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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SORCS2_chr4_7187538_7747827 | 7746329 | CGTCTCCT others(30): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0033 | a0001c0033t0062 | a0001c0033t0062g0160 | 1 | 168 | 0.0060 | -37 | c.*60 others(48): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 3503 | chr4 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16132382 | GAAAGAAA others(30): Show |
G | intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0101 | 1 | 215 | 0.0047 | -37 | c.778 others(56): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 6/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16132386 | GAAAGAAA others(30): Show |
G | intron_variant | MODIFIER | HG01943.hp2 NA18990.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0076 a0001c0001t0003g0171 |
2 | 211 | 0.0095 | -37 | c.778 others(56): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 6/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16132390 | GAAAGAAA others(30): Show |
G | intron_variant | MODIFIER | HG02300.hp1 NA18964.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0088 a0001c0001t0004g0093 |
2 | 200 | 0.0100 | -37 | c.778 others(56): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 6/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16132398 | GAAAAAAG others(30): Show |
G | intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 154 | 0.0065 | -37 | c.778 others(56): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 6/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16132415 | AAGAAAGA others(30): Show |
A | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0039 | 1 | 215 | 0.0047 | -37 | c.778 others(56): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 6/15 | chr11 | TogoVar | |||||||
SP100_chr2_230411201_230550606 | 230510473 | CTTTTTTT others(30): Show |
C | intron_variant | MODIFIER | NA18522.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0269 | 1 | 2 | 0.5000 | -37 | c.205 others(54): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPA17_chr11_124668904_124702518 | 124702212 | TTATTCCT others(30): Show |
T | downstream_gene_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0065 | 1 | 354 | 0.0028 | -37 | c.*77 others(48): Show |
SPA17 | ENSG00000064199.7 | transcript | ENST00000227135.7 | protein_coding | 4695 | chr11 | TogoVar | |||||||
SPACA3_chr17_32986847_33002877 | 33000025 | TGGCATTT others(30): Show |
T | downstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 468 | 0.0021 | -37 | c.*22 others(48): Show |
SPACA3 | ENSG00000141316.13 | transcript | ENST00000269053.8 | protein_coding | 2149 | chr17 | TogoVar | |||||||
SPACA6_chr19_51688330_51710190 | 51704722 | GTCCAGGT others(30): Show |
G | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 414 | 0.0024 | -37 | c.941 others(52): Show |
SPACA6 | ENSG00000182310.16 | transcript | ENST00000637797.2 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPACA7_chr13_112371355_112439689 | 112383116 | AAAAGAAA others(30): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 a0001c0001t0001g0290 |
2 | 283 | 0.0071 | -37 | c.94+ others(52): Show |
SPACA7 | ENSG00000153498.12 | transcript | ENST00000283550.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPIB_chr19_50413938_50436314 | 50434965 | GTGGGGGC others(30): Show |
G | downstream_gene_variant | MODIFIER | HG02280.hp1 HG02895.hp1 HG02970.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0009a0002c0001t0003 | a0001c0002t0009g0013 a0001c0002t0009g0032 a0002c0001t0003g0123 |
4 | 382 | 0.0105 | -37 | c.*66 others(48): Show |
SPIB | ENSG00000269404.7 | transcript | ENST00000595883.6 | protein_coding | 3652 | chr19 | TogoVar | |||||||
SPIB_chr19_50413938_50436314 | 50434981 | TTGGGTCT others(30): Show |
T | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG02055.hp1 others(22): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0008others(1): Show | a0001c0002t0004a0001c0002t0014a0001c0003t0001others(4): Show | a0001c0002t0004g0025 a0001c0002t0004g0029 a0001c0002t0004g0034 others(12): Show |
25 | 333 | 0.0751 | -37 | c.*66 others(48): Show |
SPIB | ENSG00000269404.7 | transcript | ENST00000595883.6 | protein_coding | 3668 | chr19 | TogoVar | |||||||
SPPL2B_chr19_2323684_2360095 | 2347360 | ACACACAC others(30): Show |
A | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0010 | a0001c0010t0010 | a0001c0010t0010g0144 | 1 | 409 | 0.0024 | -37 | c.135 others(56): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPPL2B_chr19_2323684_2360095 | 2347767 | ACACACAC others(30): Show |
A | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053 | 2 | 409 | 0.0049 | -37 | c.135 others(56): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPPL3_chr12_120757510_120909358 | 120852395 | TATATGAA others(30): Show |
T | intron_variant | MODIFIER | HG03239.hp1 NA19080.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0294 a0001c0001t0009g0208 |
2 | 318 | 0.0063 | -37 | c.24- others(54): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120852410 | CATATATA others(30): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG01099.hp2 HG02109.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0005a0001c0002t0005others(4): Show | a0001c0001t0004g0127 a0001c0001t0005g0080 a0001c0002t0005g0072 others(32): Show |
35 | 307 | 0.1140 | -37 | c.24- others(54): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
SRGAP2_chr1_206198541_206469436 | 206372947 | CTTTCTTT others(30): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02109.hp1 NA19030.hp1 |
a0001 | a0001c0006 | a0001c0006t0009a0001c0006t0030 | a0001c0006t0009g0161 a0001c0006t0009g0163 a0001c0006t0030g0162 |
3 | 174 | 0.0172 | -37 | c.424 others(56): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 4/22 | chr1 | TogoVar | |||||||
SRGAP2_chr1_206198541_206469436 | 206372956 | TTTTCTTT others(30): Show |
T | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0140 | 1 | 152 | 0.0066 | -37 | c.424 others(56): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SS18L1_chr20_62138769_62187514 | 62148348 | CGGTCAGG others(30): Show |
C | intron_variant | MODIFIER | HG02132.hp2 NA19011.hp2 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0001t0001g0112 |
3 | 314 | 0.0096 | -37 | c.69+ others(52): Show |
SS18L1 | ENSG00000184402.15 | transcript | ENST00000331758.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SSX3_chrX_48341427_48361703 | 48343913 | GAACTTAA others(30): Show |
G | downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 329 | 0.0030 | -37 | c.*30 others(48): Show |
SSX3 | ENSG00000165584.16 | transcript | ENST00000298396.7 | protein_coding | 2513 | chrX | TogoVar | |||||||
ST6GAL1_chr3_186925526_187083553 | 186984741 | TCCCTCCC others(30): Show |
T | intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0255 | 1 | 360 | 0.0028 | -37 | c.-18 others(58): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ST8SIA1_chr12_22188391_22339707 | 22320983 | GAAAGAAA others(30): Show |
G | intron_variant | MODIFIER | HG03239.hp2 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0087a0001c0001t0161 | a0001c0001t0087g0017 a0001c0001t0161g0076 |
2 | 279 | 0.0072 | -37 | c.236 others(56): Show |
ST8SIA1 | ENSG00000111728.11 | transcript | ENST00000396037.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
STARD13_chr13_33098137_33290755 | 33240671 | TATCCTTA others(30): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02559.hp1 HG02896.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(6): Show | a0001c0001t0001g0147 a0001c0001t0004g0044 a0001c0002t0002g0072 others(6): Show |
9 | 251 | 0.0359 | -37 | c.169 others(56): Show |
STARD13 | ENSG00000133121.21 | transcript | ENST00000336934.10 | protein_coding | 1/13 | chr13 | TogoVar | |||||||
STEAP1B_chr7_22414444_22505188 | 22456630 | ATAGATAA others(30): Show |
A | intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 382 | 0.0026 | -37 | c.762 others(56): Show |
STEAP1B | ENSG00000105889.16 | transcript | ENST00000678116.1 | protein_coding | 4/4 | chr7 | TogoVar | |||||||
STK33_chr11_8386870_8599228 | 8553167 | AATATATA others(30): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG01891.hp1 HG02155.hp1 others(32): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0004a0001c0001t0009a0001c0001t0013others(5): Show | a0001c0001t0004g0001 a0001c0001t0004g0122 a0001c0001t0004g0127 others(31): Show |
35 | 251 | 0.1394 | -37 | c.-46 others(58): Show |
STK33 | ENSG00000130413.16 | transcript | ENST00000687296.1 | protein_coding | 1/15 | chr11 | TogoVar | |||||||
STK3_chr8_98449633_98830688 | 98825857 | CGCCCCGC others(30): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00597.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0087 a0001c0001t0001g0095 a0001c0001t0001g0116 others(15): Show |
18 | 168 | 0.1071 | -37 | c.-35 others(46): Show |
STK3 | ENSG00000104375.17 | transcript | ENST00000419617.7 | protein_coding | 170 | chr8 | TogoVar | |||||||
STK4_chr20_44961512_45085021 | 44966383 | CCCACCGC others(30): Show |
C | upstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0225 | 1 | 326 | 0.0031 | -37 | c.-18 others(46): Show |
STK4 | ENSG00000101109.13 | transcript | ENST00000372806.8 | protein_coding | 128 | chr20 | TogoVar | |||||||
STX17_chr9_99901654_99979534 | 99967336 | TATTTGGA others(30): Show |
T | intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0169 | 1 | 292 | 0.0034 | -37 | c.583 others(52): Show |
STX17 | ENSG00000136874.11 | transcript | ENST00000259400.11 | protein_coding | 6/7 | chr9 | TogoVar | |||||||
STYX_chr14_52725166_52779989 | 52758916 | ATGGACTT others(30): Show |
A | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 368 | 0.0027 | -37 | c.432 others(52): Show |
STYX | ENSG00000198252.12 | transcript | ENST00000354586.5 | protein_coding | 8/10 | chr14 | TogoVar | |||||||
SUCO_chr1_172528150_172616833 | 172571703 | GCCCCGCC others(30): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG02451.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0114 a0001c0001t0008g0213 |
2 | 338 | 0.0059 | -37 | c.104 others(55): Show |
SUCO | ENSG00000094975.15 | transcript | ENST00000263688.4 | protein_coding | 9/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SULF2_chr20_47652406_47790481 | 47745391 | AAAAAAAA others(30): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 a0001c0001t0001g0345 |
2 | 359 | 0.0056 | -37 | c.176 others(54): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 2/20 | chr20 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47745393 | AAAAAAAA others(30): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG02451.hp1 HG02723.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0138 a0001c0001t0001g0324 a0001c0001t0001g0325 others(8): Show |
11 | 347 | 0.0317 | -37 | c.176 others(54): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 2/20 | chr20 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47745395 | AAAAAAAA others(30): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02572.hp2 HG03041.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0005a0003c0022 | a0001c0001t0001a0003c0005t0007a0003c0022t0001 | a0001c0001t0001g0225 a0001c0001t0001g0263 a0001c0001t0001g0311 others(2): Show |
5 | 352 | 0.0142 | -37 | c.176 others(54): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 2/20 | chr20 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47745397 | AAAAAAAA others(30): Show |
A | intron_variant | MODIFIER | HG02015.hp2 HG02155.hp1 HG02698.hp1 others(10): Show |
a0001a0011 | a0001c0001a0001c0002a0011c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0101 a0001c0001t0001g0155 a0001c0001t0001g0171 others(10): Show |
13 | 356 | 0.0365 | -37 | c.176 others(54): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 2/20 | chr20 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47745399 | AAAAAAAA others(30): Show |
A | intron_variant | MODIFIER | HG02896.hp2 HG03927.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0056 a0001c0002t0001g0334 |
2 | 358 | 0.0056 | -37 | c.176 others(54): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 2/20 | chr20 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47745401 | AAAAAAAA others(30): Show |
A | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0341 | 1 | 356 | 0.0028 | -37 | c.176 others(54): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 2/20 | chr20 | TogoVar | |||||||
SULT4A1_chr22_43819509_43867513 | 43822748 | TGTGTGTG others(30): Show |
T | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01099.hp2 HG01106.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0019 a0001c0001t0001g0170 a0001c0001t0016g0179 others(1): Show |
4 | 384 | 0.0104 | -37 | c.*32 others(48): Show |
SULT4A1 | ENSG00000130540.14 | transcript | ENST00000330884.9 | protein_coding | 1760 | chr22 | TogoVar | |||||||
SUN1_chr7_827476_879934 | 879711 | TTAGAAAG others(30): Show |
T | downstream_gene_variant | MODIFIER | NA18943.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0006 | 1 | 416 | 0.0024 | -37 | c.*63 others(48): Show |
SUN1 | ENSG00000164828.18 | transcript | ENST00000401592.6 | protein_coding | 4778 | chr7 | TogoVar | |||||||
SUPT6H_chr17_28657205_28707679 | 28659220 | AGGCAGAG others(30): Show |
A | upstream_gene_variant | MODIFIER | HG02717.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0028 |
2 | 232 | 0.0086 | -37 | c.-31 others(48): Show |
SUPT6H | ENSG00000109111.15 | transcript | ENST00000314616.11 | protein_coding | 2984 | chr17 | TogoVar | |||||||
SVIL_chr10_29452338_29639971 | 29529889 | AGCTGGGC others(30): Show |
A | intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0117 | a0001c0117t0001 | a0001c0117t0001g0240 | 1 | 288 | 0.0035 | -37 | c.210 others(52): Show |
SVIL | ENSG00000197321.16 | transcript | ENST00000355867.9 | protein_coding | 11/37 | chr10 | TogoVar | |||||||
SWAP70_chr11_9659077_9757993 | 9671220 | AATATATA others(30): Show |
A | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0094 | 1 | 292 | 0.0034 | -37 | c.99+ others(52): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SWI5_chr9_128271276_128293989 | 128291978 | CAAAAAAA others(30): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG01109.hp2 HG02109.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0047 a0001c0001t0001g0185 a0001c0001t0001g0186 others(9): Show |
14 | 16 | 0.8750 | -37 | c.*32 others(48): Show |
SWI5 | ENSG00000175854.15 | transcript | ENST00000418976.3 | protein_coding | 2990 | chr9 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32620925 | GGCCAGGC others(30): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG01175.hp1 HG01496.hp2 others(34): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0036 a0001c0001t0002g0007 a0001c0001t0003g0039 others(34): Show |
37 | 184 | 0.2011 | -37 | c.712 others(56): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32780912 | GCTTCCTT others(30): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02257.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(12): Show | a0001c0001t0001g0097 a0001c0001t0002g0118 a0001c0001t0014g0099 others(12): Show |
15 | 165 | 0.0909 | -37 | c.711 others(56): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYNE2_chr14_63848004_64231433 | 64138912 | TTGTGTGT others(30): Show |
T | intron_variant | MODIFIER | HG03492.hp1 | a0054 | a0054c0067 | a0054c0067t0003 | a0054c0067t0003g0107 | 1 | 98 | 0.0102 | -37 | c.148 others(56): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 79/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64151437 | AAAAAAAA others(30): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01516.hp1 HG04184.hp2 |
a0001a0003 | a0001c0018a0003c0002 | a0001c0018t0001a0003c0002t0001 | a0001c0018t0001g0065 a0003c0002t0001g0005 a0003c0002t0001g0006 |
3 | 148 | 0.0203 | -37 | c.156 others(58): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 84/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYT1_chr12_78859774_79457008 | 78973925 | AAAAAAAA others(30): Show |
A | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0034 | 1 | 60 | 0.0167 | -37 | c.-21 others(56): Show |
SYT1 | ENSG00000067715.15 | transcript | ENST00000261205.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SYT3_chr19_50616977_50644881 | 50619912 | ATTATTAT others(30): Show |
A | downstream_gene_variant | MODIFIER | NA18948.hp2 NA18952.hp2 NA19054.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(1): Show |
4 | 386 | 0.0104 | -37 | c.*25 others(48): Show |
SYT3 | ENSG00000213023.11 | transcript | ENST00000600079.6 | protein_coding | 2064 | chr19 | TogoVar | |||||||
SYT3_chr19_50616977_50644881 | 50629611 | AGGAGTCC others(30): Show |
A | intron_variant | MODIFIER | HG02004.hp2 NA18952.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0057 a0001c0002t0002g0086 |
2 | 346 | 0.0058 | -37 | c.106 others(54): Show |
SYT3 | ENSG00000213023.11 | transcript | ENST00000600079.6 | protein_coding | 5/10 | chr19 | TogoVar |