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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CASZ1_chr1_10631604_10801646 | 10744344 | C | CGGCACCA others(17): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02004.hp2 HG03688.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0001g0190 a0001c0001t0003g0002 a0001c0002t0001g0103 others(4): Show |
7 | 113 | 0.0619 | 24 | c.-77 others(43): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 2/20 | chr1 | TogoVar | |||||||
CASZ1_chr1_10631604_10801646 | 10744362 | T | TGTCCTGG others(17): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02809.hp1 HG02970.hp2 |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0024a0001c0004t0002 | a0001c0001t0001g0142 a0001c0002t0024g0156 a0001c0004t0002g0225 |
3 | 221 | 0.0136 | 24 | c.-77 others(43): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 2/20 | chr1 | TogoVar | |||||||
CASZ1_chr1_10631604_10801646 | 10744386 | T | TGTCCTGG others(17): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0004 | a0001c0004t0022 | a0001c0004t0022g0119 | 1 | 224 | 0.0045 | 24 | c.-77 others(43): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 2/20 | chr1 | TogoVar | |||||||
CASZ1_chr1_10631604_10801646 | 10744506 | T | TGTCCTGG others(17): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0024 | a0002c0024t0040 | a0002c0024t0040g0166 | 1 | 226 | 0.0044 | 24 | c.-77 others(43): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 2/20 | chr1 | TogoVar | |||||||
CATIP_chr2_218351857_218373094 | 218357259 | G | GTCTCTCT others(17): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02602.hp2 HG03516.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0046 a0001c0001t0001g0066 others(5): Show |
9 | 29 | 0.3103 | 24 | c.118 others(38): Show |
CATIP | ENSG00000158428.4 | transcript | ENST00000289388.4 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CATSPER2_chr15_43623503_43653844 | 43638286 | C | CTTTCTTT others(17): Show |
intron_variant | MODIFIER | HG00423.hp1 NA18941.hp1 NA19054.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0040 a0002c0002t0002g0146 |
3 | 208 | 0.0144 | 24 | c.842 others(39): Show |
CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 7/12 | chr15 | TogoVar | |||||||
CATSPER4_chr1_26185602_26207964 | 26206481 | A | AAAAGAAA others(17): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 HG02109.hp2 HG02970.hp2 others(4): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0017 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(1): Show | a0001c0001t0001g0100 a0001c0001t0002g0002 a0002c0002t0002g0003 others(2): Show |
7 | 199 | 0.0352 | 24 | c.*39 others(35): Show |
CATSPER4 | ENSG00000188782.9 | transcript | ENST00000456354.7 | protein_coding | 3518 | chr1 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91612012 | T | TTTTCTTT others(17): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 166 | 0.0060 | 24 | c.240 others(43): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 20/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91661524 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0116 | 1 | 41 | 0.0244 | 24 | c.128 others(43): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 14/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91736501 | A | AAAGGAAG others(17): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG01978.hp1 others(29): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0007 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0036 others(29): Show |
32 | 169 | 0.1893 | 24 | c.-45 others(35): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 4416 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91736526 | A | AAGGAAGG others(17): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01515.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0030 others(13): Show |
16 | 223 | 0.0717 | 24 | c.-45 others(35): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 4441 | chr14 | TogoVar | |||||||
CATSPERD_chr19_5715637_5783734 | 5716259 | C | CATATATA others(17): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 HG04184.hp2 |
a0001a0009 | a0001c0001a0009c0009 | a0001c0001t0001a0009c0009t0001 | a0001c0001t0001g0230 a0009c0009t0001g0016 |
2 | 48 | 0.0417 | 24 | c.-44 others(35): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4377 | chr19 | TogoVar | |||||||
CATSPERD_chr19_5715637_5783734 | 5733305 | C | CTCTTTCT others(17): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 329 | 0.0030 | 24 | c.277 others(39): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5733307 | T | TTTTCTTT others(17): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03041.hp2 |
a0010 | a0010c0008 | a0010c0008t0001 | a0010c0008t0001g0008 a0010c0008t0001g0014 |
2 | 317 | 0.0063 | 24 | c.277 others(39): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5741799 | T | TGGGGGGG others(17): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0028 | 1 | 136 | 0.0074 | 24 | c.573 others(41): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5762058 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 a0001c0001t0001g0166 |
2 | 47 | 0.0426 | 24 | c.142 others(43): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5762058 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01257.hp1 HG01258.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(1): Show | a0001c0001t0001g0045 a0001c0001t0001g0076 a0002c0002t0001g0050 others(5): Show |
8 | 53 | 0.1509 | 24 | c.142 others(43): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5762058 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01109.hp1 HG01346.hp1 others(5): Show |
a0002a0003a0004others(2): Show | a0002c0002a0002c0019a0003c0004others(3): Show | a0002c0002t0001a0002c0019t0001a0003c0004t0001others(3): Show | a0002c0002t0001g0049 a0002c0002t0001g0068 a0002c0002t0001g0112 others(5): Show |
8 | 53 | 0.1509 | 24 | c.142 others(43): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5762058 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG01074.hp1 others(9): Show |
a0002a0031 | a0002c0002a0002c0019a0031c0021 | a0002c0002t0001a0002c0019t0001a0031c0021t0001 | a0002c0002t0001g0069 a0002c0002t0001g0073 a0002c0002t0001g0074 others(9): Show |
12 | 57 | 0.2105 | 24 | c.142 others(43): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5762058 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01975.hp2 HG01978.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0041 a0002c0002t0001g0072 a0002c0002t0001g0104 others(1): Show |
4 | 49 | 0.0816 | 24 | c.142 others(43): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5762058 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0010 | a0010c0008 | a0010c0008t0001 | a0010c0008t0001g0011 | 1 | 46 | 0.0217 | 24 | c.142 others(43): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5762058 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0277 | 1 | 46 | 0.0217 | 24 | c.142 others(43): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5763847 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0275 | 1 | 84 | 0.0119 | 24 | c.150 others(41): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244623058 | T | TTTTATTT others(17): Show |
intron_variant | MODIFIER | HG01928.hp2 HG01978.hp2 NA18984.hp1 others(1): Show |
a0001a0010 | a0001c0002a0010c0012 | a0001c0002t0004a0010c0012t0002 | a0001c0002t0004g0184 a0001c0002t0004g0187 a0001c0002t0004g0203 others(1): Show |
4 | 55 | 0.0727 | 24 | c.264 others(43): 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(17): Show |
intron_variant | MODIFIER | HG02300.hp2 NA19070.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0001 a0003c0004t0001g0161 |
2 | 193 | 0.0104 | 24 | c.325 others(41): 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(17): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0173 a0001c0001t0005g0244 |
2 | 76 | 0.0263 | 24 | c.-18 others(35): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 1801 | chr7 | TogoVar | |||||||
CAV1_chr7_116520036_116566179 | 116534395 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0247 | 1 | 119 | 0.0084 | 24 | c.195 others(41): 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(17): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038 | 1 | 119 | 0.0084 | 24 | c.195 others(41): 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(17): Show |
intron_variant | MODIFIER | HG02647.hp1 NA18993.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012 a0001c0001t0002g0001 |
2 | 120 | 0.0167 | 24 | c.195 others(41): 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(17): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 282 | 0.0035 | 24 | c.196 others(41): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116561945 | G | GAGATAGA others(17): Show |
downstream_gene_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 340 | 0.0029 | 24 | c.*26 others(35): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 767 | chr7 | TogoVar | |||||||
CAV2_chr7_116494738_116513541 | 116498910 | C | CCACACAC others(17): Show |
upstream_gene_variant | MODIFIER | HG03927.hp1 NA18942.hp1 NA19054.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0003t0001g0001 |
3 | 287 | 0.0105 | 24 | c.-87 others(33): Show |
CAV2 | ENSG00000105971.15 | transcript | ENST00000222693.5 | protein_coding | 827 | chr7 | TogoVar | |||||||
CAV2_chr7_116494738_116513541 | 116498923 | A | AACACACA others(17): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 HG01175.hp2 HG01943.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0027 others(7): Show |
25 | 92 | 0.2717 | 24 | c.-85 others(33): Show |
CAV2 | ENSG00000105971.15 | transcript | ENST00000222693.5 | protein_coding | 814 | chr7 | TogoVar | |||||||
CAV3_chr3_8728802_8751758 | 8746799 | T | TCACACAC others(17): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0021 | 1 | 55 | 0.0182 | 24 | c.*93 others(33): Show |
CAV3 | ENSG00000182533.7 | transcript | ENST00000343849.3 | protein_coding | 42 | chr3 | TogoVar | |||||||
CAVIN1_chr17_42397449_42428256 | 42401668 | G | GGAAAGAA others(17): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0068 a0001c0001t0003g0069 |
2 | 301 | 0.0066 | 24 | c.*30 others(35): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 780 | chr17 | TogoVar | |||||||
CAVIN1_chr17_42397449_42428256 | 42411192 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0065 a0001c0001t0006g0099 |
2 | 130 | 0.0154 | 24 | c.472 others(41): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
CAVIN2_chr2_191829310_191852088 | 191850653 | A | AAAAAATT others(17): Show |
upstream_gene_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 380 | 0.0026 | 24 | c.-37 others(35): Show |
CAVIN2 | ENSG00000168497.5 | transcript | ENST00000304141.5 | protein_coding | 3566 | chr2 | TogoVar | |||||||
CBFA2T2_chr20_33485096_33655030 | 33545439 | C | CTCTTTCT others(17): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01243.hp1 HG01516.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(4): Show | a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0230 others(18): Show |
21 | 196 | 0.1071 | 24 | c.34+ others(41): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33545470 | T | TTTCTTTC others(17): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0062 | 1 | 285 | 0.0035 | 24 | c.34+ others(41): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33621287 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01261.hp1 HG02015.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0041a0001c0003t0001 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0264 others(6): Show |
9 | 76 | 0.1184 | 24 | c.510 others(41): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88894454 | G | GCACACAT others(17): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02970.hp2 |
a0001 | a0001c0008 | a0001c0008t0014a0001c0008t0032 | a0001c0008t0014g0166 a0001c0008t0032g0142 |
2 | 188 | 0.0106 | 24 | c.380 others(41): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 3/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88963253 | A | ATCTTCTG others(17): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00642.hp2 others(58): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(18): Show | a0001c0001t0001g0054 a0001c0001t0001g0066 a0001c0001t0001g0069 others(58): Show |
61 | 279 | 0.2186 | 24 | c.151 others(43): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFB_chr16_67024149_67106058 | 67080228 | C | CGATGGCT others(17): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 210 | 0.0048 | 24 | c.400 others(41): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CBFB_chr16_67024149_67106058 | 67092698 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 11 | 0.0909 | 24 | c.496 others(41): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CBLIF_chr11_59824273_59850499 | 59834307 | T | TCTTCCTT others(17): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0186 | 1 | 180 | 0.0056 | 24 | c.107 others(43): Show |
CBLIF | ENSG00000134812.8 | transcript | ENST00000257248.3 | protein_coding | 7/8 | chr11 | TogoVar | |||||||
CBLIF_chr11_59824273_59850499 | 59834311 | T | TCTTTCTT others(17): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0201 | 1 | 10 | 0.1000 | 24 | c.107 others(43): Show |
CBLIF | ENSG00000134812.8 | transcript | ENST00000257248.3 | protein_coding | 7/8 | chr11 | TogoVar | |||||||
CBL_chr11_119201339_119313149 | 119244581 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02572.hp2 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0050 | a0001c0001t0010g0358 a0001c0001t0050g0234 |
2 | 201 | 0.0100 | 24 | c.443 others(43): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119277239 | G | GCACACAC others(17): Show |
intron_variant | MODIFIER | HG02818.hp1 HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0026 a0001c0001t0005g0022 a0001c0001t0005g0023 |
3 | 126 | 0.0238 | 24 | c.100 others(41): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBR3_chr21_36130079_36151562 | 36146917 | C | CTTTTTTT others(17): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG02572.hp2 HG03516.hp1 others(5): Show |
a0002a0004 | a0002c0002a0004c0006 | a0002c0002t0001a0004c0006t0001 | a0002c0002t0001g0004 a0002c0002t0001g0024 a0002c0002t0001g0086 others(4): Show |
8 | 125 | 0.0640 | 24 | c.*40 others(33): Show |
CBR3 | ENSG00000159231.6 | transcript | ENST00000290354.6 | protein_coding | 356 | chr21 | TogoVar | |||||||
CBR3_chr21_36130079_36151562 | 36146919 | C | CTTTTTTT others(17): Show |
downstream_gene_variant | MODIFIER | HG03942.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0009 | 1 | 98 | 0.0102 | 24 | c.*40 others(33): Show |
CBR3 | ENSG00000159231.6 | transcript | ENST00000290354.6 | protein_coding | 358 | chr21 | TogoVar |