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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFI_chr4_109735695_109806999 | 109753128 | A | ATTTATAT others(2): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01243.hp1 HG02280.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0003 | a0001c0001t0001g0148 a0001c0002t0001g0119 a0001c0002t0001g0121 others(5): Show |
8 | 352 | 0.0227 | 9 | c.905 others(24): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | |||||||
CFI_chr4_109735695_109806999 | 109777522 | C | CAATAATA others(2): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01433.hp1 HG01928.hp1 others(9): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0003a0003c0004t0001 | a0001c0001t0001g0002 a0001c0001t0001g0282 a0001c0001t0001g0283 others(7): Show |
12 | 352 | 0.0341 | 9 | c.58- others(26): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 1/12 | chr4 | TogoVar | |||||||
CFLAR_chr2_201111164_201181687 | 201114047 | T | TATATATA others(2): Show |
upstream_gene_variant | MODIFIER | HG01261.hp1 HG04115.hp2 |
a0001 | a0001c0002 | a0001c0002t0014a0001c0002t0021 | a0001c0002t0014g0093 a0001c0002t0021g0068 |
2 | 180 | 0.0111 | 9 | c.-25 others(20): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 2116 | chr2 | TogoVar | |||||||
CFLAR_chr2_201111164_201181687 | 201158849 | C | CATTATTA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00609.hp2 others(21): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004a0001c0002t0008others(12): Show | a0001c0002t0003g0009 a0001c0002t0003g0081 a0001c0002t0003g0088 others(19): Show |
24 | 167 | 0.1437 | 9 | c.794 others(26): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CGAS_chr6_73418711_73457297 | 73453568 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00597.hp2 others(14): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0013a0001c0002t0016a0001c0002t0043others(5): Show | a0001c0002t0013g0042 a0001c0002t0016g0019 a0001c0002t0043g0071 others(13): Show |
17 | 45 | 0.3778 | 9 | c.-13 others(20): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 1272 | chr6 | TogoVar | |||||||
CGB1_chr19_49030569_49041895 | 49035137 | A | ATATTATT others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00597.hp2 others(47): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0002g0001 others(7): Show |
50 | 154 | 0.3247 | 9 | c.*47 others(18): Show |
CGB1 | ENSG00000267631.5 | transcript | ENST00000301407.8 | protein_coding | 431 | chr19 | TogoVar | |||||||
CGB2_chr19_49026890_49038238 | 49035137 | A | ATATTATT others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00597.hp2 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 51 | 156 | 0.3269 | 9 | c.*19 others(20): Show |
CGB2 | ENSG00000104818.15 | transcript | ENST00000359342.7 | protein_coding | 1900 | chr19 | TogoVar | |||||||
CGB7_chr19_49049274_49062749 | 49060036 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG01255.hp2 HG01346.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0010 | a0001c0001t0002a0001c0001t0009a0001c0001t0012others(3): Show | a0001c0001t0002g0002 a0001c0001t0009g0015 a0001c0001t0012g0019 others(3): Show |
8 | 81 | 0.0988 | 9 | c.-39 others(20): Show |
CGB7 | ENSG00000196337.14 | transcript | ENST00000684222.1 | protein_coding | 2288 | chr19 | TogoVar | |||||||
CGGBP1_chr3_88046950_88064005 | 88050344 | A | ATTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(38): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0027 others(5): Show |
41 | 132 | 0.3106 | 9 | c.*51 others(20): Show |
CGGBP1 | ENSG00000163320.12 | transcript | ENST00000482016.6 | protein_coding | 1605 | chr3 | TogoVar | |||||||
CGNL1_chr15_57371505_57555717 | 57383299 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG01070.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0015others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0002g0129 others(11): Show |
14 | 292 | 0.0479 | 9 | c.-16 others(26): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57414661 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG02602.hp2 HG03239.hp2 HG03490.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0040 | a0001c0001t0001a0001c0001t0002a0002c0002t0003others(1): Show | a0001c0001t0001g0165 a0001c0001t0001g0189 a0001c0001t0002g0070 others(3): Show |
6 | 27 | 0.2222 | 9 | c.-15 others(28): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57442182 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG01123.hp2 others(9): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0002a0004c0025others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0049 a0001c0001t0001g0230 a0001c0001t0002g0060 others(9): Show |
12 | 28 | 0.4286 | 9 | c.169 others(26): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57470256 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01109.hp1 others(23): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0002c0038others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0002g0067 others(23): Show |
26 | 46 | 0.5652 | 9 | c.240 others(28): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGN_chr1_151506387_151543692 | 151527950 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01071.hp2 HG01255.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0003 a0002c0002t0002g0001 a0002c0002t0002g0065 others(2): Show |
10 | 158 | 0.0633 | 9 | c.189 others(26): Show |
CGN | ENSG00000143375.15 | transcript | ENST00000271636.12 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CGN_chr1_151506387_151543692 | 151527950 | A | ATATATTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00673.hp1 HG01169.hp1 others(71): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0004a0001c0009others(9): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(16): Show | a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0025 others(43): Show |
74 | 222 | 0.3333 | 9 | c.189 others(26): Show |
CGN | ENSG00000143375.15 | transcript | ENST00000271636.12 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CGN_chr1_151506387_151543692 | 151527950 | A | ATATTTTT others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01256.hp2 HG02027.hp1 others(4): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0002c0002t0002a0005c0005t0003 | a0001c0001t0001g0003 a0002c0002t0002g0001 a0002c0002t0002g0009 others(1): Show |
7 | 155 | 0.0452 | 9 | c.189 others(26): Show |
CGN | ENSG00000143375.15 | transcript | ENST00000271636.12 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CGREF1_chr2_27095594_27124128 | 27116924 | T | TCTCTCTC others(2): Show |
intron_variant | MODIFIER | HG02895.hp2 HG03704.hp1 NA18956.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 |
3 | 315 | 0.0095 | 9 | c.-12 others(26): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
CHAF1A_chr19_4397640_4448397 | 4402662 | G | GGCGGCAG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(59): Show |
a0001a0006a0010 | a0001c0001a0001c0003a0006c0008others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0010others(6): Show | a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 others(56): Show |
62 | 382 | 0.1623 | 9 | c.-95 others(16): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 1/15 | 86 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHAF1A_chr19_4397640_4448397 | 4408461 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01516.hp2 HG01517.hp2 others(8): Show |
a0001a0002a0014 | a0001c0001a0002c0002a0014c0016 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0166 a0001c0001t0003g0324 a0001c0001t0004g0325 others(8): Show |
11 | 54 | 0.2037 | 9 | c.104 others(24): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHAF1A_chr19_4397640_4448397 | 4427136 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01069.hp1 HG01074.hp1 others(33): Show |
a0001 | a0001c0001a0001c0026 | a0001c0001t0001a0001c0026t0001 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0146 others(31): Show |
36 | 42 | 0.8571 | 9 | c.137 others(28): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHAF1B_chr21_36380392_36424015 | 36382616 | T | TGCAACCT others(2): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00639.hp1 others(100): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0005a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0011 others(92): Show |
103 | 344 | 0.2994 | 9 | c.-29 others(20): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 2775 | chr21 | TogoVar | |||||||
CHCHD3_chr7_132779870_133087090 | 132919100 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01070.hp2 HG01081.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 a0001c0001t0001g0170 a0001c0001t0001g0172 others(6): Show |
9 | 91 | 0.0989 | 9 | c.370 others(28): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
CHCHD6_chr3_126699240_126965420 | 126824560 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00639.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0151 others(12): Show |
15 | 19 | 0.7895 | 9 | c.412 others(28): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126861565 | A | ACCTCATC others(2): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02257.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 others(1): Show |
4 | 214 | 0.0187 | 9 | c.495 others(26): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126862588 | A | ACCACCTC others(2): Show |
intron_variant | MODIFIER | HG02738.hp2 HG04228.hp1 NA18971.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 a0002c0002t0001g0066 a0002c0002t0001g0073 |
3 | 197 | 0.0152 | 9 | c.495 others(26): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126862852 | T | TCCTCCTC others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp2 others(51): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 others(51): Show |
54 | 214 | 0.2523 | 9 | c.495 others(28): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126960551 | T | TGCAGCAG others(2): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 HG01981.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 a0001c0001t0001g0212 |
2 | 214 | 0.0093 | 9 | c.*35 others(18): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 132 | chr3 | TogoVar | |||||||
CHD1L_chr1_147237684_147300762 | 147299000 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 HG02723.hp2 HG02922.hp2 others(3): Show |
a0005a0009 | a0005c0008a0009c0016 | a0005c0008t0001a0009c0016t0001 | a0005c0008t0001g0033 a0005c0008t0001g0187 a0005c0008t0001g0188 others(3): Show |
6 | 31 | 0.1935 | 9 | c.*34 others(20): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 3239 | chr1 | TogoVar | |||||||
CHD1L_chr1_147237684_147300762 | 147300012 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00642.hp1 others(38): Show |
a0003a0007a0010 | a0003c0003a0003c0012a0007c0015others(1): Show | a0003c0003t0002a0003c0012t0002a0007c0015t0002others(1): Show | a0003c0003t0002g0004 a0003c0003t0002g0006 a0003c0003t0002g0032 others(30): Show |
41 | 294 | 0.1395 | 9 | c.*45 others(20): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 4251 | chr1 | TogoVar | |||||||
CHD2_chr15_92895324_93032996 | 93016779 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00558.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0281 a0001c0001t0002g0278 a0001c0001t0002g0293 others(23): Show |
26 | 65 | 0.4000 | 9 | c.490 others(28): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 37/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHD3_chr17_7883789_7917755 | 7885064 | G | GCCGCCGC others(2): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG00642.hp2 HG00735.hp2 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0033 a0001c0003t0001g0006 a0001c0003t0001g0031 others(5): Show |
16 | 364 | 0.0440 | 9 | c.-39 others(20): Show |
CHD3 | ENSG00000170004.19 | transcript | ENST00000330494.12 | protein_coding | 3724 | chr17 | TogoVar | |||||||
CHD3_chr17_7883789_7917755 | 7885307 | C | CCCGCCGC others(2): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 HG01167.hp2 HG01169.hp1 others(26): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0024 others(20): Show |
29 | 128 | 0.2266 | 9 | c.-36 others(20): Show |
CHD3 | ENSG00000170004.19 | transcript | ENST00000330494.12 | protein_coding | 3481 | chr17 | TogoVar | |||||||
CHD5_chr1_6096787_6185321 | 6140967 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02647.hp1 NA18947.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0009a0001c0011others(3): Show | a0001c0001t0006a0001c0009t0040a0001c0011t0010others(3): Show | a0001c0001t0006g0164 a0001c0009t0040g0015 a0001c0011t0010g0159 others(5): Show |
8 | 66 | 0.1212 | 9 | c.243 others(28): Show |
CHD5 | ENSG00000116254.18 | transcript | ENST00000262450.8 | protein_coding | 15/41 | chr1 | TogoVar | |||||||
CHD6_chr20_41397083_41623377 | 41432160 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG01255.hp2 others(25): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0321 others(25): Show |
28 | 224 | 0.1250 | 9 | c.406 others(28): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 27/36 | chr20 | TogoVar | |||||||
CHD7_chr8_60673740_60873028 | 60678764 | C | CGCGGCGG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG02451.hp2 HG02735.hp1 NA18952.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0022a0001c0001t0034 | a0001c0001t0013g0035 a0001c0001t0013g0130 a0001c0001t0013g0132 others(4): Show |
7 | 55 | 0.1273 | 9 | c.-47 others(18): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/38 | 62642 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHD8_chr14_21380199_21461123 | 21380296 | A | ATTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG02818.hp1 HG03139.hp1 HG03225.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0002others(2): Show | a0001c0001t0001g0138 a0001c0001t0002g0002 a0001c0005t0002g0036 others(5): Show |
8 | 79 | 0.1013 | 9 | c.*53 others(20): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 4902 | chr14 | TogoVar | |||||||
CHD9_chr16_53049991_53332497 | 53310857 | C | CAATAATA others(2): Show |
intron_variant | MODIFIER | HG02155.hp2 HG02451.hp1 HG02683.hp1 others(6): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(2): Show | a0001c0001t0002g0171 a0001c0001t0003g0134 a0001c0001t0003g0183 others(6): Show |
9 | 90 | 0.1000 | 9 | c.722 others(28): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 34/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHEK1_chr11_125620163_125662147 | 125631616 | A | AACACTTT others(2): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01109.hp2 HG02145.hp1 others(18): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0005a0001c0001t0012a0001c0001t0013others(2): Show | a0001c0001t0005g0009 a0001c0001t0005g0045 a0001c0001t0005g0046 others(12): Show |
21 | 382 | 0.0550 | 9 | c.425 others(26): Show |
CHEK1 | ENSG00000149554.15 | transcript | ENST00000438015.7 | protein_coding | 5/12 | chr11 | TogoVar | |||||||
CHEK2_chr22_28682743_28746820 | 28698228 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01243.hp1 HG01928.hp1 others(14): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0001 | a0001c0001t0001g0099 a0001c0001t0001g0124 a0001c0001t0001g0126 others(14): Show |
17 | 119 | 0.1429 | 9 | c.100 others(28): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 9/14 | chr22 | TogoVar | |||||||
CHGA_chr14_92918150_92940285 | 92920654 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01071.hp2 HG01256.hp2 HG01257.hp1 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0026 a0002c0002t0001g0004 others(3): Show |
22 | 63 | 0.3492 | 9 | c.-27 others(20): Show |
CHGA | ENSG00000100604.13 | transcript | ENST00000216492.10 | protein_coding | 2495 | chr14 | TogoVar | |||||||
CHKA_chr11_68047859_68126388 | 68098890 | T | TGCCATGT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(219): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 others(219): Show |
222 | 274 | 0.8102 | 9 | c.351 others(26): Show |
CHKA | ENSG00000110721.12 | transcript | ENST00000265689.9 | protein_coding | 1/11 | chr11 | TogoVar | |||||||
CHKA_chr11_68047859_68126388 | 68121326 | G | GCTGCGGC others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(106): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0018others(8): Show | a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 others(106): Show |
109 | 272 | 0.4007 | 9 | c.-15 others(18): Show |
CHKA | ENSG00000110721.12 | transcript | ENST00000265689.9 | protein_coding | 1/12 | 150 | chr11 | TogoVar | ||||||
CHKA_chr11_68047859_68126388 | 68121342 | C | CGACTGTG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG02559.hp2 HG02622.hp1 HG02809.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0268 a0001c0001t0006g0269 a0001c0001t0006g0270 others(6): Show |
9 | 274 | 0.0328 | 9 | c.-17 others(18): Show |
CHKA | ENSG00000110721.12 | transcript | ENST00000265689.9 | protein_coding | 1/12 | 166 | chr11 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 234993 | C | CTATTATT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(91): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0019a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0017 others(91): Show |
94 | 270 | 0.3481 | 9 | c.-17 others(28): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 393232 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01169.hp2 HG01175.hp2 others(25): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(15): Show | a0001c0001t0001g0170 a0001c0001t0001g0185 a0001c0001t0001g0199 others(25): Show |
28 | 61 | 0.4590 | 9 | c.291 others(28): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHMP2B_chr3_87222309_87260556 | 87257942 | C | CAATAATA others(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00735.hp1 others(26): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0019others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0026 others(21): Show |
29 | 186 | 0.1559 | 9 | c.*41 others(20): Show |
CHMP2B | ENSG00000083937.10 | transcript | ENST00000263780.9 | protein_coding | 2387 | chr3 | TogoVar | |||||||
CHMP7_chr8_23238637_23266999 | 23264115 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(125): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(14): Show | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0012 others(91): Show |
128 | 162 | 0.7901 | 9 | c.*35 others(20): Show |
CHMP7 | ENSG00000147457.14 | transcript | ENST00000397677.6 | protein_coding | 2117 | chr8 | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85856289 | T | TAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02897.hp2 others(3): Show |
a0001a0003a0004 | a0001c0001a0003c0005a0004c0008 | a0001c0001t0004a0001c0001t0009a0003c0005t0011others(1): Show | a0001c0001t0004g0096 a0001c0001t0004g0224 a0001c0001t0009g0194 others(3): Show |
6 | 118 | 0.0508 | 9 | c.*83 others(20): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 4890 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85913133 | C | CGGCCAAC others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00597.hp1 HG00735.hp2 others(55): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0044 a0001c0001t0002g0189 a0001c0001t0004g0224 others(55): Show |
58 | 243 | 0.2387 | 9 | c.116 others(28): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 8/14 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85913332 | A | AAAAAGAA others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01258.hp1 HG01928.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0004 | a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0098 others(6): Show |
9 | 53 | 0.1698 | 9 | c.116 others(28): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 8/14 | chrX | TogoVar |