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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SYN3_chr22_32502820_33063381 | 32813486 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG01192.hp2 HG02257.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0065others(3): Show | a0001c0001t0001g0032 a0001c0001t0001g0048 a0001c0001t0001g0179 others(5): Show |
8 | 184 | 0.0435 | -12 | c.711 others(31): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32820009 | CAGGGCCT others(5): Show |
C | intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0079 | 1 | 184 | 0.0054 | -12 | c.711 others(31): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32962801 | CATCTATC others(5): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG03041.hp1 HG03195.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(3): Show | a0001c0001t0002g0182 a0001c0001t0009g0067 a0001c0001t0010g0087 others(3): Show |
6 | 184 | 0.0326 | -12 | c.369 others(31): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 3/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32988307 | AAATAATA others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00621.hp2 HG01069.hp1 others(33): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0032 others(33): Show |
36 | 184 | 0.1957 | -12 | c.312 others(29): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 2/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32990407 | GCCATCCA others(5): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00673.hp2 others(42): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0033 a0001c0001t0001g0051 a0001c0001t0001g0113 others(42): Show |
45 | 184 | 0.2446 | -12 | c.312 others(29): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 2/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 33009751 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00673.hp2 others(27): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0033 a0001c0001t0001g0051 a0001c0001t0002g0014 others(27): Show |
30 | 184 | 0.1630 | -12 | c.-16 others(31): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 1/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 33028679 | GTGGTGGT others(5): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02257.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0016a0001c0001t0018others(5): Show | a0001c0001t0001g0097 a0001c0001t0016g0145 a0001c0001t0018g0106 others(5): Show |
8 | 184 | 0.0435 | -12 | c.-16 others(33): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 1/13 | chr22 | TogoVar | |||||||
SYNC_chr1_32674906_32707770 | 32678567 | CTTTTTTT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00733.hp2 HG02451.hp2 HG02717.hp1 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0014a0003c0003t0015a0003c0003t0024others(1): Show | a0003c0003t0014g0048 a0003c0003t0015g0043 a0003c0003t0015g0047 others(2): Show |
5 | 318 | 0.0157 | -12 | c.*32 others(23): Show |
SYNC | ENSG00000162520.15 | transcript | ENST00000409190.8 | protein_coding | 1338 | chr1 | TogoVar | |||||||
SYNC_chr1_32674906_32707770 | 32689235 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01192.hp1 HG01884.hp1 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(2): Show | a0001c0001t0001g0113 a0001c0001t0005g0002 a0001c0001t0005g0034 others(14): Show |
26 | 318 | 0.0818 | -12 | c.123 others(31): Show |
SYNC | ENSG00000162520.15 | transcript | ENST00000409190.8 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
SYNDIG1_chr20_24464629_24671616 | 24467771 | ATGTGTGT others(5): Show |
A | upstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 270 | 0.0037 | -12 | c.-20 others(23): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1857 | chr20 | TogoVar | |||||||
SYNDIG1_chr20_24464629_24671616 | 24500474 | TTTTCTTT others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00597.hp2 others(53): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0021 others(53): Show |
56 | 270 | 0.2074 | -12 | c.-79 others(31): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SYNDIG1_chr20_24464629_24671616 | 24512108 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00544.hp1 others(83): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0013 others(83): Show |
86 | 270 | 0.3185 | -12 | c.-78 others(31): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SYNDIG1_chr20_24464629_24671616 | 24560063 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00423.hp2 others(74): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 others(74): Show |
77 | 270 | 0.2852 | -12 | c.480 others(31): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SYNDIG1_chr20_24464629_24671616 | 24627150 | GGAGAGCG others(5): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG02922.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0053 a0001c0001t0004g0167 a0001c0001t0004g0233 |
3 | 270 | 0.0111 | -12 | c.619 others(31): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SYNDIG1_chr20_24464629_24671616 | 24640473 | AGAAGGAA others(5): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(37): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(2): Show | a0001c0001t0001g0021 a0001c0001t0001g0042 a0001c0001t0001g0044 others(37): Show |
40 | 270 | 0.1482 | -12 | c.619 others(31): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SYNE1_chr6_152116687_152173312 | 152138512 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02258.hp2 others(7): Show |
a0001a0003a0006 | a0001c0002a0001c0003a0001c0025others(2): Show | a0001c0002t0003a0001c0002t0005a0001c0003t0005others(3): Show | a0001c0002t0003g0076 a0001c0002t0003g0258 a0001c0002t0005g0115 others(7): Show |
10 | 436 | 0.0229 | -12 | c.199 others(31): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000354674.5 | protein_coding | 12/17 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152173312 | 152139717 | AAAAGAAA others(5): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02258.hp1 others(5): Show |
a0001a0003 | a0001c0002a0003c0022 | a0001c0002t0004a0001c0002t0005a0003c0022t0007 | a0001c0002t0004g0111 a0001c0002t0005g0115 a0001c0002t0005g0135 others(5): Show |
8 | 436 | 0.0184 | -12 | c.199 others(29): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000354674.5 | protein_coding | 12/17 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152173312 | 152154445 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG03516.hp1 |
a0003 | a0003c0022 | a0003c0022t0007 | a0003c0022t0007g0250 a0003c0022t0007g0257 a0003c0022t0007g0400 |
3 | 436 | 0.0069 | -12 | c.594 others(27): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000354674.5 | protein_coding | 4/17 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152138512 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02258.hp2 others(5): Show |
a0054a0058a0059others(5): Show | a0054c0068a0058c0117a0059c0101others(5): Show | a0054c0068t0004a0058c0117t0004a0059c0101t0004others(5): Show | a0054c0068t0004g0010 a0058c0117t0004g0009 a0059c0101t0004g0085 others(5): Show |
8 | 174 | 0.0460 | -12 | c.254 others(33): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 140/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152139717 | AAAAGAAA others(5): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02258.hp1 others(3): Show |
a0004a0054a0055others(3): Show | a0004c0096a0054c0068a0055c0165others(3): Show | a0004c0096t0002a0054c0068t0004a0055c0165t0018others(3): Show | a0004c0096t0002g0072 a0054c0068t0004g0010 a0055c0165t0018g0174 others(3): Show |
6 | 174 | 0.0345 | -12 | c.254 others(31): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 140/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152154445 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG03516.hp1 |
a0055a0095 | a0055c0165a0095c0158 | a0055c0165t0018a0095c0158t0015 | a0055c0165t0018g0174 a0095c0158t0015g0007 |
2 | 174 | 0.0115 | -12 | c.241 others(31): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 133/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152179673 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | NA19066.hp1 | a0120 | a0120c0045 | a0120c0045t0007 | a0120c0045t0007g0161 | 1 | 174 | 0.0058 | -12 | c.234 others(31): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 129/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152184437 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02723.hp1 HG02897.hp1 |
a0070a0075 | a0070c0102a0075c0051 | a0070c0102t0005a0075c0051t0001 | a0070c0102t0005g0094 a0075c0051t0001g0068 |
2 | 174 | 0.0115 | -12 | c.233 others(33): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 128/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152184631 | TATAGATA others(5): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG03516.hp1 NA19087.hp1 |
a0023a0029a0095 | a0023c0122a0029c0054a0095c0158 | a0023c0122t0007a0029c0054t0007a0095c0158t0015 | a0023c0122t0007g0137 a0029c0054t0007g0132 a0095c0158t0015g0007 |
3 | 174 | 0.0172 | -12 | c.233 others(33): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 128/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152186556 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00544.hp2 others(51): Show |
a0001a0002a0005others(41): Show | a0001c0007a0001c0008a0001c0139others(47): Show | a0001c0007t0007a0001c0008t0003a0001c0139t0006others(48): Show | a0001c0007t0007g0150 a0001c0007t0007g0152 a0001c0008t0003g0022 others(51): Show |
54 | 174 | 0.3103 | -12 | c.233 others(33): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 128/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152188976 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG02559.hp1 | a0061 | a0061c0027 | a0061c0027t0001 | a0061c0027t0001g0071 | 1 | 174 | 0.0058 | -12 | c.233 others(31): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 128/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152188978 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG01109.hp2 HG01346.hp1 others(3): Show |
a0006a0015a0028others(3): Show | a0006c0022a0015c0005a0028c0135others(3): Show | a0006c0022t0005a0015c0005t0008a0028c0135t0017others(3): Show | a0006c0022t0005g0038 a0015c0005t0008g0165 a0028c0135t0017g0153 others(3): Show |
6 | 174 | 0.0345 | -12 | c.233 others(31): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 128/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152253813 | GTTTGGTT others(5): Show |
G | intron_variant | MODIFIER | HG03130.hp2 | a0085 | a0085c0086 | a0085c0086t0004 | a0085c0086t0004g0073 | 1 | 174 | 0.0058 | -12 | c.194 others(33): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 104/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152256431 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG02976.hp1 | a0079 | a0079c0111 | a0079c0111t0001 | a0079c0111t0001g0095 | 1 | 174 | 0.0058 | -12 | c.191 others(31): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 102/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152297812 | TGTGTGTG others(5): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG02723.hp1 HG03041.hp1 others(2): Show |
a0065a0070a0081others(2): Show | a0065c0037a0070c0102a0081c0049others(2): Show | a0065c0037t0001a0070c0102t0005a0081c0049t0002others(2): Show | a0065c0037t0001g0119 a0070c0102t0005g0094 a0081c0049t0002g0036 others(2): Show |
5 | 174 | 0.0287 | -12 | c.176 others(33): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 93/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152297814 | TGTGTGTG others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00738.hp2 others(17): Show |
a0001a0004a0005others(12): Show | a0001c0007a0001c0141a0001c0145others(15): Show | a0001c0007t0007a0001c0141t0006a0001c0145t0006others(15): Show | a0001c0007t0007g0150 a0001c0007t0007g0152 a0001c0141t0006g0151 others(17): Show |
20 | 174 | 0.1149 | -12 | c.176 others(33): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 93/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152313385 | AGCCCCTA others(5): Show |
A | intron_variant | MODIFIER | HG03139.hp1 | a0086 | a0086c0098 | a0086c0098t0004 | a0086c0098t0004g0012 | 1 | 174 | 0.0058 | -12 | c.167 others(33): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 87/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152328380 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01167.hp2 HG01261.hp1 others(10): Show |
a0001a0002a0005others(10): Show | a0001c0151a0002c0065a0005c0020others(10): Show | a0001c0151t0006a0002c0065t0001a0005c0020t0003others(10): Show | a0001c0151t0006g0125 a0002c0065t0001g0087 a0005c0020t0003g0082 others(10): Show |
13 | 174 | 0.0747 | -12 | c.149 others(33): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 78/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152363497 | CTAAATAA others(5): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01192.hp2 HG01261.hp2 others(3): Show |
a0015a0041a0052others(2): Show | a0015c0005a0041c0094a0052c0043others(2): Show | a0015c0005t0008a0041c0094t0008a0052c0043t0003others(2): Show | a0015c0005t0008g0165 a0015c0005t0008g0170 a0041c0094t0008g0120 others(3): Show |
6 | 174 | 0.0345 | -12 | c.101 others(33): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 63/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152377632 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG03225.hp1 |
a0005a0088 | a0005c0018a0088c0142 | a0005c0018t0001a0088c0142t0001 | a0005c0018t0001g0033 a0088c0142t0001g0114 |
2 | 174 | 0.0115 | -12 | c.901 others(29): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 56/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152421671 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG01496.hp2 HG02622.hp1 HG02630.hp1 others(5): Show |
a0020a0044a0064others(5): Show | a0020c0072a0044c0073a0064c0014others(5): Show | a0020c0072t0001a0044c0073t0001a0064c0014t0005others(5): Show | a0020c0072t0001g0086 a0044c0073t0001g0074 a0064c0014t0005g0090 others(5): Show |
8 | 174 | 0.0460 | -12 | c.526 others(31): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 39/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152448841 | AAAACAAA others(5): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02559.hp2 HG02723.hp1 others(1): Show |
a0059a0062a0070others(1): Show | a0059c0101a0062c0103a0070c0102others(1): Show | a0059c0101t0004a0062c0103t0004a0070c0102t0005others(1): Show | a0059c0101t0004g0085 a0062c0103t0004g0092 a0070c0102t0005g0094 others(1): Show |
4 | 174 | 0.0230 | -12 | c.350 others(29): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 28/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152451468 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0055 | a0055c0165 | a0055c0165t0018 | a0055c0165t0018g0174 | 1 | 174 | 0.0058 | -12 | c.302 others(29): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 25/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152558976 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG02258.hp1 HG02622.hp2 others(1): Show |
a0020a0037a0058others(1): Show | a0020c0069a0037c0038a0058c0117others(1): Show | a0020c0069t0014a0037c0038t0002a0058c0117t0004others(1): Show | a0020c0069t0014g0003 a0037c0038t0002g0052 a0058c0117t0004g0009 others(1): Show |
4 | 174 | 0.0230 | -12 | c.68- others(29): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 3/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152604944 | CAAAGAAA others(5): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG01071.hp2 HG01496.hp1 others(7): Show |
a0001a0003a0007others(6): Show | a0001c0007a0003c0144a0003c0148others(7): Show | a0001c0007t0007a0003c0144t0009a0003c0148t0009others(7): Show | a0001c0007t0007g0152 a0003c0144t0009g0126 a0003c0148t0009g0121 others(7): Show |
10 | 174 | 0.0575 | -12 | c.67+ others(29): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 3/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152605064 | GGGAGGGA others(5): Show |
G | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0128 | a0128c0161 | a0128c0161t0001 | a0128c0161t0001g0075 | 1 | 174 | 0.0058 | -12 | c.67+ others(29): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 3/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152605076 | AGAAGGAA others(5): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG01981.hp2 HG02083.hp2 others(5): Show |
a0002a0018a0019others(5): Show | a0002c0057a0018c0004a0019c0060others(5): Show | a0002c0057t0005a0018c0004t0006a0019c0060t0007others(5): Show | a0002c0057t0005g0100 a0018c0004t0006g0160 a0019c0060t0007g0133 others(5): Show |
8 | 174 | 0.0460 | -12 | c.67+ others(29): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 3/145 | chr6 | TogoVar | |||||||
SYNE2_chr14_63848004_64231433 | 63889046 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG00735.hp2 others(31): Show |
a0001a0002a0005others(13): Show | a0001c0004a0001c0005a0001c0009others(20): Show | a0001c0004t0003a0001c0004t0004a0001c0005t0001others(22): Show | a0001c0004t0003g0132 a0001c0004t0004g0105 a0001c0004t0004g0127 others(31): Show |
34 | 150 | 0.2267 | -12 | c.-51 others(31): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 1/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 63924832 | GTGTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG04184.hp1 NA18975.hp2 |
a0012a0023 | a0012c0008a0023c0088 | a0012c0008t0002a0023c0088t0001 | a0012c0008t0002g0095 a0023c0088t0001g0017 |
2 | 150 | 0.0133 | -12 | c.79+ others(29): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 2/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 63944278 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01496.hp1 HG01884.hp2 others(3): Show |
a0001a0002a0018others(2): Show | a0001c0009a0002c0001a0018c0095others(3): Show | a0001c0009t0003a0002c0001t0002a0018c0095t0001others(3): Show | a0001c0009t0003g0131 a0002c0001t0002g0120 a0018c0095t0001g0003 others(3): Show |
6 | 150 | 0.0400 | -12 | c.408 others(29): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 6/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 63944824 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02572.hp2 | a0005 | a0005c0013 | a0005c0013t0001 | a0005c0013t0001g0139 | 1 | 150 | 0.0067 | -12 | c.408 others(29): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 6/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 63948782 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG03130.hp1 | a0016 | a0016c0014 | a0016c0014t0001 | a0016c0014t0001g0099 | 1 | 150 | 0.0067 | -12 | c.409 others(29): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 6/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 63953535 | GAGAGAGA others(5): Show |
G | intron_variant | MODIFIER | NA18906.hp2 | a0061 | a0061c0033 | a0061c0033t0003 | a0061c0033t0003g0075 | 1 | 150 | 0.0067 | -12 | c.591 others(29): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 7/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 63974851 | CATGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG03041.hp2 NA18980.hp1 |
a0003a0010 | a0003c0015a0010c0006 | a0003c0015t0003a0010c0006t0006 | a0003c0015t0003g0011 a0010c0006t0006g0037 |
2 | 150 | 0.0133 | -12 | c.112 others(31): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 11/115 | chr14 | TogoVar | |||||||
SYNE2_chr14_63848004_64231433 | 63974892 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG02809.hp2 | a0044 | a0044c0090 | a0044c0090t0001 | a0044c0090t0001g0002 | 1 | 150 | 0.0067 | -12 | c.112 others(31): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 11/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |