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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | |
DHDH_chr19_48928699_48949969 | 48944491 | GGA | G | frameshift_variant | HIGH | HG00140.hp1 HG00642.hp1 HG01106.hp2 others(17): Show |
a0002a0006 | a0002c0005a0006c0021 | a0002c0005t0001a0006c0021t0001 | a0002c0005t0001g0002a0002c0005t0001g0007a0002c0005t0001g0015others(10): Show | 20 | 436 | 0.0459 | -2 | c.881 others(9): Show |
p.Glu others(5): Show |
DHDH | ENSG00000104808.8 | transcript | ENST00000221403.7 | protein_coding | 6/7 | 904/1064 | 881/1005 | 294/334 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
DSP_chr6_7536671_7591714 | 7541915 | C | CA | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(109): Show |
a0001a0002a0003others(12): Show | a0001c0007a0001c0011a0001c0014others(22): Show | a0001c0007t0001a0001c0011t0001a0001c0014t0001others(24): Show | a0001c0007t0001g0046a0001c0007t0001g0049a0001c0007t0001g0162others(104): Show | 112 | 396 | 0.2828 | 1 | c.1du others(2): Show |
p.Met others(3): Show |
DSP | ENSG00000096696.16 | transcript | ENST00000379802.8 | protein_coding | 1/24 | 247/9697 | 2/8616 | 1/2871 | INFO_REALIGN_3_PRIME | chr6 | 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 | |
EFHC2_chrX_44142872_44348672 | 44235413 | C | CA | frameshift_variant | HIGH | NA19067.hp1 | a0012 | a0012c0016 | a0012c0016t0003 | a0012c0016t0003g0182 | 1 | 221 | 0.0045 | 1 | c.131 others(5): Show |
p.Ala others(5): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 9/15 | 1398/3257 | 1314/2250 | 438/749 | chrX | TogoVar | ||
EML3_chr11_62597218_62617775 | 62602887 | C | CGCCTAGC others(16): Show |
frameshift_variant others(2): Show |
HIGH | NA19067.hp1 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0053 | 1 | 312 | 0.0032 | 23 | c.235 others(35): Show |
p.Val others(5): Show |
EML3 | ENSG00000149499.12 | transcript | ENST00000394773.7 | protein_coding | 21/22 | 2676/3266 | 2358/2691 | 786/896 | chr11 | TogoVar | ||
ENTR1_chr9_136396922_136415614 | 136410362 | C | CG | frameshift_variant | HIGH | HG00558.hp1 HG01496.hp2 HG01952.hp1 others(13): Show |
a0003 | a0003c0005a0003c0007a0003c0008others(3): Show | a0003c0005t0001a0003c0005t0016a0003c0007t0002others(4): Show | a0003c0005t0001g0081a0003c0005t0001g0082a0003c0005t0001g0083others(12): Show | 16 | 412 | 0.0388 | 1 | c.35d others(3): Show |
p.Leu others(4): Show |
ENTR1 | ENSG00000165689.17 | transcript | ENST00000357365.8 | protein_coding | 1/10 | 252/2391 | 35/1308 | 12/435 | chr9 | TogoVar | ||
ESX1_chrX_104245038_104259933 | 104254261 | T | TG | frameshift_variant | HIGH | NA19067.hp1 | a0035 | a0035c0038 | a0035c0038t0001 | a0035c0038t0001g0077 | 1 | 313 | 0.0032 | 1 | c.398 others(4): Show |
p.Gln others(5): Show |
ESX1 | ENSG00000123576.5 | transcript | ENST00000372588.4 | protein_coding | 2/4 | 482/1495 | 398/1221 | 133/406 | chrX | TogoVar | ||
ESX1_chrX_104245038_104259933 | 104254299 | GC | G | frameshift_variant | HIGH | NA19067.hp1 | a0035 | a0035c0038 | a0035c0038t0001 | a0035c0038t0001g0077 | 1 | 313 | 0.0032 | -1 | c.360 others(4): Show |
p.Pro others(5): Show |
ESX1 | ENSG00000123576.5 | transcript | ENST00000372588.4 | protein_coding | 2/4 | 444/1495 | 360/1221 | 120/406 | chrX | TogoVar | ||
ESX1_chrX_104245038_104259933 | 104254371 | G | GT | frameshift_variant | HIGH | NA19067.hp1 | a0035 | a0035c0038 | a0035c0038t0001 | a0035c0038t0001g0077 | 1 | 313 | 0.0032 | 1 | c.288 others(4): Show |
p.Gln others(4): Show |
ESX1 | ENSG00000123576.5 | transcript | ENST00000372588.4 | protein_coding | 2/4 | 372/1495 | 288/1221 | 96/406 | chrX | TogoVar | ||
ESX1_chrX_104245038_104259933 | 104254442 | T | TC | frameshift_variant | HIGH | NA19067.hp1 | a0035 | a0035c0038 | a0035c0038t0001 | a0035c0038t0001g0077 | 1 | 313 | 0.0032 | 1 | c.217 others(4): Show |
p.Asp others(4): Show |
ESX1 | ENSG00000123576.5 | transcript | ENST00000372588.4 | protein_coding | 2/4 | 301/1495 | 217/1221 | 73/406 | chrX | TogoVar | ||
FAM110C_chr2_33814_51505 | 46307 | C | CG | frameshift_variant | HIGH | NA18947.hp2 NA18976.hp2 NA18978.hp1 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002a0003c0003t0003 | a0003c0003t0001g0017a0003c0003t0002g0033a0003c0003t0003g0018 | 7 | 442 | 0.0158 | 1 | c.78d others(3): Show |
p.Asp others(4): Show |
FAM110C | ENSG00000184731.6 | transcript | ENST00000327669.5 | protein_coding | 1/2 | 198/3880 | 78/966 | 26/321 | chr2 | 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 | 34130379 | TG | T | frameshift_variant | HIGH | NA19067.hp1 | a0017 | a0017c0020 | a0017c0020t0001 | a0017c0020t0001g0000 | 1 | 324 | 0.0031 | -1 | c.189 others(5): Show |
p.Lys others(5): Show |
FAM47A | ENSG00000185448.12 | transcript | ENST00000346193.5 | protein_coding | 1/1 | 1935/2563 | 1899/2376 | 633/791 | chrX | TogoVar | ||
FAM47A_chrX_34124752_34137314 | 34130962 | CT | C | frameshift_variant | HIGH | NA19067.hp1 | a0017 | a0017c0020 | a0017c0020t0001 | a0017c0020t0001g0000 | 1 | 324 | 0.0031 | -1 | c.131 others(5): Show |
p.Lys others(5): Show |
FAM47A | ENSG00000185448.12 | transcript | ENST00000346193.5 | protein_coding | 1/1 | 1352/2563 | 1316/2376 | 439/791 | chrX | TogoVar | ||
FAM47A_chrX_34124752_34137314 | 34131056 | A | AC | frameshift_variant | HIGH | NA19067.hp1 | a0017 | a0017c0020 | a0017c0020t0001 | a0017c0020t0001g0000 | 1 | 324 | 0.0031 | 1 | c.122 others(5): Show |
p.Val others(5): Show |
FAM47A | ENSG00000185448.12 | transcript | ENST00000346193.5 | protein_coding | 1/1 | 1258/2563 | 1222/2376 | 408/791 | chrX | TogoVar | ||
FAM47A_chrX_34124752_34137314 | 34131061 | AG | A | frameshift_variant | HIGH | NA19067.hp1 | a0017 | a0017c0020 | a0017c0020t0001 | a0017c0020t0001g0000 | 1 | 324 | 0.0031 | -1 | c.121 others(5): Show |
p.Thr others(5): Show |
FAM47A | ENSG00000185448.12 | transcript | ENST00000346193.5 | protein_coding | 1/1 | 1253/2563 | 1217/2376 | 406/791 | chrX | TogoVar | ||
FAM47A_chrX_34124752_34137314 | 34131622 | C | CG | frameshift_variant | HIGH | NA19067.hp1 | a0017 | a0017c0020 | a0017c0020t0001 | a0017c0020t0001g0000 | 1 | 324 | 0.0031 | 1 | c.656 others(4): Show |
p.Val others(5): Show |
FAM47A | ENSG00000185448.12 | transcript | ENST00000346193.5 | protein_coding | 1/1 | 692/2563 | 656/2376 | 219/791 | chrX | TogoVar | ||
FAM47A_chrX_34124752_34137314 | 34131797 | TC | T | frameshift_variant | HIGH | NA19067.hp1 | a0017 | a0017c0020 | a0017c0020t0001 | a0017c0020t0001g0000 | 1 | 324 | 0.0031 | -1 | c.481 others(4): Show |
p.Asp others(5): Show |
FAM47A | ENSG00000185448.12 | transcript | ENST00000346193.5 | protein_coding | 1/1 | 517/2563 | 481/2376 | 161/791 | chrX | TogoVar | ||
FAM47A_chrX_34124752_34137314 | 34131974 | G | GC | frameshift_variant | HIGH | NA19067.hp1 | a0017 | a0017c0020 | a0017c0020t0001 | a0017c0020t0001g0000 | 1 | 324 | 0.0031 | 1 | c.304 others(4): Show |
p.Ala others(5): Show |
FAM47A | ENSG00000185448.12 | transcript | ENST00000346193.5 | protein_coding | 1/1 | 340/2563 | 304/2376 | 102/791 | chrX | TogoVar | ||
FAM47E_chr4_76246721_76288783 | 76263844 | G | C | splice_donor_variant others(1): Show |
HIGH | NA18957.hp2 NA19063.hp2 NA19067.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0035a0002c0002t0001g0074a0002c0002t0001g0140 | 4 | 392 | 0.0102 | 0 | c.560 others(5): Show |
FAM47E | ENSG00000189157.14 | transcript | ENST00000424749.7 | protein_coding | 3/7 | chr4 | TogoVar | ||||||
FAM90A9_chr8_7756330_7769340 | 7762715 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(60): Show |
a0001a0003a0004others(18): Show | a0001c0001a0001c0018a0003c0003others(19): Show | a0001c0001t0000a0001c0018t0000a0003c0003t0000others(19): Show | a0001c0001t0000g0001a0001c0001t0000g0003a0001c0001t0000g0013others(35): Show | 63 | 92 | 0.6848 | 0 | c.432 others(5): Show |
FAM90A9 | ENSG00000285607.1 | transcript | ENST00000648344.1 | protein_coding | 3/3 | chr8 | TogoVar | ||||||
FANCM_chr14_45130930_45205890 | 45159080 | TTA | T | splice_acceptor_variant others(2): Show |
HIGH | HG00280.hp1 HG00323.hp1 HG00558.hp1 others(40): Show |
a0003a0005a0011others(2): Show | a0003c0002a0005c0004a0011c0014others(2): Show | a0003c0002t0001a0005c0004t0001a0011c0014t0001others(2): Show | a0003c0002t0001g0002a0003c0002t0001g0174a0003c0002t0001g0175others(37): Show | 43 | 238 | 0.1807 | -2 | c.139 others(15): Show |
FANCM | ENSG00000187790.12 | transcript | ENST00000267430.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FANCM_chr14_45130930_45205890 | 45185207 | TCTTA | T | splice_acceptor_variant others(2): Show |
HIGH | HG00280.hp1 HG00323.hp1 HG00558.hp1 others(111): Show |
a0002a0003a0004others(16): Show | a0002c0003a0002c0006a0002c0007others(22): Show | a0002c0003t0001a0002c0003t0002a0002c0006t0002others(24): Show | a0002c0003t0001g0167a0002c0003t0001g0169a0002c0003t0001g0170others(107): Show | 114 | 238 | 0.4790 | -4 | c.451 others(17): Show |
FANCM | ENSG00000187790.12 | transcript | ENST00000267430.10 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FBRSL1_chr12_132485151_132590188 | 132583017 | A | AC | frameshift_variant | HIGH | HG00438.hp2 HG01261.hp2 HG01361.hp2 others(7): Show |
a0000a0005a0013others(3): Show | a0000c0042a0000c0057a0000c0058others(6): Show | a0000c0042t0001a0000c0057t0011a0000c0058t0009others(7): Show | a0000c0042t0001g0219a0000c0057t0011g0066a0000c0058t0009g0110others(7): Show | 10 | 348 | 0.0287 | 1 | c.225 others(5): Show |
p.Ala others(5): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 19/19 | 2674/4839 | 2254/3009 | 752/1002 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
FBRSL1_chr12_132485151_132590188 | 132583374 | G | GC | frameshift_variant | HIGH | HG00423.hp1 HG00438.hp2 HG01109.hp2 others(30): Show |
a0000a0005a0010others(6): Show | a0000c0014a0000c0019a0000c0022others(17): Show | a0000c0014t0001a0000c0014t0003a0000c0014t0033others(24): Show | a0000c0014t0001g0148a0000c0014t0001g0208a0000c0014t0003g0191others(30): Show | 33 | 348 | 0.0948 | 1 | c.261 others(5): Show |
p.Ala others(5): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 19/19 | 3031/4839 | 2611/3009 | 871/1002 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
FBRSL1_chr12_132485151_132590188 | 132583509 | G | GC | frameshift_variant | HIGH | HG00408.hp2 HG00597.hp2 HG00642.hp1 others(41): Show |
a0000a0005a0010others(5): Show | a0000c0009a0000c0015a0000c0020others(20): Show | a0000c0009t0001a0000c0009t0003a0000c0009t0008others(31): Show | a0000c0009t0001g0161a0000c0009t0001g0224a0000c0009t0001g0227others(41): Show | 44 | 348 | 0.1264 | 1 | c.274 others(5): Show |
p.Ala others(5): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 19/19 | 3166/4839 | 2746/3009 | 916/1002 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
FOXP3_chrX_49245438_49269710 | 49257717 | G | GGC | frameshift_variant | HIGH | NA19067.hp1 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0092 | 1 | 299 | 0.0033 | 2 | c.260 others(9): Show |
p.Pro others(4): Show |
FOXP3 | ENSG00000049768.18 | transcript | ENST00000376207.10 | protein_coding | 3/12 | 333/2264 | 261/1296 | 87/431 | chrX | 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 | ||
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 | ||
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 | ||||||
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 | ||
GOLGA6L26_chr15_23319535_23339196 | 23326937 | G | A | stop_gained others(1): Show |
HIGH | NA19067.hp1 | a0053 | a0053c0058 | a0053c0058t0005 | a0053c0058t0005g0117 | 1 | 182 | 0.0055 | 0 | c.192 others(4): Show |
p.Gln others(4): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 8/9 | 1985/3731 | 1924/1950 | 642/649 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(430): Show |
frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(213): Show |
a0001a0003a0004others(13): Show | a0001c0001a0001c0018a0001c0029others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(50): Show | 216 | 396 | 0.5455 | 437 | c.239 others(446): Show |
p.Gly others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440318 | T | TCCCGCAT others(208): Show |
frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(284): Show |
a0000a0001a0003others(22): Show | a0000c0051a0001c0001a0001c0003others(52): Show | a0000c0051t0001a0001c0001t0001a0001c0001t0003others(65): Show | a0000c0051t0001g0067a0001c0001t0001g0001a0001c0001t0001g0002others(92): Show | 287 | 396 | 0.7248 | 215 | c.215 others(224): Show |
p.Ser others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2218/3499 | 2156/2730 | 719/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440394 | CT | C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(388): Show |
a0000a0001a0002others(27): Show | a0000c0002a0000c0004a0000c0010others(74): Show | a0000c0002t0002a0000c0002t0005a0000c0002t0011others(95): Show | a0000c0002t0002g0003a0000c0002t0002g0005a0000c0002t0002g0040others(132): Show | 391 | 396 | 0.9874 | -1 | c.208 others(5): Show |
p.Arg others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2142/3499 | 2080/2730 | 694/909 | chr15 | TogoVar | ||
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 | ||
GPC3_chrX_133530745_133990594 | 133985334 | CG | C | frameshift_variant | HIGH | NA19067.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0151 | 1 | 152 | 0.0066 | -1 | c.115 others(4): Show |
p.Arg others(4): Show |
GPC3 | ENSG00000147257.16 | transcript | ENST00000370818.8 | protein_coding | 1/8 | 260/2267 | 115/1743 | 39/580 | chrX | TogoVar | ||
GPC3_chrX_133530745_133990594 | 133985387 | CG | C | frameshift_variant | HIGH | NA19067.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0151 | 1 | 152 | 0.0066 | -1 | c.62d others(3): Show |
p.Pro others(4): Show |
GPC3 | ENSG00000147257.16 | transcript | ENST00000370818.8 | protein_coding | 1/8 | 207/2267 | 62/1743 | 21/580 | chrX | 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 | ||
GRIN3B_chr19_995419_1014732 | 1004897 | G | GCGTT | frameshift_variant | HIGH | HG00642.hp2 HG00741.hp2 HG01069.hp1 others(55): Show |
a0003a0010a0023others(6): Show | a0003c0005a0003c0025a0003c0026others(21): Show | a0003c0005t0002a0003c0025t0002a0003c0026t0002others(21): Show | a0003c0005t0002g0006a0003c0005t0002g0017a0003c0005t0002g0047others(35): Show | 58 | 446 | 0.1300 | 4 | c.139 others(13): Show |
p.Gly others(5): Show |
GRIN3B | ENSG00000116032.5 | transcript | ENST00000234389.3 | protein_coding | 3/9 | 1416/3281 | 1397/3132 | 466/1043 | chr19 | 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 | ||||||
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 | ||||||
HECTD4_chr12_112155195_112387431 | 112185241 | G | GC | frameshift_variant | HIGH | HG01175.hp1 HG01433.hp1 HG01934.hp1 others(19): Show |
a0002a0008 | a0002c0004a0002c0005a0002c0006others(2): Show | a0002c0004t0001a0002c0004t0003a0002c0004t0004others(6): Show | a0002c0004t0001g0155a0002c0004t0003g0008a0002c0004t0003g0015others(19): Show | 22 | 270 | 0.0815 | 1 | c.972 others(5): Show |
p.Ala others(6): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 61/76 | 10027/15752 | 9724/13257 | 3242/4418 | chr12 | TogoVar | ||
HEPH_chrX_66159247_66272389 | 66256327 | C | CT | frameshift_variant others(1): Show |
HIGH | NA19067.hp1 | a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0104 | 1 | 218 | 0.0046 | 1 | c.289 others(10): Show |
p.His others(5): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 17/21 | 3131/4431 | 2894/3477 | 965/1158 | chrX | TogoVar | ||
HLA-B_chr6_31348875_31362179 | 31356366 | G | T | stop_gained | HIGH | HG00438.hp2 HG00621.hp2 HG01074.hp1 others(44): Show |
a0014a0018a0024others(7): Show | a0014c0014a0018c0016a0024c0023others(7): Show | a0014c0014t0010a0014c0014t0036a0018c0016t0006others(9): Show | a0014c0014t0010g0020a0014c0014t0010g0063a0014c0014t0036g0110others(13): Show | 47 | 468 | 0.1004 | 0 | c.420 others(3): Show |
p.Tyr others(4): Show |
HLA-B | ENSG00000234745.14 | transcript | ENST00000412585.7 | protein_coding | 3/8 | 441/1536 | 420/1089 | 140/362 | chr6 | 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 | ||
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 | ||||||
HSP90B1_chr12_103925410_103952926 | 103942526 | G | A | splice_acceptor_variant others(1): Show |
HIGH | NA19067.hp1 | a0005 | a0005c0013 | a0005c0013t0001 | a0005c0013t0001g0139 | 1 | 458 | 0.0022 | 0 | c.137 others(6): Show |
HSP90B1 | ENSG00000166598.16 | transcript | ENST00000299767.10 | protein_coding | 11/17 | chr12 | TogoVar |