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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TBC1D2_chr9_98194011_98260649 | 98257527 | CTTTTTTT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02970.hp1 HG03516.hp2 |
a0003a0005a0020 | a0003c0004a0005c0015a0020c0037 | a0003c0004t0003a0005c0015t0001a0020c0037t0001 | a0003c0004t0003g0046 a0005c0015t0001g0030 a0020c0037t0001g0043 |
3 | 366 | 0.0082 | -12 | c.-19 others(23): Show |
TBC1D2 | ENSG00000095383.20 | transcript | ENST00000465784.7 | protein_coding | 1879 | chr9 | TogoVar | |||||||
TBC1D30_chr12_64819647_64886033 | 64850876 | AGAATTTG others(5): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0013 | a0001c0013t0026 | a0001c0013t0026g0222 | 1 | 298 | 0.0034 | -12 | c.103 others(31): Show |
TBC1D30 | ENSG00000111490.15 | transcript | ENST00000539867.6 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TBC1D31_chr8_123067707_123157153 | 123070377 | GTATATAT others(5): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00558.hp1 others(39): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0017 others(38): Show |
42 | 322 | 0.1304 | -12 | c.-23 others(23): Show |
TBC1D31 | ENSG00000156787.17 | transcript | ENST00000287380.6 | protein_coding | 2329 | chr8 | TogoVar | |||||||
TBC1D31_chr8_123067707_123157153 | 123070414 | TATATATA others(5): Show |
T | upstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0016 | 1 | 322 | 0.0031 | -12 | c.-23 others(23): Show |
TBC1D31 | ENSG00000156787.17 | transcript | ENST00000287380.6 | protein_coding | 2292 | chr8 | TogoVar | |||||||
TBC1D31_chr8_123067707_123157153 | 123094507 | CTTTATTT others(5): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02572.hp1 HG02622.hp1 others(3): Show |
a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0007 a0002c0006t0001g0061 a0002c0006t0001g0064 others(3): Show |
6 | 322 | 0.0186 | -12 | c.671 others(27): Show |
TBC1D31 | ENSG00000156787.17 | transcript | ENST00000287380.6 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TBC1D31_chr8_123067707_123157153 | 123117752 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 322 | 0.0031 | -12 | c.143 others(31): Show |
TBC1D31 | ENSG00000156787.17 | transcript | ENST00000287380.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TBC1D31_chr8_123067707_123157153 | 123141844 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02723.hp1 HG02970.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 a0001c0001t0001g0276 a0001c0001t0001g0277 others(2): Show |
5 | 322 | 0.0155 | -12 | c.264 others(29): Show |
TBC1D31 | ENSG00000156787.17 | transcript | ENST00000287380.6 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TBC1D31_chr8_123067707_123157153 | 123156975 | CCAAGGGC others(5): Show |
C | downstream_gene_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01192.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0263 a0001c0002t0001g0297 a0001c0003t0001g0146 others(6): Show |
11 | 322 | 0.0342 | -12 | c.*50 others(23): Show |
TBC1D31 | ENSG00000156787.17 | transcript | ENST00000287380.6 | protein_coding | 4823 | chr8 | TogoVar | |||||||
TBC1D32_chr6_121074494_121339480 | 121098192 | GAATAATA others(5): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG01168.hp2 HG01169.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0054 a0002c0002t0004g0055 a0002c0002t0004g0056 others(1): Show |
4 | 292 | 0.0137 | -12 | c.346 others(31): Show |
TBC1D32 | ENSG00000146350.14 | transcript | ENST00000398212.7 | protein_coding | 30/31 | chr6 | TogoVar | |||||||
TBC1D32_chr6_121074494_121339480 | 121190073 | GACACACA others(5): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01070.hp1 HG01346.hp2 others(32): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0004others(5): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0013others(9): Show | a0001c0001t0001g0079 a0001c0001t0001g0198 a0002c0002t0002g0046 others(32): Show |
35 | 292 | 0.1199 | -12 | c.257 others(33): Show |
TBC1D32 | ENSG00000146350.14 | transcript | ENST00000398212.7 | protein_coding | 22/31 | chr6 | TogoVar | |||||||
TBC1D32_chr6_121074494_121339480 | 121313105 | GGTGTGTG others(5): Show |
G | intron_variant | MODIFIER | HG01515.hp1 HG02523.hp2 HG02717.hp2 others(13): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0009others(6): Show | a0001c0001t0001g0084 a0001c0001t0002g0089 a0001c0001t0002g0096 others(13): Show |
16 | 292 | 0.0548 | -12 | c.496 others(29): Show |
TBC1D32 | ENSG00000146350.14 | transcript | ENST00000398212.7 | protein_coding | 3/31 | chr6 | TogoVar | |||||||
TBC1D32_chr6_121074494_121339480 | 121334381 | CTCAGCAT others(5): Show |
C | disruptive_inframe_deletion | MODERATE | HG02572.hp1 | a0011 | a0011c0024 | a0011c0024t0020 | a0011c0024t0020g0284 | 1 | 292 | 0.0034 | -12 | c.38_ others(17): Show |
p.Gln others(11): Show |
TBC1D32 | ENSG00000146350.14 | transcript | ENST00000398212.7 | protein_coding | 1/32 | 99/5101 | 38/3774 | 13/1257 | chr6 | TogoVar | |||
TBC1D3H_chr17_36372531_36393435 | 36392234 | CGTGTGTG others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG01346.hp2 others(10): Show |
a0002a0006a0010others(2): Show | a0002c0003a0006c0006a0006c0043others(3): Show | a0002c0003t0001a0006c0006t0003a0006c0043t0003others(3): Show | a0002c0003t0001g0041 a0006c0006t0003g0010 a0006c0006t0003g0047 others(9): Show |
13 | 156 | 0.0833 | -12 | c.-39 others(23): Show |
TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 3800 | chr17 | TogoVar | |||||||
TBC1D3K_chr17_37919415_37940371 | 37920505 | TTGCACAC others(5): Show |
T | upstream_gene_variant | MODIFIER | HG02630.hp2 | a0018 | a0018c0015 | a0018c0015t0011 | a0018c0015t0011g0044 | 1 | 112 | 0.0089 | -12 | c.-40 others(23): Show |
TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 3909 | chr17 | TogoVar | |||||||
TBC1D4_chr13_75278503_75487169 | 75391032 | CCACACAC others(5): Show |
C | intron_variant | MODIFIER | NA19010.hp1 NA19074.hp2 NA19077.hp2 |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0002a0005c0008t0002a0005c0008t0007 | a0001c0001t0002g0041 a0005c0008t0002g0101 a0005c0008t0007g0102 |
3 | 214 | 0.0140 | -12 | c.499 others(31): Show |
TBC1D4 | ENSG00000136111.14 | transcript | ENST00000377636.8 | protein_coding | 1/20 | chr13 | TogoVar | |||||||
TBC1D4_chr13_75278503_75487169 | 75393145 | ACACACAC others(5): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG01496.hp1 HG02109.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0017others(2): Show | a0001c0001t0011a0002c0002t0005a0002c0002t0006others(5): Show | a0001c0001t0011g0020 a0002c0002t0005g0129 a0002c0002t0005g0182 others(6): Show |
9 | 214 | 0.0421 | -12 | c.499 others(31): Show |
TBC1D4 | ENSG00000136111.14 | transcript | ENST00000377636.8 | protein_coding | 1/20 | chr13 | TogoVar | |||||||
TBC1D4_chr13_75278503_75487169 | 75402654 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG01243.hp1 HG01884.hp1 others(18): Show |
a0001a0002a0003 | a0001c0003a0001c0005a0001c0010others(6): Show | a0001c0003t0003a0001c0005t0003a0001c0010t0022others(14): Show | a0001c0003t0003g0183 a0001c0005t0003g0184 a0001c0010t0022g0012 others(18): Show |
21 | 214 | 0.0981 | -12 | c.499 others(31): Show |
TBC1D4 | ENSG00000136111.14 | transcript | ENST00000377636.8 | protein_coding | 1/20 | chr13 | TogoVar | |||||||
TBC1D5_chr3_17152168_17747631 | 17152971 | AGCACAGT others(5): Show |
A | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG01167.hp2 others(17): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0011a0001c0001t0012others(2): Show | a0001c0001t0003g0048 a0001c0001t0003g0057 a0001c0001t0003g0059 others(17): Show |
20 | 162 | 0.1235 | -12 | c.*79 others(23): Show |
TBC1D5 | ENSG00000131374.15 | transcript | ENST00000696125.1 | protein_coding | 4196 | chr3 | TogoVar | |||||||
TBC1D5_chr3_17152168_17747631 | 17285248 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0059 | 1 | 162 | 0.0062 | -12 | c.124 others(31): Show |
TBC1D5 | ENSG00000131374.15 | transcript | ENST00000696125.1 | protein_coding | 15/22 | chr3 | TogoVar | |||||||
TBC1D5_chr3_17152168_17747631 | 17294195 | CATTTATT others(5): Show |
C | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0001 | 1 | 162 | 0.0062 | -12 | c.113 others(31): Show |
TBC1D5 | ENSG00000131374.15 | transcript | ENST00000696125.1 | protein_coding | 14/22 | chr3 | TogoVar | |||||||
TBC1D5_chr3_17152168_17747631 | 17303833 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004 a0001c0001t0002g0005 a0001c0001t0002g0045 |
3 | 162 | 0.0185 | -12 | c.113 others(31): Show |
TBC1D5 | ENSG00000131374.15 | transcript | ENST00000696125.1 | protein_coding | 14/22 | chr3 | TogoVar | |||||||
TBC1D5_chr3_17152168_17747631 | 17359059 | AAACTATA others(5): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01109.hp2 HG01433.hp1 others(29): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(29): Show |
32 | 162 | 0.1975 | -12 | c.995 others(31): Show |
TBC1D5 | ENSG00000131374.15 | transcript | ENST00000696125.1 | protein_coding | 13/22 | chr3 | TogoVar | |||||||
TBC1D5_chr3_17152168_17747631 | 17380039 | CTGTGTAT others(5): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004 a0001c0001t0002g0005 a0001c0001t0002g0045 |
3 | 162 | 0.0185 | -12 | c.613 others(29): Show |
TBC1D5 | ENSG00000131374.15 | transcript | ENST00000696125.1 | protein_coding | 9/22 | chr3 | TogoVar | |||||||
TBC1D5_chr3_17152168_17747631 | 17401799 | ATATATAC others(5): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG01934.hp2 others(8): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0046 a0001c0001t0001g0113 others(8): Show |
11 | 162 | 0.0679 | -12 | c.509 others(29): Show |
TBC1D5 | ENSG00000131374.15 | transcript | ENST00000696125.1 | protein_coding | 8/22 | chr3 | TogoVar | |||||||
TBC1D5_chr3_17152168_17747631 | 17408268 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG01433.hp1 HG02970.hp2 HG03942.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0002c0002t0001 | a0001c0001t0003g0109 a0001c0001t0004g0161 a0002c0002t0001g0084 |
3 | 162 | 0.0185 | -12 | c.168 others(29): Show |
TBC1D5 | ENSG00000131374.15 | transcript | ENST00000696125.1 | protein_coding | 4/22 | chr3 | TogoVar | |||||||
TBC1D5_chr3_17152168_17747631 | 17591233 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0124 | 1 | 162 | 0.0062 | -12 | c.-36 others(31): Show |
TBC1D5 | ENSG00000131374.15 | transcript | ENST00000696125.1 | protein_coding | 2/22 | chr3 | TogoVar | |||||||
TBC1D5_chr3_17152168_17747631 | 17591255 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 HG01256.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0002c0002t0001a0002c0002t0007 | a0001c0001t0007g0151 a0002c0002t0001g0039 a0002c0002t0001g0125 others(3): Show |
6 | 162 | 0.0370 | -12 | c.-36 others(31): Show |
TBC1D5 | ENSG00000131374.15 | transcript | ENST00000696125.1 | protein_coding | 2/22 | chr3 | TogoVar | |||||||
TBC1D5_chr3_17152168_17747631 | 17744648 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG01934.hp2 others(8): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0046 a0001c0001t0001g0113 others(8): Show |
11 | 162 | 0.0679 | -12 | c.-22 others(23): Show |
TBC1D5 | ENSG00000131374.15 | transcript | ENST00000696125.1 | protein_coding | 2018 | chr3 | TogoVar | |||||||
TBC1D8B_chrX_106797673_106881150 | 106842601 | CTCTATCT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp2 HG00741.hp1 others(14): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 others(14): Show |
17 | 226 | 0.0752 | -12 | c.171 others(31): Show |
TBC1D8B | ENSG00000133138.20 | transcript | ENST00000357242.10 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
TBC1D8_chr2_101002228_101156382 | 101134193 | TCTCTCAC others(5): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(78): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0002a0002c0003others(8): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(11): Show | a0001c0001t0001g0003 a0001c0001t0001g0085 a0001c0001t0001g0096 others(78): Show |
81 | 332 | 0.2440 | -12 | c.127 others(31): Show |
TBC1D8 | ENSG00000204634.13 | transcript | ENST00000409318.2 | protein_coding | 1/19 | chr2 | TogoVar | |||||||
TBC1D8_chr2_101002228_101156382 | 101134195 | TCTCACAC others(5): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02572.hp1 HG02615.hp1 others(16): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0025a0002c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0025t0003others(8): Show | a0001c0001t0001g0004 a0001c0001t0001g0116 a0001c0001t0001g0151 others(16): Show |
19 | 332 | 0.0572 | -12 | c.127 others(31): Show |
TBC1D8 | ENSG00000204634.13 | transcript | ENST00000409318.2 | protein_coding | 1/19 | chr2 | TogoVar | |||||||
TBC1D9_chr4_140615782_140761385 | 140687343 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG02451.hp2 HG02486.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003a0001c0008 | a0001c0002t0001a0001c0002t0006a0001c0003t0003others(1): Show | a0001c0002t0001g0100 a0001c0002t0006g0164 a0001c0003t0003g0285 others(1): Show |
4 | 298 | 0.0134 | -12 | c.242 others(27): Show |
TBC1D9 | ENSG00000109436.8 | transcript | ENST00000442267.3 | protein_coding | 2/20 | chr4 | TogoVar | |||||||
TBC1D9_chr4_140615782_140761385 | 140709238 | TCTCTCTC others(5): Show |
T | intron_variant | MODIFIER | HG01261.hp2 HG02886.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0004a0001c0008a0001c0014 | a0001c0004t0001a0001c0008t0001a0001c0008t0005others(1): Show | a0001c0004t0001g0086 a0001c0008t0001g0240 a0001c0008t0005g0241 others(1): Show |
4 | 298 | 0.0134 | -12 | c.131 others(29): Show |
TBC1D9 | ENSG00000109436.8 | transcript | ENST00000442267.3 | protein_coding | 1/20 | chr4 | TogoVar | |||||||
TBC1D9_chr4_140615782_140761385 | 140709244 | TCTCTCAC others(5): Show |
T | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 298 | 0.0034 | -12 | c.131 others(29): Show |
TBC1D9 | ENSG00000109436.8 | transcript | ENST00000442267.3 | protein_coding | 1/20 | chr4 | TogoVar | |||||||
TBC1D9_chr4_140615782_140761385 | 140719115 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG02647.hp2 HG03139.hp1 NA19009.hp1 |
a0001 | a0001c0006a0001c0008 | a0001c0006t0001a0001c0008t0001a0001c0008t0002 | a0001c0006t0001g0205 a0001c0008t0001g0185 a0001c0008t0002g0186 |
3 | 298 | 0.0101 | -12 | c.131 others(31): Show |
TBC1D9 | ENSG00000109436.8 | transcript | ENST00000442267.3 | protein_coding | 1/20 | chr4 | TogoVar | |||||||
TBC1D9_chr4_140615782_140761385 | 140744879 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0240 | 1 | 298 | 0.0034 | -12 | c.130 others(31): Show |
TBC1D9 | ENSG00000109436.8 | transcript | ENST00000442267.3 | protein_coding | 1/20 | chr4 | TogoVar | |||||||
TBCA_chr5_77686166_77781339 | 77701682 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 354 | 0.0028 | -12 | c.159 others(29): Show |
TBCA | ENSG00000171530.15 | transcript | ENST00000380377.9 | protein_coding | 2/3 | chr5 | TogoVar | |||||||
TBCA_chr5_77686166_77781339 | 77719792 | TGTCCCTT others(5): Show |
T | intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 354 | 0.0028 | -12 | c.54- others(29): Show |
TBCA | ENSG00000171530.15 | transcript | ENST00000380377.9 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
TBCB_chr19_36110468_36130941 | 36126727 | CAAAAAAA others(5): Show |
C | downstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 448 | 0.0022 | -12 | c.*94 others(21): Show |
TBCB | ENSG00000105254.12 | transcript | ENST00000221855.8 | protein_coding | 787 | chr19 | TogoVar | |||||||
TBCD_chr17_82747065_82950914 | 82779000 | GTTTATTT others(5): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG01167.hp2 HG01169.hp2 others(11): Show |
a0002 | a0002c0008 | a0002c0008t0007a0002c0008t0019 | a0002c0008t0007g0140 a0002c0008t0007g0148 a0002c0008t0007g0149 others(11): Show |
14 | 318 | 0.0440 | -12 | c.639 others(29): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 6/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82797962 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp2 HG02559.hp2 others(1): Show |
a0001a0002 | a0001c0002a0001c0014a0002c0003 | a0001c0002t0001a0001c0014t0001a0002c0003t0003 | a0001c0002t0001g0241 a0001c0014t0001g0274 a0002c0003t0003g0253 others(1): Show |
4 | 318 | 0.0126 | -12 | c.817 others(27): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 8/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82805958 | CCGAAGAT others(5): Show |
C | disruptive_inframe_deletion | MODERATE | HG02148.hp2 HG02965.hp2 |
a0006 | a0006c0039a0006c0040 | a0006c0039t0005a0006c0040t0010 | a0006c0039t0005g0120 a0006c0040t0010g0080 |
2 | 318 | 0.0063 | -12 | c.104 others(21): Show |
p.Glu others(13): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 10/39 | 1178/7159 | 1049/3579 | 350/1192 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
TBCD_chr17_82747065_82950914 | 82855235 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG03516.hp1 NA18946.hp1 |
a0001a0002 | a0001c0001a0002c0043 | a0001c0001t0002a0002c0043t0036 | a0001c0001t0002g0271 a0002c0043t0036g0001 |
2 | 318 | 0.0063 | -12 | c.131 others(33): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 13/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82885735 | GAATATGA others(5): Show |
G | intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0024 | 1 | 318 | 0.0031 | -12 | c.153 others(31): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 15/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82887166 | TGTGCGCG others(5): Show |
T | intron_variant | MODIFIER | HG01358.hp2 HG02145.hp2 HG02723.hp2 others(8): Show |
a0002a0006a0012 | a0002c0006a0006c0039a0012c0021 | a0002c0006t0005a0002c0006t0009a0002c0006t0021others(2): Show | a0002c0006t0005g0108 a0002c0006t0005g0214 a0002c0006t0005g0215 others(8): Show |
11 | 318 | 0.0346 | -12 | c.153 others(31): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 15/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82887172 | CGCGCGCG others(5): Show |
C | intron_variant | MODIFIER | HG02895.hp2 | a0002 | a0002c0007 | a0002c0007t0033 | a0002c0007t0033g0136 | 1 | 318 | 0.0031 | -12 | c.153 others(31): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 15/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82922360 | TCAAAAAC others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(102): Show |
a0001a0002a0005others(6): Show | a0001c0017a0001c0036a0002c0003others(15): Show | a0001c0017t0003a0001c0036t0014a0002c0003t0003others(27): Show | a0001c0017t0003g0057 a0001c0036t0014g0117 a0002c0003t0003g0006 others(102): Show |
105 | 318 | 0.3302 | -12 | c.217 others(29): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 25/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235364358 | TTTTATTT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG01081.hp1 HG01891.hp1 HG02572.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0014a0002c0002t0010 | a0001c0001t0003g0104 a0001c0001t0014g0018 a0002c0002t0010g0017 others(2): Show |
5 | 268 | 0.0187 | -12 | c.-31 others(23): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3068 | chr1 | TogoVar | |||||||
TBCE_chr1_235362427_235457443 | 235371038 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02897.hp1 HG03017.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0022 | a0001c0001t0005g0160 a0001c0001t0022g0206 |
2 | 268 | 0.0075 | -12 | c.-32 others(29): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235380161 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02280.hp1 NA19012.hp1 others(2): Show |
a0001a0007a0008 | a0001c0001a0007c0011a0008c0010 | a0001c0001t0003a0001c0001t0007a0007c0011t0001others(1): Show | a0001c0001t0003g0067 a0001c0001t0007g0265 a0001c0001t0007g0266 others(2): Show |
5 | 268 | 0.0187 | -12 | c.100 others(25): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |