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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP97_chr4_185154665_185209000 | 185198789 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01109.hp2 HG02080.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0018 | a0002c0002t0001g0191 a0002c0002t0001g0216 a0002c0002t0001g0217 others(3): Show |
6 | 185 | 0.0324 | 15 | c.-17 others(32): Show |
CFAP97 | ENSG00000164323.15 | transcript | ENST00000458385.7 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
CFAP99_chr4_2413955_2468002 | 2426663 | A | ATGCCTTC others(8): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG02451.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0124 others(3): Show |
8 | 348 | 0.0230 | 15 | c.111 others(29): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP99_chr4_2413955_2468002 | 2440149 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02257.hp2 HG02280.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0012others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(3): Show | a0001c0001t0001g0070 a0001c0003t0001g0176 a0001c0003t0002g0043 others(7): Show |
10 | 213 | 0.0469 | 15 | c.351 others(32): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFB_chr6_31941095_31957084 | 31941814 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 196 | 0.0051 | 15 | c.-44 others(26): Show |
CFB | ENSG00000243649.10 | transcript | ENST00000425368.7 | protein_coding | 4280 | chr6 | TogoVar | |||||||
CFC1_chr2_130587165_130604575 | 130603723 | C | CAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG01257.hp2 HG02622.hp2 |
a0005 | a0005c0007 | a0005c0007t0005 | a0005c0007t0005g0017 | 2 | 235 | 0.0085 | 15 | c.-44 others(26): Show |
CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 4149 | chr2 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349674 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 304 | 0.0033 | 15 | c.651 others(34): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349678 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | NA18970.hp1 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 a0001c0001t0001g0243 |
2 | 289 | 0.0069 | 15 | c.651 others(34): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349680 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01256.hp1 HG02132.hp1 HG02647.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0149 a0001c0001t0001g0189 a0001c0001t0001g0208 others(5): Show |
8 | 260 | 0.0308 | 15 | c.651 others(34): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349684 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 121 | 0.0083 | 15 | c.651 others(34): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349686 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02145.hp1 HG03831.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0114 a0001c0001t0002g0161 a0001c0001t0002g0177 others(1): Show |
4 | 58 | 0.0690 | 15 | c.651 others(34): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75363942 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179 | 1 | 100 | 0.0100 | 15 | c.650 others(34): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFHR4_chr1_196883052_196923633 | 196885619 | G | GAGAGAGA others(8): Show |
upstream_gene_variant | MODIFIER | HG04228.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0068 | 1 | 346 | 0.0029 | 15 | c.-25 others(26): Show |
CFHR4 | ENSG00000134365.15 | transcript | ENST00000608469.6 | protein_coding | 2432 | chr1 | TogoVar | |||||||
CFHR4_chr1_196883052_196923633 | 196894889 | A | AAACAACA others(8): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 4 | 0.2500 | 15 | c.58+ others(30): Show |
CFHR4 | ENSG00000134365.15 | transcript | ENST00000608469.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFHR4_chr1_196883052_196923633 | 196915819 | G | GTTTTGTG others(8): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0080 | 1 | 348 | 0.0029 | 15 | c.154 others(32): Show |
CFHR4 | ENSG00000134365.15 | transcript | ENST00000608469.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196658407 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01168.hp1 HG01255.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 a0001c0001t0001g0198 a0001c0001t0001g0199 others(5): Show |
8 | 131 | 0.0611 | 15 | c.58+ others(30): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109753324 | T | TATATTTA others(8): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01081.hp2 NA18983.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 a0001c0001t0001g0170 a0001c0001t0001g0177 others(4): Show |
7 | 252 | 0.0278 | 15 | c.905 others(30): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | |||||||
CFI_chr4_109735695_109806999 | 109753405 | T | TTATTATA others(8): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03540.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0139 a0001c0002t0001g0140 |
2 | 352 | 0.0057 | 15 | c.905 others(30): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | |||||||
CFI_chr4_109735695_109806999 | 109756888 | G | GGAAAGAA others(8): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 48 | 0.0208 | 15 | c.904 others(30): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | |||||||
CFLAR_chr2_201111164_201181687 | 201134640 | T | TTAAAATA others(8): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01169.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0009a0001c0002t0012a0001c0002t0045others(3): Show | a0001c0002t0009g0024 a0001c0002t0009g0027 a0001c0002t0012g0032 others(4): Show |
7 | 163 | 0.0429 | 15 | c.388 others(32): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201134669 | A | AATAAAAT others(8): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0042 | a0001c0002t0042g0173 | 1 | 232 | 0.0043 | 15 | c.388 others(32): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201158849 | C | CATTATTA others(8): Show |
intron_variant | MODIFIER | HG00558.hp1 NA18906.hp1 |
a0001 | a0001c0002 | a0001c0002t0111a0001c0002t0113 | a0001c0002t0111g0070 a0001c0002t0113g0200 |
2 | 145 | 0.0138 | 15 | c.794 others(32): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CFTR_chr7_117475025_117673665 | 117499462 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01433.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0002 | a0001c0001t0002g0003 a0001c0004t0002g0128 |
2 | 197 | 0.0102 | 15 | c.54- others(30): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | TogoVar | |||||||
CGAS_chr6_73418711_73457297 | 73426349 | G | GAAATGAA others(8): Show |
intron_variant | MODIFIER | HG00673.hp2 HG00733.hp1 HG00735.hp2 others(92): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0001c0016others(5): Show | a0001c0002t0002a0001c0002t0006a0001c0002t0007others(24): Show | a0001c0002t0002g0002 a0001c0002t0002g0007 a0001c0002t0002g0015 others(75): Show |
95 | 334 | 0.2844 | 15 | c.121 others(32): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 4/4 | chr6 | TogoVar | |||||||
CGAS_chr6_73418711_73457297 | 73426349 | G | GATAAAAT others(8): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0002 | a0001c0002t0039 | a0001c0002t0039g0041 | 1 | 240 | 0.0042 | 15 | c.121 others(32): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 4/4 | chr6 | TogoVar | |||||||
CGAS_chr6_73418711_73457297 | 73453568 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG03041.hp2 NA20129.hp2 |
a0002a0003 | a0002c0001a0003c0004 | a0002c0001t0001a0003c0004t0056 | a0002c0001t0001g0012 a0003c0004t0056g0328 |
2 | 30 | 0.0667 | 15 | c.-13 others(26): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 1272 | chr6 | TogoVar | |||||||
CGB1_chr19_49030569_49041895 | 49035137 | A | ATATTATT others(8): Show |
downstream_gene_variant | MODIFIER | HG04228.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 1 | 105 | 0.0095 | 15 | c.*47 others(24): Show |
CGB1 | ENSG00000267631.5 | transcript | ENST00000301407.8 | protein_coding | 431 | chr19 | TogoVar | |||||||
CGB2_chr19_49026890_49038238 | 49035137 | A | ATATTATT others(8): Show |
downstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 106 | 0.0094 | 15 | c.*19 others(26): Show |
CGB2 | ENSG00000104818.15 | transcript | ENST00000359342.7 | protein_coding | 1900 | chr19 | TogoVar | |||||||
CGGBP1_chr3_88046950_88064005 | 88050344 | A | ATTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 92 | 0.0109 | 15 | c.*51 others(26): Show |
CGGBP1 | ENSG00000163320.12 | transcript | ENST00000482016.6 | protein_coding | 1605 | chr3 | TogoVar | |||||||
CGNL1_chr15_57371505_57555717 | 57383292 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03130.hp2 HG03540.hp2 others(1): Show |
a0001a0002a0012 | a0001c0001a0002c0002a0012c0018 | a0001c0001t0001a0002c0002t0003a0002c0002t0008others(1): Show | a0001c0001t0001g0272 a0002c0002t0003g0270 a0002c0002t0008g0273 others(1): Show |
4 | 232 | 0.0172 | 15 | c.-16 others(32): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57383595 | C | CCTTTTCT others(8): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0135 | 1 | 98 | 0.0102 | 15 | c.-16 others(32): 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(8): Show |
intron_variant | MODIFIER | HG03688.hp2 HG04199.hp1 HG04204.hp2 |
a0001a0024 | a0001c0001a0024c0028 | a0001c0001t0002a0024c0028t0006 | a0001c0001t0002g0067 a0001c0001t0002g0244 a0024c0028t0006g0066 |
3 | 24 | 0.1250 | 15 | c.-15 others(34): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57437619 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 28 | 0.0357 | 15 | c.-15 others(30): 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(8): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0002 | a0002c0002t0037 | a0002c0002t0037g0161 | 1 | 17 | 0.0588 | 15 | c.169 others(32): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57464670 | T | TTTTCCTT others(8): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00741.hp1 HG01074.hp2 others(21): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0087 a0001c0001t0001g0199 a0001c0001t0001g0248 others(21): Show |
24 | 56 | 0.4286 | 15 | c.240 others(34): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGREF1_chr2_27095594_27124128 | 27107250 | A | ATTTGTTT others(8): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01106.hp2 HG01167.hp2 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0122 others(10): Show |
15 | 348 | 0.0431 | 15 | c.-11 others(32): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
CGREF1_chr2_27095594_27124128 | 27116924 | T | TCTCTCTC others(8): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 313 | 0.0032 | 15 | c.-12 others(32): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
CHAF1A_chr19_4397640_4448397 | 4408461 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01243.hp2 HG02071.hp1 others(2): Show |
a0001a0005 | a0001c0001a0005c0018 | a0001c0001t0001a0005c0018t0002 | a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0145 others(2): Show |
5 | 48 | 0.1042 | 15 | c.104 others(30): 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(8): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02451.hp2 HG02630.hp2 others(4): Show |
a0001a0002a0003others(2): Show | a0001c0003a0002c0002a0003c0004others(3): Show | a0001c0003t0003a0002c0002t0002a0003c0004t0002others(3): Show | a0001c0003t0003g0287 a0002c0002t0002g0106 a0002c0002t0002g0112 others(4): Show |
7 | 17 | 0.4118 | 15 | c.960 others(32): 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(8): Show |
intron_variant | MODIFIER | HG04184.hp1 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 a0001c0001t0001g0260 |
2 | 8 | 0.2500 | 15 | c.137 others(34): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHAF1A_chr19_4397640_4448397 | 4437735 | T | TTTTTATT others(8): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01891.hp1 |
a0007 | a0007c0010 | a0007c0010t0006 | a0007c0010t0006g0367 a0007c0010t0006g0368 |
2 | 14 | 0.1429 | 15 | c.267 others(34): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHAT_chr10_49609037_49672942 | 49623117 | T | TTGTCTCC others(8): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0132 | 1 | 416 | 0.0024 | 15 | c.752 others(30): Show |
CHAT | ENSG00000070748.19 | transcript | ENST00000337653.7 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126862689 | C | CTCCACCA others(8): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0073 | 1 | 214 | 0.0047 | 15 | c.495 others(32): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126862807 | A | ACCATCAC others(8): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02886.hp2 HG03041.hp1 |
a0002a0006 | a0002c0002a0006c0008 | a0002c0002t0002a0006c0008t0002 | a0002c0002t0002g0096 a0002c0002t0002g0097 a0006c0008t0002g0098 |
3 | 136 | 0.0221 | 15 | c.495 others(34): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126865154 | C | CTCCTCCT others(8): Show |
intron_variant | MODIFIER | HG03471.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 a0001c0001t0001g0205 |
2 | 214 | 0.0093 | 15 | c.495 others(34): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | chr3 | TogoVar | |||||||
CHCHD6_chr3_126699240_126965420 | 126892953 | G | GTTGTTTT others(8): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02809.hp1 NA19030.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0002g0094 |
3 | 194 | 0.0155 | 15 | c.496 others(34): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126910273 | G | GAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02074.hp1 HG02135.hp1 HG03942.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0118 a0001c0001t0001g0129 others(4): Show |
7 | 72 | 0.0972 | 15 | c.496 others(32): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126910273 | G | GAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0015 | 1 | 66 | 0.0152 | 15 | c.496 others(32): 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(8): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG00738.hp1 HG01258.hp1 others(16): Show |
a0001 | a0001c0001a0001c0009a0001c0010 | a0001c0001t0003a0001c0009t0003a0001c0010t0003 | a0001c0001t0003g0011 a0001c0001t0003g0017 a0001c0001t0003g0035 others(13): Show |
19 | 44 | 0.4318 | 15 | c.*34 others(26): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 3239 | chr1 | TogoVar | |||||||
CHD1_chr5_98848985_98934007 | 98883862 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 317 | 0.0032 | 15 | c.256 others(32): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 18/35 | chr5 | TogoVar | |||||||
CHD1_chr5_98848985_98934007 | 98911144 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01358.hp2 HG04228.hp1 NA18975.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0232 a0001c0001t0001g0280 |
3 | 286 | 0.0105 | 15 | c.54- others(30): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 2/35 | chr5 | TogoVar |