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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACSM2A_chr16_20446521_20492669 | 20465682 | C | T | stop_gained | HIGH | HG00673.hp2 HG02071.hp1 HG02083.hp2 others(31): Show |
a0006 | a0006c0006a0006c0016 | a0006c0006t0002a0006c0006t0003a0006c0006t0009others(2): Show | a0006c0006t0002g0036a0006c0006t0002g0037a0006c0006t0002g0270others(28): Show | 34 | 436 | 0.0780 | 0 | c.343 others(3): Show |
p.Arg others(4): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 3/14 | 512/2894 | 343/1734 | 115/577 | chr16 | TogoVar | ||
ACTN3_chr11_66541903_66568334 | 66560624 | C | T | stop_gained | HIGH | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(147): Show |
a0002a0011a0013others(1): Show | a0002c0002a0002c0008a0002c0011others(7): Show | a0002c0002t0001a0002c0002t0003a0002c0008t0001others(8): Show | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0010others(67): Show | 150 | 400 | 0.3750 | 0 | c.172 others(4): Show |
p.Arg others(4): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 15/21 | 1764/2882 | 1729/2706 | 577/901 | chr11 | TogoVar | ||
ALDH3B2_chr11_67657155_67679623 | 67674435 | A | C | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(370): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0007a0001c0009others(23): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(37): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(194): Show | 373 | 390 | 0.9564 | 0 | c.-24 others(6): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
AMOT_chrX_112769877_112845831 | 112791845 | AG | A | frameshift_variant | HIGH | NA18956.hp1 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0255 | 1 | 270 | 0.0037 | -1 | c.191 others(5): Show |
p.Leu others(5): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 9/14 | 2580/7613 | 1912/3255 | 638/1084 | chrX | TogoVar | ||
AMOT_chrX_112769877_112845831 | 112791863 | T | TC | frameshift_variant | HIGH | NA18956.hp1 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0255 | 1 | 270 | 0.0037 | 1 | c.189 others(5): Show |
p.Glu others(5): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 9/14 | 2562/7613 | 1894/3255 | 632/1084 | chrX | TogoVar | ||
ANXA1_chr9_73146865_73175393 | 73159367 | C | T | stop_gained | HIGH | NA18956.hp2 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0088 | 1 | 428 | 0.0023 | 0 | c.214 others(3): Show |
p.Arg others(3): Show |
ANXA1 | ENSG00000135046.14 | transcript | ENST00000257497.11 | protein_coding | 4/13 | 288/1401 | 214/1041 | 72/346 | chr9 | TogoVar | ||
ARC_chr8_142606049_142619479 | 142613744 | C | CG | frameshift_variant | HIGH | HG00408.hp1 HG01099.hp2 HG01192.hp1 others(7): Show |
a0002 | a0002c0003a0002c0008 | a0002c0003t0001a0002c0003t0002a0002c0008t0003 | a0002c0003t0001g0010a0002c0003t0002g0018a0002c0008t0003g0020 | 10 | 420 | 0.0238 | 1 | c.527 others(4): Show |
p.Pro others(5): Show |
ARC | ENSG00000198576.4 | transcript | ENST00000356613.4 | protein_coding | 1/3 | 735/2950 | 527/1191 | 176/396 | chr8 | TogoVar | ||
ATXN2L_chr16_28817999_28842232 | 28823252 | CTGCCATC others(5): Show |
C | start_lost others(1): Show |
HIGH | NA18956.hp2 | a0002 | a0002c0028 | a0002c0028t0009 | a0002c0028t0009g0062 | 1 | 382 | 0.0026 | -12 | c.-7_ others(16): Show |
p.Met others(9): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 1/22 | 255/4456 | 1/3228 | 1/1075 | chr16 | TogoVar | ||
ATXN3_chr14_92053552_92111582 | 92071034 | G | GCTGCTGC others(36): Show |
frameshift_variant | HIGH | NA18956.hp2 | a0037 | a0037c0059 | a0037c0059t0002 | a0037c0059t0002g0280 | 1 | 402 | 0.0025 | 43 | c.891 others(50): Show |
p.Gln others(5): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 10/11 | 921/6884 | 891/1086 | 297/361 | chr14 | TogoVar | ||
AVPI1_chr10_97672424_97692241 | 97679916 | C | G | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(98): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0009others(48): Show | 101 | 446 | 0.2265 | 0 | c.-10 others(5): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 1/2 | chr10 | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40055510 | AG | A | frameshift_variant others(1): Show |
HIGH | NA18956.hp1 | a0010 | a0010c0013 | a0010c0013t0001 | a0010c0013t0001g0103 | 1 | 257 | 0.0039 | -1 | c.459 others(5): Show |
p.Pro others(6): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 12/15 | 5382/6910 | 4598/5268 | 1533/1755 | chrX | TogoVar | ||
BCOR_chrX_40046251_40102958 | 40057167 | TG | T | frameshift_variant | HIGH | NA18956.hp1 | a0010 | a0010c0013 | a0010c0013t0001 | a0010c0013t0001g0103 | 1 | 257 | 0.0039 | -1 | c.458 others(5): Show |
p.Gln others(6): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 11/15 | 5366/6910 | 4582/5268 | 1528/1755 | chrX | TogoVar | ||
BCOR_chrX_40046251_40102958 | 40062882 | AG | A | frameshift_variant | HIGH | NA18956.hp2 | a0008 | a0008c0015 | a0008c0015t0001 | a0008c0015t0001g0161 | 1 | 257 | 0.0039 | -1 | c.403 others(5): Show |
p.Leu others(6): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 9/15 | 4820/6910 | 4036/5268 | 1346/1755 | chrX | TogoVar | ||
BRIX1_chr5_34910711_34930996 | 34925207 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp1 HG01070.hp1 HG01081.hp1 others(77): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(26): Show | 80 | 440 | 0.1818 | 1 | c.793 others(6): Show |
BRIX1 | ENSG00000113460.13 | transcript | ENST00000336767.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CAPN15_chr16_522712_559636 | 536144 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00639.hp1 HG01069.hp2 HG01070.hp2 others(43): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(29): Show | a0001c0001t0001g0017a0001c0001t0001g0350a0001c0001t0001g0362others(41): Show | 46 | 410 | 0.1122 | 0 | c.-23 others(5): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | chr16 | TogoVar | ||||||
CBARP_chr19_1223287_1243005 | 1229727 | C | CG | frameshift_variant | HIGH | HG01496.hp1 HG02056.hp1 HG02602.hp2 others(8): Show |
a0000 | a0000c0008a0000c0009a0000c0012others(1): Show | a0000c0008t0001a0000c0008t0004a0000c0009t0002others(4): Show | a0000c0008t0001g0081a0000c0008t0001g0111a0000c0008t0004g0113others(7): Show | 11 | 408 | 0.0270 | 1 | c.156 others(5): Show |
p.Ala others(5): Show |
CBARP | ENSG00000099625.14 | transcript | ENST00000650044.2 | protein_coding | 10/10 | 1840/3281 | 1569/2118 | 523/705 | chr19 | TogoVar | ||
CCDC197_chr14_93992301_94013863 | 93999587 | A | T | stop_gained | HIGH | NA18956.hp2 | a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0001 | 1 | 393 | 0.0025 | 0 | c.109 others(3): Show |
p.Lys others(3): Show |
CCDC197 | ENSG00000175699.15 | transcript | ENST00000636493.2 | protein_coding | 3/7 | 513/1274 | 109/819 | 37/272 | chr14 | TogoVar | ||
CCDC198_chr14_57464300_57498857 | 57481662 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(258): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(133): Show | 261 | 362 | 0.7210 | 0 | c.394 others(5): Show |
CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 3/5 | chr14 | TogoVar | ||||||
CD36_chr7_80633642_80684274 | 80673379 | CTATATTG others(7): Show |
C | frameshift_variant | HIGH | NA18956.hp1 NA18978.hp1 |
a0004 | a0004c0007 | a0004c0007t0004 | a0004c0007t0004g0071a0004c0007t0004g0074 | 2 | 392 | 0.0051 | -14 | c.122 others(23): Show |
p.Tyr others(5): Show |
CD36 | ENSG00000135218.19 | transcript | ENST00000447544.7 | protein_coding | 13/15 | 1514/4598 | 1226/1419 | 409/472 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
CD40_chr20_46113314_46134858 | 46128304 | C | CTTT | splice_acceptor_variant others(1): Show |
HIGH | HG01433.hp1 HG02145.hp1 HG03927.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0054a0001c0001t0001g0055a0001c0001t0001g0061others(6): Show | 15 | 416 | 0.0361 | 3 | c.647 others(14): Show |
CD40 | ENSG00000101017.15 | transcript | ENST00000372285.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CENPVL3_chrX_51612020_51623912 | 51618703 | CT | C | frameshift_variant | HIGH | NA18956.hp2 | a0000 | a0000c0006 | a0000c0006t0009 | a0000c0006t0009g0000 | 1 | 298 | 0.0034 | -1 | c.170 others(4): Show |
p.Lys others(4): Show |
CENPVL3 | ENSG00000224109.4 | transcript | ENST00000417339.4 | protein_coding | 1/1 | 209/1893 | 170/819 | 57/272 | chrX | TogoVar | ||
CFAP73_chr12_113144724_113164276 | 113154501 | G | GC | frameshift_variant | HIGH | NA18939.hp2 NA18956.hp2 NA19010.hp1 others(3): Show |
a0003a0005 | a0003c0003a0005c0008 | a0003c0003t0001a0005c0008t0001 | a0003c0003t0001g0012a0005c0008t0001g0069 | 6 | 326 | 0.0184 | 1 | c.557 others(4): Show |
p.Glu others(5): Show |
CFAP73 | ENSG00000186710.12 | transcript | ENST00000335621.11 | protein_coding | 5/8 | 692/1648 | 558/927 | 186/308 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
CFAP90_chr5_7825378_7856133 | 7835432 | G | A | stop_gained | HIGH | HG02132.hp2 NA18939.hp2 NA18946.hp1 others(13): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0003a0003c0003t0001g0083a0003c0003t0001g0091 | 16 | 420 | 0.0381 | 0 | c.214 others(3): Show |
p.Arg others(3): Show |
CFAP90 | ENSG00000215217.7 | transcript | ENST00000399810.7 | protein_coding | 2/3 | 326/2028 | 214/444 | 72/147 | chr5 | TogoVar | ||
CHIT1_chr1_203211079_203234673 | 203217822 | C | CAGACCAT others(17): Show |
stop_gained others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(172): Show |
a0001a0009a0013others(5): Show | a0001c0001a0001c0022a0001c0025others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0022t0001others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(41): Show | 175 | 484 | 0.3616 | 24 | c.104 others(33): Show |
p.Val others(37): Show |
CHIT1 | ENSG00000133063.16 | transcript | ENST00000367229.6 | protein_coding | 10/11 | 1109/2248 | 1072/1401 | 358/466 | chr1 | TogoVar | ||
CHRNA10_chr11_3660587_3676384 | 3669794 | A | C | splice_donor_variant others(1): Show |
HIGH | NA18956.hp2 NA18989.hp2 |
a0001a0007 | a0001c0001a0007c0019 | a0001c0001t0001a0007c0019t0001 | a0001c0001t0001g0047a0007c0019t0001g0054 | 2 | 450 | 0.0044 | 0 | c.207 others(5): Show |
CHRNA10 | ENSG00000129749.3 | transcript | ENST00000250699.2 | protein_coding | 2/4 | chr11 | TogoVar | ||||||
CNKSR1_chr1_26172491_26194884 | 26185173 | A | AC | frameshift_variant | HIGH | HG00438.hp1 HG00738.hp2 HG01109.hp1 others(10): Show |
a0004a0014a0015 | a0004c0005a0004c0017a0014c0014others(1): Show | a0004c0005t0001a0004c0005t0002a0004c0017t0001others(2): Show | a0004c0005t0001g0001a0004c0005t0001g0002a0004c0005t0001g0004others(9): Show | 13 | 372 | 0.0350 | 1 | c.129 others(5): Show |
p.Arg others(5): Show |
CNKSR1 | ENSG00000142675.18 | transcript | ENST00000361530.11 | protein_coding | 14/21 | 1355/2535 | 1298/2142 | 433/713 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
COLGALT1_chr19_17550649_17588157 | 17577397 | C | CG | frameshift_variant | HIGH | HG01099.hp2 HG01109.hp1 NA18956.hp2 others(5): Show |
a0002 | a0002c0006a0002c0010a0002c0014 | a0002c0006t0001a0002c0006t0009a0002c0006t0014others(5): Show | a0002c0006t0001g0209a0002c0006t0009g0157a0002c0006t0014g0198others(5): Show | 8 | 396 | 0.0202 | 1 | c.106 others(5): Show |
p.Glu others(5): Show |
COLGALT1 | ENSG00000130309.12 | transcript | ENST00000252599.9 | protein_coding | 8/12 | 1132/3647 | 1067/1869 | 356/622 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
CSE1L_chr20_49041312_49101949 | 49068771 | GTTTTCTT others(19): Show |
G | frameshift_variant | HIGH | NA18956.hp1 | a0006 | a0006c0004 | a0006c0004t0002 | a0006c0004t0002g0046 | 1 | 386 | 0.0026 | -26 | c.625 others(33): Show |
p.Phe others(5): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 7/25 | 748/3550 | 625/2916 | 209/971 | chr20 | 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 | ||||||
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 | ||
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 | |
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 | 122601959 | TGTCAGCC others(12170): Show |
T | exon_loss_variant | HIGH | NA18956.hp2 NA18981.hp1 NA18983.hp2 |
a0029a0089 | a0029c0029a0089c0047 | a0029c0029t0002a0089c0047t0002 | a0029c0029t0002g0150a0029c0029t0002g0259a0089c0047t0002g0045 | 3 | 282 | 0.0106 | -12177 | c.366 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | INFO_REALIGN_3_PRIME | chr10 | 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 | ||
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 | |
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 | |
EDDM13_chr19_56267748_56315454 | 56282492 | GCTGAAAG others(294): Show |
G | splice_donor_variant others(3): Show |
HIGH | NA18956.hp2 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0291 | 1 | 396 | 0.0025 | -301 | c.116 others(11): Show |
p.Lys others(17): Show |
EDDM13 | ENSG00000267710.9 | transcript | ENST00000649256.2 | protein_coding | 4/15 | 203/879 | 116/486 | 39/161 | INFO_REALIGN_3_PRIME | chr19 | 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 | ||
FAM228B_chr2_24118469_24174638 | 24164308 | GC | G | frameshift_variant | HIGH | HG00140.hp1 HG00323.hp2 HG00642.hp1 others(17): Show |
a0003 | a0003c0004a0003c0013 | a0003c0004t0001a0003c0013t0002 | a0003c0004t0001g0093a0003c0004t0001g0095a0003c0004t0001g0096others(17): Show | 20 | 290 | 0.0690 | -1 | c.907 others(4): Show |
p.Gln others(5): Show |
FAM228B | ENSG00000219626.9 | transcript | ENST00000615575.5 | protein_coding | 9/11 | 1004/1369 | 907/975 | 303/324 | INFO_REALIGN_3_PRIME | chr2 | 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 | ||||||
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 | |
FOXD4_chr9_111231_123417 | 116800 | C | G | stop_lost | HIGH | HG00423.hp1 HG00544.hp1 HG00639.hp1 others(105): Show |
a0000 | a0000c0002a0000c0006a0000c0016others(5): Show | a0000c0002t0001a0000c0002t0002a0000c0002t0009others(9): Show | a0000c0002t0001g0000a0000c0002t0002g0000a0000c0002t0009g0000others(9): Show | 108 | 452 | 0.2389 | 0 | c.132 others(4): Show |
p.Ter others(11): Show |
FOXD4 | ENSG00000170122.6 | transcript | ENST00000382500.4 | protein_coding | 1/1 | 1618/2187 | 1320/1320 | 440/439 | chr9 | TogoVar | ||
FSBP_chr8_94422716_94441944 | 94432600 | TCCAACAT others(3): Show |
T | frameshift_variant | HIGH | NA18956.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0042 | 1 | 428 | 0.0023 | -10 | c.421 others(17): Show |
p.Val others(5): Show |
FSBP | ENSG00000265817.4 | transcript | ENST00000481490.3 | protein_coding | 2/2 | 506/5391 | 421/900 | 141/299 | chr8 | TogoVar | ||
FTSJ1_chrX_48471199_48491350 | 48482638 | G | GC | frameshift_variant | HIGH | NA18956.hp1 NA19006.hp1 NA19055.hp1 |
a0003a0004a0005 | a0003c0006a0004c0007a0005c0008 | a0003c0006t0013a0004c0007t0001a0005c0008t0008 | a0003c0006t0013g0025a0004c0007t0001g0069a0005c0008t0008g0029 | 3 | 308 | 0.0097 | 1 | c.807 others(4): Show |
p.Ile others(5): Show |
FTSJ1 | ENSG00000068438.15 | transcript | ENST00000348411.3 | protein_coding | 11/13 | 1093/1899 | 808/990 | 270/329 | INFO_REALIGN_3_PRIME | chrX | TogoVar |