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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHAD_chr17_50459496_50473880 | 50461927 | G | GGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 HG01099.hp2 HG01884.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0036a0001c0001t0002g0002a0001c0001t0003g0007others(8): Show | 28 | 386 | 0.0725 | 8 | c.*31 others(19): Show |
CHAD | ENSG00000136457.10 | transcript | ENST00000508540.6 | protein_coding | 2568 | chr17 | TogoVar | ||||||
CHAF1A_chr19_4397640_4448397 | 4401604 | A | AAAGGAAG others(1): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG01516.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0245 | 3 | 384 | 0.0078 | 8 | c.-11 others(19): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 1035 | chr19 | TogoVar | ||||||
CHAF1A_chr19_4397640_4448397 | 4401608 | A | AAAGGAAG others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp1 others(111): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0003others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0009others(110): Show | 114 | 384 | 0.2969 | 8 | c.-11 others(19): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 1031 | chr19 | TogoVar | ||||||
CHAF1A_chr19_4397640_4448397 | 4408461 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01070.hp1 HG01071.hp1 others(17): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0002c0002t0002a0003c0004t0002 | a0001c0001t0001g0129a0001c0001t0001g0161a0001c0001t0001g0162others(17): Show | 20 | 384 | 0.0521 | 8 | c.104 others(23): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHAF1B_chr21_36380392_36424015 | 36389759 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02602.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0184a0001c0001t0008g0047a0001c0001t0008g0048 | 3 | 346 | 0.0087 | 8 | c.260 others(25): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CHAF1B_chr21_36380392_36424015 | 36389800 | T | TGCGCGCG others(1): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02451.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0011 | a0001c0001t0003g0025a0001c0001t0005g0297a0001c0001t0011g0017 | 3 | 346 | 0.0087 | 8 | c.260 others(25): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CHAF1B_chr21_36380392_36424015 | 36389800 | T | TGTGCGCG others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01256.hp1 HG01891.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0002g0272a0001c0001t0003g0026a0001c0001t0003g0027others(4): Show | 7 | 346 | 0.0202 | 8 | c.260 others(25): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CHAF1B_chr21_36380392_36424015 | 36389800 | T | TGTGTGCG others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01975.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0033 | a0001c0001t0001g0053a0001c0001t0001g0284a0001c0001t0002g0010others(11): Show | 15 | 346 | 0.0434 | 8 | c.260 others(25): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CHAF1B_chr21_36380392_36424015 | 36420336 | G | GTTCATTC others(1): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG00673.hp1 HG00735.hp2 others(79): Show |
a0001a0003 | a0001c0001a0001c0008a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(75): Show | 82 | 346 | 0.2370 | 8 | c.*39 others(19): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 1322 | chr21 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132807606 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01099.hp1 HG01884.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0045a0001c0001t0001g0123others(6): Show | 9 | 310 | 0.0290 | 8 | c.525 others(27): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 6/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132824314 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01516.hp2 HG01884.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0019a0001c0001t0001g0021others(5): Show | 8 | 310 | 0.0258 | 8 | c.524 others(27): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 6/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132834947 | C | CATTTATT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02630.hp1 HG02886.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025a0001c0001t0001g0030a0001c0001t0001g0031others(14): Show | 17 | 310 | 0.0548 | 8 | c.524 others(25): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 6/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132862064 | T | TGATGGAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01255.hp2 HG01891.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0015a0001c0001t0001g0020a0001c0001t0001g0029others(14): Show | 17 | 310 | 0.0548 | 8 | c.453 others(27): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 5/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132914121 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02572.hp1 NA19030.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145a0001c0001t0001g0150a0001c0001t0001g0155 | 3 | 310 | 0.0097 | 8 | c.370 others(27): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132914123 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01261.hp1 HG02622.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0002c0002t0001 | a0001c0001t0001g0048a0001c0001t0001g0131a0001c0001t0001g0147others(6): Show | 9 | 310 | 0.0290 | 8 | c.370 others(27): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132919100 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01074.hp1 HG01123.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158a0001c0001t0001g0159a0001c0001t0001g0165others(11): Show | 14 | 310 | 0.0452 | 8 | c.370 others(27): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132955173 | G | GGGGTGTG others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01516.hp2 HG01884.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0013others(4): Show | 7 | 310 | 0.0226 | 8 | c.369 others(27): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132955173 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01081.hp2 HG01099.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0018others(11): Show | 14 | 310 | 0.0452 | 8 | c.369 others(27): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132965059 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01361.hp2 HG03490.hp1 HG03492.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0030a0001c0001t0001g0039others(9): Show | 12 | 310 | 0.0387 | 8 | c.369 others(27): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132990951 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(43): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0014a0001c0001t0001g0146a0001c0001t0001g0212others(43): Show | 46 | 310 | 0.1484 | 8 | c.252 others(27): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 3/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 133006466 | C | CATAAATA others(1): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG02976.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0053others(2): Show | 5 | 310 | 0.0161 | 8 | c.251 others(27): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 3/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 133015348 | T | TTAAATAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(188): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(188): Show | 191 | 310 | 0.6161 | 8 | c.251 others(25): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 3/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 133027362 | T | TGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01070.hp1 HG01243.hp2 others(19): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0002 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(19): Show | 22 | 310 | 0.0710 | 8 | c.170 others(25): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 2/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 133027363 | A | AAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(108): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(108): Show | 111 | 310 | 0.3581 | 8 | c.170 others(25): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 2/7 | chr7 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126737390 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02015.hp2 HG02132.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0088a0001c0001t0001g0112a0001c0001t0001g0211others(16): Show | 19 | 216 | 0.0880 | 8 | c.411 others(25): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126737390 | G | GTGTATAT others(1): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02559.hp1 |
a0002a0006 | a0002c0002a0006c0008 | a0002c0002t0002a0006c0008t0002 | a0002c0002t0002g0095a0006c0008t0002g0098 | 2 | 216 | 0.0093 | 8 | c.411 others(25): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126755838 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088a0001c0001t0001g0113a0001c0001t0001g0114 | 3 | 216 | 0.0139 | 8 | c.411 others(27): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126915977 | G | GTTTCTAC others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01109.hp1 HG01346.hp2 others(15): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0008 | a0001c0001t0001a0002c0002t0002a0006c0008t0002 | a0001c0001t0001g0099a0001c0001t0001g0100a0001c0001t0001g0101others(15): Show | 18 | 216 | 0.0833 | 8 | c.566 others(25): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 6/7 | chr3 | TogoVar | ||||||
CHD1L_chr1_147237684_147300762 | 147288322 | C | CATAAAAA others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01891.hp1 HG02615.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0240a0001c0004t0001g0056a0001c0004t0001g0057others(2): Show | 5 | 418 | 0.0120 | 8 | c.232 others(25): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHD1L_chr1_147237684_147300762 | 147288346 | A | AAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01257.hp1 HG01258.hp1 others(17): Show |
a0001 | a0001c0001a0001c0010a0001c0014 | a0001c0001t0003a0001c0010t0003a0001c0014t0003 | a0001c0001t0003g0019a0001c0001t0003g0209a0001c0001t0003g0210others(13): Show | 20 | 418 | 0.0479 | 8 | c.232 others(25): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 19/22 | chr1 | TogoVar | ||||||
CHD1_chr5_98848985_98934007 | 98869622 | G | GCGCACAC others(1): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02055.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001a0001c0005t0022 | a0001c0001t0001g0097a0001c0005t0001g0042a0001c0005t0022g0043 | 3 | 334 | 0.0090 | 8 | c.410 others(25): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 30/35 | chr5 | TogoVar | ||||||
CHD1_chr5_98848985_98934007 | 98917299 | C | CCAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG00741.hp2 others(28): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0005a0002c0002t0010others(2): Show | a0002c0002t0002g0100a0002c0002t0002g0101a0002c0002t0002g0108others(27): Show | 31 | 334 | 0.0928 | 8 | c.53+ others(23): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 2/35 | chr5 | TogoVar | ||||||
CHD2_chr15_92895324_93032996 | 92909939 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | NA18959.hp2 NA19081.hp2 NA20752.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0004 | a0001c0002t0001g0242a0001c0002t0001g0255a0001c0005t0004g0153 | 3 | 306 | 0.0098 | 8 | c.62+ others(23): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHD2_chr15_92895324_93032996 | 92944864 | T | TAGTGAAG others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00558.hp1 others(49): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(11): Show | a0001c0001t0001g0016a0001c0002t0001g0233a0001c0002t0001g0234others(49): Show | 52 | 306 | 0.1699 | 8 | c.115 others(25): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 10/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHD2_chr15_92895324_93032996 | 92980037 | T | TTTTGTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(236): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0007others(233): Show | 239 | 306 | 0.7811 | 8 | c.287 others(25): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 22/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHD3_chr17_7883789_7917755 | 7884071 | A | AACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG01975.hp2 HG01978.hp2 others(22): Show |
a0001a0002a0006 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0002others(2): Show | a0001c0001t0001g0022a0001c0001t0001g0048a0001c0001t0001g0054others(12): Show | 25 | 366 | 0.0683 | 8 | c.-49 others(19): Show |
CHD3 | ENSG00000170004.19 | transcript | ENST00000330494.12 | protein_coding | 4717 | chr17 | TogoVar | ||||||
CHD3_chr17_7883789_7917755 | 7884457 | C | CATATATA others(1): Show |
upstream_gene_variant | MODIFIER | HG02738.hp2 NA19000.hp2 NA19056.hp2 others(3): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0017 | a0001c0001t0001a0002c0002t0001a0006c0017t0001 | a0001c0001t0001g0164a0002c0002t0001g0005a0002c0002t0001g0171others(2): Show | 6 | 366 | 0.0164 | 8 | c.-45 others(19): Show |
CHD3 | ENSG00000170004.19 | transcript | ENST00000330494.12 | protein_coding | 4331 | chr17 | TogoVar | ||||||
CHD5_chr1_6096787_6185321 | 6106845 | A | AGGATGGA others(1): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01256.hp1 HG02293.hp1 |
a0001 | a0001c0007 | a0001c0007t0044a0001c0007t0058a0001c0007t0059 | a0001c0007t0044g0016a0001c0007t0058g0028a0001c0007t0059g0029 | 3 | 320 | 0.0094 | 8 | c.557 others(23): Show |
CHD5 | ENSG00000116254.18 | transcript | ENST00000262450.8 | protein_coding | 38/41 | chr1 | TogoVar | ||||||
CHD5_chr1_6096787_6185321 | 6107072 | T | TGATGGAG others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00423.hp2 others(113): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(16): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(54): Show | a0001c0001t0003g0079a0001c0001t0003g0097a0001c0001t0003g0114others(113): Show | 116 | 320 | 0.3625 | 8 | c.557 others(25): Show |
CHD5 | ENSG00000116254.18 | transcript | ENST00000262450.8 | protein_coding | 38/41 | chr1 | TogoVar | ||||||
CHD5_chr1_6096787_6185321 | 6132880 | T | TTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00438.hp2 others(32): Show |
a0001 | a0001c0001a0001c0003a0001c0009others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(12): Show | a0001c0001t0003g0079a0001c0001t0003g0097a0001c0001t0003g0114others(32): Show | 35 | 320 | 0.1094 | 8 | c.314 others(27): Show |
CHD5 | ENSG00000116254.18 | transcript | ENST00000262450.8 | protein_coding | 20/41 | chr1 | TogoVar | ||||||
CHD5_chr1_6096787_6185321 | 6149709 | A | AATGGATG others(1): Show |
intron_variant | MODIFIER | NA18979.hp2 NA19009.hp2 NA19066.hp1 |
a0001 | a0001c0003a0001c0011 | a0001c0003t0008a0001c0003t0036a0001c0011t0048 | a0001c0003t0008g0280a0001c0003t0036g0008a0001c0011t0048g0185 | 3 | 320 | 0.0094 | 8 | c.995 others(23): Show |
CHD5 | ENSG00000116254.18 | transcript | ENST00000262450.8 | protein_coding | 7/41 | chr1 | TogoVar | ||||||
CHD5_chr1_6096787_6185321 | 6150431 | A | AGGATGGA others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02647.hp1 HG03453.hp1 |
a0001a0002 | a0001c0009a0001c0010a0002c0006 | a0001c0009t0041a0001c0010t0012a0002c0006t0061 | a0001c0009t0041g0014a0001c0010t0012g0043a0002c0006t0061g0061 | 3 | 320 | 0.0094 | 8 | c.994 others(23): Show |
CHD5 | ENSG00000116254.18 | transcript | ENST00000262450.8 | protein_coding | 7/41 | chr1 | TogoVar | ||||||
CHD5_chr1_6096787_6185321 | 6175681 | A | AATGGATG others(1): Show |
intron_variant | MODIFIER | HG03486.hp1 HG03516.hp1 HG03540.hp1 |
a0001 | a0001c0009a0001c0021 | a0001c0009t0011a0001c0021t0005 | a0001c0009t0011g0252a0001c0021t0005g0026a0001c0021t0005g0027 | 3 | 320 | 0.0094 | 8 | c.79+ others(23): Show |
CHD5 | ENSG00000116254.18 | transcript | ENST00000262450.8 | protein_coding | 1/41 | chr1 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41432160 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG01258.hp1 others(51): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0275a0001c0002t0001g0145a0001c0002t0001g0152others(51): Show | 54 | 324 | 0.1667 | 8 | c.406 others(27): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 27/36 | chr20 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41555449 | G | GGGGGGAG others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01167.hp1 HG01243.hp1 others(15): Show |
a0001a0010a0011others(1): Show | a0001c0001a0001c0025a0010c0021others(2): Show | a0001c0001t0001a0001c0001t0013a0001c0025t0001others(3): Show | a0001c0001t0001g0202a0001c0001t0001g0203a0001c0001t0001g0204others(15): Show | 18 | 324 | 0.0556 | 8 | c.-23 others(25): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 1/36 | chr20 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41579437 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02273.hp1 HG03490.hp1 others(5): Show |
a0002a0007a0019 | a0002c0004a0007c0012a0019c0027 | a0002c0004t0004a0007c0012t0004a0019c0027t0001 | a0002c0004t0004g0311a0002c0004t0004g0312a0002c0004t0004g0314others(5): Show | 8 | 324 | 0.0247 | 8 | c.-23 others(27): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 1/36 | chr20 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41610760 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01361.hp2 others(9): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0025others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0055a0001c0001t0002g0195a0001c0001t0002g0196others(9): Show | 12 | 324 | 0.0370 | 8 | c.-24 others(25): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 1/36 | chr20 | TogoVar | ||||||
CHD7_chr8_60673740_60873028 | 60680408 | G | GGCGGGGG others(1): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01255.hp1 HG02155.hp2 others(19): Show |
a0001a0005 | a0001c0001a0005c0020 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(6): Show | a0001c0001t0002g0131a0001c0001t0004g0036a0001c0001t0004g0040others(19): Show | 22 | 236 | 0.0932 | 8 | c.-17 others(27): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHD7_chr8_60673740_60873028 | 60810380 | A | AGAGTGTG others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01515.hp2 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0046a0001c0001t0003g0047a0001c0001t0003g0148 | 3 | 236 | 0.0127 | 8 | c.249 others(27): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHD7_chr8_60673740_60873028 | 60816095 | T | TTGTCTGT others(1): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03195.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0014 | a0001c0001t0009g0227a0001c0001t0009g0228a0001c0001t0014g0233 | 3 | 236 | 0.0127 | 8 | c.249 others(25): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |