regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SURF4_chr9_133356464_133381060 | 133373909 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0090 | 1 | 424 | 0.0024 | 23 | c.48+ others(38): Show |
SURF4 | ENSG00000148248.14 | transcript | ENST00000371989.8 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
SUSD1_chr9_112035783_112180297 | 112165922 | A | AAAAGAAA others(16): Show |
intron_variant | MODIFIER | NA18940.hp2 NA18987.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049a0001c0001t0001g0050 | 2 | 338 | 0.0059 | 23 | c.104 others(40): Show |
SUSD1 | ENSG00000106868.17 | transcript | ENST00000374270.8 | protein_coding | 1/16 | chr9 | TogoVar | ||||||
SUSD1_chr9_112035783_112180297 | 112165994 | A | AAAGAAAG others(16): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0330 | 1 | 338 | 0.0030 | 23 | c.104 others(40): Show |
SUSD1 | ENSG00000106868.17 | transcript | ENST00000374270.8 | protein_coding | 1/16 | chr9 | TogoVar | ||||||
SUSD5_chr3_33145043_33223810 | 33183930 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01099.hp2 HG01891.hp1 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0004a0003c0003others(2): Show | a0001c0001t0025a0002c0004t0006a0003c0003t0004others(3): Show | a0001c0001t0025g0099a0002c0004t0006g0148a0002c0004t0006g0149others(7): Show | 10 | 404 | 0.0248 | 23 | c.410 others(40): Show |
SUSD5 | ENSG00000173705.9 | transcript | ENST00000309558.8 | protein_coding | 3/4 | chr3 | TogoVar | ||||||
SUSD6_chr14_69606596_69720144 | 69654790 | G | GTGTGTGT others(16): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0249a0001c0001t0023g0250 | 2 | 288 | 0.0069 | 23 | c.-80 others(40): Show |
SUSD6 | ENSG00000100647.8 | transcript | ENST00000342745.5 | protein_coding | 1/5 | chr14 | TogoVar | ||||||
SUZ12_chr17_31932007_32006038 | 31980429 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 280 | 0.0036 | 23 | c.918 others(40): Show |
SUZ12 | ENSG00000178691.11 | transcript | ENST00000322652.10 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SVEP1_chr9_110360248_110584741 | 110434666 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0089 | a0089c0135 | a0089c0135t0001 | a0089c0135t0001g0079 | 1 | 362 | 0.0028 | 23 | c.488 others(40): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 29/47 | chr9 | TogoVar | ||||||
SVEP1_chr9_110360248_110584741 | 110466760 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02486.hp1 HG03453.hp1 others(1): Show |
a0034a0051 | a0034c0031a0051c0050 | a0034c0031t0004a0051c0050t0004 | a0034c0031t0004g0208a0034c0031t0004g0209a0051c0050t0004g0083others(1): Show | 4 | 362 | 0.0111 | 23 | c.316 others(40): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 17/47 | chr9 | TogoVar | ||||||
SVOPL_chr7_138589285_138706362 | 138642831 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0353 | 1 | 360 | 0.0028 | 23 | c.789 others(40): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 9/15 | chr7 | TogoVar | ||||||
SWAP70_chr11_9659077_9757993 | 9751698 | C | CTGGAATA others(16): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(129): Show |
a0001a0002 | a0001c0002a0002c0001a0002c0004others(2): Show | a0001c0002t0033a0002c0001t0001a0002c0001t0005others(16): Show | a0001c0002t0033g0155a0002c0001t0001g0010a0002c0001t0001g0031others(129): Show | 132 | 294 | 0.4490 | 23 | c.*17 others(34): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 12/12 | 1752 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
SWT1_chr1_185152167_185296781 | 185292368 | T | TTTTCCCT others(16): Show |
downstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 1 | 326 | 0.0031 | 23 | c.*15 others(34): Show |
SWT1 | ENSG00000116668.13 | transcript | ENST00000367500.9 | protein_coding | 588 | chr1 | TogoVar | ||||||
SYCE1L_chr16_77194408_77218215 | 77215742 | C | CTCTTTTT others(16): Show |
downstream_gene_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 442 | 0.0023 | 23 | c.*28 others(34): Show |
SYCE1L | ENSG00000205078.6 | transcript | ENST00000378644.5 | protein_coding | 2528 | chr16 | TogoVar | ||||||
SYCE2_chr19_12893786_12924293 | 12920125 | A | ACACACAC others(16): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 NA18986.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0033 | 2 | 378 | 0.0053 | 23 | c.-86 others(32): Show |
SYCE2 | ENSG00000161860.8 | transcript | ENST00000293695.8 | protein_coding | 833 | chr19 | TogoVar | ||||||
SYCP1_chr1_114849863_115000370 | 114857136 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02615.hp2 NA18612.hp2 NA18980.hp2 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0023a0001c0005t0001g0067a0001c0005t0001g0068others(2): Show | 5 | 312 | 0.0160 | 23 | c.194 others(36): Show |
SYCP1 | ENSG00000198765.12 | transcript | ENST00000369522.8 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SYCP2L_chr6_10882052_10979309 | 10883180 | C | CTTTTTTT others(16): Show |
upstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 354 | 0.0028 | 23 | c.-39 others(34): Show |
SYCP2L | ENSG00000153157.14 | transcript | ENST00000283141.11 | protein_coding | 3871 | chr6 | TogoVar | ||||||
SYCP2L_chr6_10882052_10979309 | 10907892 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235a0001c0001t0001g0236 | 2 | 354 | 0.0057 | 23 | c.819 others(38): Show |
SYCP2L | ENSG00000153157.14 | transcript | ENST00000283141.11 | protein_coding | 10/29 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SYCP2L_chr6_10882052_10979309 | 10978304 | T | TATATATA others(16): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 354 | 0.0028 | 23 | c.*43 others(34): Show |
SYCP2L | ENSG00000153157.14 | transcript | ENST00000283141.11 | protein_coding | 3996 | chr6 | TogoVar | ||||||
SYCP3_chr12_101723648_101744462 | 101735871 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 426 | 0.0024 | 23 | c.236 others(38): Show |
SYCP3 | ENSG00000139351.15 | transcript | ENST00000392924.2 | protein_coding | 4/8 | chr12 | TogoVar | ||||||
SYK_chr9_90796819_90903549 | 90802815 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01255.hp1 others(1): Show |
a0001 | a0001c0004a0001c0005 | a0001c0004t0003a0001c0004t0004a0001c0005t0007 | a0001c0004t0003g0038a0001c0004t0004g0352a0001c0005t0007g0002 | 4 | 376 | 0.0106 | 23 | c.-42 others(38): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SYN3_chr22_32502820_33063381 | 32710645 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0138 | 1 | 184 | 0.0054 | 23 | c.712 others(44): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | ||||||
SYNC_chr1_32674906_32707770 | 32687855 | A | ATTATTAT others(16): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00558.hp1 others(58): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0027others(48): Show | 61 | 318 | 0.1918 | 23 | c.123 others(42): Show |
SYNC | ENSG00000162520.15 | transcript | ENST00000409190.8 | protein_coding | 2/4 | chr1 | TogoVar | ||||||
SYNE1_chr6_152116687_152642362 | 152179673 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01433.hp2 NA18950.hp2 NA18951.hp2 others(2): Show |
a0007a0011a0013others(2): Show | a0007c0085a0011c0032a0013c0061others(2): Show | a0007c0085t0007a0011c0032t0010a0013c0061t0006others(2): Show | a0007c0085t0007g0148a0011c0032t0010g0138a0013c0061t0006g0124others(2): Show | 5 | 174 | 0.0287 | 23 | c.234 others(42): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 129/145 | chr6 | TogoVar | ||||||
SYNE1_chr6_152116687_152642362 | 152606976 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0047 | a0047c0166 | a0047c0166t0002 | a0047c0166t0002g0055 | 1 | 174 | 0.0058 | 23 | c.67+ others(40): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 3/145 | chr6 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 63974886 | G | GTATATAT others(16): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0020 | a0020c0020 | a0020c0020t0001 | a0020c0020t0001g0134 | 1 | 150 | 0.0067 | 23 | c.112 others(42): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 11/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SYNE2_chr14_63848004_64231433 | 64100531 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0009 | a0001c0009t0003 | a0001c0009t0003g0131 | 1 | 150 | 0.0067 | 23 | c.123 others(44): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 63/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SYNJ1_chr21_32623763_32733013 | 32713636 | G | GTCAACAT others(16): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0281 | 1 | 346 | 0.0029 | 23 | c.125 others(42): Show |
SYNJ1 | ENSG00000159082.18 | transcript | ENST00000674351.1 | protein_coding | 2/32 | chr21 | TogoVar | ||||||
SYNJ2BP_chr14_70361499_70422090 | 70399613 | T | TCAGTGCC others(16): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02897.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0064a0001c0001t0065a0001c0001t0066others(1): Show | a0001c0001t0064g0153a0001c0001t0065g0268a0001c0001t0066g0216others(1): Show | 4 | 364 | 0.0110 | 23 | c.65- others(40): Show |
SYNJ2BP | ENSG00000213463.5 | transcript | ENST00000256366.6 | protein_coding | 1/3 | chr14 | TogoVar | ||||||
SYNM_chr15_99100080_99140593 | 99104555 | A | ATATATAT others(16): Show |
upstream_gene_variant | MODIFIER | HG02273.hp1 | a0007 | a0007c0011 | a0007c0011t0020 | a0007c0011t0020g0010 | 1 | 420 | 0.0024 | 23 | c.-64 others(32): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 524 | chr15 | TogoVar | ||||||
SYNM_chr15_99100080_99140593 | 99104556 | T | TATATATA others(16): Show |
upstream_gene_variant | MODIFIER | NA18961.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0077 | 1 | 420 | 0.0024 | 23 | c.-64 others(32): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 523 | chr15 | TogoVar | ||||||
SYNPO2_chr4_118883854_119066247 | 118890697 | T | TCTCTCTC others(16): Show |
intron_variant | MODIFIER | HG02083.hp2 HG03486.hp2 |
a0005a0026 | a0005c0009a0026c0022 | a0005c0009t0003a0026c0022t0047 | a0005c0009t0003g0056a0026c0022t0047g0057 | 2 | 310 | 0.0065 | 23 | c.105 others(40): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
SYNPO2_chr4_118883854_119066247 | 118927776 | T | TGATAGAT others(16): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0226 | 1 | 310 | 0.0032 | 23 | c.105 others(42): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SYNPR_chr3_63273308_63621924 | 63408142 | A | AAAGAAAG others(16): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0236 | 1 | 246 | 0.0041 | 23 | c.85- others(40): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SYNPR_chr3_63273308_63621924 | 63408194 | G | GAAAGAAA others(16): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0062 | 1 | 246 | 0.0041 | 23 | c.85- others(40): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SYNPR_chr3_63273308_63621924 | 63408194 | G | GAAAGAAA others(16): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 246 | 0.0041 | 23 | c.85- others(40): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SYNPR_chr3_63273308_63621924 | 63540930 | A | ACACACAC others(16): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01074.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034a0001c0001t0002g0188 | 2 | 246 | 0.0081 | 23 | c.210 others(42): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 3/5 | chr3 | TogoVar | ||||||
SYNRG_chr17_37509807_37614418 | 37511585 | C | CTTTTTTT others(16): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0273 | 1 | 349 | 0.0029 | 23 | c.*73 others(34): Show |
SYNRG | ENSG00000275066.5 | transcript | ENST00000612223.5 | protein_coding | 3221 | chr17 | TogoVar | ||||||
SYNRG_chr17_37509807_37614418 | 37511937 | A | AGTTTTTT others(16): Show |
downstream_gene_variant | MODIFIER | HG01168.hp1 NA18993.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0024 | a0002c0002t0002g0195a0002c0002t0024g0255 | 2 | 349 | 0.0057 | 23 | c.*70 others(34): Show |
SYNRG | ENSG00000275066.5 | transcript | ENST00000612223.5 | protein_coding | 2869 | chr17 | TogoVar | ||||||
SYPL1_chr7_106085505_106117312 | 106097986 | T | TCCCCAAA others(16): Show |
intron_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 398 | 0.0025 | 23 | c.195 others(37): Show |
SYPL1 | ENSG00000008282.10 | transcript | ENST00000455385.7 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
SYT14_chr1_209933217_210176315 | 210000613 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01123.hp2 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0026 | a0001c0001t0006g0143a0001c0001t0026g0165 | 2 | 358 | 0.0056 | 23 | c.62- others(40): Show |
SYT14 | ENSG00000143469.21 | transcript | ENST00000367019.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SYT17_chr16_19163240_19273332 | 19241993 | A | AGGGAAGT others(16): Show |
intron_variant | MODIFIER | HG02109.hp2 NA20300.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0072a0001c0003t0016 | a0001c0001t0072g0049a0001c0003t0016g0289 | 2 | 324 | 0.0062 | 23 | c.122 others(44): Show |
SYT17 | ENSG00000103528.17 | transcript | ENST00000355377.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SYT1_chr12_78859774_79457008 | 78929409 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0007 | 1 | 62 | 0.0161 | 23 | c.-21 others(44): Show |
SYT1 | ENSG00000067715.15 | transcript | ENST00000261205.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SYT1_chr12_78859774_79457008 | 79179325 | T | TAGATATA others(16): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0019a0001c0001t0012g0021 | 2 | 62 | 0.0323 | 23 | c.-17 others(42): Show |
SYT1 | ENSG00000067715.15 | transcript | ENST00000261205.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SYT1_chr12_78859774_79457008 | 79300824 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | NA18992.hp1 NA18992.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0001 | a0001c0001t0004g0003a0001c0002t0001g0059 | 2 | 62 | 0.0323 | 23 | c.810 others(40): Show |
SYT1 | ENSG00000067715.15 | transcript | ENST00000261205.9 | protein_coding | 8/10 | chr12 | TogoVar | ||||||
SYT3_chr19_50616977_50644881 | 50617043 | A | ATATATAG others(16): Show |
downstream_gene_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0210 | 1 | 388 | 0.0026 | 23 | c.*54 others(34): Show |
SYT3 | ENSG00000213023.11 | transcript | ENST00000600079.6 | protein_coding | 4933 | chr19 | TogoVar | ||||||
SYT5_chr19_55166196_55185289 | 55170873 | T | TCTCTCTC others(16): Show |
downstream_gene_variant | MODIFIER | NA18943.hp1 NA18952.hp2 NA18991.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0022 | a0001c0002t0002g0002a0001c0002t0022g0018 | 4 | 410 | 0.0098 | 23 | c.*26 others(34): Show |
SYT5 | ENSG00000129990.15 | transcript | ENST00000354308.8 | protein_coding | 322 | chr19 | TogoVar | ||||||
SYT9_chr11_7246904_7474043 | 7407360 | A | ATTTTTTT others(16): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0230 | 1 | 272 | 0.0037 | 23 | c.104 others(42): Show |
SYT9 | ENSG00000170743.17 | transcript | ENST00000318881.11 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TAB2_chr6_149312712_149416607 | 149317834 | A | AGGGGGCT others(16): Show |
5_prime_UTR_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0078 | 1 | 366 | 0.0027 | 23 | c.-27 others(32): Show |
TAB2 | ENSG00000055208.20 | transcript | ENST00000637181.2 | protein_coding | 1/7 | 52140 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
TAB2_chr6_149312712_149416607 | 149357430 | A | AAAAAAAC others(16): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0172a0001c0001t0003g0337 | 2 | 366 | 0.0055 | 23 | c.-89 others(42): Show |
TAB2 | ENSG00000055208.20 | transcript | ENST00000637181.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
TAB2_chr6_149312712_149416607 | 149358673 | T | TGTGTGTG others(16): Show |
intron_variant | MODIFIER | HG02572.hp1 HG04228.hp2 NA18522.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0092a0001c0001t0001g0093a0001c0002t0002g0105 | 3 | 366 | 0.0082 | 23 | c.-89 others(42): Show |
TAB2 | ENSG00000055208.20 | transcript | ENST00000637181.2 | protein_coding | 1/6 | chr6 | TogoVar | ||||||
TACC1_chr8_38782236_38858028 | 38853227 | A | ATGTAGAT others(16): Show |
downstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0002 | a0001c0002t0035 | a0001c0002t0035g0063 | 1 | 346 | 0.0029 | 23 | c.*52 others(34): Show |
TACC1 | ENSG00000147526.20 | transcript | ENST00000317827.9 | protein_coding | 200 | chr8 | TogoVar |