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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SORCS2_chr4_7187538_7747827 | 7448878 | T | TCCTCCTC others(30): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0007 | a0007c0056 | a0007c0056t0021 | a0007c0056t0021g0061 | 1 | 168 | 0.0060 | 37 | c.548 others(56): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SORCS3_chr10_104636290_105270242 | 104696413 | T | TATACAAT others(30): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG01070.hp1 others(33): Show |
a0001a0004a0008others(1): Show | a0001c0001a0001c0002a0001c0018others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0037others(33): Show | 36 | 134 | 0.2687 | 37 | c.627 others(56): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SORCS3_chr10_104636290_105270242 | 105016155 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03486.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0081a0001c0005t0001g0092 | 2 | 134 | 0.0149 | 37 | c.955 others(56): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SOX6_chr11_15961449_16361546 | 16051915 | T | TGTCTTCA others(30): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01891.hp1 HG02622.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009a0001c0001t0044others(1): Show | a0001c0001t0005g0042a0001c0001t0009g0038a0001c0001t0009g0039others(2): Show | 5 | 218 | 0.0229 | 37 | c.125 others(56): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 10/15 | chr11 | TogoVar | ||||||
SP140L_chr2_230322193_230408732 | 230354881 | G | GAAAGAAA others(30): Show |
intron_variant | MODIFIER | HG00558.hp2 NA18946.hp2 |
a0001 | a0001c0001a0001c0018 | a0001c0001t0001a0001c0018t0001 | a0001c0001t0001g0136a0001c0018t0001g0170 | 2 | 336 | 0.0060 | 37 | c.108 others(54): Show |
SP140L | ENSG00000185404.17 | transcript | ENST00000415673.7 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPAAR_chr9_35904490_35916686 | 35909891 | T | TGCCTTCC others(30): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012 | 1 | 420 | 0.0024 | 37 | c.-30 others(54): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SPAG5_chr17_28572574_28604025 | 28600750 | A | AAAAAAAA others(30): Show |
upstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 330 | 0.0030 | 37 | c.-18 others(48): Show |
SPAG5 | ENSG00000076382.17 | transcript | ENST00000321765.10 | protein_coding | 1726 | chr17 | TogoVar | ||||||
SPAG5_chr17_28572574_28604025 | 28600750 | A | AAAAAAAA others(30): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 330 | 0.0030 | 37 | c.-18 others(48): Show |
SPAG5 | ENSG00000076382.17 | transcript | ENST00000321765.10 | protein_coding | 1726 | chr17 | TogoVar | ||||||
SPAG5_chr17_28572574_28604025 | 28600750 | A | AAAAAAAT others(30): Show |
upstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 330 | 0.0030 | 37 | c.-18 others(48): Show |
SPAG5 | ENSG00000076382.17 | transcript | ENST00000321765.10 | protein_coding | 1726 | chr17 | TogoVar | ||||||
SPAG5_chr17_28572574_28604025 | 28600750 | A | AAAAATAT others(30): Show |
upstream_gene_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 330 | 0.0030 | 37 | c.-18 others(48): Show |
SPAG5 | ENSG00000076382.17 | transcript | ENST00000321765.10 | protein_coding | 1726 | chr17 | TogoVar | ||||||
SPAG9_chr17_50957174_51125868 | 51037691 | T | TATATATA others(30): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01192.hp1 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221a0001c0001t0001g0224a0001c0001t0001g0254 | 3 | 292 | 0.0103 | 37 | c.741 others(54): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 5/29 | chr17 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24190154 | T | TATAATGA others(30): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0067 | 1 | 356 | 0.0028 | 37 | c.-11 others(58): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
SPATA13_chr13_24155720_24312069 | 24309306 | T | TATATATA others(30): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 | a0012 | a0012c0022 | a0012c0022t0131 | a0012c0022t0131g0003 | 1 | 356 | 0.0028 | 37 | c.*65 others(48): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 2238 | chr13 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200396033 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 300 | 0.0033 | 37 | c.39+ others(52): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPATS2L_chr2_200301693_200487264 | 200477515 | T | TAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0136 | 1 | 300 | 0.0033 | 37 | c.128 others(52): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPC24_chr19_11140493_11160782 | 11146465 | T | TAAAAAAA others(30): Show |
3_prime_UTR_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0147 | a0001c0001t0147g0098 | 1 | 438 | 0.0023 | 37 | c.*71 others(46): Show |
SPC24 | ENSG00000161888.12 | transcript | ENST00000592540.6 | protein_coding | 5/5 | 717 | chr19 | TogoVar | |||||
SPDYE2_chr7_102546226_102568538 | 102547820 | A | AAAAGAAA others(30): Show |
upstream_gene_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0011 | a0001c0011t0005 | a0001c0011t0005g0062 | 1 | 164 | 0.0061 | 37 | c.-38 others(48): Show |
SPDYE2 | ENSG00000205238.12 | transcript | ENST00000691607.2 | protein_coding | 3405 | chr7 | TogoVar | ||||||
SPECC1L_chr22_24265831_24422738 | 24272828 | C | CCCCCCCC others(30): Show |
intron_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0064 | 1 | 326 | 0.0031 | 37 | c.-14 others(56): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SPECC1_chr17_20004359_20324026 | 20021702 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0004 | a0004c0015 | a0004c0015t0059 | a0004c0015t0059g0230 | 1 | 250 | 0.0040 | 37 | c.-22 others(56): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SPECC1_chr17_20004359_20324026 | 20021702 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0004 | a0004c0005 | a0004c0005t0009 | a0004c0005t0009g0232 | 1 | 250 | 0.0040 | 37 | c.-22 others(56): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SPHKAP_chr2_227974955_228186687 | 228043835 | C | CCTTTAAA others(30): Show |
intron_variant | MODIFIER | HG00558.hp1 NA19080.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0153a0001c0001t0002g0271 | 2 | 322 | 0.0062 | 37 | c.247 others(56): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 3/11 | chr2 | TogoVar | ||||||
SPIB_chr19_50413938_50436314 | 50434981 | T | TTGGGTCT others(30): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 HG02257.hp1 HG02723.hp2 |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0024a0001c0003t0026a0002c0001t0001 | a0001c0002t0024g0151a0001c0003t0026g0097a0002c0001t0001g0052 | 3 | 388 | 0.0077 | 37 | c.*66 others(48): Show |
SPIB | ENSG00000269404.7 | transcript | ENST00000595883.6 | protein_coding | 3668 | chr19 | TogoVar | ||||||
SPIB_chr19_50413938_50436314 | 50434981 | T | TTGGGTCT others(30): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(32): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0007others(1): Show | a0001c0002t0003a0001c0003t0001a0001c0003t0003others(4): Show | a0001c0002t0003g0008a0001c0002t0003g0022a0001c0002t0003g0026others(19): Show | 35 | 388 | 0.0902 | 37 | c.*66 others(48): Show |
SPIB | ENSG00000269404.7 | transcript | ENST00000595883.6 | protein_coding | 3668 | chr19 | TogoVar | ||||||
SPICE1_chr3_113437718_113520156 | 113480912 | T | TAAAGAAA others(30): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 364 | 0.0028 | 37 | c.611 others(54): Show |
SPICE1 | ENSG00000163611.11 | transcript | ENST00000295872.8 | protein_coding | 7/17 | chr3 | TogoVar | ||||||
SPICE1_chr3_113437718_113520156 | 113480931 | A | AGAAAGAA others(30): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01106.hp2 HG01243.hp2 others(7): Show |
a0001a0005 | a0001c0002a0001c0004a0005c0009 | a0001c0002t0003a0001c0002t0007a0001c0002t0014others(2): Show | a0001c0002t0003g0249a0001c0002t0003g0250a0001c0002t0003g0273others(7): Show | 10 | 364 | 0.0275 | 37 | c.611 others(54): Show |
SPICE1 | ENSG00000163611.11 | transcript | ENST00000295872.8 | protein_coding | 7/17 | chr3 | TogoVar | ||||||
SPINK13_chr5_148263794_148291255 | 148284171 | T | TTTCCTCC others(30): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01069.hp2 HG01071.hp1 others(92): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0010others(37): Show | 95 | 376 | 0.2527 | 37 | c.237 others(54): Show |
SPINK13 | ENSG00000214510.10 | transcript | ENST00000398450.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SPINK2_chr4_56804861_56826701 | 56821746 | A | AGGGCGGG others(30): Show |
upstream_gene_variant | MODIFIER | NA18998.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0011 | 1 | 428 | 0.0023 | 37 | c.-85 others(44): Show |
SPINK2 | ENSG00000128040.13 | transcript | ENST00000506738.6 | protein_coding | 46 | chr4 | TogoVar | ||||||
SPINK5_chr5_148058980_148142382 | 148123414 | T | TTATATAT others(30): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02965.hp1 HG03098.hp2 others(6): Show |
a0007 | a0007c0008 | a0007c0008t0005a0007c0008t0006 | a0007c0008t0005g0138a0007c0008t0005g0139a0007c0008t0005g0140others(6): Show | 9 | 384 | 0.0234 | 37 | c.253 others(54): Show |
SPINK5 | ENSG00000133710.17 | transcript | ENST00000256084.8 | protein_coding | 26/32 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SPIRE1_chr18_12441512_12663107 | 12615345 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01069.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0002a0001c0001t0007g0007a0001c0001t0007g0008 | 3 | 328 | 0.0092 | 37 | c.372 others(56): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89869045 | A | ACATATAT others(30): Show |
intron_variant | MODIFIER | HG01175.hp1 NA18947.hp2 |
a0002a0005 | a0002c0002a0005c0007 | a0002c0002t0002a0005c0007t0002 | a0002c0002t0002g0024a0005c0007t0002g0036 | 2 | 356 | 0.0056 | 37 | c.180 others(54): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 13/14 | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89869053 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02647.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0175a0001c0001t0001g0178a0001c0001t0001g0179others(1): Show | 4 | 356 | 0.0112 | 37 | c.180 others(54): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SPIRE2_chr16_89823475_89876319 | 89869053 | A | AAAAACAT others(30): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0338 | 1 | 356 | 0.0028 | 37 | c.180 others(54): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SPIRE2_chr16_89823475_89876319 | 89869053 | A | AAACAAAC others(30): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0345 | 1 | 356 | 0.0028 | 37 | c.180 others(54): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SPNS2_chr17_4493881_4544035 | 4494974 | T | TAAAAAAA others(30): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0356 | 1 | 404 | 0.0025 | 37 | c.-40 others(48): Show |
SPNS2 | ENSG00000183018.9 | transcript | ENST00000329078.8 | protein_coding | 3906 | chr17 | TogoVar | ||||||
SPOCD1_chr1_31785422_31821022 | 31817120 | A | ATATATAT others(30): Show |
upstream_gene_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 260 | 0.0039 | 37 | c.-12 others(48): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 1099 | chr1 | TogoVar | ||||||
SPOCK3_chr4_166728384_167239494 | 167205406 | T | TTATATAT others(30): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0104 | 1 | 144 | 0.0069 | 37 | c.189 others(56): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | ||||||
SPPL2B_chr19_2323684_2360095 | 2347577 | A | ACACACAC others(30): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0295 | 1 | 414 | 0.0024 | 37 | c.135 others(56): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SPPL3_chr12_120757510_120909358 | 120852588 | T | TATATGAA others(30): Show |
intron_variant | MODIFIER | HG02896.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0021 | a0001c0001t0020g0003a0001c0001t0021g0002 | 2 | 320 | 0.0063 | 37 | c.24- others(54): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54522646 | A | AAGAAAGA others(30): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0319 | 1 | 370 | 0.0027 | 37 | c.-47 others(54): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPTBN1_chr2_54451327_54676446 | 54576055 | C | CTTTTTTT others(30): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0009 | a0001c0009t0007 | a0001c0009t0007g0336 | 1 | 370 | 0.0027 | 37 | c.149 others(56): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SREBF1_chr17_17806334_17841986 | 17829205 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0136 | 1 | 352 | 0.0028 | 37 | c.91+ others(52): Show |
SREBF1 | ENSG00000072310.18 | transcript | ENST00000261646.11 | protein_coding | 1/18 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76062664 | A | ATATATAA others(30): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0189 | 1 | 365 | 0.0027 | 37 | c.562 others(54): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 4/15 | chr17 | TogoVar | ||||||
SRXN1_chr20_641615_658200 | 642300 | G | GGGGCCCA others(30): Show |
downstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0012 | 1 | 422 | 0.0024 | 37 | c.*64 others(48): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4314 | chr20 | TogoVar | ||||||
SSBP3_chr1_54220432_54411394 | 54235448 | A | ATTTTTTT others(30): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0201 | 1 | 280 | 0.0036 | 37 | c.927 others(54): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 14/17 | chr1 | TogoVar | ||||||
SSC5D_chr19_55483436_55524099 | 55495233 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0005 | 1 | 412 | 0.0024 | 37 | c.138 others(54): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SSC5D_chr19_55483436_55524099 | 55495233 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0152 | 1 | 412 | 0.0024 | 37 | c.138 others(54): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SSC5D_chr19_55483436_55524099 | 55495233 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0003 | a0003c0007 | a0003c0007t0002 | a0003c0007t0002g0051 | 1 | 412 | 0.0024 | 37 | c.138 others(54): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SSC5D_chr19_55483436_55524099 | 55495234 | T | TATATATA others(30): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 412 | 0.0024 | 37 | c.138 others(54): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 8/13 | chr19 | TogoVar | ||||||
SSPN_chr12_26190573_26239777 | 26201022 | T | TATAAAAT others(30): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0101 | 1 | 384 | 0.0026 | 37 | c.279 others(54): Show |
SSPN | ENSG00000123096.12 | transcript | ENST00000242729.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SSPN_chr12_26190573_26239777 | 26201024 | T | TATAAAAT others(30): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02622.hp1 HG02723.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0006a0002c0003t0037 | a0002c0003t0006g0100a0002c0003t0006g0102a0002c0003t0006g0103others(1): Show | 4 | 384 | 0.0104 | 37 | c.279 others(54): Show |
SSPN | ENSG00000123096.12 | transcript | ENST00000242729.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |