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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C8orf88_chr8_90953471_90990238 | 90968657 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG02895.hp2 HG04204.hp2 NA18966.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0187 a0001c0001t0002g0091 a0001c0001t0003g0020 |
5 | 100 | 0.0500 | 14 | c.223 others(31): Show |
C8orf88 | ENSG00000253250.3 | transcript | ENST00000517562.3 | protein_coding | 4/5 | chr8 | TogoVar | |||||||
C9_chr5_39279140_39369495 | 39282105 | C | CTTTTCTT others(7): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 HG01891.hp2 HG02055.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0037 a0001c0001t0002g0202 others(2): Show |
5 | 380 | 0.0132 | 14 | c.*30 others(25): Show |
C9 | ENSG00000113600.12 | transcript | ENST00000263408.5 | protein_coding | 2034 | chr5 | TogoVar | |||||||
C9_chr5_39279140_39369495 | 39282110 | C | CTTTCTTT others(7): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0338 | 1 | 392 | 0.0026 | 14 | c.*30 others(25): Show |
C9 | ENSG00000113600.12 | transcript | ENST00000263408.5 | protein_coding | 2029 | chr5 | TogoVar | |||||||
C9_chr5_39279140_39369495 | 39282140 | T | TTCTTTCT others(7): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00609.hp1 others(69): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0010a0001c0013others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0025 others(68): Show |
72 | 364 | 0.1978 | 14 | c.*30 others(25): Show |
C9 | ENSG00000113600.12 | transcript | ENST00000263408.5 | protein_coding | 1999 | chr5 | TogoVar | |||||||
C9_chr5_39279140_39369495 | 39359098 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 378 | 0.0026 | 14 | c.77+ others(29): Show |
C9 | ENSG00000113600.12 | transcript | ENST00000263408.5 | protein_coding | 1/10 | chr5 | TogoVar | |||||||
C9_chr5_39279140_39369495 | 39359102 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | HG00733.hp1 NA18968.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0019 a0001c0001t0003g0263 |
2 | 79 | 0.0253 | 14 | c.77+ others(29): Show |
C9 | ENSG00000113600.12 | transcript | ENST00000263408.5 | protein_coding | 1/10 | chr5 | TogoVar | |||||||
C9_chr5_39279140_39369495 | 39359102 | G | GTGTATAT others(7): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0287 | 1 | 78 | 0.0128 | 14 | c.77+ others(29): Show |
C9 | ENSG00000113600.12 | transcript | ENST00000263408.5 | protein_coding | 1/10 | chr5 | TogoVar | |||||||
C9_chr5_39279140_39369495 | 39359102 | G | GTGTGTAT others(7): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0285 | 1 | 78 | 0.0128 | 14 | c.77+ others(29): Show |
C9 | ENSG00000113600.12 | transcript | ENST00000263408.5 | protein_coding | 1/10 | chr5 | TogoVar | |||||||
C9_chr5_39279140_39369495 | 39359102 | G | GTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0295 | 1 | 78 | 0.0128 | 14 | c.77+ others(29): Show |
C9 | ENSG00000113600.12 | transcript | ENST00000263408.5 | protein_coding | 1/10 | chr5 | TogoVar | |||||||
C9orf152_chr9_110194561_110213159 | 110198893 | C | CAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0015others(4): Show | a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0010 others(17): Show |
37 | 86 | 0.4302 | 14 | c.*20 others(25): Show |
C9orf152 | ENSG00000188959.10 | transcript | ENST00000400613.5 | protein_coding | 667 | chr9 | TogoVar | |||||||
C9orf152_chr9_110194561_110213159 | 110209938 | A | AAGAGAAG others(7): Show |
upstream_gene_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 464 | 0.0022 | 14 | c.-23 others(25): Show |
C9orf152 | ENSG00000188959.10 | transcript | ENST00000400613.5 | protein_coding | 1780 | chr9 | TogoVar | |||||||
C9orf153_chr9_86215265_86264657 | 86251914 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01255.hp2 HG01257.hp2 others(49): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0181 others(43): Show |
52 | 139 | 0.3741 | 14 | c.-27 others(31): Show |
C9orf153 | ENSG00000187753.13 | transcript | ENST00000339137.7 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
C9orf24_chr9_34374019_34402810 | 34392442 | C | CGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG02559.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 a0001c0001t0001g0244 |
2 | 128 | 0.0156 | 14 | c.135 others(31): Show |
C9orf24 | ENSG00000164972.14 | transcript | ENST00000297623.7 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
C9orf50_chr9_129607225_129626101 | 129607477 | G | GGTGTGTG others(7): Show |
downstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 23 | 0.0435 | 14 | c.*48 others(25): Show |
C9orf50 | ENSG00000179058.8 | transcript | ENST00000372478.5 | protein_coding | 4747 | chr9 | TogoVar | |||||||
C9orf50_chr9_129607225_129626101 | 129623342 | A | AAGAAAGA others(7): Show |
upstream_gene_variant | MODIFIER | HG02976.hp1 HG03041.hp1 NA19043.hp1 |
a0002a0005 | a0002c0002a0005c0007 | a0002c0002t0001a0005c0007t0004 | a0002c0002t0001g0074 a0002c0002t0001g0103 a0005c0007t0004g0048 |
3 | 46 | 0.0652 | 14 | c.-27 others(25): Show |
C9orf50 | ENSG00000179058.8 | transcript | ENST00000372478.5 | protein_coding | 2242 | chr9 | TogoVar | |||||||
C9orf72_chr9_27541546_27578481 | 27573469 | A | AGGCACCG others(7): Show |
5_prime_UTR_variant | MODIFIER | HG01891.hp1 HG02451.hp2 HG02723.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0029 a0001c0001t0007g0055 a0001c0001t0007g0056 |
4 | 436 | 0.0092 | 14 | c.-97 others(21): Show |
C9orf72 | ENSG00000147894.17 | transcript | ENST00000380003.8 | protein_coding | 1/11 | 6350 | chr9 | TogoVar | ||||||
C9orf78_chr9_129822290_129840275 | 129824634 | A | AATAATAA others(7): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 HG03130.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0007 | 2 | 376 | 0.0053 | 14 | c.*35 others(25): Show |
C9orf78 | ENSG00000136819.15 | transcript | ENST00000372447.7 | protein_coding | 2655 | chr9 | TogoVar | |||||||
CA10_chr17_51625320_52163714 | 51636775 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02809.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 a0001c0001t0003g0045 a0001c0001t0003g0081 |
3 | 17 | 0.1765 | 14 | c.635 others(29): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 6/8 | chr17 | TogoVar | |||||||
CA10_chr17_51625320_52163714 | 51707669 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02145.hp2 HG04228.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0092 a0001c0002t0001g0067 |
2 | 146 | 0.0137 | 14 | c.465 others(33): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 4/8 | chr17 | TogoVar | |||||||
CA10_chr17_51625320_52163714 | 51707671 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG01106.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0025 a0001c0001t0001g0104 a0001c0001t0001g0127 others(12): Show |
15 | 29 | 0.5172 | 14 | c.465 others(33): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 4/8 | chr17 | TogoVar | |||||||
CA10_chr17_51625320_52163714 | 51717626 | C | CACATATA others(7): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00544.hp1 others(37): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0007 a0001c0001t0001g0059 a0001c0001t0001g0091 others(37): Show |
40 | 154 | 0.2597 | 14 | c.465 others(33): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 4/8 | chr17 | TogoVar | |||||||
CA10_chr17_51625320_52163714 | 51765691 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0133 | 1 | 53 | 0.0189 | 14 | c.280 others(33): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 3/8 | chr17 | TogoVar | |||||||
CA10_chr17_51625320_52163714 | 51773447 | C | CATTCAGT others(7): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 154 | 0.0065 | 14 | c.280 others(33): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 3/8 | chr17 | TogoVar | |||||||
CA10_chr17_51625320_52163714 | 51849233 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01243.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 a0001c0001t0002g0022 |
2 | 93 | 0.0215 | 14 | c.279 others(33): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 3/8 | chr17 | TogoVar | |||||||
CA10_chr17_51625320_52163714 | 51878890 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0120 | 1 | 43 | 0.0233 | 14 | c.279 others(33): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 3/8 | chr17 | TogoVar | |||||||
CA10_chr17_51625320_52163714 | 51942538 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0073 | 1 | 41 | 0.0244 | 14 | c.137 others(33): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 2/8 | chr17 | TogoVar | |||||||
CA10_chr17_51625320_52163714 | 52072678 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02647.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0001g0046 a0001c0001t0003g0034 a0001c0001t0003g0045 others(3): Show |
6 | 29 | 0.2069 | 14 | c.62- others(27): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 1/8 | chr17 | TogoVar | |||||||
CA10_chr17_51625320_52163714 | 52123371 | G | GGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG01516.hp2 HG02572.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0001 | a0001c0001t0004g0072 a0001c0002t0001g0105 |
2 | 6 | 0.3333 | 14 | c.61+ others(31): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 1/8 | chr17 | TogoVar | |||||||
CA10_chr17_51625320_52163714 | 52160818 | C | CTTTCTTT others(7): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 a0001c0001t0002g0052 |
2 | 154 | 0.0130 | 14 | c.-30 others(25): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 2105 | chr17 | TogoVar | |||||||
CA12_chr15_63316378_63386846 | 63364332 | G | GAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02293.hp2 HG02970.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0143 a0001c0001t0002g0297 a0001c0001t0003g0250 others(4): Show |
7 | 39 | 0.1795 | 14 | c.106 others(33): Show |
CA12 | ENSG00000074410.14 | transcript | ENST00000178638.8 | protein_coding | 2/10 | chr15 | TogoVar | |||||||
CA12_chr15_63316378_63386846 | 63376600 | T | TTCTTTCT others(7): Show |
intron_variant | MODIFIER | NA18950.hp1 NA19072.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0316 a0001c0001t0005g0317 |
2 | 222 | 0.0090 | 14 | c.86- others(27): Show |
CA12 | ENSG00000074410.14 | transcript | ENST00000178638.8 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
CA12_chr15_63316378_63386846 | 63376600 | T | TTCTTTCT others(7): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00639.hp1 HG00741.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0251 a0001c0001t0002g0143 a0001c0001t0002g0245 others(18): Show |
21 | 241 | 0.0871 | 14 | c.86- others(27): Show |
CA12 | ENSG00000074410.14 | transcript | ENST00000178638.8 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
CA2_chr8_85459007_85486493 | 85485728 | C | CATATATA others(7): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG02970.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0007 a0001c0002t0003g0065 |
2 | 40 | 0.0500 | 14 | c.*49 others(25): Show |
CA2 | ENSG00000104267.10 | transcript | ENST00000285379.10 | protein_coding | 4236 | chr8 | TogoVar | |||||||
CA4_chr17_60144973_60164546 | 60155498 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01346.hp1 HG01884.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0038 others(9): Show |
24 | 335 | 0.0716 | 14 | c.112 others(29): Show |
CA4 | ENSG00000167434.10 | transcript | ENST00000300900.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CA5A_chr16_87883013_87941529 | 87899919 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0376 | 1 | 120 | 0.0083 | 14 | c.618 others(31): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CA5B_chrX_15733270_15793411 | 15736436 | C | CAAAAAAA others(7): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0101 | 1 | 3 | 0.3333 | 14 | c.-19 others(25): Show |
CA5B | ENSG00000169239.14 | transcript | ENST00000318636.8 | protein_coding | 1833 | chrX | TogoVar | |||||||
CA6_chr1_8940868_8980092 | 8960789 | C | CACACACA others(7): Show |
intron_variant | MODIFIER | NA18982.hp1 NA20300.hp2 |
a0003a0005 | a0003c0006a0005c0009 | a0003c0006t0005a0005c0009t0001 | a0003c0006t0005g0163 a0005c0009t0001g0296 |
2 | 33 | 0.0606 | 14 | c.501 others(31): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CA6_chr1_8940868_8980092 | 8960789 | C | CACACATA others(7): Show |
intron_variant | MODIFIER | HG01975.hp1 NA18612.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0274 a0001c0001t0002g0370 |
2 | 33 | 0.0606 | 14 | c.501 others(31): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CA6_chr1_8940868_8980092 | 8973710 | C | CTCTCTTT others(7): Show |
intron_variant | MODIFIER | NA18994.hp1 NA19055.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0004 | a0001c0001t0001g0222 a0003c0004t0004g0145 |
2 | 381 | 0.0052 | 14 | c.845 others(29): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CA8_chr8_60180412_60286400 | 60190957 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0033 | a0001c0002t0033g0026 | 1 | 203 | 0.0049 | 14 | c.*36 others(29): Show |
CA8 | ENSG00000178538.10 | transcript | ENST00000317995.5 | protein_coding | 8/8 | chr8 | TogoVar | |||||||
CA8_chr8_60180412_60286400 | 60219929 | T | TAAAAAAA others(7): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0002 | a0001c0002t0038 | a0001c0002t0038g0109 | 1 | 144 | 0.0069 | 14 | c.738 others(31): Show |
CA8 | ENSG00000178538.10 | transcript | ENST00000317995.5 | protein_coding | 7/8 | chr8 | TogoVar | |||||||
CA9_chr9_35668928_35686159 | 35673088 | C | CTGGACCT others(7): Show |
upstream_gene_variant | MODIFIER | NA19072.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0130 | 1 | 444 | 0.0023 | 14 | c.-87 others(23): Show |
CA9 | ENSG00000107159.14 | transcript | ENST00000378357.9 | protein_coding | 839 | chr9 | TogoVar | |||||||
CAAP1_chr9_26835685_26897802 | 26847198 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 17 | 0.0588 | 14 | c.740 others(31): Show |
CAAP1 | ENSG00000120159.13 | transcript | ENST00000333916.8 | protein_coding | 5/5 | chr9 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49351262 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | NA18940.hp2 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 a0001c0001t0001g0190 |
2 | 72 | 0.0278 | 14 | c.396 others(29): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 6/10 | chr13 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49417595 | C | CAAATAAC others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(176): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0001 a0001c0001t0001g0049 a0001c0001t0001g0051 others(175): Show |
179 | 322 | 0.5559 | 14 | c.-32 others(33): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 3/10 | chr13 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49441221 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0050 |
3 | 190 | 0.0158 | 14 | c.-24 others(33): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 1/10 | chr13 | TogoVar | |||||||
CAB39_chr2_230707842_230826075 | 230727363 | C | CGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02622.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0017a0001c0001t0029 | a0001c0001t0010g0013 a0001c0001t0017g0007 a0001c0001t0029g0002 |
3 | 97 | 0.0309 | 14 | c.-44 others(33): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAB39_chr2_230707842_230826075 | 230727398 | G | GTGTGTGT others(7): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0231 | 1 | 334 | 0.0030 | 14 | c.-44 others(33): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAB39_chr2_230707842_230826075 | 230748829 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | NA18970.hp1 NA18990.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0013a0001c0001t0014 | a0001c0001t0005g0149 a0001c0001t0013g0127 a0001c0001t0014g0146 |
3 | 252 | 0.0119 | 14 | c.-43 others(33): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAB39_chr2_230707842_230826075 | 230748831 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0250 a0001c0001t0004g0251 |
2 | 150 | 0.0133 | 14 | c.-43 others(33): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |