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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CATSPER2_chr15_43623503_43653844 | 43627676 | T | TTGTGTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 HG02523.hp2 HG02572.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0006a0001c0001t0017a0003c0003t0008 | a0001c0001t0006g0012 a0001c0001t0017g0086 a0003c0003t0008g0022 |
5 | 213 | 0.0235 | 8 | c.*30 others(19): Show |
CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 826 | chr15 | TogoVar | |||||||
CATSPER2_chr15_43623503_43653844 | 43638286 | C | CTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(55): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0012a0002c0002t0023 | a0002c0002t0002g0004 a0002c0002t0002g0007 a0002c0002t0002g0014 others(28): Show |
58 | 263 | 0.2205 | 8 | c.842 others(23): Show |
CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 7/12 | chr15 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91586571 | A | AAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03209.hp1 HG03516.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0066 a0001c0001t0001g0074 a0001c0001t0001g0087 others(9): Show |
12 | 30 | 0.4000 | 8 | c.313 others(25): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 26/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91612012 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG01074.hp1 others(31): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(3): Show | a0001c0001t0001g0017 a0001c0001t0001g0031 a0001c0001t0001g0052 others(31): Show |
34 | 199 | 0.1709 | 8 | c.240 others(27): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 20/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91619861 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 NA18939.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0109 a0001c0002t0002g0257 |
2 | 50 | 0.0400 | 8 | c.226 others(27): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 19/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91640388 | T | TCCCCCCT others(1): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02809.hp2 HG03688.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0002c0003t0001a0003c0004t0001 | a0001c0001t0001g0086 a0001c0001t0001g0190 a0001c0001t0001g0263 others(2): Show |
5 | 269 | 0.0186 | 8 | c.143 others(27): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 15/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91650689 | T | TATCCATC others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG00735.hp1 others(189): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 others(189): Show |
192 | 221 | 0.8688 | 8 | c.143 others(27): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 15/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91661524 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01168.hp1 HG01169.hp1 others(35): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0019 others(35): Show |
38 | 78 | 0.4872 | 8 | c.128 others(27): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 14/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91702675 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00741.hp2 HG01074.hp1 others(24): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0010 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 others(24): Show |
27 | 75 | 0.3600 | 8 | c.616 others(25): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 7/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91709524 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02135.hp2 HG02300.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(3): Show | a0001c0001t0001g0013 a0001c0001t0001g0153 a0001c0001t0004g0004 others(7): Show |
10 | 39 | 0.2564 | 8 | c.371 others(25): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 5/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91736501 | A | AAAGGAAG others(1): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 HG03486.hp1 NA18522.hp2 |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0001a0001c0002t0002a0003c0004t0001 | a0001c0002t0001g0025 a0001c0002t0002g0023 a0003c0004t0001g0026 |
3 | 140 | 0.0214 | 8 | c.-45 others(19): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 4416 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91736526 | A | AAGGAAGG others(1): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG00735.hp1 HG01928.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0168 a0001c0001t0001g0170 others(17): Show |
21 | 228 | 0.0921 | 8 | c.-45 others(19): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 4441 | chr14 | TogoVar | |||||||
CATSPERD_chr19_5715637_5783734 | 5716259 | C | CATATATA others(1): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 HG01169.hp2 HG02027.hp2 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0001others(2): Show | a0001c0001t0001g0170 a0001c0001t0001g0175 a0002c0002t0001g0178 others(7): Show |
10 | 56 | 0.1786 | 8 | c.-44 others(19): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4377 | chr19 | TogoVar | |||||||
CATSPERD_chr19_5715637_5783734 | 5730561 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01346.hp1 HG01952.hp2 others(34): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0034a0001c0040others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0034t0001others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0022 others(34): Show |
37 | 117 | 0.3162 | 8 | c.276 others(23): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5731560 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01071.hp1 HG01071.hp2 others(28): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(5): Show | a0001c0001t0001g0006 a0001c0001t0001g0044 a0001c0001t0001g0045 others(28): Show |
31 | 84 | 0.3690 | 8 | c.276 others(25): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5733335 | C | CTTTCCTT others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02451.hp2 HG03486.hp2 |
a0001a0021a0027 | a0001c0045a0021c0036a0027c0020 | a0001c0045t0001a0021c0036t0001a0027c0020t0001 | a0001c0045t0001g0151 a0021c0036t0001g0294 a0027c0020t0001g0030 |
3 | 253 | 0.0119 | 8 | c.277 others(23): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4/21 | chr19 | TogoVar | |||||||
CATSPERD_chr19_5715637_5783734 | 5743606 | G | GAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02257.hp1 HG02572.hp1 others(16): Show |
a0001a0004a0006others(9): Show | a0001c0001a0004c0003a0006c0007others(9): Show | a0001c0001t0001a0004c0003t0003a0006c0007t0001others(10): Show | a0001c0001t0001g0001 a0004c0003t0003g0109 a0006c0007t0001g0027 others(16): Show |
19 | 86 | 0.2209 | 8 | c.574 others(23): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5763847 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01069.hp2 HG01071.hp1 others(24): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0040a0002c0002others(6): Show | a0001c0001t0001a0001c0040t0001a0002c0002t0001others(7): Show | a0001c0001t0001g0006 a0001c0001t0001g0044 a0001c0001t0001g0105 others(24): Show |
27 | 110 | 0.2455 | 8 | c.150 others(25): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5768320 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02109.hp2 HG02145.hp2 others(20): Show |
a0001a0003a0005others(7): Show | a0001c0001a0003c0004a0005c0006others(7): Show | a0001c0001t0001a0003c0004t0001a0005c0006t0001others(7): Show | a0001c0001t0001g0021 a0001c0001t0001g0088 a0001c0001t0001g0096 others(20): Show |
23 | 112 | 0.2054 | 8 | c.163 others(24): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244516335 | T | TTTTGTTT others(1): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02723.hp1 HG02895.hp1 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0003 a0001c0007t0001g0144 a0001c0007t0001g0146 |
3 | 175 | 0.0171 | 8 | c.430 others(25): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244528785 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02055.hp1 HG03927.hp1 others(1): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0003a0005c0008t0003 | a0001c0001t0001g0053 a0001c0001t0001g0086 a0001c0001t0003g0156 others(1): Show |
4 | 99 | 0.0404 | 8 | c.536 others(27): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244528787 | A | ACGCACGC others(1): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02896.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0031 a0001c0003t0001g0089 |
2 | 195 | 0.0103 | 8 | c.536 others(27): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244553602 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01109.hp1 HG01433.hp1 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0092 a0001c0001t0001g0125 a0001c0001t0001g0128 others(13): Show |
16 | 39 | 0.4103 | 8 | c.102 others(25): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244557532 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01934.hp2 HG01978.hp1 HG02148.hp1 others(14): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0090 a0001c0001t0001g0119 a0001c0001t0002g0002 others(14): Show |
17 | 26 | 0.6538 | 8 | c.103 others(27): 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(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00621.hp2 others(48): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0021 others(48): Show |
51 | 85 | 0.6000 | 8 | c.195 others(27): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244578843 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG01346.hp2 NA18945.hp2 NA19003.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0053 a0001c0001t0001g0063 a0001c0001t0001g0064 others(1): Show |
4 | 178 | 0.0225 | 8 | c.195 others(27): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244621041 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | NA19002.hp2 NA19030.hp2 NA19054.hp1 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0013t0002 | a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0013t0002g0019 |
3 | 189 | 0.0159 | 8 | c.264 others(27): 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(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(93): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0020 others(93): Show |
96 | 147 | 0.6531 | 8 | c.264 others(27): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244624128 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02922.hp2 HG03098.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(2): Show | a0001c0001t0001g0094 a0001c0001t0003g0182 a0001c0003t0001g0044 others(2): Show |
5 | 6 | 0.8333 | 8 | c.264 others(27): 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(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG01081.hp1 others(5): Show |
a0001a0002 | a0001c0005a0002c0003 | a0001c0005t0001a0002c0003t0001 | a0001c0005t0001g0017 a0001c0005t0001g0194 a0001c0005t0001g0201 others(4): Show |
8 | 199 | 0.0402 | 8 | c.325 others(25): Show |
CATSPERG | ENSG00000099338.23 | transcript | ENST00000409235.8 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERG_chr19_38330830_38375943 | 38357515 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00558.hp1 others(123): Show |
a0001a0002a0006others(2): Show | a0001c0005a0001c0007a0001c0008others(9): Show | a0001c0005t0001a0001c0007t0001a0001c0008t0001others(9): Show | a0001c0005t0001g0007 a0001c0005t0001g0008 a0001c0005t0001g0015 others(115): Show |
126 | 293 | 0.4300 | 8 | c.131 others(25): Show |
CATSPERG | ENSG00000099338.23 | transcript | ENST00000409235.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CAT_chr11_34433934_34477060 | 34466780 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01069.hp1 HG01071.hp1 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0009 a0001c0002t0001g0174 a0001c0002t0001g0175 others(3): Show |
10 | 223 | 0.0448 | 8 | c.132 others(27): Show |
CAT | ENSG00000121691.7 | transcript | ENST00000241052.5 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116555518 | A | AAGAAAGA others(1): Show |
intron_variant | MODIFIER | NA18522.hp1 NA18522.hp2 NA18971.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0067 others(1): Show |
5 | 286 | 0.0175 | 8 | c.196 others(25): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116555619 | A | AAGGGAGG others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02683.hp2 HG02738.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0097 a0001c0001t0005g0105 a0001c0001t0005g0110 others(1): Show |
4 | 269 | 0.0149 | 8 | c.196 others(25): 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(1): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 HG00673.hp2 HG01069.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0025 others(6): Show |
12 | 67 | 0.1791 | 8 | c.*24 others(19): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 533 | chr7 | TogoVar | |||||||
CAV1_chr7_116520036_116566179 | 116562832 | A | AAAGAAAG others(1): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 HG02723.hp1 HG03098.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0014 a0001c0001t0006g0042 a0001c0001t0006g0043 others(3): Show |
6 | 337 | 0.0178 | 8 | c.*35 others(19): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 1654 | chr7 | TogoVar | |||||||
CAV1_chr7_116520036_116566179 | 116562940 | G | GAGGAAGG others(1): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp2 others(86): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(66): Show |
89 | 130 | 0.6846 | 8 | c.*36 others(19): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 1762 | chr7 | TogoVar | |||||||
CAV2_chr7_116494738_116513541 | 116498910 | C | CCACACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 HG02257.hp1 HG03491.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007 | a0001c0001t0001g0001 a0001c0001t0005g0018 a0001c0001t0007g0006 |
4 | 288 | 0.0139 | 8 | c.-87 others(17): Show |
CAV2 | ENSG00000105971.15 | transcript | ENST00000222693.5 | protein_coding | 827 | chr7 | TogoVar | |||||||
CAVIN1_chr17_42397449_42428256 | 42401668 | G | GGAAAGAA others(1): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 HG01433.hp2 HG01516.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0075 |
3 | 302 | 0.0099 | 8 | c.*30 others(19): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 780 | chr17 | TogoVar | |||||||
CAVIN1_chr17_42397449_42428256 | 42419882 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02258.hp2 HG02965.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0064 a0001c0001t0003g0054 a0001c0001t0003g0063 others(2): Show |
5 | 166 | 0.0301 | 8 | c.471 others(25): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
CBFA2T2_chr20_33485096_33655030 | 33529743 | T | TTTTATAT others(1): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02155.hp2 HG02559.hp2 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0004a0001c0001t0007a0001c0006t0007 | a0001c0001t0004g0037 a0001c0001t0004g0057 a0001c0001t0007g0009 others(1): Show |
4 | 13 | 0.3077 | 8 | c.34+ others(25): 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(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02015.hp2 HG02280.hp2 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0198 a0001c0001t0001g0226 a0001c0001t0001g0244 others(7): Show |
10 | 185 | 0.0541 | 8 | c.34+ others(25): 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(1): Show |
intron_variant | MODIFIER | HG02132.hp2 HG03453.hp1 HG03831.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0045 | a0001c0001t0001g0246 a0001c0001t0007g0009 a0001c0002t0045g0216 |
3 | 60 | 0.0500 | 8 | c.34+ others(25): 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(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00639.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(4): Show | a0001c0001t0003g0071 a0001c0001t0003g0088 a0001c0001t0003g0089 others(28): Show |
31 | 210 | 0.1476 | 8 | c.35- others(25): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33581480 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02486.hp1 HG02809.hp1 others(2): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0012a0001c0010t0028 | a0001c0001t0012g0162 a0001c0001t0012g0163 a0001c0001t0012g0164 others(2): Show |
5 | 280 | 0.0179 | 8 | c.35- others(25): 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(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG01106.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0198 a0001c0001t0001g0238 a0001c0001t0001g0247 others(10): Show |
13 | 148 | 0.0878 | 8 | c.421 others(25): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33623559 | A | ATGTTTGT others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01167.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0020 |
3 | 131 | 0.0229 | 8 | c.692 others(23): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88965088 | T | TATCCATC others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00642.hp2 others(26): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0031others(5): Show | a0001c0001t0001g0066 a0001c0001t0001g0093 a0001c0001t0001g0111 others(26): Show |
29 | 254 | 0.1142 | 8 | c.151 others(27): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88979888 | G | GGTGGATG others(1): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00609.hp1 others(104): Show |
a0001a0006a0009 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(20): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(103): Show |
107 | 282 | 0.3794 | 8 | c.-30 others(19): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 2682 | chr16 | TogoVar | |||||||
CBFB_chr16_67024149_67106058 | 67066393 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG02280.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0200 others(9): Show |
12 | 61 | 0.1967 | 8 | c.283 others(23): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |