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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CTAG1A_chrX_154580133_154591816 | 154585230 | A | AG | frameshift_variant | HIGH | NA18985.hp1 NA19080.hp2 |
a0002 | a0002c0004a0002c0005 | a0002c0004t0001a0002c0005t0001 | a0002c0004t0001g0012a0002c0005t0001g0026 | 2 | 293 | 0.0068 | 1 | c.29d others(3): Show |
p.Ser others(4): Show |
CTAG1A | ENSG00000268651.4 | transcript | ENST00000599837.3 | protein_coding | 1/3 | 104/769 | 30/543 | 10/180 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CTAG1A_chrX_154580133_154591816 | 154585287 | A | AG | frameshift_variant | HIGH | NA18985.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0026 | 1 | 293 | 0.0034 | 1 | c.86d others(3): Show |
p.Asn others(4): Show |
CTAG1A | ENSG00000268651.4 | transcript | ENST00000599837.3 | protein_coding | 1/3 | 161/769 | 87/543 | 29/180 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CTAG1A_chrX_154580133_154591816 | 154585447 | A | AG | frameshift_variant | HIGH | HG03927.hp1 NA18985.hp1 |
a0002a0005 | a0002c0005a0005c0014 | a0002c0005t0001a0005c0014t0001 | a0002c0005t0001g0026a0005c0014t0001g0019 | 2 | 293 | 0.0068 | 1 | c.246 others(4): Show |
p.Pro others(4): Show |
CTAG1A | ENSG00000268651.4 | transcript | ENST00000599837.3 | protein_coding | 1/3 | 321/769 | 247/543 | 83/180 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CTAG1A_chrX_154580133_154591816 | 154586219 | G | GC | frameshift_variant | HIGH | NA18985.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0026 | 1 | 293 | 0.0034 | 1 | c.341 others(4): Show |
p.Pro others(5): Show |
CTAG1A | ENSG00000268651.4 | transcript | ENST00000599837.3 | protein_coding | 2/3 | 416/769 | 342/543 | 114/180 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CTAG1A_chrX_154580133_154591816 | 154586267 | T | TC | frameshift_variant | HIGH | NA18985.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0026 | 1 | 293 | 0.0034 | 1 | c.387 others(4): Show |
p.Gly others(5): Show |
CTAG1A | ENSG00000268651.4 | transcript | ENST00000599837.3 | protein_coding | 2/3 | 462/769 | 388/543 | 130/180 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CYLC2_chr9_102990333_103023488 | 103016962 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(409): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0005a0002c0002others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(65): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(317): Show | 412 | 448 | 0.9196 | 0 | c.*89 others(6): Show |
CYLC2 | ENSG00000155833.15 | transcript | ENST00000374798.8 | protein_coding | 7/7 | chr9 | TogoVar | ||||||
CYP2F1_chr19_41109432_41133381 | 41116202 | G | GC | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(111): Show |
a0002a0013 | a0002c0002a0002c0003a0002c0005others(11): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0011others(17): Show | a0002c0002t0001g0063a0002c0002t0002g0002a0002c0002t0002g0003others(101): Show | 114 | 374 | 0.3048 | 1 | c.15d others(3): Show |
p.Thr others(3): Show |
CYP2F1 | ENSG00000197446.9 | transcript | ENST00000331105.7 | protein_coding | 2/10 | 88/1847 | 16/1476 | 6/491 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
DCAF4L2_chr8_87865747_87879015 | 87873659 | G | A | stop_gained | HIGH | NA18975.hp1 NA18985.hp1 |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0003 | a0003c0004t0001g0000a0003c0004t0003g0000 | 2 | 430 | 0.0047 | 0 | c.313 others(3): Show |
p.Arg others(4): Show |
DCAF4L2 | ENSG00000176566.5 | transcript | ENST00000319675.5 | protein_coding | 1/1 | 357/3269 | 313/1188 | 105/395 | chr8 | TogoVar | ||
DDX56_chr7_44560804_44578908 | 44571668 | A | T | stop_gained | HIGH | NA18985.hp1 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0043 | 1 | 406 | 0.0025 | 0 | c.714 others(3): Show |
p.Cys others(4): Show |
DDX56 | ENSG00000136271.11 | transcript | ENST00000258772.10 | protein_coding | 6/14 | 727/1855 | 714/1644 | 238/547 | chr7 | 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(4): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(77): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0016a0001c0002t0001a0001c0002t0004others(31): Show | a0001c0001t0016g0286a0001c0002t0001g0027a0001c0002t0001g0043others(77): Show | 80 | 316 | 0.2532 | 11 | c.623 others(23): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DGKH_chr13_42043648_42247896 | 42159244 | C | CTTTTTTT others(22): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG04184.hp2 NA18947.hp2 NA18959.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0020 | a0001c0001t0003a0001c0001t0090a0001c0001t0091others(1): Show | a0001c0001t0003g0084a0001c0001t0003g0170a0001c0001t0090g0250others(2): Show | 5 | 316 | 0.0158 | 29 | c.623 others(40): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DHCR7_chr11_71429411_71453393 | 71444874 | C | CTTTGAGC others(15): Show |
frameshift_variant | HIGH | NA18985.hp1 | a0009 | a0009c0029 | a0009c0029t0001 | a0009c0029t0001g0055 | 1 | 410 | 0.0024 | 22 | c.78_ others(27): Show |
p.Gly others(4): Show |
DHCR7 | ENSG00000172893.18 | transcript | ENST00000355527.8 | protein_coding | 3/9 | 313/2627 | 78/1428 | 26/475 | chr11 | 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 | |
DHRS2_chr14_23631364_23650639 | 23644544 | G | A | splice_donor_variant others(1): Show |
HIGH | NA18985.hp2 | a0000 | a0000c0005 | a0000c0005t0002 | a0000c0005t0002g0038 | 1 | 446 | 0.0022 | 0 | c.675 others(5): Show |
DHRS2 | ENSG00000100867.15 | transcript | ENST00000250383.11 | protein_coding | 7/8 | chr14 | TogoVar | ||||||
DHRS2_chr14_23631364_23650639 | 23644847 | CTGGAAGA others(3): Show |
C | frameshift_variant | HIGH | NA18985.hp2 | a0000 | a0000c0005 | a0000c0005t0002 | a0000c0005t0002g0038 | 1 | 446 | 0.0022 | -10 | c.698 others(17): Show |
p.Trp others(5): Show |
DHRS2 | ENSG00000100867.15 | transcript | ENST00000250383.11 | protein_coding | 8/9 | 1145/1676 | 698/843 | 233/280 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |
DIDO1_chr20_62872743_62931505 | 62926430 | ACCGCAGG | A | splice_donor_variant others(2): Show |
HIGH | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(63): Show |
a0001a0002a0003others(3): Show | a0001c0009a0002c0002a0003c0003others(8): Show | a0001c0009t0001a0002c0002t0001a0003c0003t0001others(8): Show | a0001c0009t0001g0024a0002c0002t0001g0267a0003c0003t0001g0021others(55): Show | 66 | 320 | 0.2063 | -7 | c.-20 others(20): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 1/15 | chr20 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122581581 | CAGAAATG others(12696): Show |
C | exon_loss_variant | HIGH | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(37): Show |
a0003a0008a0011others(6): Show | a0003c0005a0003c0017a0003c0086others(10): Show | a0003c0005t0001a0003c0017t0001a0003c0086t0002others(12): Show | a0003c0005t0001g0091a0003c0005t0001g0092a0003c0005t0001g0094others(34): Show | 40 | 282 | 0.1418 | -12703 | c.142 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 15/56 | INFO_REALIGN_3_PRIME | chr10 | 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 | ||||
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 | |
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 | ||
E2F5_chr8_85172154_85219518 | 85203112 | T | A | stop_gained | HIGH | NA18985.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0152 | 1 | 336 | 0.0030 | 0 | c.363 others(3): Show |
p.Cys others(4): Show |
E2F5 | ENSG00000133740.11 | transcript | ENST00000416274.7 | protein_coding | 3/8 | 630/1964 | 363/1041 | 121/346 | chr8 | 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 | |
EFCAB13_chr17_47318955_47446312 | 47347921 | C | T | stop_gained | HIGH | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(25): Show |
a0005a0011 | a0005c0005a0011c0027 | a0005c0005t0001a0005c0005t0002a0005c0005t0003others(2): Show | a0005c0005t0001g0007a0005c0005t0001g0008a0005c0005t0001g0068others(25): Show | 28 | 356 | 0.0787 | 0 | c.631 others(3): Show |
p.Arg others(4): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 9/25 | 1068/3957 | 631/2922 | 211/973 | chr17 | TogoVar | ||
EPHA8_chr1_22558489_22608595 | 22601406 | C | CG | frameshift_variant | HIGH | HG00735.hp1 HG01099.hp2 HG02071.hp1 others(5): Show |
a0000 | a0000c0007a0000c0041a0000c0042 | a0000c0007t0001a0000c0007t0003a0000c0007t0010others(3): Show | a0000c0007t0001g0005a0000c0007t0001g0218a0000c0007t0001g0269others(5): Show | 8 | 342 | 0.0234 | 1 | c.283 others(5): Show |
p.Tyr others(5): Show |
EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 16/17 | 2986/5019 | 2839/3018 | 947/1005 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
F8_chrX_154830792_155027723 | 154906552 | A | AG | frameshift_variant | HIGH | NA18985.hp1 | a0009 | a0009c0013 | a0009c0013t0001 | a0009c0013t0001g0033 | 1 | 233 | 0.0043 | 1 | c.524 others(5): Show |
p.Gln others(6): Show |
F8 | ENSG00000185010.15 | transcript | ENST00000360256.9 | protein_coding | 15/26 | 5411/9032 | 5240/7056 | 1747/2351 | 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 | ||||||
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 | ||
FAM187B_chr19_35219800_35233739 | 35228117 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(123): Show |
a0002a0007 | a0002c0002a0002c0005a0002c0006others(3): Show | a0002c0002t0001a0002c0002t0002a0002c0005t0001others(4): Show | a0002c0002t0001g0002a0002c0002t0002g0018a0002c0005t0001g0006others(7): Show | 126 | 450 | 0.2800 | 0 | c.564 others(3): Show |
p.Trp others(4): Show |
FAM187B | ENSG00000177558.4 | transcript | ENST00000324675.4 | protein_coding | 1/2 | 623/1194 | 564/1110 | 188/369 | chr19 | 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 | ||||||
FAM9A_chrX_8785795_8806383 | 8795223 | TC | T | frameshift_variant | HIGH | NA18985.hp1 | a0010 | a0010c0013 | a0010c0013t0001 | a0010c0013t0001g0044 | 1 | 303 | 0.0033 | -1 | c.685 others(4): Show |
p.Glu others(5): Show |
FAM9A | ENSG00000183304.10 | transcript | ENST00000381003.7 | protein_coding | 7/10 | 796/1519 | 685/999 | 229/332 | chrX | TogoVar | ||
FAM9A_chrX_8785795_8806383 | 8795235 | TC | T | frameshift_variant | HIGH | NA18985.hp1 | a0010 | a0010c0013 | a0010c0013t0001 | a0010c0013t0001g0044 | 1 | 303 | 0.0033 | -1 | c.673 others(4): Show |
p.Glu others(5): Show |
FAM9A | ENSG00000183304.10 | transcript | ENST00000381003.7 | protein_coding | 7/10 | 784/1519 | 673/999 | 225/332 | chrX | TogoVar | ||
FGF22_chr19_634879_649373 | 643527 | A | AG | frameshift_variant | HIGH | HG00544.hp1 HG00597.hp1 HG00597.hp2 others(26): Show |
a0000 | a0000c0002 | a0000c0002t0001a0000c0002t0002a0000c0002t0004others(3): Show | a0000c0002t0001g0001a0000c0002t0001g0004a0000c0002t0001g0035others(15): Show | 29 | 434 | 0.0668 | 1 | c.444 others(4): Show |
p.Pro others(5): Show |
FGF22 | ENSG00000070388.12 | transcript | ENST00000215530.7 | protein_coding | 3/3 | 492/1329 | 445/513 | 149/170 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
FHL1_chrX_136142533_136216354 | 136207837 | G | GC | frameshift_variant | HIGH | NA18985.hp1 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0018 | 1 | 212 | 0.0047 | 1 | c.378 others(4): Show |
p.Phe others(5): Show |
FHL1 | ENSG00000022267.19 | transcript | ENST00000394155.8 | protein_coding | 5/8 | 575/2568 | 379/972 | 127/323 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
FHL1_chrX_136192047_136216354 | 136207837 | G | GC | frameshift_variant | HIGH | NA18985.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0037 | 1 | 296 | 0.0034 | 1 | c.426 others(4): Show |
p.Phe others(5): Show |
FHL1 | ENSG00000022267.19 | transcript | ENST00000370683.6 | protein_coding | 4/6 | 493/2286 | 427/891 | 143/296 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
FIG4_chr6_109686296_109830426 | 109732621 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(276): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(13): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0001others(20): Show | a0001c0001t0002g0015a0001c0001t0002g0017a0001c0001t0002g0122others(274): Show | 279 | 370 | 0.7541 | 1 | c.447 others(6): Show |
FIG4 | ENSG00000112367.12 | transcript | ENST00000230124.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr6 | 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 | |
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 | 116848 | T | TA | frameshift_variant | HIGH | HG01175.hp1 HG01891.hp2 HG02622.hp1 others(11): Show |
a0000a0005a0011others(2): Show | a0000c0028a0005c0010a0005c0023others(3): Show | a0000c0028t0001a0005c0010t0006a0005c0010t0020others(4): Show | a0000c0028t0001g0000a0005c0010t0006g0000a0005c0010t0020g0000others(4): Show | 14 | 452 | 0.0310 | 1 | c.127 others(5): Show |
p.Leu others(5): Show |
FOXD4 | ENSG00000170122.6 | transcript | ENST00000382500.4 | protein_coding | 1/1 | 1569/2187 | 1271/1320 | 424/439 | chr9 | TogoVar | ||
FRMPD3_chrX_107444652_107610251 | 107576370 | C | CG | frameshift_variant | HIGH | NA18985.hp1 | a0004 | a0004c0013 | a0004c0013t0024 | a0004c0013t0024g0002 | 1 | 183 | 0.0055 | 1 | c.135 others(5): Show |
p.Tyr others(5): Show |
FRMPD3 | ENSG00000147234.11 | transcript | ENST00000683843.1 | protein_coding | 13/15 | 1718/7573 | 1357/5334 | 453/1777 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
FRMPD3_chrX_107444652_107610251 | 107601955 | C | CG | frameshift_variant | HIGH | HG02145.hp1 HG03710.hp1 NA18965.hp1 others(2): Show |
a0003a0004a0008 | a0003c0007a0003c0010a0004c0013others(1): Show | a0003c0007t0001a0003c0007t0015a0003c0010t0002others(2): Show | a0003c0007t0001g0063a0003c0007t0015g0104a0003c0010t0002g0030others(2): Show | 5 | 183 | 0.0273 | 1 | c.392 others(5): Show |
p.Arg others(6): Show |
FRMPD3 | ENSG00000147234.11 | transcript | ENST00000683843.1 | protein_coding | 15/15 | 4285/7573 | 3924/5334 | 1308/1777 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
G6PD_chrX_154526391_154551846 | 154535983 | C | CG | frameshift_variant | HIGH | NA18940.hp1 NA18985.hp2 |
a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0070a0004c0007t0001g0106 | 2 | 285 | 0.0070 | 1 | c.220 others(4): Show |
p.Arg others(4): Show |
G6PD | ENSG00000160211.20 | transcript | ENST00000393562.10 | protein_coding | 4/13 | 286/2223 | 220/1548 | 74/515 | chrX | TogoVar | ||
GAGE1_chrX_49594020_49613538 | 49603666 | A | AG | frameshift_variant others(1): Show |
HIGH | NA18985.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0058 | 1 | 311 | 0.0032 | 1 | c.207 others(4): Show |
p.Pro others(4): Show |
GAGE1 | ENSG00000205777.19 | transcript | ENST00000381700.11 | protein_coding | 4/5 | 324/2993 | 208/354 | 70/117 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
GAL3ST3_chr11_66035765_66054161 | 66043477 | C | CG | frameshift_variant | HIGH | HG00621.hp1 HG00673.hp1 HG00673.hp2 others(19): Show |
a0003a0004a0006 | a0003c0005a0003c0015a0003c0016others(2): Show | a0003c0005t0001a0003c0005t0002a0003c0005t0005others(5): Show | a0003c0005t0001g0017a0003c0005t0001g0062a0003c0005t0002g0016others(11): Show | 22 | 394 | 0.0558 | 1 | c.325 others(4): Show |
p.Arg others(5): Show |
GAL3ST3 | ENSG00000175229.7 | transcript | ENST00000312006.5 | protein_coding | 3/3 | 588/3301 | 325/1296 | 109/431 | chr11 | TogoVar | ||
GJC2_chr1_228144930_228164826 | 228158838 | C | CG | frameshift_variant | HIGH | HG00408.hp1 HG00738.hp2 HG01261.hp1 others(5): Show |
a0000 | a0000c0003a0000c0011 | a0000c0003t0001a0000c0011t0002 | a0000c0003t0001g0001a0000c0003t0001g0002a0000c0003t0001g0003others(4): Show | 8 | 414 | 0.0193 | 1 | c.108 others(5): Show |
p.Ala others(5): Show |
GJC2 | ENSG00000198835.4 | transcript | ENST00000366714.3 | protein_coding | 2/2 | 1182/2165 | 1085/1320 | 362/439 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
GLB1L2_chr11_134326988_134381324 | 134356357 | T | A | stop_gained | HIGH | NA18985.hp1 NA18990.hp1 |
a0008a0011 | a0008c0035a0011c0021 | a0008c0035t0001a0011c0021t0002 | a0008c0035t0001g0279a0011c0021t0002g0267 | 2 | 414 | 0.0048 | 0 | c.615 others(3): Show |
p.Tyr others(4): Show |
GLB1L2 | ENSG00000149328.16 | transcript | ENST00000535456.7 | protein_coding | 6/19 | 689/3251 | 615/1911 | 205/636 | chr11 | TogoVar | ||
GMIP_chr19_19624476_19648657 | 19637409 | C | CG | frameshift_variant | HIGH | HG00609.hp1 HG01099.hp1 HG01978.hp1 others(18): Show |
a0002 | a0002c0002a0002c0008a0002c0009others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0008t0001others(3): Show | a0002c0002t0001g0016a0002c0002t0001g0020a0002c0002t0001g0062others(12): Show | 21 | 416 | 0.0505 | 1 | c.107 others(5): Show |
p.Pro others(5): Show |
GMIP | ENSG00000089639.11 | transcript | ENST00000203556.9 | protein_coding | 11/21 | 1207/3528 | 1079/2913 | 360/970 | chr19 | TogoVar |