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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | ||
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 | |
LOC112267897_chr13_63741741_63753176 | 63747151 | C | A | stop_gained | HIGH | NA18982.hp2 | a0016 | a0016c0012 | a0016c0012t0001 | a0016c0012t0001g0000 | 1 | 426 | 0.0024 | 0 | c.351 others(3): Show |
p.Tyr others(4): Show |
LOC112267897 | ENSG00000237378.3 | transcript | ENST00000611641.1 | protein_coding | 1/1 | 411/1436 | 351/390 | 117/129 | chr13 | 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 | ||
MAGED4_chrX_52179888_52197268 | 52185953 | GA | G | frameshift_variant | HIGH | NA18982.hp1 | a0006 | a0006c0018 | a0006c0018t0002 | a0006c0018t0002g0016 | 1 | 220 | 0.0046 | -1 | c.34d others(3): Show |
p.Ser others(4): Show |
MAGED4 | ENSG00000154545.17 | transcript | ENST00000471932.6 | protein_coding | 2/13 | 143/2537 | 34/2226 | 12/741 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGED4_chrX_52179888_52197268 | 52185997 | C | CT | frameshift_variant | HIGH | NA18982.hp1 | a0006 | a0006c0018 | a0006c0018t0002 | a0006c0018t0002g0016 | 1 | 220 | 0.0046 | 1 | c.75_ others(6): Show |
p.Gly others(4): Show |
MAGED4 | ENSG00000154545.17 | transcript | ENST00000471932.6 | protein_coding | 2/13 | 185/2537 | 76/2226 | 26/741 | chrX | TogoVar | ||
MAGED4_chrX_52179888_52197268 | 52186798 | C | CCCTAGTA others(1): Show |
frameshift_variant | HIGH | NA18982.hp1 | a0006 | a0006c0018 | a0006c0018t0002 | a0006c0018t0002g0016 | 1 | 220 | 0.0046 | 8 | c.614 others(15): Show |
p.Ala others(5): Show |
MAGED4 | ENSG00000154545.17 | transcript | ENST00000471932.6 | protein_coding | 3/13 | 731/2537 | 622/2226 | 208/741 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGED4_chrX_52179888_52197268 | 52191444 | AC | A | frameshift_variant | HIGH | NA18982.hp1 NA19076.hp1 |
a0006a0008 | a0006c0018a0008c0013 | a0006c0018t0002a0008c0013t0001 | a0006c0018t0002g0016a0008c0013t0001g0051 | 2 | 220 | 0.0091 | -1 | c.180 others(5): Show |
p.Arg others(5): Show |
MAGED4 | ENSG00000154545.17 | transcript | ENST00000471932.6 | protein_coding | 12/13 | 1913/2537 | 1804/2226 | 602/741 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGED4_chrX_52179888_52197268 | 52191742 | C | CG | frameshift_variant | HIGH | NA18982.hp1 | a0006 | a0006c0018 | a0006c0018t0002 | a0006c0018t0002g0016 | 1 | 220 | 0.0046 | 1 | c.209 others(5): Show |
p.Val others(5): Show |
MAGED4 | ENSG00000154545.17 | transcript | ENST00000471932.6 | protein_coding | 12/13 | 2208/2537 | 2099/2226 | 700/741 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEE2_chrX_75777987_75790254 | 75784694 | C | A | stop_gained | HIGH | HG00280.hp1 HG00609.hp1 HG00621.hp1 others(120): Show |
a0002a0003a0007 | a0002c0002a0002c0003a0002c0010others(3): Show | a0002c0002t0001a0002c0003t0001a0002c0010t0001others(3): Show | a0002c0002t0001g0000a0002c0003t0001g0000a0002c0010t0001g0000others(3): Show | 123 | 277 | 0.4440 | 0 | c.358 others(3): Show |
p.Glu others(4): Show |
MAGEE2 | ENSG00000186675.7 | transcript | ENST00000373359.4 | protein_coding | 1/1 | 561/2268 | 358/1572 | 120/523 | chrX | TogoVar | ||
MROH6_chr8_143561192_143577772 | 143567889 | C | G | splice_acceptor_variant others(1): Show |
HIGH | NA18982.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0159 | 1 | 437 | 0.0023 | 0 | c.176 others(6): Show |
MROH6 | ENSG00000204839.9 | transcript | ENST00000398882.8 | protein_coding | 11/13 | chr8 | TogoVar | ||||||
MRPL36_chr5_1793385_1804837 | 1799789 | T | TACCCGGC others(11): Show |
splice_donor_variant others(1): Show |
HIGH | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(82): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0031others(2): Show | 85 | 432 | 0.1968 | 18 | c.-28 others(27): Show |
MRPL36 | ENSG00000171421.13 | transcript | ENST00000505059.7 | protein_coding | 1/1 | chr5 | 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 | ||
MSRA_chr8_10049292_10433891 | 10054519 | G | T | start_lost | HIGH | NA18945.hp2 NA18982.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0153a0002c0004t0001g0224 | 2 | 286 | 0.0070 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
MSRA | ENSG00000175806.15 | transcript | ENST00000317173.9 | protein_coding | 1/6 | 228/1512 | 3/708 | 1/235 | chr8 | TogoVar | ||
MT1G_chr16_56661730_56673065 | 56667382 | T | A | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(125): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0002g0002others(4): Show | 128 | 470 | 0.2723 | 0 | c.29- others(4): Show |
MT1G | ENSG00000125144.14 | transcript | ENST00000379811.4 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
MTA1_chr14_105414827_105475729 | 105466438 | G | GC | frameshift_variant | HIGH | HG00544.hp1 HG00597.hp1 HG00639.hp1 others(21): Show |
a0004a0005 | a0004c0003a0005c0005 | a0004c0003t0001a0005c0005t0001 | a0004c0003t0001g0033a0004c0003t0001g0035a0004c0003t0001g0072others(21): Show | 24 | 304 | 0.0790 | 1 | c.164 others(5): Show |
p.Lys others(5): Show |
MTA1 | ENSG00000182979.18 | transcript | ENST00000331320.12 | protein_coding | 17/21 | 1854/2871 | 1645/2148 | 549/715 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |
MUC4_chr3_195741771_195816929 | 195791215 | G | T | stop_gained | HIGH | NA18982.hp2 | a0095 | a0095c0025 | a0095c0025t0001 | a0095c0025t0001g0137 | 1 | 249 | 0.0040 | 0 | c.365 others(3): Show |
p.Ser others(4): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 477/16756 | 365/16239 | 122/5412 | 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 | ||||||
MYCT1_chr6_152692897_152729569 | 152697964 | GAGAT | G | frameshift_variant | HIGH | HG00558.hp2 HG00609.hp1 HG00673.hp1 others(48): Show |
a0002 | a0002c0002a0002c0008 | a0002c0002t0003a0002c0002t0004a0002c0002t0009others(6): Show | a0002c0002t0003g0054a0002c0002t0004g0005a0002c0002t0004g0012others(22): Show | 51 | 444 | 0.1149 | -4 | c.66_ others(9): Show |
p.Asp others(4): Show |
MYCT1 | ENSG00000120279.7 | transcript | ENST00000367245.6 | protein_coding | 1/2 | 72/3030 | 66/708 | 22/235 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
MYO15B_chr17_75582800_75631849 | 75590244 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00609.hp1 HG01257.hp2 HG01258.hp1 others(11): Show |
a0010a0011a0012others(4): Show | a0010c0016a0011c0029a0011c0075others(6): Show | a0010c0016t0001a0011c0029t0001a0011c0029t0008others(7): Show | a0010c0016t0001g0040a0011c0029t0001g0031a0011c0029t0008g0032others(10): Show | 14 | 384 | 0.0365 | 0 | c.218 others(6): Show |
MYO15B | ENSG00000266714.11 | transcript | ENST00000645453.3 | protein_coding | 1/63 | chr17 | 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 | ||
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 | ||
NBPF19_chr1_149470045_149561361 | 149521269 | CGGTTTCT others(4744): Show |
C | exon_loss_variant | HIGH | HG01168.hp1 HG01496.hp2 NA18982.hp1 others(2): Show |
a0026a0113a0201others(1): Show | a0026c0030a0113c0134a0201c0063others(1): Show | a0026c0030t0001a0113c0134t0001a0201c0063t0002others(1): Show | a0026c0030t0001g0030a0026c0030t0001g0035a0113c0134t0001g0065others(2): Show | 5 | 276 | 0.0181 | -4751 | c.633 others(17): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 53/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NBPF19_chr1_149470045_149561361 | 149544596 | ACGTACCA others(4730): Show |
A | exon_loss_variant | HIGH | HG00609.hp2 HG00738.hp2 HG01069.hp1 others(35): Show |
a0005a0010a0021others(26): Show | a0005c0004a0010c0007a0021c0022others(26): Show | a0005c0004t0001a0005c0004t0025a0010c0007t0001others(27): Show | a0005c0004t0001g0056a0005c0004t0001g0131a0005c0004t0001g0132others(34): Show | 38 | 276 | 0.1377 | -4737 | c.999 others(16): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 83/94 | INFO_REALIGN_3_PRIME | chr1 | 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 | ||
NLRP14_chr11_7015479_7076526 | 7039746 | A | T | stop_gained | HIGH | HG02132.hp1 HG02273.hp2 NA18965.hp1 others(3): Show |
a0006 | a0006c0008a0006c0034 | a0006c0008t0001a0006c0034t0001 | a0006c0008t0001g0014a0006c0008t0001g0105a0006c0034t0001g0104 | 6 | 346 | 0.0173 | 0 | c.322 others(3): Show |
p.Lys others(4): Show |
NLRP14 | ENSG00000158077.5 | transcript | ENST00000299481.5 | protein_coding | 3/12 | 635/3813 | 322/3282 | 108/1093 | chr11 | TogoVar | ||
NPIPA5_chr16_15358628_15383294 | 15363681 | CGCTGAGG others(64): Show |
C | frameshift_variant | HIGH | HG00099.hp1 HG00438.hp1 HG00438.hp2 others(80): Show |
a0000 | a0000c0002a0000c0024 | a0000c0002t0002a0000c0002t0003a0000c0024t0002 | a0000c0002t0002g0001a0000c0002t0002g0020a0000c0002t0002g0021others(39): Show | 83 | 430 | 0.1930 | -71 | c.960 others(79): Show |
p.Pro others(5): Show |
NPIPA5 | ENSG00000183793.14 | transcript | ENST00000360151.9 | protein_coding | 8/8 | 1030/1084 | 960/1053 | 320/350 | chr16 | TogoVar | ||
NPIPB11_chr16_29376310_29411711 | 29382144 | G | GAACCCAC others(6): Show |
frameshift_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(142): Show |
a0002a0003a0009others(29): Show | a0002c0003a0002c0022a0002c0054others(38): Show | a0002c0003t0001a0002c0003t0005a0002c0003t0009others(48): Show | a0002c0003t0001g0131a0002c0003t0001g0133a0002c0003t0001g0135others(140): Show | 145 | 428 | 0.3388 | 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 |
a0002a0003a0009others(33): Show | a0002c0003a0002c0022a0002c0054others(42): Show | a0002c0003t0001a0002c0003t0005a0002c0003t0009others(52): Show | a0002c0003t0001g0131a0002c0003t0001g0133a0002c0003t0001g0135others(144): Show | 149 | 428 | 0.3481 | -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 | ||
NPIPB11_chr16_29376310_29411711 | 29383167 | A | AC | frameshift_variant | HIGH | HG00408.hp2 HG00558.hp2 HG00673.hp1 others(71): Show |
a0002a0009a0026others(14): Show | a0002c0003a0002c0022a0002c0054others(20): Show | a0002c0003t0001a0002c0003t0005a0002c0003t0009others(25): Show | a0002c0003t0001g0131a0002c0003t0001g0133a0002c0003t0001g0135others(71): Show | 74 | 428 | 0.1729 | 1 | c.176 others(5): Show |
p.Phe others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 4511/6369 | 1764/3486 | 588/1161 | chr16 | TogoVar | ||
NPIPB11_chr16_29376310_29411711 | 29383290 | GC | G | frameshift_variant | HIGH | HG00408.hp2 HG00558.hp2 HG00673.hp1 others(69): Show |
a0002a0009a0026others(12): Show | a0002c0003a0002c0022a0002c0054others(18): Show | a0002c0003t0001a0002c0003t0005a0002c0003t0009others(23): Show | a0002c0003t0001g0131a0002c0003t0001g0133a0002c0003t0001g0135others(69): Show | 72 | 428 | 0.1682 | -1 | c.164 others(5): Show |
p.Pro others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 4388/6369 | 1641/3486 | 547/1161 | chr16 | TogoVar | ||
NPIPB12_chr16_29478534_29511408 | 29484475 | CCCCCGCA others(6): Show |
C | frameshift_variant | HIGH | HG01346.hp1 HG01981.hp1 HG02004.hp2 others(3): Show |
a0003a0004a0007 | a0003c0003a0003c0008a0004c0004others(1): Show | a0003c0003t0001a0003c0008t0001a0004c0004t0002others(1): Show | a0003c0003t0001g0001a0003c0003t0001g0002a0003c0008t0001g0013others(3): Show | 6 | 21 | 0.2857 | -13 | c.198 others(22): Show |
p.Glu others(5): Show |
NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2663/3605 | 1988/2787 | 663/928 | chr16 | TogoVar | ||
NPIPB12_chr16_29478534_29511408 | 29484880 | CGGCAGGT others(226): Show |
C | frameshift_variant | HIGH | NA18982.hp2 | a0007 | a0007c0013 | a0007c0013t0003 | a0007c0013t0003g0005 | 1 | 21 | 0.0476 | -233 | c.136 others(9): Show |
p.Phe others(5): Show |
NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2258/3605 | 1363/2787 | 455/928 | chr16 | 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 | ||
NPRL3_chr16_80386_143673 | 138304 | AGAGGAGG others(25): Show |
A | splice_acceptor_variant others(2): Show |
HIGH | HG00323.hp1 HG00423.hp2 HG00597.hp2 others(132): Show |
a0001a0002a0008 | a0001c0001a0001c0005a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(132): Show | 135 | 350 | 0.3857 | -32 | c.-67 others(41): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 2/14 | 38 | chr16 | 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 | ||
NUTM2A_chr10_87220448_87239978 | 87226077 | TC | T | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(378): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(65): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(74): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(158): Show | 381 | 403 | 0.9454 | -1 | c.250 others(4): Show |
p.Leu others(4): Show |
NUTM2A | ENSG00000184923.12 | transcript | ENST00000381707.6 | protein_coding | 1/7 | 633/3290 | 250/2637 | 84/878 | INFO_REALIGN_3_PRIME | chr10 | 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 | ||||||
OBSCN_chr1_228203044_228383876 | 228282202 | A | T | stop_gained | HIGH | HG00423.hp2 HG00438.hp2 HG00544.hp1 others(36): Show |
a0004a0008a0027others(14): Show | a0004c0006a0004c0013a0004c0123others(22): Show | a0004c0006t0001a0004c0006t0003a0004c0013t0001others(23): Show | a0004c0006t0001g0137a0004c0006t0001g0142a0004c0006t0001g0143others(36): Show | 39 | 320 | 0.1219 | 0 | c.975 others(4): Show |
p.Arg others(5): Show |
OBSCN | ENSG00000154358.23 | transcript | ENST00000680850.1 | protein_coding | 36/116 | 9914/27019 | 9754/26778 | 3252/8925 | chr1 | TogoVar | ||
OR10D3_chr11_124178345_124193780 | 124186025 | T | G | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(235): Show |
a0002a0003a0004others(1): Show | a0002c0002a0002c0011a0003c0003others(4): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0008others(32): Show | a0002c0002t0001g0001a0002c0002t0001g0009a0002c0002t0001g0023others(45): Show | 238 | 436 | 0.5459 | 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 | a0001c0001t0000a0001c0004t0000a0001c0006t0000others(1): Show | a0001c0001t0000g0000a0001c0004t0000g0000a0001c0006t0000g0000others(1): Show | 212 | 430 | 0.4930 | 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(272): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0015a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(59): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0008others(101): Show | 275 | 482 | 0.5705 | 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 | |
OR11H1_chr22_15523192_15534139 | 15528857 | T | G | stop_gained | HIGH | HG01167.hp2 HG02698.hp2 NA18982.hp2 others(1): Show |
a0005 | a0005c0006 | a0005c0006t0000 | a0005c0006t0000g0000 | 4 | 263 | 0.0152 | 0 | c.666 others(3): Show |
p.Tyr others(4): Show |
OR11H1 | ENSG00000130538.6 | transcript | ENST00000643195.1 | protein_coding | 1/1 | 666/948 | 666/948 | 222/315 | chr22 | TogoVar | ||
OR13C2_chr9_104599671_104610627 | 104605111 | TGTTA | T | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(171): Show |
a0002a0006a0007others(2): Show | a0002c0001a0002c0005a0002c0010others(4): Show | a0002c0001t0000a0002c0005t0000a0002c0010t0000others(4): Show | a0002c0001t0000g0000a0002c0005t0000g0000a0002c0010t0000g0000others(4): Show | 174 | 412 | 0.4223 | -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 |
a0002a0003a0006others(3): Show | a0002c0001a0002c0005a0002c0010others(8): Show | a0002c0001t0000a0002c0005t0000a0002c0010t0000others(8): Show | a0002c0001t0000g0000a0002c0005t0000g0000a0002c0010t0000g0000others(8): Show | 207 | 412 | 0.5024 | -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 | ||
OR13C5_chr9_104593457_104604413 | 104598487 | GT | G | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00423.hp2 others(209): Show |
a0001a0004a0005others(5): Show | a0001c0001a0004c0004a0005c0005others(5): Show | a0001c0001t0000a0004c0004t0000a0005c0005t0000others(5): Show | a0001c0001t0000g0000a0004c0004t0000g0000a0005c0005t0000g0000others(5): Show | 212 | 424 | 0.5000 | -1 | c.926 others(4): Show |
p.His others(5): Show |
OR13C5 | ENSG00000277556.1 | transcript | ENST00000374779.3 | protein_coding | 1/1 | 926/957 | 926/957 | 309/318 | chr9 | TogoVar | ||
OR1B1_chr9_122623125_122662627 | 122628962 | G | A | stop_gained | HIGH | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(158): Show |
a0002a0003a0006 | a0002c0002a0002c0016a0002c0017others(2): Show | a0002c0002t0002a0002c0002t0012a0002c0016t0002others(3): Show | a0002c0002t0002g0001a0002c0002t0002g0007a0002c0002t0002g0021others(81): Show | 161 | 420 | 0.3833 | 0 | c.571 others(3): Show |
p.Arg others(4): Show |
OR1B1 | ENSG00000280094.3 | transcript | ENST00000623530.2 | protein_coding | 2/2 | 1104/1941 | 571/954 | 191/317 | chr9 | TogoVar | ||
OR1B1_chr9_122623125_122662627 | 122629491 | C | CA | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(155): Show |
a0001a0008 | a0001c0001a0001c0005a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(8): Show | a0001c0001t0001g0010a0001c0001t0001g0014a0001c0001t0001g0023others(98): Show | 158 | 420 | 0.3762 | 1 | c.41d others(3): Show |
p.Leu others(4): Show |
OR1B1 | ENSG00000280094.3 | transcript | ENST00000623530.2 | protein_coding | 2/2 | 574/1941 | 41/954 | 14/317 | chr9 | TogoVar |