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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SUPT6H_chr17_28657205_28707679 | 28706937 | CTATGAGG others(6): Show |
C | downstream_gene_variant | MODIFIER | HG01123.hp1 HG01261.hp2 HG01433.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0013 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0005 a0001c0001t0002g0034 a0001c0001t0002g0088 others(6): Show |
10 | 231 | 0.0433 | -13 | c.*53 others(24): Show |
SUPT6H | ENSG00000109111.15 | transcript | ENST00000314616.11 | protein_coding | 4259 | chr17 | TogoVar | |||||||
SUSD1_chr9_112035783_112180297 | 112077499 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02895.hp1 HG02897.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0003a0002c0007t0001 | a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0007 others(2): Show |
5 | 220 | 0.0227 | -13 | c.175 others(32): Show |
SUSD1 | ENSG00000106868.17 | transcript | ENST00000374270.8 | protein_coding | 12/16 | chr9 | TogoVar | |||||||
SUSD5_chr3_33145043_33223810 | 33183930 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00544.hp2 others(45): Show |
a0001a0003a0008 | a0001c0001a0001c0014a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(7): Show | a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 others(44): Show |
48 | 75 | 0.6400 | -13 | c.410 others(30): Show |
SUSD5 | ENSG00000173705.9 | transcript | ENST00000309558.8 | protein_coding | 3/4 | chr3 | TogoVar | |||||||
SUSD6_chr14_69606596_69720144 | 69639313 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG01175.hp1 HG01433.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0022 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 others(2): Show |
5 | 77 | 0.0649 | -13 | c.-80 others(32): Show |
SUSD6 | ENSG00000100647.8 | transcript | ENST00000342745.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SUSD6_chr14_69606596_69720144 | 69643013 | ACTCTTTC others(6): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0273 | 1 | 286 | 0.0035 | -13 | c.-80 others(32): Show |
SUSD6 | ENSG00000100647.8 | transcript | ENST00000342745.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SUV39H2_chr10_14873866_14909315 | 14883704 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG03130.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0022 a0001c0001t0004g0022 |
3 | 157 | 0.0191 | -13 | c.177 others(30): Show |
SUV39H2 | ENSG00000152455.16 | transcript | ENST00000354919.11 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SUV39H2_chr10_14873866_14909315 | 14898202 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 298 | 0.0034 | -13 | c.849 others(28): Show |
SUV39H2 | ENSG00000152455.16 | transcript | ENST00000354919.11 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SV2C_chr5_76078383_76338956 | 76177191 | ATATTAAT others(6): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG02895.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0100a0001c0002t0103a0001c0002t0106others(1): Show | a0001c0002t0100g0206 a0001c0002t0103g0148 a0001c0002t0106g0210 others(1): Show |
4 | 232 | 0.0172 | -13 | c.581 others(32): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 2/12 | chr5 | TogoVar | |||||||
SV2C_chr5_76078383_76338956 | 76177194 | TTAATATA others(6): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(193): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0007others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(149): Show | a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0039 others(193): Show |
196 | 232 | 0.8448 | -13 | c.581 others(32): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SV2C_chr5_76078383_76338956 | 76302630 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0002 | a0001c0002t0035 | a0001c0002t0035g0181 | 1 | 73 | 0.0137 | -13 | c.200 others(32): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SVEP1_chr9_110360248_110584741 | 110378670 | GCCCATGC others(6): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG00738.hp2 others(7): Show |
a0004a0007a0059others(1): Show | a0004c0005a0004c0060a0007c0019others(3): Show | a0004c0005t0003a0004c0060t0010a0007c0019t0003others(3): Show | a0004c0005t0003g0058 a0004c0005t0003g0257 a0004c0005t0003g0340 others(7): Show |
10 | 360 | 0.0278 | -13 | c.104 others(32): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 44/47 | chr9 | TogoVar | |||||||
SVEP1_chr9_110360248_110584741 | 110570970 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00438.hp2 others(67): Show |
a0001a0002a0004others(28): Show | a0001c0002a0001c0053a0001c0122others(38): Show | a0001c0002t0002a0001c0002t0004a0001c0053t0001others(46): Show | a0001c0002t0002g0154 a0001c0002t0002g0244 a0001c0002t0002g0245 others(66): Show |
70 | 155 | 0.4516 | -13 | c.531 others(30): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 1/47 | chr9 | TogoVar | |||||||
SVEP1_chr9_110360248_110584741 | 110572789 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG03579.hp1 |
a0005a0045 | a0005c0007a0045c0058 | a0005c0007t0004a0045c0058t0001 | a0005c0007t0004g0206 a0045c0058t0001g0207 |
2 | 53 | 0.0377 | -13 | c.531 others(30): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 1/47 | chr9 | TogoVar | |||||||
SVIL_chr10_29452338_29639971 | 29545853 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02083.hp2 | a0003 | a0003c0013 | a0003c0013t0002 | a0003c0013t0002g0180 | 1 | 106 | 0.0094 | -13 | c.827 others(30): Show |
SVIL | ENSG00000197321.16 | transcript | ENST00000355867.9 | protein_coding | 6/37 | chr10 | TogoVar | |||||||
SVIL_chr10_29452338_29639971 | 29590165 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG00735.hp2 others(22): Show |
a0001a0003a0005others(5): Show | a0001c0004a0001c0034a0001c0084others(12): Show | a0001c0004t0001a0001c0034t0003a0001c0084t0001others(12): Show | a0001c0004t0001g0029 a0001c0034t0003g0030 a0001c0034t0003g0138 others(22): Show |
25 | 126 | 0.1984 | -13 | c.-20 others(34): Show |
SVIL | ENSG00000197321.16 | transcript | ENST00000355867.9 | protein_coding | 1/37 | chr10 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138591668 | CAAAAAAA others(6): Show |
C | downstream_gene_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 129 | 0.0078 | -13 | c.*29 others(24): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 2616 | chr7 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138614636 | TCCACCCA others(6): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01175.hp2 others(11): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0001c0008others(5): Show | a0001c0001t0001a0001c0005t0001a0001c0008t0001others(7): Show | a0001c0001t0001g0227 a0001c0005t0001g0171 a0001c0008t0001g0184 others(11): Show |
14 | 358 | 0.0391 | -13 | c.135 others(32): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 14/15 | chr7 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138641823 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0087 | 1 | 358 | 0.0028 | -13 | c.789 others(30): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 9/15 | chr7 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138644197 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02698.hp2 HG03130.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004 | a0001c0001t0001a0002c0003t0001a0002c0004t0001 | a0001c0001t0001g0148 a0002c0003t0001g0288 a0002c0004t0001g0098 others(1): Show |
4 | 143 | 0.0280 | -13 | c.789 others(28): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 9/15 | chr7 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138664157 | GGTGCCCC others(6): Show |
G | intron_variant | MODIFIER | HG02486.hp1 HG02615.hp1 HG02723.hp1 others(1): Show |
a0001a0002a0008 | a0001c0001a0001c0005a0002c0006others(1): Show | a0001c0001t0010a0001c0005t0002a0002c0006t0006others(1): Show | a0001c0001t0010g0298 a0001c0005t0002g0117 a0002c0006t0006g0359 others(1): Show |
4 | 358 | 0.0112 | -13 | c.274 others(30): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 4/15 | chr7 | TogoVar | |||||||
SWAP70_chr11_9659077_9757993 | 9672530 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG03195.hp2 NA19043.hp2 |
a0002 | a0002c0001 | a0002c0001t0008 | a0002c0001t0008g0095 a0002c0001t0008g0096 |
2 | 142 | 0.0141 | -13 | c.99+ others(28): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SWAP70_chr11_9659077_9757993 | 9675320 | CGAGAGAG others(6): Show |
C | intron_variant | MODIFIER | NA19088.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0055 | 1 | 258 | 0.0039 | -13 | c.99+ others(30): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 1/11 | chr11 | TogoVar | |||||||
SWAP70_chr11_9659077_9757993 | 9675401 | GAGAGAGA others(6): Show |
G | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0008 | 1 | 292 | 0.0034 | -13 | c.99+ others(30): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 1/11 | chr11 | TogoVar | |||||||
SWAP70_chr11_9659077_9757993 | 9718383 | GCTGAATT others(6): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(92): Show |
a0001a0002 | a0001c0007a0001c0008a0002c0001others(1): Show | a0001c0007t0002a0001c0008t0003a0001c0008t0009others(15): Show | a0001c0007t0002g0037 a0001c0007t0002g0039 a0001c0007t0002g0291 others(92): Show |
95 | 292 | 0.3253 | -13 | c.414 others(30): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SWT1_chr1_185152167_185296781 | 185176286 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG03225.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0166 | 1 | 74 | 0.0135 | -13 | c.966 others(30): Show |
SWT1 | ENSG00000116668.13 | transcript | ENST00000367500.9 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SYBU_chr8_109568978_109649822 | 109615989 | TTTCTTTT others(6): Show |
T | intron_variant | MODIFIER | HG02895.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0280 a0001c0001t0005g0022 |
2 | 322 | 0.0062 | -13 | c.427 others(30): Show |
SYBU | ENSG00000147642.17 | transcript | ENST00000276646.14 | protein_coding | 3/6 | chr8 | TogoVar | |||||||
SYCE2_chr19_12893786_12924293 | 12910389 | TCAGGCTG others(6): Show |
T | intron_variant | MODIFIER | HG01123.hp2 HG02280.hp1 HG02451.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0044 a0001c0001t0001g0045 others(16): Show |
26 | 376 | 0.0691 | -13 | c.132 others(30): Show |
SYCE2 | ENSG00000161860.8 | transcript | ENST00000293695.8 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
SYCN_chr19_39197825_39209263 | 39199498 | CTTTTTTC others(6): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(104): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0001 a0002c0003t0001g0013 |
107 | 344 | 0.3110 | -13 | c.*34 others(24): Show |
SYCN | ENSG00000179751.7 | transcript | ENST00000318438.7 | protein_coding | 3326 | chr19 | TogoVar | |||||||
SYCN_chr19_39197825_39209263 | 39207708 | CAAAAAAA others(6): Show |
C | upstream_gene_variant | MODIFIER | HG02622.hp2 HG02647.hp2 NA19030.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0010 |
5 | 57 | 0.0877 | -13 | c.-34 others(24): Show |
SYCN | ENSG00000179751.7 | transcript | ENST00000318438.7 | protein_coding | 3446 | chr19 | TogoVar | |||||||
SYCP1_chr1_114849863_115000370 | 114947811 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG02572.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0274 a0001c0001t0002g0279 |
2 | 46 | 0.0435 | -13 | c.232 others(30): Show |
SYCP1 | ENSG00000198765.12 | transcript | ENST00000369522.8 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SYCP2L_chr6_10882052_10979309 | 10888066 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG02622.hp2 others(5): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0003a0002c0007others(3): Show | a0001c0001t0002a0002c0003t0002a0002c0007t0001others(3): Show | a0001c0001t0002g0009 a0002c0003t0002g0017 a0002c0007t0001g0016 others(5): Show |
8 | 10 | 0.8000 | -13 | c.9+9 others(24): Show |
SYCP2L | ENSG00000153157.14 | transcript | ENST00000283141.11 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYCP2_chr20_59858571_59938637 | 59879809 | GTAAATAT others(6): Show |
G | intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 274 | 0.0036 | -13 | c.294 others(30): Show |
SYCP2 | ENSG00000196074.13 | transcript | ENST00000357552.8 | protein_coding | 31/44 | chr20 | TogoVar | |||||||
SYDE2_chr1_85151889_85206016 | 85181139 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG01258.hp2 HG02615.hp2 |
a0004a0007 | a0004c0004a0007c0008 | a0004c0004t0003a0007c0008t0005 | a0004c0004t0003g0277 a0007c0008t0005g0137 |
2 | 24 | 0.0833 | -13 | c.254 others(30): Show |
SYDE2 | ENSG00000097096.10 | transcript | ENST00000341460.6 | protein_coding | 3/6 | chr1 | TogoVar | |||||||
SYMPK_chr19_45810410_45868147 | 45815500 | GCCCCGCC others(6): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG02080.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0006 | a0001c0001t0006g0004 a0001c0001t0006g0008 a0001c0001t0006g0024 others(19): Show |
25 | 390 | 0.0641 | -13 | c.*47 others(20): Show |
SYMPK | ENSG00000125755.19 | transcript | ENST00000245934.12 | protein_coding | 27/27 | 47 | chr19 | TogoVar | ||||||
SYMPK_chr19_45810410_45868147 | 45817417 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(92): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0019 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0013 others(83): Show |
95 | 144 | 0.6597 | -13 | c.308 others(30): Show |
SYMPK | ENSG00000125755.19 | transcript | ENST00000245934.12 | protein_coding | 23/26 | chr19 | TogoVar | |||||||
SYN2_chr3_11999388_12197032 | 12104570 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | NA18522.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0050 | 1 | 29 | 0.0345 | -13 | c.378 others(32): Show |
SYN2 | ENSG00000157152.17 | transcript | ENST00000621198.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 32525419 | ATGAAGGG others(6): Show |
A | intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0182 | 1 | 184 | 0.0054 | -13 | c.131 others(32): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 12/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32556795 | GGTTTCCT others(6): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(52): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0011 a0001c0001t0001g0035 a0001c0001t0001g0048 others(52): Show |
55 | 159 | 0.3459 | -13 | c.775 others(32): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 7/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 33008924 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0074 | 1 | 50 | 0.0200 | -13 | c.-16 others(32): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 1/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 33036678 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG00738.hp1 others(42): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0048 others(42): Show |
45 | 83 | 0.5422 | -13 | c.-16 others(34): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 1/13 | chr22 | TogoVar | |||||||
SYNC_chr1_32674906_32707770 | 32678567 | CTTTTTTT others(6): Show |
C | downstream_gene_variant | MODIFIER | HG02922.hp2 HG03139.hp2 |
a0003 | a0003c0003 | a0003c0003t0010 | a0003c0003t0010g0048 a0003c0003t0010g0049 |
2 | 5 | 0.4000 | -13 | c.*32 others(24): Show |
SYNC | ENSG00000162520.15 | transcript | ENST00000409190.8 | protein_coding | 1338 | chr1 | TogoVar | |||||||
SYNDIG1_chr20_24464629_24671616 | 24500514 | CTTTCTTT others(6): Show |
C | intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 268 | 0.0037 | -13 | c.-79 others(32): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SYNDIG1_chr20_24464629_24671616 | 24502110 | CACTGGCA others(6): Show |
C | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 268 | 0.0037 | -13 | c.-79 others(32): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SYNDIG1_chr20_24464629_24671616 | 24640472 | AAGAAGGA others(6): Show |
A | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 268 | 0.0037 | -13 | c.619 others(32): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 3/3 | chr20 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152186556 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01433.hp2 HG02080.hp1 HG02083.hp2 others(23): Show |
a0002a0004a0008others(22): Show | a0002c0058a0004c0105a0008c0086others(22): Show | a0002c0058t0005a0004c0105t0008a0008c0086t0007others(22): Show | a0002c0058t0005g0100 a0004c0105t0008g0158 a0008c0086t0007g0149 others(23): Show |
26 | 46 | 0.5652 | -13 | c.233 others(34): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 128/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152188975 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG01496.hp1 HG03041.hp1 others(2): Show |
a0007a0010a0021others(1): Show | a0007c0002a0010c0006a0021c0070others(1): Show | a0007c0002t0003a0007c0002t0006a0010c0006t0006others(2): Show | a0007c0002t0003g0081 a0007c0002t0006g0164 a0010c0006t0006g0146 others(2): Show |
5 | 169 | 0.0296 | -13 | c.233 others(32): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 128/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152188977 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01069.hp1 HG01071.hp1 others(11): Show |
a0001a0004a0010others(9): Show | a0001c0008a0004c0105a0010c0006others(9): Show | a0001c0008t0007a0004c0105t0008a0010c0006t0003others(9): Show | a0001c0008t0007g0151 a0001c0008t0007g0153 a0004c0105t0008g0158 others(11): Show |
14 | 166 | 0.0843 | -13 | c.233 others(32): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 128/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152188979 | AAAAAAAT others(6): Show |
A | intron_variant | MODIFIER | HG03041.hp2 HG03453.hp2 |
a0081a0090 | a0081c0113a0090c0149 | a0081c0113t0002a0090c0149t0002 | a0081c0113t0002g0016 a0090c0149t0002g0017 |
2 | 168 | 0.0119 | -13 | c.233 others(32): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 128/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152202346 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG02622.hp2 HG02896.hp1 others(2): Show |
a0061a0064a0073others(2): Show | a0061c0104a0064c0038a0073c0096others(2): Show | a0061c0104t0004a0064c0038t0001a0073c0096t0002others(2): Show | a0061c0104t0004g0092 a0064c0038t0001g0119 a0073c0096t0002g0096 others(2): Show |
5 | 131 | 0.0382 | -13 | c.230 others(32): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 126/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152377608 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG02976.hp2 | a0079 | a0079c0165 | a0079c0165t0002 | a0079c0165t0002g0055 | 1 | 114 | 0.0088 | -13 | c.901 others(30): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 56/145 | chr6 | TogoVar |