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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DGKH_chr13_42043648_42247896 | 42159244 | C | CTTTTTTT others(25): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG02083.hp2 NA18986.hp2 NA19077.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0005a0001c0001t0085a0001c0008t0052 | a0001c0001t0005g0068a0001c0001t0085g0266a0001c0008t0052g0070 | 3 | 316 | 0.0095 | 32 | c.623 others(43): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DMBT1_chr10_122555754_122648736 | 122601633 | CTTAACCT others(12170): Show |
C | exon_loss_variant | HIGH | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(96): Show |
a0003a0004a0007others(32): Show | a0003c0005a0003c0017a0003c0086others(38): Show | a0003c0005t0001a0003c0017t0001a0003c0086t0002others(44): Show | a0003c0005t0001g0091a0003c0005t0001g0092a0003c0005t0001g0094others(90): Show | 99 | 282 | 0.3511 | -12177 | c.350 others(9): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | 3523/7984 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
DMBT1_chr10_122555754_122648736 | 122601776 | CGTTCTTG others(16213): Show |
C | exon_loss_variant | HIGH | HG00673.hp1 HG01192.hp2 HG02027.hp1 others(24): Show |
a0002a0016a0049others(3): Show | a0002c0002a0002c0095a0002c0099others(5): Show | a0002c0002t0001a0002c0095t0001a0002c0099t0002others(5): Show | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0017others(21): Show | 27 | 282 | 0.0957 | -16220 | c.335 others(9): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | 3373/7984 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
DNAH11_chr7_21538039_21906839 | 21543345 | G | T | stop_gained | HIGH | HG00099.hp2 HG00323.hp2 HG00423.hp1 others(104): Show |
a0008a0009a0016others(81): Show | a0008c0214a0008c0262a0008c0266others(98): Show | a0008c0214t0006a0008c0262t0001a0008c0266t0005others(99): Show | a0008c0214t0006g0175a0008c0262t0001g0139a0008c0266t0005g0137others(104): Show | 107 | 298 | 0.3591 | 0 | c.100 others(3): Show |
p.Glu others(3): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 1/82 | 307/14343 | 100/13551 | 34/4516 | chr7 | TogoVar | ||
DRD4_chr11_632269_645706 | 639791 | A | AC | frameshift_variant | HIGH | HG00544.hp1 HG00642.hp2 HG01109.hp2 others(10): Show |
a0000 | a0000c0007a0000c0011a0000c0030others(2): Show | a0000c0007t0001a0000c0007t0002a0000c0011t0001others(3): Show | a0000c0007t0001g0001a0000c0007t0001g0003a0000c0007t0001g0005others(7): Show | 13 | 421 | 0.0309 | 1 | c.546 others(4): Show |
p.Ala others(5): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 3/4 | 583/1399 | 547/1260 | 183/419 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
DYNLT5_chr1_66747459_66784047 | 66776404 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00099.hp2 HG00323.hp2 HG00544.hp1 others(52): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0010a0003c0003t0021 | a0003c0003t0002g0007a0003c0003t0002g0011a0003c0003t0002g0012others(30): Show | 55 | 402 | 0.1368 | 0 | c.336 others(5): Show |
DYNLT5 | ENSG00000152760.10 | transcript | ENST00000282670.7 | protein_coding | 4/4 | chr1 | TogoVar | ||||||
EBLN2_chr3_73056659_73068337 | 73062330 | C | CA | frameshift_variant | HIGH | HG00099.hp1 HG00423.hp2 HG00597.hp1 others(111): Show |
a0002a0005a0006 | a0002c0002a0002c0009a0005c0006others(1): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0009others(8): Show | a0002c0002t0002g0000a0002c0002t0003g0000a0002c0002t0009g0000others(8): Show | 114 | 428 | 0.2664 | 1 | c.250 others(4): Show |
p.Arg others(4): Show |
EBLN2 | ENSG00000255423.1 | transcript | ENST00000533473.1 | protein_coding | 1/1 | 674/1679 | 251/819 | 84/272 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
EFCAB2_chr1_244964682_245092837 | 244970321 | T | TCCTCC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(112): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(2): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0024others(112): Show | 115 | 290 | 0.3966 | 5 | c.-90 others(16): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EFCAB2_chr1_244964682_245092837 | 244970444 | G | A | splice_donor_variant others(1): Show |
HIGH | NA19077.hp2 NA19081.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0117a0001c0002t0002g0118 | 2 | 290 | 0.0069 | 0 | c.25+ others(4): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
ERV3-1_chr7_64985356_65011687 | 64992360 | G | A | stop_gained | HIGH | HG00140.hp1 HG00408.hp2 HG00558.hp2 others(60): Show |
a0003a0013 | a0003c0003a0013c0019 | a0003c0003t0001a0013c0019t0001 | a0003c0003t0001g0003a0003c0003t0001g0015a0003c0003t0001g0021others(12): Show | 63 | 458 | 0.1376 | 0 | c.667 others(3): Show |
p.Arg others(4): Show |
ERV3-1 | ENSG00000213462.5 | transcript | ENST00000394323.3 | protein_coding | 2/2 | 1202/3206 | 667/1815 | 223/604 | chr7 | TogoVar | ||
FAM166B_chr9_35556831_35568878 | 35562396 | A | ATAGT | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00438.hp1 HG00558.hp2 others(84): Show |
a0002a0003 | a0002c0003a0003c0004a0003c0005 | a0002c0003t0001a0002c0003t0002a0003c0004t0001others(1): Show | a0002c0003t0001g0003a0002c0003t0001g0015a0002c0003t0001g0017others(4): Show | 87 | 436 | 0.1995 | 4 | c.719 others(11): Show |
p.Tyr others(5): Show |
FAM166B | ENSG00000215187.13 | transcript | ENST00000399742.7 | protein_coding | 5/6 | 772/1054 | 722/828 | 241/275 | chr9 | TogoVar | ||
FAM25A_chr10_87015294_87029730 | 87020355 | G | T | stop_gained | HIGH | HG00423.hp2 HG01993.hp2 HG02004.hp1 others(14): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0005a0002c0004t0001g0050 | 17 | 444 | 0.0383 | 0 | c.31G others(2): Show |
p.Glu others(3): Show |
FAM25A | ENSG00000188100.9 | transcript | ENST00000343959.5 | protein_coding | 1/3 | 62/357 | 31/270 | 11/89 | chr10 | TogoVar | ||
FAM47A_chrX_34124752_34137314 | 34130502 | CT | C | frameshift_variant | HIGH | NA19077.hp2 | a0010 | a0010c0015 | a0010c0015t0001 | a0010c0015t0001g0000 | 1 | 324 | 0.0031 | -1 | c.177 others(5): Show |
p.Glu others(5): Show |
FAM47A | ENSG00000185448.12 | transcript | ENST00000346193.5 | protein_coding | 1/1 | 1812/2563 | 1776/2376 | 592/791 | chrX | TogoVar | ||
FAM86B1_chr8_12177106_12199082 | 12189807 | C | T | splice_donor_variant others(1): Show |
HIGH | HG00323.hp2 HG00423.hp1 HG00558.hp2 others(52): Show |
a0001a0002a0007 | a0001c0001a0001c0005a0001c0015others(4): Show | a0001c0001t0002a0001c0005t0002a0001c0005t0013others(7): Show | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0006others(39): Show | 55 | 176 | 0.3125 | 0 | c.240 others(5): Show |
FAM86B1 | ENSG00000186523.15 | transcript | ENST00000448228.7 | protein_coding | 3/6 | chr8 | TogoVar | ||||||
FAM90A8_chr8_7733387_7746396 | 7739771 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(69): Show |
a0001a0003a0004others(28): Show | a0001c0001a0003c0003a0003c0006others(29): Show | a0001c0001t0000a0003c0003t0000a0003c0006t0000others(29): Show | a0001c0001t0000g0002a0001c0001t0000g0003a0001c0001t0000g0016others(53): Show | 72 | 108 | 0.6667 | 0 | c.432 others(5): Show |
FAM90A8 | ENSG00000285937.1 | transcript | ENST00000647775.1 | protein_coding | 3/3 | chr8 | TogoVar | ||||||
FLG2_chr1_152343735_152365006 | 152350656 | G | T | stop_gained | HIGH | HG00323.hp2 HG00423.hp2 HG00597.hp2 others(152): Show |
a0002a0004a0006others(10): Show | a0002c0002a0002c0045a0004c0004others(13): Show | a0002c0002t0002a0002c0002t0011a0002c0002t0018others(16): Show | a0002c0002t0002g0002a0002c0002t0002g0074a0002c0002t0002g0076others(20): Show | 155 | 422 | 0.3673 | 0 | c.713 others(4): Show |
p.Ser others(5): Show |
FLG2 | ENSG00000143520.6 | transcript | ENST00000388718.5 | protein_coding | 3/3 | 7203/9124 | 7130/7176 | 2377/2391 | chr1 | TogoVar | ||
FMO2_chr1_171180300_171217686 | 171208951 | C | T | stop_gained | HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(346): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0015a0002c0002others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(30): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(195): Show | 349 | 366 | 0.9536 | 0 | c.141 others(4): Show |
p.Gln others(4): Show |
FMO2 | ENSG00000094963.14 | transcript | ENST00000209929.10 | protein_coding | 9/9 | 1480/5215 | 1414/1608 | 472/535 | chr1 | TogoVar | ||
FOXD4L3_chr9_68297867_68310084 | 68303273 | A | T | stop_gained | HIGH | HG00423.hp1 HG00544.hp2 HG00621.hp1 others(81): Show |
a0001a0007 | a0001c0002a0001c0003a0001c0014others(2): Show | a0001c0002t0001a0001c0002t0003a0001c0003t0001others(3): Show | a0001c0002t0001g0000a0001c0002t0003g0000a0001c0003t0001g0000others(3): Show | 84 | 175 | 0.4800 | 0 | c.322 others(3): Show |
p.Lys others(4): Show |
FOXD4L3 | ENSG00000187559.6 | transcript | ENST00000342833.4 | protein_coding | 1/1 | 407/2218 | 322/1254 | 108/417 | 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 | ||
GAGE1_chrX_49594020_49613538 | 49600752 | CA | C | frameshift_variant | HIGH | NA19077.hp1 | a0010 | a0010c0011 | a0010c0011t0012 | a0010c0011t0012g0062 | 1 | 311 | 0.0032 | -1 | c.114 others(4): Show |
p.Ala others(4): Show |
GAGE1 | ENSG00000205777.19 | transcript | ENST00000381700.11 | protein_coding | 3/5 | 230/2993 | 114/354 | 38/117 | chrX | TogoVar | ||
GAGE1_chrX_49594020_49613538 | 49603765 | TC | T | frameshift_variant | HIGH | NA19077.hp1 | a0010 | a0010c0011 | a0010c0011t0012 | a0010c0011t0012g0062 | 1 | 311 | 0.0032 | -1 | c.305 others(4): Show |
p.Pro others(5): Show |
GAGE1 | ENSG00000205777.19 | transcript | ENST00000381700.11 | protein_coding | 4/5 | 421/2993 | 305/354 | 102/117 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
GDPD2_chrX_70418314_70438381 | 70429600 | C | CA | frameshift_variant | HIGH | NA19077.hp2 | a0007 | a0007c0011 | a0007c0011t0001 | a0007c0011t0001g0054 | 1 | 318 | 0.0031 | 1 | c.104 others(5): Show |
p.Asn others(5): Show |
GDPD2 | ENSG00000130055.14 | transcript | ENST00000374382.4 | protein_coding | 11/16 | 1125/1993 | 1047/1620 | 349/539 | INFO_REALIGN_3_PRIME | chrX | 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 | ||
GOLGA6L1_chr15_23122066_23141822 | 23129472 | G | A | stop_gained others(1): Show |
HIGH | HG00408.hp1 HG00438.hp2 HG00544.hp2 others(52): Show |
a0002a0004a0006others(22): Show | a0002c0003a0002c0046a0002c0048others(24): Show | a0002c0003t0002a0002c0003t0018a0002c0046t0002others(27): Show | a0002c0003t0002g0005a0002c0003t0002g0015a0002c0003t0002g0016others(40): Show | 55 | 204 | 0.2696 | 0 | c.198 others(4): Show |
p.Gln others(4): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 8/9 | 2072/3822 | 1981/2007 | 661/668 | chr15 | TogoVar | ||
GOLGA6L1_chr15_23122066_23141822 | 23136631 | GGGAGGTG others(46): Show |
G | frameshift_variant | HIGH | NA19077.hp1 | a0032 | a0032c0070 | a0032c0070t0025 | a0032c0070t0025g0136 | 1 | 204 | 0.0049 | -53 | c.48_ others(59): Show |
p.Thr others(4): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 191/3822 | 48/2007 | 16/668 | chr15 | TogoVar | ||
GOLGA6L24_chr15_28342851_28363084 | 28357882 | C | A | stop_gained | HIGH | NA19077.hp2 | a0020 | a0020c0020 | a0020c0020t0001 | a0020c0020t0001g0028 | 1 | 200 | 0.0050 | 0 | c.142 others(3): Show |
p.Glu others(3): Show |
GOLGA6L24 | ENSG00000237850.8 | transcript | ENST00000568624.2 | protein_coding | 1/9 | 203/4304 | 142/2499 | 48/832 | chr15 | TogoVar | ||
GOLGA6L24_chr15_28342851_28363084 | 28357903 | TTTCTTTG others(16): Show |
T | frameshift_variant | HIGH | NA19077.hp2 | a0020 | a0020c0020 | a0020c0020t0001 | a0020c0020t0001g0028 | 1 | 200 | 0.0050 | -23 | c.98_ others(29): Show |
p.Thr others(4): Show |
GOLGA6L24 | ENSG00000237850.8 | transcript | ENST00000568624.2 | protein_coding | 1/9 | 181/4304 | 98/2499 | 33/832 | 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 | ||
GPR78_chr4_8575392_8595023 | 8582572 | A | AC | frameshift_variant | HIGH | HG00621.hp1 HG02080.hp2 HG04115.hp1 others(16): Show |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0002a0004c0004t0003others(8): Show | a0004c0004t0001g0009a0004c0004t0001g0175a0004c0004t0002g0001others(15): Show | 19 | 462 | 0.0411 | 1 | c.712 others(4): Show |
p.Arg others(5): Show |
GPR78 | ENSG00000155269.12 | transcript | ENST00000382487.5 | protein_coding | 2/3 | 1304/4343 | 713/1092 | 238/363 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
HEATR4_chr14_73473484_73563947 | 73529735 | GTGTGCTA others(27720): Show |
G | splice_acceptor_variant others(5): Show |
HIGH | HG00423.hp1 HG00597.hp2 HG00609.hp2 others(93): Show |
a0001a0009a0016 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0008others(5): Show | a0001c0001t0002g0163a0001c0001t0002g0194a0001c0001t0002g0205others(92): Show | 96 | 368 | 0.2609 | -27727 | c.-15 others(17): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 2/18 | chr14 | 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 | ||
HP_chr16_72049505_72066055 | 72056410 | GGCTTCTA others(1717): Show |
G | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00438.hp2 others(102): Show |
a0002 | a0002c0002a0002c0006a0002c0018 | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(4): Show | a0002c0002t0001g0002a0002c0002t0001g0018a0002c0002t0001g0023others(6): Show | 105 | 425 | 0.2471 | -1724 | c.191 others(15): Show |
HP | ENSG00000257017.10 | transcript | ENST00000355906.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
HRNR_chr1_152207076_152229193 | 152213336 | C | CAG | frameshift_variant | HIGH | HG03669.hp2 NA18947.hp1 NA19043.hp2 others(5): Show |
a0001 | a0001c0034a0001c0061a0001c0062others(4): Show | a0001c0034t0001a0001c0061t0001a0001c0062t0001others(4): Show | a0001c0034t0001g0022a0001c0061t0001g0140a0001c0062t0001g0141others(4): Show | 8 | 418 | 0.0191 | 2 | c.829 others(11): Show |
p.Gly others(6): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 8368/9629 | 8292/8553 | 2764/2850 | chr1 | TogoVar | ||
HRNR_chr1_152207076_152229193 | 152213340 | C | CCTGTTGG others(10926): Show |
frameshift_variant others(1): Show |
HIGH | NA19077.hp1 | a0001 | a0001c0064 | a0001c0064t0001 | a0001c0064t0001g0143 | 1 | 418 | 0.0024 | 10933 | c.828 others(10942): Show |
p.Ala others(6): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 8364/9629 | 8288/8553 | 2763/2850 | chr1 | TogoVar | ||
HRNR_chr1_152207076_152229193 | 152223252 | AT | A | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(379): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(208): Show | a0001c0001t0002a0001c0001t0012a0001c0002t0002others(209): Show | a0001c0001t0002g0002a0001c0001t0002g0026a0001c0001t0002g0052others(217): Show | 382 | 418 | 0.9139 | -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 |
a0001a0006a0007 | a0001c0001a0006c0008a0007c0010 | a0001c0001t0001a0001c0001t0002a0006c0008t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(71): Show | 96 | 442 | 0.2172 | 1 | c.812 others(6): Show |
HSD17B13 | ENSG00000170509.12 | transcript | ENST00000328546.5 | protein_coding | 6/6 | chr4 | TogoVar | ||||||
IDH3G_chrX_153780768_153799375 | 153787112 | A | AC | frameshift_variant | HIGH | NA19077.hp2 | a0008 | a0008c0005 | a0008c0005t0001 | a0008c0005t0001g0074 | 1 | 299 | 0.0033 | 1 | c.715 others(4): Show |
p.Val others(5): Show |
IDH3G | ENSG00000067829.20 | transcript | ENST00000217901.10 | protein_coding | 9/13 | 764/1335 | 715/1182 | 239/393 | chrX | TogoVar | ||
IDH3G_chrX_153780768_153799375 | 153790260 | C | CG | frameshift_variant | HIGH | NA19077.hp2 | a0008 | a0008c0005 | a0008c0005t0001 | a0008c0005t0001g0074 | 1 | 299 | 0.0033 | 1 | c.167 others(4): Show |
p.Val others(4): Show |
IDH3G | ENSG00000067829.20 | transcript | ENST00000217901.10 | protein_coding | 4/13 | 216/1335 | 167/1182 | 56/393 | chrX | TogoVar | ||
IDH3G_chrX_153780768_153799375 | 153790574 | TC | T | frameshift_variant others(1): Show |
HIGH | NA19077.hp2 | a0008 | a0008c0005 | a0008c0005t0001 | a0008c0005t0001g0074 | 1 | 299 | 0.0033 | -1 | c.124 others(4): Show |
p.Glu others(4): Show |
IDH3G | ENSG00000067829.20 | transcript | ENST00000217901.10 | protein_coding | 3/13 | 173/1335 | 124/1182 | 42/393 | chrX | 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 | a0002c0002t0002g0000a0002c0002t0012g0000a0002c0002t0013g0000others(13): Show | 194 | 457 | 0.4245 | 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 | ||
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 | a0002c0003t0001g0007a0002c0003t0001g0023a0002c0003t0001g0026others(80): Show | 132 | 448 | 0.2946 | -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 | ||
KAT2A_chr17_42108111_42126367 | 42118011 | ACTGAAGC others(32): Show |
A | splice_acceptor_variant others(3): Show |
HIGH | HG02615.hp2 HG02976.hp1 HG03098.hp2 others(10): Show |
a0002 | a0002c0002a0002c0014 | a0002c0002t0001a0002c0002t0002a0002c0014t0001 | a0002c0002t0001g0057a0002c0002t0002g0007a0002c0002t0002g0018others(2): Show | 13 | 354 | 0.0367 | -39 | c.118 others(51): Show |
p.Ala others(13): Show |
KAT2A | ENSG00000108773.11 | transcript | ENST00000225916.10 | protein_coding | 8/18 | 1249/3115 | 1181/2514 | 394/837 | chr17 | TogoVar | ||
KCTD1_chr18_26449910_26553553 | 26547048 | T | TG | frameshift_variant | HIGH | HG00438.hp2 HG00621.hp2 HG00673.hp2 others(32): Show |
a0002 | a0002c0003a0002c0006a0002c0014others(1): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0004others(4): Show | a0002c0003t0001g0300a0002c0003t0001g0301a0002c0003t0001g0302others(32): Show | 35 | 338 | 0.1036 | 1 | c.148 others(5): Show |
p.Thr others(5): Show |
KCTD1 | ENSG00000134504.14 | transcript | ENST00000580059.7 | protein_coding | 1/5 | 1505/3448 | 1488/2598 | 496/865 | chr18 | 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 | |||||
KMT2B_chr19_35713003_35743878 | 35733317 | A | AC | frameshift_variant | HIGH | HG00621.hp2 HG00741.hp2 HG02080.hp1 others(14): Show |
a0005a0008a0010others(1): Show | a0005c0007a0005c0015a0005c0017others(5): Show | a0005c0007t0001a0005c0015t0001a0005c0017t0001others(6): Show | a0005c0007t0001g0001a0005c0007t0001g0002a0005c0007t0001g0012others(10): Show | 17 | 396 | 0.0429 | 1 | c.677 others(5): Show |
p.Pro others(6): Show |
KMT2B | ENSG00000272333.8 | transcript | ENST00000420124.4 | protein_coding | 28/37 | 6790/8485 | 6774/8148 | 2258/2715 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
KRBA1_chr7_149709951_149739575 | 149720179 | CCCCAGGC others(968): Show |
C | exon_loss_variant others(4): Show |
HIGH | NA19077.hp1 | a0015 | a0015c0017 | a0015c0017t0001 | a0015c0017t0001g0164 | 1 | 414 | 0.0024 | -975 | c.259 others(14): Show |
KRBA1 | ENSG00000133619.18 | transcript | ENST00000496259.6 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
KRBA1_chr7_149709951_149739575 | 149723729 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(279): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0009a0001c0025others(24): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(30): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(137): Show | 282 | 414 | 0.6812 | 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(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 | ||
KRT28_chr17_40787196_40804959 | 40799586 | TTATCCAG others(19): Show |
T | frameshift_variant | HIGH | NA19077.hp1 | a0007 | a0007c0015 | a0007c0015t0001 | a0007c0015t0001g0039 | 1 | 466 | 0.0022 | -26 | c.282 others(33): Show |
p.Asn others(4): Show |
KRT28 | ENSG00000173908.9 | transcript | ENST00000306658.8 | protein_coding | 1/8 | 373/1692 | 282/1395 | 94/464 | chr17 | TogoVar |