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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HMGCLL1_chr6_55429373_55584192 | 55539990 | AAGGAAGG others(9): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG03041.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0008a0001c0001t0001g0187a0001c0001t0001g0236others(1): Show | 4 | 334 | 0.0120 | -16 | c.297 others(33): Show |
HMGCLL1 | ENSG00000146151.14 | transcript | ENST00000274901.9 | protein_coding | 3/8 | chr6 | TogoVar | ||||||
HMGCLL1_chr6_55429373_55584192 | 55539994 | AAGGGAGG others(9): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG03225.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0144a0001c0001t0001g0229a0001c0001t0003g0219 | 3 | 334 | 0.0090 | -16 | c.297 others(33): Show |
HMGCLL1 | ENSG00000146151.14 | transcript | ENST00000274901.9 | protein_coding | 3/8 | chr6 | TogoVar | ||||||
HMGCL_chr1_23796885_23830429 | 23825731 | TCCAAAAA others(9): Show |
T | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01106.hp1 HG02451.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0024a0001c0001t0001g0069others(6): Show | 11 | 372 | 0.0296 | -16 | c.-33 others(25): Show |
HMGCL | ENSG00000117305.15 | transcript | ENST00000374490.8 | protein_coding | 303 | chr1 | TogoVar | ||||||
HMGCR_chr5_75332220_75367101 | 75356929 | ATCCATCC others(9): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00544.hp1 others(123): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0046a0001c0001t0001g0151a0001c0001t0001g0152others(71): Show | 126 | 390 | 0.3231 | -16 | c.198 others(33): Show |
HMGCR | ENSG00000113161.17 | transcript | ENST00000287936.9 | protein_coding | 15/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
HMGN2_chr1_26467440_26481642 | 26478517 | ATATATAA others(9): Show |
A | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02723.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0015 | a0001c0001t0004g0007a0001c0001t0004g0032a0001c0001t0015g0031 | 3 | 390 | 0.0077 | -16 | c.*33 others(27): Show |
HMGN2 | ENSG00000198830.12 | transcript | ENST00000361427.6 | protein_coding | 1876 | chr1 | TogoVar | ||||||
HMGN2_chr1_26467440_26481642 | 26478539 | ATATATAA others(9): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00733.hp2 HG00735.hp1 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0012others(1): Show | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0024others(4): Show | 47 | 390 | 0.1205 | -16 | c.*33 others(27): Show |
HMGN2 | ENSG00000198830.12 | transcript | ENST00000361427.6 | protein_coding | 1898 | chr1 | TogoVar | ||||||
HMGN2_chr1_26467440_26481642 | 26478553 | GTGTATAT others(9): Show |
G | downstream_gene_variant | MODIFIER | HG03209.hp1 HG03942.hp2 NA18961.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 390 | 0.0077 | -16 | c.*34 others(27): Show |
HMGN2 | ENSG00000198830.12 | transcript | ENST00000361427.6 | protein_coding | 1912 | chr1 | TogoVar | ||||||
HMGN2_chr1_26467440_26481642 | 26478555 | GTATATAT others(9): Show |
G | downstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 390 | 0.0026 | -16 | c.*34 others(27): Show |
HMGN2 | ENSG00000198830.12 | transcript | ENST00000361427.6 | protein_coding | 1914 | chr1 | TogoVar | ||||||
HMGN3_chr6_79196245_79239682 | 79200894 | GTTTTTTT others(9): Show |
G | downstream_gene_variant | MODIFIER | HG02738.hp1 HG03130.hp1 HG03209.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0038others(7): Show | 10 | 322 | 0.0311 | -16 | c.*77 others(25): Show |
HMGN3 | ENSG00000118418.16 | transcript | ENST00000620514.2 | protein_coding | 350 | chr6 | TogoVar | ||||||
HMGN3_chr6_79196245_79239682 | 79213141 | GAGATGGG others(9): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG02451.hp2 HG02647.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0007 | a0001c0001t0002g0006a0001c0001t0006g0046a0001c0001t0007g0056 | 8 | 322 | 0.0248 | -16 | c.66+ others(31): Show |
HMGN3 | ENSG00000118418.16 | transcript | ENST00000620514.2 | protein_coding | 2/6 | chr6 | TogoVar | ||||||
HMGN5_chrX_81108699_81206913 | 81153583 | CTATATAT others(9): Show |
C | intron_variant | MODIFIER | HG03041.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0108 | 1 | 225 | 0.0044 | -16 | c.-12 others(37): Show |
HMGN5 | ENSG00000198157.11 | transcript | ENST00000358130.7 | protein_coding | 1/6 | chrX | TogoVar | ||||||
HMHB1_chr5_143807161_143825716 | 143820318 | TAAAAAAA others(9): Show |
T | intron_variant | MODIFIER | NA18968.hp2 NA19006.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0126a0002c0002t0001g0127 | 2 | 458 | 0.0044 | -16 | c.38- others(29): Show |
HMHB1 | ENSG00000158497.6 | transcript | ENST00000289448.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
HMOX1_chr22_35376096_35399207 | 35380849 | GTGTGTGT others(9): Show |
G | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01243.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0105a0001c0001t0001g0107others(6): Show | 10 | 384 | 0.0260 | -16 | c.-32 others(25): Show |
HMOX1 | ENSG00000100292.18 | transcript | ENST00000216117.9 | protein_coding | 246 | chr22 | TogoVar | ||||||
HMOX1_chr22_35376096_35399207 | 35389341 | CTCCTTCC others(9): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG02976.hp2 HG03453.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0091a0001c0001t0001g0111a0001c0001t0001g0138others(4): Show | 7 | 384 | 0.0182 | -16 | c.637 others(31): Show |
HMOX1 | ENSG00000100292.18 | transcript | ENST00000216117.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
HMOX1_chr22_35376096_35399207 | 35389383 | CCTTCCTT others(9): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01255.hp2 HG01496.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0088a0001c0001t0001g0090others(5): Show | 11 | 384 | 0.0287 | -16 | c.637 others(31): Show |
HMOX1 | ENSG00000100292.18 | transcript | ENST00000216117.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
HMOX1_chr22_35376096_35399207 | 35389387 | CCTTCCTT others(9): Show |
C | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0331 | 1 | 384 | 0.0026 | -16 | c.637 others(31): Show |
HMOX1 | ENSG00000100292.18 | transcript | ENST00000216117.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
HMOX1_chr22_35376096_35399207 | 35389391 | CCTTCCTT others(9): Show |
C | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 384 | 0.0026 | -16 | c.637 others(31): Show |
HMOX1 | ENSG00000100292.18 | transcript | ENST00000216117.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
HMOX1_chr22_35376096_35399207 | 35389414 | TTCTTTCT others(9): Show |
T | intron_variant | MODIFIER | HG02922.hp1 NA18948.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074a0001c0001t0001g0126 | 2 | 384 | 0.0052 | -16 | c.637 others(31): Show |
HMOX1 | ENSG00000100292.18 | transcript | ENST00000216117.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
HMOX2_chr16_4471398_4515347 | 4483160 | GGTGTGTG others(9): Show |
G | intron_variant | MODIFIER | HG02622.hp2 HG02886.hp1 HG02895.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0150a0001c0001t0001g0174others(5): Show | 9 | 313 | 0.0288 | -16 | c.-42 others(33): Show |
HMOX2 | ENSG00000103415.12 | transcript | ENST00000570646.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
HMSD_chr18_63944301_63966835 | 63954437 | AGATGGAG others(9): Show |
A | frameshift_variant | HIGH | HG02109.hp2 HG02622.hp2 HG02895.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0043a0002c0003t0002g0096a0002c0003t0002g0097 | 4 | 404 | 0.0099 | -16 | c.105 others(23): Show |
p.Asp others(4): Show |
HMSD | ENSG00000221887.6 | transcript | ENST00000408945.5 | protein_coding | 3/4 | 307/2102 | 105/420 | 35/139 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |
HMSD_chr18_63944301_63966835 | 63963071 | CTCTTTCT others(9): Show |
C | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01891.hp2 HG01952.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(13): Show | 27 | 404 | 0.0668 | -16 | c.*27 others(27): Show |
HMSD | ENSG00000221887.6 | transcript | ENST00000408945.5 | protein_coding | 1237 | chr18 | TogoVar | ||||||
HNF1A_chr12_120973543_121007512 | 120984645 | TCTGACTG others(9): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(242): Show |
a0000a0001a0002others(4): Show | a0000c0020a0001c0001a0001c0003others(15): Show | a0000c0020t0001a0001c0001t0001a0001c0001t0002others(29): Show | a0000c0020t0001g0124a0001c0001t0001g0007a0001c0001t0001g0022others(211): Show | 245 | 410 | 0.5976 | -16 | c.327 others(33): Show |
HNF1A | ENSG00000135100.19 | transcript | ENST00000257555.11 | protein_coding | 1/9 | chr12 | TogoVar | ||||||
HNF1B_chr17_37681431_37750059 | 37716842 | ATCTCTCT others(9): Show |
A | intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 409 | 0.0024 | -16 | c.104 others(35): Show |
HNF1B | ENSG00000275410.6 | transcript | ENST00000617811.5 | protein_coding | 4/8 | chr17 | TogoVar | ||||||
HNF1B_chr17_37681431_37750059 | 37724903 | CGTGTGTG others(9): Show |
C | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0332 | 1 | 409 | 0.0024 | -16 | c.104 others(35): Show |
HNF1B | ENSG00000275410.6 | transcript | ENST00000617811.5 | protein_coding | 4/8 | chr17 | TogoVar | ||||||
HNF1B_chr17_37681431_37750059 | 37745931 | AATGGTGA others(9): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00733.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0019others(12): Show | 15 | 409 | 0.0367 | -16 | c.-10 others(27): Show |
HNF1B | ENSG00000275410.6 | transcript | ENST00000617811.5 | protein_coding | 873 | chr17 | TogoVar | ||||||
HNMT_chr2_137959473_138021364 | 138014971 | TTTATTGA others(9): Show |
T | 3_prime_UTR_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0007 | 1 | 332 | 0.0030 | -16 | c.*84 others(25): Show |
HNMT | ENSG00000150540.14 | transcript | ENST00000280097.5 | protein_coding | 6/6 | 842 | chr2 | TogoVar | |||||
HNRNPA1L2_chr13_52637431_52648773 | 52647392 | ATTTTTTT others(9): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(82): Show |
a0000a0002a0004others(1): Show | a0000c0004a0002c0002a0004c0005others(1): Show | a0000c0004t0001a0002c0002t0001a0002c0002t0005others(2): Show | a0000c0004t0001g0000a0002c0002t0001g0000a0002c0002t0005g0000others(2): Show | 85 | 436 | 0.1950 | -16 | c.*39 others(27): Show |
HNRNPA1L2 | ENSG00000139675.13 | transcript | ENST00000357495.5 | protein_coding | 3620 | chr13 | TogoVar | ||||||
HNRNPA3_chr2_177207794_177228959 | 177218052 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0063 | 1 | 332 | 0.0030 | -16 | c.961 others(31): Show |
HNRNPA3 | ENSG00000170144.22 | transcript | ENST00000392524.7 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
HNRNPC_chr14_21204147_21274442 | 21254833 | GAGGCGGA others(9): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02622.hp1 HG02976.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0120a0001c0001t0002g0121a0001c0001t0002g0122others(2): Show | 5 | 388 | 0.0129 | -16 | c.-37 others(33): Show |
HNRNPC | ENSG00000092199.19 | transcript | ENST00000553300.6 | protein_coding | 2/8 | chr14 | TogoVar | ||||||
HNRNPD_chr4_82347498_82378991 | 82347971 | GTATATAT others(9): Show |
G | downstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0050 | 1 | 332 | 0.0030 | -16 | c.*61 others(27): Show |
HNRNPD | ENSG00000138668.20 | transcript | ENST00000313899.12 | protein_coding | 4526 | chr4 | TogoVar | ||||||
HNRNPD_chr4_82347498_82378991 | 82349412 | CAAAAAAA others(9): Show |
C | downstream_gene_variant | MODIFIER | HG00642.hp2 HG01884.hp2 HG01891.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0038a0001c0001t0001g0094a0001c0001t0002g0008others(16): Show | 24 | 332 | 0.0723 | -16 | c.*47 others(27): Show |
HNRNPD | ENSG00000138668.20 | transcript | ENST00000313899.12 | protein_coding | 3085 | chr4 | TogoVar | ||||||
HNRNPH3_chr10_68327064_68348193 | 68330709 | CGTGTGTG others(9): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG01109.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(5): Show | 29 | 404 | 0.0718 | -16 | c.-15 others(27): Show |
HNRNPH3 | ENSG00000096746.18 | transcript | ENST00000265866.12 | protein_coding | 1354 | chr10 | TogoVar | ||||||
HNRNPLL_chr2_38556969_38607928 | 38579725 | TTTTAAAA others(9): Show |
T | intron_variant | MODIFIER | NA18950.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0262 | 1 | 338 | 0.0030 | -16 | c.802 others(33): Show |
HNRNPLL | ENSG00000143889.16 | transcript | ENST00000449105.8 | protein_coding | 6/12 | chr2 | TogoVar | ||||||
HNRNPM_chr19_8439975_8494114 | 8439991 | GGAGACGC others(9): Show |
G | upstream_gene_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 360 | 0.0028 | -16 | c.-50 others(27): Show |
HNRNPM | ENSG00000099783.13 | transcript | ENST00000325495.9 | protein_coding | 4983 | chr19 | TogoVar | ||||||
HNRNPM_chr19_8439975_8494114 | 8477660 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(76): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007others(68): Show | 79 | 360 | 0.2194 | -16 | c.112 others(35): Show |
HNRNPM | ENSG00000099783.13 | transcript | ENST00000325495.9 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
HOMER1_chr5_79367636_79519134 | 79379079 | CATATATA others(9): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG02622.hp2 HG02965.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0029others(2): Show | a0001c0001t0005g0132a0001c0001t0005g0158a0001c0001t0005g0171others(4): Show | 7 | 290 | 0.0241 | -16 | c.877 others(33): Show |
HOMER1 | ENSG00000152413.15 | transcript | ENST00000334082.11 | protein_coding | 8/8 | chr5 | TogoVar | ||||||
HOMER1_chr5_79367636_79519134 | 79379099 | TATATATA others(9): Show |
T | intron_variant | MODIFIER | HG00609.hp2 NA18993.hp1 NA18995.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009 | a0001c0001t0004g0109a0001c0001t0004g0123a0001c0001t0004g0179others(2): Show | 5 | 290 | 0.0172 | -16 | c.877 others(33): Show |
HOMER1 | ENSG00000152413.15 | transcript | ENST00000334082.11 | protein_coding | 8/8 | chr5 | TogoVar | ||||||
HOMER2_chr15_82843983_82957720 | 82845218 | TCACACAC others(9): Show |
T | downstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0314 | 1 | 348 | 0.0029 | -16 | c.*44 others(27): Show |
HOMER2 | ENSG00000103942.13 | transcript | ENST00000450735.7 | protein_coding | 3764 | chr15 | TogoVar | ||||||
HOMER2_chr15_82843983_82957720 | 82861936 | GGCAGAGG others(9): Show |
G | intron_variant | MODIFIER | HG02647.hp1 HG02717.hp2 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057a0001c0001t0001g0080a0001c0001t0001g0286others(1): Show | 4 | 348 | 0.0115 | -16 | c.387 others(33): Show |
HOMER2 | ENSG00000103942.13 | transcript | ENST00000450735.7 | protein_coding | 4/8 | chr15 | TogoVar | ||||||
HOMER2_chr15_82843983_82957720 | 82914178 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0132 | 1 | 348 | 0.0029 | -16 | c.6-2 others(31): Show |
HOMER2 | ENSG00000103942.13 | transcript | ENST00000450735.7 | protein_coding | 1/8 | chr15 | TogoVar | ||||||
HOMEZ_chr14_23267422_23291132 | 23280704 | TTTTTATT others(9): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02895.hp2 HG02896.hp2 others(1): Show |
a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0043a0001c0008t0004g0050a0001c0008t0004g0200 | 4 | 394 | 0.0102 | -16 | c.41- others(31): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
HOOK1_chr1_59809949_59881322 | 59855950 | ATATATAT others(9): Show |
A | intron_variant | MODIFIER | NA18965.hp2 NA18978.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0125a0001c0001t0008g0135 | 2 | 252 | 0.0079 | -16 | c.124 others(35): Show |
HOOK1 | ENSG00000134709.13 | transcript | ENST00000371208.5 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HOOK3_chr8_42891978_43035535 | 42990325 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02615.hp1 HG02717.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0020a0001c0001t0064others(1): Show | a0001c0001t0003g0003a0001c0001t0003g0006a0001c0001t0003g0008others(10): Show | 13 | 162 | 0.0803 | -16 | c.153 others(35): Show |
HOOK3 | ENSG00000168172.9 | transcript | ENST00000307602.9 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
HORMAD2_chr22_30075464_30182075 | 30091254 | CTCTCTTT others(9): Show |
C | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0324 | 1 | 350 | 0.0029 | -16 | c.-37 others(33): Show |
HORMAD2 | ENSG00000176635.18 | transcript | ENST00000336726.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
HORMAD2_chr22_30075464_30182075 | 30113508 | GATTACTG others(9): Show |
G | intron_variant | MODIFIER | NA19059.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 350 | 0.0029 | -16 | c.342 others(32): Show |
HORMAD2 | ENSG00000176635.18 | transcript | ENST00000336726.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
HORMAD2_chr22_30075464_30182075 | 30123643 | GTATTTAT others(9): Show |
G | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 350 | 0.0029 | -16 | c.819 others(33): Show |
HORMAD2 | ENSG00000176635.18 | transcript | ENST00000336726.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
HORMAD2_chr22_30075464_30182075 | 30129217 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 350 | 0.0029 | -16 | c.819 others(33): Show |
HORMAD2 | ENSG00000176635.18 | transcript | ENST00000336726.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
HORMAD2_chr22_30075464_30182075 | 30129241 | AAAAAAAA others(9): Show |
A | intron_variant | MODIFIER | HG02300.hp2 NA18982.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035a0001c0001t0002g0053 | 2 | 350 | 0.0057 | -16 | c.819 others(33): Show |
HORMAD2 | ENSG00000176635.18 | transcript | ENST00000336726.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
HOXA3_chr7_27102010_27157583 | 27140001 | CAGAGAGA others(9): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG02109.hp1 HG03098.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0018 | a0001c0001t0004g0192a0001c0001t0004g0203a0001c0001t0018g0195others(2): Show | 5 | 326 | 0.0153 | -16 | c.-39 others(31): Show |
HOXA3 | ENSG00000105997.23 | transcript | ENST00000612286.5 | protein_coding | 2/5 | chr7 | TogoVar | ||||||
HOXA3_chr7_27102010_27157583 | 27152077 | GGTGTGTG others(9): Show |
G | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0303 | 1 | 326 | 0.0031 | -16 | c.-49 others(33): Show |
HOXA3 | ENSG00000105997.23 | transcript | ENST00000612286.5 | protein_coding | 1/5 | chr7 | TogoVar |