): Show |
p.Pro others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2845/4020 | 2630/3669 | 877/1222 | chr16 | TogoVar | |||
NPIPB4_chr16_21829582_21862756 | 21835882 | CCCCCGCA others(6): Show |
C | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(38): Show |
a0004a0007a0014others(14): Show | a0004c0006a0004c0015a0004c0064others(18): Show | a0004c0006t0001a0004c0015t0001a0004c0064t0001others(18): Show | a0004c0006t0001g0002 a0004c0006t0001g0044 a0004c0006t0001g0094 others(36): Show |
41 | 204 | 0.2010 | -13 | c.249 others(22): Show |
p.Glu others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2719/4020 | 2492/3669 | 831/1222 | chr16 | TogoVar | |||
NPIPB4_chr16_21829582_21862756 | 21835895 | T | TCGGCAGG others(106): Show |
frameshift_variant | HIGH | HG00140.hp1 | a0024 | a0024c0041 | a0024c0041t0001 | a0024c0041t0001g0167 | 1 | 203 | 0.0049 | 113 | c.249 others(122): Show |
p.Glu others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2706/4020 | 2491/3669 | 831/1222 | chr16 | TogoVar | |||
NPIPB4_chr16_21829582_21862756 | 21836142 | AGCGGCCC others(12): Show |
A | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00738.hp2 others(10): Show |
a0007a0014a0025others(3): Show | a0007c0008a0014c0022a0014c0056others(4): Show | a0007c0008t0001a0014c0022t0001a0014c0056t0001others(4): Show | a0007c0008t0001g0001 a0007c0008t0001g0081 a0007c0008t0001g0085 others(9): Show |
13 | 204 | 0.0637 | -19 | c.222 others(28): Show |
p.Val others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2459/4020 | 2226/3669 | 742/1222 | chr16 | TogoVar | |||
NPIPB4_chr16_21829582_21862756 | 21836303 | ATTATCAT others(226): Show |
A | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00738.hp2 others(8): Show |
a0007a0014a0025others(1): Show | a0007c0008a0014c0022a0014c0056others(2): Show | a0007c0008t0001a0014c0022t0001a0014c0056t0001others(2): Show | a0007c0008t0001g0001 a0007c0008t0001g0081 a0007c0008t0001g0085 others(7): Show |
11 | 202 | 0.0545 | -233 | c.185 others(9): Show |
p.Phe others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2298/4020 | 1851/3669 | 617/1222 | chr16 | TogoVar | |||
NPPA_chr1_11840709_11852783 | 11846011 | A | G | stop_lost | HIGH | HG00140.hp2 HG00642.hp2 HG01074.hp1 others(62): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007 others(7): Show |
65 | 364 | 0.1786 | 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 | |||
OAS1_chr12_112901962_112924903 | 112919388 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(303): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0001c0010others(5): Show | a0001c0001t0001a0001c0004t0001a0001c0010t0001others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(80): Show |
306 | 434 | 0.7051 | 0 | c.103 others(6): Show |
OAS1 | ENSG00000089127.15 | transcript | ENST00000202917.10 | protein_coding | 5/5 | chr12 | TogoVar | |||||||
ODF3L2_chr19_458361_479983 | 464140 | C | CG | frameshift_variant | HIGH | HG00140.hp2 HG00597.hp2 HG00673.hp1 others(24): Show |
a0003a0004 | a0003c0004a0004c0006a0004c0009 | a0003c0004t0001a0003c0004t0002a0004c0006t0001others(3): Show | a0003c0004t0001g0014 a0003c0004t0001g0019 a0003c0004t0001g0068 others(18): Show |
27 | 317 | 0.0852 | 1 | c.573 others(4): Show |
p.Ala others(5): Show |
ODF3L2 | ENSG00000181781.10 | transcript | ENST00000315489.5 | protein_coding | 4/4 | 809/1589 | 573/870 | 191/289 | chr19 | TogoVar | |||
OR10A3_chr11_7932171_7946708 | 7939699 | C | A | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG01074.hp2 HG02683.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0019 | a0001c0001t0005g0040 a0001c0001t0019g0075 |
3 | 446 | 0.0067 | 0 | c.-17 others(6): Show |
OR10A3 | ENSG00000170683.7 | transcript | ENST00000642047.1 | protein_coding | 1/1 | chr11 | TogoVar | |||||||
OR10AD1_chr12_48197339_48208292 | 48203092 | C | CA | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00639.hp1 others(74): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 77 | 412 | 0.1869 | 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 | |||
OR10D3_chr11_124178345_124193780 | 124186025 | T | G | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(234): Show |
a0002a0003a0004others(1): Show | a0002c0002a0002c0011a0003c0003others(4): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0008others(32): Show | a0002c0002t0001g0001 a0002c0002t0001g0009 a0002c0002t0001g0025 others(45): Show |
237 | 434 | 0.5461 | 0 | c.756 others(3): Show |
p.Tyr others(4): Show |
OR10D3 | ENSG00000197309.5 | transcript | ENST00000641351.3 | protein_coding | 2/2 | 806/3561 | 756/939 | 252/312 | chr11 | TogoVar | |||
OR10X1_chr1_158573919_158584899 | 158579702 | C | T | stop_gained | HIGH | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(209): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(1): Show | a0001c0001t0001g0000 a0001c0004t0001g0000 a0001c0006t0001g0000 others(1): Show |
212 | 428 | 0.4953 | 0 | c.198 others(3): Show |
p.Trp others(3): Show |
OR10X1 | ENSG00000279111.2 | transcript | ENST00000623167.1 | protein_coding | 1/1 | 198/981 | 198/981 | 66/326 | chr1 | TogoVar | |||
OR11G2_chr14_20185896_20206075 | 20198016 | C | CA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(271): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0015a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(59): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(101): Show |
274 | 478 | 0.5732 | 1 | c.585 others(4): Show |
p.Gly others(5): Show |
OR11G2 | ENSG00000196832.5 | transcript | ENST00000641879.2 | protein_coding | 2/2 | 1361/4413 | 586/936 | 196/311 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||
OR13C2_chr9_104599671_104610627 | 104605111 | TGTTA | T | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(171): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 174 | 410 | 0.4244 | -4 | c.513 others(11): Show |
p.Asn others(5): Show |
OR13C2 | ENSG00000276119.1 | transcript | ENST00000542196.2 | protein_coding | 1/1 | 516/957 | 513/957 | 171/318 | chr9 | TogoVar | |||
OR13C2_chr9_104599671_104610627 | 104605383 | AGC | A | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(204): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 207 | 410 | 0.5049 | -2 | c.243 others(9): Show |
p.Leu others(4): Show |
OR13C2 | ENSG00000276119.1 | transcript | ENST00000542196.2 | protein_coding | 1/1 | 244/957 | 243/957 | 81/318 | chr9 | TogoVar |