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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SUGP1_chr19_19271033_19325509 | 19271742 | GCTGGTCT others(12): Show |
G | downstream_gene_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG01099.hp2 others(23): Show |
a0001a0004 | a0001c0002a0004c0010 | a0001c0002t0002a0004c0010t0002 | a0001c0002t0002g0003 a0001c0002t0002g0019 a0001c0002t0002g0036 others(20): Show |
26 | 330 | 0.0788 | -19 | c.*48 others(30): Show |
SUGP1 | ENSG00000105705.16 | transcript | ENST00000247001.10 | protein_coding | 4290 | chr19 | TogoVar | |||||||
SUGP2_chr19_18985893_19038517 | 19005870 | CACACACA others(12): Show |
C | intron_variant | MODIFIER | HG01071.hp1 HG03130.hp2 |
a0001a0011 | a0001c0001a0011c0018 | a0001c0001t0001a0011c0018t0008 | a0001c0001t0001g0112 a0011c0018t0008g0181 |
2 | 300 | 0.0067 | -19 | c.245 others(38): Show |
SUGP2 | ENSG00000064607.17 | transcript | ENST00000452918.7 | protein_coding | 6/10 | chr19 | TogoVar | |||||||
SUGT1_chr13_52647836_52705909 | 52659806 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG02615.hp1 HG02630.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0094a0001c0001t0095others(2): Show | a0001c0001t0018g0030 a0001c0001t0018g0148 a0001c0001t0094g0147 others(3): Show |
6 | 307 | 0.0195 | -19 | c.328 others(34): Show |
SUGT1 | ENSG00000165416.15 | transcript | ENST00000310528.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SULF2_chr20_47652406_47790481 | 47745393 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG01496.hp2 NA18954.hp2 NA18979.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0002t0001 | a0001c0001t0001g0177 a0001c0001t0009g0162 a0001c0002t0001g0083 others(1): Show |
4 | 340 | 0.0118 | -19 | c.176 others(36): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 2/20 | chr20 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47745395 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0004 | 1 | 348 | 0.0029 | -19 | c.176 others(36): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 2/20 | chr20 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47745399 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0351 | 1 | 357 | 0.0028 | -19 | c.176 others(36): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 2/20 | chr20 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47745401 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG04204.hp1 NA18994.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 a0001c0001t0001g0223 a0001c0001t0001g0258 others(1): Show |
4 | 359 | 0.0111 | -19 | c.176 others(36): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 2/20 | chr20 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47745405 | AAAAAAAT others(12): Show |
A | intron_variant | MODIFIER | HG02148.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0192 | 1 | 351 | 0.0028 | -19 | c.176 others(36): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 2/20 | chr20 | TogoVar | |||||||
SULT1C3_chr2_108234968_108265886 | 108259017 | TCAGGTGA others(12): Show |
T | frameshift_variant | HIGH | NA19087.hp1 | a0005 | a0005c0008 | a0005c0008t0004 | a0005c0008t0004g0002 | 1 | 374 | 0.0027 | -19 | c.674 others(26): Show |
p.Ser others(5): Show |
SULT1C3 | ENSG00000196228.5 | transcript | ENST00000681802.2 | protein_coding | 7/8 | 797/1244 | 674/915 | 225/304 | chr2 | TogoVar | |||
SULT2B1_chr19_48547172_48604423 | 48587890 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0053 | 1 | 12 | 0.0833 | -19 | c.423 others(34): Show |
SULT2B1 | ENSG00000088002.12 | transcript | ENST00000201586.7 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SULT2B1_chr19_48547172_48604423 | 48596454 | GGCTGTGA others(12): Show |
G | intron_variant | MODIFIER | HG02071.hp2 HG02738.hp1 NA18945.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 a0001c0001t0001g0141 a0001c0001t0001g0211 others(3): Show |
6 | 374 | 0.0160 | -19 | c.646 others(34): Show |
SULT2B1 | ENSG00000088002.12 | transcript | ENST00000201586.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SULT2B1_chr19_48547172_48604423 | 48602703 | AAATATAT others(12): Show |
A | downstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0045 | 1 | 369 | 0.0027 | -19 | c.*32 others(30): Show |
SULT2B1 | ENSG00000088002.12 | transcript | ENST00000201586.7 | protein_coding | 3281 | chr19 | TogoVar | |||||||
SULT2B1_chr19_48547172_48604423 | 48602705 | ATATATAT others(12): Show |
A | downstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 257 | 0.0039 | -19 | c.*33 others(30): Show |
SULT2B1 | ENSG00000088002.12 | transcript | ENST00000201586.7 | protein_coding | 3283 | chr19 | TogoVar | |||||||
SUN1_chr7_827476_879934 | 852644 | TCATCCCA others(12): Show |
T | frameshift_variant | HIGH | NA19055.hp2 | a0019 | a0019c0015 | a0019c0015t0008 | a0019c0015t0008g0235 | 1 | 416 | 0.0024 | -19 | c.889 others(26): Show |
p.Ile others(5): Show |
SUN1 | ENSG00000164828.18 | transcript | ENST00000401592.6 | protein_coding | 8/19 | 938/4010 | 889/2358 | 297/785 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
SUN2_chr22_38729734_38760998 | 38732041 | TCTCTAGC others(12): Show |
T | downstream_gene_variant | MODIFIER | NA19070.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0039 | 1 | 348 | 0.0029 | -19 | c.*42 others(30): Show |
SUN2 | ENSG00000100242.16 | transcript | ENST00000689035.1 | protein_coding | 2692 | chr22 | TogoVar | |||||||
SUN5_chr20_32978775_33009433 | 32980683 | GTGGGTGG others(12): Show |
G | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01346.hp2 HG01433.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0107 a0001c0001t0001g0277 a0002c0002t0001g0026 others(4): Show |
8 | 380 | 0.0211 | -19 | c.*30 others(30): Show |
SUN5 | ENSG00000167098.12 | transcript | ENST00000356173.8 | protein_coding | 3091 | chr20 | TogoVar | |||||||
SUN5_chr20_32978775_33009433 | 33001507 | TTTTCTTT others(12): Show |
T | intron_variant | MODIFIER | HG02615.hp2 HG02976.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0282 a0003c0003t0001g0283 |
2 | 373 | 0.0054 | -19 | c.212 others(34): Show |
SUN5 | ENSG00000167098.12 | transcript | ENST00000356173.8 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 44956478 | AAAAAATA others(12): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01167.hp2 HG01891.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0001g0212 a0001c0001t0001g0218 a0001c0001t0005g0011 others(13): Show |
16 | 261 | 0.0613 | -19 | c.581 others(36): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 7/10 | chr6 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 45018859 | CATAAAAT others(12): Show |
C | intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0107 | 1 | 262 | 0.0038 | -19 | c.273 others(36): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 4/10 | chr6 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 45294733 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0054 | 1 | 24 | 0.0417 | -19 | c.101 others(38): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
SUSD1_chr9_112035783_112180297 | 112142961 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0063 | 1 | 63 | 0.0159 | -19 | c.527 others(34): Show |
SUSD1 | ENSG00000106868.17 | transcript | ENST00000374270.8 | protein_coding | 4/16 | chr9 | TogoVar | |||||||
SV2B_chr15_91095257_91307565 | 91304613 | AAGGAGAG others(12): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01192.hp2 HG02040.hp2 others(7): Show |
a0001a0005 | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0003a0001c0001t0064a0001c0005t0007others(5): Show | a0001c0001t0003g0173 a0001c0001t0064g0119 a0001c0005t0007g0027 others(7): Show |
10 | 212 | 0.0472 | -19 | c.*12 others(32): Show |
SV2B | ENSG00000185518.12 | transcript | ENST00000394232.6 | protein_coding | 2049 | chr15 | TogoVar | |||||||
SVEP1_chr9_110360248_110584741 | 110511488 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01074.hp1 HG03017.hp1 others(3): Show |
a0003a0007a0056others(2): Show | a0003c0143a0007c0035a0056c0144others(2): Show | a0003c0143t0001a0007c0035t0001a0056c0144t0001others(2): Show | a0003c0143t0001g0204 a0007c0035t0001g0115 a0007c0035t0001g0116 others(3): Show |
6 | 126 | 0.0476 | -19 | c.130 others(38): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 5/47 | chr9 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138686609 | AGGCTGCA others(12): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(137): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0040 others(137): Show |
140 | 358 | 0.3911 | -19 | c.-34 others(36): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
SWAP70_chr11_9659077_9757993 | 9725555 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG00099.hp1 | a0002 | a0002c0001 | a0002c0001t0006 | a0002c0001t0006g0038 | 1 | 291 | 0.0034 | -19 | c.642 others(34): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SWI5_chr9_128271276_128293989 | 128291978 | CAAAAAAA others(12): Show |
C | downstream_gene_variant | MODIFIER | HG01496.hp1 HG01884.hp1 HG02622.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0030 others(2): Show |
5 | 7 | 0.7143 | -19 | c.*32 others(30): Show |
SWI5 | ENSG00000175854.15 | transcript | ENST00000418976.3 | protein_coding | 2990 | chr9 | TogoVar | |||||||
SYCP1_chr1_114849863_115000370 | 114993268 | ATTGAATT others(12): Show |
A | intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 310 | 0.0032 | -19 | c.270 others(38): Show |
SYCP1 | ENSG00000198765.12 | transcript | ENST00000369522.8 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SYCP2L_chr6_10882052_10979309 | 10888066 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01928.hp2 HG02015.hp1 others(20): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0034 a0001c0001t0001g0139 a0001c0001t0001g0235 others(20): Show |
23 | 25 | 0.9200 | -19 | c.9+9 others(30): Show |
SYCP2L | ENSG00000153157.14 | transcript | ENST00000283141.11 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYCP2_chr20_59858571_59938637 | 59876369 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp1 HG01255.hp1 others(14): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0002others(2): Show | a0001c0001t0001g0073 a0001c0001t0001g0130 a0001c0003t0001g0002 others(12): Show |
17 | 42 | 0.4048 | -19 | c.315 others(36): Show |
SYCP2 | ENSG00000196074.13 | transcript | ENST00000357552.8 | protein_coding | 33/44 | chr20 | TogoVar | |||||||
SYMPK_chr19_45810410_45868147 | 45853738 | TCTGGGCT others(12): Show |
T | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0167 | 1 | 390 | 0.0026 | -19 | c.171 others(34): Show |
SYMPK | ENSG00000125755.19 | transcript | ENST00000245934.12 | protein_coding | 3/26 | chr19 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 33008924 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0004 | a0001c0004t0056 | a0001c0004t0056g0021 | 1 | 50 | 0.0200 | -19 | c.-16 others(38): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 1/13 | chr22 | TogoVar | |||||||
SYNC_chr1_32674906_32707770 | 32678567 | CTTTTTTT others(12): Show |
C | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02109.hp1 HG02280.hp2 others(1): Show |
a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0018 a0004c0004t0005g0019 |
4 | 7 | 0.5714 | -19 | c.*32 others(30): Show |
SYNC | ENSG00000162520.15 | transcript | ENST00000409190.8 | protein_coding | 1338 | chr1 | TogoVar | |||||||
SYNDIG1_chr20_24464629_24671616 | 24469789 | AGGGGCCC others(12): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG03540.hp1 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0268 a0004c0005t0001g0269 |
2 | 268 | 0.0075 | -19 | c.-79 others(32): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SYNE1_chr6_152116687_152642362 | 152188977 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0054 | a0054c0164 | a0054c0164t0018 | a0054c0164t0018g0174 | 1 | 153 | 0.0065 | -19 | c.233 others(38): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 128/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152188979 | AAAAAAAT others(12): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG03225.hp1 |
a0058a0087 | a0058c0102a0087c0141 | a0058c0102t0004a0087c0141t0001 | a0058c0102t0004g0085 a0087c0141t0001g0114 |
2 | 168 | 0.0119 | -19 | c.233 others(38): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 128/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152188985 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02257.hp2 | a0056 | a0056c0072 | a0056c0072t0002 | a0056c0072t0002g0015 | 1 | 158 | 0.0063 | -19 | c.233 others(38): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 128/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152253817 | GGTTTTTT others(12): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02622.hp2 HG02723.hp1 others(4): Show |
a0057a0064a0069others(4): Show | a0057c0118a0064c0038a0069c0103others(4): Show | a0057c0118t0004a0064c0038t0001a0069c0103t0005others(4): Show | a0057c0118t0004g0009 a0064c0038t0001g0119 a0069c0103t0005g0094 others(4): Show |
7 | 66 | 0.1061 | -19 | c.194 others(40): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 104/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152377637 | AAAAATAT others(12): Show |
A | intron_variant | MODIFIER | NA18961.hp2 NA18979.hp1 |
a0108a0112 | a0108c0081a0112c0080 | a0108c0081t0006a0112c0080t0007 | a0108c0081t0006g0131 a0112c0080t0007g0123 |
2 | 171 | 0.0117 | -19 | c.901 others(36): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 56/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152604993 | AAAGAAAG others(12): Show |
A | intron_variant | MODIFIER | NA19087.hp1 | a0024 | a0024c0123 | a0024c0123t0007 | a0024c0123t0007g0138 | 1 | 172 | 0.0058 | -19 | c.67+ others(36): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 3/145 | chr6 | TogoVar | |||||||
SYNE2_chr14_63848004_64231433 | 64100532 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG02970.hp2 |
a0017 | a0017c0012 | a0017c0012t0001 | a0017c0012t0001g0073 a0017c0012t0001g0097 |
2 | 113 | 0.0177 | -19 | c.123 others(40): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 63/115 | chr14 | TogoVar | |||||||
SYNJ1_chr21_32623763_32733013 | 32672966 | ACATAATC others(12): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0192 | 1 | 344 | 0.0029 | -19 | c.172 others(36): Show |
SYNJ1 | ENSG00000159082.18 | transcript | ENST00000674351.1 | protein_coding | 14/32 | chr21 | TogoVar | |||||||
SYNJ2_chr6_157976863_158104176 | 157993797 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0001 | 1 | 37 | 0.0270 | -19 | c.127 others(38): Show |
SYNJ2 | ENSG00000078269.15 | transcript | ENST00000355585.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYNJ2_chr6_157976863_158104176 | 158088034 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0121 | 1 | 89 | 0.0112 | -19 | c.334 others(36): Show |
SYNJ2 | ENSG00000078269.15 | transcript | ENST00000355585.9 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63336519 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01069.hp1 NA18943.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0141 a0001c0001t0002g0135 a0001c0001t0003g0121 |
3 | 19 | 0.1579 | -19 | c.84+ others(36): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYT10_chr12_33369238_33444819 | 33442758 | CTTTTCTT others(12): Show |
C | upstream_gene_variant | MODIFIER | HG02970.hp2 HG03195.hp1 HG03453.hp1 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0010a0001c0005t0012 | a0001c0005t0010g0219 a0001c0005t0010g0221 a0001c0005t0010g0223 others(2): Show |
6 | 316 | 0.0190 | -19 | c.-32 others(30): Show |
SYT10 | ENSG00000110975.8 | transcript | ENST00000228567.7 | protein_coding | 2940 | chr12 | TogoVar | |||||||
SYT14_chr1_209933217_210176315 | 210140417 | TTATAAGA others(12): Show |
T | intron_variant | MODIFIER | HG03471.hp2 NA18906.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0029 | a0001c0001t0020g0235 a0001c0001t0029g0236 a0001c0001t0029g0237 |
3 | 356 | 0.0084 | -19 | c.116 others(40): Show |
SYT14 | ENSG00000143469.21 | transcript | ENST00000367019.6 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SYT16_chr14_61807703_62117550 | 61886880 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG01257.hp2 HG01346.hp1 HG02109.hp1 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0152 a0001c0001t0003g0110 a0001c0001t0003g0153 others(7): Show |
10 | 45 | 0.2222 | -19 | c.-32 others(40): Show |
SYT16 | ENSG00000139973.18 | transcript | ENST00000683842.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYT16_chr14_61807703_62117550 | 61926188 | CTAGAAGG others(12): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG03688.hp2 NA20129.hp1 |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0020a0001c0002t0004a0002c0003t0022 | a0001c0001t0020g0124 a0001c0002t0004g0131 a0002c0003t0022g0034 |
3 | 172 | 0.0174 | -19 | c.-32 others(40): Show |
SYT16 | ENSG00000139973.18 | transcript | ENST00000683842.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYT17_chr16_19163240_19273332 | 19270702 | TTGCTGGA others(12): Show |
T | downstream_gene_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0307 | 1 | 322 | 0.0031 | -19 | c.*36 others(30): Show |
SYT17 | ENSG00000103528.17 | transcript | ENST00000355377.7 | protein_coding | 2371 | chr16 | TogoVar | |||||||
SYT1_chr12_78859774_79457008 | 78929407 | CCCAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG02486.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0009a0001c0002t0010 | a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0009g0008 others(1): Show |
4 | 45 | 0.0889 | -19 | c.-21 others(40): Show |
SYT1 | ENSG00000067715.15 | transcript | ENST00000261205.9 | protein_coding | 1/10 | chr12 | TogoVar |