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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
STRN3_chr14_30888804_31031379 | 30893127 | ATTACAAA others(16): Show |
A | downstream_gene_variant | MODIFIER | HG01433.hp1 HG01981.hp2 HG02572.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0006a0001c0004t0006a0001c0004t0007 | a0001c0001t0006g0232 a0001c0001t0006g0233 a0001c0001t0006g0234 others(4): Show |
7 | 338 | 0.0207 | -23 | c.*22 others(34): Show |
STRN3 | ENSG00000196792.12 | transcript | ENST00000357479.10 | protein_coding | 676 | chr14 | TogoVar | |||||||
STRN3_chr14_30888804_31031379 | 30902171 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | HG02895.hp2 HG03486.hp2 |
a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0206 a0001c0010t0002g0207 |
2 | 80 | 0.0250 | -23 | c.213 others(40): Show |
STRN3 | ENSG00000196792.12 | transcript | ENST00000357479.10 | protein_coding | 16/17 | chr14 | TogoVar | |||||||
STX11_chr6_144145517_144196939 | 144193846 | CTCTTTTT others(16): Show |
C | downstream_gene_variant | MODIFIER | HG01106.hp1 HG01433.hp1 HG02055.hp1 others(17): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0181 a0001c0001t0001g0194 a0001c0001t0001g0259 others(15): Show |
20 | 376 | 0.0532 | -23 | c.*63 others(34): Show |
STX11 | ENSG00000135604.11 | transcript | ENST00000367568.5 | protein_coding | 1908 | chr6 | TogoVar | |||||||
STX1B_chr16_30984256_31015638 | 30989432 | AAATGGGA others(16): Show |
A | 3_prime_UTR_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0118 | 1 | 280 | 0.0036 | -23 | c.*33 others(34): Show |
STX1B | ENSG00000099365.11 | transcript | ENST00000215095.11 | protein_coding | 10/10 | 3366 | chr16 | TogoVar | ||||||
STX1B_chr16_30984256_31015638 | 31013390 | TTTTCTTC others(16): Show |
T | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00735.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(6): Show |
9 | 279 | 0.0323 | -23 | c.-30 others(34): Show |
STX1B | ENSG00000099365.11 | transcript | ENST00000215095.11 | protein_coding | 2753 | chr16 | TogoVar | |||||||
STX6_chr1_180967725_181027870 | 181023095 | CCTCTCTC others(16): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG01081.hp1 HG02027.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0015 a0001c0002t0002g0211 a0001c0002t0002g0217 others(4): Show |
7 | 291 | 0.0241 | -23 | c.-44 others(32): Show |
STX6 | ENSG00000135823.14 | transcript | ENST00000258301.6 | protein_coding | 226 | chr1 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9479805 | GCCTCCTG others(16): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp2 HG02258.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0126 a0001c0002t0001g0010 a0001c0002t0001g0052 others(6): Show |
9 | 185 | 0.0486 | -23 | c.541 others(42): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9518293 | TCTTACCA others(16): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02615.hp2 HG02630.hp2 others(9): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(4): Show | a0001c0002t0001g0008 a0001c0002t0001g0070 a0001c0002t0002g0002 others(9): Show |
12 | 186 | 0.0645 | -23 | c.324 others(42): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 4/7 | chr17 | TogoVar | |||||||
STXBP5L_chr3_120903205_121429761 | 121379091 | GCCTCTGC others(16): Show |
G | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0209 | 1 | 288 | 0.0035 | -23 | c.234 others(40): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147372406 | CCTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG01256.hp1 HG01515.hp1 HG02055.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(7): Show | a0001c0001t0001g0012 a0001c0001t0003g0339 a0001c0001t0003g0340 others(16): Show |
19 | 37 | 0.5135 | -23 | c.308 others(42): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 24807451 | ATTCCAGA others(16): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00639.hp1 others(103): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008a0001c0001t0009others(55): Show | a0001c0001t0007g0010 a0001c0001t0007g0017 a0001c0001t0007g0064 others(103): Show |
106 | 240 | 0.4417 | -23 | c.*52 others(34): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 2002 | chr14 | TogoVar | |||||||
STYXL1_chr7_75991342_76053000 | 76005836 | GGAGGAGG others(16): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(186): Show |
a0001a0003a0005others(1): Show | a0001c0002a0001c0003a0001c0005others(4): Show | a0001c0002t0002a0001c0002t0006a0001c0003t0001others(8): Show | a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 others(186): Show |
189 | 354 | 0.5339 | -23 | c.454 others(38): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 5/8 | chr7 | TogoVar | |||||||
STYXL1_chr7_75991342_76053000 | 76046316 | GTGTGTGT others(16): Show |
G | intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0175 | 1 | 354 | 0.0028 | -23 | c.-5+ others(38): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47745389 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 362 | 0.0028 | -23 | c.176 others(40): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 2/20 | chr20 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47745391 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0100 | 1 | 358 | 0.0028 | -23 | c.176 others(40): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 2/20 | chr20 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47745393 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG03516.hp2 NA18963.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0008 | a0001c0001t0001g0359 a0001c0001t0004g0238 a0001c0002t0008g0149 |
3 | 339 | 0.0088 | -23 | c.176 others(40): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 2/20 | chr20 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47745395 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0327 | 1 | 348 | 0.0029 | -23 | c.176 others(40): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 2/20 | chr20 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47745397 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 344 | 0.0029 | -23 | c.176 others(40): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 2/20 | chr20 | TogoVar | |||||||
SULT1B1_chr4_69716167_69765620 | 69765537 | TATACATA others(16): Show |
T | upstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0107 | 1 | 406 | 0.0025 | -23 | c.-51 others(34): Show |
SULT1B1 | ENSG00000173597.9 | transcript | ENST00000310613.8 | protein_coding | 4918 | chr4 | TogoVar | |||||||
SULT2B1_chr19_48547172_48604423 | 48602705 | ATATATAT others(16): Show |
A | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02647.hp2 HG02723.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0001a0001c0004t0001a0001c0007t0001 | a0001c0001t0001g0018 a0001c0004t0001g0370 a0001c0007t0001g0157 others(2): Show |
5 | 261 | 0.0192 | -23 | c.*33 others(34): Show |
SULT2B1 | ENSG00000088002.12 | transcript | ENST00000201586.7 | protein_coding | 3283 | chr19 | TogoVar | |||||||
SUMF1_chr3_4356146_4472269 | 4424590 | TAACTTAA others(16): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(286): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0010others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0058 others(277): Show |
289 | 390 | 0.7410 | -23 | c.520 others(40): Show |
SUMF1 | ENSG00000144455.14 | transcript | ENST00000272902.10 | protein_coding | 3/8 | chr3 | TogoVar | |||||||
SUN1_chr7_827476_879934 | 837437 | TCAATTTT others(16): Show |
T | intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0040 | 1 | 416 | 0.0024 | -23 | c.78- others(38): Show |
SUN1 | ENSG00000164828.18 | transcript | ENST00000401592.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SUN5_chr20_32978775_33009433 | 32996378 | GTAAGGGG others(16): Show |
G | intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 380 | 0.0026 | -23 | c.391 others(36): Show |
SUN5 | ENSG00000167098.12 | transcript | ENST00000356173.8 | protein_coding | 6/12 | chr20 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 44956480 | AAAATAAA others(16): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0016 | a0001c0001t0003g0166 a0001c0002t0016g0104 |
2 | 236 | 0.0085 | -23 | c.581 others(40): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 7/10 | chr6 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 45108843 | AAAAAACT others(16): Show |
A | intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 262 | 0.0038 | -23 | c.102 others(40): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 45128522 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0103 | 1 | 262 | 0.0038 | -23 | c.102 others(42): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
SUSD6_chr14_69606596_69720144 | 69623974 | ATATGTAG others(16): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0263 | 1 | 286 | 0.0035 | -23 | c.-81 others(42): Show |
SUSD6 | ENSG00000100647.8 | transcript | ENST00000342745.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SV2C_chr5_76078383_76338956 | 76320573 | CAAAAACA others(16): Show |
C | intron_variant | MODIFIER | HG00735.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0048a0001c0001t0135 | a0001c0001t0048g0049 a0001c0001t0135g0198 |
2 | 232 | 0.0086 | -23 | c.200 others(42): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SVEP1_chr9_110360248_110584741 | 110376268 | GAGCCAGA others(16): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG00738.hp2 others(9): Show |
a0004a0007a0014others(2): Show | a0004c0005a0004c0060a0007c0019others(4): Show | a0004c0005t0003a0004c0060t0010a0007c0019t0003others(4): Show | a0004c0005t0003g0058 a0004c0005t0003g0257 a0004c0005t0003g0340 others(9): Show |
12 | 360 | 0.0333 | -23 | c.105 others(42): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 45/47 | chr9 | TogoVar | |||||||
SVEP1_chr9_110360248_110584741 | 110387935 | CATTTAAA others(16): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02258.hp1 HG02572.hp2 others(7): Show |
a0030a0032a0042others(3): Show | a0030c0034a0032c0055a0042c0049others(3): Show | a0030c0034t0001a0030c0034t0005a0032c0055t0001others(6): Show | a0030c0034t0001g0086 a0030c0034t0005g0083 a0030c0034t0005g0121 others(7): Show |
10 | 360 | 0.0278 | -23 | c.988 others(40): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 41/47 | chr9 | TogoVar | |||||||
SVIL_chr10_29452338_29639971 | 29506816 | CAGGGAAG others(16): Show |
C | intron_variant | MODIFIER | HG00438.hp1 NA18980.hp2 |
a0002a0006 | a0002c0001a0006c0083 | a0002c0001t0002a0006c0083t0002 | a0002c0001t0002g0124 a0006c0083t0002g0112 |
2 | 288 | 0.0069 | -23 | c.351 others(42): Show |
SVIL | ENSG00000197321.16 | transcript | ENST00000355867.9 | protein_coding | 17/37 | chr10 | TogoVar | |||||||
SWAP70_chr11_9659077_9757993 | 9725549 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG02451.hp1 others(5): Show |
a0001a0002 | a0001c0007a0002c0001 | a0001c0007t0002a0002c0001t0001a0002c0001t0005 | a0001c0007t0002g0037 a0001c0007t0002g0039 a0001c0007t0002g0291 others(5): Show |
8 | 292 | 0.0274 | -23 | c.642 others(38): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SWAP70_chr11_9659077_9757993 | 9725551 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00609.hp1 others(40): Show |
a0001a0002 | a0001c0008a0002c0001a0002c0005 | a0001c0008t0009a0001c0008t0035a0002c0001t0001others(6): Show | a0001c0008t0009g0093 a0001c0008t0035g0056 a0002c0001t0001g0011 others(40): Show |
43 | 276 | 0.1558 | -23 | c.642 others(38): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SWAP70_chr11_9659077_9757993 | 9725553 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG00741.hp2 HG01891.hp1 others(5): Show |
a0001a0002 | a0001c0008a0002c0001 | a0001c0008t0003a0002c0001t0001a0002c0001t0014others(1): Show | a0001c0008t0003g0053 a0002c0001t0001g0034 a0002c0001t0001g0049 others(5): Show |
8 | 278 | 0.0288 | -23 | c.642 others(38): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SWAP70_chr11_9659077_9757993 | 9725555 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0033 | 1 | 291 | 0.0034 | -23 | c.642 others(38): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SWI5_chr9_128271276_128293989 | 128291978 | CAAAAAAA others(16): Show |
C | downstream_gene_variant | MODIFIER | HG03139.hp2 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0105 |
2 | 4 | 0.5000 | -23 | c.*32 others(34): Show |
SWI5 | ENSG00000175854.15 | transcript | ENST00000418976.3 | protein_coding | 2990 | chr9 | TogoVar | |||||||
SYCP2L_chr6_10882052_10979309 | 10888066 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG02015.hp2 HG02056.hp1 HG02129.hp2 others(3): Show |
a0001a0005a0011 | a0001c0001a0005c0008a0011c0017 | a0001c0001t0001a0001c0001t0002a0005c0008t0001others(1): Show | a0001c0001t0001g0045 a0001c0001t0001g0283 a0001c0001t0002g0285 others(3): Show |
6 | 8 | 0.7500 | -23 | c.9+9 others(34): Show |
SYCP2L | ENSG00000153157.14 | transcript | ENST00000283141.11 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYCP2_chr20_59858571_59938637 | 59876369 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 26 | 0.0385 | -23 | c.315 others(40): Show |
SYCP2 | ENSG00000196074.13 | transcript | ENST00000357552.8 | protein_coding | 33/44 | chr20 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 33008941 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG03195.hp1 HG03471.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0009a0001c0001t0010a0001c0001t0053others(2): Show | a0001c0001t0009g0067 a0001c0001t0010g0087 a0001c0001t0053g0041 others(2): Show |
5 | 184 | 0.0272 | -23 | c.-16 others(42): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 1/13 | chr22 | TogoVar | |||||||
SYNDIG1_chr20_24464629_24671616 | 24667222 | TGGGTAAA others(16): Show |
T | downstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 268 | 0.0037 | -23 | c.*17 others(34): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 607 | chr20 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152253813 | GTTTGGTT others(16): Show |
G | intron_variant | MODIFIER | HG00544.hp1 NA18939.hp1 NA18994.hp2 others(1): Show |
a0002a0003a0012others(1): Show | a0002c0056a0003c0143a0012c0063others(1): Show | a0002c0056t0005a0003c0143t0009a0012c0063t0012others(1): Show | a0002c0056t0005g0102 a0003c0143t0009g0126 a0012c0063t0012g0128 others(1): Show |
4 | 128 | 0.0313 | -23 | c.194 others(44): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 104/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152253817 | GGTTTTTT others(16): Show |
G | intron_variant | MODIFIER | HG01109.hp1 | a0015 | a0015c0153 | a0015c0153t0003 | a0015c0153t0003g0113 | 1 | 60 | 0.0167 | -23 | c.194 others(44): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 104/145 | chr6 | TogoVar | |||||||
SYNJ2_chr6_157976863_158104176 | 158000064 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 62 | 0.0161 | -23 | c.128 others(42): Show |
SYNJ2 | ENSG00000078269.15 | transcript | ENST00000355585.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63336519 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG03579.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0015 a0001c0001t0002g0045 a0001c0001t0003g0042 |
3 | 19 | 0.1579 | -23 | c.84+ others(40): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63511129 | TTGGGAAT others(16): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(83): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0044 others(83): Show |
86 | 246 | 0.3496 | -23 | c.209 others(42): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYT16_chr14_61807703_62117550 | 61812762 | ACCTGGGC others(16): Show |
A | 5_prime_UTR_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0008 | 1 | 172 | 0.0058 | -23 | c.-36 others(32): Show |
SYT16 | ENSG00000139973.18 | transcript | ENST00000683842.1 | protein_coding | 1/8 | 183232 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SYT1_chr12_78859774_79457008 | 78973939 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG01255.hp2 HG01256.hp2 HG01258.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0011 | a0001c0001t0003g0056 a0001c0002t0011g0049 a0001c0002t0011g0061 |
3 | 40 | 0.0750 | -23 | c.-21 others(42): Show |
SYT1 | ENSG00000067715.15 | transcript | ENST00000261205.9 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
SYT1_chr12_78859774_79457008 | 79240691 | AGTTTCTG others(16): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0015 | 1 | 60 | 0.0167 | -23 | c.166 others(42): Show |
SYT1 | ENSG00000067715.15 | transcript | ENST00000261205.9 | protein_coding | 4/10 | chr12 | TogoVar | |||||||
SYT3_chr19_50616977_50644881 | 50623613 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01884.hp1 HG01981.hp2 others(17): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0042 others(7): Show |
20 | 49 | 0.4082 | -23 | c.170 others(40): Show |
SYT3 | ENSG00000213023.11 | transcript | ENST00000600079.6 | protein_coding | 9/10 | chr19 | TogoVar | |||||||
SYT9_chr11_7246904_7474043 | 7363024 | GCTCCATT others(16): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(84): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0053 others(84): Show |
87 | 270 | 0.3222 | -23 | c.104 others(44): Show |
SYT9 | ENSG00000170743.17 | transcript | ENST00000318881.11 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |