| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CYP7B1_chr8_64585851_64803737 | 64686246 | GCCCGGCC others(42): Show |
G | intron_variant | MODIFIER | HG01106.hp1 HG01168.hp2 HG01169.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0022a0001c0001t0045others(1): Show | a0001c0001t0015g0236a0001c0001t0015g0237a0001c0001t0022g0080others(2): Show | 5 | 258 | 0.0194 | -49 | c.123 others(68): Show |
CYP7B1 | ENSG00000172817.4 | transcript | ENST00000310193.4 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
| CYP7B1_chr8_64585851_64803737 | 64686405 | GGGGGGGT others(42): Show |
G | intron_variant | MODIFIER | HG01106.hp1 HG01168.hp2 HG01169.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0015a0001c0001t0022others(2): Show | a0001c0001t0006g0082a0001c0001t0015g0236a0001c0001t0015g0237others(3): Show | 6 | 258 | 0.0233 | -49 | c.123 others(68): Show |
CYP7B1 | ENSG00000172817.4 | transcript | ENST00000310193.4 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
| DAGLB_chr7_6404129_6452954 | 6421309 | AGGCAGCG others(42): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG02083.hp1 NA18942.hp2 others(6): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0002a0003c0005t0001 | a0001c0002t0002g0103a0001c0002t0002g0114a0001c0002t0002g0118others(6): Show | 9 | 380 | 0.0237 | -49 | c.121 others(66): Show |
DAGLB | ENSG00000164535.15 | transcript | ENST00000297056.11 | protein_coding | 9/14 | chr7 | TogoVar | ||||||
| DBNL_chr7_44039702_44074456 | 44042983 | TGTGCATA others(42): Show |
T | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02717.hp1 HG02723.hp1 others(6): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0012a0002c0003t0020a0002c0003t0068 | a0001c0002t0012g0028a0001c0002t0012g0117a0001c0002t0012g0118others(2): Show | 9 | 380 | 0.0237 | -49 | c.-17 others(60): Show |
DBNL | ENSG00000136279.21 | transcript | ENST00000448521.6 | protein_coding | 1718 | chr7 | TogoVar | ||||||
| DCBLD2_chr3_98790941_98906695 | 98836873 | CGACACCC others(42): Show |
C | intron_variant | MODIFIER | HG02818.hp1 NA18522.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0307a0001c0003t0003g0308 | 2 | 330 | 0.0061 | -49 | c.572 others(68): Show |
DCBLD2 | ENSG00000057019.16 | transcript | ENST00000326840.11 | protein_coding | 3/15 | chr3 | TogoVar | ||||||
| DCBLD2_chr3_98790941_98906695 | 98837202 | ACCCCCAC others(42): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00438.hp2 others(111): Show |
a0001a0008a0010others(1): Show | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0021others(11): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0153others(109): Show | 114 | 330 | 0.3455 | -49 | c.572 others(68): Show |
DCBLD2 | ENSG00000057019.16 | transcript | ENST00000326840.11 | protein_coding | 3/15 | chr3 | TogoVar | ||||||
| DCBLD2_chr3_98790941_98906695 | 98837499 | GGCTGGCC others(42): Show |
G | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0005 | a0001c0005t0034 | a0001c0005t0034g0127 | 1 | 330 | 0.0030 | -49 | c.571 others(68): Show |
DCBLD2 | ENSG00000057019.16 | transcript | ENST00000326840.11 | protein_coding | 3/15 | chr3 | TogoVar | ||||||
| DCBLD2_chr3_98790941_98906695 | 98837845 | CGGGGCGG others(42): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG01069.hp1 HG01071.hp1 others(12): Show |
a0001a0011 | a0001c0002a0001c0005a0001c0017others(1): Show | a0001c0002t0002a0001c0005t0006a0001c0005t0034others(3): Show | a0001c0002t0002g0030a0001c0005t0006g0001a0001c0005t0006g0128others(10): Show | 15 | 330 | 0.0455 | -49 | c.571 others(68): Show |
DCBLD2 | ENSG00000057019.16 | transcript | ENST00000326840.11 | protein_coding | 3/15 | chr3 | TogoVar | ||||||
| DDA1_chr19_17304563_17328298 | 17315257 | GTATATAC others(42): Show |
G | intron_variant | MODIFIER | HG00673.hp2 HG01433.hp1 HG02083.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006a0001c0001t0003g0024a0001c0001t0003g0058others(6): Show | 16 | 388 | 0.0412 | -49 | c.137 others(64): Show |
DDA1 | ENSG00000130311.11 | transcript | ENST00000359866.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| DDC_chr7_50453442_50570405 | 50459870 | GGGAGGGA others(42): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp1 HG02486.hp2 others(2): Show |
a0004 | a0004c0005 | a0004c0005t0003a0004c0005t0005 | a0004c0005t0003g0283a0004c0005t0003g0284a0004c0005t0003g0285others(2): Show | 5 | 360 | 0.0139 | -49 | c.*19 others(66): Show |
DDC | ENSG00000132437.18 | transcript | ENST00000444124.7 | protein_coding | 14/14 | chr7 | TogoVar | ||||||
| DDX1_chr2_15586868_15636101 | 15611480 | ACCTCCCG others(42): Show |
A | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0203 | 1 | 396 | 0.0025 | -49 | c.957 others(66): Show |
DDX1 | ENSG00000079785.16 | transcript | ENST00000233084.8 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| DDX1_chr2_15586868_15636101 | 15611673 | GCTGGCCG others(42): Show |
G | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0205 | 1 | 396 | 0.0025 | -49 | c.957 others(66): Show |
DDX1 | ENSG00000079785.16 | transcript | ENST00000233084.8 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| DDX1_chr2_15586868_15636101 | 15611720 | CGACTGGC others(42): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG03130.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0229a0001c0002t0001g0230 | 2 | 396 | 0.0051 | -49 | c.957 others(66): Show |
DDX1 | ENSG00000079785.16 | transcript | ENST00000233084.8 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| DDX23_chr12_48824756_48857163 | 48842493 | AAGGTGGG others(42): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02258.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0022a0001c0002t0007g0023a0001c0002t0007g0075 | 5 | 348 | 0.0144 | -49 | c.320 others(66): Show |
DDX23 | ENSG00000174243.11 | transcript | ENST00000308025.8 | protein_coding | 3/16 | chr12 | TogoVar | ||||||
| DEFB124_chr20_31460471_31480127 | 31470057 | GGCGGCTG others(42): Show |
G | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 | 1 | 362 | 0.0028 | -49 | c.58+ others(64): Show |
DEFB124 | ENSG00000180383.4 | transcript | ENST00000317676.3 | protein_coding | 2/2 | chr20 | TogoVar | ||||||
| DEFB124_chr20_31460471_31480127 | 31471489 | GGGCTGAC others(42): Show |
G | intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 362 | 0.0028 | -49 | c.58+ others(64): Show |
DEFB124 | ENSG00000180383.4 | transcript | ENST00000317676.3 | protein_coding | 2/2 | chr20 | TogoVar | ||||||
| DEFB124_chr20_31460471_31480127 | 31471496 | CCCCCCCA others(42): Show |
C | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 362 | 0.0028 | -49 | c.58+ others(64): Show |
DEFB124 | ENSG00000180383.4 | transcript | ENST00000317676.3 | protein_coding | 2/2 | chr20 | TogoVar | ||||||
| DGAT1_chr8_144309584_144331852 | 144313736 | GCGCCTCC others(42): Show |
G | downstream_gene_variant | MODIFIER | HG01081.hp2 HG02132.hp1 HG02818.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0034 | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0002g0085others(3): Show | 6 | 370 | 0.0162 | -49 | c.*27 others(60): Show |
DGAT1 | ENSG00000185000.12 | transcript | ENST00000528718.6 | protein_coding | 847 | chr8 | TogoVar | ||||||
| DGKB_chr7_14140049_14907751 | 14721489 | CTTAAAGC others(42): Show |
C | intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0004 | a0001c0004t0026 | a0001c0004t0026g0138 | 1 | 148 | 0.0068 | -49 | c.323 others(66): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 5/25 | chr7 | TogoVar | ||||||
| DGKI_chr7_137376037_137851974 | 137612603 | TTGATAAT others(42): Show |
T | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0016 | a0001c0016t0044 | a0001c0016t0044g0074 | 1 | 94 | 0.0106 | -49 | c.994 others(66): Show |
DGKI | ENSG00000157680.17 | transcript | ENST00000614521.2 | protein_coding | 8/32 | chr7 | TogoVar | ||||||
| DGKK_chrX_50360409_50475825 | 50447379 | ATATAATA others(42): Show |
A | intron_variant | MODIFIER | HG01361.hp1 HG02109.hp1 HG02257.hp2 others(9): Show |
a0001a0005 | a0001c0002a0005c0008 | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(1): Show | a0001c0002t0001g0088a0001c0002t0001g0127a0001c0002t0001g0202others(9): Show | 12 | 248 | 0.0484 | -49 | c.645 others(68): Show |
DGKK | ENSG00000274588.2 | transcript | ENST00000611977.2 | protein_coding | 1/27 | chrX | TogoVar | ||||||
| DGLUCY_chr14_91109073_91230632 | 91184585 | GGGAGGGA others(42): Show |
G | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 216 | 0.0046 | -49 | c.934 others(66): Show |
DGLUCY | ENSG00000133943.21 | transcript | ENST00000256324.15 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| DHRS12_chr13_51762993_51809163 | 51774703 | TCTACTAC others(42): Show |
T | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0156 | 1 | 420 | 0.0024 | -49 | c.364 others(64): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | ||||||
| DHRS12_chr13_51762993_51809163 | 51775987 | CCTACATG others(42): Show |
C | intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0049 | 1 | 420 | 0.0024 | -49 | c.363 others(66): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | ||||||
| DHRS12_chr13_51762993_51809163 | 51776030 | ATGTATTC others(42): Show |
A | intron_variant | MODIFIER | HG02004.hp2 HG02258.hp1 HG02896.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0003 | a0001c0001t0003g0296a0002c0002t0003g0080a0002c0002t0003g0192others(1): Show | 4 | 420 | 0.0095 | -49 | c.363 others(65): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | ||||||
| DHRS12_chr13_51762993_51809163 | 51776092 | ATGTATTC others(42): Show |
A | intron_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0050 | 1 | 420 | 0.0024 | -49 | c.363 others(64): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | ||||||
| DHRSX_chrX_2214506_2505976 | 2464324 | GGTTCCCT others(42): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG01496.hp2 HG01934.hp1 others(13): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0002c0005others(4): Show | a0001c0001t0001a0001c0001t0012a0002c0002t0003others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0026others(13): Show | 16 | 50 | 0.3200 | -49 | c.109 others(68): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 1/6 | chrX | TogoVar | ||||||
| DIP2B_chr12_50499985_50753657 | 50579641 | AAAAATAT others(42): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0284 | 1 | 284 | 0.0035 | -49 | c.101 others(68): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| DIP2B_chr12_50499985_50753657 | 50579643 | AAATATAT others(42): Show |
A | intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0051 | 1 | 284 | 0.0035 | -49 | c.101 others(68): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| DIP2C_chr10_269201_694668 | 322337 | CGCTGTTA others(42): Show |
C | intron_variant | MODIFIER | HG00621.hp1 NA19066.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0085a0001c0002t0003g0043 | 2 | 88 | 0.0227 | -49 | c.392 others(68): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 322484 | CGCTGTTA others(42): Show |
C | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0029 | 1 | 88 | 0.0114 | -49 | c.392 others(68): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 322486 | CTGTTAGA others(42): Show |
C | intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0039 | 1 | 88 | 0.0114 | -49 | c.392 others(68): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 322633 | CTGTTAGA others(42): Show |
C | intron_variant | MODIFIER | HG02004.hp2 HG02717.hp1 |
a0001 | a0001c0008a0001c0009 | a0001c0008t0001a0001c0009t0001 | a0001c0008t0001g0018a0001c0009t0001g0007 | 2 | 88 | 0.0227 | -49 | c.392 others(68): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 322667 | GGCGAGAG others(42): Show |
G | intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0063 | 1 | 88 | 0.0114 | -49 | c.392 others(68): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 322731 | CTGTTAGA others(42): Show |
C | intron_variant | MODIFIER | HG01934.hp1 HG02280.hp2 |
a0001 | a0001c0002a0001c0009 | a0001c0002t0001a0001c0009t0003 | a0001c0002t0001g0031a0001c0009t0003g0003 | 2 | 88 | 0.0227 | -49 | c.392 others(68): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 323170 | TGTTGTTA others(42): Show |
T | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 88 | 0.0114 | -49 | c.392 others(68): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 323353 | AGCGAGAG others(42): Show |
A | intron_variant | MODIFIER | HG01952.hp1 HG03225.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003 | a0001c0001t0002g0025a0001c0002t0003g0036 | 2 | 88 | 0.0227 | -49 | c.392 others(68): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 679209 | ATCTCTAC others(42): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0016 | a0001c0016t0009 | a0001c0016t0009g0073 | 1 | 88 | 0.0114 | -49 | c.85+ others(66): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
| DISC1_chr1_231621790_232046272 | 231762181 | CTTCTTTT others(42): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00673.hp2 HG01496.hp1 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0012others(6): Show | a0001c0001t0001a0001c0001t0013a0001c0005t0002others(10): Show | a0001c0001t0001g0032a0001c0001t0013g0036a0001c0005t0002g0016others(10): Show | 13 | 40 | 0.3250 | -49 | c.126 others(68): Show |
DISC1 | ENSG00000162946.24 | transcript | ENST00000439617.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 965224 | CTGCACAC others(42): Show |
C | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0009 | a0001c0009t0012 | a0001c0009t0012g0006 | 1 | 40 | 0.0250 | -49 | c.73+ others(66): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 965661 | GACCCCGC others(42): Show |
G | intron_variant | MODIFIER | HG01496.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0009 | 1 | 40 | 0.0250 | -49 | c.73+ others(66): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1247081 | TCCACGTC others(42): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02818.hp1 HG02895.hp2 |
a0001a0002 | a0001c0002a0001c0003a0002c0007 | a0001c0002t0027a0001c0003t0024a0002c0007t0008 | a0001c0002t0027g0023a0001c0003t0024g0003a0002c0007t0008g0040 | 3 | 40 | 0.0750 | -49 | c.74- others(66): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1248391 | GATCAGTG others(42): Show |
G | intron_variant | MODIFIER | HG02895.hp1 HG03516.hp2 NA20300.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0006a0001c0003t0001 | a0001c0002t0006g0011a0001c0003t0001g0026a0001c0003t0001g0027 | 3 | 40 | 0.0750 | -49 | c.74- others(66): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1400391 | GCGCCACC others(42): Show |
G | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0020 | 1 | 40 | 0.0250 | -49 | c.107 others(70): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DMD_chrX_31114222_33216549 | 32452445 | GGAAAGGA others(42): Show |
G | intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0098 | 1 | 126 | 0.0079 | -49 | c.360 others(68): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 26/78 | chrX | TogoVar | ||||||
| DMXL1_chr5_119066087_119254127 | 119122033 | AGGGGGCT others(42): Show |
A | intron_variant | MODIFIER | HG03017.hp2 | a0015 | a0015c0042 | a0015c0042t0001 | a0015c0042t0001g0093 | 1 | 238 | 0.0042 | -49 | c.110 others(66): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| DNAH17_chr17_78418697_78582396 | 78465748 | GGGAGGGA others(42): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02145.hp2 others(15): Show |
a0005a0023a0029others(15): Show | a0005c0053a0023c0016a0029c0201others(15): Show | a0005c0053t0001a0023c0016t0001a0029c0201t0001others(15): Show | a0005c0053t0001g0176a0023c0016t0001g0010a0029c0201t0001g0140others(15): Show | 18 | 252 | 0.0714 | -49 | c.894 others(66): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 56/80 | chr17 | TogoVar | ||||||
| DNAJC13_chr3_132412502_132544032 | 132471020 | GACCCCCC others(42): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02486.hp1 HG02723.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146a0001c0001t0002g0272a0001c0001t0002g0302others(3): Show | 6 | 318 | 0.0189 | -49 | c.220 others(68): Show |
DNAJC13 | ENSG00000138246.17 | transcript | ENST00000260818.11 | protein_coding | 20/55 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| DNAJC13_chr3_132412502_132544032 | 132471248 | CCCCCCCA others(42): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02809.hp1 HG02922.hp2 |
a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0276a0007c0009t0001g0279a0007c0009t0001g0281 | 3 | 318 | 0.0094 | -49 | c.220 others(68): Show |
DNAJC13 | ENSG00000138246.17 | transcript | ENST00000260818.11 | protein_coding | 20/55 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| DNAJC15_chr13_43018586_43119213 | 43117187 | TGCCTAGT others(42): Show |
T | downstream_gene_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0095 | 1 | 352 | 0.0028 | -49 | c.*99 others(60): Show |
DNAJC15 | ENSG00000120675.6 | transcript | ENST00000379221.4 | protein_coding | 2975 | chr13 | TogoVar |