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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GSTM1_chr1_109682817_109698745 | 109683926 | ATTCCACA others(14812): Show |
A | transcript_ablation | HIGH | HG02055.hp2 HG02257.hp1 HG02258.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 21 | 270 | 0.0778 | -14819 | c.-39 others(11): Show |
p.0? | GSTM1 | ENSG00000134184.13 | transcript | ENST00000309851.10 | protein_coding | 8/8 | chr1 | TogoVar | ||||||
GSTM1_chr1_109682817_109698745 | 109684196 | CGGAGGGA others(14542): Show |
C | transcript_ablation | HIGH | HG02257.hp2 HG02258.hp2 HG02630.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 5 | 304 | 0.0164 | -14549 | c.-36 others(11): Show |
p.0? | GSTM1 | ENSG00000134184.13 | transcript | ENST00000309851.10 | protein_coding | 8/8 | chr1 | TogoVar | ||||||
GUCA1C_chr3_108902792_108958879 | 108916126 | C | A | splice_donor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(107): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0004others(6): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(6): Show | a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 others(106): Show |
110 | 372 | 0.2957 | 0 | c.442 others(5): Show |
GUCA1C | ENSG00000138472.11 | transcript | ENST00000261047.8 | protein_coding | 3/3 | chr3 | TogoVar | |||||||
HIBCH_chr2_190198920_190324826 | 190319749 | A | G | start_lost | HIGH | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(100): Show |
a0003 | a0003c0003a0003c0004a0003c0009 | a0003c0003t0002a0003c0003t0003a0003c0003t0005others(8): Show | a0003c0003t0002g0179 a0003c0003t0002g0195 a0003c0003t0002g0197 others(97): Show |
103 | 366 | 0.2814 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
HIBCH | ENSG00000198130.16 | transcript | ENST00000359678.10 | protein_coding | 1/14 | 78/2434 | 2/1161 | 1/386 | chr2 | TogoVar | |||
HLA-B_chr6_31348875_31362179 | 31356366 | G | T | stop_gained | HIGH | HG00438.hp2 HG00621.hp2 HG01074.hp1 others(44): Show |
a0015a0016a0018others(6): Show | a0015c0014a0016c0029a0016c0030others(7): Show | a0015c0014t0010a0015c0014t0036a0016c0029t0010others(9): Show | a0015c0014t0010g0020 a0015c0014t0010g0063 a0015c0014t0036g0109 others(12): Show |
47 | 466 | 0.1009 | 0 | c.420 others(3): Show |
p.Tyr others(4): Show |
HLA-B | ENSG00000234745.14 | transcript | ENST00000412585.7 | protein_coding | 3/8 | 441/1536 | 420/1089 | 140/362 | chr6 | TogoVar | |||
HLA-DPB1_chr6_33070990_33094696 | 33080689 | G | T | stop_gained | HIGH | HG00280.hp1 HG00323.hp1 HG00673.hp1 others(113): Show |
a0006a0007a0009others(13): Show | a0006c0008a0006c0010a0006c0037others(15): Show | a0006c0008t0003a0006c0008t0012a0006c0010t0003others(18): Show | a0006c0008t0003g0009 a0006c0008t0003g0013 a0006c0008t0003g0070 others(31): Show |
116 | 454 | 0.2555 | 0 | c.118 others(3): Show |
p.Gly others(3): Show |
HLA-DPB1 | ENSG00000223865.11 | transcript | ENST00000418931.7 | protein_coding | 2/6 | 170/3991 | 118/777 | 40/258 | chr6 | TogoVar | |||
HRG_chr3_186661014_186683234 | 186677185 | G | T | stop_gained | HIGH | HG02717.hp2 HG02896.hp1 HG02897.hp2 |
a0011 | a0011c0012 | a0011c0012t0001 | a0011c0012t0001g0028 a0011c0012t0001g0029 |
3 | 470 | 0.0064 | 0 | c.880 others(3): Show |
p.Glu others(4): Show |
HRG | ENSG00000113905.5 | transcript | ENST00000232003.5 | protein_coding | 7/7 | 898/1947 | 880/1578 | 294/525 | chr3 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152223252 | AT | A | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(378): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(158): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0012others(160): Show | a0001c0001t0002g0001 a0001c0001t0002g0040 a0001c0001t0002g0189 others(169): Show |
381 | 415 | 0.9181 | -1 | c.1de others(2): Show |
p.Met others(3): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 2/3 | 77/9629 | 1/8553 | 1/2850 | chr1 | TogoVar | |||
HSD17B13_chr4_87298794_87327882 | 87313944 | CG | C | frameshift_variant | HIGH | HG00639.hp2 HG01884.hp1 HG02257.hp1 others(25): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0002t0005a0002c0002t0009others(2): Show | a0002c0002t0001g0038 a0002c0002t0001g0056 a0002c0002t0001g0179 others(19): Show |
28 | 439 | 0.0638 | -1 | c.573 others(4): Show |
p.Ala others(5): Show |
HSD17B13 | ENSG00000170509.12 | transcript | ENST00000328546.5 | protein_coding | 5/7 | 614/2368 | 573/903 | 191/300 | chr4 | TogoVar | |||
HSFY2_chrY_18766814_18778735 | 18771937 | A | G | stop_lost | HIGH | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 67 | 0.0149 | 0 | c.120 others(4): Show |
p.Ter others(11): Show |
HSFY2 | ENSG00000169953.12 | transcript | ENST00000304790.3 | protein_coding | 2/2 | 1321/1444 | 1204/1206 | 402/401 | chrY | TogoVar | |||
HTT_chr4_3069681_3248957 | 3074931 | CAGCAA | C | frameshift_variant | HIGH | HG01975.hp2 HG02055.hp1 HG02257.hp2 others(1): Show |
a0016 | a0016c0020a0016c0077 | a0016c0020t0003a0016c0077t0003 | a0016c0020t0003g0175 a0016c0020t0003g0176 a0016c0020t0003g0181 others(1): Show |
4 | 292 | 0.0137 | -5 | c.107 others(12): Show |
p.Gln others(4): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 1/67 | 252/13472 | 107/9429 | 36/3142 | chr4 | TogoVar | |||
HTT_chr4_3069681_3248957 | 3074938 | AG | A | frameshift_variant | HIGH | HG01070.hp1 HG01975.hp2 HG02055.hp1 others(2): Show |
a0016a0034 | a0016c0020a0016c0077a0034c0044 | a0016c0020t0003a0016c0077t0003a0034c0044t0002 | a0016c0020t0003g0175 a0016c0020t0003g0176 a0016c0020t0003g0181 others(2): Show |
5 | 172 | 0.0291 | -1 | c.114 others(4): Show |
p.Gln others(4): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 1/67 | 259/13472 | 114/9429 | 38/3142 | chr4 | TogoVar | |||
IDI2_chr10_1013910_1030859 | 1019517 | T | A | stop_lost | HIGH | HG00621.hp1 HG01167.hp1 HG01167.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0005a0001c0001t0013a0001c0002t0005others(2): Show | a0001c0001t0005g0014 a0001c0001t0005g0019 a0001c0001t0005g0022 others(12): Show |
27 | 432 | 0.0625 | 0 | c.684 others(3): Show |
p.Ter others(11): Show |
IDI2 | ENSG00000148377.6 | transcript | ENST00000277517.2 | protein_coding | 5/5 | 749/1356 | 684/684 | 228/227 | chr10 | TogoVar | |||
IFNA10_chr9_21201181_21212143 | 21207038 | A | T | stop_gained | HIGH | HG00099.hp1 HG00323.hp1 HG00544.hp2 others(191): Show |
a0002 | a0002c0002a0002c0003a0002c0004others(9): Show | a0002c0002t0002a0002c0002t0012a0002c0002t0013others(13): Show | a0002c0002t0002g0000 a0002c0002t0012g0000 a0002c0002t0013g0000 others(13): Show |
194 | 456 | 0.4254 | 0 | c.60T others(2): Show |
p.Cys others(3): Show |
IFNA10 | ENSG00000186803.3 | transcript | ENST00000357374.2 | protein_coding | 1/1 | 106/963 | 60/570 | 20/189 | chr9 | TogoVar | |||
ITIH5_chr10_7554270_7671966 | 7563115 | T | TC | frameshift_variant | HIGH | HG01884.hp2 HG02071.hp2 HG02145.hp1 others(24): Show |
a0005a0007a0008others(4): Show | a0005c0013a0005c0025a0005c0034others(14): Show | a0005c0013t0004a0005c0013t0036a0005c0013t0037others(21): Show | a0005c0013t0004g0113 a0005c0013t0036g0251 a0005c0013t0037g0114 others(24): Show |
27 | 340 | 0.0794 | 1 | c.279 others(5): Show |
p.Thr others(5): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 14/14 | 2870/6716 | 2796/2829 | 932/942 | chr10 | TogoVar | |||
KCNJ16_chr17_70070225_70140608 | 70100767 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00733.hp2 HG01099.hp2 HG01109.hp1 others(47): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0009 a0001c0001t0001g0128 a0001c0001t0001g0240 others(46): Show |
50 | 328 | 0.1524 | 0 | c.-19 others(6): Show |
KCNJ16 | ENSG00000153822.15 | transcript | ENST00000392671.6 | protein_coding | 2/3 | chr17 | TogoVar | |||||||
KCNMB3_chr3_179237771_179256114 | 179242978 | CT | C | frameshift_variant | HIGH | HG00735.hp2 HG00738.hp2 HG01069.hp1 others(31): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0004 | a0003c0003t0002g0002 a0003c0003t0002g0016 a0003c0003t0002g0025 others(5): Show |
34 | 368 | 0.0924 | -1 | c.753 others(4): Show |
p.Val others(5): Show |
KCNMB3 | ENSG00000171121.17 | transcript | ENST00000392685.7 | protein_coding | 3/3 | 877/1085 | 753/828 | 251/275 | chr3 | TogoVar | |||
KCTD14_chr11_78010715_78028276 | 78023248 | A | T | start_lost | HIGH | HG01891.hp2 HG02055.hp1 HG02257.hp1 others(23): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0003t0002a0002c0003t0004others(2): Show | a0002c0003t0001g0037 a0002c0003t0001g0039 a0002c0003t0001g0063 others(9): Show |
26 | 466 | 0.0558 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
KCTD14 | ENSG00000151364.17 | transcript | ENST00000353172.6 | protein_coding | 1/2 | 29/1673 | 2/768 | 1/255 | chr11 | TogoVar | |||
KDM4A_chr1_43645149_43710518 | 43660291 | CA | C | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(188): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(167): Show |
191 | 368 | 0.5190 | -1 | c.315 others(6): Show |
KDM4A | ENSG00000066135.13 | transcript | ENST00000372396.4 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KIAA0513_chr16_85022795_85099218 | 85071765 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00423.hp1 HG00609.hp2 HG00621.hp2 others(108): Show |
a0001 | a0001c0001a0001c0005a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(34): Show | a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0240 others(103): Show |
111 | 385 | 0.2883 | 1 | c.330 others(6): Show |
KIAA0513 | ENSG00000135709.14 | transcript | ENST00000683363.1 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
KIAA1755_chr20_38205503_38265735 | 38213437 | G | A | stop_gained | HIGH | HG01884.hp1 HG02717.hp1 |
a0017a0023 | a0017c0035a0023c0049 | a0017c0035t0017a0023c0049t0010 | a0017c0035t0017g0261 a0023c0049t0010g0070 |
2 | 356 | 0.0056 | 0 | c.320 others(4): Show |
p.Arg others(5): Show |
KIAA1755 | ENSG00000149633.12 | transcript | ENST00000279024.9 | protein_coding | 14/14 | 3443/6377 | 3208/3603 | 1070/1200 | chr20 | TogoVar | |||
KIF2B_chr17_53817927_53830193 | 53824641 | T | G | stop_gained | HIGH | HG02717.hp2 | a0009 | a0009c0015 | a0009c0015t0001 | a0009c0015t0001g0000 | 1 | 428 | 0.0023 | 0 | c.160 others(4): Show |
p.Tyr others(4): Show |
KIF2B | ENSG00000141200.8 | transcript | ENST00000268919.6 | protein_coding | 1/1 | 1715/2267 | 1608/2022 | 536/673 | chr17 | TogoVar | |||
KLHDC7A_chr1_18475930_18490974 | 18481735 | C | T | stop_gained | HIGH | HG02280.hp2 HG02486.hp1 HG02717.hp1 others(2): Show |
a0006 | a0006c0009 | a0006c0009t0009 | a0006c0009t0009g0000 | 5 | 436 | 0.0115 | 0 | c.754 others(3): Show |
p.Gln others(4): Show |
KLHDC7A | ENSG00000179023.9 | transcript | ENST00000400664.3 | protein_coding | 1/1 | 806/5045 | 754/2334 | 252/777 | chr1 | TogoVar | |||
KLK12_chr19_51024094_51040002 | 51031874 | A | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(247): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(93): Show |
250 | 446 | 0.5605 | 0 | c.457 others(5): Show |
KLK12 | ENSG00000186474.16 | transcript | ENST00000684732.1 | protein_coding | 4/5 | chr19 | 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 | |||
KRTAP1-1_chr17_41035541_41046450 | 41041247 | G | A | stop_gained | HIGH | HG00558.hp1 HG00558.hp2 HG00597.hp2 others(75): Show |
a0002 | a0002c0002a0002c0006a0002c0012 | a0002c0002t0001a0002c0006t0001a0002c0012t0001 | a0002c0002t0001g0000 a0002c0006t0001g0000 a0002c0012t0001g0000 |
78 | 402 | 0.1940 | 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 |
a0003a0004a0005others(10): Show | a0003c0004a0003c0026a0003c0043others(14): Show | a0003c0004t0006a0003c0026t0005a0003c0043t0006others(15): Show | a0003c0004t0006g0000 a0003c0026t0005g0000 a0003c0043t0006g0000 others(15): Show |
35 | 474 | 0.0738 | 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 | |||
KRTAP10-6_chr21_44586268_44597505 | 44591702 | G | T | stop_gained | HIGH | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(113): Show |
a0002a0006a0010others(9): Show | a0002c0002a0002c0006a0002c0024others(19): Show | a0002c0002t0002a0002c0006t0002a0002c0024t0002others(21): Show | a0002c0002t0002g0000 a0002c0006t0002g0000 a0002c0024t0002g0000 others(21): Show |
116 | 426 | 0.2723 | 0 | c.783 others(3): Show |
p.Cys others(4): Show |
KRTAP10-6 | ENSG00000188155.11 | transcript | ENST00000400368.1 | protein_coding | 1/1 | 804/1238 | 783/1098 | 261/365 | chr21 | TogoVar | |||
KRTAP13-2_chr21_30366390_30377271 | 30371809 | A | T | stop_gained | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(118): Show |
a0002a0006a0010 | a0002c0002a0002c0008a0006c0009others(1): Show | a0002c0002t0001a0002c0008t0001a0006c0009t0001others(1): Show | a0002c0002t0001g0000 a0002c0008t0001g0000 a0006c0009t0001g0000 others(1): Show |
121 | 460 | 0.2630 | 0 | c.405 others(3): Show |
p.Cys others(4): Show |
KRTAP13-2 | ENSG00000182816.9 | transcript | ENST00000399889.4 | protein_coding | 1/1 | 463/882 | 405/528 | 135/175 | chr21 | TogoVar | |||
KRTAP19-6_chr21_30536535_30546864 | 30541662 | AG | A | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(300): Show |
a0001a0003a0004 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0001a0001c0005t0001a0001c0006t0001others(2): Show | a0001c0001t0001g0000 a0001c0005t0001g0000 a0001c0006t0001g0000 others(2): Show |
303 | 392 | 0.7730 | -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(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 | |||
LAMA5_chr20_62304065_62372312 | 62316997 | C | CG | frameshift_variant | HIGH | HG00423.hp1 HG00673.hp2 HG00733.hp1 others(16): Show |
a0007a0016a0018others(9): Show | a0007c0047a0007c0093a0007c0099others(15): Show | a0007c0047t0001a0007c0093t0001a0007c0099t0001others(15): Show | a0007c0047t0001g0085 a0007c0093t0001g0116 a0007c0099t0001g0093 others(16): Show |
19 | 183 | 0.1038 | 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 | |||
LCNL1_chr9_136977993_136990758 | 136984956 | C | CGGCCCCT others(31): Show |
frameshift_variant | HIGH | HG02717.hp2 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0004 | 1 | 370 | 0.0027 | 38 | c.459 others(45): Show |
p.Leu others(5): Show |
LCNL1 | ENSG00000214402.7 | transcript | ENST00000408973.3 | protein_coding | 3/3 | 1054/1836 | 460/495 | 154/164 | INFO_REALIGN_3_PRIME | chr9 | 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 | 54220017 | GACCCCCG others(7983): Show |
G | exon_loss_variant | HIGH | HG02630.hp2 HG02717.hp2 HG02818.hp2 others(1): Show |
a0004a0008 | a0004c0004a0008c0007 | a0004c0004t0002a0008c0007t0010 | a0004c0004t0002g0007 a0008c0007t0010g0013 |
4 | 453 | 0.0088 | -7990 | c.-50 others(14): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 7/13 | 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 | |||
LILRB4_chr19_54657985_54673718 | 54667792 | AG | A | splice_donor_variant others(1): Show |
HIGH | HG00280.hp2 HG01074.hp1 HG01081.hp2 others(18): Show |
a0022a0032a0034others(9): Show | a0022c0025a0032c0062a0032c0064others(11): Show | a0022c0025t0001a0032c0062t0005a0032c0064t0001others(11): Show | a0022c0025t0001g0017 a0022c0025t0001g0213 a0032c0062t0005g0234 others(13): Show |
21 | 486 | 0.0432 | -1 | c.120 others(7): Show |
LILRB4 | ENSG00000186818.13 | transcript | ENST00000695418.1 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
LILRB4_chr19_54657985_54673718 | 54667795 | T | A | splice_donor_variant others(1): Show |
HIGH | HG00280.hp2 HG01074.hp1 HG01081.hp2 others(18): Show |
a0022a0032a0034others(9): Show | a0022c0025a0032c0062a0032c0064others(11): Show | a0022c0025t0001a0032c0062t0005a0032c0064t0001others(11): Show | a0022c0025t0001g0017 a0022c0025t0001g0213 a0032c0062t0005g0234 others(13): Show |
21 | 486 | 0.0432 | 0 | c.120 others(6): Show |
LILRB4 | ENSG00000186818.13 | transcript | ENST00000695418.1 | protein_coding | 11/11 | chr19 | TogoVar | |||||||
LOC122513141_chr9_137212494_137224361 | 137218467 | GGAGCGGG others(28): Show |
G | frameshift_variant | HIGH | HG02559.hp2 HG02717.hp1 |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0000 | 2 | 388 | 0.0052 | -35 | c.476 others(42): Show |
p.Arg others(5): Show |
LOC122513141 | ENSG00000284976.2 | transcript | ENST00000645271.2 | protein_coding | 1/1 | 979/1868 | 476/606 | 159/201 | INFO_REALIGN_3_PRIME | chr9 | 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 | |||
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 | 31412383 | TG | T | frameshift_variant | HIGH | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(100): Show |
a0001a0005a0008others(4): Show | a0001c0002a0005c0006a0005c0022others(5): Show | a0001c0002t0001a0005c0006t0001a0005c0022t0001others(5): Show | a0001c0002t0001g0002 a0001c0002t0001g0031 a0001c0002t0001g0032 others(27): Show |
103 | 438 | 0.2352 | -1 | c.953 others(4): Show |
p.Gly others(5): Show |
MICA | ENSG00000204520.14 | transcript | ENST00000449934.7 | protein_coding | 5/6 | 991/1370 | 953/999 | 318/332 | 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 | |||
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 | ||||||
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 | |||
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 |