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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DHX37_chr12_124941826_124994131 | 124953046 | AATGGCAG others(27): Show |
A | intron_variant | MODIFIER | NA18981.hp1 | a0009 | a0009c0045 | a0009c0045t0001 | a0009c0045t0001g0073 | 1 | 370 | 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 | a0001c0002t0002g0194 | 1 | 370 | 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 | a0001c0003t0001g0182 | 1 | 284 | 0.0035 | -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 | 284 | 0.0035 | -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 | a0001c0001t0001g0115a0001c0001t0001g0119a0001c0001t0001g0136others(7): Show | 10 | 284 | 0.0352 | -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 | a0008 | a0008c0014 | a0008c0014t0004 | a0008c0014t0004g0225 | 1 | 284 | 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 | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0022others(25): Show | 28 | 88 | 0.3182 | -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 | a0001c0001t0001g0022a0001c0001t0003g0075a0001c0001t0004g0015others(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 | a0001c0001t0001g0008a0001c0001t0001g0072a0001c0015t0002g0083others(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(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0017a0001c0001t0001g0114a0001c0001t0001g0210others(98): Show | 107 | 307 | 0.3485 | -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 | a0002c0002t0001g0074a0002c0002t0037g0084 | 2 | 212 | 0.0094 | -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 | a0001c0001t0003g0055a0001c0001t0003g0089a0002c0006t0031g0086others(2): Show | 5 | 212 | 0.0236 | -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 | 212 | 0.0047 | -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 | a0002c0006t0008g0054 | 1 | 212 | 0.0047 | -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 | a0001c0025t0003g0147a0001c0025t0003g0173 | 2 | 331 | 0.0060 | -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 | 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 | 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 | 40 | 0.0250 | -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 | a0002c0001t0011g0001 | 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 | a0001c0001t0001g0115a0001c0001t0002g0121 | 2 | 144 | 0.0139 | -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(185): Show |
a0001a0004a0005 | a0001c0001a0001c0004a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(56): Show | 188 | 370 | 0.5081 | -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 |
a0003a0016 | a0003c0005a0016c0018 | a0003c0005t0001a0016c0018t0001 | a0003c0005t0001g0094a0016c0018t0001g0005 | 3 | 282 | 0.0106 | -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 | a0010 | a0010c0008 | a0010c0008t0004 | a0010c0008t0004g0242 | 1 | 282 | 0.0036 | -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 | a0001c0001t0008a0001c0001t0013a0001c0002t0001others(14): Show | a0001c0001t0008g0021a0001c0001t0013g0012a0001c0002t0001g0051others(16): Show | 19 | 126 | 0.1508 | -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 |
a0001a0002a0010 | a0001c0001a0002c0059a0010c0051 | a0001c0001t0004a0002c0059t0012a0010c0051t0011 | a0001c0001t0004g0101a0002c0059t0012g0055a0010c0051t0011g0121 | 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 | a0001c0002a0004c0011a0007c0018others(2): Show | a0001c0002t0001a0004c0011t0001a0007c0018t0001others(2): Show | a0001c0002t0001g0058a0001c0002t0001g0088a0004c0011t0001g0085others(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 | a0002c0052 | a0002c0052t0025 | a0002c0052t0025g0095 | 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 | a0001c0002t0008g0048a0001c0002t0008g0124a0001c0002t0009g0012others(7): Show | 17 | 430 | 0.0395 | -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 | a0001c0028t0002g0164a0005c0007t0002g0165a0005c0007t0004g0015others(1): Show | 8 | 458 | 0.0175 | -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 | a0001c0001t0001g0143 | 1 | 398 | 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 | a0003c0003t0001g0339a0003c0003t0005g0338 | 2 | 378 | 0.0053 | -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 | a0001c0001t0003g0320a0001c0004t0001g0027a0001c0004t0001g0028others(227): Show | 251 | 378 | 0.6640 | -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 | a0019 | a0019c0030 | a0019c0030t0001 | a0019c0030t0001g0147 | 1 | 266 | 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 | a0111 | a0111c0119 | a0111c0119t0001 | a0111c0119t0001g0240 | 1 | 240 | 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 |
a0008a0015a0059others(3): Show | a0008c0007a0015c0012a0059c0057others(3): Show | a0008c0007t0001a0015c0012t0001a0059c0057t0001others(3): Show | a0008c0007t0001g0003a0008c0007t0001g0010a0008c0007t0001g0011others(8): Show | 11 | 240 | 0.0458 | -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 |
a0021a0048a0087 | a0021c0034a0048c0071a0087c0097 | a0021c0034t0001a0048c0071t0001a0087c0097t0001 | a0021c0034t0001g0089a0021c0034t0001g0090a0048c0071t0001g0037others(1): Show | 4 | 240 | 0.0167 | -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 |
a0070a0138 | a0070c0108a0138c0195 | a0070c0108t0001a0138c0195t0001 | a0070c0108t0001g0076a0138c0195t0001g0242 | 2 | 252 | 0.0079 | -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 | 316 | 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 | a0048 | a0048c0027 | a0048c0027t0001 | a0048c0027t0001g0023 | 1 | 256 | 0.0039 | -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 |
a0018a0049 | a0018c0018a0049c0026 | a0018c0018t0001a0049c0026t0001 | a0018c0018t0001g0030a0018c0018t0001g0032a0018c0018t0001g0033others(1): Show | 4 | 256 | 0.0156 | -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 |
a0002a0010a0013others(1): Show | a0002c0009a0002c0114a0002c0123others(3): Show | a0002c0009t0001a0002c0114t0001a0002c0123t0001others(3): Show | a0002c0009t0001g0119a0002c0114t0001g0031a0002c0123t0001g0098others(3): Show | 6 | 178 | 0.0337 | -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 | a0002c0005t0001g0081a0002c0008t0001g0039a0002c0114t0001g0031others(1): Show | 4 | 178 | 0.0225 | -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 | a0052 | a0052c0084 | a0052c0084t0001 | a0052c0084t0001g0169 | 1 | 178 | 0.0056 | -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 | a0001c0001t0003g0023a0003c0006t0003g0024 | 4 | 292 | 0.0137 | -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 | 426 | 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 | a0001c0001t0001g0135a0001c0001t0003g0137 | 2 | 372 | 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 | a0002c0006t0001g0032a0002c0006t0001g0038a0002c0006t0001g0165 | 3 | 318 | 0.0094 | -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 | 164 | 0.0061 | -34 | c.979 others(51): Show |
DNAJC1 | ENSG00000136770.11 | transcript | ENST00000376980.8 | protein_coding | 8/11 | chr10 | TogoVar |