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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SYNJ1_chr21_32623763_32733013 | 32649746 | A | ATTTGT | intron_variant | MODIFIER | HG02055.hp1 HG02451.hp2 HG02630.hp1 others(7): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0020a0002c0002t0001others(1): Show | a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0020g0184 others(7): Show |
10 | 344 | 0.0291 | 5 | c.303 others(22): Show |
SYNJ1 | ENSG00000159082.18 | transcript | ENST00000674351.1 | protein_coding | 23/32 | chr21 | TogoVar | |||||||
SYNJ1_chr21_32623763_32733013 | 32664515 | C | CCTGTT | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00597.hp1 others(165): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0007a0001c0008others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(143): Show |
168 | 344 | 0.4884 | 5 | c.230 others(22): Show |
SYNJ1 | ENSG00000159082.18 | transcript | ENST00000674351.1 | protein_coding | 18/32 | chr21 | TogoVar | |||||||
SYNJ2_chr6_157976863_158104176 | 158004899 | C | CCACGT | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00544.hp1 others(40): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0030a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0030others(10): Show | a0001c0001t0001g0040 a0001c0001t0001g0091 a0001c0001t0001g0095 others(40): Show |
43 | 310 | 0.1387 | 5 | c.128 others(24): Show |
SYNJ2 | ENSG00000078269.15 | transcript | ENST00000355585.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYNJ2_chr6_157976863_158104176 | 158097843 | T | TAAAAA | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(70): Show |
a0001a0013a0017 | a0001c0001a0001c0006a0001c0007others(6): Show | a0001c0001t0002a0001c0001t0017a0001c0001t0031others(8): Show | a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0015 others(70): Show |
73 | 180 | 0.4056 | 5 | c.*14 others(16): Show |
SYNJ2 | ENSG00000078269.15 | transcript | ENST00000355585.9 | protein_coding | 27/27 | 1491 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SYNJ2_chr6_157976863_158104176 | 158103136 | G | GTTTTT | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG01361.hp1 others(12): Show |
a0001a0006 | a0001c0001a0006c0011 | a0001c0001t0001a0001c0001t0014a0001c0001t0029others(1): Show | a0001c0001t0001g0022 a0001c0001t0001g0051 a0001c0001t0001g0141 others(12): Show |
15 | 131 | 0.1145 | 5 | c.*67 others(16): Show |
SYNJ2 | ENSG00000078269.15 | transcript | ENST00000355585.9 | protein_coding | 3961 | chr6 | TogoVar | |||||||
SYNM_chr15_99100080_99140593 | 99104341 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02258.hp1 HG02717.hp2 others(12): Show |
a0001a0002a0036others(1): Show | a0001c0007a0002c0005a0002c0048others(2): Show | a0001c0007t0010a0002c0005t0007a0002c0005t0008others(3): Show | a0001c0007t0010g0023 a0001c0007t0010g0197 a0001c0007t0010g0198 others(7): Show |
15 | 103 | 0.1456 | 5 | c.-85 others(14): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 738 | chr15 | TogoVar | |||||||
SYNM_chr15_99100080_99140593 | 99114020 | G | GGAACT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp2 others(180): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0007a0001c0018others(29): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(42): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0017 others(112): Show |
183 | 418 | 0.4378 | 5 | c.935 others(20): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SYNM_chr15_99100080_99140593 | 99136228 | C | CTGGGG | downstream_gene_variant | MODIFIER | HG01257.hp2 HG02738.hp2 HG03927.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0040 a0002c0002t0002g0117 |
3 | 418 | 0.0072 | 5 | c.*31 others(16): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 636 | chr15 | TogoVar | |||||||
SYNPO2_chr4_118883854_119066247 | 118927749 | T | TATATA | intron_variant | MODIFIER | HG00741.hp1 HG01099.hp2 HG01123.hp1 others(27): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0036a0002c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0036t0025others(17): Show | a0001c0001t0001g0073 a0001c0001t0001g0106 a0001c0001t0001g0199 others(27): Show |
30 | 261 | 0.1149 | 5 | c.105 others(24): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
SYNPO2_chr4_118883854_119066247 | 118933829 | G | GTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(222): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0005a0001c0017others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(82): Show | a0001c0001t0001g0023 a0001c0001t0001g0071 a0001c0001t0001g0073 others(222): Show |
225 | 259 | 0.8687 | 5 | c.105 others(24): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SYNPO2_chr4_118883854_119066247 | 118949750 | A | AAAAAT | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(39): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0017others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0036others(23): Show | a0001c0001t0001g0023 a0001c0001t0001g0111 a0001c0001t0001g0123 others(39): Show |
42 | 288 | 0.1458 | 5 | c.105 others(24): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SYNPO2_chr4_118883854_119066247 | 119012393 | T | TTTTTA | intron_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG03209.hp2 others(3): Show |
a0002a0003a0007others(1): Show | a0002c0003a0002c0019a0003c0006others(2): Show | a0002c0003t0003a0002c0019t0010a0003c0006t0001others(2): Show | a0002c0003t0003g0053 a0002c0019t0010g0068 a0003c0006t0001g0051 others(3): Show |
6 | 212 | 0.0283 | 5 | c.106 others(24): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
SYNPO2_chr4_118883854_119066247 | 119022512 | G | GTTTTT | intron_variant | MODIFIER | HG02451.hp2 HG02622.hp2 HG02630.hp1 others(4): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0003a0002c0019others(2): Show | a0001c0001t0004a0001c0001t0013a0002c0003t0007others(3): Show | a0001c0001t0004g0117 a0001c0001t0004g0119 a0001c0001t0013g0126 others(4): Show |
7 | 152 | 0.0461 | 5 | c.106 others(20): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SYNPO2_chr4_118883854_119066247 | 119022724 | A | AATTGT | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(122): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0005a0001c0017others(19): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(44): Show | a0001c0001t0001g0249 a0001c0001t0004g0117 a0001c0001t0004g0119 others(122): Show |
125 | 290 | 0.4310 | 5 | c.106 others(20): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SYNPO2_chr4_118883854_119066247 | 119022762 | A | ATATTT | intron_variant | MODIFIER | HG02257.hp1 HG02818.hp2 HG03239.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004 | a0001c0001t0001a0002c0003t0007a0002c0004t0005 | a0001c0001t0001g0149 a0002c0003t0007g0296 a0002c0004t0005g0101 others(1): Show |
4 | 308 | 0.0130 | 5 | c.106 others(20): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SYNPO2_chr4_118883854_119066247 | 119051186 | A | ATGTTT | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00597.hp2 others(83): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0017others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0085 others(83): Show |
86 | 93 | 0.9247 | 5 | c.325 others(24): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SYNPO_chr5_150635660_150664207 | 150646751 | A | AAAATT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(77): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(37): Show | a0001c0001t0001g0122 a0001c0001t0002g0039 a0001c0001t0002g0123 others(48): Show |
80 | 388 | 0.2062 | 5 | c.-33 others(24): Show |
SYNPO | ENSG00000171992.13 | transcript | ENST00000307662.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63340419 | A | ACTTTT | intron_variant | MODIFIER | HG03041.hp2 HG03239.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0017 | a0001c0001t0002g0173 a0001c0001t0009g0223 a0001c0001t0017g0111 |
3 | 69 | 0.0435 | 5 | c.84+ others(22): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | chr3 | TogoVar | |||||||
SYNPR_chr3_63273308_63621924 | 63393496 | C | CTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00609.hp1 others(45): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0043 others(45): Show |
48 | 93 | 0.5161 | 5 | c.85- others(22): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63408154 | G | GAAAGA | intron_variant | MODIFIER | HG01070.hp1 HG01978.hp1 HG02055.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0086 a0001c0001t0001g0133 a0001c0001t0001g0156 others(4): Show |
7 | 246 | 0.0285 | 5 | c.85- others(22): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63454752 | G | GTGTGA | intron_variant | MODIFIER | HG02258.hp1 HG02717.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0090 a0001c0001t0005g0109 a0001c0001t0005g0172 |
3 | 230 | 0.0130 | 5 | c.85- others(22): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63493815 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00597.hp1 others(51): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0034 others(51): Show |
54 | 148 | 0.3649 | 5 | c.209 others(24): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63540930 | A | ACACAC | intron_variant | MODIFIER | HG01175.hp1 HG02027.hp1 HG02735.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0112 others(14): Show |
17 | 161 | 0.1056 | 5 | c.210 others(24): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 3/5 | chr3 | TogoVar | |||||||
SYNPR_chr3_63273308_63621924 | 63613610 | C | CAAAAA | intron_variant | MODIFIER | HG00597.hp1 HG01070.hp1 HG01261.hp2 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0060 a0001c0001t0001g0184 a0001c0001t0002g0008 others(6): Show |
9 | 70 | 0.1286 | 5 | c.601 others(22): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYNRG_chr17_37509807_37614418 | 37511937 | A | AGTTTT | downstream_gene_variant | MODIFIER | HG02129.hp1 NA18952.hp1 NA19085.hp2 |
a0001a0014 | a0001c0001a0014c0015 | a0001c0001t0001a0014c0015t0001 | a0001c0001t0001g0045 a0001c0001t0001g0075 a0014c0015t0001g0090 |
3 | 252 | 0.0119 | 5 | c.*70 others(16): Show |
SYNRG | ENSG00000275066.5 | transcript | ENST00000612223.5 | protein_coding | 2869 | chr17 | TogoVar | |||||||
SYNRG_chr17_37509807_37614418 | 37511938 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00544.hp1 others(113): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(22): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(112): Show |
116 | 163 | 0.7117 | 5 | c.*69 others(16): Show |
SYNRG | ENSG00000275066.5 | transcript | ENST00000612223.5 | protein_coding | 2868 | chr17 | TogoVar | |||||||
SYNRG_chr17_37509807_37614418 | 37607955 | C | CAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG01070.hp1 HG01074.hp1 others(30): Show |
a0002a0012 | a0002c0002a0002c0011a0012c0019 | a0002c0002t0001a0002c0002t0002a0002c0002t0005others(7): Show | a0002c0002t0001g0201 a0002c0002t0002g0010 a0002c0002t0002g0192 others(30): Show |
33 | 264 | 0.1250 | 5 | c.77+ others(20): Show |
SYNRG | ENSG00000275066.5 | transcript | ENST00000612223.5 | protein_coding | 1/21 | chr17 | TogoVar | |||||||
SYP_chrX_49182815_49205193 | 49190497 | T | TCTTTC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(151): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0010 others(40): Show |
154 | 296 | 0.5203 | 5 | c.*4+ others(18): Show |
SYP | ENSG00000102003.12 | transcript | ENST00000263233.9 | protein_coding | 6/6 | chrX | TogoVar | |||||||
SYT10_chr12_33369238_33444819 | 33387747 | G | GTTTTT | intron_variant | MODIFIER | HG00733.hp2 HG01069.hp1 HG01071.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0033 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0048 others(8): Show |
13 | 122 | 0.1066 | 5 | c.107 others(24): Show |
SYT10 | ENSG00000110975.8 | transcript | ENST00000228567.7 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
SYT10_chr12_33369238_33444819 | 33392985 | T | TAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00735.hp2 HG00738.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0144 others(20): Show |
24 | 40 | 0.6000 | 5 | c.107 others(24): Show |
SYT10 | ENSG00000110975.8 | transcript | ENST00000228567.7 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
SYT10_chr12_33369238_33444819 | 33442737 | C | CCTTTT | upstream_gene_variant | MODIFIER | HG02132.hp1 HG03654.hp2 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 a0001c0001t0002g0175 a0001c0001t0002g0204 |
3 | 248 | 0.0121 | 5 | c.-32 others(16): Show |
SYT10 | ENSG00000110975.8 | transcript | ENST00000228567.7 | protein_coding | 2919 | chr12 | TogoVar | |||||||
SYT14_chr1_209933217_210176315 | 209970662 | C | CTTTTT | intron_variant | MODIFIER | HG02630.hp1 HG03942.hp2 NA18953.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0019a0001c0001t0021others(2): Show | a0001c0001t0009g0011 a0001c0001t0019g0024 a0001c0001t0021g0022 others(4): Show |
7 | 27 | 0.2593 | 5 | c.61+ others(22): Show |
SYT14 | ENSG00000143469.21 | transcript | ENST00000367019.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SYT14_chr1_209933217_210176315 | 210000610 | C | CTTTTT | intron_variant | MODIFIER | HG00621.hp2 HG02074.hp2 NA18954.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014 | a0001c0001t0004g0196 a0001c0001t0014g0207 a0001c0001t0014g0208 others(2): Show |
5 | 323 | 0.0155 | 5 | c.62- others(22): Show |
SYT14 | ENSG00000143469.21 | transcript | ENST00000367019.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SYT14_chr1_209933217_210176315 | 210019131 | C | CAAAAA | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG00621.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 others(20): Show |
23 | 118 | 0.1949 | 5 | c.227 others(22): Show |
SYT14 | ENSG00000143469.21 | transcript | ENST00000367019.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SYT14_chr1_209933217_210176315 | 210030908 | G | GTTTGT | intron_variant | MODIFIER | HG00609.hp1 HG01175.hp1 HG01928.hp2 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0009others(22): Show | a0001c0001t0002g0035 a0001c0001t0002g0109 a0001c0001t0007g0060 others(47): Show |
50 | 148 | 0.3378 | 5 | c.442 others(22): Show |
SYT14 | ENSG00000143469.21 | transcript | ENST00000367019.6 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SYT14_chr1_209933217_210176315 | 210030943 | T | TTTTGC | intron_variant | MODIFIER | HG01109.hp1 HG02109.hp2 HG02723.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0029 | a0001c0001t0020g0231 a0001c0001t0020g0232 a0001c0001t0020g0233 others(5): Show |
8 | 356 | 0.0225 | 5 | c.442 others(22): Show |
SYT14 | ENSG00000143469.21 | transcript | ENST00000367019.6 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SYT14_chr1_209933217_210176315 | 210038076 | C | CTTCTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00423.hp1 others(241): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(73): Show | a0001c0001t0001g0239 a0001c0001t0001g0243 a0001c0001t0001g0244 others(241): Show |
244 | 356 | 0.6854 | 5 | c.442 others(24): Show |
SYT14 | ENSG00000143469.21 | transcript | ENST00000367019.6 | protein_coding | 4/8 | chr1 | TogoVar | |||||||
SYT14_chr1_209933217_210176315 | 210052665 | C | CAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG01099.hp2 others(43): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0002g0219 a0001c0001t0003g0117 a0001c0001t0003g0183 others(43): Show |
46 | 158 | 0.2911 | 5 | c.442 others(24): Show |
SYT14 | ENSG00000143469.21 | transcript | ENST00000367019.6 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SYT14_chr1_209933217_210176315 | 210156683 | C | CTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG01243.hp1 HG01258.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0016a0001c0001t0027 | a0001c0001t0010g0078 a0001c0001t0010g0093 a0001c0001t0010g0100 others(3): Show |
6 | 95 | 0.0632 | 5 | c.135 others(22): Show |
SYT14 | ENSG00000143469.21 | transcript | ENST00000367019.6 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SYT14_chr1_209933217_210176315 | 210171895 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG03831.hp1 HG03942.hp1 NA18612.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014a0001c0001t0032others(1): Show | a0001c0001t0004g0198 a0001c0001t0004g0220 a0001c0001t0014g0187 others(3): Show |
6 | 75 | 0.0800 | 5 | c.*10 others(18): Show |
SYT14 | ENSG00000143469.21 | transcript | ENST00000367019.6 | protein_coding | 581 | chr1 | TogoVar | |||||||
SYT16_chr14_61807703_62117550 | 61823627 | C | CTGTAA | intron_variant | MODIFIER | HG01496.hp2 HG02280.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0025 | a0001c0001t0005g0002 a0001c0002t0025g0003 |
2 | 172 | 0.0116 | 5 | c.-32 others(26): Show |
SYT16 | ENSG00000139973.18 | transcript | ENST00000683842.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYT16_chr14_61807703_62117550 | 61947311 | T | TGTGTG | intron_variant | MODIFIER | NA19077.hp2 NA20752.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0008 | a0001c0001t0001g0078 a0002c0003t0008g0015 |
2 | 169 | 0.0118 | 5 | c.-32 others(26): Show |
SYT16 | ENSG00000139973.18 | transcript | ENST00000683842.1 | protein_coding | 1/7 | chr14 | TogoVar | |||||||
SYT16_chr14_61807703_62117550 | 62000099 | A | ATTTTT | intron_variant | MODIFIER | HG00438.hp1 HG00735.hp2 HG00741.hp1 others(31): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0003a0004c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0001g0088 a0001c0001t0003g0063 a0001c0001t0003g0110 others(31): Show |
34 | 61 | 0.5574 | 5 | c.523 others(22): Show |
SYT16 | ENSG00000139973.18 | transcript | ENST00000683842.1 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYT16_chr14_61807703_62117550 | 62116605 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00735.hp2 others(15): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(14): Show | a0001c0001t0002g0087 a0001c0001t0002g0112 a0001c0001t0004g0162 others(15): Show |
18 | 31 | 0.5806 | 5 | c.*15 others(18): Show |
SYT16 | ENSG00000139973.18 | transcript | ENST00000683842.1 | protein_coding | 4056 | chr14 | TogoVar | |||||||
SYT17_chr16_19163240_19273332 | 19163855 | T | TAATGA | upstream_gene_variant | MODIFIER | HG02451.hp1 HG02809.hp1 HG03130.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0021a0001c0001t0022a0001c0002t0015others(1): Show | a0001c0001t0021g0315 a0001c0001t0022g0316 a0001c0002t0015g0314 others(1): Show |
4 | 322 | 0.0124 | 5 | c.-47 others(16): Show |
SYT17 | ENSG00000103528.17 | transcript | ENST00000355377.7 | protein_coding | 4384 | chr16 | TogoVar | |||||||
SYT17_chr16_19163240_19273332 | 19167517 | A | AAAAAT | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG01071.hp2 others(74): Show |
a0001 | a0001c0001a0001c0002a0001c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 others(74): Show |
77 | 150 | 0.5133 | 5 | c.-11 others(16): Show |
SYT17 | ENSG00000103528.17 | transcript | ENST00000355377.7 | protein_coding | 722 | chr16 | TogoVar | |||||||
SYT17_chr16_19163240_19273332 | 19208884 | C | CTTTTT | intron_variant | MODIFIER | HG00735.hp2 HG01167.hp2 HG01168.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0130 others(13): Show |
16 | 144 | 0.1111 | 5 | c.952 others(24): Show |
SYT17 | ENSG00000103528.17 | transcript | ENST00000355377.7 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SYT17_chr16_19163240_19273332 | 19256437 | A | ACACAC | intron_variant | MODIFIER | HG01243.hp1 HG01496.hp2 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0053 | a0001c0001t0001g0082 a0001c0001t0001g0111 a0001c0001t0053g0035 |
3 | 13 | 0.2308 | 5 | c.122 others(26): Show |
SYT17 | ENSG00000103528.17 | transcript | ENST00000355377.7 | protein_coding | 7/7 | chr16 | TogoVar | |||||||
SYT17_chr16_19163240_19273332 | 19267107 | T | TAAAAA | 3_prime_UTR_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02280.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0015a0001c0001t0027a0001c0001t0028others(6): Show | a0001c0001t0015g0321 a0001c0001t0027g0299 a0001c0001t0028g0256 others(6): Show |
9 | 54 | 0.1667 | 5 | c.*43 others(12): Show |
SYT17 | ENSG00000103528.17 | transcript | ENST00000355377.7 | protein_coding | 8/8 | 48 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SYT1_chr12_78859774_79457008 | 78860329 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00621.hp1 HG00741.hp1 HG01255.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0050 others(14): Show |
17 | 56 | 0.3036 | 5 | c.-49 others(16): Show |
SYT1 | ENSG00000067715.15 | transcript | ENST00000261205.9 | protein_coding | 4444 | chr12 | TogoVar |