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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GHR_chr5_42418439_42726878 | 42628209 | TTTATATG others(2672): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG00280.hp2 HG00423.hp2 HG00621.hp2 others(86): Show |
a0001 | a0001c0001a0001c0004a0001c0008others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0021 others(86): Show |
89 | 208 | 0.4279 | -2679 | c.71- others(15): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GLT6D1_chr9_135618648_135644540 | 135624500 | CA | C | frameshift_variant | HIGH | HG00280.hp2 HG00323.hp1 HG00438.hp2 others(84): Show |
a0002a0005a0006others(1): Show | a0002c0003a0002c0004a0002c0007others(5): Show | a0002c0003t0001a0002c0004t0003a0002c0004t0007others(7): Show | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0032 others(50): Show |
87 | 434 | 0.2005 | -1 | c.427 others(4): Show |
p.Trp others(5): Show |
GLT6D1 | ENSG00000204007.8 | transcript | ENST00000371763.6 | protein_coding | 5/5 | 681/1534 | 427/831 | 143/276 | chr9 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82345107 | A | ATGTAGCC others(54): Show |
frameshift_variant others(1): Show |
HIGH | HG00733.hp1 HG01433.hp2 HG03225.hp1 |
a0013 | a0013c0012 | a0013c0012t0002 | a0013c0012t0002g0018 | 3 | 238 | 0.0126 | 61 | c.752 others(68): Show |
p.Cys others(5): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 852/4452 | 752/1569 | 251/522 | chr15 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82345110 | C | CGT | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(63): Show |
a0002a0013a0029others(2): Show | a0002c0002a0002c0049a0013c0012others(3): Show | a0002c0002t0002a0002c0002t0011a0002c0002t0017others(7): Show | a0002c0002t0002g0001 a0002c0002t0002g0017 a0002c0002t0002g0037 others(21): Show |
66 | 188 | 0.3511 | 2 | c.749 others(9): Show |
p.Cys others(5): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 849/4452 | 749/1569 | 250/522 | chr15 | TogoVar | |||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(430): Show |
frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(212): Show |
a0001a0006a0015others(8): Show | a0001c0001a0001c0014a0001c0023others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 others(43): Show |
215 | 306 | 0.7026 | 437 | c.239 others(446): Show |
p.Gly others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | |||
GOLGA6L2_chr15_23434038_23452243 | 23440318 | T | TCCCGCAT others(208): Show |
frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(283): Show |
a0001a0003a0006others(19): Show | a0001c0001a0001c0005a0001c0010others(44): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(55): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 others(82): Show |
286 | 393 | 0.7277 | 215 | c.215 others(224): Show |
p.Ser others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2218/3499 | 2156/2730 | 719/909 | chr15 | TogoVar | |||
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 | |||
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 | |||
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 | ||||||
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 | |||||||
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 | |||
HLA-A_chr6_29937532_29950870 | 29943463 | T | A | stop_gained | HIGH | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(85): Show |
a0001a0004a0031others(3): Show | a0001c0001a0004c0004a0031c0031others(3): Show | a0001c0001t0002a0004c0004t0004a0031c0031t0002others(3): Show | a0001c0001t0002g0002 a0001c0001t0002g0026 a0001c0001t0002g0027 others(7): Show |
88 | 328 | 0.2683 | 0 | c.539 others(3): Show |
p.Leu others(4): Show |
HLA-A | ENSG00000206503.14 | transcript | ENST00000376809.10 | protein_coding | 3/8 | 561/1535 | 539/1098 | 180/365 | 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 | |||
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 | 72056410 | GGCTTCTA others(1717): Show |
G | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00438.hp2 others(102): Show |
a0002 | a0002c0002a0002c0005a0002c0016 | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(4): Show | a0002c0002t0001g0002 a0002c0002t0001g0018 a0002c0002t0001g0022 others(6): Show |
105 | 424 | 0.2476 | -1724 | c.191 others(15): Show |
HP | ENSG00000257017.10 | transcript | ENST00000355906.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr16 | 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 | ||||||
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 | |||||||
IDI2_chr10_1013910_1030859 | 1019770 | C | T | stop_gained | HIGH | HG00733.hp2 HG01346.hp1 HG01981.hp1 others(2): Show |
a0002 | a0002c0005a0002c0009 | a0002c0005t0001a0002c0009t0001 | a0002c0005t0001g0020 a0002c0005t0001g0059 a0002c0009t0001g0126 |
5 | 432 | 0.0116 | 0 | c.431 others(3): Show |
p.Trp others(4): Show |
IDI2 | ENSG00000148377.6 | transcript | ENST00000277517.2 | protein_coding | 5/5 | 496/1356 | 431/684 | 144/227 | chr10 | 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 | |||
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 | |||
KASH5_chr19_49383249_49422990 | 49390927 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00733.hp1 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0062 | 1 | 352 | 0.0028 | 0 | c.43+ others(4): Show |
KASH5 | ENSG00000161609.10 | transcript | ENST00000447857.8 | protein_coding | 2/19 | 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 | |||||||
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 | ||
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 | |||||||
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 | ||||||
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 | |||||||
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 | |||
LAMA5_chr20_62304065_62372312 | 62309401 | C | CG | frameshift_variant | HIGH | HG00733.hp2 HG01175.hp2 HG01243.hp1 others(9): Show |
a0032a0039a0041others(9): Show | a0032c0068a0039c0096a0041c0050others(9): Show | a0032c0068t0001a0039c0096t0002a0041c0050t0001others(9): Show | a0032c0068t0001g0029 a0039c0096t0002g0088 a0041c0050t0001g0058 others(9): Show |
12 | 184 | 0.0652 | 1 | c.110 others(6): Show |
p.Val others(6): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 80/80 | 11089/11426 | 11022/11088 | 3674/3695 | chr20 | 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 | |||
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 | |||
LILRA2_chr19_54568790_54595287 | 54587305 | C | T | stop_gained | HIGH | HG00733.hp1 HG03195.hp2 |
a0008 | a0008c0012 | a0008c0012t0020 | a0008c0012t0020g0031 | 2 | 426 | 0.0047 | 0 | c.141 others(4): Show |
p.Gln others(4): Show |
LILRA2 | ENSG00000239998.7 | transcript | ENST00000391738.8 | protein_coding | 8/8 | 1500/4482 | 1411/1452 | 471/483 | 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 | |||
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 | |||
LRRC69_chr8_91097619_91224257 | 91133094 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00639.hp1 HG00733.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007 | a0001c0001t0001a0002c0002t0001a0002c0007t0001 | a0001c0001t0001g0308 a0002c0002t0001g0062 a0002c0002t0001g0064 others(8): Show |
11 | 315 | 0.0349 | 1 | c.384 others(6): Show |
LRRC69 | ENSG00000214954.9 | transcript | ENST00000448384.3 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
LRRC69_chr8_91097619_91224257 | 91200794 | T | A | splice_donor_variant others(1): Show |
HIGH | HG00733.hp1 HG01934.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 a0001c0001t0001g0192 |
2 | 316 | 0.0063 | 0 | c.933 others(5): Show |
LRRC69 | ENSG00000214954.9 | transcript | ENST00000448384.3 | protein_coding | 7/7 | chr8 | 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 | |||
MDP1_chr14_24208943_24221066 | 24214060 | CA | C | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(91): Show |
a0002a0004 | a0002c0002a0002c0004a0004c0005 | a0002c0002t0001a0002c0002t0002a0002c0004t0001others(1): Show | a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0009 others(11): Show |
94 | 402 | 0.2338 | -1 | c.494 others(4): Show |
p.Leu others(5): Show |
MDP1 | ENSG00000213920.9 | transcript | ENST00000288087.12 | protein_coding | 6/6 | 605/723 | 494/531 | 165/176 | chr14 | 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 | 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 | ||
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 | ||||||
MRGPRX3_chr11_18127571_18143488 | 18138122 | G | A | stop_gained | HIGH | HG00733.hp1 HG00741.hp1 HG00741.hp2 others(13): Show |
a0005a0009 | a0005c0007a0009c0012 | a0005c0007t0002a0009c0012t0002 | a0005c0007t0002g0003 a0005c0007t0002g0025 a0005c0007t0002g0035 others(2): Show |
16 | 438 | 0.0365 | 0 | c.920 others(3): Show |
p.Trp others(4): Show |
MRGPRX3 | ENSG00000179826.8 | transcript | ENST00000621697.2 | protein_coding | 2/2 | 1114/1480 | 920/969 | 307/322 | chr11 | 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 | |||||||
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 | |||
MT1G_chr16_56661730_56673065 | 56667382 | T | A | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(125): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0002g0002 others(4): Show |
128 | 468 | 0.2735 | 0 | c.29- others(4): Show |
MT1G | ENSG00000125144.14 | transcript | ENST00000379811.4 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
MUC20_chr3_195715978_195738551 | 195730377 | GCTCTGTC others(8167): Show |
G | exon_loss_variant others(5): Show |
HIGH | HG00544.hp1 HG00609.hp1 HG00673.hp2 others(28): Show |
a0003a0010a0011others(4): Show | a0003c0002a0010c0008a0011c0010others(5): Show | a0003c0002t0002a0010c0008t0002a0011c0010t0002others(5): Show | a0003c0002t0002g0001 a0003c0002t0002g0025 a0003c0002t0002g0028 others(14): Show |
31 | 184 | 0.1685 | -8174 | c.206 others(14): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 4/4 | chr3 | TogoVar |