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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KIF25_chr6_167992671_168050091 | 168029510 | C | CTGACATG others(69): Show |
frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(332): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0003a0001c0006others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(66): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(323): Show |
335 | 371 | 0.9030 | 76 | c.7_8 others(80): Show |
p.Lys others(4): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 6/13 | 1881/3048 | 83/1155 | 28/384 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
KLRC2_chr12_10425599_10441010 | 10429008 | GTGATGCC others(11995): Show |
G | transcript_ablation | HIGH | HG00280.hp2 HG00423.hp1 HG00544.hp1 others(60): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 63 | 219 | 0.2877 | -12002 | c.-50 others(11): Show |
p.0? | KLRC2 | ENSG00000205809.11 | transcript | ENST00000381902.7 | protein_coding | 3/6 | chr12 | TogoVar | ||||||
KRBA1_chr7_149709951_149739575 | 149723729 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(278): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0009a0001c0025others(23): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(29): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(132): Show |
281 | 411 | 0.6837 | 1 | c.875 others(6): Show |
KRBA1 | ENSG00000133619.18 | transcript | ENST00000496259.6 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KRT24_chr17_40692991_40708752 | 40701882 | CA | C | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(200): Show |
a0001a0009a0011 | a0001c0001a0001c0013a0001c0014others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0013t0001others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 others(44): Show |
203 | 422 | 0.4810 | -1 | c.666 others(4): Show |
p.Asn others(5): Show |
KRT24 | ENSG00000167916.5 | transcript | ENST00000264651.3 | protein_coding | 2/8 | 725/1883 | 666/1578 | 222/525 | chr17 | TogoVar | |||
KRT26_chr17_40761238_40777201 | 40772112 | A | T | start_lost | HIGH | HG04184.hp2 | a0010 | a0010c0008 | a0010c0008t0001 | a0010c0008t0001g0030 | 1 | 412 | 0.0024 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
KRT26 | ENSG00000186393.6 | transcript | ENST00000335552.5 | protein_coding | 1/8 | 90/1772 | 2/1407 | 1/468 | chr17 | TogoVar | |||
KRT27_chr17_40771808_40787550 | 40779628 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG03704.hp2 HG03710.hp2 HG03927.hp2 others(2): Show |
a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0024 a0005c0004t0001g0079 |
5 | 462 | 0.0108 | 0 | c.847 others(5): Show |
KRT27 | ENSG00000171446.7 | transcript | ENST00000301656.4 | protein_coding | 4/7 | chr17 | TogoVar | |||||||
KRT3_chr12_52784685_52801117 | 52790835 | T | TA | splice_donor_variant others(1): Show |
HIGH | HG00323.hp1 HG00642.hp1 HG00733.hp2 others(11): Show |
a0002a0003a0005 | a0002c0002a0003c0005a0005c0007 | a0002c0002t0001a0003c0005t0001a0005c0007t0001 | a0002c0002t0001g0006 a0002c0002t0001g0042 a0003c0005t0001g0068 others(1): Show |
14 | 452 | 0.0310 | 1 | c.157 others(7): Show |
KRT3 | ENSG00000186442.7 | transcript | ENST00000417996.2 | protein_coding | 8/8 | chr12 | TogoVar | |||||||
KRTAP2-2_chr17_41049498_41060230 | 41054887 | C | CGCAGGGG others(98): Show |
stop_gained others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(143): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0001a0001c0002t0010a0003c0004t0001others(1): Show | a0001c0002t0001g0000 a0001c0002t0010g0000 a0003c0004t0001g0000 others(1): Show |
146 | 211 | 0.6919 | 105 | c.324 others(112): Show |
p.Cys others(118): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 1/1 | 343/733 | 324/372 | 108/123 | chr17 | TogoVar | |||
KRTAP4-8_chr17_41091981_41103142 | 41097963 | C | CG | frameshift_variant | HIGH | HG00423.hp1 HG00438.hp2 HG01255.hp2 others(10): Show |
a0005a0007 | a0005c0005a0005c0012a0005c0015others(1): Show | a0005c0005t0002a0005c0012t0001a0005c0015t0003others(1): Show | a0005c0005t0002g0000 a0005c0012t0001g0000 a0005c0015t0003g0000 others(1): Show |
13 | 414 | 0.0314 | 1 | c.121 others(4): Show |
p.Arg others(4): Show |
KRTAP4-8 | ENSG00000204880.9 | transcript | ENST00000333822.5 | protein_coding | 1/1 | 179/1162 | 121/558 | 41/185 | chr17 | TogoVar | |||
KRTAP4-8_chr17_41091981_41103142 | 41098083 | A | AT | frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(232): Show |
a0001a0003a0005others(5): Show | a0001c0001a0003c0003a0003c0010others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(11): Show | a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0011g0000 others(11): Show |
235 | 414 | 0.5676 | 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 | |||
KRTAP9-1_chr17_41184887_41195639 | 41189887 | A | G | start_lost | HIGH | HG00280.hp1 HG00642.hp1 HG00735.hp1 others(40): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 43 | 458 | 0.0939 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
KRTAP9-1 | ENSG00000240542.6 | transcript | ENST00000398470.1 | protein_coding | 1/1 | 1/753 | 1/753 | 1/250 | chr17 | TogoVar | |||
LENG9_chr19_54456732_54468778 | 54462902 | C | A | stop_gained | HIGH | HG04184.hp1 | a0017 | a0017c0024 | a0017c0024t0002 | a0017c0024t0002g0000 | 1 | 420 | 0.0024 | 0 | c.625 others(3): Show |
p.Gly others(4): Show |
LENG9 | ENSG00000275183.2 | transcript | ENST00000611161.2 | protein_coding | 1/1 | 877/2047 | 625/1437 | 209/478 | chr19 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(160): Show |
251 | 432 | 0.5810 | 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 | |||
LILRA6_chr19_54231590_54247790 | 54240484 | G | A | stop_gained | HIGH | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(188): Show |
a0002a0003a0004others(33): Show | a0002c0002a0002c0027a0002c0028others(39): Show | a0002c0002t0003a0002c0002t0004a0002c0002t0007others(70): Show | a0002c0002t0003g0002 a0002c0002t0003g0043 a0002c0002t0003g0141 others(95): Show |
191 | 448 | 0.4263 | 0 | c.104 others(4): Show |
p.Gln others(4): Show |
LILRA6 | ENSG00000244482.11 | transcript | ENST00000396365.7 | protein_coding | 6/8 | 1087/3848 | 1048/1446 | 350/481 | chr19 | TogoVar | |||
LILRB3_chr19_54211278_54228007 | 54220736 | A | C | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(309): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0019 others(25): Show |
312 | 454 | 0.6872 | 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 |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0019 others(21): Show |
196 | 454 | 0.4317 | 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 | |||
LIPJ_chr10_88581762_88611976 | 88596265 | CTTATT | C | splice_acceptor_variant others(2): Show |
HIGH | HG00280.hp2 HG01070.hp2 HG01099.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0105 |
4 | 408 | 0.0098 | -5 | c.440 others(16): Show |
LIPJ | ENSG00000204022.9 | transcript | ENST00000371939.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
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 | |||
LMTK3_chr19_48480271_48516835 | 48498893 | C | CG | frameshift_variant | HIGH | HG00408.hp1 HG00423.hp1 HG00544.hp2 others(49): Show |
a0003a0004a0005 | a0003c0003a0003c0015a0003c0016others(9): Show | a0003c0003t0001a0003c0003t0002a0003c0015t0001others(11): Show | a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0001g0012 others(43): Show |
52 | 312 | 0.1667 | 1 | c.217 others(5): Show |
p.Ala others(5): Show |
LMTK3 | ENSG00000142235.13 | transcript | ENST00000600059.6 | protein_coding | 11/15 | 2434/5144 | 2175/4383 | 725/1460 | 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 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0012 others(93): Show |
123 | 420 | 0.2929 | 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 | ||
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 | |||
MAGEL2_chr15_23638549_23652867 | 23646183 | T | TG | frameshift_variant | HIGH | HG01192.hp1 HG02056.hp2 HG02135.hp1 others(10): Show |
a0003a0029 | a0003c0003a0003c0032a0029c0034 | a0003c0003t0001a0003c0003t0002a0003c0032t0001others(1): Show | a0003c0003t0001g0000 a0003c0003t0002g0000 a0003c0032t0001g0000 others(1): Show |
13 | 434 | 0.0300 | 1 | c.155 others(5): Show |
p.Pro others(5): Show |
MAGEL2 | ENSG00000254585.5 | transcript | ENST00000650528.1 | protein_coding | 1/1 | 1684/4319 | 1559/3750 | 520/1249 | chr15 | TogoVar | |||
METTL9_chr16_21594577_21662471 | 21612623 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00544.hp1 HG00609.hp2 HG00738.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0007a0001c0002t0002others(1): Show | a0001c0001t0001g0077 a0001c0001t0001g0126 a0001c0001t0001g0139 others(25): Show |
35 | 354 | 0.0989 | 1 | c.166 others(6): Show |
METTL9 | ENSG00000197006.15 | transcript | ENST00000358154.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MGAM_chr7_141990879_142111747 | 142065551 | AGAGCCTG others(29025): Show |
A | exon_loss_variant | HIGH | HG00423.hp1 HG00735.hp2 HG00738.hp2 others(32): Show |
a0002a0008 | a0002c0004a0002c0008a0002c0016others(3): Show | a0002c0004t0001a0002c0008t0001a0002c0016t0001others(3): Show | a0002c0004t0001g0053 a0002c0004t0001g0120 a0002c0004t0001g0123 others(32): Show |
35 | 314 | 0.1115 | -29032 | c.464 others(9): Show |
MGAM | ENSG00000257335.8 | transcript | ENST00000475668.6 | protein_coding | 40/71 | 4695/9172 | INFO_REALIGN_3_PRIME | chr7 | 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 | GCT | frameshift_variant | HIGH | HG00423.hp1 HG00438.hp1 HG00621.hp1 others(110): Show |
a0003a0004a0013others(1): Show | a0003c0003a0004c0005a0004c0013others(2): Show | a0003c0003t0001a0003c0003t0006a0004c0005t0001others(4): Show | a0003c0003t0001g0001 a0003c0003t0001g0012 a0003c0003t0001g0020 others(34): Show |
113 | 352 | 0.3210 | 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 | |||
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 | |||
MPPE1_chr18_11877622_11913317 | 11886922 | G | A | stop_gained | HIGH | HG04184.hp2 | a0012 | a0012c0016 | a0012c0016t0009 | a0012c0016t0009g0403 | 1 | 454 | 0.0022 | 0 | c.673 others(3): Show |
p.Arg others(4): Show |
MPPE1 | ENSG00000154889.17 | transcript | ENST00000588072.6 | protein_coding | 7/11 | 989/3330 | 673/1191 | 225/396 | chr18 | TogoVar | |||
MRGPRG_chr11_3212944_3223813 | 3217508 | CCCACCTA others(5341): Show |
C | transcript_ablation | HIGH | HG00735.hp2 HG00741.hp1 HG01109.hp1 others(6): Show |
a0002 | a0002c0000 | a0002c0000t0000 | a0002c0000t0000g0000 | 9 | 424 | 0.0212 | -5348 | c.-40 others(10): Show |
p.0? | MRGPRG | ENSG00000182170.3 | transcript | ENST00000332314.3 | protein_coding | 1/1 | chr11 | TogoVar | ||||||
MROH2B_chr5_40993020_41076342 | 41061613 | C | T | stop_gained | HIGH | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(94): Show |
a0001a0002a0004others(8): Show | a0001c0005a0001c0063a0002c0004others(17): Show | a0001c0005t0002a0001c0063t0002a0002c0004t0002others(17): Show | a0001c0005t0002g0001 a0001c0005t0002g0002 a0001c0005t0002g0028 others(88): Show |
97 | 394 | 0.2462 | 0 | c.572 others(3): Show |
p.Trp others(4): Show |
MROH2B | ENSG00000171495.17 | transcript | ENST00000399564.5 | protein_coding | 6/42 | 1062/5280 | 572/4758 | 191/1585 | chr5 | 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 | |||
MS4A14_chr11_60391459_60422756 | 60397879 | ATT | A | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(248): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(87): Show |
251 | 426 | 0.5892 | -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 | |||
MSLN_chr16_755734_773862 | 765214 | A | AC | frameshift_variant | HIGH | HG01109.hp2 HG01123.hp2 HG01175.hp2 others(5): Show |
a0009a0028a0029 | a0009c0012a0009c0030a0028c0026others(1): Show | a0009c0012t0001a0009c0030t0002a0028c0026t0003others(1): Show | a0009c0012t0001g0008 a0009c0012t0001g0132 a0009c0012t0001g0182 others(5): Show |
8 | 386 | 0.0207 | 1 | c.619 others(4): Show |
p.Arg others(5): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 9/18 | 819/2197 | 620/1869 | 207/622 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
MTA1_chr14_105414827_105475729 | 105466438 | G | GC | frameshift_variant | HIGH | HG00544.hp1 HG00597.hp1 HG00639.hp1 others(21): Show |
a0004a0005 | a0004c0003a0005c0005 | a0004c0003t0001a0005c0005t0001 | a0004c0003t0001g0039 a0004c0003t0001g0041 a0004c0003t0001g0078 others(21): Show |
24 | 302 | 0.0795 | 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 | ||
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 | |||||||
NBPF11_chr1_148097151_148157281 | 148105470 | C | CATCT | frameshift_variant | HIGH | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(153): Show |
a0002a0003a0004others(14): Show | a0002c0002a0002c0023a0002c0041others(17): Show | a0002c0002t0002a0002c0002t0014a0002c0002t0018others(25): Show | a0002c0002t0002g0001 a0002c0002t0002g0021 a0002c0002t0002g0022 others(145): Show |
156 | 386 | 0.4041 | 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 | 149544596 | ACGTACCA others(4730): Show |
A | exon_loss_variant | HIGH | HG00609.hp2 HG00738.hp2 HG01069.hp1 others(34): Show |
a0001a0023a0028 | a0001c0001a0023c0024a0028c0039 | a0001c0001t0001a0001c0001t0008a0001c0001t0025others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(30): Show |
37 | 256 | 0.1445 | -4737 | c.999 others(16): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 83/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF8_chr1_120410035_120474676 | 120436615 | CAAACAGC others(6346): Show |
C | exon_loss_variant | HIGH | HG00280.hp2 HG00408.hp2 HG00609.hp1 others(72): Show |
a0001 | a0001c0002a0001c0009a0001c0013others(7): Show | a0001c0002t0001a0001c0002t0009a0001c0002t0010others(21): Show | a0001c0002t0001g0006 a0001c0002t0001g0119 a0001c0002t0001g0121 others(71): Show |
75 | 290 | 0.2586 | -6353 | c.122 others(12): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 5/23 | 1094/7256 | INFO_REALIGN_3_PRIME | 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 | |||
NIPSNAP3B_chr9_104759129_104782764 | 104772909 | G | A | splice_donor_variant others(1): Show |
HIGH | HG02055.hp2 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0029 | 2 | 450 | 0.0044 | 0 | c.667 others(5): Show |
NIPSNAP3B | ENSG00000165028.12 | transcript | ENST00000374762.4 | protein_coding | 5/5 | chr9 | 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 | 29382018 | G | GAACCCAC others(6): Show |
frameshift_variant | HIGH | HG00423.hp2 HG01074.hp1 HG01255.hp2 others(14): Show |
a0008a0023a0040 | a0008c0007a0008c0066a0023c0020others(1): Show | a0008c0007t0004a0008c0007t0022a0008c0066t0004others(2): Show | a0008c0007t0004g0002 a0008c0007t0004g0057 a0008c0007t0004g0059 others(11): Show |
17 | 426 | 0.0399 | 13 | c.291 others(22): Show |
p.Pro others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5660/6369 | 2913/3486 | 971/1161 | chr16 | TogoVar | |||
NPIPB11_chr16_29376310_29411711 | 29382145 | CCCCCGCA others(132): Show |
C | frameshift_variant | HIGH | HG00423.hp2 HG01074.hp1 HG01255.hp2 others(15): Show |
a0008a0023a0040others(1): Show | a0008c0007a0008c0066a0023c0020others(2): Show | a0008c0007t0004a0008c0007t0022a0008c0066t0004others(3): Show | a0008c0007t0004g0002 a0008c0007t0004g0057 a0008c0007t0004g0059 others(12): Show |
18 | 281 | 0.0641 | -139 | c.264 others(9): Show |
p.Glu others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5533/6369 | 2648/3486 | 883/1161 | 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 | |||
NUTM2A_chr10_87220448_87239978 | 87226077 | TC | T | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(378): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(65): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(74): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(158): Show |
381 | 402 | 0.9478 | -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(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 |