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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DDX51_chr12_132131594_132149319 | 132144070 | A | AC | frameshift_variant | HIGH | HG01255.hp1 HG01981.hp2 HG02809.hp1 others(3): Show |
a0006 | a0006c0011a0006c0014a0006c0023 | a0006c0011t0001a0006c0011t0031a0006c0014t0002others(2): Show | a0006c0011t0001g0021a0006c0011t0031g0038a0006c0014t0002g0037others(2): Show | 6 | 334 | 0.0180 | 1 | c.226 others(4): Show |
p.Val others(4): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1/15 | 249/4702 | 226/2001 | 76/666 | chr12 | TogoVar | ||
DEPP1_chr10_44971128_44983809 | 44977450 | C | CG | frameshift_variant | HIGH | HG00621.hp2 HG00642.hp1 HG00735.hp1 others(25): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0003t0002a0002c0003t0005others(3): Show | a0002c0003t0001g0009a0002c0003t0001g0012a0002c0003t0001g0022others(6): Show | 28 | 424 | 0.0660 | 1 | c.580 others(4): Show |
p.Arg others(5): Show |
DEPP1 | ENSG00000165507.9 | transcript | ENST00000298295.4 | protein_coding | 2/2 | 797/2120 | 580/639 | 194/212 | chr10 | TogoVar | ||
DFFA_chr1_10451522_10477529 | 10472433 | A | AC | frameshift_variant | HIGH | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(192): Show |
a0002 | a0002c0002a0002c0004a0002c0006others(5): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(57): Show | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0008others(124): Show | 195 | 438 | 0.4452 | 1 | c.25d others(3): Show |
p.Val others(3): Show |
DFFA | ENSG00000160049.12 | transcript | ENST00000377038.8 | protein_coding | 1/6 | 96/6035 | 25/996 | 9/331 | chr1 | 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 | |||||
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 | ||||
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 | ||
DZANK1_chr20_18378367_18472030 | 18412855 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(210): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0007a0001c0015others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0285a0001c0001t0001g0293a0001c0001t0001g0333others(196): Show | 213 | 374 | 0.5695 | 0 | c.130 others(6): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 12/20 | chr20 | 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 | |||||
ENDOU_chr12_47704734_47730490 | 47718186 | T | A | stop_gained | HIGH | NA18965.hp2 NA18966.hp2 NA18971.hp1 others(2): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0026a0003c0004t0001g0070a0003c0004t0001g0071 | 5 | 422 | 0.0119 | 0 | c.187 others(3): Show |
p.Lys others(3): Show |
ENDOU | ENSG00000111405.9 | transcript | ENST00000422538.8 | protein_coding | 3/10 | 264/2378 | 187/1233 | 63/410 | chr12 | TogoVar | ||
ENDOV_chr17_80410167_80443086 | 80422204 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp2 HG00438.hp1 HG00609.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0018a0001c0001t0001g0172a0001c0001t0001g0257others(15): Show | 35 | 420 | 0.0833 | 0 | c.364 others(5): Show |
ENDOV | ENSG00000173818.17 | transcript | ENST00000518137.6 | protein_coding | 3/9 | chr17 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 681605 | GTTTAAAT others(9044): Show |
G | exon_loss_variant | HIGH | NA18967.hp2 NA19083.hp2 |
a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0190a0005c0009t0001g0286 | 2 | 418 | 0.0048 | -9051 | c.536 others(15): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 11/16 | chr18 | TogoVar | ||||||
EXOG_chr3_38491340_38531303 | 38497743 | G | A | stop_gained | HIGH | NA19083.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0043 | 1 | 412 | 0.0024 | 0 | c.278 others(3): Show |
p.Trp others(3): Show |
EXOG | ENSG00000157036.13 | transcript | ENST00000287675.10 | protein_coding | 2/6 | 306/3076 | 278/1107 | 93/368 | chr3 | TogoVar | ||
EZHIP_chrX_51401948_51413843 | 51407227 | G | GC | frameshift_variant | HIGH | NA19083.hp1 | a0008 | a0008c0006 | a0008c0006t0001 | a0008c0006t0001g0000 | 1 | 295 | 0.0034 | 1 | c.213 others(4): Show |
p.Ala others(4): Show |
EZHIP | ENSG00000187690.4 | transcript | ENST00000342995.4 | protein_coding | 1/1 | 283/1896 | 214/1512 | 72/503 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
F8A2_chrX_155377095_155388801 | 155382633 | G | GC | frameshift_variant | HIGH | NA19083.hp1 | a0004 | a0004c0012 | a0004c0012t0005 | a0004c0012t0005g0000 | 1 | 267 | 0.0038 | 1 | c.523 others(4): Show |
p.Gln others(5): Show |
F8A2 | ENSG00000288709.1 | transcript | ENST00000369505.5 | protein_coding | 1/1 | 544/1707 | 524/1116 | 175/371 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
F8A2_chrX_155377095_155388801 | 155382659 | A | AG | frameshift_variant | HIGH | NA18975.hp1 NA19083.hp1 |
a0004a0012 | a0004c0012a0012c0004 | a0004c0012t0005a0012c0004t0001 | a0004c0012t0005g0000a0012c0004t0001g0000 | 2 | 267 | 0.0075 | 1 | c.547 others(4): Show |
p.Ala others(5): Show |
F8A2 | ENSG00000288709.1 | transcript | ENST00000369505.5 | protein_coding | 1/1 | 568/1707 | 548/1116 | 183/371 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
F8A2_chrX_155377095_155388801 | 155382671 | A | AG | frameshift_variant | HIGH | NA19083.hp1 | a0004 | a0004c0012 | a0004c0012t0005 | a0004c0012t0005g0000 | 1 | 267 | 0.0038 | 1 | c.559 others(4): Show |
p.Ala others(5): Show |
F8A2 | ENSG00000288709.1 | transcript | ENST00000369505.5 | protein_coding | 1/1 | 580/1707 | 560/1116 | 187/371 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
F8A2_chrX_155377095_155388801 | 155382789 | C | CCG | frameshift_variant | HIGH | NA19083.hp1 | a0004 | a0004c0012 | a0004c0012t0005 | a0004c0012t0005g0000 | 1 | 267 | 0.0038 | 2 | c.676 others(9): Show |
p.Pro others(5): Show |
F8A2 | ENSG00000288709.1 | transcript | ENST00000369505.5 | protein_coding | 1/1 | 697/1707 | 677/1116 | 226/371 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
F8A2_chrX_155377095_155388801 | 155382876 | C | CCT | frameshift_variant | HIGH | NA19083.hp1 | a0004 | a0004c0012 | a0004c0012t0005 | a0004c0012t0005g0000 | 1 | 267 | 0.0038 | 2 | c.762 others(9): Show |
p.Ser others(5): Show |
F8A2 | ENSG00000288709.1 | transcript | ENST00000369505.5 | protein_coding | 1/1 | 783/1707 | 763/1116 | 255/371 | chrX | TogoVar | ||
FAM166A_chr9_137238599_137252751 | 137245305 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(415): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0005others(22): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(68): Show | 418 | 418 | 1.0000 | 0 | c.522 others(5): Show |
FAM166A | ENSG00000188163.8 | transcript | ENST00000344774.6 | protein_coding | 3/6 | chr9 | TogoVar | ||||||
FAM47C_chrX_37003366_37016664 | 37011235 | A | AC | frameshift_variant | HIGH | NA19083.hp1 | a0016 | a0016c0017 | a0016c0017t0001 | a0016c0017t0001g0000 | 1 | 308 | 0.0033 | 1 | c.282 others(5): Show |
p.Leu others(5): Show |
FAM47C | ENSG00000198173.5 | transcript | ENST00000358047.5 | protein_coding | 1/1 | 2873/3299 | 2828/3108 | 943/1035 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
FAM50A_chrX_154439141_154455654 | 154446506 | G | GA | frameshift_variant | HIGH | NA19083.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0027 | 1 | 275 | 0.0036 | 1 | c.388 others(8): Show |
p.Gly others(5): Show |
FAM50A | ENSG00000071859.15 | transcript | ENST00000393600.8 | protein_coding | 4/13 | 484/1337 | 389/1020 | 130/339 | chrX | 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 | ||
FLNA_chrX_154343531_154379634 | 154348892 | T | TC | frameshift_variant | HIGH | NA19083.hp1 | a0000 | a0000c0033 | a0000c0033t0001 | a0000c0033t0001g0100 | 1 | 279 | 0.0036 | 1 | c.790 others(5): Show |
p.Asp others(6): Show |
FLNA | ENSG00000196924.19 | transcript | ENST00000369850.10 | protein_coding | 48/48 | 8145/8507 | 7900/7944 | 2634/2647 | chrX | TogoVar | ||
G6PD_chrX_154526391_154551846 | 154533004 | C | CG | frameshift_variant | HIGH | NA19083.hp1 | a0010 | a0010c0012 | a0010c0012t0001 | a0010c0012t0001g0068 | 1 | 285 | 0.0035 | 1 | c.988 others(4): Show |
p.Arg others(5): Show |
G6PD | ENSG00000160211.20 | transcript | ENST00000393562.10 | protein_coding | 9/13 | 1054/2223 | 988/1548 | 330/515 | chrX | TogoVar | ||
GAB3_chrX_154670249_154756077 | 154716265 | T | TC | frameshift_variant | HIGH | NA19083.hp1 | a0008 | a0008c0010 | a0008c0010t0003 | a0008c0010t0003g0190 | 1 | 257 | 0.0039 | 1 | c.136 others(4): Show |
p.Glu others(4): Show |
GAB3 | ENSG00000160219.12 | transcript | ENST00000424127.3 | protein_coding | 2/10 | 188/4745 | 136/1764 | 46/587 | 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 | ||
GATA1_chrX_48781590_48799311 | 48792204 | T | TC | frameshift_variant | HIGH | NA19083.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0027 | 1 | 268 | 0.0037 | 1 | c.586 others(4): Show |
p.Leu others(5): Show |
GATA1 | ENSG00000102145.16 | transcript | ENST00000376670.9 | protein_coding | 3/6 | 662/1464 | 587/1242 | 196/413 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
GATA1_chrX_48781590_48799311 | 48792214 | TC | T | frameshift_variant | HIGH | NA19083.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0027 | 1 | 268 | 0.0037 | -1 | c.594 others(4): Show |
p.Cys others(5): Show |
GATA1 | ENSG00000102145.16 | transcript | ENST00000376670.9 | protein_coding | 3/6 | 669/1464 | 594/1242 | 198/413 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
GATA1_chrX_48781590_48799311 | 48792424 | A | AT | frameshift_variant | HIGH | NA19083.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0027 | 1 | 268 | 0.0037 | 1 | c.701 others(4): Show |
p.Met others(5): Show |
GATA1 | ENSG00000102145.16 | transcript | ENST00000376670.9 | protein_coding | 4/6 | 777/1464 | 702/1242 | 234/413 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
GATA1_chrX_48781590_48799311 | 48792467 | TG | T | splice_donor_variant others(1): Show |
HIGH | NA19083.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0027 | 1 | 268 | 0.0037 | -1 | c.744 others(6): Show |
GATA1 | ENSG00000102145.16 | transcript | ENST00000376670.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | 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 | ||||||
GGT6_chr17_4551927_4565577 | 4560380 | A | T | splice_donor_variant others(1): Show |
HIGH | NA19083.hp1 | a0014 | a0014c0023 | a0014c0023t0004 | a0014c0023t0004g0053 | 1 | 458 | 0.0022 | 0 | c.140 others(5): Show |
GGT6 | ENSG00000167741.11 | transcript | ENST00000381550.8 | protein_coding | 1/3 | chr17 | TogoVar | ||||||
GGT6_chr17_4551927_4565577 | 4560381 | C | T | splice_donor_variant others(1): Show |
HIGH | NA19083.hp1 | a0014 | a0014c0023 | a0014c0023t0004 | a0014c0023t0004g0053 | 1 | 458 | 0.0022 | 0 | c.140 others(5): Show |
GGT6 | ENSG00000167741.11 | transcript | ENST00000381550.8 | protein_coding | 1/3 | chr17 | TogoVar | ||||||
GGT6_chr17_4551927_4565577 | 4560398 | G | GGAGATAG others(3): Show |
frameshift_variant | HIGH | NA19083.hp1 | a0014 | a0014c0023 | a0014c0023t0004 | a0014c0023t0004g0053 | 1 | 458 | 0.0022 | 10 | c.123 others(17): Show |
p.His others(4): Show |
GGT6 | ENSG00000167741.11 | transcript | ENST00000381550.8 | protein_coding | 1/4 | 179/2644 | 123/1500 | 41/499 | chr17 | TogoVar | ||
GMPR_chr6_16233587_16300549 | 16295116 | A | AACTC | frameshift_variant | HIGH | NA18945.hp2 NA18971.hp1 NA19075.hp1 others(2): Show |
a0000 | a0000c0005a0000c0011 | a0000c0005t0002a0000c0011t0002 | a0000c0005t0002g0153a0000c0005t0002g0158a0000c0005t0002g0182others(2): Show | 5 | 344 | 0.0145 | 4 | c.970 others(11): Show |
p.Lys others(5): Show |
GMPR | ENSG00000137198.10 | transcript | ENST00000259727.5 | protein_coding | 9/9 | 1081/1508 | 974/1038 | 325/345 | INFO_REALIGN_3_PRIME | chr6 | 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 | |
GOLGA6L6_chr15_20526856_20546800 | 20535014 | C | A | stop_gained | HIGH | HG00408.hp1 HG00609.hp1 HG00735.hp1 others(91): Show |
a0001a0006a0010others(13): Show | a0001c0001a0001c0005a0001c0019others(23): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(30): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0014others(49): Show | 94 | 214 | 0.4393 | 0 | c.142 others(4): Show |
p.Glu others(4): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 1511/4013 | 1420/2175 | 474/724 | 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 | ||
GPS2_chr17_7307661_7320360 | 7315329 | A | G | splice_donor_variant others(1): Show |
HIGH | HG00609.hp1 HG02040.hp1 HG02083.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0014 | 5 | 414 | 0.0121 | 0 | c.-68 others(5): Show |
GPS2 | ENSG00000132522.16 | transcript | ENST00000380728.7 | protein_coding | 1/10 | chr17 | 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 | ||||||
GZMM_chr19_539053_554922 | 549702 | GTCTGCAC others(36): Show |
G | frameshift_variant | HIGH | NA19083.hp2 | a0000 | a0000c0015 | a0000c0015t0001 | a0000c0015t0001g0230 | 1 | 398 | 0.0025 | -43 | c.686 others(50): Show |
p.Val others(5): Show |
GZMM | ENSG00000197540.8 | transcript | ENST00000264553.6 | protein_coding | 5/5 | 705/924 | 686/774 | 229/257 | chr19 | TogoVar | ||
H1-8_chr3_129538175_129556467 | 129547457 | A | AC | frameshift_variant | HIGH | HG01109.hp2 HG01175.hp2 HG01433.hp2 others(12): Show |
a0005a0007a0009 | a0005c0007a0005c0019a0005c0020others(3): Show | a0005c0007t0001a0005c0007t0003a0005c0019t0001others(4): Show | a0005c0007t0001g0001a0005c0007t0001g0002a0005c0007t0001g0004others(10): Show | 15 | 422 | 0.0356 | 1 | c.161 others(4): Show |
p.Val others(4): Show |
H1-8 | ENSG00000178804.8 | transcript | ENST00000324382.7 | protein_coding | 2/5 | 206/1212 | 162/1041 | 54/346 | INFO_REALIGN_3_PRIME | chr3 | 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-DRB1_chr6_32573775_32594848 | 32584364 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(128): Show |
a0002a0003a0005others(20): Show | a0002c0003a0003c0002a0005c0008others(21): Show | a0002c0003t0002a0003c0002t0005a0005c0008t0006others(22): Show | a0002c0003t0002g0008a0002c0003t0002g0020a0002c0003t0002g0021others(76): Show | 131 | 208 | 0.6298 | 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 | a0002c0003a0003c0002a0005c0008others(22): Show | a0002c0003t0002a0003c0002t0005a0005c0008t0006others(23): Show | a0002c0003t0002g0008a0002c0003t0002g0020a0002c0003t0002g0021others(77): Show | 136 | 208 | 0.6539 | 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 | ||
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(15513): Show |
frameshift_variant | HIGH | NA19083.hp2 | a0001 | a0001c0063 | a0001c0063t0001 | a0001c0063t0001g0142 | 1 | 418 | 0.0024 | 15520 | c.828 others(15529): 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 |