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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMURF2_chr17_64537282_64667307 | 64662373 | A | AGGCGGGG others(31): Show |
upstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0002 | 1 | 174 | 0.0058 | 38 | c.-49 others(47): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 67 | chr17 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246481607 | T | TATATATA others(31): Show |
intron_variant | MODIFIER | HG00735.hp2 NA19090.hp2 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0002a0001c0006t0001 | a0001c0002t0002g0083a0001c0006t0001g0048 | 2 | 150 | 0.0133 | 38 | c.164 others(57): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246481607 | T | TATATATA others(31): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01952.hp1 HG02300.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0042a0001c0001t0001g0046a0001c0001t0001g0069others(1): Show | 4 | 150 | 0.0267 | 38 | c.164 others(57): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
SNAP23_chr15_42490634_42538058 | 42525451 | C | CTTTTTTT others(31): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0236 | 1 | 308 | 0.0033 | 38 | c.267 others(55): Show |
SNAP23 | ENSG00000092531.10 | transcript | ENST00000249647.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SNAP91_chr6_83547885_83714101 | 83628222 | C | CATATATA others(31): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0348 | 1 | 366 | 0.0027 | 38 | c.766 others(55): Show |
SNAP91 | ENSG00000065609.15 | transcript | ENST00000369694.7 | protein_coding | 8/29 | chr6 | TogoVar | ||||||
SNAPC2_chr19_7915338_7928250 | 7926622 | T | TTCCTGTC others(31): Show |
downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 430 | 0.0023 | 38 | c.*38 others(49): Show |
SNAPC2 | ENSG00000104976.13 | transcript | ENST00000221573.11 | protein_coding | 3373 | chr19 | TogoVar | ||||||
SNCA_chr4_89719099_89842161 | 89802618 | T | TTCTTTCT others(31): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 338 | 0.0030 | 38 | c.306 others(57): Show |
SNCA | ENSG00000145335.17 | transcript | ENST00000394991.8 | protein_coding | 4/5 | chr4 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241047944 | T | TGGTGCTT others(31): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02965.hp1 NA20300.hp1 |
a0002a0008 | a0002c0008a0008c0032 | a0002c0008t0019a0008c0032t0021 | a0002c0008t0019g0227a0008c0032t0021g0328a0008c0032t0021g0329 | 3 | 344 | 0.0087 | 38 | c.127 others(55): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 8/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNED1_chr2_240993618_241100568 | 241047982 | T | TGGTGCTT others(31): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02970.hp2 HG02976.hp1 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0068a0002c0010a0002c0064others(4): Show | a0001c0068t0018a0002c0010t0016a0002c0010t0019others(5): Show | a0001c0068t0018g0320a0002c0010t0016g0033a0002c0010t0016g0157others(6): Show | 9 | 344 | 0.0262 | 38 | c.127 others(55): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 8/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNED1_chr2_240993618_241100568 | 241048003 | A | ATCCTGGG others(31): Show |
intron_variant | MODIFIER | HG01884.hp1 HG06807.hp1 |
a0002 | a0002c0010a0002c0018 | a0002c0010t0014a0002c0018t0022 | a0002c0010t0014g0222a0002c0018t0022g0223 | 2 | 344 | 0.0058 | 38 | c.127 others(55): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 8/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNIP1_chr1_37529449_37559293 | 37535230 | T | TTATATAT others(31): Show |
3_prime_UTR_variant | MODIFIER | HG02572.hp1 HG02896.hp1 HG02897.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0071 | a0001c0001t0009g0031a0001c0001t0009g0171a0001c0001t0009g0175others(3): Show | 7 | 394 | 0.0178 | 38 | c.*25 others(49): Show |
SNIP1 | ENSG00000163877.11 | transcript | ENST00000296215.8 | protein_coding | 4/4 | 2517 | chr1 | TogoVar | |||||
SNIP1_chr1_37529449_37559293 | 37535239 | T | TATATATA others(31): Show |
3_prime_UTR_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG01175.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0055 | a0001c0001t0021g0112a0001c0001t0021g0114a0001c0001t0021g0127others(1): Show | 4 | 394 | 0.0102 | 38 | c.*25 others(49): Show |
SNIP1 | ENSG00000163877.11 | transcript | ENST00000296215.8 | protein_coding | 4/4 | 2508 | chr1 | TogoVar | |||||
SNRK_chr3_43281540_43356143 | 43296423 | T | TATATATA others(31): Show |
intron_variant | MODIFIER | HG02886.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0009 | 2 | 258 | 0.0078 | 38 | c.-16 others(57): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SNTB2_chr16_69182164_69314052 | 69292364 | A | ATATAATA others(31): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0065 | 1 | 218 | 0.0046 | 38 | c.134 others(57): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SNTG1_chr8_49906407_50801692 | 49938603 | T | TTTTCTTT others(31): Show |
intron_variant | MODIFIER | HG02698.hp1 HG02886.hp1 HG03453.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0002g0067a0001c0001t0004g0072a0001c0001t0008g0071others(4): Show | 7 | 106 | 0.0660 | 38 | c.-10 others(59): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SNTG1_chr8_49906407_50801692 | 49938603 | T | TTTTTTTT others(31): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0060 | 1 | 106 | 0.0094 | 38 | c.-10 others(59): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SNTG1_chr8_49906407_50801692 | 50701618 | C | CTTCTTCT others(31): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 | 1 | 106 | 0.0094 | 38 | c.103 others(57): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 15/18 | chr8 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1056387 | C | CGCTGTGC others(31): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0149 | 1 | 190 | 0.0053 | 38 | c.73- others(55): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1222031 | A | ATCTCTGT others(31): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0093 | 1 | 190 | 0.0053 | 38 | c.719 others(57): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1222117 | C | CTCTGTCT others(31): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0021 | 1 | 190 | 0.0053 | 38 | c.719 others(57): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1255855 | T | TATATATA others(31): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG01257.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0056a0001c0001t0001g0078a0001c0001t0001g0179others(2): Show | 5 | 190 | 0.0263 | 38 | c.100 others(57): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1255875 | T | TATATATA others(31): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01074.hp2 |
a0013 | a0013c0020 | a0013c0020t0001 | a0013c0020t0001g0142a0013c0020t0001g0143 | 2 | 190 | 0.0105 | 38 | c.100 others(57): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1316560 | T | TCCCTTAT others(31): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(105): Show |
a0001a0003a0006others(11): Show | a0001c0001a0001c0002a0003c0007others(19): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(23): Show | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0024others(105): Show | 108 | 190 | 0.5684 | 38 | c.148 others(55): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNX10_chr7_26286862_26379383 | 26325306 | A | AATATATA others(31): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01243.hp1 HG01928.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0077a0001c0001t0001g0084a0001c0001t0001g0085others(9): Show | 12 | 390 | 0.0308 | 38 | c.-23 others(57): Show |
SNX10 | ENSG00000086300.17 | transcript | ENST00000338523.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SNX12_chrX_71054247_71073334 | 71071522 | T | TATATATT others(31): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0010 | 1 | 309 | 0.0032 | 38 | c.-32 others(49): Show |
SNX12 | ENSG00000147164.12 | transcript | ENST00000374274.8 | protein_coding | 3189 | chrX | TogoVar | ||||||
SNX18_chr5_54512759_54551586 | 54513823 | A | ATATATAT others(31): Show |
upstream_gene_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0118 | 1 | 390 | 0.0026 | 38 | c.-41 others(49): Show |
SNX18 | ENSG00000178996.14 | transcript | ENST00000381410.5 | protein_coding | 3935 | chr5 | TogoVar | ||||||
SNX18_chr5_54512759_54551586 | 54514178 | T | TAAATTTA others(31): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG01071.hp2 HG01081.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0018others(10): Show | 19 | 390 | 0.0487 | 38 | c.-37 others(49): Show |
SNX18 | ENSG00000178996.14 | transcript | ENST00000381410.5 | protein_coding | 3580 | chr5 | TogoVar | ||||||
SNX27_chr1_151607050_151704080 | 151681783 | C | CTTTTTAG others(31): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01256.hp2 HG01346.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0064a0001c0001t0157others(2): Show | a0001c0001t0008g0025a0001c0001t0064g0026a0001c0001t0157g0050others(2): Show | 5 | 366 | 0.0137 | 38 | c.115 others(57): Show |
SNX27 | ENSG00000143376.14 | transcript | ENST00000458013.7 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SNX29_chr16_11971734_12579287 | 12476395 | T | TATATATA others(31): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0112 | a0001c0001t0112g0139 | 1 | 176 | 0.0057 | 38 | c.203 others(57): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SNX2_chr5_122770080_122839543 | 122806142 | G | GCGCGCGC others(31): Show |
intron_variant | MODIFIER | HG02071.hp1 NA19005.hp1 NA19077.hp2 |
a0001 | a0001c0002 | a0001c0002t0016a0001c0002t0024a0001c0002t0067 | a0001c0002t0016g0148a0001c0002t0024g0160a0001c0002t0067g0150 | 3 | 372 | 0.0081 | 38 | c.644 others(55): Show |
SNX2 | ENSG00000205302.7 | transcript | ENST00000379516.7 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SNX2_chr5_122770080_122839543 | 122806142 | G | GCGCGCGC others(31): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0156 | 1 | 372 | 0.0027 | 38 | c.644 others(55): Show |
SNX2 | ENSG00000205302.7 | transcript | ENST00000379516.7 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SNX30_chr9_112745760_112879987 | 112865661 | A | ATATATAT others(31): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01175.hp1 |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0003a0002c0003t0004g0004 | 2 | 338 | 0.0059 | 38 | c.125 others(57): Show |
SNX30 | ENSG00000148158.17 | transcript | ENST00000374232.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SNX30_chr9_112745760_112879987 | 112865661 | A | ATATGTGT others(31): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0013 | 1 | 338 | 0.0030 | 38 | c.125 others(57): Show |
SNX30 | ENSG00000148158.17 | transcript | ENST00000374232.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SNX9_chr6_157818246_157950077 | 157844587 | G | GTTTTTTT others(31): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0050 | 1 | 302 | 0.0033 | 38 | c.12+ others(55): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SNX9_chr6_157818246_157950077 | 157915640 | A | AAAAAAAA others(31): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0262 | 1 | 302 | 0.0033 | 38 | c.949 others(55): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SOAT1_chr1_179288797_179363680 | 179353199 | T | TTATATAT others(31): Show |
intron_variant | MODIFIER | HG02135.hp1 NA18942.hp2 NA18950.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0060 | a0001c0001t0006g0017a0001c0001t0006g0019a0001c0001t0006g0020others(2): Show | 5 | 382 | 0.0131 | 38 | c.159 others(55): Show |
SOAT1 | ENSG00000057252.13 | transcript | ENST00000367619.8 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SOBP_chr6_107485117_107666306 | 107564581 | A | AACTAACT others(31): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292 | 1 | 296 | 0.0034 | 38 | c.574 others(57): Show |
SOBP | ENSG00000112320.12 | transcript | ENST00000317357.10 | protein_coding | 4/6 | chr6 | TogoVar | ||||||
SOCS7_chr17_38346844_38410593 | 38387646 | C | CTATATAT others(31): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01109.hp1 HG02572.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0016a0001c0002t0011g0017a0001c0002t0011g0018others(2): Show | 5 | 289 | 0.0173 | 38 | c.168 others(57): Show |
SOCS7 | ENSG00000274211.6 | transcript | ENST00000612932.6 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
SOHLH2_chr13_36163217_36219556 | 36214661 | A | AAAGTGGC others(31): Show |
upstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0212 | 1 | 420 | 0.0024 | 38 | c.-13 others(47): Show |
SOHLH2 | ENSG00000120669.16 | transcript | ENST00000379881.8 | protein_coding | 106 | chr13 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7295018 | T | TCTCCTCT others(31): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0009 | a0009c0025 | a0009c0025t0031 | a0009c0025t0031g0025 | 1 | 168 | 0.0060 | 38 | c.481 others(59): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SORCS2_chr4_7187538_7747827 | 7373478 | A | ATATATAT others(31): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0015 | a0001c0015t0011 | a0001c0015t0011g0015 | 1 | 168 | 0.0060 | 38 | c.481 others(57): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SORCS2_chr4_7187538_7747827 | 7373478 | A | ATATATAT others(31): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0094 | 1 | 168 | 0.0060 | 38 | c.481 others(57): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SORCS2_chr4_7187538_7747827 | 7373478 | A | ATATATAT others(31): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0012 | 1 | 168 | 0.0060 | 38 | c.481 others(57): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SORCS2_chr4_7187538_7747827 | 7525881 | C | CCCTCCTC others(31): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01361.hp2 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0007a0001c0006t0001 | a0001c0002t0007g0008a0001c0006t0001g0054 | 2 | 168 | 0.0119 | 38 | c.549 others(55): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SORCS2_chr4_7187538_7747827 | 7641858 | G | GGATGGGT others(31): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(84): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(68): Show | a0001c0001t0002g0089a0001c0001t0003g0048a0001c0001t0003g0098others(84): Show | 87 | 168 | 0.5179 | 38 | c.813 others(55): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SORCS2_chr4_7187538_7747827 | 7661241 | T | TGCAGAGA others(31): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01346.hp1 HG02572.hp2 others(4): Show |
a0001a0005a0007others(3): Show | a0001c0002a0001c0029a0005c0008others(4): Show | a0001c0002t0054a0001c0029t0074a0005c0008t0001others(4): Show | a0001c0002t0054g0050a0001c0029t0074g0162a0005c0008t0001g0029others(4): Show | 7 | 168 | 0.0417 | 38 | c.888 others(53): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SORCS2_chr4_7187538_7747827 | 7706449 | G | GCTGGGCT others(31): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0002 | a0001c0002t0067 | a0001c0002t0067g0115 | 1 | 168 | 0.0060 | 38 | c.186 others(57): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SORCS3_chr10_104636290_105270242 | 105242504 | A | ATATATAT others(31): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00741.hp2 HG01070.hp1 others(28): Show |
a0001a0004a0009 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0010a0001c0002t0002others(5): Show | a0001c0001t0002g0011a0001c0001t0002g0014a0001c0001t0002g0016others(28): Show | 31 | 134 | 0.2313 | 38 | c.286 others(57): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SOX5_chr12_23524504_23954670 | 23530818 | T | TGTGTGTG others(31): Show |
3_prime_UTR_variant | MODIFIER | HG02165.hp2 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0096a0001c0001t0097 | a0001c0001t0096g0074a0001c0001t0097g0062 | 2 | 212 | 0.0094 | 38 | c.*34 others(49): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 15/15 | 3400 | chr12 | TogoVar | |||||
SOX5_chr12_23524504_23954670 | 23530818 | T | TGTGTGTG others(31): Show |
3_prime_UTR_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0094 | a0001c0001t0094g0133 | 1 | 212 | 0.0047 | 38 | c.*34 others(49): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 15/15 | 3400 | chr12 | TogoVar |