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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SWT1_chr1_185152167_185296781 | 185221050 | GACACAC | G | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(137): Show |
a0002a0003a0005others(3): Show | a0002c0002a0002c0004a0003c0003others(6): Show | a0002c0002t0001a0002c0004t0001a0003c0003t0001others(9): Show | a0002c0002t0001g0002 a0002c0002t0001g0136 a0002c0002t0001g0137 others(136): Show |
140 | 326 | 0.4295 | -6 | c.212 others(23): Show |
SWT1 | ENSG00000116668.13 | transcript | ENST00000367500.9 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SWT1_chr1_185152167_185296781 | 185228167 | GTGTATA | G | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00741.hp1 others(73): Show |
a0002a0003a0005others(3): Show | a0002c0002a0002c0004a0003c0003others(6): Show | a0002c0002t0001a0002c0004t0001a0003c0003t0001others(6): Show | a0002c0002t0001g0002 a0002c0002t0001g0138 a0002c0002t0001g0151 others(72): Show |
76 | 326 | 0.2331 | -6 | c.231 others(25): Show |
SWT1 | ENSG00000116668.13 | transcript | ENST00000367500.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SWT1_chr1_185152167_185296781 | 185228184 | TATATAC | T | intron_variant | MODIFIER | HG01099.hp2 HG02258.hp2 HG02622.hp1 others(8): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0004 | a0003c0003t0001g0235 a0003c0003t0001g0236 a0003c0003t0001g0237 others(8): Show |
11 | 326 | 0.0337 | -6 | c.231 others(25): Show |
SWT1 | ENSG00000116668.13 | transcript | ENST00000367500.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SWT1_chr1_185152167_185296781 | 185228190 | CATATAT | C | intron_variant | MODIFIER | HG02572.hp2 HG02970.hp2 HG03540.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0260 |
3 | 326 | 0.0092 | -6 | c.231 others(25): Show |
SWT1 | ENSG00000116668.13 | transcript | ENST00000367500.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SYAP1_chrX_16714612_16770340 | 16742143 | GTTTTTT | G | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0025 | a0001c0001t0007g0130 a0001c0001t0025g0192 |
2 | 290 | 0.0069 | -6 | c.435 others(21): Show |
SYAP1 | ENSG00000169895.6 | transcript | ENST00000380155.4 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SYAP1_chrX_16714612_16770340 | 16769936 | CTCTTGG | C | downstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0240 | 1 | 290 | 0.0035 | -6 | c.*95 others(17): Show |
SYAP1 | ENSG00000169895.6 | transcript | ENST00000380155.4 | protein_coding | 4597 | chrX | TogoVar | |||||||
SYBU_chr8_109568978_109649822 | 109576042 | TAAAAAA | T | intron_variant | MODIFIER | HG00733.hp1 HG01167.hp2 HG01884.hp1 others(6): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0012 | a0001c0001t0001a0001c0002t0001a0006c0012t0001 | a0001c0001t0001g0037 a0001c0001t0001g0149 a0001c0001t0001g0152 others(6): Show |
9 | 324 | 0.0278 | -6 | c.885 others(19): Show |
SYBU | ENSG00000147642.17 | transcript | ENST00000276646.14 | protein_coding | 6/6 | chr8 | TogoVar | |||||||
SYBU_chr8_109568978_109649822 | 109607808 | TCACACA | T | intron_variant | MODIFIER | HG02109.hp2 HG02572.hp1 HG03130.hp1 others(1): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0009 | a0001c0001t0004a0001c0002t0001a0007c0009t0001 | a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0002t0001g0187 others(1): Show |
4 | 324 | 0.0124 | -6 | c.427 others(25): Show |
SYBU | ENSG00000147642.17 | transcript | ENST00000276646.14 | protein_coding | 3/6 | chr8 | TogoVar | |||||||
SYBU_chr8_109568978_109649822 | 109623031 | GCACACA | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(122): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0160 others(114): Show |
125 | 324 | 0.3858 | -6 | c.230 others(23): Show |
SYBU | ENSG00000147642.17 | transcript | ENST00000276646.14 | protein_coding | 2/6 | chr8 | TogoVar | |||||||
SYCE1L_chr16_77194408_77218215 | 77206826 | GATGTAT | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(140): Show |
a0002a0003a0004others(2): Show | a0002c0003a0002c0015a0003c0004others(3): Show | a0002c0003t0001a0002c0015t0001a0003c0004t0001others(3): Show | a0002c0003t0001g0008 a0002c0003t0001g0011 a0002c0003t0001g0012 others(78): Show |
143 | 442 | 0.3235 | -6 | c.121 others(21): Show |
SYCE1L | ENSG00000205078.6 | transcript | ENST00000378644.5 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SYCE1_chr10_133549847_133570583 | 133562261 | ATGTGTG | A | intron_variant | MODIFIER | HG00735.hp1 HG01069.hp1 HG01071.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0036 a0001c0001t0001g0078 others(2): Show |
8 | 384 | 0.0208 | -6 | c.74- others(21): Show |
SYCE1 | ENSG00000171772.17 | transcript | ENST00000343131.7 | protein_coding | 1/12 | chr10 | TogoVar | |||||||
SYCE1_chr10_133549847_133570583 | 133562968 | CAGGCCA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(250): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0005others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 others(54): Show |
253 | 384 | 0.6589 | -6 | c.73+ others(21): Show |
SYCE1 | ENSG00000171772.17 | transcript | ENST00000343131.7 | protein_coding | 1/12 | chr10 | TogoVar | |||||||
SYCP1_chr1_114849863_115000370 | 114909495 | TACACAC | T | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02109.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0006t0003others(1): Show | a0001c0001t0001g0060 a0001c0001t0002g0200 a0001c0001t0002g0289 others(4): Show |
7 | 312 | 0.0224 | -6 | c.132 others(23): Show |
SYCP1 | ENSG00000198765.12 | transcript | ENST00000369522.8 | protein_coding | 16/31 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SYCP1_chr1_114849863_115000370 | 114976578 | AAGATAC | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00544.hp2 others(125): Show |
a0001a0005a0008 | a0001c0001a0001c0005a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0001others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(125): Show |
128 | 312 | 0.4103 | -6 | c.232 others(23): Show |
SYCP1 | ENSG00000198765.12 | transcript | ENST00000369522.8 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SYCP2L_chr6_10882052_10979309 | 10891609 | CTCTCTG | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00621.hp2 others(47): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0011others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(10): Show | a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0053 others(44): Show |
50 | 354 | 0.1412 | -6 | c.78+ others(17): Show |
SYCP2L | ENSG00000153157.14 | transcript | ENST00000283141.11 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYCP2L_chr6_10882052_10979309 | 10891611 | CTCTGTG | C | intron_variant | MODIFIER | HG02145.hp2 HG02922.hp1 HG03486.hp1 |
a0002 | a0002c0003a0002c0007 | a0002c0003t0002a0002c0007t0001 | a0002c0003t0002g0324 a0002c0007t0001g0345 a0002c0007t0001g0346 |
3 | 354 | 0.0085 | -6 | c.78+ others(17): Show |
SYCP2L | ENSG00000153157.14 | transcript | ENST00000283141.11 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYCP2L_chr6_10882052_10979309 | 10891613 | CTGTGTG | C | intron_variant | MODIFIER | HG02523.hp1 HG02896.hp2 HG03579.hp2 |
a0001a0002a0007 | a0001c0013a0002c0024a0007c0010 | a0001c0013t0001a0002c0024t0002a0007c0010t0001 | a0001c0013t0001g0038 a0002c0024t0002g0248 a0007c0010t0001g0300 |
3 | 354 | 0.0085 | -6 | c.78+ others(17): Show |
SYCP2L | ENSG00000153157.14 | transcript | ENST00000283141.11 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYCP2L_chr6_10882052_10979309 | 10945769 | TAAAAAA | T | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00621.hp1 others(31): Show |
a0003a0004a0007others(2): Show | a0003c0004a0003c0006a0004c0005others(5): Show | a0003c0004t0001a0003c0006t0001a0004c0005t0001others(5): Show | a0003c0004t0001g0004 a0003c0004t0001g0022 a0003c0004t0001g0036 others(30): Show |
34 | 354 | 0.0961 | -6 | c.195 others(25): Show |
SYCP2L | ENSG00000153157.14 | transcript | ENST00000283141.11 | protein_coding | 23/29 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYCP2L_chr6_10882052_10979309 | 10978278 | AATATAT | A | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00621.hp2 HG00733.hp1 others(45): Show |
a0001a0002a0012 | a0001c0001a0001c0002a0001c0018others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0018t0001others(2): Show | a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0054 others(45): Show |
48 | 354 | 0.1356 | -6 | c.*43 others(17): Show |
SYCP2L | ENSG00000153157.14 | transcript | ENST00000283141.11 | protein_coding | 3970 | chr6 | TogoVar | |||||||
SYCP2_chr20_59858571_59938637 | 59876369 | CAAAAAA | C | intron_variant | MODIFIER | HG01192.hp2 HG01256.hp1 HG01258.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0004c0009t0003a0004c0009t0009 | a0001c0001t0001g0054 a0001c0001t0001g0065 a0001c0001t0001g0072 others(2): Show |
6 | 276 | 0.0217 | -6 | c.315 others(23): Show |
SYCP2 | ENSG00000196074.13 | transcript | ENST00000357552.8 | protein_coding | 33/44 | chr20 | TogoVar | |||||||
SYCP2_chr20_59858571_59938637 | 59879822 | AATATAT | A | intron_variant | MODIFIER | HG01071.hp1 HG02129.hp1 HG03704.hp1 others(3): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0052 a0001c0001t0001g0144 a0001c0001t0001g0153 others(3): Show |
6 | 276 | 0.0217 | -6 | c.294 others(23): Show |
SYCP2 | ENSG00000196074.13 | transcript | ENST00000357552.8 | protein_coding | 31/44 | chr20 | TogoVar | |||||||
SYCP2_chr20_59858571_59938637 | 59885654 | ACGCGCG | A | intron_variant | MODIFIER | HG01192.hp2 HG01256.hp1 HG01258.hp1 |
a0004 | a0004c0009 | a0004c0009t0003a0004c0009t0009 | a0004c0009t0003g0008 a0004c0009t0009g0268 |
3 | 276 | 0.0109 | -6 | c.252 others(23): Show |
SYCP2 | ENSG00000196074.13 | transcript | ENST00000357552.8 | protein_coding | 26/44 | chr20 | TogoVar | |||||||
SYCP2_chr20_59858571_59938637 | 59890826 | AAAATTT | A | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02145.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002 | a0001c0004t0001g0033 a0001c0004t0002g0028 a0001c0004t0002g0029 others(2): Show |
5 | 276 | 0.0181 | -6 | c.236 others(25): Show |
SYCP2 | ENSG00000196074.13 | transcript | ENST00000357552.8 | protein_coding | 24/44 | chr20 | TogoVar | |||||||
SYCP3_chr12_101723648_101744462 | 101735891 | ACGGGGG | A | intron_variant | MODIFIER | HG02486.hp1 HG02723.hp1 HG03041.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0176 a0001c0001t0005g0177 a0001c0001t0005g0178 others(1): Show |
4 | 426 | 0.0094 | -6 | c.236 others(21): Show |
SYCP3 | ENSG00000139351.15 | transcript | ENST00000392924.2 | protein_coding | 4/8 | chr12 | TogoVar | |||||||
SYCP3_chr12_101723648_101744462 | 101736708 | ATGTGTG | A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00609.hp1 others(161): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0008 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 others(123): Show |
164 | 426 | 0.3850 | -6 | c.235 others(21): Show |
SYCP3 | ENSG00000139351.15 | transcript | ENST00000392924.2 | protein_coding | 4/8 | chr12 | TogoVar | |||||||
SYCP3_chr12_101723648_101744462 | 101741912 | ACTCAGT | A | upstream_gene_variant | MODIFIER | HG02165.hp1 NA18944.hp1 NA18945.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0052 a0001c0001t0002g0054 others(2): Show |
22 | 426 | 0.0516 | -6 | c.-25 others(17): Show |
SYCP3 | ENSG00000139351.15 | transcript | ENST00000392924.2 | protein_coding | 2451 | chr12 | TogoVar | |||||||
SYDE2_chr1_85151889_85206016 | 85155026 | GAAAAGA | G | downstream_gene_variant | MODIFIER | HG02717.hp2 HG03225.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0017 | a0001c0001t0001a0001c0017t0001 | a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0017t0001g0059 |
3 | 398 | 0.0075 | -6 | c.*37 others(17): Show |
SYDE2 | ENSG00000097096.10 | transcript | ENST00000341460.6 | protein_coding | 1862 | chr1 | TogoVar | |||||||
SYDE2_chr1_85151889_85206016 | 85160869 | CTTAGAG | C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02622.hp2 |
a0009 | a0009c0013 | a0009c0013t0007 | a0009c0013t0007g0043 a0009c0013t0007g0330 |
3 | 398 | 0.0075 | -6 | c.308 others(25): Show |
SYDE2 | ENSG00000097096.10 | transcript | ENST00000341460.6 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
SYDE2_chr1_85151889_85206016 | 85163445 | CTATATA | C | intron_variant | MODIFIER | HG02145.hp2 HG02486.hp2 HG02809.hp2 others(2): Show |
a0005a0008a0026 | a0005c0005a0008c0006a0026c0036 | a0005c0005t0004a0008c0006t0004a0026c0036t0004 | a0005c0005t0004g0161 a0008c0006t0004g0265 a0008c0006t0004g0266 others(2): Show |
5 | 398 | 0.0126 | -6 | c.308 others(25): Show |
SYDE2 | ENSG00000097096.10 | transcript | ENST00000341460.6 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
SYK_chr9_90796819_90903549 | 90812778 | TGAGAGA | T | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00558.hp2 others(88): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0039 a0001c0001t0001g0073 a0001c0001t0001g0075 others(88): Show |
91 | 376 | 0.2420 | -6 | c.-42 others(25): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SYK_chr9_90796819_90903549 | 90814861 | CACACAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(122): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0055 a0001c0001t0001g0184 a0001c0001t0001g0186 others(121): Show |
125 | 376 | 0.3325 | -6 | c.-42 others(25): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SYK_chr9_90796819_90903549 | 90842756 | AGAGTGT | A | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG00673.hp2 others(53): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(35): Show | a0001c0001t0001g0371 a0001c0001t0001g0373 a0001c0001t0002g0079 others(53): Show |
56 | 376 | 0.1489 | -6 | c.-41 others(23): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SYK_chr9_90796819_90903549 | 90884510 | TACATAC | T | intron_variant | MODIFIER | HG00597.hp2 HG02135.hp1 HG02523.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0002a0001c0001t0003a0001c0001t0016others(5): Show | a0001c0001t0002g0030 a0001c0001t0002g0103 a0001c0001t0002g0157 others(17): Show |
20 | 376 | 0.0532 | -6 | c.158 others(25): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SYK_chr9_90796819_90903549 | 90884542 | TACATAC | T | intron_variant | MODIFIER | HG00673.hp2 HG01243.hp1 HG01255.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(2): Show | a0001c0001t0002g0165 a0001c0001t0002g0175 a0001c0001t0002g0181 others(8): Show |
11 | 376 | 0.0293 | -6 | c.158 others(25): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SYK_chr9_90796819_90903549 | 90901314 | ACACTCT | A | downstream_gene_variant | MODIFIER | HG02559.hp1 HG02572.hp1 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0050 a0001c0001t0005g0084 a0001c0001t0005g0347 |
3 | 376 | 0.0080 | -6 | c.*57 others(17): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 2766 | chr9 | TogoVar | |||||||
SYK_chr9_90796819_90903549 | 90901316 | ACTCTCT | A | downstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp1 NA20300.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0010 | a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0001g0105 others(1): Show |
4 | 376 | 0.0106 | -6 | c.*57 others(17): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 2768 | chr9 | TogoVar | |||||||
SYMPK_chr19_45810410_45868147 | 45811743 | GTATTAT | G | downstream_gene_variant | MODIFIER | HG00438.hp1 HG01516.hp1 HG02055.hp2 others(21): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0006others(7): Show | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 others(20): Show |
24 | 392 | 0.0612 | -6 | c.*38 others(17): Show |
SYMPK | ENSG00000125755.19 | transcript | ENST00000245934.12 | protein_coding | 3666 | chr19 | TogoVar | |||||||
SYMPK_chr19_45810410_45868147 | 45817417 | CTTTTTT | C | intron_variant | MODIFIER | HG01256.hp1 HG01884.hp1 HG01978.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0257 a0001c0001t0004g0142 a0001c0001t0004g0185 others(12): Show |
15 | 392 | 0.0383 | -6 | c.308 others(23): Show |
SYMPK | ENSG00000125755.19 | transcript | ENST00000245934.12 | protein_coding | 23/26 | chr19 | TogoVar | |||||||
SYN1_chrX_47566901_47624857 | 47571110 | AGTGTGT | A | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG06807.hp2 |
a0001 | a0001c0003a0001c0018 | a0001c0003t0001a0001c0018t0001 | a0001c0003t0001g0012 a0001c0003t0001g0024 a0001c0018t0001g0156 |
3 | 282 | 0.0106 | -6 | c.*17 others(17): Show |
SYN1 | ENSG00000008056.14 | transcript | ENST00000295987.13 | protein_coding | 790 | chrX | TogoVar | |||||||
SYN1_chrX_47566901_47624857 | 47571212 | GGTGTGT | G | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(99): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(11): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0043 others(97): Show |
102 | 282 | 0.3617 | -6 | c.*16 others(17): Show |
SYN1 | ENSG00000008056.14 | transcript | ENST00000295987.13 | protein_coding | 688 | chrX | TogoVar | |||||||
SYN1_chrX_47566901_47624857 | 47608279 | GAAGGAA | G | intron_variant | MODIFIER | HG00642.hp1 HG01081.hp2 HG02145.hp1 others(5): Show |
a0001a0003a0012 | a0001c0001a0001c0002a0003c0006others(1): Show | a0001c0001t0001a0001c0002t0001a0003c0006t0001others(1): Show | a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0207 others(5): Show |
8 | 282 | 0.0284 | -6 | c.378 others(23): Show |
SYN1 | ENSG00000008056.14 | transcript | ENST00000295987.13 | protein_coding | 1/12 | chrX | TogoVar | |||||||
SYN1_chrX_47566901_47624857 | 47609382 | GGGCTGA | G | intron_variant | MODIFIER | NA19030.hp2 | a0012 | a0012c0009 | a0012c0009t0001 | a0012c0009t0001g0044 | 1 | 282 | 0.0036 | -6 | c.378 others(23): Show |
SYN1 | ENSG00000008056.14 | transcript | ENST00000295987.13 | protein_coding | 1/12 | chrX | TogoVar | |||||||
SYN2_chr3_11999388_12197032 | 12003779 | GGTGTGT | G | upstream_gene_variant | MODIFIER | HG02280.hp2 HG02886.hp2 HG02970.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0002 a0001c0001t0002g0052 a0002c0002t0001g0100 |
3 | 264 | 0.0114 | -6 | c.-77 others(15): Show |
SYN2 | ENSG00000157152.17 | transcript | ENST00000621198.5 | protein_coding | 608 | chr3 | TogoVar | |||||||
SYN2_chr3_11999388_12197032 | 12050711 | CTTTTTT | C | intron_variant | MODIFIER | HG02055.hp1 HG03195.hp2 NA19002.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0006a0002c0002t0001 | a0001c0001t0002g0224 a0001c0001t0002g0242 a0001c0001t0006g0172 others(2): Show |
5 | 264 | 0.0189 | -6 | c.377 others(25): Show |
SYN2 | ENSG00000157152.17 | transcript | ENST00000621198.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYN2_chr3_11999388_12197032 | 12085352 | TACACAC | T | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG01123.hp2 others(49): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0002a0001c0001t0003a0002c0002t0001others(5): Show | a0001c0001t0002g0002 a0001c0001t0002g0048 a0001c0001t0002g0054 others(48): Show |
52 | 264 | 0.1970 | -6 | c.378 others(25): Show |
SYN2 | ENSG00000157152.17 | transcript | ENST00000621198.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYN2_chr3_11999388_12197032 | 12131982 | TTTTTTC | T | intron_variant | MODIFIER | HG01243.hp1 HG01978.hp1 HG02004.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 others(18): Show |
21 | 264 | 0.0796 | -6 | c.378 others(23): Show |
SYN2 | ENSG00000157152.17 | transcript | ENST00000621198.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 32569537 | ATCTCTC | A | intron_variant | MODIFIER | HG02970.hp2 HG03041.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0039a0002c0002t0004 | a0001c0001t0039g0144 a0002c0002t0004g0140 |
2 | 184 | 0.0109 | -6 | c.774 others(25): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 7/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32569567 | CTCTCTA | C | intron_variant | MODIFIER | HG02559.hp1 HG03098.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0018a0002c0002t0023 | a0001c0001t0018g0146 a0002c0002t0023g0164 |
2 | 184 | 0.0109 | -6 | c.774 others(25): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 7/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32586007 | TGTATAC | T | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0038 | a0001c0001t0020g0022 a0001c0001t0020g0156 a0001c0001t0038g0038 |
3 | 184 | 0.0163 | -6 | c.774 others(25): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 7/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32611284 | GTTTTTT | G | intron_variant | MODIFIER | HG01099.hp1 HG02572.hp1 HG02630.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010a0001c0001t0014others(4): Show | a0001c0001t0005g0158 a0001c0001t0010g0165 a0001c0001t0014g0060 others(4): Show |
7 | 184 | 0.0380 | -6 | c.712 others(25): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar |