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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SV2B_chr15_91095257_91307565 | 91125781 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0160 | 1 | 133 | 0.0075 | 25 | c.-39 others(46): Show |
SV2B | ENSG00000185518.12 | transcript | ENST00000394232.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SVEP1_chr9_110360248_110584741 | 110572789 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0019 | a0019c0015 | a0019c0015t0003 | a0019c0015t0003g0181 | 1 | 52 | 0.0192 | 25 | c.531 others(42): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 1/47 | chr9 | TogoVar | |||||||
SVIP_chr11_22813927_22834801 | 22831605 | A | AGGAGGGG others(18): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0094 | 1 | 243 | 0.0041 | 25 | c.-18 others(36): Show |
SVIP | ENSG00000198168.9 | transcript | ENST00000354193.5 | protein_coding | 1805 | chr11 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138642831 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0298 | 1 | 303 | 0.0033 | 25 | c.789 others(42): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 9/15 | chr7 | TogoVar | |||||||
SWAP70_chr11_9659077_9757993 | 9671743 | G | GAAATATA others(18): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01167.hp1 HG01169.hp1 others(3): Show |
a0002 | a0002c0001a0002c0004 | a0002c0001t0001a0002c0004t0001 | a0002c0001t0001g0281 a0002c0001t0001g0282 a0002c0001t0001g0283 others(3): Show |
6 | 176 | 0.0341 | 25 | c.99+ others(40): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SYBU_chr8_109568978_109649822 | 109645626 | G | GTTTTTTT others(18): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 a0001c0001t0001g0160 |
2 | 278 | 0.0072 | 25 | c.-96 others(34): Show |
SYBU | ENSG00000147642.17 | transcript | ENST00000276646.14 | protein_coding | 805 | chr8 | TogoVar | |||||||
SYCE1L_chr16_77194408_77218215 | 77205449 | T | TATGTATA others(18): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0112 | 1 | 440 | 0.0023 | 25 | c.62- others(38): Show |
SYCE1L | ENSG00000205078.6 | transcript | ENST00000378644.5 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
SYCP1_chr1_114849863_115000370 | 114857136 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03516.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0064 |
3 | 146 | 0.0205 | 25 | c.194 others(38): Show |
SYCP1 | ENSG00000198765.12 | transcript | ENST00000369522.8 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SYCP2L_chr6_10882052_10979309 | 10978305 | A | ATATATAT others(18): Show |
downstream_gene_variant | MODIFIER | NA19056.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0023 | 1 | 269 | 0.0037 | 25 | c.*43 others(36): Show |
SYCP2L | ENSG00000153157.14 | transcript | ENST00000283141.11 | protein_coding | 3997 | chr6 | TogoVar | |||||||
SYCP3_chr12_101723648_101744462 | 101735871 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | NA18957.hp2 NA18973.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 a0001c0001t0001g0209 |
2 | 121 | 0.0165 | 25 | c.236 others(40): Show |
SYCP3 | ENSG00000139351.15 | transcript | ENST00000392924.2 | protein_coding | 4/8 | chr12 | TogoVar | |||||||
SYCP3_chr12_101723648_101744462 | 101735871 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG02523.hp2 HG02723.hp2 NA18971.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0034 |
10 | 129 | 0.0775 | 25 | c.236 others(40): Show |
SYCP3 | ENSG00000139351.15 | transcript | ENST00000392924.2 | protein_coding | 4/8 | chr12 | TogoVar | |||||||
SYCP3_chr12_101723648_101744462 | 101735871 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG00609.hp1 NA18943.hp1 NA18943.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0127 a0001c0001t0001g0188 |
4 | 123 | 0.0325 | 25 | c.236 others(40): Show |
SYCP3 | ENSG00000139351.15 | transcript | ENST00000392924.2 | protein_coding | 4/8 | chr12 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32747305 | A | AAAAACAA others(18): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01109.hp1 HG02559.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0010others(5): Show | a0001c0001t0002g0118 a0001c0001t0005g0158 a0001c0001t0010g0166 others(5): Show |
8 | 70 | 0.1143 | 25 | c.711 others(46): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32747314 | A | ACAAAACA others(18): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0146 | 1 | 184 | 0.0054 | 25 | c.711 others(46): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32899101 | A | AAAAACAA others(18): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02074.hp1 HG02818.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(6): Show | a0001c0001t0001g0114 a0001c0001t0009g0090 a0001c0001t0010g0094 others(6): Show |
9 | 11 | 0.8182 | 25 | c.462 others(44): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 4/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 33059165 | A | AAAAAGAA others(18): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 HG03579.hp1 HG06807.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0031a0002c0002t0005a0002c0002t0051 | a0001c0001t0031g0143 a0002c0002t0005g0141 a0002c0002t0051g0142 |
3 | 34 | 0.0882 | 25 | c.-10 others(36): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 785 | chr22 | TogoVar | |||||||
SYNCRIP_chr6_85608976_85647886 | 85631339 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 181 | 0.0055 | 25 | c.666 others(42): Show |
SYNCRIP | ENSG00000135316.20 | transcript | ENST00000369622.8 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
SYNC_chr1_32674906_32707770 | 32687843 | A | ATTATTAT others(18): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0208 | 1 | 304 | 0.0033 | 25 | c.123 others(44): Show |
SYNC | ENSG00000162520.15 | transcript | ENST00000409190.8 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
SYNC_chr1_32674906_32707770 | 32687855 | A | ATTATTAT others(18): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 2 | 107 | 0.0187 | 25 | c.123 others(44): Show |
SYNC | ENSG00000162520.15 | transcript | ENST00000409190.8 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152179673 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0118 | a0118c0031 | a0118c0031t0007 | a0118c0031t0007g0172 | 1 | 43 | 0.0233 | 25 | c.234 others(44): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 129/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152188984 | A | AAATATAT others(18): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0008 | a0008c0086 | a0008c0086t0007 | a0008c0086t0007g0149 | 1 | 97 | 0.0103 | 25 | c.233 others(44): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 128/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152195843 | G | GGAGTCTG others(18): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01081.hp1 HG01081.hp2 others(28): Show |
a0001a0002a0003others(27): Show | a0001c0138a0002c0056a0003c0152others(28): Show | a0001c0138t0006a0002c0056t0005a0003c0152t0001others(28): Show | a0001c0138t0006g0147 a0002c0056t0005g0102 a0003c0152t0001g0034 others(28): Show |
31 | 172 | 0.1802 | 25 | c.231 others(46): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 127/145 | chr6 | TogoVar | |||||||
SYNE2_chr14_63848004_64231433 | 63913837 | T | TTTTTTAA others(18): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00609.hp1 others(91): Show |
a0001a0002a0003others(45): Show | a0001c0004a0001c0005a0001c0009others(62): Show | a0001c0004t0002a0001c0004t0004a0001c0005t0001others(67): Show | a0001c0004t0002g0131 a0001c0004t0004g0104 a0001c0004t0004g0105 others(91): Show |
94 | 148 | 0.6351 | 25 | c.79+ others(40): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 2/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 63919972 | G | GTTTTTTT others(18): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0094 | 1 | 77 | 0.0130 | 25 | c.79+ others(42): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 2/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 63944824 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0025 | a0001c0025t0002 | a0001c0025t0002g0084 | 1 | 42 | 0.0238 | 25 | c.408 others(42): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 6/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE3_chr14_95402266_95521650 | 95488697 | G | GGAGGAGA others(18): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG01106.hp1 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0076a0002c0002others(7): Show | a0001c0001t0045a0001c0076t0130a0002c0002t0052others(9): Show | a0001c0001t0045g0298 a0001c0001t0045g0299 a0001c0076t0130g0357 others(10): Show |
13 | 117 | 0.1111 | 25 | c.-14 others(44): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 1/17 | chr14 | TogoVar | |||||||
SYNJ2_chr6_157976863_158104176 | 158029042 | C | CCCTGCAG others(18): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(165): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0006a0001c0007others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(52): Show | a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0053 others(165): Show |
168 | 310 | 0.5419 | 25 | c.485 others(38): Show |
SYNJ2 | ENSG00000078269.15 | transcript | ENST00000355585.9 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYNM_chr15_99100080_99140593 | 99104555 | A | ATATATAT others(18): Show |
upstream_gene_variant | MODIFIER | HG03486.hp1 | a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0184 | 1 | 59 | 0.0169 | 25 | c.-64 others(34): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 524 | chr15 | TogoVar | |||||||
SYNM_chr15_99100080_99140593 | 99104555 | A | ATATATAT others(18): Show |
upstream_gene_variant | MODIFIER | NA20129.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0036 | 1 | 59 | 0.0169 | 25 | c.-64 others(34): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 524 | chr15 | TogoVar | |||||||
SYNPR_chr3_63273308_63621924 | 63408142 | A | AAAAGAAA others(18): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02895.hp2 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0060 a0001c0001t0001g0103 a0001c0001t0001g0104 others(1): Show |
4 | 147 | 0.0272 | 25 | c.85- others(42): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63408277 | G | GAAAGAAA others(18): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0196 | 1 | 185 | 0.0054 | 25 | c.85- others(42): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63408296 | G | GAAAGAAA others(18): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0174 | 1 | 245 | 0.0041 | 25 | c.85- others(42): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63408324 | G | GAAAGAAA others(18): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0144 | 1 | 242 | 0.0041 | 25 | c.85- others(42): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63408332 | G | GAAAGAAA others(18): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0033 | 1 | 244 | 0.0041 | 25 | c.85- others(42): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYT10_chr12_33369238_33444819 | 33442737 | C | CCTTTTCT others(18): Show |
upstream_gene_variant | MODIFIER | HG03139.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0020 | a0001c0001t0005g0135 a0001c0001t0020g0134 |
2 | 247 | 0.0081 | 25 | c.-32 others(36): Show |
SYT10 | ENSG00000110975.8 | transcript | ENST00000228567.7 | protein_coding | 2919 | chr12 | TogoVar | |||||||
SYT12_chr11_67018134_67055863 | 67055219 | C | CAACGGAG others(18): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 | 1 | 294 | 0.0034 | 25 | c.*64 others(36): Show |
SYT12 | ENSG00000173227.14 | transcript | ENST00000527043.6 | protein_coding | 4357 | chr11 | TogoVar | |||||||
SYT15B_chr10_47739717_47768592 | 47744413 | G | GGGGGGGG others(18): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 HG00639.hp2 HG00738.hp2 others(41): Show |
a0001a0007 | a0001c0001a0001c0004a0007c0018 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0023 others(25): Show |
44 | 188 | 0.2340 | 25 | c.*97 others(36): Show |
SYT15B | ENSG00000277758.6 | transcript | ENST00000615923.4 | protein_coding | 303 | chr10 | TogoVar | |||||||
SYT15B_chr10_47739717_47768592 | 47744414 | G | GGGGGGGT others(18): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 HG02027.hp1 HG02083.hp1 others(10): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(4): Show | a0001c0001t0001g0001 a0001c0001t0006g0142 a0001c0001t0006g0149 others(8): Show |
13 | 244 | 0.0533 | 25 | c.*97 others(36): Show |
SYT15B | ENSG00000277758.6 | transcript | ENST00000615923.4 | protein_coding | 302 | chr10 | TogoVar | |||||||
SYT15B_chr10_47739717_47768592 | 47744414 | G | GGGGGGGT others(18): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00438.hp1 others(41): Show |
a0001a0002a0011 | a0001c0003a0002c0002a0011c0019 | a0001c0003t0027a0002c0002t0002a0002c0002t0007others(14): Show | a0001c0003t0027g0061 a0001c0003t0027g0073 a0002c0002t0002g0002 others(22): Show |
44 | 275 | 0.1600 | 25 | c.*97 others(36): Show |
SYT15B | ENSG00000277758.6 | transcript | ENST00000615923.4 | protein_coding | 302 | chr10 | TogoVar | |||||||
SYT15B_chr10_47739717_47768592 | 47744419 | G | GGTTGGGG others(18): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG01516.hp1 |
a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0135 a0001c0001t0022g0137 |
2 | 339 | 0.0059 | 25 | c.*97 others(36): Show |
SYT15B | ENSG00000277758.6 | transcript | ENST00000615923.4 | protein_coding | 297 | chr10 | TogoVar | |||||||
SYT16_chr14_61807703_62117550 | 62116605 | C | CTTTTTTT others(18): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 14 | 0.0714 | 25 | c.*15 others(38): Show |
SYT16 | ENSG00000139973.18 | transcript | ENST00000683842.1 | protein_coding | 4056 | chr14 | TogoVar | |||||||
SYT17_chr16_19163240_19273332 | 19167517 | A | AAAAATAA others(18): Show |
upstream_gene_variant | MODIFIER | NA18747.hp2 NA18957.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 a0001c0001t0001g0104 a0001c0001t0001g0255 |
3 | 76 | 0.0395 | 25 | c.-11 others(36): Show |
SYT17 | ENSG00000103528.17 | transcript | ENST00000355377.7 | protein_coding | 722 | chr16 | TogoVar | |||||||
SYT1_chr12_78859774_79457008 | 79308551 | A | AGAAAGAA others(18): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0016 | 1 | 55 | 0.0182 | 25 | c.810 others(42): Show |
SYT1 | ENSG00000067715.15 | transcript | ENST00000261205.9 | protein_coding | 8/10 | chr12 | TogoVar | |||||||
SYT1_chr12_78859774_79457008 | 79308659 | A | AGAAAGAA others(18): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0038 | 1 | 59 | 0.0169 | 25 | c.810 others(42): Show |
SYT1 | ENSG00000067715.15 | transcript | ENST00000261205.9 | protein_coding | 8/10 | chr12 | TogoVar | |||||||
SYT5_chr19_55166196_55185289 | 55170872 | C | CTCTCTCT others(18): Show |
downstream_gene_variant | MODIFIER | HG03225.hp1 | a0004 | a0004c0005 | a0004c0005t0024 | a0004c0005t0024g0032 | 1 | 353 | 0.0028 | 25 | c.*26 others(36): Show |
SYT5 | ENSG00000129990.15 | transcript | ENST00000354308.8 | protein_coding | 323 | chr19 | TogoVar | |||||||
SYT5_chr19_55166196_55185289 | 55170873 | T | TCTCTCTC others(18): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 HG03471.hp2 HG03540.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0014 | a0001c0002t0002g0002 a0001c0002t0014g0090 |
3 | 397 | 0.0076 | 25 | c.*26 others(36): Show |
SYT5 | ENSG00000129990.15 | transcript | ENST00000354308.8 | protein_coding | 322 | chr19 | TogoVar | |||||||
SYT6_chr1_114084292_114158869 | 114143145 | T | TACATATA others(18): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01192.hp2 HG02257.hp1 others(17): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0117 a0001c0001t0001g0233 a0001c0001t0001g0237 others(17): Show |
20 | 424 | 0.0472 | 25 | c.164 others(42): Show |
SYT6 | ENSG00000134207.17 | transcript | ENST00000610222.3 | protein_coding | 1/7 | chr1 | TogoVar | |||||||
SYVN1_chr11_65122279_65139519 | 65138605 | A | AGCAAATG others(18): Show |
upstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 | 1 | 410 | 0.0024 | 25 | c.-41 others(36): Show |
SYVN1 | ENSG00000162298.19 | transcript | ENST00000377190.8 | protein_coding | 4087 | chr11 | TogoVar | |||||||
TAB2_chr6_149312712_149416607 | 149357430 | A | AAAAAAAC others(18): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0344 | 1 | 111 | 0.0090 | 25 | c.-89 others(44): Show |
TAB2 | ENSG00000055208.20 | transcript | ENST00000637181.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TAB2_chr6_149312712_149416607 | 149358673 | T | TGTGTGTG others(18): Show |
intron_variant | MODIFIER | HG03579.hp2 NA18956.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 a0001c0001t0001g0157 |
2 | 352 | 0.0057 | 25 | c.-89 others(44): Show |
TAB2 | ENSG00000055208.20 | transcript | ENST00000637181.2 | protein_coding | 1/6 | chr6 | TogoVar |