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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HDAC7_chr12_47777722_47824903 | 47810804 | G | GTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00642.hp2 HG00738.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0014 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0140a0001c0001t0001g0183a0001c0001t0002g0176others(3): Show | 6 | 380 | 0.0158 | 8 | c.20- others(23): Show |
HDAC7 | ENSG00000061273.18 | transcript | ENST00000080059.12 | protein_coding | 1/25 | chr12 | TogoVar | ||||||
HDAC8_chrX_72324516_72577843 | 72330946 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 208 | 0.0048 | 8 | c.111 others(25): Show |
HDAC8 | ENSG00000147099.21 | transcript | ENST00000373573.9 | protein_coding | 10/10 | chrX | TogoVar | ||||||
HDAC8_chrX_72324516_72577843 | 72388595 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02451.hp1 HG02818.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0024a0001c0001t0001g0027a0001c0001t0001g0058others(18): Show | 21 | 208 | 0.1010 | 8 | c.100 others(29): Show |
HDAC8 | ENSG00000147099.21 | transcript | ENST00000373573.9 | protein_coding | 9/10 | chrX | TogoVar | ||||||
HDAC8_chrX_72324516_72577843 | 72416408 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0179 | 1 | 208 | 0.0048 | 8 | c.100 others(29): Show |
HDAC8 | ENSG00000147099.21 | transcript | ENST00000373573.9 | protein_coding | 9/10 | chrX | TogoVar | ||||||
HDAC8_chrX_72324516_72577843 | 72453464 | T | TAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG00738.hp1 others(36): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0009others(36): Show | 39 | 208 | 0.1875 | 8 | c.100 others(27): Show |
HDAC8 | ENSG00000147099.21 | transcript | ENST00000373573.9 | protein_coding | 9/10 | chrX | TogoVar | ||||||
HDAC8_chrX_72324516_72577843 | 72453491 | A | AGAAAGAA others(1): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01243.hp1 HG02109.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0082a0001c0001t0001g0087a0001c0001t0002g0085others(2): Show | 5 | 208 | 0.0240 | 8 | c.100 others(27): Show |
HDAC8 | ENSG00000147099.21 | transcript | ENST00000373573.9 | protein_coding | 9/10 | chrX | TogoVar | ||||||
HDAC8_chrX_72324516_72577843 | 72470149 | A | AATACATA others(1): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 | 1 | 208 | 0.0048 | 8 | c.738 others(25): Show |
HDAC8 | ENSG00000147099.21 | transcript | ENST00000373573.9 | protein_coding | 7/10 | chrX | TogoVar | ||||||
HDAC8_chrX_72324516_72577843 | 72539214 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 208 | 0.0048 | 8 | c.437 others(27): Show |
HDAC8 | ENSG00000147099.21 | transcript | ENST00000373573.9 | protein_coding | 4/10 | chrX | TogoVar | ||||||
HDAC8_chrX_72324516_72577843 | 72551079 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 208 | 0.0048 | 8 | c.437 others(27): Show |
HDAC8 | ENSG00000147099.21 | transcript | ENST00000373573.9 | protein_coding | 4/10 | chrX | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18547806 | C | CCCTTCCT others(1): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01071.hp2 HG01255.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0009others(18): Show | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0007g0041others(20): Show | 23 | 156 | 0.1474 | 8 | c.23- others(25): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HDAC9_chr7_18490749_19007416 | 18568026 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG02818.hp1 HG02897.hp2 HG03098.hp2 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0032a0001c0003t0008a0001c0003t0013others(3): Show | a0001c0002t0032g0018a0001c0003t0008g0009a0001c0003t0013g0045others(3): Show | 6 | 156 | 0.0385 | 8 | c.23- others(25): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HDAC9_chr7_18490749_19007416 | 18579791 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02559.hp1 HG02897.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0013a0001c0003t0001a0001c0003t0005others(5): Show | a0001c0001t0013g0012a0001c0003t0001g0052a0001c0003t0005g0006others(6): Show | 9 | 156 | 0.0577 | 8 | c.23- others(23): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HDAC9_chr7_18490749_19007416 | 18591475 | A | ATGTGTGT others(1): Show |
splice_region_variant others(1): Show |
LOW | HG02109.hp1 HG03471.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0021a0001c0004t0055 | a0001c0001t0021g0013a0001c0004t0055g0144 | 2 | 156 | 0.0128 | 8 | c.416 others(20): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 4/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HDAC9_chr7_18490749_19007416 | 18618726 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02109.hp2 HG03579.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0052a0001c0002t0016others(2): Show | a0001c0001t0002g0085a0001c0001t0052g0055a0001c0002t0016g0088others(2): Show | 5 | 156 | 0.0321 | 8 | c.665 others(27): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 6/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HDAC9_chr7_18490749_19007416 | 18707854 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00738.hp2 HG00741.hp2 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(24): Show | a0001c0001t0001g0073a0001c0001t0001g0074a0001c0001t0004g0011others(40): Show | 43 | 156 | 0.2756 | 8 | c.173 others(29): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 12/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HDAC9_chr7_18490749_19007416 | 18719331 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03471.hp1 HG04115.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0034a0001c0001t0050a0001c0002t0003others(4): Show | a0001c0001t0034g0093a0001c0001t0050g0062a0001c0002t0003g0116others(4): Show | 7 | 156 | 0.0449 | 8 | c.173 others(27): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 12/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HDAC9_chr7_18490749_19007416 | 18732878 | C | CGTGTATA others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02129.hp2 HG02970.hp2 others(8): Show |
a0001 | a0001c0002a0001c0004a0001c0011 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(6): Show | a0001c0002t0001g0033a0001c0002t0002g0095a0001c0002t0003g0080others(8): Show | 11 | 156 | 0.0705 | 8 | c.190 others(27): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HDAC9_chr7_18490749_19007416 | 18732902 | C | CGTGTATA others(1): Show |
intron_variant | MODIFIER | HG02970.hp2 HG02976.hp1 HG03471.hp2 others(3): Show |
a0001 | a0001c0002a0001c0004a0001c0011 | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(3): Show | a0001c0002t0001g0033a0001c0002t0003g0080a0001c0002t0004g0150others(3): Show | 6 | 156 | 0.0385 | 8 | c.190 others(27): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HDAC9_chr7_18490749_19007416 | 18784943 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02683.hp1 HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0002 | a0001c0002t0011a0001c0002t0017 | a0001c0002t0011g0026a0001c0002t0017g0111a0001c0002t0017g0112 | 3 | 156 | 0.0192 | 8 | c.221 others(27): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HDAC9_chr7_18490749_19007416 | 18786585 | G | GCTTCCTT others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG03471.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0055 | a0001c0002t0001g0135a0001c0004t0055g0144 | 2 | 156 | 0.0128 | 8 | c.221 others(27): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HDAC9_chr7_18490749_19007416 | 18789286 | G | GCGCACAC others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00741.hp2 HG01109.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0002g0036a0001c0001t0002g0090a0001c0001t0002g0094others(24): Show | 27 | 156 | 0.1731 | 8 | c.221 others(27): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HDAC9_chr7_18490749_19007416 | 18789286 | G | GCGCGCAC others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02559.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0013a0001c0002t0019 | a0001c0001t0007g0041a0001c0001t0007g0047a0001c0001t0013g0012others(1): Show | 4 | 156 | 0.0256 | 8 | c.221 others(27): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HDAC9_chr7_18490749_19007416 | 18857335 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00639.hp2 HG00738.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(19): Show | a0001c0001t0002g0090a0001c0001t0003g0002a0001c0001t0005g0120others(21): Show | 24 | 156 | 0.1539 | 8 | c.268 others(29): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 21/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HDAC9_chr7_18490749_19007416 | 18932848 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01109.hp2 HG01361.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(7): Show | a0001c0001t0001g0072a0001c0001t0004g0083a0001c0001t0009g0125others(7): Show | 10 | 156 | 0.0641 | 8 | c.280 others(27): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 22/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HDAC9_chr7_18490749_19007416 | 18932880 | G | GAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG02273.hp2 NA19056.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0080a0001c0002t0003g0132 | 2 | 156 | 0.0128 | 8 | c.280 others(27): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 22/25 | chr7 | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18960009 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01361.hp2 HG01884.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0001g0074a0001c0001t0003g0110a0001c0001t0005g0028others(15): Show | 18 | 156 | 0.1154 | 8 | c.302 others(27): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 24/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HDAC9_chr7_18490749_19007416 | 18968958 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01169.hp1 HG01884.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(8): Show | a0001c0001t0003g0130a0001c0001t0003g0134a0001c0001t0005g0028others(15): Show | 18 | 156 | 0.1154 | 8 | c.302 others(27): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 24/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HDC_chr15_50236947_50270726 | 50240886 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG01123.hp1 HG01192.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0015others(4): Show | 8 | 418 | 0.0191 | 8 | c.*13 others(19): Show |
HDC | ENSG00000140287.11 | transcript | ENST00000267845.8 | protein_coding | 1060 | chr15 | TogoVar | ||||||
HDC_chr15_50236947_50270726 | 50244415 | A | ACCTTCAC others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00597.hp1 others(30): Show |
a0001a0002a0004 | a0001c0005a0002c0002a0002c0008others(1): Show | a0001c0005t0002a0002c0002t0002a0002c0008t0002others(1): Show | a0001c0005t0002g0052a0001c0005t0002g0188a0001c0005t0002g0195others(18): Show | 33 | 418 | 0.0790 | 8 | c.114 others(27): Show |
HDC | ENSG00000140287.11 | transcript | ENST00000267845.8 | protein_coding | 10/11 | chr15 | TogoVar | ||||||
HDC_chr15_50236947_50270726 | 50254738 | T | TTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01074.hp2 HG02486.hp1 others(2): Show |
a0001a0002 | a0001c0004a0002c0007 | a0001c0004t0001a0002c0007t0001 | a0001c0004t0001g0053a0002c0007t0001g0060a0002c0007t0001g0061others(1): Show | 5 | 418 | 0.0120 | 8 | c.442 others(21): Show |
HDC | ENSG00000140287.11 | transcript | ENST00000267845.8 | protein_coding | 4/11 | chr15 | TogoVar | ||||||
HDC_chr15_50236947_50270726 | 50254776 | C | CTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02818.hp2 HG03098.hp2 |
a0001a0002 | a0001c0004a0002c0007 | a0001c0004t0001a0002c0007t0001 | a0001c0004t0001g0142a0001c0004t0001g0143a0002c0007t0001g0059 | 3 | 418 | 0.0072 | 8 | c.442 others(23): Show |
HDC | ENSG00000140287.11 | transcript | ENST00000267845.8 | protein_coding | 4/11 | chr15 | TogoVar | ||||||
HDDC2_chr6_125270350_125306967 | 125301442 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02630.hp2 HG02717.hp2 others(2): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0003a0001c0001t0004a0004c0005t0003 | a0001c0001t0003g0155a0001c0001t0003g0164a0001c0001t0003g0166others(2): Show | 5 | 374 | 0.0134 | 8 | c.84+ others(21): Show |
HDDC2 | ENSG00000111906.18 | transcript | ENST00000398153.7 | protein_coding | 1/5 | chr6 | TogoVar | ||||||
HDDC2_chr6_125270350_125306967 | 125301486 | A | ACACACGC others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00639.hp2 HG01099.hp2 others(53): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0047a0001c0001t0003g0004a0001c0001t0003g0009others(21): Show | 56 | 374 | 0.1497 | 8 | c.84+ others(21): Show |
HDDC2 | ENSG00000111906.18 | transcript | ENST00000398153.7 | protein_coding | 1/5 | chr6 | TogoVar | ||||||
HDGFL2_chr19_4467297_4507207 | 4484666 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00735.hp1 HG01109.hp1 others(42): Show |
a0001a0003a0004 | a0001c0001a0001c0016a0003c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0027a0001c0001t0001g0089a0001c0001t0001g0094others(42): Show | 45 | 358 | 0.1257 | 8 | c.289 others(25): Show |
HDGFL2 | ENSG00000167674.15 | transcript | ENST00000616600.5 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
HDGFL2_chr19_4467297_4507207 | 4491249 | A | ACCCACCC others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01167.hp2 HG01169.hp1 others(4): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0002a0001c0002t0002a0003c0004t0002 | a0001c0001t0002g0210a0001c0001t0002g0211a0001c0001t0002g0221others(4): Show | 7 | 358 | 0.0196 | 8 | c.490 others(23): Show |
HDGFL2 | ENSG00000167674.15 | transcript | ENST00000616600.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
HDGFL3_chr15_83122753_83212823 | 83169414 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02738.hp2 HG03453.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0009 | a0001c0001t0003g0034a0001c0001t0003g0035a0001c0001t0003g0036others(5): Show | 8 | 246 | 0.0325 | 8 | c.85- others(23): Show |
HDGFL3 | ENSG00000166503.9 | transcript | ENST00000299633.7 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
HDHD5_chr22_17132520_17164277 | 17134008 | T | TAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 HG02056.hp1 HG02145.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(2): Show | a0001c0001t0001g0121a0001c0001t0001g0136a0001c0002t0001g0079others(7): Show | 10 | 422 | 0.0237 | 8 | c.*40 others(19): Show |
HDHD5 | ENSG00000069998.12 | transcript | ENST00000336737.8 | protein_coding | 3511 | chr22 | TogoVar | ||||||
HDHD5_chr22_17132520_17164277 | 17136682 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG00639.hp1 HG02080.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0033a0001c0001t0001g0125a0001c0001t0001g0127others(4): Show | 7 | 422 | 0.0166 | 8 | c.*13 others(19): Show |
HDHD5 | ENSG00000069998.12 | transcript | ENST00000336737.8 | protein_coding | 837 | chr22 | TogoVar | ||||||
HDHD5_chr22_17132520_17164277 | 17157076 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01952.hp2 HG02071.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0182a0001c0002t0001g0023a0001c0002t0001g0183others(3): Show | 8 | 422 | 0.0190 | 8 | c.126 others(25): Show |
HDHD5 | ENSG00000069998.12 | transcript | ENST00000336737.8 | protein_coding | 1/7 | chr22 | TogoVar | ||||||
HDHD5_chr22_17132520_17164277 | 17157076 | T | TCTCACAC others(1): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02572.hp2 HG02630.hp1 others(5): Show |
a0001a0005 | a0001c0002a0005c0010 | a0001c0002t0001a0005c0010t0002 | a0001c0002t0001g0012a0001c0002t0001g0045a0001c0002t0001g0207others(1): Show | 8 | 422 | 0.0190 | 8 | c.126 others(25): Show |
HDHD5 | ENSG00000069998.12 | transcript | ENST00000336737.8 | protein_coding | 1/7 | chr22 | TogoVar | ||||||
HDHD5_chr22_17132520_17164277 | 17157085 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(136): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(81): Show | 139 | 422 | 0.3294 | 8 | c.126 others(25): Show |
HDHD5 | ENSG00000069998.12 | transcript | ENST00000336737.8 | protein_coding | 1/7 | chr22 | TogoVar | ||||||
HDLBP_chr2_241222291_241320672 | 241258385 | A | ATGGTGAC others(1): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02630.hp2 HG02818.hp1 |
a0001a0003 | a0001c0004a0003c0006 | a0001c0004t0036a0003c0006t0001 | a0001c0004t0036g0187a0003c0006t0001g0195a0003c0006t0001g0196 | 3 | 354 | 0.0085 | 8 | c.451 others(25): Show |
HDLBP | ENSG00000115677.18 | transcript | ENST00000310931.10 | protein_coding | 5/27 | chr2 | TogoVar | ||||||
HDX_chrX_84312878_84507453 | 84313397 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0132 | 1 | 269 | 0.0037 | 8 | c.*84 others(19): Show |
HDX | ENSG00000165259.14 | transcript | ENST00000373177.3 | protein_coding | 4480 | chrX | TogoVar | ||||||
HDX_chrX_84312878_84507453 | 84349609 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0248 | 1 | 269 | 0.0037 | 8 | c.145 others(27): Show |
HDX | ENSG00000165259.14 | transcript | ENST00000373177.3 | protein_coding | 6/10 | chrX | TogoVar | ||||||
HDX_chrX_84312878_84507453 | 84405660 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00639.hp1 HG01257.hp2 others(16): Show |
a0001a0005 | a0001c0001a0001c0006a0005c0010 | a0001c0001t0001a0001c0001t0007a0001c0006t0001others(1): Show | a0001c0001t0001g0156a0001c0001t0001g0175a0001c0001t0001g0209others(16): Show | 19 | 269 | 0.0706 | 8 | c.130 others(29): Show |
HDX | ENSG00000165259.14 | transcript | ENST00000373177.3 | protein_coding | 5/10 | chrX | TogoVar | ||||||
HDX_chrX_84312878_84507453 | 84405662 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01346.hp2 HG01358.hp1 others(48): Show |
a0001a0007 | a0001c0001a0007c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0044a0001c0001t0001g0094others(47): Show | 51 | 269 | 0.1896 | 8 | c.130 others(29): Show |
HDX | ENSG00000165259.14 | transcript | ENST00000373177.3 | protein_coding | 5/10 | chrX | TogoVar | ||||||
HDX_chrX_84312878_84507453 | 84406535 | C | CACACTCT others(1): Show |
intron_variant | MODIFIER | HG03490.hp1 HG04115.hp1 NA18612.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106a0001c0001t0002g0107a0001c0001t0002g0108others(2): Show | 5 | 269 | 0.0186 | 8 | c.130 others(29): Show |
HDX | ENSG00000165259.14 | transcript | ENST00000373177.3 | protein_coding | 5/10 | chrX | TogoVar | ||||||
HDX_chrX_84312878_84507453 | 84406537 | C | CTATCTAT others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG01099.hp1 others(39): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0044a0001c0001t0001g0094others(38): Show | 42 | 269 | 0.1561 | 8 | c.130 others(29): Show |
HDX | ENSG00000165259.14 | transcript | ENST00000373177.3 | protein_coding | 5/10 | chrX | TogoVar | ||||||
HDX_chrX_84312878_84507453 | 84408499 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 269 | 0.0037 | 8 | c.130 others(29): Show |
HDX | ENSG00000165259.14 | transcript | ENST00000373177.3 | protein_coding | 5/10 | chrX | TogoVar | ||||||
HDX_chrX_84312878_84507453 | 84417218 | G | GAAAAAGA others(1): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02976.hp1 HG03139.hp1 others(6): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0188a0001c0001t0001g0206a0001c0001t0001g0209others(6): Show | 9 | 269 | 0.0335 | 8 | c.130 others(29): Show |
HDX | ENSG00000165259.14 | transcript | ENST00000373177.3 | protein_coding | 5/10 | chrX | TogoVar |