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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CATSPERE_chr1_244456273_244645504 | 244557532 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | NA18943.hp1 NA18966.hp1 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0060 a0001c0001t0003g0154 a0001c0001t0004g0168 |
3 | 12 | 0.2500 | 16 | c.103 others(35): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244557550 | T | TATATATA others(9): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0042 | 1 | 204 | 0.0049 | 16 | c.103 others(35): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244578823 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03540.hp2 |
a0004a0006 | a0004c0009a0006c0011 | a0004c0009t0002a0006c0011t0001 | a0004c0009t0002g0079 a0006c0011t0001g0013 |
2 | 36 | 0.0556 | 16 | c.195 others(35): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244621214 | T | TAGATATA others(9): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0022 | 1 | 8 | 0.1250 | 16 | c.264 others(35): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244621315 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02273.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0156 a0001c0001t0003g0178 |
2 | 10 | 0.2000 | 16 | c.264 others(35): 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(9): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02258.hp2 HG02572.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0002t0002a0001c0002t0004others(3): Show | a0001c0001t0004g0171 a0001c0002t0002g0007 a0001c0002t0002g0011 others(8): Show |
11 | 62 | 0.1774 | 16 | c.264 others(35): 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(9): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01515.hp2 HG02896.hp2 |
a0001a0005a0007 | a0001c0001a0005c0008a0007c0010 | a0001c0001t0001a0005c0008t0003a0007c0010t0001 | a0001c0001t0001g0131 a0005c0008t0003g0192 a0007c0010t0001g0138 |
3 | 173 | 0.0173 | 16 | c.264 others(35): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244625430 | A | ATTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01516.hp2 HG02074.hp2 others(2): Show |
a0001a0003a0005 | a0001c0001a0003c0005a0005c0008 | a0001c0001t0001a0003c0005t0001a0005c0008t0003 | a0001c0001t0001g0058 a0001c0001t0001g0109 a0001c0001t0001g0127 others(2): Show |
5 | 144 | 0.0347 | 16 | c.264 others(35): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244625432 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0083 | 1 | 6 | 0.1667 | 16 | c.264 others(35): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244625432 | A | ATATATTT others(9): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01346.hp2 HG03704.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0043 a0001c0001t0001g0064 a0001c0001t0001g0103 others(1): Show |
4 | 9 | 0.4444 | 16 | c.264 others(35): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244625432 | A | ATATTTTT others(9): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02451.hp2 NA18945.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0063 a0001c0001t0001g0114 |
3 | 8 | 0.3750 | 16 | c.264 others(35): 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(9): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01934.hp2 HG02083.hp2 others(13): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0018others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0003others(4): Show | a0001c0001t0001g0021 a0001c0001t0001g0040 a0001c0001t0001g0056 others(13): Show |
16 | 21 | 0.7619 | 16 | c.264 others(35): 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(9): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG01123.hp1 others(37): Show |
a0003a0011 | a0003c0004a0011c0025 | a0003c0004t0001a0011c0025t0001 | a0003c0004t0001g0001 a0003c0004t0001g0014 a0003c0004t0001g0123 others(35): Show |
40 | 231 | 0.1732 | 16 | c.325 others(33): Show |
CATSPERG | ENSG00000099338.23 | transcript | ENST00000409235.8 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116523234 | G | GAAGGAAG others(9): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0231 | 1 | 75 | 0.0133 | 16 | c.-18 others(27): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 1801 | chr7 | TogoVar | |||||||
CAV1_chr7_116520036_116566179 | 116530208 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00642.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 others(27): Show |
33 | 98 | 0.3367 | 16 | c.195 others(33): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116534395 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0084 | 1 | 119 | 0.0084 | 16 | c.195 others(33): 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(9): Show |
intron_variant | MODIFIER | HG03540.hp2 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0249 a0001c0001t0004g0252 |
2 | 120 | 0.0167 | 16 | c.195 others(33): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116534395 | A | ATATTTTT others(9): Show |
intron_variant | MODIFIER | HG03491.hp2 NA19064.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0001 a0001c0001t0003g0132 |
2 | 120 | 0.0167 | 16 | c.195 others(33): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116546697 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0048 | 1 | 148 | 0.0068 | 16 | c.196 others(35): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116546702 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01168.hp2 HG01169.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0103 a0001c0001t0004g0078 a0001c0001t0004g0108 others(7): Show |
11 | 313 | 0.0351 | 16 | c.196 others(35): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116546702 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0106 a0001c0001t0004g0238 |
2 | 304 | 0.0066 | 16 | c.196 others(35): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116546702 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03209.hp2 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0082 a0001c0001t0004g0083 a0001c0001t0005g0225 |
3 | 305 | 0.0098 | 16 | c.196 others(35): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116546702 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG02559.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0019 a0001c0001t0004g0072 a0001c0001t0004g0089 others(4): Show |
8 | 310 | 0.0258 | 16 | c.196 others(35): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116546702 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01256.hp2 HG01258.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0088 a0001c0001t0004g0091 a0001c0001t0004g0092 others(4): Show |
8 | 310 | 0.0258 | 16 | c.196 others(35): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116546702 | A | AAAAAAAT others(9): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02818.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0107 a0001c0001t0004g0239 a0001c0001t0004g0243 |
3 | 305 | 0.0098 | 16 | c.196 others(35): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116546702 | A | AAAAAATA others(9): Show |
intron_variant | MODIFIER | HG02602.hp1 HG03017.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0242 |
3 | 305 | 0.0098 | 16 | c.196 others(35): 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(9): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG01256.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0019 a0001c0001t0004g0072 a0001c0001t0004g0090 others(10): Show |
16 | 314 | 0.0510 | 16 | c.196 others(33): 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(9): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 325 | 0.0031 | 16 | c.196 others(33): 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(9): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 282 | 0.0035 | 16 | c.196 others(33): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116555542 | G | GAGAGAGA others(9): Show |
intron_variant | MODIFIER | NA18982.hp2 NA21309.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0008 a0001c0002t0001g0200 |
2 | 172 | 0.0116 | 16 | c.196 others(33): 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(9): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0047 | 1 | 56 | 0.0179 | 16 | c.*24 others(27): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 533 | chr7 | TogoVar | |||||||
CAV1_chr7_116520036_116566179 | 116562940 | G | GAGGAAGG others(9): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 HG01192.hp1 HG02109.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0051 a0001c0001t0001g0096 others(4): Show |
7 | 48 | 0.1458 | 16 | c.*36 others(27): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 1762 | chr7 | TogoVar | |||||||
CAV2_chr7_116494738_116513541 | 116498923 | A | AACACACA others(9): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG02258.hp2 HG02602.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0004 | a0001c0001t0001g0001 a0002c0002t0004g0004 a0002c0002t0004g0007 |
8 | 75 | 0.1067 | 16 | c.-85 others(25): Show |
CAV2 | ENSG00000105971.15 | transcript | ENST00000222693.5 | protein_coding | 814 | chr7 | TogoVar | |||||||
CAV3_chr3_8728802_8751758 | 8746797 | T | TCACACAC others(9): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 HG01346.hp1 HG01433.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0008 | a0001c0001t0003a0001c0003t0003a0002c0008t0002 | a0001c0001t0003g0035 a0001c0003t0003g0027 a0001c0003t0003g0028 others(3): Show |
10 | 445 | 0.0225 | 16 | c.*93 others(25): Show |
CAV3 | ENSG00000182533.7 | transcript | ENST00000343849.3 | protein_coding | 40 | chr3 | TogoVar | |||||||
CAVIN1_chr17_42397449_42428256 | 42401668 | G | GGAAAGAA others(9): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02717.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0010 | a0001c0001t0003g0018 a0001c0001t0003g0048 a0001c0001t0003g0049 others(4): Show |
7 | 306 | 0.0229 | 16 | c.*30 others(27): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 780 | chr17 | TogoVar | |||||||
CAVIN1_chr17_42397449_42428256 | 42401707 | A | AAGAAAGA others(9): Show |
downstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0014 | 1 | 197 | 0.0051 | 16 | c.*29 others(27): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 741 | chr17 | TogoVar | |||||||
CAVIN1_chr17_42397449_42428256 | 42411207 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00642.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0011 a0001c0001t0002g0167 a0001c0001t0002g0245 others(4): Show |
9 | 243 | 0.0370 | 16 | c.472 others(33): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
CAVIN1_chr17_42397449_42428256 | 42413566 | G | GAAAAAAA others(9): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 69 | 0.0145 | 16 | c.472 others(33): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
CBFA2T2_chr20_33485096_33655030 | 33545439 | C | CTCTTTCT others(9): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00621.hp2 HG01106.hp1 others(18): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0012a0001c0001t0037others(3): Show | a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0236 others(18): Show |
21 | 196 | 0.1071 | 16 | c.34+ others(33): 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(9): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03130.hp2 HG03654.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0010others(2): Show | a0001c0001t0003g0110 a0001c0001t0007g0010 a0001c0001t0010g0098 others(2): Show |
5 | 184 | 0.0272 | 16 | c.35- others(33): 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(9): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01255.hp1 HG02559.hp2 others(4): Show |
a0001 | a0001c0001a0001c0006a0001c0010 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0220 a0001c0001t0001g0244 a0001c0001t0003g0143 others(4): Show |
7 | 84 | 0.0833 | 16 | c.35- others(33): 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(9): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0032 | 1 | 136 | 0.0074 | 16 | c.421 others(33): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88882461 | G | GTGTGCGT others(9): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0248 | 1 | 278 | 0.0036 | 16 | c.120 others(33): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 8/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88900270 | T | TGGGCCAC others(9): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0022 | a0001c0022t0008 | a0001c0022t0008g0201 | 1 | 282 | 0.0035 | 16 | c.304 others(33): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 2/11 | chr16 | TogoVar | |||||||
CBFB_chr16_67024149_67106058 | 67055357 | C | CTTTCTTT others(9): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 108 | 0.0093 | 16 | c.283 others(35): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CBFB_chr16_67024149_67106058 | 67066393 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0007 | 1 | 50 | 0.0200 | 16 | c.283 others(31): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CBLB_chr3_105650461_105874012 | 105650472 | T | TAGATAGA others(9): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0242 | 1 | 378 | 0.0026 | 16 | c.*84 others(27): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 4988 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105669065 | A | AATCCATC others(9): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02451.hp2 HG02572.hp2 |
a0001a0002 | a0001c0019a0002c0005 | a0001c0019t0027a0002c0005t0020 | a0001c0019t0027g0029 a0002c0005t0020g0215 a0002c0005t0020g0284 |
3 | 4 | 0.7500 | 16 | c.268 others(35): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 18/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105791433 | T | TTCATGAT others(9): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02258.hp1 HG02451.hp2 others(5): Show |
a0001a0002 | a0001c0019a0002c0005 | a0001c0019t0027a0002c0005t0014a0002c0005t0020 | a0001c0019t0027g0029 a0002c0005t0014g0003 a0002c0005t0014g0010 others(5): Show |
8 | 378 | 0.0212 | 16 | c.420 others(35): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 3/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105821260 | A | ATATCTAT others(9): Show |
intron_variant | MODIFIER | HG00280.hp2 HG02735.hp2 HG03669.hp1 others(2): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0022 | a0001c0001t0001a0001c0001t0015a0001c0002t0008others(2): Show | a0001c0001t0001g0067 a0001c0001t0015g0068 a0001c0002t0008g0294 others(2): Show |
5 | 81 | 0.0617 | 16 | c.419 others(35): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 3/18 | chr3 | TogoVar |