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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HLA-DRB1_chr6_32573775_32594848 | 32584364 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(128): Show |
a0002a0003a0005others(20): Show | a0002c0002a0003c0003a0005c0008others(21): Show | a0002c0002t0005a0003c0003t0002a0005c0008t0006others(22): Show | a0002c0002t0005g0005 a0002c0002t0005g0011 a0002c0002t0005g0017 others(53): Show |
131 | 203 | 0.6453 | 0 | c.115 others(3): Show |
p.Gln others(3): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 2/6 | 221/1223 | 115/801 | 39/266 | chr6 | TogoVar | |||
HLA-DRB1_chr6_32573775_32594848 | 32584366 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(133): Show |
a0002a0003a0005others(21): Show | a0002c0002a0003c0003a0005c0008others(22): Show | a0002c0002t0005a0003c0003t0002a0005c0008t0006others(23): Show | a0002c0002t0005g0005 a0002c0002t0005g0011 a0002c0002t0005g0017 others(54): Show |
136 | 208 | 0.6538 | 0 | c.113 others(3): Show |
p.Trp others(3): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 2/6 | 219/1223 | 113/801 | 38/266 | chr6 | TogoVar | |||
HP_chr16_72049505_72066055 | 72057480 | ACTGAGCA others(1708): Show |
A | exon_loss_variant | HIGH | HG00733.hp2 HG00738.hp2 HG01074.hp1 others(55): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008 | a0001c0001t0002g0004 a0001c0001t0002g0032 a0001c0001t0003g0004 others(5): Show |
58 | 424 | 0.1368 | -1715 | c.265 others(15): Show |
HP | ENSG00000257017.10 | transcript | ENST00000355906.10 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr16 | 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 | |||
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 | |||
ICAM2_chr17_63997595_64025633 | 64020522 | C | T | splice_donor_variant others(1): Show |
HIGH | HG02257.hp2 HG02622.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 |
3 | 390 | 0.0077 | 0 | c.-45 others(5): Show |
ICAM2 | ENSG00000108622.11 | transcript | ENST00000579788.6 | protein_coding | 1/4 | chr17 | 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 | |||
IFNK_chr9_27519290_27531498 | 27524366 | G | GTGTT | frameshift_variant | HIGH | HG02004.hp1 HG02257.hp1 HG02486.hp2 others(5): Show |
a0004 | a0004c0004 | a0004c0004t0005a0004c0004t0010 | a0004c0004t0005g0009 a0004c0004t0010g0009 |
8 | 446 | 0.0179 | 4 | c.34_ others(9): Show |
p.Trp others(4): Show |
IFNK | ENSG00000147896.4 | transcript | ENST00000276943.3 | protein_coding | 1/2 | 85/1164 | 38/624 | 13/207 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
IL34_chr16_70641559_70665682 | 70660097 | C | A | stop_gained | HIGH | HG00140.hp2 HG00323.hp2 HG01123.hp2 others(15): Show |
a0003a0008 | a0003c0003a0008c0013 | a0003c0003t0001a0003c0003t0002a0003c0003t0015others(1): Show | a0003c0003t0001g0012 a0003c0003t0001g0014 a0003c0003t0001g0015 others(10): Show |
18 | 436 | 0.0413 | 0 | c.639 others(3): Show |
p.Tyr others(4): Show |
IL34 | ENSG00000157368.12 | transcript | ENST00000288098.7 | protein_coding | 6/6 | 1028/1613 | 639/729 | 213/242 | chr16 | TogoVar | |||
IPO7_chr11_9379652_9453127 | 9438045 | G | GTTT | splice_acceptor_variant others(1): Show |
HIGH | HG01243.hp2 HG02257.hp2 HG02622.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0003g0294 a0001c0001t0003g0296 a0001c0001t0003g0297 others(6): Show |
9 | 61 | 0.1475 | 3 | c.249 others(16): 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 | |||
IRX5_chr16_54925865_54939485 | 54933218 | G | GC | frameshift_variant | HIGH | HG00408.hp1 HG00408.hp2 HG00597.hp1 others(30): Show |
a0003a0004 | a0003c0004a0004c0005 | a0003c0004t0001a0004c0005t0001a0004c0005t0002others(2): Show | a0003c0004t0001g0001 a0003c0004t0001g0009 a0004c0005t0001g0001 others(4): Show |
33 | 387 | 0.0853 | 1 | c.805 others(4): Show |
p.Arg others(5): Show |
IRX5 | ENSG00000176842.16 | transcript | ENST00000394636.9 | protein_coding | 3/3 | 1140/2398 | 806/1452 | 269/483 | INFO_REALIGN_3_PRIME | chr16 | 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 | |||
ITIH5_chr10_7554270_7671966 | 7579903 | G | A | stop_gained | HIGH | HG02257.hp2 | a0024 | a0024c0059 | a0024c0059t0003 | a0024c0059t0003g0215 | 1 | 339 | 0.0029 | 0 | c.127 others(4): Show |
p.Arg others(4): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 9/14 | 1344/6716 | 1270/2829 | 424/942 | chr10 | TogoVar | |||
ITPR2_chr12_26330352_26838194 | 26681871 | T | TACTC | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(101): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(46): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(89): Show | a0001c0001t0001g0008 a0001c0001t0001g0047 a0001c0001t0001g0052 others(101): Show |
104 | 140 | 0.7429 | 4 | c.140 others(17): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 13/56 | chr12 | TogoVar | |||||||
JSRP1_chr19_2247252_2261417 | 2255312 | C | G | start_lost | HIGH | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(111): Show |
a0002 | a0002c0003a0002c0004a0002c0008others(4): Show | a0002c0003t0001a0002c0004t0001a0002c0008t0001others(4): Show | a0002c0003t0001g0006 a0002c0003t0001g0007 a0002c0003t0001g0011 others(23): Show |
114 | 434 | 0.2627 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
JSRP1 | ENSG00000167476.10 | transcript | ENST00000300961.10 | protein_coding | 2/7 | 68/1138 | 3/996 | 1/331 | chr19 | 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 | ||||||
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 | ||
KIF26A_chr14_104133587_104185894 | 104177436 | C | CG | frameshift_variant | HIGH | HG00673.hp2 HG01099.hp2 HG01169.hp2 others(18): Show |
a0002a0012a0013others(1): Show | a0002c0013a0002c0019a0002c0023others(11): Show | a0002c0013t0001a0002c0013t0002a0002c0013t0003others(15): Show | a0002c0013t0001g0360 a0002c0013t0002g0126 a0002c0013t0002g0358 others(18): Show |
21 | 372 | 0.0565 | 1 | c.465 others(5): Show |
p.Thr others(6): Show |
KIF26A | ENSG00000066735.16 | transcript | ENST00000423312.7 | protein_coding | 12/15 | 4789/6889 | 4653/5649 | 1551/1882 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||
KLF16_chr19_1847399_1868579 | 1854587 | C | CG | frameshift_variant | HIGH | HG00438.hp2 HG00735.hp2 HG01099.hp2 others(23): Show |
a0002a0007 | a0002c0004a0002c0005a0007c0009 | a0002c0004t0002a0002c0004t0004a0002c0004t0005others(5): Show | a0002c0004t0002g0025 a0002c0004t0002g0079 a0002c0004t0002g0085 others(19): Show |
26 | 396 | 0.0657 | 1 | c.630 others(4): Show |
p.Gly others(5): Show |
KLF16 | ENSG00000129911.9 | transcript | ENST00000250916.6 | protein_coding | 2/2 | 712/2901 | 630/759 | 210/252 | chr19 | TogoVar | |||
KLHL24_chr3_183630623_183689519 | 183635795 | T | C | splice_donor_variant others(1): Show |
HIGH | HG01069.hp2 HG01071.hp2 HG01175.hp2 others(23): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0009a0001c0001t0021a0001c0001t0035others(6): Show | a0001c0001t0009g0043 a0001c0001t0009g0045 a0001c0001t0009g0046 others(21): Show |
26 | 310 | 0.0839 | 0 | c.-12 others(6): Show |
KLHL24 | ENSG00000114796.16 | transcript | ENST00000242810.11 | protein_coding | 1/7 | chr3 | 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 | |||
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 | |||
KRTAP4-8_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 | |||
LILRB3_chr19_54211278_54228007 | 54220028 | CTCACCAG others(7972): Show |
C | exon_loss_variant | HIGH | HG02257.hp1 HG02976.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 2 | 123 | 0.0163 | -7979 | 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 | |||
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 | |||
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 | |||
LRRC37A2_chr17_46507468_46560646 | 46523791 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG01167.hp1 HG02257.hp2 HG02451.hp1 others(2): Show |
a0005a0007a0008 | a0005c0005a0007c0007a0008c0008 | a0005c0005t0002a0007c0007t0003a0008c0008t0003 | a0005c0005t0002g0065 a0007c0007t0003g0094 a0008c0008t0003g0104 others(2): Show |
5 | 108 | 0.0463 | 1 | c.282 others(7): Show |
LRRC37A2 | ENSG00000238083.10 | transcript | ENST00000576629.6 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MADD_chr11_47265133_47335031 | 47285079 | C | T | stop_gained | HIGH | HG00639.hp2 HG01106.hp2 HG02257.hp2 |
a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0177 a0006c0009t0001g0178 a0006c0009t0001g0187 |
3 | 342 | 0.0088 | 0 | c.229 others(4): Show |
p.Arg others(4): Show |
MADD | ENSG00000110514.20 | transcript | ENST00000706887.1 | protein_coding | 13/37 | 2498/6036 | 2296/4953 | 766/1650 | chr11 | 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 | |||
MAP3K4_chr6_160986769_161122380 | 161115245 | G | GAGTGACC others(3): Show |
frameshift_variant others(1): Show |
HIGH | HG02257.hp1 | a0011 | a0011c0015 | a0011c0015t0002 | a0011c0015t0002g0305 | 1 | 340 | 0.0029 | 10 | c.475 others(19): Show |
p.Met others(6): Show |
MAP3K4 | ENSG00000085511.20 | transcript | ENST00000392142.9 | protein_coding | 26/27 | 4925/5500 | 4762/4827 | 1588/1608 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
MBD3L5_chr19_7025578_7038011 | 7032889 | G | AGATGAAG others(18253): Show |
frameshift_variant others(1): Show |
HIGH | HG02257.hp2 | a0011 | a0011c0016 | a0011c0016t0001 | a0011c0016t0001g0031 | 1 | 64 | 0.0156 | 18260 | c.621 others(18267): Show |
p.Gly others(5): Show |
MBD3L5 | ENSG00000237247.6 | transcript | ENST00000329753.5 | protein_coding | 2/2 | 656/778 | 622/627 | 208/208 | chr19 | TogoVar | |||
MOK_chr14_102223836_102310164 | 102263549 | G | A | stop_gained | HIGH | HG01070.hp1 HG01071.hp2 HG01099.hp2 others(18): Show |
a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0009 a0003c0002t0002g0010 a0003c0002t0002g0014 others(18): Show |
21 | 250 | 0.0840 | 0 | c.280 others(3): Show |
p.Arg others(3): Show |
MOK | ENSG00000080823.23 | transcript | ENST00000361847.7 | protein_coding | 4/12 | 476/1909 | 280/1260 | 94/419 | 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 | ||||||
MROH2A_chr2_233773330_233838418 | 233823665 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00544.hp2 HG00609.hp1 HG00609.hp2 others(41): Show |
a0001a0002a0004others(12): Show | a0001c0035a0002c0003a0002c0016others(23): Show | a0001c0035t0001a0002c0003t0001a0002c0016t0001others(23): Show | a0001c0035t0001g0233 a0002c0003t0001g0109 a0002c0016t0001g0294 others(41): Show |
44 | 376 | 0.1170 | 0 | c.411 others(6): Show |
MROH2A | ENSG00000185038.15 | transcript | ENST00000389758.4 | protein_coding | 35/41 | chr2 | TogoVar | |||||||
MROH6_chr8_143561192_143577772 | 143571685 | C | CG | frameshift_variant | HIGH | HG01255.hp1 HG01255.hp2 HG02257.hp1 others(5): Show |
a0009a0011 | a0009c0010a0009c0025a0011c0016others(1): Show | a0009c0010t0001a0009c0010t0017a0009c0025t0020others(3): Show | a0009c0010t0001g0083 a0009c0010t0001g0084 a0009c0010t0001g0085 others(5): Show |
8 | 436 | 0.0183 | 1 | c.583 others(4): Show |
p.Arg others(5): Show |
MROH6 | ENSG00000204839.9 | transcript | ENST00000398882.8 | protein_coding | 3/14 | 641/3265 | 583/2160 | 195/719 | chr8 | TogoVar | |||
MRPL42_chr12_93462514_93521214 | 93479377 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG02257.hp1 HG02572.hp1 HG02630.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0135a0001c0001t0136others(2): Show | a0001c0001t0022g0026 a0001c0001t0022g0163 a0001c0001t0022g0165 others(4): Show |
7 | 385 | 0.0182 | 1 | c.135 others(6): Show |
MRPL42 | ENSG00000198015.14 | transcript | ENST00000549982.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | 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 |