view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DHX37_chr12_124941826_124994131 | 124953046 | AATGGCAG others(27): Show |
A | intron_variant | MODIFIER | NA18981.hp1 | a0011 | a0011c0045 | a0011c0045t0001 | a0011c0045t0001g0075 | 1 | 368 | 0.0027 | -34 | c.269 others(51): Show |
DHX37 | ENSG00000150990.9 | transcript | ENST00000308736.7 | protein_coding | 20/26 | chr12 | TogoVar | |||||||
DHX37_chr12_124941826_124994131 | 124961154 | ACACACAC others(27): Show |
A | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0201 | 1 | 368 | 0.0027 | -34 | c.204 others(51): Show |
DHX37 | ENSG00000150990.9 | transcript | ENST00000308736.7 | protein_coding | 15/26 | chr12 | TogoVar | |||||||
DHX57_chr2_38792729_38880934 | 38844629 | CAAAAAAA others(27): Show |
C | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0183 | 1 | 235 | 0.0043 | -34 | c.222 others(53): Show |
DHX57 | ENSG00000163214.21 | transcript | ENST00000457308.6 | protein_coding | 11/23 | chr2 | TogoVar | |||||||
DIP2B_chr12_50499985_50753657 | 50579642 | AAAATATA others(27): Show |
A | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0275 | 1 | 264 | 0.0038 | -34 | c.101 others(53): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50579644 | AATATATA others(27): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG02129.hp2 HG02293.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0011 | a0001c0001t0001a0001c0001t0010a0001c0003t0002others(1): Show | a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0136 others(7): Show |
10 | 214 | 0.0467 | -34 | c.101 others(53): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50741409 | CTGTCAGA others(27): Show |
C | frameshift_variant others(3): Show |
HIGH | NA20905.hp2 | a0010 | a0010c0014 | a0010c0014t0004 | a0010c0014t0004g0224 | 1 | 282 | 0.0035 | -34 | c.435 others(45): Show |
p.His others(6): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 37/38 | 4355/4731 | 1452/1576 | chr12 | TogoVar | ||||
DIP2C_chr10_269201_694668 | 295560 | CAAAAAAA others(27): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG00738.hp1 HG00738.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0022 others(25): Show |
28 | 60 | 0.4667 | -34 | c.398 others(53): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 32/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 380127 | GCAGAAGA others(27): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG01515.hp1 HG01952.hp2 others(7): Show |
a0001 | a0001c0001a0001c0005a0001c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0022 a0001c0001t0003g0075 a0001c0001t0004g0019 others(7): Show |
10 | 88 | 0.1136 | -34 | c.199 others(53): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 17/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 532652 | AGAGAGAG others(27): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG02717.hp2 HG03225.hp2 others(1): Show |
a0001 | a0001c0001a0001c0015a0001c0016 | a0001c0001t0001a0001c0015t0002a0001c0016t0009 | a0001c0001t0001g0014 a0001c0001t0001g0072 a0001c0015t0002g0082 others(1): Show |
4 | 88 | 0.0455 | -34 | c.86- others(51): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 679420 | CGCGCCCA others(27): Show |
C | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0016 | a0001c0016t0009 | a0001c0016t0009g0073 | 1 | 88 | 0.0114 | -34 | c.85+ others(51): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DIPK2B_chrX_45143373_45205876 | 45173498 | TCTTTCTT others(27): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(104): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0004 a0001c0001t0001g0116 a0001c0001t0001g0198 others(95): Show |
107 | 305 | 0.3508 | -34 | c.499 others(53): Show |
DIPK2B | ENSG00000147113.17 | transcript | ENST00000398000.7 | protein_coding | 2/4 | chrX | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13188813 | ATATATAT others(27): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG03654.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0037 | a0002c0002t0001g0073 a0002c0002t0037g0085 |
2 | 209 | 0.0096 | -34 | c.134 others(55): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13188815 | ATATATAT others(27): Show |
A | intron_variant | MODIFIER | HG01256.hp1 HG02630.hp2 HG02683.hp1 others(2): Show |
a0001a0002a0010others(1): Show | a0001c0001a0002c0006a0010c0022others(1): Show | a0001c0001t0003a0002c0006t0031a0010c0022t0004others(1): Show | a0001c0001t0003g0055 a0001c0001t0003g0090 a0002c0006t0031g0087 others(2): Show |
5 | 208 | 0.0240 | -34 | c.134 others(55): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13188817 | ATATATAT others(27): Show |
A | intron_variant | MODIFIER | HG00735.hp2 | a0009 | a0009c0018 | a0009c0018t0019 | a0009c0018t0019g0001 | 1 | 204 | 0.0049 | -34 | c.134 others(55): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13188821 | ATATATGT others(27): Show |
A | intron_variant | MODIFIER | HG00280.hp1 | a0002 | a0002c0006 | a0002c0006t0008 | a0002c0006t0008g0052 | 1 | 198 | 0.0051 | -34 | c.134 others(55): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | |||||||
DLG2_chr11_83450173_85632344 | 83503390 | TATATATA others(27): Show |
T | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0014 | 1 | 14 | 0.0714 | -34 | c.219 others(55): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 21/27 | chr11 | TogoVar | |||||||
DLG5_chr10_77785791_77931755 | 77800457 | AGGGCCGC others(27): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG03516.hp1 |
a0001 | a0001c0025 | a0001c0025t0003 | a0001c0025t0003g0143 a0001c0025t0003g0172 |
2 | 330 | 0.0061 | -34 | c.516 others(53): Show |
DLG5 | ENSG00000151208.17 | transcript | ENST00000372391.7 | protein_coding | 27/31 | chr10 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 785663 | CTCCCTCC others(27): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0035 | 1 | 39 | 0.0256 | -34 | c.18+ others(51): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 785784 | CCCTCTGA others(27): Show |
C | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0003 | a0001c0003t0017 | a0001c0003t0017g0004 | 1 | 40 | 0.0250 | -34 | c.18+ others(51): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1014076 | CGATGCCT others(27): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0020 | 1 | 35 | 0.0286 | -34 | c.73+ others(53): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1330970 | CGGGACTG others(27): Show |
C | intron_variant | MODIFIER | HG01071.hp2 | a0002 | a0002c0001 | a0002c0001t0011 | a0002c0001t0011g0002 | 1 | 40 | 0.0250 | -34 | c.106 others(53): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP4_chr20_36301339_36533633 | 36317261 | TTCTTTCT others(27): Show |
T | intron_variant | MODIFIER | HG02258.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0115 a0001c0001t0002g0121 |
2 | 133 | 0.0150 | -34 | c.-30 others(55): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DLL4_chr15_40924340_40944073 | 40942515 | CGCTAACT others(27): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp2 others(184): Show |
a0001a0004a0005 | a0001c0001a0001c0004a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(56): Show |
187 | 362 | 0.5166 | -34 | c.*44 others(45): Show |
DLL4 | ENSG00000128917.8 | transcript | ENST00000249749.7 | protein_coding | 3443 | chr15 | TogoVar | |||||||
DMBT1_chr10_122555754_122648736 | 122634402 | TTTCTTTC others(27): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG02109.hp1 HG03130.hp1 |
a0003a0013 | a0003c0003a0013c0015 | a0003c0003t0001a0013c0015t0001 | a0003c0003t0001g0014 a0013c0015t0001g0009 |
3 | 272 | 0.0110 | -34 | c.654 others(53): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 52/55 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122634428 | TCTTCTCT others(27): Show |
T | intron_variant | MODIFIER | NA19077.hp1 | a0002 | a0002c0007 | a0002c0007t0004 | a0002c0007t0004g0224 | 1 | 259 | 0.0039 | -34 | c.654 others(53): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 52/55 | chr10 | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31187717 | CAGAGAGA others(27): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG01256.hp1 HG01358.hp1 others(16): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0002c0005others(10): Show | a0001c0001t0003a0001c0001t0010a0001c0002t0001others(14): Show | a0001c0001t0003g0016 a0001c0001t0010g0008 a0001c0002t0001g0047 others(16): Show |
19 | 31 | 0.6129 | -34 | c.980 others(53): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 67/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31347012 | AAAAAAAA others(27): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02895.hp1 HG03130.hp1 |
a0001a0002a0014 | a0001c0001a0002c0058a0014c0050 | a0001c0001t0006a0002c0058t0003a0014c0050t0009 | a0001c0001t0006g0097 a0002c0058t0003g0051 a0014c0050t0009g0123 |
3 | 126 | 0.0238 | -34 | c.916 others(53): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 61/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32854534 | CAGTACTA others(27): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG02040.hp1 HG02129.hp1 others(3): Show |
a0001a0004a0007others(2): Show | a0001c0002a0004c0012a0007c0018others(2): Show | a0001c0002t0001a0004c0012t0001a0007c0018t0001others(2): Show | a0001c0002t0001g0054 a0001c0002t0001g0085 a0004c0012t0001g0064 others(3): Show |
6 | 126 | 0.0476 | -34 | c.94- others(49): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 33009579 | CATATGTG others(27): Show |
C | intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0051 | a0002c0051t0003 | a0002c0051t0003g0091 | 1 | 126 | 0.0079 | -34 | c.93+ others(51): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMP1_chr4_87645280_87669357 | 87653386 | GATATATA others(27): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02723.hp2 others(14): Show |
a0001a0005 | a0001c0002a0001c0009a0005c0007 | a0001c0002t0008a0001c0002t0009a0001c0002t0010others(3): Show | a0001c0002t0008g0048 a0001c0002t0008g0125 a0001c0002t0009g0012 others(7): Show |
17 | 100 | 0.1700 | -34 | c.-22 others(51): Show |
DMP1 | ENSG00000152592.15 | transcript | ENST00000339673.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DMRT3_chr9_971655_996732 | 987412 | CTGTGTGT others(27): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02895.hp2 others(5): Show |
a0001a0005 | a0001c0028a0005c0007 | a0001c0028t0002a0005c0007t0002a0005c0007t0004others(1): Show | a0001c0028t0002g0162 a0005c0007t0002g0163 a0005c0007t0004g0015 others(1): Show |
8 | 26 | 0.3077 | -34 | c.455 others(51): Show |
DMRT3 | ENSG00000064218.5 | transcript | ENST00000190165.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55166806 | GGAAGGGG others(27): Show |
G | upstream_gene_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 396 | 0.0025 | -34 | c.-32 others(43): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 194 | chr19 | TogoVar | |||||||
DNAAF5_chr7_721699_791475 | 726061 | TAGCCAGT others(27): Show |
T | upstream_gene_variant | MODIFIER | HG03579.hp2 NA19030.hp1 |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0005 | a0003c0003t0001g0335 a0003c0003t0005g0334 |
2 | 8 | 0.2500 | -34 | c.-65 others(43): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 637 | chr7 | TogoVar | |||||||
DNAAF5_chr7_721699_791475 | 760056 | CGAGGGAG others(27): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(248): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0004a0002c0002others(19): Show | a0001c0001t0003a0001c0004t0001a0002c0002t0001others(30): Show | a0001c0001t0003g0318 a0001c0004t0001g0004 a0001c0004t0001g0031 others(224): Show |
251 | 376 | 0.6676 | -34 | c.147 others(53): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57306479 | ACTATTCC others(27): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0018 | a0018c0030 | a0018c0030t0001 | a0018c0030t0001g0147 | 1 | 264 | 0.0038 | -34 | c.111 others(55): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | |||||||
DNAH14_chr1_224924675_225404286 | 225175739 | TGTCCCCC others(27): Show |
T | intron_variant | MODIFIER | HG02818.hp2 | a0068 | a0068c0116 | a0068c0116t0001 | a0068c0116t0001g0240 | 1 | 238 | 0.0042 | -34 | c.553 others(53): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 36/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225278102 | CTTATTTA others(27): Show |
C | intron_variant | MODIFIER | HG01258.hp2 HG01891.hp2 HG02145.hp2 others(8): Show |
a0007a0018a0064others(3): Show | a0007c0007a0018c0012a0064c0058others(3): Show | a0007c0007t0001a0018c0012t0001a0064c0058t0001others(3): Show | a0007c0007t0001g0003 a0007c0007t0001g0010 a0007c0007t0001g0011 others(8): Show |
11 | 237 | 0.0464 | -34 | c.827 others(51): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 54/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225335180 | CGCATGTG others(27): Show |
C | intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 HG03927.hp1 others(1): Show |
a0034a0085a0093 | a0034c0035a0085c0096a0093c0070 | a0034c0035t0001a0085c0096t0001a0093c0070t0001 | a0034c0035t0001g0089 a0034c0035t0001g0090 a0085c0096t0001g0107 others(1): Show |
4 | 238 | 0.0168 | -34 | c.100 others(55): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78463403 | CACGCATT others(27): Show |
C | intron_variant | MODIFIER | HG03486.hp1 NA20300.hp1 |
a0103a0137 | a0103c0195a0137c0108 | a0103c0195t0001a0137c0108t0001 | a0103c0195t0001g0242 a0137c0108t0001g0069 |
2 | 250 | 0.0080 | -34 | c.894 others(51): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 56/80 | chr17 | TogoVar | |||||||
DNAH2_chr17_7712744_7838742 | 7832345 | TAAAAAAA others(27): Show |
T | intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0038 | a0002c0038t0001 | a0002c0038t0001g0237 | 1 | 314 | 0.0032 | -34 | c.127 others(53): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 82/85 | chr17 | TogoVar | |||||||
DNAH7_chr2_195732703_196073837 | 195740601 | GTGTGTGT others(27): Show |
G | intron_variant | MODIFIER | HG06807.hp2 | a0043 | a0043c0027 | a0043c0027t0001 | a0043c0027t0001g0024 | 1 | 228 | 0.0044 | -34 | c.118 others(53): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 64/64 | chr2 | TogoVar | |||||||
DNAH7_chr2_195732703_196073837 | 195740605 | GTGTGTGT others(27): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG02723.hp1 HG02886.hp2 others(1): Show |
a0018a0041 | a0018c0018a0041c0026 | a0018c0018t0001a0041c0026t0001 | a0018c0018t0001g0031 a0018c0018t0001g0033 a0018c0018t0001g0034 others(1): Show |
4 | 242 | 0.0165 | -34 | c.118 others(53): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 64/64 | chr2 | TogoVar | |||||||
DNAH9_chr17_11593470_11974748 | 11694836 | CTTTCCTT others(27): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02080.hp2 HG02165.hp1 others(3): Show |
a0002a0008a0019others(1): Show | a0002c0009a0002c0114a0002c0123others(3): Show | a0002c0009t0001a0002c0114t0001a0002c0123t0001others(3): Show | a0002c0009t0001g0119 a0002c0114t0001g0031 a0002c0123t0001g0098 others(3): Show |
6 | 176 | 0.0341 | -34 | c.487 others(51): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 22/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11707990 | CACACACA others(27): Show |
C | intron_variant | MODIFIER | HG01261.hp2 HG02165.hp1 HG02523.hp2 others(1): Show |
a0002a0007 | a0002c0005a0002c0008a0002c0114others(1): Show | a0002c0005t0001a0002c0008t0001a0002c0114t0001others(1): Show | a0002c0005t0001g0081 a0002c0008t0001g0039 a0002c0114t0001g0031 others(1): Show |
4 | 157 | 0.0255 | -34 | c.555 others(53): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 26/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11708000 | CACACACA others(27): Show |
C | intron_variant | MODIFIER | HG02109.hp1 | a0031 | a0031c0084 | a0031c0084t0001 | a0031c0084t0001g0169 | 1 | 168 | 0.0060 | -34 | c.555 others(53): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 26/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAJB12_chr10_72327863_72359919 | 72356829 | GATATATA others(27): Show |
G | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01243.hp2 HG02559.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0003a0003c0006t0003 | a0001c0001t0003g0023 a0003c0006t0003g0024 |
4 | 12 | 0.3333 | -34 | c.-19 others(45): Show |
DNAJB12 | ENSG00000148719.16 | transcript | ENST00000444643.8 | protein_coding | 1911 | chr10 | TogoVar | |||||||
DNAJB2_chr2_219274366_219291895 | 219290313 | GGTAGGAT others(27): Show |
G | downstream_gene_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | -34 | c.*53 others(45): Show |
DNAJB2 | ENSG00000135924.17 | transcript | ENST00000336576.10 | protein_coding | 3419 | chr2 | TogoVar | |||||||
DNAJB6_chr7_157332004_157422439 | 157393757 | CGGGGTGC others(27): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0105 a0001c0001t0003g0128 |
2 | 370 | 0.0054 | -34 | c.691 others(51): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAJC13_chr3_132412502_132544032 | 132498232 | ACTTTAAG others(27): Show |
A | intron_variant | MODIFIER | HG01934.hp2 HG01975.hp1 HG02273.hp1 |
a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0029 a0002c0006t0001g0042 a0002c0006t0001g0173 |
3 | 316 | 0.0095 | -34 | c.415 others(51): Show |
DNAJC13 | ENSG00000138246.17 | transcript | ENST00000260818.11 | protein_coding | 36/55 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DNAJC1_chr10_21751548_22008730 | 21813150 | GTCTCTCT others(27): Show |
G | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 159 | 0.0063 | -34 | c.979 others(51): Show |
DNAJC1 | ENSG00000136770.11 | transcript | ENST00000376980.8 | protein_coding | 8/11 | chr10 | TogoVar |