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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SYMPK_chr19_45810410_45868147 | 45843942 | CAAAAA | C | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00639.hp2 others(61): Show |
a0001a0002 | a0001c0004a0001c0007a0001c0010others(4): Show | a0001c0004t0001a0001c0004t0002a0001c0004t0003others(6): Show | a0001c0004t0001g0318 a0001c0004t0001g0320 a0001c0004t0001g0321 others(53): Show |
64 | 72 | 0.8889 | -5 | c.847 others(18): Show |
SYMPK | ENSG00000125755.19 | transcript | ENST00000245934.12 | protein_coding | 8/26 | chr19 | TogoVar | |||||||
SYN2_chr3_11999388_12197032 | 12031320 | AGGTGT | A | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG00733.hp1 others(36): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 others(36): Show |
39 | 262 | 0.1489 | -5 | c.377 others(24): Show |
SYN2 | ENSG00000157152.17 | transcript | ENST00000621198.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYN2_chr3_11999388_12197032 | 12039549 | ATTTTT | A | intron_variant | MODIFIER | HG01167.hp2 HG01255.hp2 HG01261.hp1 others(32): Show |
a0002a0007 | a0002c0002a0007c0009 | a0002c0002t0001a0007c0009t0002 | a0002c0002t0001g0052 a0002c0002t0001g0096 a0002c0002t0001g0097 others(32): Show |
35 | 49 | 0.7143 | -5 | c.377 others(24): Show |
SYN2 | ENSG00000157152.17 | transcript | ENST00000621198.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYN2_chr3_11999388_12197032 | 12045602 | ACTATG | A | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00558.hp2 others(100): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0002a0007c0009others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0013others(4): Show | a0001c0001t0001g0150 a0002c0002t0001g0003 a0002c0002t0001g0052 others(100): Show |
103 | 262 | 0.3931 | -5 | c.377 others(24): Show |
SYN2 | ENSG00000157152.17 | transcript | ENST00000621198.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYN2_chr3_11999388_12197032 | 12050711 | CTTTTT | C | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG01167.hp1 others(62): Show |
a0001a0003a0009 | a0001c0001a0003c0003a0009c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0211 a0001c0001t0002g0002 a0001c0001t0002g0004 others(61): Show |
65 | 68 | 0.9559 | -5 | c.377 others(24): Show |
SYN2 | ENSG00000157152.17 | transcript | ENST00000621198.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYN2_chr3_11999388_12197032 | 12085108 | TAAAAA | T | intron_variant | MODIFIER | HG02155.hp2 HG02630.hp2 HG02922.hp1 others(7): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0007 | a0001c0001t0002g0213 a0001c0001t0002g0222 a0001c0001t0002g0223 others(7): Show |
10 | 20 | 0.5000 | -5 | c.378 others(24): Show |
SYN2 | ENSG00000157152.17 | transcript | ENST00000621198.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYN2_chr3_11999388_12197032 | 12088363 | ACATCT | A | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00735.hp1 others(57): Show |
a0001a0003a0007others(2): Show | a0001c0001a0003c0003a0007c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(4): Show | a0001c0001t0001g0211 a0001c0001t0002g0004 a0001c0001t0002g0005 others(57): Show |
60 | 262 | 0.2290 | -5 | c.378 others(24): Show |
SYN2 | ENSG00000157152.17 | transcript | ENST00000621198.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYN2_chr3_11999388_12197032 | 12157092 | TAAAAC | T | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG00733.hp1 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 others(44): Show |
47 | 262 | 0.1794 | -5 | c.775 others(22): Show |
SYN2 | ENSG00000157152.17 | transcript | ENST00000621198.5 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 32504818 | CATTTT | C | downstream_gene_variant | MODIFIER | HG01070.hp2 HG03098.hp1 |
a0001 | a0001c0003 | a0001c0003t0049a0001c0003t0052 | a0001c0003t0049g0120 a0001c0003t0052g0104 |
2 | 184 | 0.0109 | -5 | c.*88 others(16): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 3001 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32572379 | CATCTT | C | intron_variant | MODIFIER | HG01099.hp1 HG01192.hp1 HG01496.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(17): Show | a0001c0001t0001g0097 a0001c0001t0003g0157 a0001c0001t0003g0169 others(20): Show |
23 | 180 | 0.1278 | -5 | c.774 others(24): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 7/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32576286 | TGTGCC | T | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp1 HG02970.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0020a0001c0001t0038a0002c0002t0004others(1): Show | a0001c0001t0020g0022 a0001c0001t0020g0156 a0001c0001t0038g0038 others(4): Show |
7 | 184 | 0.0380 | -5 | c.774 others(24): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 7/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32601928 | GCTTTT | G | intron_variant | MODIFIER | HG01358.hp2 HG01433.hp2 HG03927.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008a0001c0001t0029others(1): Show | a0001c0001t0007g0082 a0001c0001t0008g0134 a0001c0001t0029g0127 others(1): Show |
4 | 184 | 0.0217 | -5 | c.712 others(22): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32602438 | TTTTTG | T | intron_variant | MODIFIER | HG00673.hp1 NA18984.hp1 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0027 | a0001c0001t0002g0057 a0001c0001t0007g0079 a0001c0001t0027g0160 |
3 | 165 | 0.0182 | -5 | c.712 others(22): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32610565 | TTTTTG | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(96): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(55): Show | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0032 others(96): Show |
99 | 146 | 0.6781 | -5 | c.712 others(24): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32611279 | TTTTTG | T | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG01069.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0002g0018 others(5): Show |
8 | 184 | 0.0435 | -5 | c.712 others(24): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32621297 | CTTTTT | C | intron_variant | MODIFIER | HG01175.hp1 HG01496.hp2 HG01884.hp1 others(24): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0010others(21): Show | a0001c0001t0003g0039 a0001c0001t0003g0107 a0001c0001t0006g0138 others(24): Show |
27 | 91 | 0.2967 | -5 | c.712 others(24): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32636414 | AAAAAG | A | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG00741.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0001g0056 others(13): Show |
16 | 184 | 0.0870 | -5 | c.712 others(24): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32650260 | TCTCTC | T | intron_variant | MODIFIER | HG01496.hp2 HG02559.hp1 HG02970.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0008a0001c0001t0010a0001c0001t0011others(3): Show | a0001c0001t0008g0075 a0001c0001t0010g0183 a0001c0001t0011g0109 others(4): Show |
7 | 149 | 0.0470 | -5 | c.712 others(24): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32662261 | GTCTTA | G | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00673.hp2 others(79): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0008 a0001c0001t0001g0036 a0001c0001t0001g0097 others(79): Show |
82 | 184 | 0.4457 | -5 | c.712 others(24): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32724243 | CTGTTT | C | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00741.hp1 others(86): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0032 others(86): Show |
89 | 183 | 0.4863 | -5 | c.712 others(26): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32825657 | CAAAAA | C | intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01109.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0032 a0001c0001t0001g0179 a0001c0001t0002g0018 others(15): Show |
18 | 23 | 0.7826 | -5 | c.711 others(24): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32954099 | CAACAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00621.hp2 others(86): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(52): Show | a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0029 others(86): Show |
89 | 163 | 0.5460 | -5 | c.370 others(24): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 3/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 33008924 | CAAAAA | C | intron_variant | MODIFIER | HG01074.hp1 HG01099.hp2 HG01106.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(9): Show | a0001c0001t0001g0097 a0001c0001t0002g0007 a0001c0001t0007g0079 others(11): Show |
14 | 63 | 0.2222 | -5 | c.-16 others(24): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 1/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 33036678 | CTTTTT | C | intron_variant | MODIFIER | HG01978.hp1 HG02145.hp2 HG02738.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0025a0001c0001t0064others(2): Show | a0001c0001t0001g0033 a0001c0001t0025g0044 a0001c0001t0064g0080 others(2): Show |
5 | 43 | 0.1163 | -5 | c.-16 others(26): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 1/13 | chr22 | TogoVar | |||||||
SYNC_chr1_32674906_32707770 | 32698214 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(220): Show |
a0001a0006a0007others(1): Show | a0001c0001a0001c0006a0006c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(172): Show |
223 | 236 | 0.9449 | -5 | c.54- others(20): Show |
SYNC | ENSG00000162520.15 | transcript | ENST00000409190.8 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
SYNDIG1_chr20_24464629_24671616 | 24512107 | AAATAT | A | intron_variant | MODIFIER | HG00558.hp1 HG03927.hp1 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 a0001c0001t0001g0206 a0001c0001t0001g0217 |
3 | 266 | 0.0113 | -5 | c.-78 others(24): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SYNDIG1_chr20_24464629_24671616 | 24525286 | CTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(143): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(143): Show |
146 | 202 | 0.7228 | -5 | c.-78 others(24): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SYNE1_chr6_152116687_152173312 | 152173184 | TCTAAA | T | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG00621.hp2 others(112): Show |
a0001a0002a0003others(8): Show | a0001c0002a0001c0003a0001c0019others(17): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(28): Show | a0001c0002t0001g0262 a0001c0002t0002g0001 a0001c0002t0002g0124 others(107): Show |
115 | 434 | 0.2650 | -5 | c.-49 others(16): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000354674.5 | protein_coding | 4873 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152173184 | TCTAAA | T | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG01109.hp1 others(49): Show |
a0001a0002a0004others(43): Show | a0001c0138a0001c0140a0002c0056others(48): Show | a0001c0138t0006a0001c0140t0006a0002c0056t0005others(48): Show | a0001c0138t0006g0147 a0001c0140t0006g0152 a0002c0056t0005g0102 others(49): Show |
52 | 172 | 0.3023 | -5 | c.236 others(26): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 130/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152188957 | CAAAAA | C | intron_variant | MODIFIER | HG01106.hp1 HG01106.hp2 HG01167.hp1 others(3): Show |
a0001a0002a0005others(3): Show | a0001c0009a0002c0064a0005c0021others(3): Show | a0001c0009t0003a0002c0064t0002a0005c0021t0003others(3): Show | a0001c0009t0003g0022 a0002c0064t0002g0079 a0005c0021t0003g0082 others(3): Show |
6 | 157 | 0.0382 | -5 | c.233 others(24): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 128/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152253817 | GGTTTT | G | intron_variant | MODIFIER | HG00280.hp2 HG02257.hp1 HG03130.hp1 others(1): Show |
a0011a0028a0083others(1): Show | a0011c0137a0028c0135a0083c0027others(1): Show | a0011c0137t0009a0028c0135t0017a0083c0027t0002others(1): Show | a0011c0137t0009g0150 a0028c0135t0017g0154 a0083c0027t0002g0005 others(1): Show |
4 | 63 | 0.0635 | -5 | c.194 others(26): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 104/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152371845 | CAGGAA | C | intron_variant | MODIFIER | HG01106.hp2 HG02559.hp1 NA18950.hp2 others(2): Show |
a0038a0060a0104others(2): Show | a0038c0084a0060c0028a0104c0159others(2): Show | a0038c0084t0004a0060c0028t0001a0104c0159t0010others(2): Show | a0038c0084t0004g0042 a0060c0028t0001g0072 a0104c0159t0010g0135 others(2): Show |
5 | 94 | 0.0532 | -5 | c.950 others(24): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 59/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152371920 | AAGGAC | A | intron_variant | MODIFIER | HG02257.hp2 HG02630.hp2 HG02723.hp2 |
a0056a0066a0070 | a0056c0072a0066c0071a0070c0025 | a0056c0072t0002a0066c0071t0002a0070c0025t0001 | a0056c0072t0002g0015 a0066c0071t0002g0006 a0070c0025t0001g0057 |
3 | 159 | 0.0189 | -5 | c.950 others(24): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 59/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152373677 | CTACTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(71): Show |
a0001a0002a0003others(49): Show | a0001c0009a0001c0144a0001c0150others(69): Show | a0001c0009t0001a0001c0009t0003a0001c0144t0006others(70): Show | a0001c0009t0001g0065 a0001c0009t0003g0022 a0001c0144t0006g0145 others(71): Show |
74 | 172 | 0.4302 | -5 | c.932 others(22): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 58/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152374922 | ATTATT | A | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG01346.hp1 others(9): Show |
a0007a0018a0031others(8): Show | a0007c0083a0018c0032a0018c0033others(9): Show | a0007c0083t0006a0018c0032t0006a0018c0033t0010others(9): Show | a0007c0083t0006g0156 a0018c0032t0006g0173 a0018c0033t0010g0139 others(9): Show |
12 | 134 | 0.0896 | -5 | c.932 others(24): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 58/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152404335 | TAACTA | T | intron_variant | MODIFIER | HG01928.hp1 HG02080.hp2 HG02083.hp2 others(9): Show |
a0002a0004a0007others(8): Show | a0002c0058a0004c0091a0007c0083others(9): Show | a0002c0058t0005a0004c0091t0001a0007c0083t0006others(9): Show | a0002c0058t0005g0100 a0004c0091t0001g0117 a0007c0083t0006g0156 others(9): Show |
12 | 172 | 0.0698 | -5 | c.672 others(20): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 45/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152414571 | AAGAAG | A | intron_variant | MODIFIER | HG01081.hp2 HG01167.hp1 HG01346.hp1 others(8): Show |
a0006a0037a0039others(7): Show | a0006c0023a0006c0024a0037c0039others(8): Show | a0006c0023t0005a0006c0024t0004a0037c0039t0002others(8): Show | a0006c0023t0005g0038 a0006c0024t0004g0056 a0037c0039t0002g0052 others(8): Show |
11 | 172 | 0.0640 | -5 | c.605 others(24): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 41/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152460799 | CTTTTT | C | intron_variant | MODIFIER | HG01261.hp2 HG02080.hp1 HG02258.hp2 others(13): Show |
a0002a0017a0020others(13): Show | a0002c0056a0017c0045a0020c0116others(13): Show | a0002c0056t0005a0017c0045t0007a0020c0116t0004others(13): Show | a0002c0056t0005g0102 a0017c0045t0007g0140 a0020c0116t0004g0020 others(13): Show |
16 | 39 | 0.4103 | -5 | c.239 others(22): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 21/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152567399 | TCCTAA | T | intron_variant | MODIFIER | HG02109.hp1 HG02809.hp1 HG02809.hp2 others(2): Show |
a0053a0071a0072others(2): Show | a0053c0069a0071c0016a0072c0077others(2): Show | a0053c0069t0004a0071c0016t0002a0072c0077t0013others(2): Show | a0053c0069t0004g0010 a0071c0016t0002g0014 a0072c0077t0013g0002 others(2): Show |
5 | 172 | 0.0291 | -5 | c.68- others(22): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 3/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152596266 | GTTTGT | G | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00621.hp2 others(27): Show |
a0001a0002a0005others(21): Show | a0001c0008a0001c0009a0001c0140others(26): Show | a0001c0008t0007a0001c0009t0001a0001c0140t0006others(26): Show | a0001c0008t0007g0151 a0001c0008t0007g0153 a0001c0009t0001g0065 others(27): Show |
30 | 160 | 0.1875 | -5 | c.67+ others(22): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 3/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152623936 | GTTTTC | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(99): Show |
a0001a0002a0003others(76): Show | a0001c0008a0001c0009a0001c0138others(93): Show | a0001c0008t0007a0001c0009t0001a0001c0138t0006others(95): Show | a0001c0008t0007g0151 a0001c0008t0007g0153 a0001c0009t0001g0065 others(99): Show |
102 | 172 | 0.5930 | -5 | c.67+ others(20): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 3/145 | chr6 | TogoVar | |||||||
SYNE2_chr14_63848004_64231433 | 63858262 | CTTTTT | C | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG01074.hp1 others(44): Show |
a0001a0002a0003others(24): Show | a0001c0004a0001c0005a0001c0009others(32): Show | a0001c0004t0004a0001c0005t0001a0001c0009t0002others(35): Show | a0001c0004t0004g0104 a0001c0004t0004g0127 a0001c0005t0001g0110 others(44): Show |
47 | 74 | 0.6351 | -5 | c.-52 others(22): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 1/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 63943673 | TTATTA | T | intron_variant | MODIFIER | HG01884.hp2 HG02622.hp1 HG02717.hp1 others(3): Show |
a0018a0033a0042others(2): Show | a0018c0095a0018c0096a0033c0097others(3): Show | a0018c0095t0001a0018c0096t0002a0033c0097t0005others(3): Show | a0018c0095t0001g0003 a0018c0096t0002g0004 a0033c0097t0005g0147 others(3): Show |
6 | 148 | 0.0405 | -5 | c.408 others(22): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 6/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 63946649 | GATATA | G | intron_variant | MODIFIER | HG00423.hp1 HG00741.hp1 HG01109.hp2 others(40): Show |
a0001a0003a0005others(19): Show | a0001c0025a0003c0002a0003c0015others(23): Show | a0001c0025t0002a0003c0002t0001a0003c0002t0006others(26): Show | a0001c0025t0002g0084 a0003c0002t0001g0005 a0003c0002t0001g0006 others(40): Show |
43 | 148 | 0.2905 | -5 | c.409 others(22): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 6/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64023701 | ATTACT | A | intron_variant | MODIFIER | HG02145.hp1 HG02970.hp1 HG03041.hp2 others(2): Show |
a0010a0039a0061 | a0010c0006a0039c0075a0061c0033 | a0010c0006t0006a0039c0075t0001a0061c0033t0002 | a0010c0006t0006g0037 a0010c0006t0006g0039 a0010c0006t0006g0058 others(2): Show |
5 | 148 | 0.0338 | -5 | c.563 others(22): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 38/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64100532 | ATATAT | A | intron_variant | MODIFIER | HG02145.hp2 HG03130.hp2 NA18980.hp2 others(1): Show |
a0003a0020a0064others(1): Show | a0003c0002a0020c0048a0064c0044others(1): Show | a0003c0002t0006a0020c0048t0001a0064c0044t0003others(1): Show | a0003c0002t0006g0093 a0020c0048t0001g0043 a0064c0044t0003g0121 others(1): Show |
4 | 115 | 0.0348 | -5 | c.123 others(26): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 63/115 | chr14 | TogoVar | |||||||
SYNE2_chr14_63848004_64231433 | 64138200 | TTTTTC | T | intron_variant | MODIFIER | HG00738.hp1 HG01496.hp1 HG02257.hp1 others(6): Show |
a0002a0008a0028others(3): Show | a0002c0001a0008c0011a0028c0081others(3): Show | a0002c0001t0003a0008c0011t0004a0008c0011t0008others(4): Show | a0002c0001t0003g0118 a0002c0001t0003g0119 a0008c0011t0004g0029 others(6): Show |
9 | 148 | 0.0608 | -5 | c.148 others(24): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 79/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64138944 | ATGGTG | A | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02145.hp1 others(7): Show |
a0007a0010a0018others(3): Show | a0007c0007a0010c0006a0018c0095others(3): Show | a0007c0007t0001a0010c0006t0006a0018c0095t0001others(3): Show | a0007c0007t0001g0143 a0007c0007t0001g0144 a0007c0007t0001g0145 others(7): Show |
10 | 148 | 0.0676 | -5 | c.148 others(24): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 79/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64153777 | TAAATG | T | intron_variant | MODIFIER | HG00738.hp1 HG02257.hp1 HG02809.hp1 others(3): Show |
a0008a0028a0067others(1): Show | a0008c0011a0028c0081a0067c0028others(1): Show | a0008c0011t0004a0008c0011t0008a0028c0081t0004others(2): Show | a0008c0011t0004g0029 a0008c0011t0004g0055 a0008c0011t0008g0054 others(3): Show |
6 | 148 | 0.0405 | -5 | c.157 others(26): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 85/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE3_chr14_95402266_95521650 | 95457133 | ACTGTC | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(162): Show |
a0001a0002a0003others(19): Show | a0001c0021a0001c0058a0001c0062others(39): Show | a0001c0021t0022a0001c0021t0102a0001c0058t0010others(129): Show | a0001c0021t0022g0305 a0001c0021t0022g0306 a0001c0021t0022g0307 others(161): Show |
165 | 382 | 0.4319 | -5 | c.789 others(18): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 5/17 | chr14 | TogoVar |