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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CXorf49_chrX_71709371_71723285 | 71717989 | A | AC | frameshift_variant | HIGH | HG00735.hp1 | a0013 | a0013c0015 | a0013c0015t0001 | a0013c0015t0001g0022 | 1 | 73 | 0.0137 | 1 | c.162 others(4): Show |
p.Phe others(4): Show |
CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 296/1854 | 162/1545 | 54/514 | chrX | TogoVar | ||
CXorf49_chrX_71709371_71723285 | 71718024 | A | AC | frameshift_variant | HIGH | HG00558.hp2 HG00735.hp1 |
a0006a0013 | a0006c0006a0013c0015 | a0006c0006t0001a0013c0015t0001 | a0006c0006t0001g0009a0013c0015t0001g0022 | 2 | 73 | 0.0274 | 1 | c.127 others(4): Show |
p.Val others(4): Show |
CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 261/1854 | 127/1545 | 43/514 | chrX | TogoVar | ||
CXorf49_chrX_71709371_71723285 | 71718123 | C | CA | frameshift_variant | HIGH | HG00735.hp1 | a0013 | a0013c0015 | a0013c0015t0001 | a0013c0015t0001g0022 | 1 | 73 | 0.0137 | 1 | c.28d others(3): Show |
p.Cys others(4): Show |
CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 162/1854 | 28/1545 | 10/514 | 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 | ||||||
CYP2D6_chr22_42121499_42135810 | 42128945 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00323.hp1 HG00733.hp1 others(22): Show |
a0003a0005a0008 | a0003c0003a0005c0005a0008c0009 | a0003c0003t0001a0005c0005t0001a0008c0009t0001 | a0003c0003t0001g0015a0005c0005t0001g0004a0005c0005t0001g0076others(1): Show | 25 | 417 | 0.0600 | 0 | c.506 others(5): Show |
CYP2D6 | ENSG00000100197.23 | transcript | ENST00000645361.2 | protein_coding | 3/8 | chr22 | TogoVar | ||||||
CYP4B1_chr1_46794046_46824413 | 46815074 | GAT | G | frameshift_variant others(1): Show |
HIGH | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(66): Show |
a0003 | a0003c0003a0003c0018a0003c0019 | a0003c0003t0001a0003c0003t0003a0003c0018t0003others(1): Show | a0003c0003t0001g0009a0003c0003t0001g0035a0003c0003t0001g0103others(37): Show | 69 | 400 | 0.1725 | -2 | c.884 others(9): Show |
p.Asp others(5): Show |
CYP4B1 | ENSG00000142973.16 | transcript | ENST00000371923.9 | protein_coding | 8/12 | 920/2174 | 884/1539 | 295/512 | chr1 | TogoVar | ||
DCANP1_chr5_135439214_135452348 | 135446760 | T | A | stop_gained | HIGH | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(265): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0003a0001c0012others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000others(28): Show | 268 | 456 | 0.5877 | 0 | c.349 others(3): Show |
p.Arg others(4): Show |
DCANP1 | ENSG00000251380.3 | transcript | ENST00000503143.3 | protein_coding | 1/1 | 589/3135 | 349/735 | 117/244 | chr5 | TogoVar | ||
DDX10_chr11_108660069_108945927 | 108940243 | CAGTGATA others(3): Show |
C | frameshift_variant others(1): Show |
HIGH | HG00735.hp2 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0230 | 1 | 320 | 0.0031 | -10 | c.245 others(19): Show |
p.Ser others(5): Show |
DDX10 | ENSG00000178105.12 | transcript | ENST00000322536.8 | protein_coding | 18/18 | 2536/3217 | 2451/2628 | 817/875 | INFO_REALIGN_3_PRIME | chr11 | 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 | ||
DGKH_chr13_42043648_42247896 | 42159244 | C | CTTTTTTT others(2): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(66): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0015a0001c0001t0021others(40): Show | a0001c0001t0002g0052a0001c0001t0002g0083a0001c0001t0002g0139others(66): Show | 69 | 316 | 0.2184 | 9 | c.623 others(21): 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(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 | |||||
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 | |||||
DNAH11_chr7_21538039_21906839 | 21543345 | G | T | stop_gained | HIGH | HG00099.hp2 HG00323.hp2 HG00423.hp1 others(104): Show |
a0008a0009a0016others(81): Show | a0008c0214a0008c0262a0008c0266others(98): Show | a0008c0214t0006a0008c0262t0001a0008c0266t0005others(99): Show | a0008c0214t0006g0175a0008c0262t0001g0139a0008c0266t0005g0137others(104): Show | 107 | 298 | 0.3591 | 0 | c.100 others(3): Show |
p.Glu others(3): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 1/82 | 307/14343 | 100/13551 | 34/4516 | chr7 | TogoVar | ||
DNAJB7_chr22_40854549_40867113 | 40861830 | T | TA | frameshift_variant | HIGH | HG00423.hp1 HG00735.hp2 HG00738.hp1 others(13): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0000 | 16 | 410 | 0.0390 | 1 | c.164 others(4): Show |
p.Leu others(4): Show |
DNAJB7 | ENSG00000172404.5 | transcript | ENST00000307221.5 | protein_coding | 1/1 | 283/2565 | 164/930 | 55/309 | chr22 | 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 | ||||||
EFCAB13_chr17_47318955_47446312 | 47391492 | T | G | stop_gained | HIGH | HG00099.hp1 HG00642.hp1 HG00735.hp1 others(10): Show |
a0001 | a0001c0006 | a0001c0006t0001a0001c0006t0002a0001c0006t0003 | a0001c0006t0001g0093a0001c0006t0001g0094a0001c0006t0001g0095others(10): Show | 13 | 356 | 0.0365 | 0 | c.163 others(4): Show |
p.Tyr others(4): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 15/25 | 2075/3957 | 1638/2922 | 546/973 | chr17 | TogoVar | ||
ELANE_chr19_847303_861243 | 852914 | G | GGTGGGGG others(4): Show |
frameshift_variant | HIGH | HG00735.hp1 | a0007 | a0007c0014 | a0007c0014t0001 | a0007c0014t0001g0005 | 1 | 403 | 0.0025 | 11 | c.106 others(18): Show |
p.Ala others(4): Show |
ELANE | ENSG00000197561.7 | transcript | ENST00000263621.2 | protein_coding | 2/5 | 133/909 | 107/804 | 36/267 | chr19 | TogoVar | ||
ENTPD5_chr14_73958230_74024288 | 74015932 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG00642.hp2 HG00735.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0337a0001c0002t0002g0338 | 2 | 380 | 0.0053 | 0 | c.-23 others(6): Show |
ENTPD5 | ENSG00000187097.13 | transcript | ENST00000334696.11 | protein_coding | 1/15 | chr14 | TogoVar | ||||||
EOGT_chr3_68970225_69018684 | 69004436 | T | A | stop_gained | HIGH | HG00735.hp2 HG02615.hp1 HG02723.hp2 others(2): Show |
a0003 | a0003c0008 | a0003c0008t0001a0003c0008t0005a0003c0008t0029others(2): Show | a0003c0008t0001g0032a0003c0008t0005g0033a0003c0008t0029g0035others(2): Show | 5 | 444 | 0.0113 | 0 | c.562 others(3): Show |
p.Lys others(4): Show |
EOGT | ENSG00000163378.14 | transcript | ENST00000383701.8 | protein_coding | 8/18 | 1028/4443 | 562/1584 | 188/527 | chr3 | 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 | |
FAM149B1_chr10_73163119_73249504 | 73168308 | T | TGAG | start_lost others(1): Show |
HIGH | HG00735.hp1 HG01243.hp1 HG01891.hp1 others(16): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0003a0001c0001t0006a0001c0001t0015others(2): Show | a0001c0001t0003g0217a0001c0001t0003g0218a0001c0001t0003g0222others(16): Show | 19 | 236 | 0.0805 | 3 | c.-2_ others(7): Show |
FAM149B1 | ENSG00000138286.15 | transcript | ENST00000242505.11 | protein_coding | 1/14 | 223/5455 | 2/1749 | 1/582 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
FAM151A_chr1_54604181_54628525 | 54610464 | CCACTCCA others(22): Show |
C | frameshift_variant | HIGH | HG00099.hp1 HG00735.hp2 HG01074.hp2 others(2): Show |
a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0147a0007c0012t0001g0181a0007c0012t0001g0182others(2): Show | 5 | 448 | 0.0112 | -29 | c.100 others(38): Show |
p.Pro others(5): Show |
FAM151A | ENSG00000162391.12 | transcript | ENST00000302250.7 | protein_coding | 7/8 | 1161/1975 | 1003/1758 | 335/585 | chr1 | 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 | ||||||
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 | ||
FAM81B_chr5_95386366_95455441 | 95414083 | C | T | stop_gained | HIGH | HG00735.hp2 HG01255.hp1 |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0002 | a0003c0004t0001g0063a0003c0004t0002g0064 | 2 | 348 | 0.0058 | 0 | c.430 others(3): Show |
p.Gln others(4): Show |
FAM81B | ENSG00000153347.10 | transcript | ENST00000283357.10 | protein_coding | 4/10 | 454/1542 | 430/1359 | 144/452 | chr5 | TogoVar | ||
FAM90A16_chr8_7725739_7738749 | 7732124 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00558.hp1 HG00558.hp2 HG00673.hp1 others(52): Show |
a0001a0002a0003others(26): Show | a0001c0003a0001c0006a0001c0029others(30): Show | a0001c0003t0000a0001c0006t0000a0001c0029t0000others(30): Show | a0001c0003t0000g0005a0001c0003t0000g0011a0001c0003t0000g0027others(42): Show | 55 | 70 | 0.7857 | 0 | c.432 others(5): Show |
FAM90A16 | ENSG00000285620.1 | transcript | ENST00000648174.1 | protein_coding | 3/3 | chr8 | TogoVar | ||||||
FAM90A19_chr8_7748682_7761692 | 7755067 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(70): Show |
a0001a0003a0005others(25): Show | a0001c0001a0001c0033a0003c0003others(26): Show | a0001c0001t0000a0001c0033t0000a0003c0003t0000others(26): Show | a0001c0001t0000g0002a0001c0001t0000g0004a0001c0001t0000g0005others(48): Show | 73 | 116 | 0.6293 | 0 | c.432 others(5): Show |
FAM90A19 | ENSG00000285657.1 | transcript | ENST00000647903.1 | protein_coding | 3/3 | chr8 | 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 | |
FBXL18_chr7_5470797_5518809 | 5500960 | C | CG | frameshift_variant | HIGH | HG00544.hp2 HG00735.hp1 HG00738.hp1 others(36): Show |
a0002a0004a0005others(1): Show | a0002c0004a0002c0006a0002c0017others(3): Show | a0002c0004t0001a0002c0004t0002a0002c0004t0005others(26): Show | a0002c0004t0001g0007a0002c0004t0001g0144a0002c0004t0001g0148others(36): Show | 39 | 338 | 0.1154 | 1 | c.130 others(5): Show |
p.Ala others(5): Show |
FBXL18 | ENSG00000155034.21 | transcript | ENST00000382368.8 | protein_coding | 3/5 | 1443/8270 | 1308/2157 | 436/718 | chr7 | 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 | |||||
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 | ||
FMNL2_chr2_152330174_152654826 | 152619552 | G | GCCAC | frameshift_variant | HIGH | HG00438.hp1 HG00438.hp2 HG00735.hp1 others(72): Show |
a0002a0004a0008 | a0002c0002a0002c0004a0002c0007others(13): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(32): Show | a0002c0002t0001g0002a0002c0002t0001g0022a0002c0002t0001g0031others(72): Show | 75 | 200 | 0.3750 | 4 | c.167 others(13): Show |
p.Pro others(5): Show |
FMNL2 | ENSG00000157827.20 | transcript | ENST00000288670.14 | protein_coding | 15/26 | 2104/5630 | 1674/3279 | 558/1092 | INFO_REALIGN_3_PRIME | chr2 | 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 | |
FOXD4L1_chr2_113493665_113506150 | 113500127 | AC | A | frameshift_variant | HIGH | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(96): Show |
a0000 | a0000c0002a0000c0005a0000c0009others(3): Show | a0000c0002t0002a0000c0002t0014a0000c0002t0016others(5): Show | a0000c0002t0002g0000a0000c0002t0014g0000a0000c0002t0016g0000others(5): Show | 99 | 326 | 0.3037 | -1 | c.876 others(4): Show |
p.Gly others(5): Show |
FOXD4L1 | ENSG00000184492.7 | transcript | ENST00000306507.7 | protein_coding | 1/1 | 1468/2486 | 876/1227 | 292/408 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
FOXD4L1_chr2_113493665_113506150 | 113500482 | A | G | stop_lost | HIGH | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(98): Show |
a0000 | a0000c0002a0000c0005a0000c0009others(4): Show | a0000c0002t0002a0000c0002t0014a0000c0002t0016others(6): Show | a0000c0002t0002g0000a0000c0002t0014g0000a0000c0002t0016g0000others(6): Show | 101 | 326 | 0.3098 | 0 | c.122 others(4): Show |
p.Ter others(11): Show |
FOXD4L1 | ENSG00000184492.7 | transcript | ENST00000306507.7 | protein_coding | 1/1 | 1818/2486 | 1226/1227 | 409/408 | chr2 | 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 | ||
FUT2_chr19_48690971_48710951 | 48703417 | G | A | stop_gained | HIGH | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(88): Show |
a0002 | a0002c0002a0002c0008a0002c0022 | a0002c0002t0003a0002c0002t0005a0002c0002t0008others(13): Show | a0002c0002t0003g0004a0002c0002t0003g0008a0002c0002t0003g0017others(51): Show | 91 | 394 | 0.2310 | 0 | c.461 others(3): Show |
p.Trp others(4): Show |
FUT2 | ENSG00000176920.14 | transcript | ENST00000425340.3 | protein_coding | 2/2 | 582/3116 | 461/1032 | 154/343 | chr19 | TogoVar | ||
GABRR3_chr3_97980102_98040315 | 98007903 | A | T | stop_gained others(1): Show |
HIGH | HG00280.hp2 HG00323.hp2 HG00642.hp1 others(43): Show |
a0002 | a0002c0002a0002c0007 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(10): Show | a0002c0002t0001g0271a0002c0002t0002g0002a0002c0002t0002g0004others(40): Show | 46 | 382 | 0.1204 | 0 | c.615 others(3): Show |
p.Tyr others(4): Show |
GABRR3 | ENSG00000183185.10 | transcript | ENST00000472788.6 | protein_coding | 7/10 | 743/3113 | 615/1404 | 205/467 | chr3 | 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 | ||||||
GEN1_chr2_17749138_17793946 | 17781726 | CAAGTT | C | frameshift_variant | HIGH | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(27): Show |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0023a0004c0004t0039 | a0004c0004t0001g0003a0004c0004t0001g0006a0004c0004t0001g0039others(14): Show | 30 | 318 | 0.0943 | -5 | c.251 others(14): Show |
p.Lys others(5): Show |
GEN1 | ENSG00000178295.15 | transcript | ENST00000381254.7 | protein_coding | 14/14 | 2738/9957 | 2515/2727 | 839/908 | chr2 | TogoVar | ||
GHR_chr5_42418439_42726878 | 42628209 | TTTATATG others(2672): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG00280.hp2 HG00423.hp2 HG00621.hp2 others(87): Show |
a0001a0004a0008 | a0001c0001a0001c0008a0001c0012others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0002g0016a0001c0001t0002g0017a0001c0001t0002g0021others(87): Show | 90 | 210 | 0.4286 | -2679 | c.71- others(15): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GNLY_chr2_85689358_85703852 | 85694429 | G | A | stop_gained | HIGH | HG00735.hp2 HG01109.hp2 HG02572.hp1 others(5): Show |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0007a0003c0003t0003g0020 | 8 | 398 | 0.0201 | 0 | c.11G others(2): Show |
p.Trp others(2): Show |
GNLY | ENSG00000115523.17 | transcript | ENST00000263863.9 | protein_coding | 1/5 | 72/777 | 11/438 | 4/145 | chr2 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23439745 | T | G | stop_lost | HIGH | HG00735.hp2 | a0001 | a0001c0052 | a0001c0052t0001 | a0001c0052t0001g0069 | 1 | 396 | 0.0025 | 0 | c.273 others(4): Show |
p.Ter others(11): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2792/3499 | 2730/2730 | 910/909 | 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 | 23440076 | C | CCTGGCCC others(430): Show |
frameshift_variant | HIGH | HG00735.hp2 | a0001 | a0001c0052 | a0001c0052t0001 | a0001c0052t0001g0069 | 1 | 396 | 0.0025 | 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 |