view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHAF1A_chr19_4397640_4448397 | 4408461 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02300.hp2 NA19003.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 a0001c0001t0001g0211 a0001c0001t0001g0266 |
3 | 384 | 0.0078 | 14 | c.104 others(29): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHAF1A_chr19_4397640_4448397 | 4411644 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0356 | 1 | 384 | 0.0026 | 14 | c.960 others(31): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHAF1A_chr19_4397640_4448397 | 4427136 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02055.hp1 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 a0001c0001t0001g0199 |
2 | 384 | 0.0052 | 14 | c.137 others(33): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHAF1B_chr21_36380392_36424015 | 36389800 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG03098.hp2 HG06807.hp1 |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0005a0005c0006t0013 | a0001c0001t0005g0304 a0005c0006t0013g0293 |
2 | 346 | 0.0058 | 14 | c.260 others(31): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CHAF1B_chr21_36380392_36424015 | 36389800 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG02486.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0014 a0001c0001t0009g0039 |
2 | 346 | 0.0058 | 14 | c.260 others(31): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CHAF1B_chr21_36380392_36424015 | 36389800 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02818.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0034 | a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0034g0054 |
3 | 346 | 0.0087 | 14 | c.260 others(31): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132807606 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01109.hp2 HG03491.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0032 a0001c0001t0001g0058 others(1): Show |
4 | 310 | 0.0129 | 14 | c.525 others(33): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 6/7 | chr7 | TogoVar | |||||||
CHCHD3_chr7_132779870_133087090 | 132955173 | G | GGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01106.hp1 HG01516.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0020 a0001c0001t0001g0146 a0001c0001t0001g0156 others(15): Show |
18 | 310 | 0.0581 | 14 | c.369 others(33): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
CHCHD3_chr7_132779870_133087090 | 132963694 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(115): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0035 others(115): Show |
118 | 310 | 0.3807 | 14 | c.369 others(33): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
CHCHD3_chr7_132779870_133087090 | 132965059 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01496.hp1 HG02071.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(10): Show |
13 | 310 | 0.0419 | 14 | c.369 others(33): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
CHCHD3_chr7_132779870_133087090 | 132990951 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG01074.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0168 others(13): Show |
16 | 310 | 0.0516 | 14 | c.252 others(33): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 3/7 | chr7 | TogoVar | |||||||
CHCHD3_chr7_132779870_133087090 | 133027363 | A | AAGAGAGA others(7): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 310 | 0.0032 | 14 | c.170 others(31): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 2/7 | chr7 | TogoVar | |||||||
CHCHD6_chr3_126699240_126965420 | 126737390 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02280.hp2 HG02630.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0113 a0002c0002t0001g0017 a0002c0002t0001g0018 others(2): Show |
5 | 216 | 0.0232 | 14 | c.411 others(31): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126824560 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG03041.hp1 NA20905.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0078 a0002c0002t0002g0097 |
2 | 216 | 0.0093 | 14 | c.412 others(33): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126910273 | G | GAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(105): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(3): Show | a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 others(105): Show |
108 | 216 | 0.5000 | 14 | c.496 others(31): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126913207 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 a0001c0001t0001g0113 a0001c0001t0001g0114 |
3 | 216 | 0.0139 | 14 | c.496 others(31): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHD1L_chr1_147237684_147300762 | 147299000 | C | CTTTTTTT others(7): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG01081.hp2 others(14): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0003a0001c0014t0003 | a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0204 others(13): Show |
17 | 418 | 0.0407 | 14 | c.*34 others(25): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 3239 | chr1 | TogoVar | |||||||
CHD1_chr5_98848985_98934007 | 98871369 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0002 | a0002c0002t0024 | a0002c0002t0024g0045 | 1 | 334 | 0.0030 | 14 | c.386 others(31): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 28/35 | chr5 | TogoVar | |||||||
CHD1_chr5_98848985_98934007 | 98883826 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0254 | 1 | 334 | 0.0030 | 14 | c.256 others(31): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 18/35 | chr5 | TogoVar | |||||||
CHD1_chr5_98848985_98934007 | 98917299 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(90): Show |
a0001a0005 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0044 a0001c0001t0001g0090 a0001c0001t0001g0091 others(90): Show |
93 | 334 | 0.2784 | 14 | c.53+ others(29): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 2/35 | chr5 | TogoVar | |||||||
CHD1_chr5_98848985_98934007 | 98917299 | C | CCAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01243.hp2 NA19240.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0003t0002g0227 others(1): Show |
4 | 334 | 0.0120 | 14 | c.53+ others(29): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 2/35 | chr5 | TogoVar | |||||||
CHD2_chr15_92895324_93032996 | 92993568 | A | AAGATATA others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(77): Show |
a0001a0003 | a0001c0001a0001c0005a0001c0021others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0027 others(76): Show |
80 | 306 | 0.2614 | 14 | c.359 others(31): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 28/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHD3_chr17_7883789_7917755 | 7884071 | A | AACACACA others(7): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 | 1 | 366 | 0.0027 | 14 | c.-49 others(25): Show |
CHD3 | ENSG00000170004.19 | transcript | ENST00000330494.12 | protein_coding | 4717 | chr17 | TogoVar | |||||||
CHD3_chr17_7883789_7917755 | 7884446 | T | TTATATAT others(7): Show |
upstream_gene_variant | MODIFIER | NA18949.hp1 NA18980.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 2 | 366 | 0.0055 | 14 | c.-45 others(25): Show |
CHD3 | ENSG00000170004.19 | transcript | ENST00000330494.12 | protein_coding | 4342 | chr17 | TogoVar | |||||||
CHD3_chr17_7883789_7917755 | 7884457 | C | CATATATA others(7): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00673.hp2 HG02015.hp2 others(13): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0041 others(8): Show |
16 | 366 | 0.0437 | 14 | c.-45 others(25): Show |
CHD3 | ENSG00000170004.19 | transcript | ENST00000330494.12 | protein_coding | 4331 | chr17 | TogoVar | |||||||
CHD5_chr1_6096787_6185321 | 6160092 | A | AGGGCCCC others(7): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0012 | a0002c0012t0052 | a0002c0012t0052g0045 | 1 | 320 | 0.0031 | 14 | c.208 others(29): Show |
CHD5 | ENSG00000116254.18 | transcript | ENST00000262450.8 | protein_coding | 2/41 | chr1 | TogoVar | |||||||
CHD6_chr20_41397083_41623377 | 41419554 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 324 | 0.0031 | 14 | c.612 others(31): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 31/36 | chr20 | TogoVar | |||||||
CHD6_chr20_41397083_41623377 | 41431776 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00597.hp2 others(51): Show |
a0001a0003a0012others(4): Show | a0001c0001a0003c0027a0012c0022others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 others(51): Show |
54 | 324 | 0.1667 | 14 | c.406 others(33): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 27/36 | chr20 | TogoVar | |||||||
CHD6_chr20_41397083_41623377 | 41504077 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02970.hp1 NA19058.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0228 a0001c0001t0002g0237 a0001c0002t0001g0052 |
3 | 324 | 0.0093 | 14 | c.853 others(31): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 5/36 | chr20 | TogoVar | |||||||
CHD6_chr20_41397083_41623377 | 41559147 | G | GACACACA others(7): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0003 | a0003c0027 | a0003c0027t0001 | a0003c0027t0001g0003 | 1 | 324 | 0.0031 | 14 | c.-23 others(31): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 1/36 | chr20 | TogoVar | |||||||
CHD6_chr20_41397083_41623377 | 41579437 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0242 | 1 | 324 | 0.0031 | 14 | c.-23 others(33): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 1/36 | chr20 | TogoVar | |||||||
CHD7_chr8_60673740_60873028 | 60816113 | G | GTCTCTCT others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0111 | 1 | 236 | 0.0042 | 14 | c.249 others(31): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CHD7_chr8_60673740_60873028 | 60816113 | G | GTCTGTCT others(7): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0100 | 1 | 236 | 0.0042 | 14 | c.249 others(31): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CHD9NB_chr16_53036484_53057897 | 53049322 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0040 | a0001c0001t0023g0057 a0001c0001t0040g0117 |
2 | 406 | 0.0049 | 14 | c.-18 others(33): Show |
CHD9NB | ENSG00000277639.3 | transcript | ENST00000619363.3 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
CHD9NB_chr16_53036484_53057897 | 53051768 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0132 | 1 | 406 | 0.0025 | 14 | c.-18 others(31): Show |
CHD9NB | ENSG00000277639.3 | transcript | ENST00000619363.3 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
CHD9_chr16_53049991_53332497 | 53051768 | A | AATATATA others(7): Show |
upstream_gene_variant | MODIFIER | NA19066.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0034 | 1 | 238 | 0.0042 | 14 | c.-34 others(25): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 3222 | chr16 | TogoVar | |||||||
CHD9_chr16_53049991_53332497 | 53063358 | T | TCACACAC others(7): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0029 | 1 | 238 | 0.0042 | 14 | c.-16 others(33): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHDH_chr3_53807335_53851419 | 53810758 | C | CAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG02976.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0021 | a0001c0001t0010g0002 a0001c0001t0021g0028 a0001c0001t0021g0227 |
4 | 392 | 0.0102 | 14 | c.*70 others(25): Show |
CHDH | ENSG00000016391.11 | transcript | ENST00000315251.11 | protein_coding | 1576 | chr3 | TogoVar | |||||||
CHDH_chr3_53807335_53851419 | 53828162 | G | GACACACA others(7): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01943.hp1 HG01978.hp1 others(7): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0170a0002c0002t0003a0002c0002t0039others(3): Show | a0001c0003t0170g0326 a0002c0002t0003g0023 a0002c0002t0003g0085 others(6): Show |
10 | 392 | 0.0255 | 14 | c.-59 others(31): Show |
CHDH | ENSG00000016391.11 | transcript | ENST00000315251.11 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
CHDH_chr3_53807335_53851419 | 53830402 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | HG02630.hp1 NA18906.hp1 |
a0001 | a0001c0003 | a0001c0003t0160a0001c0003t0161 | a0001c0003t0160g0218 a0001c0003t0161g0217 |
2 | 392 | 0.0051 | 14 | c.-59 others(31): Show |
CHDH | ENSG00000016391.11 | transcript | ENST00000315251.11 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
CHEK2_chr22_28682743_28746820 | 28698228 | T | TAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(62): Show |
a0001a0009a0010 | a0001c0001a0009c0011a0010c0013 | a0001c0001t0001a0009c0011t0001a0010c0013t0001 | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0017 others(62): Show |
65 | 384 | 0.1693 | 14 | c.100 others(33): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 9/14 | chr22 | TogoVar | |||||||
CHEK2_chr22_28682743_28746820 | 28702135 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01243.hp1 HG01943.hp1 others(12): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0001 | a0001c0001t0001g0002 a0001c0001t0001g0149 a0001c0001t0001g0168 others(11): Show |
15 | 384 | 0.0391 | 14 | c.908 others(31): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 8/14 | chr22 | TogoVar | |||||||
CHEK2_chr22_28682743_28746820 | 28708361 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 384 | 0.0026 | 14 | c.846 others(31): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 7/14 | chr22 | TogoVar | |||||||
CHEK2_chr22_28682743_28746820 | 28708363 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01069.hp1 HG01074.hp1 others(6): Show |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0001a0007c0010t0001 | a0001c0001t0001g0009 a0001c0001t0001g0068 a0001c0001t0001g0070 others(6): Show |
9 | 384 | 0.0234 | 14 | c.846 others(31): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 7/14 | chr22 | TogoVar | |||||||
CHEK2_chr22_28682743_28746820 | 28729540 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 | 1 | 384 | 0.0026 | 14 | c.320 others(31): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 2/14 | chr22 | TogoVar | |||||||
CHFR_chr12_132827356_132892605 | 132829922 | A | ATGTATGA others(7): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(359): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0001c0012others(17): Show | a0001c0001t0006a0001c0001t0008a0001c0001t0009others(152): Show | a0001c0001t0006g0126 a0001c0001t0006g0132 a0001c0001t0006g0134 others(338): Show |
362 | 378 | 0.9577 | 14 | c.*11 others(27): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 2433 | chr12 | TogoVar | |||||||
CHGB_chr20_5906510_5930353 | 5918163 | A | AACAAACA others(7): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02976.hp1 others(1): Show |
a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0049 a0007c0007t0001g0140 a0007c0007t0001g0141 |
4 | 440 | 0.0091 | 14 | c.190 others(31): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CHI3L2_chr1_111222713_111248440 | 111229681 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00738.hp1 HG00738.hp2 others(20): Show |
a0002a0004a0007 | a0002c0003a0004c0006a0007c0008 | a0002c0003t0001a0004c0006t0005a0007c0008t0001 | a0002c0003t0001g0005 a0002c0003t0001g0020 a0002c0003t0001g0112 others(3): Show |
23 | 434 | 0.0530 | 14 | c.41- others(27): Show |
CHI3L2 | ENSG00000064886.14 | transcript | ENST00000369748.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHIA_chr1_111285851_111325563 | 111319160 | A | ATACCCCT others(7): Show |
frameshift_variant | HIGH | NA19043.hp2 | a0018 | a0018c0023 | a0018c0023t0005 | a0018c0023t0005g0140 | 1 | 426 | 0.0024 | 14 | c.957 others(21): Show |
p.Ala others(5): Show |
CHIA | ENSG00000134216.19 | transcript | ENST00000369740.6 | protein_coding | 10/12 | 1126/1696 | 958/1431 | 320/476 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
CHIA_chr1_111285851_111325563 | 111319160 | A | ATGCCCCT others(7): Show |
frameshift_variant | HIGH | HG02257.hp2 HG02486.hp1 HG02818.hp1 others(1): Show |
a0008 | a0008c0011 | a0008c0011t0002 | a0008c0011t0002g0110 a0008c0011t0002g0245 a0008c0011t0002g0260 others(1): Show |
4 | 426 | 0.0094 | 14 | c.961 others(21): Show |
p.Tyr others(5): Show |
CHIA | ENSG00000134216.19 | transcript | ENST00000369740.6 | protein_coding | 10/12 | 1143/1696 | 975/1431 | 325/476 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |