regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FOXD4L5_chr9_65277101_65290209 | 65283162 | AG | A | frameshift_variant | HIGH | HG00323.hp1 HG00323.hp2 HG00597.hp1 others(52): Show |
a0000 | a0000c0001a0000c0007a0000c0008others(6): Show | a0000c0001t0001a0000c0001t0004a0000c0001t0005others(12): Show | a0000c0001t0001g0000a0000c0001t0004g0000a0000c0001t0005g0000others(12): Show | 55 | 81 | 0.6790 | -1 | c.121 others(5): Show |
p.Trp others(5): Show |
FOXD4L5 | ENSG00000204779.2 | transcript | ENST00000377420.1 | protein_coding | 1/1 | 2047/3109 | 1215/1251 | 405/416 | chr9 | TogoVar | ||
FOXD4_chr9_111231_123417 | 116800 | C | G | stop_lost | HIGH | HG00423.hp1 HG00544.hp1 HG00639.hp1 others(105): Show |
a0000 | a0000c0002a0000c0006a0000c0016others(5): Show | a0000c0002t0001a0000c0002t0002a0000c0002t0009others(9): Show | a0000c0002t0001g0000a0000c0002t0002g0000a0000c0002t0009g0000others(9): Show | 108 | 452 | 0.2389 | 0 | c.132 others(4): Show |
p.Ter others(11): Show |
FOXD4 | ENSG00000170122.6 | transcript | ENST00000382500.4 | protein_coding | 1/1 | 1618/2187 | 1320/1320 | 440/439 | chr9 | TogoVar | ||
FOXO4_chrX_71090851_71108532 | 71096814 | TC | T | frameshift_variant | HIGH | NA19001.hp2 | a0002 | a0002c0006 | a0002c0006t0009 | a0002c0006t0009g0017 | 1 | 295 | 0.0034 | -1 | c.289 others(4): Show |
p.Arg others(4): Show |
FOXO4 | ENSG00000184481.17 | transcript | ENST00000374259.8 | protein_coding | 1/3 | 967/3644 | 289/1518 | 97/505 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
FOXO4_chrX_71090851_71108532 | 71096885 | G | GA | frameshift_variant | HIGH | NA19001.hp2 | a0002 | a0002c0006 | a0002c0006t0009 | a0002c0006t0009g0017 | 1 | 295 | 0.0034 | 1 | c.359 others(4): Show |
p.Arg others(5): Show |
FOXO4 | ENSG00000184481.17 | transcript | ENST00000374259.8 | protein_coding | 1/3 | 1038/3644 | 360/1518 | 120/505 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
FOXO4_chrX_71090851_71108532 | 71100798 | G | GC | frameshift_variant | HIGH | NA19001.hp2 | a0002 | a0002c0006 | a0002c0006t0009 | a0002c0006t0009g0017 | 1 | 295 | 0.0034 | 1 | c.574 others(4): Show |
p.Arg others(5): Show |
FOXO4 | ENSG00000184481.17 | transcript | ENST00000374259.8 | protein_coding | 2/3 | 1253/3644 | 575/1518 | 192/505 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
FOXO4_chrX_71090851_71108532 | 71101035 | A | AC | frameshift_variant | HIGH | NA19001.hp2 | a0002 | a0002c0006 | a0002c0006t0009 | a0002c0006t0009g0017 | 1 | 295 | 0.0034 | 1 | c.808 others(4): Show |
p.Arg others(5): Show |
FOXO4 | ENSG00000184481.17 | transcript | ENST00000374259.8 | protein_coding | 2/3 | 1487/3644 | 809/1518 | 270/505 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
GABRQ_chrX_152632895_152662542 | 152652706 | G | GC | frameshift_variant | HIGH | NA19001.hp1 | a0005 | a0005c0006 | a0005c0006t0012 | a0005c0006t0012g0003 | 1 | 298 | 0.0034 | 1 | c.133 others(5): Show |
p.Leu others(5): Show |
GABRQ | ENSG00000268089.3 | transcript | ENST00000598523.3 | protein_coding | 9/9 | 1639/6468 | 1331/1899 | 444/632 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
GAL3ST3_chr11_66035765_66054161 | 66043477 | C | CG | frameshift_variant | HIGH | HG00621.hp1 HG00673.hp1 HG00673.hp2 others(19): Show |
a0003a0004a0006 | a0003c0005a0003c0015a0003c0016others(2): Show | a0003c0005t0001a0003c0005t0002a0003c0005t0005others(5): Show | a0003c0005t0001g0017a0003c0005t0001g0062a0003c0005t0002g0016others(11): Show | 22 | 394 | 0.0558 | 1 | c.325 others(4): Show |
p.Arg others(5): Show |
GAL3ST3 | ENSG00000175229.7 | transcript | ENST00000312006.5 | protein_coding | 3/3 | 588/3301 | 325/1296 | 109/431 | chr11 | TogoVar | ||
GDPD4_chr11_77211558_77306686 | 77243743 | T | TA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(81): Show |
a0003a0004a0006others(1): Show | a0003c0003a0004c0004a0006c0006others(1): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(6): Show | a0003c0003t0001g0042a0003c0003t0001g0055a0003c0003t0001g0073others(79): Show | 84 | 350 | 0.2400 | 1 | c.119 others(5): Show |
p.Ile others(5): Show |
GDPD4 | ENSG00000178795.10 | transcript | ENST00000315938.5 | protein_coding | 13/17 | 1526/2617 | 1191/1563 | 397/520 | chr11 | 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 | a0002c0003t0001g0009a0002c0003t0001g0014a0002c0003t0001g0019others(58): Show | 87 | 436 | 0.1995 | -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 | ||
GNL3L_chrX_54525219_54572289 | 54540187 | AT | A | frameshift_variant | HIGH | NA19001.hp2 | a0003 | a0003c0002 | a0003c0002t0007 | a0003c0002t0007g0135 | 1 | 277 | 0.0036 | -1 | c.138 others(4): Show |
p.Phe others(4): Show |
GNL3L | ENSG00000130119.17 | transcript | ENST00000360845.3 | protein_coding | 4/16 | 386/8684 | 138/1749 | 46/582 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
GOLGA6L24_chr15_28342851_28363084 | 28350531 | TCACACAT others(15): Show |
T | frameshift_variant | HIGH | NA19001.hp2 | a0031 | a0031c0037 | a0031c0037t0009 | a0031c0037t0009g0065 | 1 | 200 | 0.0050 | -22 | c.219 others(31): Show |
p.Glu others(5): Show |
GOLGA6L24 | ENSG00000237850.8 | transcript | ENST00000568624.2 | protein_coding | 8/9 | 2279/4304 | 2197/2499 | 733/832 | chr15 | TogoVar | ||
GOLGA8S_chr15_23349748_23373341 | 23364403 | G | T | stop_gained | HIGH | HG00280.hp1 HG00438.hp1 HG00544.hp1 others(75): Show |
a0002a0013a0016others(17): Show | a0002c0002a0002c0086a0002c0087others(23): Show | a0002c0002t0001a0002c0002t0020a0002c0086t0001others(24): Show | a0002c0002t0001g0004a0002c0002t0001g0011a0002c0002t0001g0018others(61): Show | 78 | 430 | 0.1814 | 0 | c.144 others(4): Show |
p.Glu others(4): Show |
GOLGA8S | ENSG00000261739.3 | transcript | ENST00000562295.3 | protein_coding | 16/19 | 1509/5186 | 1447/1917 | 483/638 | chr15 | TogoVar | ||
GPR33_chr14_31477875_31493039 | 31483548 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(423): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(82): Show | 426 | 448 | 0.9509 | 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 | ||
H2BW2_chrX_104034956_104047454 | 104040193 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(109): Show |
a0002a0004 | a0002c0002a0002c0007a0004c0009 | a0002c0002t0001a0002c0002t0002a0002c0007t0001others(1): Show | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0013others(4): Show | 112 | 332 | 0.3374 | 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 | ||
HAUS7_chrX_153442668_153475576 | 153470486 | C | CA | frameshift_variant | HIGH | NA19001.hp1 | a0011 | a0011c0015 | a0011c0015t0001 | a0011c0015t0001g0179 | 1 | 321 | 0.0031 | 1 | c.71d others(3): Show |
p.Ser others(4): Show |
HAUS7 | ENSG00000213397.12 | transcript | ENST00000370211.10 | protein_coding | 1/10 | 90/1306 | 71/1077 | 24/358 | chrX | TogoVar | ||
HLA-DQB1_chr6_32654467_32671657 | 32664861 | C | A | stop_gained | HIGH | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(99): Show |
a0005a0009a0010others(2): Show | a0005c0006a0005c0019a0009c0010others(3): Show | a0005c0006t0004a0005c0019t0004a0009c0010t0001others(6): Show | a0005c0006t0004g0005a0005c0006t0004g0016a0005c0006t0004g0022others(15): Show | 102 | 402 | 0.2537 | 0 | c.316 others(3): Show |
p.Glu others(4): Show |
HLA-DQB1 | ENSG00000179344.17 | transcript | ENST00000434651.7 | protein_coding | 2/5 | 366/1605 | 316/786 | 106/261 | chr6 | TogoVar | ||
IGFN1_chr1_201185824_201233952 | 201207060 | G | T | stop_gained | HIGH | NA19001.hp1 | a0080 | a0080c0079 | a0080c0079t0003 | a0080c0079t0003g0229 | 1 | 428 | 0.0023 | 0 | c.216 others(4): Show |
p.Gly others(4): Show |
IGFN1 | ENSG00000163395.17 | transcript | ENST00000335211.9 | protein_coding | 12/24 | 2298/11811 | 2167/11127 | 723/3708 | chr1 | TogoVar | ||
IGFN1_chr1_201185824_201233952 | 201209798 | G | GGCAGGTT others(100): Show |
frameshift_variant others(1): Show |
HIGH | NA19001.hp1 | a0080 | a0080c0079 | a0080c0079t0003 | a0080c0079t0003g0229 | 1 | 428 | 0.0023 | 107 | c.491 others(116): Show |
p.Lys others(6): Show |
IGFN1 | ENSG00000163395.17 | transcript | ENST00000335211.9 | protein_coding | 12/24 | 5048/11811 | 4917/11127 | 1639/3708 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
IL13RA1_chrX_118722606_118799533 | 118727695 | C | CG | frameshift_variant | HIGH | NA18974.hp2 NA19001.hp1 NA19078.hp1 |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0015 | a0002c0003t0001g0122a0002c0003t0001g0251a0002c0003t0015g0091 | 3 | 280 | 0.0107 | 1 | c.62d others(3): Show |
p.Gly others(4): Show |
IL13RA1 | ENSG00000131724.11 | transcript | ENST00000371666.8 | protein_coding | 1/11 | 96/3996 | 63/1284 | 21/427 | INFO_REALIGN_3_PRIME | chrX | 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 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(17): Show | 20 | 314 | 0.0637 | 1 | c.249 others(7): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KCNC3_chr19_50306937_50334377 | 50323201 | C | CG | frameshift_variant | HIGH | HG00438.hp1 HG00597.hp2 HG01109.hp1 others(11): Show |
a0002a0014 | a0002c0003a0002c0009a0014c0016 | a0002c0003t0001a0002c0003t0002a0002c0003t0004others(8): Show | a0002c0003t0001g0039a0002c0003t0001g0176a0002c0003t0002g0065others(10): Show | 14 | 380 | 0.0368 | 1 | c.175 others(5): Show |
p.Pro others(5): Show |
KCNC3 | ENSG00000131398.15 | transcript | ENST00000477616.2 | protein_coding | 2/5 | 2046/6747 | 1751/2274 | 584/757 | chr19 | 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 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(169): Show | 191 | 370 | 0.5162 | -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(35): Show | a0001c0001t0001g0014a0001c0001t0001g0021a0001c0001t0001g0022others(106): Show | 111 | 390 | 0.2846 | 1 | c.330 others(6): Show |
KIAA0513 | ENSG00000135709.14 | transcript | ENST00000683363.1 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
KIAA0513_chr16_85022795_85099218 | 85071781 | A | T | splice_acceptor_variant others(1): Show |
HIGH | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0343 | 1 | 390 | 0.0026 | 0 | c.330 others(5): Show |
KIAA0513 | ENSG00000135709.14 | transcript | ENST00000683363.1 | protein_coding | 2/12 | chr16 | TogoVar | ||||||
KIAA0513_chr16_85022795_85099218 | 85071782 | G | A | splice_acceptor_variant others(1): Show |
HIGH | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0343 | 1 | 390 | 0.0026 | 0 | c.330 others(5): Show |
KIAA0513 | ENSG00000135709.14 | transcript | ENST00000683363.1 | protein_coding | 2/12 | chr16 | TogoVar | ||||||
KIF11_chr10_92588130_92660395 | 92649866 | CCCATCAA others(15): Show |
C | frameshift_variant | HIGH | NA19001.hp2 | a0006 | a0006c0008 | a0006c0008t0004 | a0006c0008t0004g0224 | 1 | 352 | 0.0028 | -22 | c.280 others(31): Show |
p.Pro others(5): Show |
KIF11 | ENSG00000138160.7 | transcript | ENST00000260731.5 | protein_coding | 20/22 | 3049/5016 | 2803/3171 | 935/1056 | chr10 | 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 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(323): Show | 335 | 375 | 0.8933 | 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 | |
KIR3DL1_chr19_54811468_54835778 | 54829458 | C | CA | splice_donor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(59): Show |
a0002a0026 | a0002c0002a0002c0038a0026c0037 | a0002c0002t0002a0002c0002t0012a0002c0002t0013others(2): Show | a0002c0002t0002g0002a0002c0002t0002g0020a0002c0002t0002g0028others(24): Show | 62 | 395 | 0.1570 | 1 | c.110 others(5): Show |
KIR3DL1 | ENSG00000167633.18 | transcript | ENST00000391728.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
KIR3DL1_chr19_54811468_54835778 | 54829965 | AAC | A | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(59): Show |
a0002a0026 | a0002c0002a0002c0038a0026c0037 | a0002c0002t0002a0002c0002t0012a0002c0002t0013others(2): Show | a0002c0002t0002g0002a0002c0002t0002g0020a0002c0002t0002g0028others(24): Show | 62 | 395 | 0.1570 | -2 | c.114 others(11): Show |
p.Thr others(5): Show |
KIR3DL1 | ENSG00000167633.18 | transcript | ENST00000391728.8 | protein_coding | 8/9 | 1178/1871 | 1145/1335 | 382/444 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
KIR3DL1_chr19_54811468_54835778 | 54830138 | C | T | stop_gained | HIGH | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(59): Show |
a0002a0026 | a0002c0002a0002c0038a0026c0037 | a0002c0002t0002a0002c0002t0012a0002c0002t0013others(2): Show | a0002c0002t0002g0002a0002c0002t0002g0020a0002c0002t0002g0028others(24): Show | 62 | 395 | 0.1570 | 0 | c.119 others(4): Show |
p.Gln others(4): Show |
KIR3DL1 | ENSG00000167633.18 | transcript | ENST00000391728.8 | protein_coding | 9/9 | 1231/1871 | 1198/1335 | 400/444 | chr19 | TogoVar | ||
KIR3DL1_chr19_54811468_54835778 | 54830273 | T | C | stop_lost | HIGH | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(59): Show |
a0002a0026 | a0002c0002a0002c0038a0026c0037 | a0002c0002t0002a0002c0002t0012a0002c0002t0013others(2): Show | a0002c0002t0002g0002a0002c0002t0002g0020a0002c0002t0002g0028others(24): Show | 62 | 395 | 0.1570 | 0 | c.133 others(4): Show |
p.Ter others(11): Show |
KIR3DL1 | ENSG00000167633.18 | transcript | ENST00000391728.8 | protein_coding | 9/9 | 1366/1871 | 1333/1335 | 445/444 | chr19 | TogoVar | ||
KRT24_chr17_40692991_40708752 | 40701882 | CA | C | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(201): Show |
a0001a0010a0012 | a0001c0001a0001c0013a0001c0014others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0013t0001others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0011others(54): Show | 204 | 424 | 0.4811 | -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 | ||
KRT37_chr17_41415547_41429585 | 41422807 | G | A | stop_gained | HIGH | HG00408.hp2 HG00544.hp2 HG00609.hp1 others(99): Show |
a0002a0008 | a0002c0002a0002c0020a0008c0009 | a0002c0002t0002a0002c0020t0002a0008c0009t0002 | a0002c0002t0002g0002a0002c0002t0002g0013a0002c0002t0002g0036others(2): Show | 102 | 409 | 0.2494 | 0 | c.703 others(3): Show |
p.Gln others(4): Show |
KRT37 | ENSG00000108417.4 | transcript | ENST00000225550.4 | protein_coding | 3/7 | 765/1743 | 703/1350 | 235/449 | chr17 | TogoVar | ||
KRTAP13-2_chr21_30366390_30377271 | 30371809 | A | T | stop_gained | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(118): Show |
a0002a0007a0008others(1): Show | a0002c0002a0007c0007a0008c0008others(1): Show | a0002c0002t0001a0007c0007t0001a0008c0008t0001others(1): Show | a0002c0002t0001g0000a0007c0007t0001g0000a0008c0008t0001g0000others(1): Show | 121 | 462 | 0.2619 | 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 | ||
KRTAP29-1_chr17_41296826_41307851 | 41302321 | TGTACAGA others(6): Show |
T | frameshift_variant | HIGH | HG00408.hp2 HG00544.hp2 HG00639.hp1 others(82): Show |
a0002a0004a0007 | a0002c0002a0002c0009a0004c0006others(1): Show | a0002c0002t0000a0002c0009t0000a0004c0006t0000others(1): Show | a0002c0002t0000g0000a0002c0009t0000g0000a0004c0006t0000g0000others(1): Show | 85 | 399 | 0.2130 | -13 | c.518 others(20): Show |
p.Pro others(5): Show |
KRTAP29-1 | ENSG00000212658.1 | transcript | ENST00000391353.1 | protein_coding | 1/1 | 530/1026 | 518/1026 | 173/341 | chr17 | TogoVar | ||
LHX1_chr17_36932475_36949612 | 36938318 | AAGTGCTT others(7): Show |
A | frameshift_variant | HIGH | NA19001.hp2 | a0003 | a0003c0008 | a0003c0008t0002 | a0003c0008t0002g0002 | 1 | 385 | 0.0026 | -14 | c.122 others(21): Show |
p.Lys others(4): Show |
LHX1 | ENSG00000273706.5 | transcript | ENST00000614239.1 | protein_coding | 1/5 | 845/3425 | 122/1221 | 41/406 | chr17 | TogoVar | ||
LILRA2_chr19_54568790_54595287 | 54587200 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00544.hp2 HG00558.hp2 HG00597.hp2 others(65): Show |
a0001a0014a0017others(1): Show | a0001c0001a0014c0021a0017c0023others(1): Show | a0001c0001t0003a0001c0001t0010a0001c0001t0035others(3): Show | a0001c0001t0003g0001a0001c0001t0003g0018a0001c0001t0003g0019others(14): Show | 68 | 427 | 0.1593 | 0 | c.130 others(6): Show |
LILRA2 | ENSG00000239998.7 | transcript | ENST00000391738.8 | protein_coding | 7/7 | chr19 | TogoVar | ||||||
LPL_chr8_19934253_19972259 | 19962213 | C | G | stop_gained | HIGH | HG00323.hp1 HG01081.hp1 HG01358.hp1 others(31): Show |
a0002a0009 | a0002c0004a0002c0007a0002c0032others(3): Show | a0002c0004t0004a0002c0004t0025a0002c0007t0004others(4): Show | a0002c0004t0004g0005a0002c0004t0004g0020a0002c0004t0004g0022others(22): Show | 34 | 384 | 0.0885 | 0 | c.142 others(4): Show |
p.Ser others(4): Show |
LPL | ENSG00000175445.17 | transcript | ENST00000650287.1 | protein_coding | 9/10 | 1609/3565 | 1421/1428 | 474/475 | chr8 | TogoVar | ||
MAGEB16_chrX_35793342_35808772 | 35803010 | C | T | stop_gained | HIGH | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(185): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0007others(22): Show | 188 | 288 | 0.6528 | 0 | c.814 others(3): Show |
p.Arg others(4): Show |
MAGEB16 | ENSG00000189023.11 | transcript | ENST00000399988.6 | protein_coding | 2/2 | 957/1719 | 814/975 | 272/324 | chrX | TogoVar | ||
MAGEL2_chr15_23638549_23652867 | 23646183 | T | TG | frameshift_variant | HIGH | HG01192.hp1 HG02056.hp2 HG02135.hp1 others(10): Show |
a0003a0019a0027 | a0003c0003a0019c0036a0027c0028 | a0003c0003t0001a0003c0003t0002a0019c0036t0001others(1): Show | a0003c0003t0001g0000a0003c0003t0002g0000a0019c0036t0001g0000others(1): Show | 13 | 436 | 0.0298 | 1 | c.155 others(5): Show |
p.Pro others(5): Show |
MAGEL2 | ENSG00000254585.5 | transcript | ENST00000650528.1 | protein_coding | 1/1 | 1684/4319 | 1559/3750 | 520/1249 | chr15 | TogoVar | ||
MDP1_chr14_24208943_24221066 | 24214060 | CA | C | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(92): Show |
a0002a0004 | a0002c0002a0002c0004a0004c0005 | a0002c0002t0001a0002c0002t0002a0002c0004t0001others(1): Show | a0002c0002t0001g0004a0002c0002t0001g0006a0002c0002t0001g0009others(11): Show | 95 | 404 | 0.2352 | -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 | ||
MED12_chrX_71113596_71147450 | 71136330 | A | AG | frameshift_variant | HIGH | NA19001.hp2 | a0008 | a0008c0016 | a0008c0016t0001 | a0008c0016t0001g0122 | 1 | 273 | 0.0037 | 1 | c.507 others(5): Show |
p.Leu others(6): Show |
MED12 | ENSG00000184634.17 | transcript | ENST00000374080.8 | protein_coding | 37/45 | 5239/6925 | 5080/6534 | 1694/2177 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MED12_chrX_71113596_71147450 | 71137324 | G | GT | frameshift_variant | HIGH | NA19001.hp2 | a0008 | a0008c0016 | a0008c0016t0001 | a0008c0016t0001g0122 | 1 | 273 | 0.0037 | 1 | c.569 others(5): Show |
p.Tyr others(6): Show |
MED12 | ENSG00000184634.17 | transcript | ENST00000374080.8 | protein_coding | 39/45 | 5850/6925 | 5691/6534 | 1897/2177 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MED12_chrX_71113596_71147450 | 71140651 | C | CA | frameshift_variant | HIGH | NA19001.hp2 | a0008 | a0008c0016 | a0008c0016t0001 | a0008c0016t0001g0122 | 1 | 273 | 0.0037 | 1 | c.606 others(10): Show |
p.Leu others(6): Show |
MED12 | ENSG00000184634.17 | transcript | ENST00000374080.8 | protein_coding | 42/45 | 6221/6925 | 6062/6534 | 2021/2177 | chrX | TogoVar | ||
MED12_chrX_71113596_71147450 | 71140717 | C | CG | frameshift_variant | HIGH | NA19001.hp2 | a0008 | a0008c0016 | a0008c0016t0001 | a0008c0016t0001g0122 | 1 | 273 | 0.0037 | 1 | c.612 others(5): Show |
p.Ser others(6): Show |
MED12 | ENSG00000184634.17 | transcript | ENST00000374080.8 | protein_coding | 42/45 | 6288/6925 | 6129/6534 | 2043/2177 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MED12_chrX_71113596_71147450 | 71141246 | A | AACAGCAG | frameshift_variant | HIGH | NA19001.hp2 | a0008 | a0008c0016 | a0008c0016t0001 | a0008c0016t0001g0122 | 1 | 273 | 0.0037 | 7 | c.628 others(16): Show |
p.Gln others(6): Show |
MED12 | ENSG00000184634.17 | transcript | ENST00000374080.8 | protein_coding | 43/45 | 6451/6925 | 6292/6534 | 2098/2177 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MED12_chrX_71113596_71147450 | 71141277 | A | AGCAGCAC | frameshift_variant | HIGH | NA19001.hp2 | a0008 | a0008c0016 | a0008c0016t0001 | a0008c0016t0001g0122 | 1 | 273 | 0.0037 | 7 | c.631 others(16): Show |
p.Gln others(6): Show |
MED12 | ENSG00000184634.17 | transcript | ENST00000374080.8 | protein_coding | 43/45 | 6475/6925 | 6316/6534 | 2106/2177 | chrX | TogoVar | ||
MGAM_chr7_141990879_142111747 | 142065551 | AGAGCCTG others(29025): Show |
A | exon_loss_variant | HIGH | HG00423.hp1 HG00735.hp2 HG00738.hp2 others(32): Show |
a0003a0011 | a0003c0003a0003c0006a0003c0012others(3): Show | a0003c0003t0001a0003c0006t0001a0003c0012t0001others(3): Show | a0003c0003t0001g0050a0003c0003t0001g0121a0003c0003t0001g0124others(32): Show | 35 | 316 | 0.1108 | -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 | 31412384 | G | GCT | frameshift_variant | HIGH | HG00423.hp1 HG00438.hp1 HG00621.hp1 others(110): Show |
a0000 | a0000c0002a0000c0004a0000c0014others(2): Show | a0000c0002t0001a0000c0002t0006a0000c0004t0001others(4): Show | a0000c0002t0001g0001a0000c0002t0001g0012a0000c0002t0001g0020others(34): Show | 113 | 439 | 0.2574 | 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 |