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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SVOPL_chr7_138589285_138706362 | 138686153 | AGCACTTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(55): Show |
a0001a0002a0006 | a0001c0001a0001c0005a0001c0014others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0011 a0001c0001t0001g0060 a0001c0001t0001g0151 others(55): Show |
58 | 358 | 0.1620 | -7 | c.-34 others(24): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138697624 | AAAAAAAG | A | intron_variant | MODIFIER | HG00609.hp1 HG00733.hp1 HG01934.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0034 a0001c0001t0001g0089 a0001c0001t0001g0148 others(22): Show |
25 | 358 | 0.0698 | -7 | c.-35 others(24): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138701022 | GTGTGTGA | G | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG00733.hp1 others(35): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0011 others(35): Show |
38 | 358 | 0.1061 | -7 | c.-35 others(22): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
SVOP_chr12_108902741_109026068 | 108921080 | AAATAAAG | A | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG00741.hp1 others(48): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0012a0001c0001t0013a0001c0001t0014others(27): Show | a0001c0001t0012g0241 a0001c0001t0012g0242 a0001c0001t0012g0243 others(48): Show |
51 | 286 | 0.1783 | -7 | c.115 others(26): Show |
SVOP | ENSG00000166111.10 | transcript | ENST00000610966.5 | protein_coding | 12/15 | chr12 | TogoVar | |||||||
SVOP_chr12_108902741_109026068 | 108990685 | CAAAACAG | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(189): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(69): Show | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 others(187): Show |
192 | 286 | 0.6713 | -7 | c.36- others(22): Show |
SVOP | ENSG00000166111.10 | transcript | ENST00000610966.5 | protein_coding | 1/15 | chr12 | TogoVar | |||||||
SWAP70_chr11_9659077_9757993 | 9678543 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(52): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0007others(3): Show | a0001c0002t0011a0001c0002t0032a0001c0003t0003others(11): Show | a0001c0002t0011g0046 a0001c0002t0032g0067 a0001c0003t0003g0035 others(52): Show |
55 | 246 | 0.2236 | -7 | c.99+ others(24): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SWAP70_chr11_9659077_9757993 | 9714807 | ATTTTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(50): Show |
a0001a0002 | a0001c0008a0002c0001a0002c0005 | a0001c0008t0003a0001c0008t0009a0001c0008t0035others(9): Show | a0001c0008t0003g0053 a0001c0008t0009g0093 a0001c0008t0035g0056 others(50): Show |
53 | 141 | 0.3759 | -7 | c.414 others(24): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SWAP70_chr11_9659077_9757993 | 9725562 | TATATATA | T | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG01167.hp2 others(11): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0011others(1): Show | a0001c0002t0002a0001c0003t0003a0001c0011t0002others(1): Show | a0001c0002t0002g0130 a0001c0002t0002g0136 a0001c0002t0002g0156 others(11): Show |
14 | 290 | 0.0483 | -7 | c.642 others(22): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 4/11 | chr11 | TogoVar | |||||||
SWAP70_chr11_9659077_9757993 | 9725563 | ATATATAT | A | intron_variant | MODIFIER | HG00673.hp2 HG00733.hp1 HG00741.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0003 | a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0176 others(3): Show |
6 | 284 | 0.0211 | -7 | c.642 others(22): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SWAP70_chr11_9659077_9757993 | 9741846 | TCACCCAC | T | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00558.hp2 others(75): Show |
a0001a0003 | a0001c0003a0001c0008a0003c0010 | a0001c0003t0003a0001c0003t0004a0001c0003t0009others(10): Show | a0001c0003t0003g0001 a0001c0003t0003g0008 a0001c0003t0003g0015 others(74): Show |
78 | 292 | 0.2671 | -7 | c.135 others(26): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SWI5_chr9_128271276_128293989 | 128291978 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG01943.hp2 HG02293.hp1 HG03239.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(5): Show |
8 | 10 | 0.8000 | -7 | c.*32 others(18): Show |
SWI5 | ENSG00000175854.15 | transcript | ENST00000418976.3 | protein_coding | 2990 | chr9 | TogoVar | |||||||
SYCE3_chr22_50546112_50567919 | 50562324 | CGGGGTGA | C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp2 others(146): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(78): Show |
149 | 402 | 0.3706 | -7 | c.-1+ others(20): Show |
SYCE3 | ENSG00000217442.4 | transcript | ENST00000406915.4 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
SYCE3_chr22_50546112_50567919 | 50562524 | CGGGATGA | C | intron_variant | MODIFIER | HG00140.hp2 HG01884.hp2 HG01891.hp2 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0044 a0001c0001t0001g0172 a0002c0002t0001g0016 others(10): Show |
19 | 412 | 0.0461 | -7 | c.-1+ others(20): Show |
SYCE3 | ENSG00000217442.4 | transcript | ENST00000406915.4 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
SYCP1_chr1_114849863_115000370 | 114950843 | AGTCTCAC | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00544.hp2 others(148): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(148): Show |
151 | 310 | 0.4871 | -7 | c.232 others(26): Show |
SYCP1 | ENSG00000198765.12 | transcript | ENST00000369522.8 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SYCP2L_chr6_10882052_10979309 | 10884328 | GAAAAAAA | G | upstream_gene_variant | MODIFIER | HG02280.hp1 HG02622.hp1 HG02965.hp1 others(5): Show |
a0002 | a0002c0003a0002c0007a0002c0021 | a0002c0003t0001a0002c0003t0002a0002c0007t0001others(1): Show | a0002c0003t0001g0011 a0002c0003t0001g0013 a0002c0003t0002g0017 others(5): Show |
8 | 26 | 0.3077 | -7 | c.-27 others(18): Show |
SYCP2L | ENSG00000153157.14 | transcript | ENST00000283141.11 | protein_coding | 2723 | chr6 | TogoVar | |||||||
SYCP2L_chr6_10882052_10979309 | 10888066 | CTTTTTTT | C | intron_variant | MODIFIER | HG01361.hp1 HG01952.hp1 HG04199.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 others(3): Show |
6 | 8 | 0.7500 | -7 | c.9+9 others(18): Show |
SYCP2L | ENSG00000153157.14 | transcript | ENST00000283141.11 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYCP2L_chr6_10882052_10979309 | 10909116 | ATTTTTTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(94): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0013others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(6): Show | a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 others(94): Show |
97 | 114 | 0.8509 | -7 | c.820 others(24): Show |
SYCP2L | ENSG00000153157.14 | transcript | ENST00000283141.11 | protein_coding | 10/29 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYCP2L_chr6_10882052_10979309 | 10978299 | ATATATAT | A | downstream_gene_variant | MODIFIER | HG02818.hp2 HG03041.hp2 HG03195.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0034 others(4): Show |
7 | 329 | 0.0213 | -7 | c.*43 others(18): Show |
SYCP2L | ENSG00000153157.14 | transcript | ENST00000283141.11 | protein_coding | 3991 | chr6 | TogoVar | |||||||
SYCP2_chr20_59858571_59938637 | 59867014 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG01928.hp1 HG02145.hp1 others(14): Show |
a0001a0006 | a0001c0003a0006c0012 | a0001c0003t0001a0001c0003t0004a0006c0012t0001 | a0001c0003t0001g0002 a0001c0003t0001g0034 a0001c0003t0001g0035 others(12): Show |
17 | 209 | 0.0813 | -7 | c.412 others(24): Show |
SYCP2 | ENSG00000196074.13 | transcript | ENST00000357552.8 | protein_coding | 39/44 | chr20 | TogoVar | |||||||
SYCP2_chr20_59858571_59938637 | 59876369 | CAAAAAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp2 HG01123.hp1 others(4): Show |
a0001a0007 | a0001c0001a0007c0011 | a0001c0001t0001a0007c0011t0001 | a0001c0001t0001g0026 a0001c0001t0001g0055 a0001c0001t0001g0069 others(4): Show |
7 | 32 | 0.2188 | -7 | c.315 others(24): Show |
SYCP2 | ENSG00000196074.13 | transcript | ENST00000357552.8 | protein_coding | 33/44 | chr20 | TogoVar | |||||||
SYCP2_chr20_59858571_59938637 | 59889259 | AATGACTC | A | intron_variant | MODIFIER | HG01192.hp2 HG01256.hp1 HG01258.hp1 |
a0004 | a0004c0009 | a0004c0009t0003a0004c0009t0009 | a0004c0009t0003g0013 a0004c0009t0009g0263 |
3 | 274 | 0.0109 | -7 | c.236 others(26): Show |
SYCP2 | ENSG00000196074.13 | transcript | ENST00000357552.8 | protein_coding | 24/44 | chr20 | TogoVar | |||||||
SYDE2_chr1_85151889_85206016 | 85165865 | ATTTTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(121): Show |
a0001a0002a0011others(2): Show | a0001c0001a0002c0002a0002c0010others(4): Show | a0001c0001t0001a0002c0002t0001a0002c0010t0001others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(84): Show |
124 | 183 | 0.6776 | -7 | c.285 others(26): Show |
SYDE2 | ENSG00000097096.10 | transcript | ENST00000341460.6 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
SYMPK_chr19_45810410_45868147 | 45817417 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(136): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0004a0001c0001t0005a0001c0002t0003others(13): Show | a0001c0001t0004g0012 a0001c0001t0004g0046 a0001c0001t0004g0047 others(128): Show |
139 | 188 | 0.7394 | -7 | c.308 others(24): Show |
SYMPK | ENSG00000125755.19 | transcript | ENST00000245934.12 | protein_coding | 23/26 | chr19 | TogoVar | |||||||
SYMPK_chr19_45810410_45868147 | 45859953 | TAAAAAAA | T | intron_variant | MODIFIER | HG02280.hp1 HG02486.hp2 HG02559.hp2 others(5): Show |
a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0023 a0001c0005t0007g0351 a0001c0005t0007g0352 others(4): Show |
8 | 104 | 0.0769 | -7 | c.-13 others(24): Show |
SYMPK | ENSG00000125755.19 | transcript | ENST00000245934.12 | protein_coding | 1/26 | chr19 | TogoVar | |||||||
SYN1_chrX_47566901_47624857 | 47576240 | AGACAAAG | A | splice_region_variant others(1): Show |
LOW | HG00735.hp2 HG02717.hp1 HG02723.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0002 | a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0003t0002g0212 others(1): Show |
4 | 280 | 0.0143 | -7 | c.105 others(21): Show |
SYN1 | ENSG00000008056.14 | transcript | ENST00000295987.13 | protein_coding | 8/12 | chrX | TogoVar | |||||||
SYN2_chr3_11999388_12197032 | 12039549 | ATTTTTTT | A | intron_variant | MODIFIER | HG01192.hp2 HG02735.hp2 HG02818.hp2 others(4): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0002a0004c0004t0004 | a0001c0001t0002g0002 a0001c0001t0002g0051 a0004c0004t0004g0244 others(3): Show |
7 | 21 | 0.3333 | -7 | c.377 others(26): Show |
SYN2 | ENSG00000157152.17 | transcript | ENST00000621198.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 32597204 | CTTTTTTT | C | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02630.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0001c0001t0010a0001c0001t0014others(2): Show | a0001c0001t0009g0170 a0001c0001t0010g0166 a0001c0001t0014g0083 others(2): Show |
5 | 11 | 0.4545 | -7 | c.712 others(22): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32773406 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00673.hp1 HG01258.hp1 others(52): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0097 a0001c0001t0001g0117 a0001c0001t0002g0057 others(52): Show |
55 | 87 | 0.6322 | -7 | c.711 others(26): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32825657 | CAAAAAAA | C | intron_variant | MODIFIER | HG01074.hp1 HG01081.hp1 HG01106.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0013others(13): Show | a0001c0001t0001g0033 a0001c0001t0001g0086 a0001c0001t0001g0162 others(15): Show |
18 | 23 | 0.7826 | -7 | c.711 others(26): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32927263 | CTTTTTTT | C | intron_variant | MODIFIER | HG02258.hp1 HG02723.hp2 HG02818.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0032a0001c0001t0040a0001c0003t0004others(3): Show | a0001c0001t0032g0150 a0001c0001t0040g0153 a0001c0003t0004g0040 others(3): Show |
6 | 79 | 0.0759 | -7 | c.461 others(24): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 4/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32962129 | CTTTTTTT | C | intron_variant | MODIFIER | HG00738.hp1 HG01106.hp1 HG01884.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0033 a0001c0001t0001g0097 a0001c0001t0002g0014 others(22): Show |
25 | 145 | 0.1724 | -7 | c.369 others(26): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 3/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32995806 | GCATGCGC | G | intron_variant | MODIFIER | HG02055.hp1 HG03098.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0020a0001c0003t0052 | a0001c0001t0020g0156 a0001c0003t0052g0104 |
2 | 184 | 0.0109 | -7 | c.311 others(26): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 2/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 33008924 | CAAAAAAA | C | intron_variant | MODIFIER | HG00738.hp1 HG01071.hp1 HG02257.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(9): Show | a0001c0001t0001g0035 a0001c0001t0003g0016 a0001c0001t0003g0017 others(11): Show |
14 | 63 | 0.2222 | -7 | c.-16 others(26): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 1/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 33036678 | CTTTTTTT | C | intron_variant | MODIFIER | HG00673.hp1 HG00738.hp2 HG00741.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0056 a0001c0001t0002g0057 a0001c0001t0003g0151 others(6): Show |
9 | 47 | 0.1915 | -7 | c.-16 others(28): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 1/13 | chr22 | TogoVar | |||||||
SYNC_chr1_32674906_32707770 | 32678567 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG01175.hp2 HG02280.hp1 others(3): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0002a0005c0005t0007 | a0001c0001t0001g0078 a0001c0001t0001g0125 a0001c0001t0002g0011 others(3): Show |
6 | 9 | 0.6667 | -7 | c.*32 others(18): Show |
SYNC | ENSG00000162520.15 | transcript | ENST00000409190.8 | protein_coding | 1338 | chr1 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152226319 | TCACCTAC | T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(93): Show |
a0001a0002a0003others(66): Show | a0001c0008a0001c0009a0001c0140others(87): Show | a0001c0008t0007a0001c0009t0001a0001c0009t0003others(89): Show | a0001c0008t0007g0151 a0001c0008t0007g0153 a0001c0009t0001g0065 others(93): Show |
96 | 172 | 0.5581 | -7 | c.211 others(26): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 115/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152317216 | CTTTCTTT | C | intron_variant | MODIFIER | HG01175.hp1 HG01496.hp1 NA20905.hp2 |
a0007a0025 | a0007c0002a0025c0003 | a0007c0002t0003a0007c0002t0006a0025c0003t0004 | a0007c0002t0003g0081 a0007c0002t0006g0164 a0025c0003t0004g0032 |
3 | 172 | 0.0174 | -7 | c.165 others(26): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 86/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152377608 | TAAAAAAA | T | intron_variant | MODIFIER | HG00280.hp1 HG01106.hp2 HG01346.hp2 others(5): Show |
a0001a0024a0027others(5): Show | a0001c0138a0024c0126a0027c0161others(5): Show | a0001c0138t0006a0024c0126t0005a0027c0161t0008others(5): Show | a0001c0138t0006g0147 a0024c0126t0005g0110 a0027c0161t0008g0137 others(5): Show |
8 | 121 | 0.0661 | -7 | c.901 others(24): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 56/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152460799 | CTTTTTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00621.hp1 HG00738.hp1 others(42): Show |
a0002a0004a0006others(36): Show | a0002c0058a0002c0064a0004c0091others(40): Show | a0002c0058t0005a0002c0064t0002a0004c0091t0001others(41): Show | a0002c0058t0005g0100 a0002c0064t0002g0079 a0004c0091t0001g0117 others(42): Show |
45 | 68 | 0.6618 | -7 | c.239 others(24): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 21/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152541759 | AAAAAAAG | A | intron_variant | MODIFIER | HG00280.hp1 HG00621.hp1 HG01069.hp2 others(45): Show |
a0001a0002a0004others(36): Show | a0001c0138a0002c0058a0002c0064others(42): Show | a0001c0138t0006a0002c0058t0005a0002c0064t0002others(43): Show | a0001c0138t0006g0147 a0002c0058t0005g0100 a0002c0064t0002g0079 others(45): Show |
48 | 172 | 0.2791 | -7 | c.68- others(22): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 3/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152606976 | CTCTTTTT | C | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02572.hp2 others(3): Show |
a0004a0053a0062others(3): Show | a0004c0093a0053c0069a0062c0040others(3): Show | a0004c0093t0001a0053c0069t0004a0062c0040t0002others(3): Show | a0004c0093t0001g0028 a0053c0069t0004g0010 a0062c0040t0002g0025 others(3): Show |
6 | 151 | 0.0397 | -7 | c.67+ others(24): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 3/145 | chr6 | TogoVar | |||||||
SYNE2_chr14_63848004_64231433 | 64100532 | ATATATAT | A | intron_variant | MODIFIER | HG01884.hp1 HG02572.hp1 HG03130.hp1 others(1): Show |
a0014a0016a0050 | a0014c0071a0016c0014a0050c0082 | a0014c0071t0001a0016c0014t0001a0050c0082t0001 | a0014c0071t0001g0129 a0016c0014t0001g0098 a0016c0014t0001g0099 others(1): Show |
4 | 115 | 0.0348 | -7 | c.123 others(28): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 63/115 | chr14 | TogoVar | |||||||
SYNE2_chr14_63848004_64231433 | 64138939 | TATGTATG | T | intron_variant | MODIFIER | HG00438.hp2 HG02622.hp1 HG02622.hp2 |
a0006a0009a0018 | a0006c0010a0009c0079a0018c0096 | a0006c0010t0004a0009c0079t0002a0018c0096t0002 | a0006c0010t0004g0079 a0009c0079t0002g0087 a0018c0096t0002g0004 |
3 | 148 | 0.0203 | -7 | c.148 others(26): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 79/115 | chr14 | TogoVar | |||||||
SYNE2_chr14_63848004_64231433 | 64150291 | CAAAAAAA | C | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02717.hp2 others(5): Show |
a0010a0018a0033others(3): Show | a0010c0006a0018c0095a0033c0097others(3): Show | a0010c0006t0006a0018c0095t0001a0033c0097t0005others(3): Show | a0010c0006t0006g0037 a0010c0006t0006g0039 a0010c0006t0006g0058 others(5): Show |
8 | 88 | 0.0909 | -7 | c.156 others(28): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 84/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64205984 | CCCACAGA | C | intron_variant | MODIFIER | HG00735.hp1 HG01167.hp1 HG01993.hp2 others(2): Show |
a0004 | a0004c0003 | a0004c0003t0002a0004c0003t0003a0004c0003t0004 | a0004c0003t0002g0045 a0004c0003t0002g0051 a0004c0003t0002g0066 others(2): Show |
5 | 148 | 0.0338 | -7 | c.182 others(28): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 100/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE3_chr14_95402266_95521650 | 95479224 | CAAAAAAA | C | intron_variant | MODIFIER | HG02083.hp1 HG02280.hp2 HG02451.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0011a0001c0032others(3): Show | a0001c0001t0013a0001c0011t0024a0001c0032t0167others(3): Show | a0001c0001t0013g0147 a0001c0011t0024g0350 a0001c0032t0167g0343 others(3): Show |
6 | 107 | 0.0561 | -7 | c.-14 others(24): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 1/17 | chr14 | TogoVar | |||||||
SYNE3_chr14_95402266_95521650 | 95504822 | AAAAAAAG | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(198): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0011a0001c0019others(69): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(172): Show | a0001c0001t0001g0232 a0001c0001t0001g0261 a0001c0001t0001g0264 others(197): Show |
201 | 382 | 0.5262 | -7 | c.-15 others(26): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 1/17 | chr14 | TogoVar | |||||||
SYNE3_chr14_95402266_95521650 | 95516534 | GCCCGGCC | G | intron_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG00733.hp2 others(33): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0007others(16): Show | a0001c0001t0004a0001c0001t0011a0001c0001t0049others(32): Show | a0001c0001t0004g0021 a0001c0001t0011g0031 a0001c0001t0049g0023 others(33): Show |
36 | 303 | 0.1188 | -7 | c.-15 others(20): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 1/17 | chr14 | TogoVar | |||||||
SYNGAP1_chr6_33415065_33458689 | 33445819 | CTTTTTTT | C | intron_variant | MODIFIER | HG00544.hp2 HG00741.hp1 HG02622.hp1 others(6): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0001 | a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0075 others(3): Show |
9 | 254 | 0.0354 | -7 | c.358 others(24): Show |
SYNGAP1 | ENSG00000197283.18 | transcript | ENST00000646630.1 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYNGR1_chr22_39344991_39390575 | 39359630 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG01109.hp1 others(13): Show |
a0001 | a0001c0001a0001c0004a0001c0010 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0104 others(13): Show |
16 | 34 | 0.4706 | -7 | c.99+ others(22): Show |
SYNGR1 | ENSG00000100321.15 | transcript | ENST00000328933.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |