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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TSC22D1_chr13_44427143_44581330 | 44455943 | A | AAG | intron_variant | MODIFIER | HG00323.hp1 HG00733.hp1 HG01928.hp2 others(15): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0005a0001c0006others(4): Show | a0001c0001t0003a0001c0005t0004a0001c0006t0006others(6): Show | a0001c0001t0003g0036 a0001c0005t0004g0238 a0001c0005t0004g0240 others(15): Show |
18 | 240 | 0.0750 | 2 | c.291 others(23): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44457637 | C | CAA | intron_variant | MODIFIER | HG02056.hp2 HG02572.hp2 HG02738.hp1 others(9): Show |
a0001 | a0001c0001a0001c0006a0001c0015 | a0001c0001t0001a0001c0001t0002a0001c0006t0006others(1): Show | a0001c0001t0001g0044 a0001c0001t0001g0088 a0001c0001t0001g0106 others(9): Show |
12 | 240 | 0.0500 | 2 | c.291 others(23): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44478894 | A | AGT | intron_variant | MODIFIER | HG00735.hp1 HG01928.hp1 HG02615.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0040 a0001c0001t0001g0052 a0001c0001t0001g0182 others(11): Show |
14 | 240 | 0.0583 | 2 | c.291 others(23): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44487498 | C | CAA | intron_variant | MODIFIER | HG02572.hp2 HG02615.hp1 HG02615.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0042 others(3): Show |
6 | 240 | 0.0250 | 2 | c.291 others(23): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44489206 | C | CAA | intron_variant | MODIFIER | HG00597.hp1 HG02257.hp1 HG02622.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0121 a0001c0001t0004g0235 a0001c0001t0004g0236 others(4): Show |
7 | 240 | 0.0292 | 2 | c.291 others(23): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44490935 | A | AAT | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00558.hp1 others(64): Show |
a0001a0006a0007others(1): Show | a0001c0001a0001c0010a0001c0015others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0106 a0001c0001t0001g0121 a0001c0001t0001g0166 others(64): Show |
67 | 240 | 0.2792 | 2 | c.291 others(23): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44494375 | C | CAA | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00639.hp1 others(43): Show |
a0001a0006a0010 | a0001c0001a0001c0010a0001c0015others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0023 a0001c0001t0001g0041 a0001c0001t0001g0044 others(43): Show |
46 | 240 | 0.1917 | 2 | c.291 others(23): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44511619 | T | TAC | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00597.hp1 others(54): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0005a0001c0010others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(9): Show | a0001c0001t0001g0020 a0001c0001t0001g0081 a0001c0001t0001g0106 others(54): Show |
57 | 240 | 0.2375 | 2 | c.291 others(23): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44517333 | A | AAC | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(76): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0005a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(76): Show |
79 | 240 | 0.3292 | 2 | c.291 others(23): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44517823 | G | GTA | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02280.hp2 others(3): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0001t0012a0001c0014t0003 | a0001c0001t0001g0020 a0001c0001t0001g0186 a0001c0001t0001g0187 others(3): Show |
6 | 240 | 0.0250 | 2 | c.291 others(23): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44517827 | G | GTA | intron_variant | MODIFIER | HG01516.hp1 HG04199.hp2 NA18957.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 a0001c0001t0001g0175 a0001c0001t0001g0176 others(1): Show |
4 | 240 | 0.0167 | 2 | c.291 others(23): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44534231 | G | GAA | intron_variant | MODIFIER | HG02615.hp2 HG02886.hp2 HG02896.hp1 others(6): Show |
a0001a0002 | a0001c0006a0002c0002 | a0001c0006t0006a0002c0002t0001 | a0001c0006t0006g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 others(6): Show |
9 | 240 | 0.0375 | 2 | c.291 others(23): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44539716 | A | AGG | intron_variant | MODIFIER | HG02615.hp2 HG02647.hp1 HG02886.hp2 others(7): Show |
a0001a0002 | a0001c0006a0002c0002 | a0001c0006t0006a0001c0006t0021a0002c0002t0001 | a0001c0006t0006g0003 a0001c0006t0021g0232 a0002c0002t0001g0004 others(7): Show |
10 | 240 | 0.0417 | 2 | c.291 others(23): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44546749 | C | CGT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(175): Show |
a0001a0006a0007others(1): Show | a0001c0001a0001c0005a0001c0010others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(175): Show |
178 | 240 | 0.7417 | 2 | c.291 others(23): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44551306 | T | TGG | intron_variant | MODIFIER | HG00544.hp1 HG01192.hp2 HG01255.hp2 others(12): Show |
a0001a0008 | a0001c0001a0008c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(2): Show | a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 others(12): Show |
15 | 240 | 0.0625 | 2 | c.291 others(23): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44551310 | G | GGT | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00597.hp1 others(67): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0010a0001c0015others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0040 a0001c0001t0001g0051 a0001c0001t0001g0085 others(67): Show |
70 | 240 | 0.2917 | 2 | c.291 others(23): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44551389 | G | GGT | intron_variant | MODIFIER | HG00558.hp1 HG01074.hp1 HG01099.hp2 others(16): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0002g0103 others(16): Show |
19 | 240 | 0.0792 | 2 | c.291 others(23): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TSC22D2_chr3_150403298_150471422 | 150420824 | G | GTA | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00609.hp2 others(34): Show |
a0001 | a0001c0003a0001c0005a0001c0014 | a0001c0003t0004a0001c0003t0022a0001c0003t0026others(9): Show | a0001c0003t0004g0005 a0001c0003t0004g0036 a0001c0003t0004g0158 others(27): Show |
37 | 404 | 0.0916 | 2 | c.195 others(21): Show |
TSC22D2 | ENSG00000196428.13 | transcript | ENST00000688009.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TSC22D2_chr3_150403298_150471422 | 150428594 | T | TAA | intron_variant | MODIFIER | HG01123.hp1 HG01192.hp1 HG01346.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0040a0001c0001t0044others(1): Show | a0001c0001t0016g0024 a0001c0001t0016g0025 a0001c0001t0016g0089 others(5): Show |
10 | 404 | 0.0248 | 2 | c.195 others(23): Show |
TSC22D2 | ENSG00000196428.13 | transcript | ENST00000688009.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TSC22D2_chr3_150403298_150471422 | 150431224 | C | CAA | intron_variant | MODIFIER | HG01243.hp2 HG01258.hp2 HG02027.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0030a0002c0002t0005others(6): Show | a0001c0001t0001g0250 a0001c0001t0030g0272 a0002c0002t0005g0214 others(6): Show |
9 | 404 | 0.0223 | 2 | c.195 others(23): Show |
TSC22D2 | ENSG00000196428.13 | transcript | ENST00000688009.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TSC22D2_chr3_150403298_150471422 | 150446093 | C | CAA | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp1 HG02622.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0112a0001c0003t0004a0001c0006t0043others(1): Show | a0001c0001t0112g0267 a0001c0003t0004g0161 a0001c0003t0004g0168 others(2): Show |
6 | 404 | 0.0149 | 2 | c.195 others(23): Show |
TSC22D2 | ENSG00000196428.13 | transcript | ENST00000688009.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TSC22D2_chr3_150403298_150471422 | 150448874 | T | TTG | intron_variant | MODIFIER | HG02630.hp2 HG02896.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0013a0001c0005t0107 | a0001c0001t0001g0200 a0001c0005t0013g0020 a0001c0005t0107g0020 |
4 | 404 | 0.0099 | 2 | c.195 others(21): Show |
TSC22D2 | ENSG00000196428.13 | transcript | ENST00000688009.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TSC22D2_chr3_150403298_150471422 | 150448876 | G | GTA | intron_variant | MODIFIER | HG01074.hp1 HG01884.hp1 HG01928.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0006a0001c0001t0008a0001c0001t0024others(3): Show | a0001c0001t0006g0044 a0001c0001t0008g0071 a0001c0001t0024g0046 others(4): Show |
8 | 404 | 0.0198 | 2 | c.195 others(21): Show |
TSC22D2 | ENSG00000196428.13 | transcript | ENST00000688009.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TSC22D2_chr3_150403298_150471422 | 150462639 | C | CTT | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp2 others(149): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0017others(42): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 others(121): Show |
152 | 404 | 0.3762 | 2 | c.*40 others(13): Show |
TSC22D2 | ENSG00000196428.13 | transcript | ENST00000688009.1 | protein_coding | 3/3 | 4019 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TSC22D2_chr3_150403298_150471422 | 150466191 | T | TCA | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00639.hp2 HG00642.hp1 others(27): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0082a0001c0001t0095a0001c0001t0118others(9): Show | a0001c0001t0082g0007 a0001c0001t0095g0269 a0001c0001t0118g0084 others(24): Show |
30 | 404 | 0.0743 | 2 | c.*75 others(13): Show |
TSC22D2 | ENSG00000196428.13 | transcript | ENST00000688009.1 | protein_coding | 3/3 | 7592 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TSC22D3_chrX_107708221_107780787 | 107708518 | A | AAC | downstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 216 | 0.0046 | 2 | c.*60 others(13): Show |
TSC22D3 | ENSG00000157514.18 | transcript | ENST00000372383.9 | protein_coding | 4702 | chrX | TogoVar | |||||||
TSC22D3_chrX_107708221_107780787 | 107710566 | G | GCC | downstream_gene_variant | MODIFIER | HG02486.hp1 HG02630.hp1 HG02630.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0029 a0001c0001t0001g0032 others(8): Show |
12 | 216 | 0.0556 | 2 | c.*39 others(13): Show |
TSC22D3 | ENSG00000157514.18 | transcript | ENST00000372383.9 | protein_coding | 2654 | chrX | TogoVar | |||||||
TSC22D3_chrX_107708221_107780787 | 107712031 | A | AAC | downstream_gene_variant | MODIFIER | HG02717.hp1 HG02976.hp2 NA18967.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0007 | a0001c0001t0001g0029 a0001c0001t0001g0039 a0001c0001t0001g0191 others(1): Show |
4 | 216 | 0.0185 | 2 | c.*24 others(13): Show |
TSC22D3 | ENSG00000157514.18 | transcript | ENST00000372383.9 | protein_coding | 1189 | chrX | TogoVar | |||||||
TSC22D3_chrX_107708221_107780787 | 107712033 | C | CAA | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02886.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 |
3 | 216 | 0.0139 | 2 | c.*24 others(13): Show |
TSC22D3 | ENSG00000157514.18 | transcript | ENST00000372383.9 | protein_coding | 1187 | chrX | TogoVar | |||||||
TSC22D3_chrX_107708221_107780787 | 107734878 | T | TAA | intron_variant | MODIFIER | HG01258.hp1 HG02074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 a0001c0001t0001g0193 |
2 | 216 | 0.0093 | 2 | c.321 others(21): Show |
TSC22D3 | ENSG00000157514.18 | transcript | ENST00000372383.9 | protein_coding | 1/2 | chrX | TogoVar | |||||||
TSC22D3_chrX_107708221_107780787 | 107742260 | T | TGA | intron_variant | MODIFIER | HG01361.hp1 HG01891.hp1 HG02056.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0157 others(1): Show |
4 | 216 | 0.0185 | 2 | c.321 others(21): Show |
TSC22D3 | ENSG00000157514.18 | transcript | ENST00000372383.9 | protein_coding | 1/2 | chrX | TogoVar | |||||||
TSC22D3_chrX_107708221_107780787 | 107742281 | A | AAG | intron_variant | MODIFIER | HG00741.hp1 HG01192.hp1 HG02071.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0025 a0001c0001t0001g0077 others(10): Show |
13 | 216 | 0.0602 | 2 | c.321 others(21): Show |
TSC22D3 | ENSG00000157514.18 | transcript | ENST00000372383.9 | protein_coding | 1/2 | chrX | TogoVar | |||||||
TSC22D3_chrX_107708221_107780787 | 107749178 | T | TAC | intron_variant | MODIFIER | HG01243.hp1 HG03453.hp2 NA19007.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0089 a0001c0001t0001g0152 others(2): Show |
5 | 216 | 0.0232 | 2 | c.320 others(21): Show |
TSC22D3 | ENSG00000157514.18 | transcript | ENST00000372383.9 | protein_coding | 1/2 | chrX | TogoVar | |||||||
TSC22D3_chrX_107708221_107780787 | 107762846 | C | CTT | intron_variant | MODIFIER | HG00741.hp2 HG01071.hp1 HG02027.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0040 others(5): Show |
8 | 216 | 0.0370 | 2 | c.320 others(21): Show |
TSC22D3 | ENSG00000157514.18 | transcript | ENST00000372383.9 | protein_coding | 1/2 | chrX | TogoVar | |||||||
TSC22D3_chrX_107708221_107780787 | 107766452 | G | GCC | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 216 | 0.0046 | 2 | c.320 others(19): Show |
TSC22D3 | ENSG00000157514.18 | transcript | ENST00000372383.9 | protein_coding | 1/2 | chrX | TogoVar | |||||||
TSC22D3_chrX_107708221_107780787 | 107766891 | G | GCT | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp2 HG01071.hp1 others(94): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0011 others(92): Show |
97 | 216 | 0.4491 | 2 | c.320 others(19): Show |
TSC22D3 | ENSG00000157514.18 | transcript | ENST00000372383.9 | protein_coding | 1/2 | chrX | TogoVar | |||||||
TSC22D3_chrX_107708221_107780787 | 107767452 | T | TGC | intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 216 | 0.0046 | 2 | c.320 others(19): Show |
TSC22D3 | ENSG00000157514.18 | transcript | ENST00000372383.9 | protein_coding | 1/2 | chrX | TogoVar | |||||||
TSC22D3_chrX_107708221_107780787 | 107769715 | T | TCA | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG00741.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0012 others(30): Show |
34 | 216 | 0.1574 | 2 | c.320 others(19): Show |
TSC22D3 | ENSG00000157514.18 | transcript | ENST00000372383.9 | protein_coding | 1/2 | chrX | TogoVar | |||||||
TSC22D3_chrX_107708221_107780787 | 107776436 | T | TGG | upstream_gene_variant | MODIFIER | HG02559.hp1 HG02572.hp1 HG02886.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0030 a0001c0001t0001g0047 a0001c0001t0001g0049 others(5): Show |
8 | 216 | 0.0370 | 2 | c.-10 others(13): Show |
TSC22D3 | ENSG00000157514.18 | transcript | ENST00000372383.9 | protein_coding | 650 | chrX | TogoVar | |||||||
TSC22D3_chrX_107708221_107780787 | 107776864 | C | CCT | upstream_gene_variant | MODIFIER | NA18985.hp2 | a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0207 | 1 | 216 | 0.0046 | 2 | c.-14 others(13): Show |
TSC22D3 | ENSG00000157514.18 | transcript | ENST00000372383.9 | protein_coding | 1078 | chrX | TogoVar | |||||||
TSC22D3_chrX_107708221_107780787 | 107779738 | A | ATT | upstream_gene_variant | MODIFIER | HG01169.hp2 HG02056.hp1 HG02145.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0026 others(33): Show |
37 | 216 | 0.1713 | 2 | c.-43 others(13): Show |
TSC22D3 | ENSG00000157514.18 | transcript | ENST00000372383.9 | protein_coding | 3952 | chrX | TogoVar | |||||||
TSC22D3_chrX_107708221_107780787 | 107780629 | C | CTT | upstream_gene_variant | MODIFIER | HG01516.hp2 HG02145.hp1 HG02258.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 a0001c0001t0001g0188 a0001c0001t0001g0200 others(1): Show |
4 | 216 | 0.0185 | 2 | c.-52 others(13): Show |
TSC22D3 | ENSG00000157514.18 | transcript | ENST00000372383.9 | protein_coding | 4843 | chrX | TogoVar | |||||||
TSC22D4_chr7_100461519_100484214 | 100464922 | A | AAG | downstream_gene_variant | MODIFIER | NA18952.hp1 NA18999.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 a0001c0001t0001g0142 a0001c0001t0001g0155 |
3 | 378 | 0.0079 | 2 | c.*20 others(13): Show |
TSC22D4 | ENSG00000166925.9 | transcript | ENST00000300181.7 | protein_coding | 1596 | chr7 | TogoVar | |||||||
TSC22D4_chr7_100461519_100484214 | 100473754 | G | GTA | intron_variant | MODIFIER | HG02717.hp2 HG04184.hp2 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 a0001c0001t0001g0186 a0001c0001t0001g0208 |
3 | 378 | 0.0079 | 2 | c.929 others(17): Show |
TSC22D4 | ENSG00000166925.9 | transcript | ENST00000300181.7 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
TSC22D4_chr7_100461519_100484214 | 100478322 | G | GGA | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00741.hp1 others(29): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0002t0002a0002c0004t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0046 others(18): Show |
32 | 378 | 0.0847 | 2 | c.-26 others(17): Show |
TSC22D4 | ENSG00000166925.9 | transcript | ENST00000300181.7 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
TSC22D4_chr7_100461519_100484214 | 100478350 | A | AGT | intron_variant | MODIFIER | HG00544.hp2 HG00735.hp1 HG01070.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0044 others(19): Show |
27 | 378 | 0.0714 | 2 | c.-26 others(17): Show |
TSC22D4 | ENSG00000166925.9 | transcript | ENST00000300181.7 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
TSC22D4_chr7_100461519_100484214 | 100480240 | T | TAA | upstream_gene_variant | MODIFIER | HG00733.hp1 HG02809.hp2 HG02818.hp2 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0052 a0001c0002t0002g0060 a0001c0002t0002g0071 others(7): Show |
10 | 378 | 0.0265 | 2 | c.-17 others(13): Show |
TSC22D4 | ENSG00000166925.9 | transcript | ENST00000300181.7 | protein_coding | 1027 | chr7 | TogoVar | |||||||
TSC22D4_chr7_100461519_100484214 | 100482409 | G | GTT | upstream_gene_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG01952.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0028 others(5): Show |
9 | 378 | 0.0238 | 2 | c.-38 others(13): Show |
TSC22D4 | ENSG00000166925.9 | transcript | ENST00000300181.7 | protein_coding | 3196 | chr7 | TogoVar | |||||||
TSC2_chr16_2042985_2094491 | 2059047 | C | CTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(140): Show |
a0001a0005a0008others(5): Show | a0001c0001a0001c0002a0001c0014others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(33): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 others(134): Show |
143 | 318 | 0.4497 | 2 | c.975 others(17): Show |
TSC2 | ENSG00000103197.19 | transcript | ENST00000219476.9 | protein_coding | 10/41 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TSC2_chr16_2042985_2094491 | 2059509 | G | GTT | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG01192.hp1 others(12): Show |
a0001a0010 | a0001c0001a0001c0002a0010c0031 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0154 a0001c0001t0001g0221 others(11): Show |
15 | 318 | 0.0472 | 2 | c.975 others(17): Show |
TSC2 | ENSG00000103197.19 | transcript | ENST00000219476.9 | protein_coding | 10/41 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |