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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CATSPERE_chr1_244456273_244645504 | 244578823 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02258.hp1 HG03098.hp1 others(6): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0033a0001c0001t0001g0121a0001c0001t0001g0129others(6): Show | 9 | 206 | 0.0437 | 12 | c.195 others(31): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244584026 | A | AATACCTC others(5): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0147 | 1 | 206 | 0.0049 | 12 | c.208 others(27): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244621315 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 206 | 0.0049 | 12 | c.264 others(31): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244623058 | T | TTTTATTT others(5): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01346.hp1 HG01978.hp1 others(6): Show |
a0001a0002a0009 | a0001c0001a0001c0006a0002c0004others(1): Show | a0001c0001t0001a0001c0006t0003a0002c0004t0001others(1): Show | a0001c0001t0001g0043a0001c0001t0001g0055a0001c0001t0001g0058others(6): Show | 9 | 206 | 0.0437 | 12 | c.264 others(31): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244625426 | A | ATTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 206 | 0.0049 | 12 | c.264 others(31): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244625428 | A | ATTTTTTT others(5): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03130.hp2 NA19056.hp2 others(1): Show |
a0001 | a0001c0001a0001c0020 | a0001c0001t0002a0001c0001t0004a0001c0020t0004 | a0001c0001t0002g0126a0001c0001t0002g0139a0001c0001t0004g0167others(1): Show | 4 | 206 | 0.0194 | 12 | c.264 others(31): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244625432 | A | ATTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02818.hp1 HG03710.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0001c0001t0003a0002c0004t0004 | a0001c0001t0002g0048a0001c0001t0003g0072a0002c0004t0004g0170 | 3 | 206 | 0.0146 | 12 | c.264 others(31): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERG_chr19_38330830_38375943 | 38342216 | A | AAAATAAA others(5): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02622.hp1 HG02896.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0096a0003c0004t0001g0097a0003c0004t0001g0098others(1): Show | 4 | 376 | 0.0106 | 12 | c.325 others(29): Show |
CATSPERG | ENSG00000099338.23 | transcript | ENST00000409235.8 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116530208 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02109.hp1 HG02258.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(4): Show | a0001c0001t0004g0066a0001c0001t0004g0308a0001c0001t0006g0013others(11): Show | 14 | 342 | 0.0409 | 12 | c.195 others(29): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116534395 | A | ATATATTT others(5): Show |
intron_variant | MODIFIER | HG04228.hp2 NA18948.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0325a0001c0001t0003g0296 | 2 | 342 | 0.0059 | 12 | c.195 others(29): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116555448 | A | AAAGGAAG others(5): Show |
intron_variant | MODIFIER | HG01433.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0070a0001c0001t0005g0302 | 2 | 342 | 0.0059 | 12 | c.196 others(29): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116555484 | A | AAAAGAAA others(5): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 342 | 0.0029 | 12 | c.196 others(29): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116555518 | A | AAGAAAGA others(5): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 342 | 0.0029 | 12 | c.196 others(29): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116561711 | T | TGATAGAT others(5): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG01928.hp2 HG01943.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0330a0001c0001t0003g0113a0001c0001t0003g0172others(3): Show | 6 | 342 | 0.0175 | 12 | c.*24 others(23): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 533 | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116562832 | A | AAAGAAAG others(5): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0061 | 1 | 342 | 0.0029 | 12 | c.*35 others(23): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 1654 | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116562940 | G | GAGGAAGG others(5): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00642.hp1 HG01070.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0017a0001c0001t0001g0021others(28): Show | 32 | 342 | 0.0936 | 12 | c.*36 others(23): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 1762 | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116562974 | G | GGAAGGAA others(5): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0066a0001c0001t0008g0068 | 2 | 342 | 0.0059 | 12 | c.*36 others(23): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 1796 | chr7 | TogoVar | ||||||
CAV2_chr7_116494738_116513541 | 116498910 | C | CCACACAC others(5): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 374 | 0.0027 | 12 | c.-87 others(21): Show |
CAV2 | ENSG00000105971.15 | transcript | ENST00000222693.5 | protein_coding | 827 | chr7 | TogoVar | ||||||
CAV2_chr7_116494738_116513541 | 116498923 | A | AACACACA others(5): Show |
upstream_gene_variant | MODIFIER | NA18971.hp1 NA19084.hp1 NA20752.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0004 | a0001c0001t0001g0001a0001c0001t0001g0046a0002c0002t0004g0004 | 3 | 374 | 0.0080 | 12 | c.-85 others(21): Show |
CAV2 | ENSG00000105971.15 | transcript | ENST00000222693.5 | protein_coding | 814 | chr7 | TogoVar | ||||||
CAV2_chr7_116494738_116513541 | 116503903 | G | GAGGAAGG others(5): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03130.hp1 HG03195.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0016a0001c0001t0005g0017 | 6 | 374 | 0.0160 | 12 | c.339 others(29): Show |
CAV2 | ENSG00000105971.15 | transcript | ENST00000222693.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV2_chr7_116494738_116513541 | 116503903 | G | GAGGGAGG others(5): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0030 | 1 | 374 | 0.0027 | 12 | c.339 others(29): Show |
CAV2 | ENSG00000105971.15 | transcript | ENST00000222693.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV2_chr7_116494738_116513541 | 116503919 | A | AAGGGAGG others(5): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03195.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0017 | 3 | 374 | 0.0080 | 12 | c.339 others(29): Show |
CAV2 | ENSG00000105971.15 | transcript | ENST00000222693.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV3_chr3_8728802_8751758 | 8746795 | T | TCACACAC others(5): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0010 | a0001c0010t0012 | a0001c0010t0012g0069 | 1 | 476 | 0.0021 | 12 | c.*92 others(21): Show |
CAV3 | ENSG00000182533.7 | transcript | ENST00000343849.3 | protein_coding | 38 | chr3 | TogoVar | ||||||
CAV3_chr3_8728802_8751758 | 8746797 | T | TCACACAC others(5): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01175.hp2 others(13): Show |
a0001a0002 | a0001c0003a0001c0005a0002c0004others(1): Show | a0001c0003t0003a0001c0005t0015a0002c0004t0002others(1): Show | a0001c0003t0003g0162a0001c0005t0015g0097a0002c0004t0002g0014others(8): Show | 16 | 476 | 0.0336 | 12 | c.*93 others(21): Show |
CAV3 | ENSG00000182533.7 | transcript | ENST00000343849.3 | protein_coding | 40 | chr3 | TogoVar | ||||||
CAVIN1_chr17_42397449_42428256 | 42401668 | G | GGAAAGAA others(5): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG02572.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003a0001c0002t0010 | a0001c0001t0003g0045a0001c0001t0003g0046a0001c0001t0003g0051others(2): Show | 5 | 338 | 0.0148 | 12 | c.*30 others(23): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 780 | chr17 | TogoVar | ||||||
CAVIN1_chr17_42397449_42428256 | 42405682 | G | GTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02258.hp2 HG02922.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0001t0027a0001c0003t0006 | a0001c0001t0006g0057a0001c0001t0006g0064a0001c0001t0006g0065others(3): Show | 6 | 338 | 0.0178 | 12 | c.472 others(27): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
CAVIN1_chr17_42397449_42428256 | 42411192 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(93): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(74): Show | 96 | 338 | 0.2840 | 12 | c.472 others(29): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
CAVIN1_chr17_42397449_42428256 | 42413566 | G | GAAAAAAA others(5): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 338 | 0.0030 | 12 | c.472 others(29): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
CAVIN1_chr17_42397449_42428256 | 42419882 | C | CGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01516.hp1 HG04199.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0005t0028 | a0001c0001t0003g0058a0001c0001t0003g0059a0001c0005t0028g0028 | 3 | 338 | 0.0089 | 12 | c.471 others(29): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33494243 | G | GTGTATAT others(5): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0061 | 1 | 298 | 0.0034 | 12 | c.34+ others(27): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33494243 | G | GTGTGTAT others(5): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0051 | 1 | 298 | 0.0034 | 12 | c.34+ others(27): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33494273 | A | ATATATAT others(5): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0002 | 1 | 298 | 0.0034 | 12 | c.34+ others(27): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33494273 | A | ATATATTT others(5): Show |
intron_variant | MODIFIER | HG02630.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0036 | a0001c0001t0004g0028a0001c0001t0036g0018 | 2 | 298 | 0.0067 | 12 | c.34+ others(27): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33494273 | A | ATATTTTT others(5): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0023 | 1 | 298 | 0.0034 | 12 | c.34+ others(27): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33529743 | T | TTTTATAT others(5): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0004a0001c0001t0008g0007 | 2 | 298 | 0.0067 | 12 | c.34+ others(29): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33545439 | C | CTCTTTCT others(5): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02015.hp1 HG03225.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0247a0001c0001t0001g0268a0001c0001t0012g0162others(2): Show | 5 | 298 | 0.0168 | 12 | c.34+ others(29): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33547687 | A | ATGTGTGT others(5): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0293 | 1 | 298 | 0.0034 | 12 | c.34+ others(29): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33550608 | G | GTTATTTA others(5): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00597.hp2 others(46): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(7): Show | a0001c0001t0003g0071a0001c0001t0003g0072a0001c0001t0003g0073others(46): Show | 49 | 298 | 0.1644 | 12 | c.35- others(29): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33559172 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02155.hp2 HG02738.hp2 HG03195.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0029a0001c0001t0004g0030a0001c0001t0004g0050others(2): Show | 5 | 298 | 0.0168 | 12 | c.35- others(29): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33591179 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0017 | 1 | 298 | 0.0034 | 12 | c.35- others(29): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33592374 | T | TTATATAT others(5): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 298 | 0.0034 | 12 | c.35- others(29): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33616078 | G | GAGATAGA others(5): Show |
intron_variant | MODIFIER | HG02080.hp1 NA18747.hp1 NA18988.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0034a0001c0002t0002g0044a0001c0002t0002g0059others(1): Show | 4 | 298 | 0.0134 | 12 | c.421 others(29): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33621287 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0293 | 1 | 298 | 0.0034 | 12 | c.510 others(29): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33643753 | C | CTATATAT others(5): Show |
intron_variant | MODIFIER | HG00438.hp2 NA18969.hp1 |
a0001a0004 | a0001c0002a0004c0007 | a0001c0002t0002a0004c0007t0002 | a0001c0002t0002g0169a0004c0007t0002g0055 | 2 | 298 | 0.0067 | 12 | c.148 others(29): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T3_chr16_88869858_88982207 | 88894206 | A | ACACACAT others(5): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 284 | 0.0035 | 12 | c.380 others(29): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 3/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88894382 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0009 | a0009c0019 | a0009c0019t0001 | a0009c0019t0001g0207 | 1 | 284 | 0.0035 | 12 | c.380 others(29): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 3/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88894442 | A | ACACACAT others(5): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0020 | a0001c0020t0029 | a0001c0020t0029g0111 | 1 | 284 | 0.0035 | 12 | c.380 others(29): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 3/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88894454 | G | GCACACAT others(5): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG01069.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0012a0001c0001t0001g0098a0001c0001t0001g0118others(9): Show | 12 | 284 | 0.0423 | 12 | c.380 others(29): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 3/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88894606 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02970.hp2 |
a0001 | a0001c0008 | a0001c0008t0014a0001c0008t0032 | a0001c0008t0014g0167a0001c0008t0032g0146 | 2 | 284 | 0.0070 | 12 | c.380 others(29): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 3/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88894615 | G | GCACACAC others(5): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 284 | 0.0035 | 12 | c.380 others(29): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 3/11 | chr16 | TogoVar |