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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CYP2C19_chr10_94757681_94860547 | 94780653 | G | A | stop_gained | HIGH | HG03490.hp1 HG03492.hp1 HG03831.hp2 others(14): Show |
a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0002a0003c0004t0006g0003a0003c0004t0006g0030others(10): Show | 17 | 364 | 0.0467 | 0 | c.636 others(3): Show |
p.Trp others(4): Show |
CYP2C19 | ENSG00000165841.11 | transcript | ENST00000371321.9 | protein_coding | 4/9 | 661/4131 | 636/1473 | 212/490 | chr10 | TogoVar | ||
CYP4F2_chr19_15873023_15903074 | 15874303 | GGATCACC others(28764): Show |
G | transcript_ablation | HIGH | NA19054.hp2 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 380 | 0.0026 | -28771 | c.-50 others(11): Show |
p.0? | CYP4F2 | ENSG00000186115.13 | transcript | ENST00000221700.11 | protein_coding | 2/13 | chr19 | TogoVar | |||||
DEFB126_chr20_137590_150751 | 145669 | ACC | A | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(230): Show |
a0000a0002 | a0000c0002a0000c0004a0002c0003others(2): Show | a0000c0002t0001a0000c0004t0001a0002c0003t0001others(2): Show | a0000c0002t0001g0001a0000c0002t0001g0002a0000c0002t0001g0003others(16): Show | 233 | 460 | 0.5065 | -2 | c.317 others(9): Show |
p.Pro others(5): Show |
DEFB126 | ENSG00000125788.6 | transcript | ENST00000382398.4 | protein_coding | 2/2 | 356/434 | 317/336 | 106/111 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |
DGKH_chr13_42043648_42247896 | 42159244 | C | CTTTTTTT others(27): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG02572.hp1 HG02818.hp1 HG02896.hp1 others(4): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0039others(3): Show | a0001c0001t0003g0085a0001c0001t0003g0124a0001c0001t0005g0223others(4): Show | 7 | 316 | 0.0222 | 34 | c.623 others(45): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DHDH_chr19_48928699_48949969 | 48939592 | T | TG | frameshift_variant | HIGH | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(129): Show |
a0002a0006a0019others(3): Show | a0002c0002a0002c0005a0002c0027others(7): Show | a0002c0002t0001a0002c0005t0001a0002c0027t0001others(7): Show | a0002c0002t0001g0002a0002c0002t0001g0007a0002c0002t0001g0019others(59): Show | 132 | 436 | 0.3028 | 1 | c.517 others(4): Show |
p.Ala others(5): Show |
DHDH | ENSG00000104808.8 | transcript | ENST00000221403.7 | protein_coding | 4/7 | 541/1064 | 518/1005 | 173/334 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
DHRS11_chr17_36586879_36605804 | 36600156 | CCA | C | splice_acceptor_variant others(2): Show |
HIGH | HG00280.hp1 HG00408.hp1 HG00544.hp1 others(108): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0012others(15): Show | 111 | 385 | 0.2883 | -2 | c.742 others(13): Show |
DHRS11 | ENSG00000278535.5 | transcript | ENST00000618403.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DIPK1C_chr18_74429775_74462308 | 74457200 | G | T | stop_gained | HIGH | NA18966.hp2 NA19054.hp2 |
a0009 | a0009c0013 | a0009c0013t0001 | a0009c0013t0001g0062a0009c0013t0001g0063 | 2 | 484 | 0.0041 | 0 | c.60C others(2): Show |
p.Cys others(3): Show |
DIPK1C | ENSG00000187773.9 | transcript | ENST00000343998.8 | protein_coding | 1/4 | 109/3035 | 60/1260 | 20/419 | chr18 | TogoVar | ||
DNAAF6_chrX_107201611_107249247 | 107216715 | TG | T | frameshift_variant | HIGH | NA19054.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0097 | 1 | 296 | 0.0034 | -1 | c.200 others(4): Show |
p.Gly others(4): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 3/7 | 283/1677 | 200/645 | 67/214 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
DNAJC28_chr21_33483055_33496716 | 33488442 | CAATTA | C | frameshift_variant | HIGH | HG00323.hp1 HG00609.hp1 HG00609.hp2 others(58): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004a0002c0002t0001g0010a0002c0002t0001g0012others(3): Show | 61 | 415 | 0.1470 | -5 | c.947 others(12): Show |
p.Leu others(5): Show |
DNAJC28 | ENSG00000177692.13 | transcript | ENST00000381947.4 | protein_coding | 2/2 | 1097/1485 | 947/1167 | 316/388 | chr21 | TogoVar | ||
DUSP13_chr10_75089436_75104512 | 75099203 | CT | C | frameshift_variant | HIGH | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(161): Show |
a0001 | a0001c0001a0001c0006a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(16): Show | 164 | 404 | 0.4059 | -1 | c.234 others(4): Show |
p.Ala others(4): Show |
DUSP13 | ENSG00000079393.22 | transcript | ENST00000478873.7 | protein_coding | 1/4 | 309/1320 | 234/1005 | 78/334 | chr10 | TogoVar | ||
EGF_chr4_109907883_110018766 | 110011233 | G | GC | frameshift_variant | HIGH | HG00423.hp1 HG00609.hp2 HG00621.hp1 others(44): Show |
a0003a0013a0021 | a0003c0003a0013c0015a0021c0031 | a0003c0003t0005a0003c0003t0008a0003c0003t0018others(4): Show | a0003c0003t0005g0002a0003c0003t0005g0003a0003c0003t0005g0014others(43): Show | 47 | 388 | 0.1211 | 1 | c.340 others(5): Show |
p.Gln others(6): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 24/24 | 3860/6388 | 3407/3624 | 1136/1207 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
EPPK1_chr8_143852324_143883467 | 143864337 | C | CGCGCAGG others(10): Show |
frameshift_variant | HIGH | NA19054.hp2 | a0238 | a0238c0077 | a0238c0077t0002 | a0238c0077t0002g0293 | 1 | 424 | 0.0024 | 17 | c.890 others(26): Show |
p.Asp others(6): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 8991/16005 | 8916/15267 | 2972/5088 | chr8 | TogoVar | ||
FAM47B_chrX_34937796_34949915 | 34943476 | T | TC | frameshift_variant | HIGH | NA19054.hp2 | a0017 | a0017c0020 | a0017c0020t0001 | a0017c0020t0001g0000 | 1 | 331 | 0.0030 | 1 | c.648 others(4): Show |
p.Lys others(5): Show |
FAM47B | ENSG00000189132.6 | transcript | ENST00000329357.6 | protein_coding | 1/1 | 685/2120 | 649/1938 | 217/645 | INFO_REALIGN_3_PRIME | 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 | ||||||
FBXW10_chr17_18739054_18784349 | 18744245 | A | G | start_lost | HIGH | NA18955.hp1 NA19054.hp2 |
a0015 | a0015c0030a0015c0031 | a0015c0030t0001a0015c0031t0003 | a0015c0030t0001g0258a0015c0031t0003g0217 | 2 | 386 | 0.0052 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
FBXW10 | ENSG00000171931.13 | transcript | ENST00000395665.9 | protein_coding | 1/14 | 192/3401 | 1/3159 | 1/1052 | chr17 | 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 | ||
FMO2_chr1_171180300_171217686 | 171209118 | C | CT | frameshift_variant | HIGH | HG00140.hp2 HG00544.hp2 HG00741.hp2 others(78): Show |
a0002a0004 | a0002c0002a0002c0019a0004c0009 | a0002c0002t0004a0002c0002t0005a0002c0002t0025others(2): Show | a0002c0002t0004g0004a0002c0002t0004g0008a0002c0002t0004g0009others(40): Show | 81 | 366 | 0.2213 | 1 | c.158 others(5): Show |
p.Cys others(5): Show |
FMO2 | ENSG00000094963.14 | transcript | ENST00000209929.10 | protein_coding | 9/9 | 1655/5215 | 1589/1608 | 530/535 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
FOLR3_chr11_72130725_72144892 | 72139110 | CTA | C | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(333): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0010others(24): Show | 336 | 384 | 0.8750 | -2 | c.320 others(9): Show |
p.Tyr others(5): Show |
FOLR3 | ENSG00000110203.10 | transcript | ENST00000611028.3 | protein_coding | 3/5 | 370/849 | 320/738 | 107/245 | INFO_REALIGN_3_PRIME | chr11 | 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 | ||
FTHL17_chrX_31066233_31077041 | 31071512 | C | A | stop_gained | HIGH | HG00408.hp2 HG00544.hp2 HG02165.hp2 others(34): Show |
a0002a0004a0006 | a0002c0003a0002c0004a0004c0006others(1): Show | a0002c0003t0001a0002c0004t0001a0004c0006t0001others(1): Show | a0002c0003t0001g0000a0002c0004t0001g0000a0004c0006t0001g0000others(1): Show | 37 | 336 | 0.1101 | 0 | c.442 others(3): Show |
p.Glu others(4): Show |
FTHL17 | ENSG00000132446.7 | transcript | ENST00000359202.5 | protein_coding | 1/1 | 530/809 | 442/552 | 148/183 | chrX | TogoVar | ||
GAB4_chr22_16956936_17013222 | 16988159 | C | A | stop_gained | HIGH | HG00280.hp1 HG00544.hp2 HG00558.hp2 others(145): Show |
a0002a0005 | a0002c0002a0002c0008a0002c0013others(5): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(9): Show | a0002c0002t0001g0002a0002c0002t0001g0005a0002c0002t0001g0007others(74): Show | 148 | 430 | 0.3442 | 0 | c.487 others(3): Show |
p.Gly others(4): Show |
GAB4 | ENSG00000215568.9 | transcript | ENST00000400588.5 | protein_coding | 3/10 | 595/2630 | 487/1725 | 163/574 | chr22 | TogoVar | ||
GAPVD1_chr9_125256826_125372207 | 125301963 | C | CTT | splice_acceptor_variant others(1): Show |
HIGH | HG00544.hp2 HG00621.hp1 HG01081.hp2 others(27): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0007a0001c0002t0038 | a0001c0002t0003g0004a0001c0002t0003g0005a0001c0002t0003g0123others(27): Show | 30 | 340 | 0.0882 | 2 | c.186 others(13): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GBP3_chr1_89001680_89027866 | 89010225 | GATTCTCC others(2709): Show |
G | exon_loss_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(79): Show |
a0002a0016a0018 | a0002c0002a0016c0013a0018c0020 | a0002c0002t0003a0002c0002t0006a0002c0002t0009others(2): Show | a0002c0002t0003g0013a0002c0002t0003g0034a0002c0002t0003g0035others(67): Show | 82 | 436 | 0.1881 | -2716 | c.868 others(16): Show |
GBP3 | ENSG00000117226.12 | transcript | ENST00000370481.9 | protein_coding | 8/11 | chr1 | 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 | ||
GNRH2_chr20_3038622_3050747 | 3045699 | A | AGCCCC | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(98): Show |
a0000 | a0000c0002 | a0000c0002t0001a0000c0002t0002 | a0000c0002t0001g0002a0000c0002t0001g0005a0000c0002t0002g0002others(1): Show | 101 | 446 | 0.2265 | 5 | c.319 others(12): Show |
p.Ser others(5): Show |
GNRH2 | ENSG00000125787.11 | transcript | ENST00000359100.6 | protein_coding | 4/4 | 375/404 | 324/342 | 108/113 | INFO_REALIGN_3_PRIME | chr20 | 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 | ||
GP6_chr19_55008705_55043264 | 55014735 | G | GCAGA | frameshift_variant | HIGH | HG00423.hp2 HG00438.hp2 HG00621.hp1 others(55): Show |
a0003a0019 | a0003c0003a0003c0016a0003c0019others(1): Show | a0003c0003t0003a0003c0016t0003a0003c0019t0003others(1): Show | a0003c0003t0003g0003a0003c0003t0003g0004a0003c0003t0003g0019others(53): Show | 58 | 441 | 0.1315 | 4 | c.120 others(13): Show |
p.Pro others(5): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 8/8 | 1237/2268 | 1209/1863 | 403/620 | chr19 | 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 | ||
GSDMB_chr17_39899595_39923635 | 39908216 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(122): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004a0002c0002t0005 | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0014others(47): Show | 125 | 400 | 0.3125 | 0 | c.662 others(5): Show |
GSDMB | ENSG00000073605.19 | transcript | ENST00000418519.6 | protein_coding | 5/10 | chr17 | TogoVar | ||||||
H2BW1_chrX_104006147_104018708 | 104013216 | G | GC | frameshift_variant | HIGH | NA19054.hp1 | a0007 | a0007c0007 | a0007c0007t0010 | a0007c0007t0010g0024 | 1 | 330 | 0.0030 | 1 | c.360 others(4): Show |
p.Gln others(5): Show |
H2BW1 | ENSG00000123569.10 | transcript | ENST00000217926.7 | protein_coding | 1/3 | 492/915 | 360/444 | 120/147 | chrX | TogoVar | ||
H2BW1_chrX_104006147_104018708 | 104013425 | T | TC | frameshift_variant | HIGH | NA19054.hp1 | a0007 | a0007c0007 | a0007c0007t0010 | a0007c0007t0010g0024 | 1 | 330 | 0.0030 | 1 | c.151 others(4): Show |
p.Asp others(4): Show |
H2BW1 | ENSG00000123569.10 | transcript | ENST00000217926.7 | protein_coding | 1/3 | 283/915 | 151/444 | 51/147 | chrX | 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 | a0003c0003t0002g0014a0003c0003t0002g0015a0003c0003t0002g0021others(102): Show | 106 | 360 | 0.2944 | 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 | ||
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 | ||
IGSF1_chrX_131268506_131294306 | 131281802 | GA | G | frameshift_variant | HIGH | NA19054.hp1 | a0006 | a0006c0028 | a0006c0028t0001 | a0006c0028t0001g0057 | 1 | 328 | 0.0031 | -1 | c.138 others(5): Show |
p.Phe others(5): Show |
IGSF1 | ENSG00000147255.19 | transcript | ENST00000361420.8 | protein_coding | 8/20 | 1548/4461 | 1388/4011 | 463/1336 | chrX | TogoVar | ||
IGSF1_chrX_131268506_131294306 | 131281845 | TC | T | frameshift_variant | HIGH | NA19054.hp1 | a0006 | a0006c0028 | a0006c0028t0001 | a0006c0028t0001g0057 | 1 | 328 | 0.0031 | -1 | c.134 others(5): Show |
p.Glu others(5): Show |
IGSF1 | ENSG00000147255.19 | transcript | ENST00000361420.8 | protein_coding | 8/20 | 1505/4461 | 1345/4011 | 449/1336 | chrX | TogoVar | ||
IGSF1_chrX_131268506_131294306 | 131281912 | GC | G | frameshift_variant | HIGH | NA19054.hp1 | a0006 | a0006c0028 | a0006c0028t0001 | a0006c0028t0001g0057 | 1 | 328 | 0.0031 | -1 | c.127 others(5): Show |
p.Trp others(5): Show |
IGSF1 | ENSG00000147255.19 | transcript | ENST00000361420.8 | protein_coding | 8/20 | 1438/4461 | 1278/4011 | 426/1336 | chrX | TogoVar | ||
IGSF1_chrX_131268506_131294306 | 131282547 | AT | A | frameshift_variant | HIGH | NA19054.hp1 | a0006 | a0006c0028 | a0006c0028t0001 | a0006c0028t0001g0057 | 1 | 328 | 0.0031 | -1 | c.114 others(5): Show |
p.Asn others(5): Show |
IGSF1 | ENSG00000147255.19 | transcript | ENST00000361420.8 | protein_coding | 7/20 | 1302/4461 | 1142/4011 | 381/1336 | chrX | TogoVar | ||
IL17RB_chr3_53841568_53870794 | 53865249 | C | T | stop_gained | HIGH | HG00099.hp2 HG00280.hp1 HG00438.hp1 others(51): Show |
a0002 | a0002c0005a0002c0007 | a0002c0005t0001a0002c0007t0001a0002c0007t0006others(1): Show | a0002c0005t0001g0006a0002c0005t0001g0027a0002c0005t0001g0028others(33): Show | 54 | 450 | 0.1200 | 0 | c.145 others(4): Show |
p.Gln others(4): Show |
IL17RB | ENSG00000056736.10 | transcript | ENST00000288167.8 | protein_coding | 11/11 | 1471/2016 | 1450/1509 | 484/502 | chr3 | 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 | a0003c0004t0001g0001a0003c0004t0001g0009a0004c0005t0001g0001others(4): Show | 33 | 390 | 0.0846 | 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 | |
JAK3_chr19_17819782_17852982 | 17830179 | C | CG | frameshift_variant | HIGH | HG00544.hp2 HG01192.hp2 HG01934.hp1 others(6): Show |
a0002a0006 | a0002c0002a0002c0018a0006c0012 | a0002c0002t0001a0002c0002t0002a0002c0002t0005others(4): Show | a0002c0002t0001g0079a0002c0002t0001g0097a0002c0002t0002g0185others(6): Show | 9 | 414 | 0.0217 | 1 | c.313 others(5): Show |
p.Ala others(6): Show |
JAK3 | ENSG00000105639.21 | transcript | ENST00000458235.7 | protein_coding | 23/24 | 3185/5386 | 3135/3375 | 1045/1124 | chr19 | TogoVar | ||
KRTAP1-1_chr17_41035541_41046450 | 41041247 | G | A | stop_gained | HIGH | HG00558.hp1 HG00558.hp2 HG00597.hp2 others(75): Show |
a0002 | a0002c0002a0002c0006a0002c0014 | a0002c0002t0001a0002c0006t0001a0002c0014t0001 | a0002c0002t0001g0000a0002c0006t0001g0000a0002c0014t0001g0000 | 78 | 403 | 0.1936 | 0 | c.151 others(3): Show |
p.Gln others(3): Show |
KRTAP1-1 | ENSG00000188581.9 | transcript | ENST00000306271.5 | protein_coding | 1/1 | 204/910 | 151/534 | 51/177 | chr17 | TogoVar | ||
KRTAP10-6_chr21_44586268_44597505 | 44591702 | G | T | stop_gained | HIGH | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(113): Show |
a0002a0006a0012others(13): Show | a0002c0002a0002c0005a0002c0025others(20): Show | a0002c0002t0002a0002c0005t0002a0002c0025t0002others(22): Show | a0002c0002t0002g0000a0002c0005t0002g0000a0002c0025t0002g0000others(22): Show | 116 | 428 | 0.2710 | 0 | c.783 others(3): Show |
p.Cys others(4): Show |
KRTAP10-6 | ENSG00000188155.11 | transcript | ENST00000400368.1 | protein_coding | 1/1 | 804/1238 | 783/1098 | 261/365 | chr21 | 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 | ||
KRTAP19-6_chr21_30536535_30546864 | 30541662 | AG | A | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(301): Show |
a0000 | a0000c0001a0000c0003a0000c0004others(2): Show | a0000c0001t0001a0000c0003t0001a0000c0004t0001others(2): Show | a0000c0001t0001g0000a0000c0003t0001g0000a0000c0004t0001g0000others(2): Show | 304 | 394 | 0.7716 | -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(144): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0001a0001c0002t0005a0001c0002t0013others(2): Show | a0001c0002t0001g0000a0001c0002t0005g0000a0001c0002t0013g0000others(2): Show | 147 | 411 | 0.3577 | 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(233): Show |
a0001a0003a0007others(5): Show | a0001c0001a0003c0003a0003c0010others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(12): Show | a0001c0001t0001g0000a0001c0001t0005g0000a0001c0001t0012g0000others(12): Show | 236 | 416 | 0.5673 | 1 | c.1du others(2): Show |
p.Met others(3): Show |
KRTAP4-8 | ENSG00000204880.9 | transcript | ENST00000333822.5 | protein_coding | 1/1 | 59/1162 | 1/558 | 1/185 | chr17 | TogoVar | ||
KRTAP9-6_chr17_41260378_41270860 | 41265460 | TTGTGACC others(5393): Show |
T | frameshift_variant others(2): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(138): Show |
a0000 | a0000c0001 | a0000c0001t0000 | a0000c0001t0000g0000 | 141 | 248 | 0.5686 | -5400 | c.84_ others(8): Show |
p.Ile others(4): Show |
KRTAP9-6 | ENSG00000212659.2 | transcript | ENST00000391355.2 | protein_coding | 1/1 | 84/483 | 84/483 | 28/160 | chr17 | TogoVar | ||
LILRA6_chr19_54231590_54247790 | 54240484 | G | A | stop_gained | HIGH | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(189): Show |
a0002a0003a0004others(34): Show | a0002c0002a0002c0027a0002c0028others(40): Show | a0002c0002t0003a0002c0002t0004a0002c0002t0007others(71): Show | a0002c0002t0003g0002a0002c0002t0003g0043a0002c0002t0003g0140others(97): Show | 192 | 450 | 0.4267 | 0 | c.104 others(4): Show |
p.Gln others(4): Show |
LILRA6 | ENSG00000244482.11 | transcript | ENST00000396365.7 | protein_coding | 6/8 | 1087/3848 | 1048/1446 | 350/481 | chr19 | TogoVar | ||
LILRB3_chr19_54211278_54228007 | 54220736 | A | C | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(309): Show |
a0001a0003a0004others(39): Show | a0001c0001a0003c0002a0004c0005others(43): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(65): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0079others(100): Show | 312 | 455 | 0.6857 | 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 |