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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SV2C_chr5_76078383_76338956 | 76130145 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02895.hp1 HG03098.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0141a0001c0002t0103a0001c0007t0004others(2): Show | a0001c0001t0141g0013 a0001c0002t0103g0148 a0001c0007t0004g0076 others(3): Show |
6 | 29 | 0.2069 | -9 | c.-10 others(28): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SVEP1_chr9_110360248_110584741 | 110463210 | TAACAACA others(2): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00558.hp1 others(82): Show |
a0002a0003a0006others(16): Show | a0002c0164a0003c0004a0003c0032others(24): Show | a0002c0164t0006a0003c0004t0001a0003c0032t0001others(30): Show | a0002c0164t0006g0012 a0003c0004t0001g0025 a0003c0004t0001g0029 others(82): Show |
85 | 117 | 0.7265 | -9 | c.332 others(28): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 18/47 | chr9 | TogoVar | |||||||
SVEP1_chr9_110360248_110584741 | 110572789 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG02155.hp1 NA18992.hp1 others(3): Show |
a0014a0019a0026others(3): Show | a0014c0070a0019c0015a0026c0018others(3): Show | a0014c0070t0002a0019c0015t0003a0026c0018t0003others(3): Show | a0014c0070t0002g0158 a0019c0015t0003g0155 a0026c0018t0003g0156 others(3): Show |
6 | 57 | 0.1053 | -9 | c.531 others(26): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 1/47 | chr9 | TogoVar | |||||||
SVIL_chr10_29452338_29639971 | 29482021 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01123.hp2 HG01243.hp2 others(33): Show |
a0001a0002a0004others(8): Show | a0001c0002a0001c0008a0001c0021others(19): Show | a0001c0002t0003a0001c0008t0003a0001c0021t0003others(20): Show | a0001c0002t0003g0142 a0001c0008t0003g0016 a0001c0008t0003g0020 others(33): Show |
36 | 118 | 0.3051 | -9 | c.495 others(26): Show |
SVIL | ENSG00000197321.16 | transcript | ENST00000355867.9 | protein_coding | 27/37 | chr10 | TogoVar | |||||||
SVIL_chr10_29452338_29639971 | 29498088 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01123.hp2 HG02258.hp2 HG02451.hp1 others(7): Show |
a0001a0010a0013others(3): Show | a0001c0130a0010c0027a0013c0041others(5): Show | a0001c0130t0003a0010c0027t0003a0013c0041t0003others(5): Show | a0001c0130t0003g0269 a0010c0027t0003g0143 a0010c0027t0003g0144 others(7): Show |
10 | 141 | 0.0709 | -9 | c.366 others(28): Show |
SVIL | ENSG00000197321.16 | transcript | ENST00000355867.9 | protein_coding | 18/37 | chr10 | TogoVar | |||||||
SVIL_chr10_29452338_29639971 | 29582731 | CTAATAAT others(2): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00733.hp2 HG01123.hp2 others(11): Show |
a0002a0004a0007others(4): Show | a0002c0001a0002c0053a0004c0006others(9): Show | a0002c0001t0002a0002c0053t0002a0004c0006t0001others(9): Show | a0002c0001t0002g0061 a0002c0053t0002g0133 a0004c0006t0001g0058 others(11): Show |
14 | 125 | 0.1120 | -9 | c.-20 others(30): Show |
SVIL | ENSG00000197321.16 | transcript | ENST00000355867.9 | protein_coding | 1/37 | chr10 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138644197 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG00733.hp2 HG01243.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0016 a0001c0001t0001g0244 a0001c0001t0001g0325 others(20): Show |
23 | 162 | 0.1420 | -9 | c.789 others(24): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 9/15 | chr7 | TogoVar | |||||||
SVOP_chr12_108902741_109026068 | 108946690 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG02717.hp2 HG03098.hp1 HG03239.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0081a0001c0001t0083others(1): Show | a0001c0001t0002g0057 a0001c0001t0081g0141 a0001c0001t0083g0172 others(2): Show |
5 | 45 | 0.1111 | -9 | c.579 others(26): Show |
SVOP | ENSG00000166111.10 | transcript | ENST00000610966.5 | protein_coding | 6/15 | chr12 | TogoVar | |||||||
SWAP70_chr11_9659077_9757993 | 9661934 | CTGGCCAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp2 NA20300.hp1 |
a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0002 a0001c0003t0013g0003 a0001c0003t0013g0004 |
3 | 292 | 0.0103 | -9 | c.-22 others(20): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 2142 | chr11 | TogoVar | |||||||
SWAP70_chr11_9659077_9757993 | 9671301 | TATATTTA others(2): Show |
T | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 NA20300.hp1 |
a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0002 a0001c0003t0013g0003 a0001c0003t0013g0004 |
3 | 292 | 0.0103 | -9 | 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 others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(18): Show |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0019a0002c0001t0022 | a0002c0001t0001g0251 a0002c0001t0001g0265 a0002c0001t0001g0266 others(18): Show |
21 | 109 | 0.1927 | -9 | c.414 others(26): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SWAP70_chr11_9659077_9757993 | 9725556 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG03486.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0003 | a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0003t0003g0008 others(1): Show |
4 | 292 | 0.0137 | -9 | c.642 others(24): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 4/11 | chr11 | TogoVar | |||||||
SWAP70_chr11_9659077_9757993 | 9725558 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02148.hp1 NA18964.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0018 a0001c0003t0003g0200 a0001c0003t0003g0210 others(1): Show |
4 | 292 | 0.0137 | -9 | c.642 others(24): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 4/11 | chr11 | TogoVar | |||||||
SWAP70_chr11_9659077_9757993 | 9725560 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01433.hp2 HG01928.hp1 others(24): Show |
a0001a0002 | a0001c0003a0002c0004 | a0001c0003t0003a0001c0003t0004a0001c0003t0025others(1): Show | a0001c0003t0003g0035 a0001c0003t0003g0107 a0001c0003t0003g0112 others(24): Show |
27 | 289 | 0.0934 | -9 | c.642 others(24): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 4/11 | chr11 | TogoVar | |||||||
SWI5_chr9_128271276_128293989 | 128291978 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01243.hp2 HG01978.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0010 others(17): Show |
20 | 22 | 0.9091 | -9 | c.*32 others(20): Show |
SWI5 | ENSG00000175854.15 | transcript | ENST00000418976.3 | protein_coding | 2990 | chr9 | TogoVar | |||||||
SYAP1_chrX_16714612_16770340 | 16752364 | GATTATTA others(2): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02451.hp1 HG02559.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(3): Show | a0001c0001t0001g0141 a0001c0001t0001g0220 a0001c0001t0003g0137 others(5): Show |
8 | 137 | 0.0584 | -9 | c.576 others(26): Show |
SYAP1 | ENSG00000169895.6 | transcript | ENST00000380155.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SYCN_chr19_39197825_39209263 | 39202312 | TGTATTTT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG02622.hp2 HG02647.hp2 NA19043.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 5 | 374 | 0.0134 | -9 | c.*66 others(18): Show |
SYCN | ENSG00000179751.7 | transcript | ENST00000318438.7 | protein_coding | 512 | chr19 | TogoVar | |||||||
SYCP2L_chr6_10882052_10979309 | 10884486 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(63): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0011others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0025 others(61): Show |
66 | 76 | 0.8684 | -9 | c.-26 others(20): Show |
SYCP2L | ENSG00000153157.14 | transcript | ENST00000283141.11 | protein_coding | 2565 | chr6 | TogoVar | |||||||
SYCP2L_chr6_10882052_10979309 | 10888066 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00423.hp2 others(30): Show |
a0001a0003a0005 | a0001c0001a0003c0004a0003c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0003c0004t0001others(3): Show | a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 others(30): Show |
33 | 35 | 0.9429 | -9 | c.9+9 others(20): Show |
SYCP2L | ENSG00000153157.14 | transcript | ENST00000283141.11 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYCP2L_chr6_10882052_10979309 | 10907892 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02258.hp1 others(9): Show |
a0001a0002 | a0001c0011a0001c0025a0002c0003others(2): Show | a0001c0011t0001a0001c0025t0001a0002c0003t0001others(2): Show | a0001c0011t0001g0141 a0001c0011t0001g0182 a0001c0025t0001g0146 others(9): Show |
12 | 29 | 0.4138 | -9 | c.819 others(24): Show |
SYCP2L | ENSG00000153157.14 | transcript | ENST00000283141.11 | protein_coding | 10/29 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYCP2L_chr6_10882052_10979309 | 10911894 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG02027.hp1 others(25): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0003a0003c0004others(6): Show | a0001c0001t0001a0002c0003t0001a0003c0004t0001others(6): Show | a0001c0001t0001g0050 a0001c0001t0001g0076 a0001c0001t0001g0130 others(24): Show |
28 | 51 | 0.5490 | -9 | c.919 others(24): Show |
SYCP2L | ENSG00000153157.14 | transcript | ENST00000283141.11 | protein_coding | 12/29 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYCP3_chr12_101723648_101744462 | 101725623 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG02056.hp1 others(55): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0015 a0001c0001t0002g0023 others(16): Show |
58 | 344 | 0.1686 | -9 | c.*32 others(20): Show |
SYCP3 | ENSG00000139351.15 | transcript | ENST00000392924.2 | protein_coding | 3024 | chr12 | TogoVar | |||||||
SYK_chr9_90796819_90903549 | 90813435 | TCCAGTTC others(2): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00558.hp1 others(48): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0056 a0001c0001t0001g0200 a0001c0001t0001g0207 others(46): Show |
51 | 374 | 0.1364 | -9 | c.-42 others(28): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 1/13 | chr9 | TogoVar | |||||||
SYK_chr9_90796819_90903549 | 90891142 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00544.hp2 others(44): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(20): Show | a0001c0001t0002g0122 a0001c0001t0003g0121 a0001c0001t0006g0014 others(43): Show |
47 | 168 | 0.2798 | -9 | c.183 others(28): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SYMPK_chr19_45810410_45868147 | 45811743 | GTATTATT others(2): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(86): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0001g0258 a0001c0001t0004g0012 a0001c0001t0004g0046 others(80): Show |
89 | 319 | 0.2790 | -9 | c.*38 others(20): Show |
SYMPK | ENSG00000125755.19 | transcript | ENST00000245934.12 | protein_coding | 3666 | chr19 | TogoVar | |||||||
SYMPK_chr19_45810410_45868147 | 45840312 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00544.hp1 others(95): Show |
a0001a0006 | a0001c0003a0001c0005a0001c0006others(3): Show | a0001c0003t0002a0001c0005t0002a0001c0005t0004others(7): Show | a0001c0003t0002g0003 a0001c0003t0002g0007 a0001c0003t0002g0010 others(85): Show |
98 | 278 | 0.3525 | -9 | c.108 others(28): Show |
SYMPK | ENSG00000125755.19 | transcript | ENST00000245934.12 | protein_coding | 9/26 | chr19 | TogoVar | |||||||
SYN2_chr3_11999388_12197032 | 12039549 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00735.hp1 others(52): Show |
a0001a0003a0009others(1): Show | a0001c0001a0003c0003a0009c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(2): Show | a0001c0001t0001g0211 a0001c0001t0002g0004 a0001c0001t0002g0005 others(52): Show |
55 | 69 | 0.7971 | -9 | c.377 others(28): Show |
SYN2 | ENSG00000157152.17 | transcript | ENST00000621198.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYN2_chr3_11999388_12197032 | 12132019 | CTTTTTCT others(2): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02717.hp1 HG02976.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0158 a0001c0001t0005g0018 a0001c0001t0005g0156 others(2): Show |
5 | 262 | 0.0191 | -9 | c.378 others(26): Show |
SYN2 | ENSG00000157152.17 | transcript | ENST00000621198.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 32572379 | CATCTTTC others(2): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG02717.hp2 HG02965.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0018a0001c0001t0021a0001c0001t0045others(1): Show | a0001c0001t0018g0106 a0001c0001t0021g0063 a0001c0001t0045g0068 others(1): Show |
4 | 161 | 0.0248 | -9 | c.774 others(28): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 7/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32611284 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01496.hp1 HG02055.hp1 HG02922.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0010others(5): Show | a0001c0001t0003g0157 a0001c0001t0003g0169 a0001c0001t0007g0082 others(6): Show |
9 | 75 | 0.1200 | -9 | c.712 others(28): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32637630 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01074.hp2 HG01081.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(13): Show | a0001c0001t0001g0011 a0001c0001t0001g0048 a0001c0001t0001g0162 others(16): Show |
19 | 68 | 0.2794 | -9 | c.712 others(28): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32749005 | AGCTGACC others(2): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02818.hp1 HG02976.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0011a0001c0001t0020a0001c0003t0004 | a0001c0001t0011g0109 a0001c0001t0020g0156 a0001c0003t0004g0040 |
3 | 184 | 0.0163 | -9 | c.711 others(30): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32825657 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01069.hp2 others(24): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(15): Show | a0001c0001t0001g0020 a0001c0001t0001g0035 a0001c0001t0001g0056 others(24): Show |
27 | 32 | 0.8438 | -9 | c.711 others(28): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32946053 | AGAGGATG others(2): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG02886.hp2 HG02922.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0021a0001c0001t0033others(4): Show | a0001c0001t0003g0107 a0001c0001t0003g0157 a0001c0001t0021g0149 others(5): Show |
8 | 184 | 0.0435 | -9 | c.370 others(28): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 3/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32988307 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG00738.hp2 HG00741.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0056 a0001c0001t0002g0057 a0001c0001t0003g0128 others(15): Show |
18 | 50 | 0.3600 | -9 | c.312 others(26): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 2/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 33050479 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02723.hp2 HG02976.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0007others(1): Show | a0001c0001t0011a0001c0004t0017a0001c0007t0080others(1): Show | a0001c0001t0011g0109 a0001c0004t0017g0055 a0001c0007t0080g0112 others(2): Show |
5 | 55 | 0.0909 | -9 | c.-16 others(28): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 1/13 | chr22 | TogoVar | |||||||
SYNC_chr1_32674906_32707770 | 32678567 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG00642.hp1 others(64): Show |
a0001a0003a0005 | a0001c0001a0001c0006a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(59): Show |
67 | 70 | 0.9571 | -9 | c.*32 others(20): Show |
SYNC | ENSG00000162520.15 | transcript | ENST00000409190.8 | protein_coding | 1338 | chr1 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152186556 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG01884.hp2 HG01891.hp1 others(7): Show |
a0003a0004a0024others(7): Show | a0003c0152a0004c0093a0024c0123others(7): Show | a0003c0152t0001a0004c0093t0001a0024c0123t0007others(7): Show | a0003c0152t0001g0034 a0004c0093t0001g0028 a0024c0123t0007g0138 others(7): Show |
10 | 30 | 0.3333 | -9 | c.233 others(30): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 128/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152623109 | GCTACAGT others(2): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02647.hp2 HG03130.hp1 |
a0057a0068a0083 | a0057c0118a0068c0053a0083c0027 | a0057c0118t0004a0068c0053t0016a0083c0027t0002 | a0057c0118t0004g0009 a0068c0053t0016g0008 a0083c0027t0002g0005 |
3 | 172 | 0.0174 | -9 | c.67+ others(24): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 3/145 | chr6 | TogoVar | |||||||
SYNE2_chr14_63848004_64231433 | 63851975 | CGGGGGGG others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01074.hp1 HG01081.hp1 HG01884.hp1 others(22): Show |
a0001a0002a0003others(15): Show | a0001c0025a0002c0001a0003c0002others(19): Show | a0001c0025t0002a0002c0001t0003a0003c0002t0001others(20): Show | a0001c0025t0002g0084 a0002c0001t0003g0068 a0003c0002t0001g0091 others(22): Show |
25 | 36 | 0.6944 | -9 | c.-12 others(20): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 1028 | chr14 | TogoVar | |||||||
SYNE2_chr14_63848004_64231433 | 63895624 | CTGGGCAG others(2): Show |
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 | -9 | c.-51 others(28): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 1/115 | chr14 | TogoVar | |||||||
SYNE2_chr14_63848004_64231433 | 63959269 | CTTTTTTC others(2): Show |
C | intron_variant | MODIFIER | HG03704.hp2 HG04228.hp2 NA18986.hp2 |
a0022a0059 | a0022c0021a0059c0074 | a0022c0021t0003a0059c0074t0002 | a0022c0021t0003g0020 a0022c0021t0003g0021 a0059c0074t0002g0022 |
3 | 148 | 0.0203 | -9 | c.788 others(26): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 8/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64082418 | CTCAAGCA others(2): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG00738.hp2 others(29): Show |
a0001a0004a0008others(16): Show | a0001c0065a0004c0003a0008c0011others(21): Show | a0001c0065t0003a0004c0003t0002a0004c0003t0003others(24): Show | a0001c0065t0003g0126 a0004c0003t0002g0045 a0004c0003t0002g0051 others(29): Show |
32 | 148 | 0.2162 | -9 | c.114 others(28): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 57/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64100532 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02622.hp1 HG02622.hp2 others(5): Show |
a0008a0009a0018others(4): Show | a0008c0011a0009c0078a0009c0079others(5): Show | a0008c0011t0008a0009c0078t0001a0009c0079t0002others(5): Show | a0008c0011t0008g0054 a0009c0078t0001g0085 a0009c0079t0002g0087 others(5): Show |
8 | 119 | 0.0672 | -9 | c.123 others(30): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 63/115 | chr14 | TogoVar | |||||||
SYNE2_chr14_63848004_64231433 | 64138937 | TGTATGTA others(2): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00735.hp1 others(21): Show |
a0001a0004a0006others(8): Show | a0001c0004a0001c0005a0001c0019others(11): Show | a0001c0004t0004a0001c0005t0001a0001c0005t0004others(14): Show | a0001c0004t0004g0104 a0001c0004t0004g0105 a0001c0004t0004g0127 others(21): Show |
24 | 148 | 0.1622 | -9 | c.148 others(28): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 79/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64150291 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(27): Show |
a0001a0004a0005others(13): Show | a0001c0005a0001c0065a0004c0003others(17): Show | a0001c0005t0001a0001c0005t0004a0001c0065t0003others(20): Show | a0001c0005t0001g0032 a0001c0005t0001g0110 a0001c0005t0004g0062 others(27): Show |
30 | 110 | 0.2727 | -9 | c.156 others(30): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 84/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE3_chr14_95402266_95521650 | 95432633 | CTATTATT others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00438.hp2 others(35): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0032a0001c0039others(18): Show | a0001c0001t0056a0001c0032t0166a0001c0032t0167others(30): Show | a0001c0001t0056g0281 a0001c0001t0056g0282 a0001c0032t0166g0251 others(35): Show |
38 | 208 | 0.1827 | -9 | c.268 others(26): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 16/17 | chr14 | TogoVar | |||||||
SYNGR1_chr22_39344991_39390575 | 39359630 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG01891.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0181 a0001c0001t0001g0192 a0001c0001t0001g0197 others(19): Show |
23 | 41 | 0.5610 | -9 | c.99+ others(24): Show |
SYNGR1 | ENSG00000100321.15 | transcript | ENST00000328933.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SYNGR2_chr17_78163581_78177720 | 78169262 | GTGTGTGT others(2): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG03098.hp1 HG03195.hp2 others(3): Show |
a0003 | a0003c0005 | a0003c0005t0001a0003c0005t0002 | a0003c0005t0001g0016 a0003c0005t0001g0043 a0003c0005t0002g0044 |
6 | 410 | 0.0146 | -9 | c.99+ others(22): Show |
SYNGR2 | ENSG00000108639.8 | transcript | ENST00000225777.8 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
SYNJ1_chr21_32623763_32733013 | 32722202 | AAAAATAT others(2): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG02622.hp2 HG02723.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0004a0001c0004t0004 | a0001c0001t0002g0021 a0001c0001t0004g0193 a0001c0001t0004g0194 others(2): Show |
6 | 323 | 0.0186 | -9 | c.124 others(26): Show |
SYNJ1 | ENSG00000159082.18 | transcript | ENST00000674351.1 | protein_coding | 2/32 | chr21 | TogoVar |