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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COQ8B_chr19_40686530_40721886 | 40714118 | G | A | stop_gained | HIGH | HG03453.hp2 | a0006 | a0006c0026 | a0006c0026t0001 | a0006c0026t0001g0163 | 1 | 410 | 0.0024 | 0 | c.238 others(3): Show |
p.Arg others(3): Show |
COQ8B | ENSG00000123815.13 | transcript | ENST00000324464.8 | protein_coding | 4/15 | 541/2443 | 238/1635 | 80/544 | chr19 | TogoVar | ||
CPN2_chr3_194334768_194356328 | 194341178 | G | A | stop_gained | HIGH | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(133): Show |
a0002a0005a0010others(4): Show | a0002c0002a0002c0011a0002c0014others(7): Show | a0002c0002t0003a0002c0002t0005a0002c0002t0007others(17): Show | a0002c0002t0003g0002a0002c0002t0003g0004a0002c0002t0003g0006others(62): Show | 136 | 440 | 0.3091 | 0 | c.152 others(4): Show |
p.Gln others(4): Show |
CPN2 | ENSG00000178772.7 | transcript | ENST00000323830.4 | protein_coding | 2/2 | 1615/3025 | 1525/1638 | 509/545 | chr3 | TogoVar | ||
CR1_chr1_207491157_207646765 | 207536710 | AGCCTTCA others(35643): Show |
A | exon_loss_variant | HIGH | HG03453.hp2 | a0050 | a0050c0052 | a0050c0052t0001 | a0050c0052t0001g0073 | 1 | 360 | 0.0028 | -35650 | c.175 others(19): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 12/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CR1_chr1_207491157_207646765 | 207545757 | GCACACAC others(18566): Show |
G | exon_loss_variant | HIGH | HG01891.hp1 HG02572.hp1 HG02723.hp2 others(6): Show |
a0011a0026 | a0011c0010a0026c0027 | a0011c0010t0002a0011c0010t0005a0026c0027t0002 | a0011c0010t0002g0135a0011c0010t0002g0136a0011c0010t0002g0137others(6): Show | 9 | 360 | 0.0250 | -18573 | c.251 others(17): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 16/47 | INFO_REALIGN_3_PRIME | chr1 | 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 | ||||||
CYP2A7_chr19_40870439_40887231 | 40875778 | G | T | stop_gained | HIGH | HG00738.hp1 HG01070.hp1 HG01071.hp2 others(19): Show |
a0006a0023a0030 | a0006c0010a0006c0016a0006c0021others(4): Show | a0006c0010t0001a0006c0016t0001a0006c0021t0007others(4): Show | a0006c0010t0001g0014a0006c0010t0001g0032a0006c0010t0001g0199others(11): Show | 22 | 398 | 0.0553 | 0 | c.140 others(4): Show |
p.Ser others(4): Show |
CYP2A7 | ENSG00000198077.11 | transcript | ENST00000301146.9 | protein_coding | 9/9 | 1421/1760 | 1400/1485 | 467/494 | chr19 | TogoVar | ||
CYP2C18_chr10_94678729_94741190 | 94687805 | T | A | stop_gained | HIGH | HG01884.hp1 HG02258.hp2 HG02630.hp2 others(21): Show |
a0003 | a0003c0003a0003c0007a0003c0010 | a0003c0003t0001a0003c0003t0006a0003c0007t0001others(1): Show | a0003c0003t0001g0048a0003c0003t0001g0236a0003c0003t0006g0014others(13): Show | 24 | 378 | 0.0635 | 0 | c.204 others(3): Show |
p.Tyr others(3): Show |
CYP2C18 | ENSG00000108242.13 | transcript | ENST00000285979.11 | protein_coding | 2/9 | 295/2310 | 204/1473 | 68/490 | chr10 | 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 | |
CYP3A43_chr7_99823013_99871093 | 99863766 | AAAAATTA others(2166): Show |
A | splice_acceptor_variant others(3): Show |
HIGH | HG01109.hp2 HG01243.hp1 HG01884.hp2 others(25): Show |
a0002a0003a0007 | a0002c0010a0002c0011a0002c0014others(3): Show | a0002c0010t0001a0002c0011t0001a0002c0014t0001others(3): Show | a0002c0010t0001g0035a0002c0010t0001g0180a0002c0011t0001g0036others(13): Show | 28 | 326 | 0.0859 | -2173 | c.141 others(12): Show |
p.Ile others(13): Show |
CYP3A43 | ENSG00000021461.18 | transcript | ENST00000354829.7 | protein_coding | 13/13 | 1417/1512 | 473/503 | INFO_REALIGN_3_PRIME | chr7 | 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 | ||
DCDC2C_chr2_3698575_3853008 | 3778886 | T | C | splice_donor_variant others(1): Show |
HIGH | HG01123.hp2 HG02145.hp1 HG02486.hp1 others(11): Show |
a0001a0005 | a0001c0005a0005c0010 | a0001c0005t0001a0001c0005t0002a0001c0005t0005others(4): Show | a0001c0005t0001g0229a0001c0005t0001g0231a0001c0005t0001g0248others(11): Show | 14 | 324 | 0.0432 | 0 | c.102 others(6): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 9/10 | chr2 | TogoVar | ||||||
DDX10_chr11_108660069_108945927 | 108675610 | C | T | stop_gained | HIGH | HG03453.hp2 | a0003 | a0003c0014 | a0003c0014t0001 | a0003c0014t0001g0091 | 1 | 320 | 0.0031 | 0 | c.262 others(3): Show |
p.Gln others(3): Show |
DDX10 | ENSG00000178105.12 | transcript | ENST00000322536.8 | protein_coding | 3/18 | 347/3217 | 262/2628 | 88/875 | chr11 | 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(1): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00639.hp1 others(23): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0026others(1): Show | a0001c0001t0002a0001c0001t0016a0001c0001t0029others(14): Show | a0001c0001t0002g0041a0001c0001t0002g0107a0001c0001t0002g0152others(22): Show | 26 | 316 | 0.0823 | 8 | c.623 others(20): 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(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 | |||||
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 | 122602824 | TTAAGATG others(8111): Show |
T | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00639.hp1 others(18): Show |
a0006a0009a0011others(4): Show | a0006c0010a0009c0011a0009c0102others(6): Show | a0006c0010t0001a0006c0010t0003a0006c0010t0004others(8): Show | a0006c0010t0001g0011a0006c0010t0001g0140a0006c0010t0003g0139others(15): Show | 21 | 282 | 0.0745 | -8118 | c.408 others(15): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 34/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DNAAF4_chr15_55425308_55513234 | 55430684 | C | A | stop_gained | HIGH | HG00642.hp2 HG00738.hp2 HG01069.hp1 others(50): Show |
a0004a0005 | a0004c0005a0004c0007a0005c0004 | a0004c0005t0001a0004c0005t0002a0004c0005t0003others(5): Show | a0004c0005t0001g0124a0004c0005t0001g0212a0004c0005t0001g0296others(50): Show | 53 | 338 | 0.1568 | 0 | c.124 others(4): Show |
p.Glu others(4): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 10/10 | 1617/1993 | 1249/1263 | 417/420 | chr15 | 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 | ||
DPPA4_chr3_109321144_109342546 | 109337516 | A | G | start_lost | HIGH | HG01081.hp1 HG01175.hp2 HG01884.hp2 others(22): Show |
a0003a0005 | a0003c0004a0003c0006a0003c0010others(1): Show | a0003c0004t0002a0003c0004t0004a0003c0006t0002others(2): Show | a0003c0004t0002g0018a0003c0004t0002g0026a0003c0004t0002g0048others(17): Show | 25 | 416 | 0.0601 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
DPPA4 | ENSG00000121570.13 | transcript | ENST00000335658.7 | protein_coding | 1/7 | 31/2788 | 2/915 | 1/304 | chr3 | TogoVar | ||
DYNLT5_chr1_66747459_66784047 | 66776404 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00099.hp2 HG00323.hp2 HG00544.hp1 others(52): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0010a0003c0003t0021 | a0003c0003t0002g0007a0003c0003t0002g0011a0003c0003t0002g0012others(30): Show | 55 | 402 | 0.1368 | 0 | c.336 others(5): Show |
DYNLT5 | ENSG00000152760.10 | transcript | ENST00000282670.7 | protein_coding | 4/4 | chr1 | 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 | |
ECT2L_chr6_138791087_138909070 | 138876471 | G | C | splice_acceptor_variant others(1): Show |
HIGH | HG01884.hp2 HG02109.hp1 HG02257.hp2 others(4): Show |
a0004a0005 | a0004c0006a0005c0007a0005c0024 | a0004c0006t0015a0005c0007t0001a0005c0024t0005 | a0004c0006t0015g0213a0005c0007t0001g0300a0005c0007t0001g0301others(4): Show | 7 | 326 | 0.0215 | 0 | c.157 others(6): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 13/21 | chr6 | TogoVar | ||||||
EPB41L4A_chr5_112157619_112424277 | 112165119 | C | CTAAAA | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(219): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0021others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(82): Show | a0001c0001t0001g0086a0001c0001t0001g0100a0001c0001t0001g0103others(217): Show | 222 | 228 | 0.9737 | 5 | c.193 others(18): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 22/22 | chr5 | 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 | ||
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 | ||
FAM237B_chr7_90311807_90326304 | 90319747 | A | T | start_lost | HIGH | HG00738.hp1 HG02896.hp2 HG02897.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0010 | 4 | 408 | 0.0098 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
FAM237B | ENSG00000283267.2 | transcript | ENST00000692316.1 | protein_coding | 3/3 | 435/3375 | 2/420 | 1/139 | chr7 | 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 | ||||||
FAM90A17_chr8_7741034_7754044 | 7747419 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00558.hp1 others(73): Show |
a0001a0002a0005others(21): Show | a0001c0001a0001c0015a0002c0005others(26): Show | a0001c0001t0000a0001c0015t0000a0002c0005t0000others(26): Show | a0001c0001t0000g0001a0001c0001t0000g0002a0001c0001t0000g0003others(50): Show | 76 | 108 | 0.7037 | 0 | c.432 others(5): Show |
FAM90A17 | ENSG00000285720.1 | transcript | ENST00000650426.1 | protein_coding | 3/3 | chr8 | TogoVar | ||||||
FAM90A18_chr8_7718091_7731101 | 7724476 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00558.hp1 others(26): Show |
a0001a0003a0004others(18): Show | a0001c0002a0001c0017a0003c0001others(19): Show | a0001c0002t0000a0001c0017t0000a0003c0001t0000others(19): Show | a0001c0002t0000g0004a0001c0002t0000g0005a0001c0017t0000g0030others(24): Show | 29 | 44 | 0.6591 | 0 | c.432 others(5): Show |
FAM90A18 | ENSG00000285913.1 | transcript | ENST00000647769.1 | 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 | ||||||
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 | ||||||
FAN1_chr15_30898915_30948108 | 30937260 | G | A | splice_donor_variant others(1): Show |
HIGH | HG02559.hp2 HG02922.hp2 HG02965.hp2 others(2): Show |
a0001a0009 | a0001c0001a0009c0016 | a0001c0001t0003a0009c0016t0003 | a0001c0001t0003g0006a0009c0016t0003g0060 | 5 | 303 | 0.0165 | 0 | c.*3+ others(4): Show |
FAN1 | ENSG00000198690.10 | transcript | ENST00000362065.9 | protein_coding | 14/14 | chr15 | 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 | |||||
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 | |||||
FLT4_chr5_180596506_180654600 | 180614180 | CTGGGGAG others(27): Show |
C | splice_acceptor_variant others(2): Show |
HIGH | HG01167.hp1 HG02109.hp1 HG02809.hp2 others(3): Show |
a0006a0021a0024 | a0006c0014a0006c0033a0021c0034others(1): Show | a0006c0014t0002a0006c0014t0009a0006c0033t0009others(2): Show | a0006c0014t0002g0374a0006c0014t0009g0301a0006c0014t0009g0302others(3): Show | 6 | 388 | 0.0155 | -34 | c.322 others(48): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 23/29 | chr5 | 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 | |
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 | ||
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 | |
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 | ||
FOXD4_chr9_111231_123417 | 117363 | T | TC | frameshift_variant | HIGH | HG01175.hp1 HG01891.hp2 HG02622.hp1 others(10): Show |
a0005a0011a0014others(1): Show | a0005c0010a0005c0023a0011c0019others(2): Show | a0005c0010t0006a0005c0010t0020a0005c0023t0014others(3): Show | a0005c0010t0006g0000a0005c0010t0020g0000a0005c0023t0014g0000others(3): Show | 13 | 452 | 0.0288 | 1 | c.756 others(4): Show |
p.Arg others(5): Show |
FOXD4 | ENSG00000170122.6 | transcript | ENST00000382500.4 | protein_coding | 1/1 | 1054/2187 | 756/1320 | 252/439 | 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 | ||
GGACT_chr13_100525180_100593789 | 100588740 | C | T | splice_donor_variant others(1): Show |
HIGH | HG01891.hp2 HG02055.hp2 HG02451.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0023a0001c0001t0005g0024a0001c0001t0005g0025others(9): Show | 12 | 376 | 0.0319 | 0 | c.-18 others(6): Show |
GGACT | ENSG00000134864.11 | transcript | ENST00000683975.1 | protein_coding | 1/2 | chr13 | 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 | ||
GOLGA6L10_chr15_82334993_82354475 | 82345107 | A | ATGTAGCC others(33): Show |
frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(57): Show |
a0003a0005a0043 | a0003c0003a0003c0061a0005c0005others(1): Show | a0003c0003t0002a0003c0003t0015a0003c0003t0019others(7): Show | a0003c0003t0002g0001a0003c0003t0002g0018a0003c0003t0002g0041others(23): Show | 60 | 301 | 0.1993 | 40 | c.752 others(47): Show |
p.Cys others(5): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 852/4452 | 752/1569 | 251/522 | chr15 | TogoVar | ||
GOLGA6L10_chr15_82334993_82354475 | 82345110 | C | CGT | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(63): Show |
a0003a0005a0016others(4): Show | a0003c0003a0003c0061a0005c0005others(5): Show | a0003c0003t0002a0003c0003t0015a0003c0003t0019others(11): Show | a0003c0003t0002g0001a0003c0003t0002g0018a0003c0003t0002g0041others(27): Show | 66 | 301 | 0.2193 | 2 | c.749 others(9): Show |
p.Cys others(5): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 849/4452 | 749/1569 | 250/522 | chr15 | TogoVar | ||
GOLGA6L1_chr15_23122066_23141822 | 23129472 | G | A | stop_gained others(1): Show |
HIGH | HG00408.hp1 HG00438.hp2 HG00544.hp2 others(52): Show |
a0002a0004a0006others(22): Show | a0002c0003a0002c0046a0002c0048others(24): Show | a0002c0003t0002a0002c0003t0018a0002c0046t0002others(27): Show | a0002c0003t0002g0005a0002c0003t0002g0015a0002c0003t0002g0016others(40): Show | 55 | 204 | 0.2696 | 0 | c.198 others(4): Show |
p.Gln others(4): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 8/9 | 2072/3822 | 1981/2007 | 661/668 | chr15 | TogoVar | ||
GOLGA6L1_chr15_23122066_23141822 | 23129772 | G | A | stop_gained | HIGH | HG00741.hp1 HG01192.hp2 HG02273.hp2 others(4): Show |
a0015a0023a0058others(2): Show | a0015c0013a0023c0021a0058c0045others(2): Show | a0015c0013t0010a0023c0021t0004a0023c0021t0023others(3): Show | a0015c0013t0010g0021a0023c0021t0004g0100a0023c0021t0023g0098others(3): Show | 7 | 204 | 0.0343 | 0 | c.168 others(4): Show |
p.Gln others(4): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 8/9 | 1772/3822 | 1681/2007 | 561/668 | chr15 | TogoVar |