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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEACAM21_chr19_41571166_41591844 | 41586462 | A | T | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(160): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0003a0002c0005others(9): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0003others(12): Show | a0001c0001t0001g0028a0001c0001t0001g0031a0001c0001t0001g0063others(39): Show | 163 | 393 | 0.4148 | 0 | c.*1- others(4): Show |
CEACAM21 | ENSG00000007129.18 | transcript | ENST00000401445.4 | protein_coding | 6/6 | chr19 | TogoVar | ||||||
CELA1_chr12_51323442_51351679 | 51346628 | AG | A | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(208): Show |
a0002a0003 | a0002c0002a0002c0003a0002c0004others(5): Show | a0002c0002t0002a0002c0003t0001a0002c0003t0002others(6): Show | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0018others(115): Show | 211 | 406 | 0.5197 | -1 | c.10d others(3): Show |
p.Leu others(3): Show |
CELA1 | ENSG00000139610.2 | transcript | ENST00000293636.2 | protein_coding | 1/8 | 51/953 | 10/777 | 4/258 | chr12 | TogoVar | ||
CEL_chr9_133056981_133076861 | 133071270 | G | GC | frameshift_variant | HIGH | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(42): Show |
a0001a0030 | a0001c0019a0001c0020a0001c0054others(40): Show | a0001c0019t0001a0001c0020t0001a0001c0054t0001others(40): Show | a0001c0019t0001g0001a0001c0019t0001g0003a0001c0020t0001g0001others(42): Show | 45 | 416 | 0.1082 | 1 | c.177 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1799/2381 | 1777/2262 | 593/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071304 | CCCCCCCC others(58): Show |
C | frameshift_variant | HIGH | HG00438.hp1 HG00738.hp1 HG02647.hp2 others(3): Show |
a0001a0005 | a0001c0056a0001c0057a0001c0061others(3): Show | a0001c0056t0001a0001c0057t0001a0001c0061t0001others(3): Show | a0001c0056t0001g0008a0001c0057t0001g0008a0001c0061t0001g0006others(3): Show | 6 | 416 | 0.0144 | -65 | c.181 others(74): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1832/2381 | 1810/2262 | 604/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071402 | G | GC | frameshift_variant | HIGH | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(25): Show |
a0001a0005a0006others(2): Show | a0001c0019a0001c0054a0001c0056others(24): Show | a0001c0019t0001a0001c0054t0001a0001c0056t0001others(24): Show | a0001c0019t0001g0001a0001c0019t0001g0003a0001c0054t0001g0056others(25): Show | 28 | 416 | 0.0673 | 1 | c.190 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1931/2381 | 1909/2262 | 637/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071501 | G | GC | frameshift_variant | HIGH | HG00408.hp1 HG00544.hp1 HG00597.hp1 others(49): Show |
a0001a0004a0005others(10): Show | a0001c0054a0001c0060a0001c0061others(48): Show | a0001c0054t0001a0001c0060t0001a0001c0061t0001others(48): Show | a0001c0054t0001g0056a0001c0060t0001g0001a0001c0061t0001g0006others(48): Show | 52 | 416 | 0.1250 | 1 | c.200 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2030/2381 | 2008/2262 | 670/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071567 | G | GC | frameshift_variant | HIGH | HG00099.hp2 HG00438.hp1 HG00544.hp1 others(82): Show |
a0001a0002a0004others(19): Show | a0001c0054a0001c0055a0001c0056others(60): Show | a0001c0054t0001a0001c0055t0001a0001c0056t0001others(60): Show | a0001c0054t0001g0056a0001c0055t0001g0001a0001c0056t0001g0008others(73): Show | 85 | 416 | 0.2043 | 1 | c.207 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2096/2381 | 2074/2262 | 692/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071567 | G | GCCCCCCC others(95): Show |
stop_gained others(1): Show |
HIGH | HG02809.hp1 | a0001 | a0001c0072 | a0001c0072t0001 | a0001c0072t0001g0012 | 1 | 416 | 0.0024 | 102 | c.207 others(111): Show |
p.Pro others(115): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2096/2381 | 2074/2262 | 692/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CES5A_chr16_55841154_55880373 | 55869642 | G | A | stop_gained | HIGH | HG01168.hp1 HG02109.hp1 HG02572.hp1 others(11): Show |
a0007a0011 | a0007c0020a0007c0021a0007c0068others(6): Show | a0007c0020t0001a0007c0020t0003a0007c0021t0001others(7): Show | a0007c0020t0001g0364a0007c0020t0001g0365a0007c0020t0003g0118others(11): Show | 14 | 449 | 0.0312 | 0 | c.520 others(3): Show |
p.Gln others(4): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 4/13 | 672/2177 | 520/1728 | 174/575 | chr16 | TogoVar | ||
CHIA_chr1_111285851_111325563 | 111317705 | G | T | stop_gained | HIGH | HG02809.hp1 HG02922.hp2 HG03540.hp1 |
a0010 | a0010c0012 | a0010c0012t0003 | a0010c0012t0003g0133a0010c0012t0003g0134a0010c0012t0003g0136 | 3 | 426 | 0.0070 | 0 | c.505 others(3): Show |
p.Glu others(4): Show |
CHIA | ENSG00000134216.19 | transcript | ENST00000369740.6 | protein_coding | 7/12 | 673/1696 | 505/1431 | 169/476 | chr1 | TogoVar | ||
CHRNG_chr2_232534692_232553115 | 232542869 | T | TGCCTGCC others(1): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG02486.hp2 HG02809.hp1 HG03471.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0012a0001c0001t0013 | a0001c0001t0010g0054a0001c0001t0012g0052a0001c0001t0013g0025 | 5 | 434 | 0.0115 | 8 | c.605 others(20): Show |
CHRNG | ENSG00000196811.13 | transcript | ENST00000651502.1 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CLDN2_chrX_106915402_106935861 | 106928040 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG01123.hp2 HG02257.hp1 HG02280.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0003 | a0001c0001t0001g0081a0001c0001t0003g0019a0001c0001t0003g0032others(3): Show | 10 | 255 | 0.0392 | 1 | c.-17 others(7): Show |
CLDN2 | ENSG00000165376.12 | transcript | ENST00000336803.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLDN9_chr16_3007923_3019505 | 3013938 | G | GC | frameshift_variant | HIGH | HG00642.hp1 HG01928.hp2 HG02145.hp2 others(9): Show |
a0000 | a0000c0002 | a0000c0002t0001a0000c0002t0002a0000c0002t0003others(1): Show | a0000c0002t0001g0000a0000c0002t0002g0000a0000c0002t0003g0000others(1): Show | 12 | 428 | 0.0280 | 1 | c.580 others(4): Show |
p.Arg others(5): Show |
CLDN9 | ENSG00000213937.4 | transcript | ENST00000445369.3 | protein_coding | 1/1 | 1021/1583 | 581/654 | 194/217 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
CNDP2_chr18_74491363_74528454 | 74518940 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(352): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(56): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(255): Show | 355 | 424 | 0.8373 | 1 | c.121 others(7): Show |
CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CNTLN_chr9_17130040_17508923 | 17457514 | TA | T | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(135): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0004a0001c0014others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(49): Show | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0001t0001g0065others(135): Show | 138 | 218 | 0.6330 | -1 | c.311 others(7): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COG6_chr13_39650662_39757628 | 39679963 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(131): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(123): Show | 134 | 370 | 0.3622 | 1 | c.624 others(6): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120280903 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG02027.hp1 HG02293.hp2 HG02451.hp1 others(10): Show |
a0001a0002a0015 | a0001c0001a0002c0002a0002c0006others(2): Show | a0001c0001t0002a0001c0001t0020a0002c0002t0001others(4): Show | a0001c0001t0002g0029a0001c0001t0002g0069a0001c0001t0002g0070others(10): Show | 13 | 218 | 0.0596 | 1 | c.368 others(7): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 30/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL16A1_chr1_31647263_31709017 | 31689049 | C | A | splice_donor_variant others(1): Show |
HIGH | HG01243.hp1 HG01243.hp2 HG01884.hp1 others(15): Show |
a0001a0002a0005others(1): Show | a0001c0005a0001c0006a0001c0016others(7): Show | a0001c0005t0001a0001c0006t0001a0001c0006t0002others(10): Show | a0001c0005t0001g0100a0001c0005t0001g0128a0001c0005t0001g0130others(15): Show | 18 | 342 | 0.0526 | 0 | c.165 others(6): Show |
COL16A1 | ENSG00000084636.18 | transcript | ENST00000373672.8 | protein_coding | 24/70 | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207542737 | CACATGTG others(18550): Show |
C | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(273): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0021a0001c0037others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0039others(270): Show | 276 | 360 | 0.7667 | -18557 | c.223 others(19): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 14/47 | 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 | |||||
CRTC3_chr15_90524923_90650345 | 90638514 | A | AC | frameshift_variant | HIGH | HG00438.hp1 HG00558.hp2 HG00735.hp1 others(28): Show |
a0003a0004 | a0003c0003a0003c0013a0003c0014others(1): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(10): Show | a0003c0003t0001g0045a0003c0003t0001g0060a0003c0003t0001g0184others(28): Show | 31 | 276 | 0.1123 | 1 | c.134 others(5): Show |
p.Tyr others(5): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 12/15 | 1490/5214 | 1341/1860 | 447/619 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
CTAG1B_chrX_154612609_154624282 | 154619030 | A | AC | frameshift_variant | HIGH | HG02809.hp1 | a0008 | a0008c0006 | a0008c0006t0001 | a0008c0006t0001g0011 | 1 | 254 | 0.0039 | 1 | c.188 others(4): Show |
p.Pro others(4): Show |
CTAG1B | ENSG00000184033.14 | transcript | ENST00000328435.3 | protein_coding | 1/3 | 252/759 | 188/543 | 63/180 | chrX | TogoVar | ||
CTXND2_chr1_150882136_150918292 | 150887315 | T | C | splice_donor_variant others(1): Show |
HIGH | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 372 | 0.0027 | 0 | c.-74 others(5): Show |
CTXND2 | ENSG00000283324.1 | transcript | ENST00000636087.1 | protein_coding | 1/1 | 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 | ||||||
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 | ||||||
DDX51_chr12_132131594_132149319 | 132144070 | A | AC | frameshift_variant | HIGH | HG01255.hp1 HG01981.hp2 HG02809.hp1 others(3): Show |
a0006 | a0006c0011a0006c0014a0006c0023 | a0006c0011t0001a0006c0011t0031a0006c0014t0002others(2): Show | a0006c0011t0001g0021a0006c0011t0031g0038a0006c0014t0002g0037others(2): Show | 6 | 334 | 0.0180 | 1 | c.226 others(4): Show |
p.Val others(4): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1/15 | 249/4702 | 226/2001 | 76/666 | chr12 | TogoVar | ||
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 | |
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(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(3): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG00642.hp1 HG01993.hp1 HG02074.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0015a0001c0002t0012a0001c0003t0006others(8): Show | a0001c0001t0015g0163a0001c0002t0012g0049a0001c0003t0006g0262others(10): Show | 13 | 316 | 0.0411 | 10 | c.623 others(22): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DHDH_chr19_48928699_48949969 | 48942517 | C | T | stop_gained | HIGH | HG00621.hp2 HG00738.hp2 HG01261.hp1 others(26): Show |
a0004a0011a0015others(1): Show | a0004c0004a0011c0020a0015c0024others(1): Show | a0004c0004t0001a0011c0020t0001a0015c0024t0001others(1): Show | a0004c0004t0001g0008a0004c0004t0001g0011a0004c0004t0001g0020others(13): Show | 29 | 436 | 0.0665 | 0 | c.697 others(3): Show |
p.Gln others(4): Show |
DHDH | ENSG00000104808.8 | transcript | ENST00000221403.7 | protein_coding | 5/7 | 720/1064 | 697/1005 | 233/334 | chr19 | TogoVar | ||
DIAPH2_chrX_96679842_97609997 | 96916417 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00280.hp1 HG00621.hp1 others(53): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0010a0001c0001t0001g0018a0001c0001t0001g0019others(53): Show | 56 | 147 | 0.3810 | 1 | c.733 others(6): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chrX | 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 | ||||
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 | ||
DNAH8_chr6_38710311_39035792 | 38770561 | T | C | splice_donor_variant others(1): Show |
HIGH | HG01255.hp2 HG01891.hp1 HG02559.hp1 others(6): Show |
a0008a0012a0015others(4): Show | a0008c0127a0012c0126a0015c0125others(5): Show | a0008c0127t0001a0012c0126t0001a0015c0125t0001others(5): Show | a0008c0127t0001g0152a0012c0126t0001g0208a0015c0125t0001g0229others(6): Show | 9 | 284 | 0.0317 | 0 | c.176 others(6): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 12/92 | chr6 | TogoVar | ||||||
DOCK6_chr19_11194295_11267524 | 11215472 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG02486.hp2 HG02622.hp1 HG02809.hp2 others(10): Show |
a0001a0034 | a0001c0011a0001c0014a0001c0040others(2): Show | a0001c0011t0001a0001c0014t0001a0001c0014t0002others(3): Show | a0001c0011t0001g0289a0001c0011t0001g0290a0001c0011t0001g0291others(10): Show | 13 | 314 | 0.0414 | 1 | c.402 others(7): Show |
DOCK6 | ENSG00000130158.14 | transcript | ENST00000294618.12 | protein_coding | 31/47 | chr19 | 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 | ||
DYDC2_chr10_80351781_80373073 | 80362949 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG01243.hp2 HG02809.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031a0001c0001t0001g0097 | 3 | 388 | 0.0077 | 0 | c.148 others(5): Show |
DYDC2 | ENSG00000133665.13 | transcript | ENST00000256039.3 | protein_coding | 3/4 | chr10 | TogoVar | ||||||
DZANK1_chr20_18378367_18472030 | 18412855 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(210): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0007a0001c0015others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0285a0001c0001t0001g0293a0001c0001t0001g0333others(196): Show | 213 | 374 | 0.5695 | 0 | c.130 others(6): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 12/20 | chr20 | TogoVar | ||||||
EBLN2_chr3_73056659_73068337 | 73062330 | C | CA | frameshift_variant | HIGH | HG00099.hp1 HG00423.hp2 HG00597.hp1 others(111): Show |
a0002a0005a0006 | a0002c0002a0002c0009a0005c0006others(1): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0009others(8): Show | a0002c0002t0002g0000a0002c0002t0003g0000a0002c0002t0009g0000others(8): Show | 114 | 428 | 0.2664 | 1 | c.250 others(4): Show |
p.Arg others(4): Show |
EBLN2 | ENSG00000255423.1 | transcript | ENST00000533473.1 | protein_coding | 1/1 | 674/1679 | 251/819 | 84/272 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
ECD_chr10_73128668_73173008 | 73163951 | CTA | C | splice_acceptor_variant others(2): Show |
HIGH | HG01074.hp1 HG01346.hp2 HG01884.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0014a0002c0002t0003g0041a0002c0002t0003g0042others(5): Show | 9 | 272 | 0.0331 | -2 | c.-13 others(13): Show |
ECD | ENSG00000122882.11 | transcript | ENST00000372979.9 | protein_coding | 1/13 | chr10 | TogoVar | ||||||
EIF3CL_chr16_28374715_28408841 | 28388130 | C | T | stop_gained | HIGH | HG00544.hp1 HG01106.hp1 HG01243.hp1 others(24): Show |
a0002a0003a0005others(2): Show | a0002c0002a0002c0007a0002c0013others(5): Show | a0002c0002t0001a0002c0007t0001a0002c0013t0001others(5): Show | a0002c0002t0001g0026a0002c0002t0001g0027a0002c0002t0001g0029others(24): Show | 27 | 172 | 0.1570 | 0 | c.174 others(4): Show |
p.Trp others(4): Show |
EIF3CL | ENSG00000205609.13 | transcript | ENST00000380876.5 | protein_coding | 15/21 | 1834/2913 | 1749/2745 | 583/914 | chr16 | TogoVar | ||
EIF3CL_chr16_28374715_28408841 | 28392144 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG01106.hp1 HG02257.hp1 HG02280.hp2 others(5): Show |
a0002a0003a0006 | a0002c0018a0003c0003a0006c0009 | a0002c0018t0001a0003c0003t0002a0006c0009t0002 | a0002c0018t0001g0028a0003c0003t0002g0010a0003c0003t0002g0011others(5): Show | 8 | 172 | 0.0465 | 0 | c.777 others(5): Show |
EIF3CL | ENSG00000205609.13 | transcript | ENST00000380876.5 | protein_coding | 8/20 | chr16 | 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 | ||||||
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 | |||||
FBP2_chr9_94553720_94598824 | 94558939 | T | C | stop_lost | HIGH | HG02622.hp1 HG02809.hp1 HG03139.hp1 others(1): Show |
a0000 | a0000c0011a0000c0012 | a0000c0011t0001a0000c0012t0001 | a0000c0011t0001g0043a0000c0011t0001g0044a0000c0012t0001g0163others(1): Show | 4 | 380 | 0.0105 | 0 | c.101 others(4): Show |
p.Ter others(11): Show |
FBP2 | ENSG00000130957.5 | transcript | ENST00000375337.4 | protein_coding | 7/7 | 1117/1336 | 1019/1020 | 340/339 | chr9 | 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 |