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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GOLGA6L2_chr15_23434038_23452243 | 23440394 | CT | C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(387): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0005a0001c0010others(59): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(82): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 others(119): Show |
390 | 394 | 0.9898 | -1 | c.208 others(5): Show |
p.Arg others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2142/3499 | 2080/2730 | 694/909 | chr15 | TogoVar | |||
GOLGA6L6_chr15_20526856_20546800 | 20535014 | C | A | stop_gained | HIGH | HG00408.hp1 HG00609.hp1 HG00735.hp1 others(91): Show |
a0001a0007a0010others(10): Show | a0001c0001a0001c0010a0001c0031others(19): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(27): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 others(47): Show |
94 | 212 | 0.4434 | 0 | c.142 others(4): Show |
p.Glu others(4): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 1511/4013 | 1420/2175 | 474/724 | chr15 | TogoVar | |||
GOLGA6L6_chr15_20526856_20546800 | 20535092 | C | A | stop_gained | HIGH | HG01071.hp2 HG01255.hp1 HG01257.hp2 others(7): Show |
a0010a0011a0019 | a0010c0014a0010c0015a0011c0012others(2): Show | a0010c0014t0007a0010c0015t0009a0011c0012t0007others(2): Show | a0010c0014t0007g0013 a0010c0015t0009g0037 a0010c0015t0009g0038 others(3): Show |
10 | 212 | 0.0472 | 0 | c.134 others(4): Show |
p.Glu others(4): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 1433/4013 | 1342/2175 | 448/724 | chr15 | TogoVar | |||
GPR33_chr14_31477875_31493039 | 31483548 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(422): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(81): Show |
425 | 446 | 0.9529 | 0 | c.418 others(3): Show |
p.Arg others(4): Show |
GPR33 | ENSG00000214943.5 | transcript | ENST00000399285.5 | protein_coding | 2/2 | 567/1240 | 418/1002 | 140/333 | chr14 | TogoVar | |||
GSDMB_chr17_39899595_39923635 | 39908216 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(122): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004a0002c0002t0005 | a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0014 others(47): Show |
125 | 398 | 0.3141 | 0 | c.662 others(5): Show |
GSDMB | ENSG00000073605.19 | transcript | ENST00000418519.6 | protein_coding | 5/10 | chr17 | TogoVar | |||||||
GSTM1_chr1_109682817_109698745 | 109682998 | TTCCAGTC others(15740): Show |
T | transcript_ablation | HIGH | HG00099.hp1 HG00323.hp2 HG00438.hp1 others(92): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 95 | 255 | 0.3725 | -15747 | c.-48 others(11): Show |
p.0? | GSTM1 | ENSG00000134184.13 | transcript | ENST00000309851.10 | protein_coding | 8/8 | chr1 | TogoVar | ||||||
H2BW2_chrX_104034956_104047454 | 104040193 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(109): Show |
a0002a0005 | a0002c0002a0002c0006a0005c0008 | a0002c0002t0001a0002c0002t0002a0002c0006t0001others(1): Show | a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0012 others(4): Show |
112 | 330 | 0.3394 | 0 | c.199 others(3): Show |
p.Gln others(3): Show |
H2BW2 | ENSG00000101812.15 | transcript | ENST00000675318.3 | protein_coding | 1/4 | 238/870 | 199/447 | 67/148 | chrX | TogoVar | |||
H6PD_chr1_9229774_9276337 | 9244919 | CCCCAGGC others(1): Show |
C | frameshift_variant others(1): Show |
HIGH | HG00140.hp2 HG00642.hp1 HG01255.hp1 others(37): Show |
a0001a0002a0018others(1): Show | a0001c0001a0001c0004a0001c0020others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0004t0005others(11): Show | a0001c0001t0002g0001 a0001c0001t0002g0026 a0001c0001t0002g0053 others(26): Show |
40 | 402 | 0.0995 | -8 | c.-7_ others(12): Show |
p.Met others(3): Show |
H6PD | ENSG00000049239.13 | transcript | ENST00000377403.7 | protein_coding | 2/5 | 297/9147 | 1/2376 | 1/791 | INFO_REALIGN_3_PRIME | chr1 | 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 | |||
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 | 87310240 | T | TA | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00280.hp2 HG00423.hp1 others(93): Show |
a0001a0006a0009 | a0001c0001a0006c0008a0009c0010 | a0001c0001t0001a0001c0001t0002a0006c0008t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(70): Show |
96 | 440 | 0.2182 | 1 | c.812 others(6): Show |
HSD17B13 | ENSG00000170509.12 | transcript | ENST00000328546.5 | protein_coding | 6/6 | chr4 | TogoVar | |||||||
IDO2_chr8_39929651_40021392 | 40015416 | T | A | stop_gained | HIGH | HG00280.hp1 HG00558.hp2 HG00597.hp1 others(103): Show |
a0003a0004a0005 | a0003c0003a0004c0004a0005c0005 | a0003c0003t0002a0003c0003t0003a0003c0003t0010others(14): Show | a0003c0003t0002g0014 a0003c0003t0002g0015 a0003c0003t0002g0021 others(102): Show |
106 | 358 | 0.2961 | 0 | c.103 others(4): Show |
p.Tyr others(4): Show |
IDO2 | ENSG00000188676.15 | transcript | ENST00000502986.4 | protein_coding | 11/11 | 1623/2599 | 1038/1224 | 346/407 | chr8 | TogoVar | |||
IFI16_chr1_159004907_159060151 | 159045042 | CGTGAAGA others(4128): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG00642.hp1 HG01192.hp1 HG01516.hp2 others(3): Show |
a0006 | a0006c0010a0006c0019 | a0006c0010t0002a0006c0019t0001 | a0006c0010t0002g0027 a0006c0010t0002g0028 a0006c0010t0002g0212 others(1): Show |
6 | 316 | 0.0190 | -4135 | c.149 others(15): Show |
IFI16 | ENSG00000163565.20 | transcript | ENST00000295809.12 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
IFIH1_chr2_162262074_162323684 | 162279995 | C | G | splice_donor_variant others(1): Show |
HIGH | HG01516.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0113 | 1 | 218 | 0.0046 | 0 | c.164 others(6): Show |
IFIH1 | ENSG00000115267.10 | transcript | ENST00000649979.2 | protein_coding | 8/15 | chr2 | 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 | |||
IPO7_chr11_9379652_9453127 | 9438045 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00673.hp1 HG01192.hp2 HG01346.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(17): Show |
20 | 72 | 0.2778 | 1 | c.249 others(7): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
IQCA1L_chr7_151185873_151210496 | 151195597 | TC | T | frameshift_variant | HIGH | HG00408.hp2 HG00621.hp1 HG00639.hp2 others(129): Show |
a0002a0005a0008others(8): Show | a0002c0003a0002c0012a0002c0015others(26): Show | a0002c0003t0001a0002c0012t0001a0002c0015t0001others(26): Show | a0002c0003t0001g0007 a0002c0003t0001g0023 a0002c0003t0001g0026 others(80): Show |
132 | 446 | 0.2960 | -1 | c.137 others(5): Show |
p.Glu others(5): Show |
IQCA1L | ENSG00000278685.4 | transcript | ENST00000615129.4 | protein_coding | 11/19 | 1417/2606 | 1375/2457 | 459/818 | chr7 | 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 | |||
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 | ||||||
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 | ||
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 | |||
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 | |||
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 | |||
KRTAP4-3_chr17_41162231_41173221 | 41168017 | A | AGGCCTGC others(99): Show |
frameshift_variant | HIGH | HG01516.hp2 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0000 | 1 | 408 | 0.0025 | 106 | c.155 others(113): Show |
p.Ser others(4): Show |
KRTAP4-3 | ENSG00000196156.5 | transcript | ENST00000391356.4 | protein_coding | 1/1 | 204/991 | 155/588 | 52/195 | 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 | |||
KRTAP9-6_chr17_41260378_41270860 | 41265460 | TTGTGACC others(5393): Show |
T | frameshift_variant others(2): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(138): Show |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 141 | 248 | 0.5685 | -5400 | c.84_ others(8): Show |
p.Ile others(4): Show |
KRTAP9-6 | ENSG00000212659.2 | transcript | ENST00000391355.2 | protein_coding | 1/1 | 84/483 | 84/483 | 28/160 | chr17 | 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 | |||
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 | ||
LOXHD1_chr18_46472273_46662220 | 46657032 | A | T | start_lost | HIGH | HG00738.hp2 HG01516.hp1 HG01517.hp2 others(5): Show |
a0007a0013 | a0007c0016a0007c0017a0007c0029others(3): Show | a0007c0016t0002a0007c0017t0002a0007c0029t0002others(3): Show | a0007c0016t0002g0001 a0007c0017t0002g0004 a0007c0017t0002g0005 others(4): Show |
8 | 268 | 0.0299 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
LOXHD1 | ENSG00000167210.17 | transcript | ENST00000642948.1 | protein_coding | 1/41 | 189/7208 | 2/6822 | 1/2273 | chr18 | 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 | |||
MARCHF7_chr2_159707506_159776027 | 159714599 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00280.hp1 HG01074.hp2 HG01516.hp2 others(6): Show |
a0004 | a0004c0007 | a0004c0007t0011 | a0004c0007t0011g0020 a0004c0007t0011g0174 a0004c0007t0011g0175 others(5): Show |
9 | 362 | 0.0249 | 0 | c.-10 others(6): Show |
MARCHF7 | ENSG00000136536.15 | transcript | ENST00000409175.6 | protein_coding | 2/11 | chr2 | 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 | 31412380 | TGCTG | T | frameshift_variant | HIGH | HG00280.hp2 HG00323.hp1 HG00438.hp2 others(43): Show |
a0006a0007a0010others(1): Show | a0006c0007a0007c0008a0010c0014others(2): Show | a0006c0007t0004a0007c0008t0005a0010c0014t0003others(2): Show | a0006c0007t0004g0008 a0006c0007t0004g0067 a0006c0007t0004g0068 others(21): Show |
46 | 438 | 0.1050 | -4 | c.953 others(11): 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 | 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 | |||
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 | ||||||
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 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0031 others(2): Show |
85 | 430 | 0.1977 | 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 |
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 | |||
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 | |||
MUC20_chr3_195715978_195738551 | 195726146 | GC | G | frameshift_variant | HIGH | HG01070.hp2 HG01516.hp2 HG01978.hp1 others(2): Show |
a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0016 a0009c0009t0001g0042 a0009c0009t0001g0046 others(2): Show |
5 | 184 | 0.0272 | -1 | c.154 others(5): Show |
p.Thr others(5): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 2/4 | 1575/2493 | 1545/2130 | 515/709 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
NBPF14_chr1_148526385_148601011 | 148533164 | G | C | stop_gained | HIGH | HG01516.hp1 | a0016 | a0016c0094 | a0016c0094t0001 | a0016c0094t0001g0114 | 1 | 220 | 0.0045 | 0 | c.880 others(4): Show |
p.Tyr others(5): Show |
NBPF14 | ENSG00000270629.7 | transcript | ENST00000619423.4 | protein_coding | 71/71 | 9000/10779 | 8808/8967 | 2936/2988 | chr1 | TogoVar | |||
NBPF19_chr1_149470045_149561361 | 149492041 | GGAAGGGG others(7): Show |
G | frameshift_variant | HIGH | HG01516.hp2 | a0029 | a0029c0046 | a0029c0046t0001 | a0029c0046t0001g0011 | 1 | 274 | 0.0036 | -14 | c.169 others(23): Show |
p.Arg others(5): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 15/94 | 2478/13941 | 1692/11532 | 564/3843 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |