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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DHRS9_chr2_169064563_169101167 | 169079918 | GGGGAGAG others(19): Show |
G | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0044 | 1 | 398 | 0.0025 | -26 | c.-59 others(43): Show |
DHRS9 | ENSG00000073737.17 | transcript | ENST00000674881.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DHRS9_chr2_169064563_169101167 | 169079981 | GAGAGAAA others(19): Show |
G | intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0265 | 1 | 398 | 0.0025 | -26 | c.-59 others(43): Show |
DHRS9 | ENSG00000073737.17 | transcript | ENST00000674881.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DHRS9_chr2_169064563_169101167 | 169079985 | GAAAGAAA others(19): Show |
G | intron_variant | MODIFIER | HG02165.hp2 HG03017.hp2 NA18962.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0068a0001c0002t0002g0277a0001c0002t0002g0279others(1): Show | 4 | 398 | 0.0101 | -26 | c.-59 others(43): Show |
DHRS9 | ENSG00000073737.17 | transcript | ENST00000674881.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DHRSX_chrX_2214506_2505976 | 2317684 | CTTTGATT others(19): Show |
C | intron_variant | MODIFIER | HG02886.hp1 | a0006 | a0006c0013 | a0006c0013t0015 | a0006c0013t0015g0011 | 1 | 50 | 0.0200 | -26 | c.287 others(45): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | ||||||
DHTKD1_chr10_12063954_12128221 | 12117846 | ATCTCCCC others(19): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG02572.hp1 HG02622.hp1 others(8): Show |
a0003a0004a0011others(1): Show | a0003c0003a0004c0007a0011c0021others(1): Show | a0003c0003t0006a0003c0003t0007a0004c0007t0006others(2): Show | a0003c0003t0006g0152a0003c0003t0006g0153a0003c0003t0006g0155others(8): Show | 11 | 374 | 0.0294 | -26 | c.240 others(42): Show |
DHTKD1 | ENSG00000181192.12 | transcript | ENST00000263035.9 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DHX15_chr4_24522475_24589554 | 24547873 | CTCTCTCT others(19): Show |
C | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0187 | 1 | 374 | 0.0027 | -26 | c.124 others(43): Show |
DHX15 | ENSG00000109606.13 | transcript | ENST00000336812.5 | protein_coding | 6/13 | chr4 | TogoVar | ||||||
DHX15_chr4_24522475_24589554 | 24547877 | CTCTCTCT others(19): Show |
C | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024 | 1 | 374 | 0.0027 | -26 | c.124 others(43): Show |
DHX15 | ENSG00000109606.13 | transcript | ENST00000336812.5 | protein_coding | 6/13 | chr4 | TogoVar | ||||||
DHX15_chr4_24522475_24589554 | 24547923 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00597.hp2 others(84): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0010 | a0001c0001t0001a0001c0004t0001a0002c0010t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(64): Show | 87 | 374 | 0.2326 | -26 | c.124 others(43): Show |
DHX15 | ENSG00000109606.13 | transcript | ENST00000336812.5 | protein_coding | 6/13 | chr4 | TogoVar | ||||||
DHX30_chr3_47798138_47855193 | 47854720 | AGCCCTGC others(19): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(123): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(5): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(120): Show | 126 | 266 | 0.4737 | -26 | c.*46 others(37): Show |
DHX30 | ENSG00000132153.15 | transcript | ENST00000445061.6 | protein_coding | 4528 | chr3 | TogoVar | ||||||
DHX32_chr10_125831337_125886292 | 125864929 | CAAAAAAA others(19): Show |
C | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0341 | 1 | 424 | 0.0024 | -26 | c.476 others(43): Show |
DHX32 | ENSG00000089876.12 | transcript | ENST00000284690.4 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
DHX36_chr3_154267546_154329487 | 154310804 | AAAATATA others(19): Show |
A | intron_variant | MODIFIER | HG02280.hp2 NA18522.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0319a0001c0001t0003g0320a0001c0001t0003g0324 | 3 | 366 | 0.0082 | -26 | c.642 others(41): Show |
DHX36 | ENSG00000174953.14 | transcript | ENST00000496811.6 | protein_coding | 4/24 | chr3 | TogoVar | ||||||
DHX36_chr3_154267546_154329487 | 154312852 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | NA19070.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0168 | 1 | 366 | 0.0027 | -26 | c.604 others(43): Show |
DHX36 | ENSG00000174953.14 | transcript | ENST00000496811.6 | protein_coding | 3/24 | chr3 | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 96717816 | GTATATAT others(19): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG03471.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001 | a0001c0001t0002g0008a0001c0001t0002g0009a0001c0003t0001g0136 | 3 | 147 | 0.0204 | -26 | c.133 others(45): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH3_chr13_59660583_60168928 | 60041106 | TATATATT others(19): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(85): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0014others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0112a0001c0001t0001g0113a0001c0001t0001g0121others(85): Show | 88 | 208 | 0.4231 | -26 | c.626 others(43): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 5/27 | chr13 | TogoVar | ||||||
DIP2A_chr21_46453891_46575015 | 46459293 | GGGACCCC others(19): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02486.hp1 HG02895.hp2 others(7): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0008a0001c0005t0017 | a0001c0002t0001g0004a0001c0005t0008g0005a0001c0005t0008g0006others(7): Show | 10 | 374 | 0.0267 | -26 | c.91+ others(38): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DIP2A_chr21_46453891_46575015 | 46503628 | CTTTCTTT others(19): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00558.hp2 others(115): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0099a0001c0001t0001g0100a0001c0001t0001g0103others(115): Show | 118 | 374 | 0.3155 | -26 | c.656 others(41): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 5/37 | chr21 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50579644 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG02965.hp1 HG03453.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0006a0002c0005t0006 | a0001c0001t0006g0105a0002c0005t0006g0103a0002c0005t0006g0109others(1): Show | 4 | 284 | 0.0141 | -26 | c.101 others(45): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50664830 | GTTTTTGT others(19): Show |
G | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0085 | 1 | 284 | 0.0035 | -26 | c.427 others(43): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2C_chr10_269201_694668 | 626402 | TGGTGTTA others(19): Show |
T | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0018 | a0001c0018t0003 | a0001c0018t0003g0011 | 1 | 88 | 0.0114 | -26 | c.85+ others(43): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 671377 | CCACAGAC others(19): Show |
C | intron_variant | MODIFIER | NA19007.hp2 NA19066.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0072a0001c0004t0001g0068 | 2 | 88 | 0.0227 | -26 | c.85+ others(43): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 671539 | CCACAGAC others(19): Show |
C | intron_variant | MODIFIER | HG01081.hp2 NA20129.hp2 |
a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0076a0001c0007t0002g0077 | 2 | 88 | 0.0227 | -26 | c.85+ others(43): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 671655 | GGACGGAG others(19): Show |
G | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 88 | 0.0114 | -26 | c.85+ others(43): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 671721 | CCACAGAC others(19): Show |
C | intron_variant | MODIFIER | HG01952.hp2 HG02004.hp2 HG02027.hp1 others(1): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0005a0001c0008t0001 | a0001c0001t0001g0022a0001c0001t0005g0024a0001c0008t0001g0018others(1): Show | 4 | 88 | 0.0455 | -26 | c.85+ others(43): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DIPK1B_chr9_136707572_136729742 | 136719842 | CCTGGGGC others(19): Show |
C | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 422 | 0.0024 | -26 | c.199 others(43): Show |
DIPK1B | ENSG00000165716.11 | transcript | ENST00000371692.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DIRAS2_chr9_90604832_90647824 | 90614306 | ATGTGTGT others(19): Show |
A | intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0316 | 1 | 440 | 0.0023 | -26 | c.-36 others(41): Show |
DIRAS2 | ENSG00000165023.7 | transcript | ENST00000375765.5 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
DIS3L2_chr2_231956713_232342192 | 232000650 | TTCCTTTC others(19): Show |
T | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0239 | 1 | 304 | 0.0033 | -26 | c.-93 others(45): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DIS3L2_chr2_231956713_232342192 | 232077999 | TTCTTTCT others(19): Show |
T | intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0052 | 1 | 304 | 0.0033 | -26 | c.367 others(43): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DIS3L2_chr2_231956713_232342192 | 232270860 | GTCTCTCT others(19): Show |
G | intron_variant | MODIFIER | HG02896.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135a0001c0001t0001g0136 | 2 | 304 | 0.0066 | -26 | c.165 others(45): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DISP1_chr1_222810039_223010995 | 222936577 | ATCATATA others(19): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(241): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0002a0001c0005others(36): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(37): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(241): Show | 244 | 348 | 0.7012 | -26 | c.-17 others(43): Show |
DISP1 | ENSG00000154309.9 | transcript | ENST00000675850.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DKK2_chr4_106916802_107041313 | 106962491 | ATGTGTGT others(19): Show |
A | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0189 | 1 | 218 | 0.0046 | -26 | c.223 others(45): Show |
DKK2 | ENSG00000155011.9 | transcript | ENST00000285311.8 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
DLC1_chr8_13078361_13519851 | 13188823 | ATATGTAT others(19): Show |
A | intron_variant | MODIFIER | HG02258.hp1 NA21309.hp2 |
a0002 | a0002c0002a0002c0006 | a0002c0002t0041a0002c0006t0008 | a0002c0002t0041g0040a0002c0006t0008g0015 | 2 | 212 | 0.0094 | -26 | c.134 others(47): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | ||||||
DLC1_chr8_13078361_13519851 | 13464746 | TTATATAT others(19): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(69): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0011others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(31): Show | a0001c0001t0001g0047a0001c0001t0001g0082a0001c0001t0001g0088others(69): Show | 72 | 212 | 0.3396 | -26 | c.102 others(47): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 2/17 | chr8 | TogoVar | ||||||
DLG1_chr3_197037560_197303612 | 197127437 | AAAAAAAA others(19): Show |
A | intron_variant | MODIFIER | HG00621.hp2 NA18950.hp2 NA19062.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0055a0001c0001t0001g0077 | 3 | 332 | 0.0090 | -26 | c.116 others(45): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 11/24 | chr3 | TogoVar | ||||||
DLG1_chr3_197037560_197303612 | 197127439 | AAAAAAAA others(19): Show |
A | intron_variant | MODIFIER | HG01928.hp2 NA18951.hp2 NA18956.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(6): Show | 9 | 332 | 0.0271 | -26 | c.116 others(45): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 11/24 | chr3 | TogoVar | ||||||
DLG2_chr11_83450173_85632344 | 85357704 | TTATATAT others(19): Show |
T | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0014 | 1 | 14 | 0.0714 | -26 | c.41- others(43): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 3/27 | chr11 | TogoVar | ||||||
DLG4_chr17_7182187_7222627 | 7207109 | GGGCAGAG others(19): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG02258.hp1 HG02572.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0017a0001c0001t0029others(1): Show | a0001c0001t0014g0193a0001c0001t0017g0198a0001c0001t0029g0194others(3): Show | 6 | 376 | 0.0160 | -26 | c.96+ others(41): Show |
DLG4 | ENSG00000132535.22 | transcript | ENST00000399506.9 | protein_coding | 2/19 | chr17 | TogoVar | ||||||
DLG5_chr10_77785791_77931755 | 77814461 | TTATATAT others(19): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02717.hp1 HG03195.hp2 |
a0001 | a0001c0001a0001c0055 | a0001c0001t0001a0001c0055t0029 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0055t0029g0325 | 3 | 331 | 0.0091 | -26 | c.402 others(45): Show |
DLG5 | ENSG00000151208.17 | transcript | ENST00000372391.7 | protein_coding | 20/31 | chr10 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3551164 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(53): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(53): Show | 56 | 80 | 0.7000 | -26 | c.205 others(47): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 9/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3561375 | GCAGTGAG others(19): Show |
G | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0067 | 1 | 80 | 0.0125 | -26 | c.205 others(45): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 9/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3574794 | ATTTTATT others(19): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0034 | a0001c0002t0034g0069 | 1 | 80 | 0.0125 | -26 | c.196 others(45): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 8/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 4367931 | CAAAATTT others(19): Show |
C | intron_variant | MODIFIER | HG03130.hp1 HG03471.hp2 NA18522.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0001t0008a0001c0001t0042others(1): Show | a0001c0001t0005g0042a0001c0001t0008g0045a0001c0001t0042g0080others(1): Show | 4 | 80 | 0.0500 | -26 | c.-26 others(47): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 1/12 | chr18 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 858713 | GTGATGCT others(19): Show |
G | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0009 | a0001c0009t0012 | a0001c0009t0012g0006 | 1 | 40 | 0.0250 | -26 | c.19- others(43): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 967816 | CTATATAT others(19): Show |
C | intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0013 | 1 | 40 | 0.0250 | -26 | c.73+ others(43): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP4_chr20_36301339_36533633 | 36317269 | TTCTTTCT others(19): Show |
T | intron_variant | MODIFIER | HG01261.hp1 HG02280.hp2 HG02630.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0017a0001c0001t0019others(2): Show | a0001c0001t0001g0140a0001c0001t0017g0141a0001c0001t0019g0113others(2): Show | 5 | 144 | 0.0347 | -26 | c.-30 others(47): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DLGAP4_chr20_36301339_36533633 | 36380593 | AAGAGAGA others(19): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01081.hp2 others(11): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0015a0001c0001t0001g0046a0001c0001t0001g0055others(11): Show | 14 | 144 | 0.0972 | -26 | c.-73 others(45): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DLGAP4_chr20_36301339_36533633 | 36489571 | GGTTTCAG others(19): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp2 HG00741.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0022others(6): Show | a0001c0001t0001g0125a0001c0001t0001g0128a0001c0001t0002g0074others(19): Show | 22 | 144 | 0.1528 | -26 | c.164 others(45): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DLST_chr14_74876916_74908743 | 74882429 | CGTGTTGA others(19): Show |
C | intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0175 | 1 | 392 | 0.0026 | -26 | c.64- others(39): Show |
DLST | ENSG00000119689.15 | transcript | ENST00000334220.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DMBT1_chr10_122555754_122648736 | 122634412 | TCTCTCTC others(19): Show |
T | intron_variant | MODIFIER | HG01934.hp2 HG02129.hp2 HG02165.hp1 others(5): Show |
a0001a0002a0007others(1): Show | a0001c0004a0002c0002a0007c0109others(1): Show | a0001c0004t0001a0002c0002t0001a0007c0109t0001others(1): Show | a0001c0004t0001g0178a0002c0002t0001g0004a0002c0002t0001g0017others(4): Show | 8 | 282 | 0.0284 | -26 | c.654 others(45): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 52/55 | chr10 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122634430 | TTCTCTCT others(19): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02257.hp1 HG02976.hp1 others(12): Show |
a0001a0003a0004others(6): Show | a0001c0004a0003c0005a0004c0003others(7): Show | a0001c0004t0001a0003c0005t0001a0004c0003t0003others(8): Show | a0001c0004t0001g0162a0001c0004t0001g0184a0001c0004t0001g0236others(12): Show | 15 | 282 | 0.0532 | -26 | c.654 others(45): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 52/55 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DMD_chrX_31114222_33216549 | 31187717 | CAGAGAGA others(19): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01261.hp1 |
a0004a0009 | a0004c0004a0009c0013 | a0004c0004t0001a0009c0013t0001 | a0004c0004t0001g0064a0009c0013t0001g0017 | 2 | 126 | 0.0159 | -26 | c.980 others(45): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 67/78 | chrX | TogoVar |