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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
STPG2_chr4_97553872_98148476 | 98082433 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00544.hp1 others(38): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0002t0001a0003c0004t0001 | a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0138 others(38): Show |
41 | 48 | 0.8542 | -21 | c.612 others(40): Show |
STPG2 | ENSG00000163116.10 | transcript | ENST00000295268.4 | protein_coding | 5/10 | chr4 | TogoVar | |||||||
STRA6_chr15_74174466_74207787 | 74177563 | TGTACAGC others(14): Show |
T | downstream_gene_variant | MODIFIER | HG02615.hp1 | a0005 | a0005c0006 | a0005c0006t0010 | a0005c0006t0010g0058 | 1 | 358 | 0.0028 | -21 | c.*24 others(32): Show |
STRA6 | ENSG00000137868.19 | transcript | ENST00000395105.9 | protein_coding | 1902 | chr15 | TogoVar | |||||||
STRIP1_chr1_110029624_110059641 | 110030816 | TAATAATT others(14): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 404 | 0.0025 | -21 | c.-38 others(32): Show |
STRIP1 | ENSG00000143093.15 | transcript | ENST00000369795.8 | protein_coding | 3807 | chr1 | TogoVar | |||||||
STRIT1_chr3_155285227_155298683 | 155298092 | GAAAGAAA others(14): Show |
G | upstream_gene_variant | MODIFIER | NA18954.hp2 NA19005.hp1 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 442 | 0.0068 | -21 | c.-44 others(32): Show |
STRIT1 | ENSG00000240045.2 | transcript | ENST00000489090.2 | protein_coding | 4410 | chr3 | TogoVar | |||||||
STRN3_chr14_30888804_31031379 | 30902171 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG00609.hp1 NA18747.hp1 NA18985.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001a0002c0002t0003others(1): Show | a0001c0001t0003g0342 a0001c0001t0003g0352 a0002c0002t0001g0127 others(4): Show |
7 | 85 | 0.0824 | -21 | c.213 others(38): Show |
STRN3 | ENSG00000196792.12 | transcript | ENST00000357479.10 | protein_coding | 16/17 | chr14 | TogoVar | |||||||
STRN3_chr14_30888804_31031379 | 31013863 | TTTATTAT others(14): Show |
T | intron_variant | MODIFIER | HG02056.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0062 | 1 | 122 | 0.0082 | -21 | c.282 others(40): Show |
STRN3 | ENSG00000196792.12 | transcript | ENST00000357479.10 | protein_coding | 1/17 | chr14 | TogoVar | |||||||
STRN_chr2_36832698_36971536 | 36948081 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0040 | 1 | 30 | 0.0333 | -21 | c.234 others(40): Show |
STRN | ENSG00000115808.13 | transcript | ENST00000263918.9 | protein_coding | 1/17 | chr2 | TogoVar | |||||||
STS_chrX_7142712_7359641 | 7299006 | ATTTATAT others(14): Show |
A | intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0040 | 1 | 229 | 0.0044 | -21 | c.944 others(38): Show |
STS | ENSG00000101846.9 | transcript | ENST00000674429.1 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
STX1B_chr16_30984256_31015638 | 31013259 | TTTCTTCT others(14): Show |
T | upstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 233 | 0.0043 | -21 | c.-28 others(32): Show |
STX1B | ENSG00000099365.11 | transcript | ENST00000215095.11 | protein_coding | 2622 | chr16 | TogoVar | |||||||
STX1B_chr16_30984256_31015638 | 31013302 | TTCTTCTT others(14): Show |
T | upstream_gene_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 279 | 0.0036 | -21 | c.-29 others(32): Show |
STX1B | ENSG00000099365.11 | transcript | ENST00000215095.11 | protein_coding | 2665 | chr16 | TogoVar | |||||||
STX1B_chr16_30984256_31015638 | 31013308 | TTCTTCTT others(14): Show |
T | upstream_gene_variant | MODIFIER | HG02258.hp2 HG02895.hp1 HG02965.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0016 | a0001c0001t0002g0029 a0001c0001t0002g0097 a0001c0001t0006g0005 others(2): Show |
8 | 276 | 0.0290 | -21 | c.-29 others(32): Show |
STX1B | ENSG00000099365.11 | transcript | ENST00000215095.11 | protein_coding | 2671 | chr16 | TogoVar | |||||||
STX1B_chr16_30984256_31015638 | 31013346 | CCTCTTCT others(14): Show |
C | upstream_gene_variant | MODIFIER | HG01256.hp1 HG01258.hp1 |
a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0059 a0001c0002t0018g0060 |
2 | 255 | 0.0078 | -21 | c.-29 others(32): Show |
STX1B | ENSG00000099365.11 | transcript | ENST00000215095.11 | protein_coding | 2709 | chr16 | TogoVar | |||||||
STX6_chr1_180967725_181027870 | 181023047 | TCTCCTCT others(14): Show |
T | upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 348 | 0.0029 | -21 | c.-39 others(30): Show |
STX6 | ENSG00000135823.14 | transcript | ENST00000258301.6 | protein_coding | 178 | chr1 | TogoVar | |||||||
STX6_chr1_180967725_181027870 | 181023095 | CCTCTCTC others(14): Show |
C | upstream_gene_variant | MODIFIER | HG00621.hp2 HG01433.hp1 HG02040.hp2 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0016 a0001c0002t0002g0089 a0001c0002t0002g0099 others(7): Show |
10 | 294 | 0.0340 | -21 | c.-44 others(30): Show |
STX6 | ENSG00000135823.14 | transcript | ENST00000258301.6 | protein_coding | 226 | chr1 | TogoVar | |||||||
STX7_chr6_132440867_132518116 | 132515003 | GGGACTTA others(14): Show |
G | upstream_gene_variant | MODIFIER | HG02451.hp1 HG02630.hp2 HG02976.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0015a0001c0001t0016others(2): Show | a0001c0001t0014g0046 a0001c0001t0014g0047 a0001c0001t0014g0048 others(5): Show |
8 | 378 | 0.0212 | -21 | c.-20 others(32): Show |
STX7 | ENSG00000079950.14 | transcript | ENST00000367941.7 | protein_coding | 1888 | chr6 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9277364 | TAGTGAGG others(14): Show |
T | intron_variant | MODIFIER | HG04199.hp2 NA20905.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0158 a0001c0003t0002g0030 |
2 | 185 | 0.0108 | -21 | c.644 others(40): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
STXBP5_chr6_147199417_147395473 | 147372406 | CCTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00639.hp2 others(64): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0013others(11): Show | a0001c0001t0001g0221 a0001c0001t0001g0239 a0001c0001t0001g0246 others(64): Show |
67 | 85 | 0.7882 | -21 | c.308 others(40): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | TogoVar | |||||||
STYXL1_chr7_75991342_76053000 | 76005071 | GACGAGTT others(14): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0041 a0001c0002t0002g0056 |
2 | 354 | 0.0056 | -21 | c.599 others(36): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 6/8 | chr7 | TogoVar | |||||||
STYXL1_chr7_75991342_76053000 | 76024290 | ACCCACTT others(14): Show |
A | intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0042 | 1 | 354 | 0.0028 | -21 | c.166 others(38): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 3/8 | chr7 | TogoVar | |||||||
STYXL1_chr7_75991342_76053000 | 76046318 | GTGTGTGT others(14): Show |
G | intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0067 | 1 | 354 | 0.0028 | -21 | c.-5+ others(36): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102581180 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0067 a0001c0001t0011g0085 |
2 | 12 | 0.1667 | -21 | c.455 others(40): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SUGCT_chr7_40130005_40865763 | 40333661 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0005 | 1 | 8 | 0.1250 | -21 | c.816 others(40): Show |
SUGCT | ENSG00000175600.16 | transcript | ENST00000335693.9 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SUGP2_chr19_18985893_19038517 | 19005871 | ACACACAC others(14): Show |
A | intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0110 | 1 | 300 | 0.0033 | -21 | c.245 others(40): Show |
SUGP2 | ENSG00000064607.17 | transcript | ENST00000452918.7 | protein_coding | 6/10 | chr19 | TogoVar | |||||||
SULF1_chr8_69487847_69665912 | 69642124 | CATCTATA others(14): Show |
C | intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0116 | 1 | 294 | 0.0034 | -21 | c.258 others(40): Show |
SULF1 | ENSG00000137573.14 | transcript | ENST00000402687.9 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SULF2_chr20_47652406_47790481 | 47745391 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 358 | 0.0028 | -21 | c.176 others(38): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 2/20 | chr20 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47745393 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 | 1 | 337 | 0.0030 | -21 | c.176 others(38): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 2/20 | chr20 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47785435 | GCGCCGCC others(14): Show |
G | 5_prime_UTR_variant | MODIFIER | HG02818.hp2 HG03471.hp2 HG03540.hp2 |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0007a0001c0002t0007a0003c0005t0007 | a0001c0001t0007g0004 a0001c0002t0007g0003 a0003c0005t0007g0005 |
3 | 361 | 0.0083 | -21 | c.-21 others(30): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 1/21 | 28073 | chr20 | TogoVar | ||||||
SULT1C2_chr2_108283895_108314915 | 108296422 | TGGCTGGA others(14): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02622.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0037 a0001c0001t0005g0125 |
3 | 340 | 0.0088 | -21 | c.277 others(38): Show |
SULT1C2 | ENSG00000198203.10 | transcript | ENST00000251481.11 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SULT2B1_chr19_48547172_48604423 | 48602705 | ATATATAT others(14): Show |
A | downstream_gene_variant | MODIFIER | HG01261.hp2 HG01346.hp2 HG02572.hp2 others(1): Show |
a0001 | a0001c0004a0001c0007 | a0001c0004t0001a0001c0007t0001 | a0001c0004t0001g0053 a0001c0004t0001g0196 a0001c0007t0001g0034 others(1): Show |
4 | 260 | 0.0154 | -21 | c.*33 others(32): Show |
SULT2B1 | ENSG00000088002.12 | transcript | ENST00000201586.7 | protein_coding | 3283 | chr19 | TogoVar | |||||||
SULT6B1_chr2_37162820_37193670 | 37193576 | GAAGAAAA others(14): Show |
G | upstream_gene_variant | MODIFIER | NA19007.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0042 | 1 | 334 | 0.0030 | -21 | c.-49 others(32): Show |
SULT6B1 | ENSG00000138068.12 | transcript | ENST00000535679.6 | protein_coding | 4907 | chr2 | TogoVar | |||||||
SULT6B1_chr2_37162820_37193670 | 37193631 | AAGAAGAA others(14): Show |
A | upstream_gene_variant | MODIFIER | NA21309.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0025 | 1 | 352 | 0.0028 | -21 | c.-50 others(32): Show |
SULT6B1 | ENSG00000138068.12 | transcript | ENST00000535679.6 | protein_coding | 4962 | chr2 | TogoVar | |||||||
SUMF1_chr3_4356146_4472269 | 4398358 | TATGCATA others(14): Show |
T | intron_variant | MODIFIER | HG06807.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0043 a0001c0001t0007g0364 |
2 | 390 | 0.0051 | -21 | c.954 others(40): Show |
SUMF1 | ENSG00000144455.14 | transcript | ENST00000272902.10 | protein_coding | 7/8 | chr3 | TogoVar | |||||||
SUMO3_chr21_44800617_44823062 | 44813579 | CGAGGACA others(14): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00609.hp1 others(96): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0011 others(36): Show |
99 | 404 | 0.2451 | -21 | c.150 others(36): Show |
SUMO3 | ENSG00000184900.16 | transcript | ENST00000332859.11 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
SUPT20HL1_chrX_24355639_24372839 | 24364305 | TGCTGCTC others(14): Show |
T | conservative_inframe_deletion | MODERATE | HG00099.hp2 HG00597.hp1 HG01952.hp1 others(21): Show |
a0002 | a0002c0002a0002c0024 | a0002c0002t0003a0002c0024t0003 | a0002c0002t0003g0000 a0002c0024t0003g0000 |
24 | 314 | 0.0764 | -21 | c.155 others(30): Show |
p.Pro others(13): Show |
SUPT20HL1 | ENSG00000223731.4 | transcript | ENST00000686983.1 | protein_coding | 1/1 | 3674/7201 | 1552/2664 | 518/887 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
SUPT20H_chr13_37004312_37064688 | 37008315 | CCTGCACA others(14): Show |
C | downstream_gene_variant | MODIFIER | HG02976.hp1 HG03195.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0120 a0002c0002t0001g0128 |
2 | 302 | 0.0066 | -21 | c.*13 others(32): Show |
SUPT20H | ENSG00000102710.21 | transcript | ENST00000350612.11 | protein_coding | 996 | chr13 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 44956482 | AATAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01433.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0009a0001c0002t0002 | a0001c0001t0002g0053 a0001c0001t0009g0054 a0001c0001t0009g0055 others(12): Show |
15 | 259 | 0.0579 | -21 | c.581 others(38): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 7/10 | chr6 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 45128524 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0135 | 1 | 260 | 0.0038 | -21 | c.102 others(40): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
SUSD1_chr9_112035783_112180297 | 112142961 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG02922.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0179 a0001c0001t0003g0243 |
2 | 64 | 0.0313 | -21 | c.527 others(36): Show |
SUSD1 | ENSG00000106868.17 | transcript | ENST00000374270.8 | protein_coding | 4/16 | chr9 | TogoVar | |||||||
SWAP70_chr11_9659077_9757993 | 9725553 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG01109.hp2 HG01891.hp2 others(5): Show |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0006a0002c0001t0008others(1): Show | a0002c0001t0001g0251 a0002c0001t0001g0265 a0002c0001t0001g0279 others(5): Show |
8 | 278 | 0.0288 | -21 | c.642 others(36): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SWI5_chr9_128271276_128293989 | 128291978 | CAAAAAAA others(14): Show |
C | downstream_gene_variant | MODIFIER | HG02135.hp1 HG02135.hp2 HG03669.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0083 others(1): Show |
4 | 6 | 0.6667 | -21 | c.*32 others(32): Show |
SWI5 | ENSG00000175854.15 | transcript | ENST00000418976.3 | protein_coding | 2990 | chr9 | TogoVar | |||||||
SYCE1L_chr16_77194408_77218215 | 77209623 | TGATATTA others(14): Show |
T | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0189 | 1 | 440 | 0.0023 | -21 | c.359 others(36): Show |
SYCE1L | ENSG00000205078.6 | transcript | ENST00000378644.5 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SYCE1_chr10_133549847_133570583 | 133562266 | TGTGTGTG others(14): Show |
T | intron_variant | MODIFIER | NA19010.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0030 | 1 | 382 | 0.0026 | -21 | c.74- others(36): Show |
SYCE1 | ENSG00000171772.17 | transcript | ENST00000343131.7 | protein_coding | 1/12 | chr10 | TogoVar | |||||||
SYCP2L_chr6_10882052_10979309 | 10888066 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG01123.hp2 HG01975.hp1 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0018a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0018t0001others(7): Show | a0001c0001t0001g0005 a0001c0001t0001g0133 a0001c0001t0001g0167 others(15): Show |
18 | 20 | 0.9000 | -21 | c.9+9 others(32): Show |
SYCP2L | ENSG00000153157.14 | transcript | ENST00000283141.11 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYCP2_chr20_59858571_59938637 | 59876369 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG02630.hp2 NA18943.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0015 a0001c0001t0001g0157 a0001c0001t0001g0192 others(1): Show |
4 | 29 | 0.1379 | -21 | c.315 others(38): Show |
SYCP2 | ENSG00000196074.13 | transcript | ENST00000357552.8 | protein_coding | 33/44 | chr20 | TogoVar | |||||||
SYN2_chr3_11999388_12197032 | 12050711 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01109.hp1 HG03516.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0001 | a0001c0001t0002g0045 a0003c0003t0001g0023 a0003c0003t0001g0029 others(3): Show |
6 | 9 | 0.6667 | -21 | c.377 others(40): Show |
SYN2 | ENSG00000157152.17 | transcript | ENST00000621198.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 32674799 | GTCATCAT others(14): Show |
G | intron_variant | MODIFIER | HG02559.hp2 HG02630.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0010a0002c0002t0055 | a0001c0001t0010g0166 a0002c0002t0055g0062 |
2 | 184 | 0.0109 | -21 | c.712 others(40): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32759931 | CGCAGCCA others(14): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01081.hp2 HG01099.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0012others(10): Show | a0001c0001t0001g0011 a0001c0001t0001g0029 a0001c0001t0001g0032 others(13): Show |
16 | 184 | 0.0870 | -21 | c.711 others(42): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 33028643 | ATGGTGGT others(14): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG02818.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0010a0001c0001t0019a0001c0001t0042others(3): Show | a0001c0001t0010g0094 a0001c0001t0019g0092 a0001c0001t0042g0088 others(3): Show |
6 | 142 | 0.0423 | -21 | c.-16 others(42): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 1/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 33028670 | GTGGTGGT others(14): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01099.hp2 HG01106.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0019others(3): Show | a0001c0001t0001g0029 a0001c0001t0005g0158 a0001c0001t0019g0030 others(3): Show |
6 | 159 | 0.0377 | -21 | c.-16 others(42): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 1/13 | chr22 | TogoVar | |||||||
SYNC_chr1_32674906_32707770 | 32678567 | CTTTTTTT others(14): Show |
C | downstream_gene_variant | MODIFIER | HG01081.hp2 HG01123.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 | 2 | 5 | 0.4000 | -21 | c.*32 others(32): Show |
SYNC | ENSG00000162520.15 | transcript | ENST00000409190.8 | protein_coding | 1338 | chr1 | TogoVar |