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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMYD3_chr1_245744347_246512279 | 246255286 | TTTTGATG others(10): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00735.hp1 HG00738.hp1 others(22): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0023 a0001c0001t0001g0054 a0001c0001t0001g0084 others(22): Show |
25 | 150 | 0.1667 | -17 | c.531 others(36): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246282305 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 8 | 0.1250 | -17 | c.531 others(36): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246390214 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG02004.hp2 HG02027.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(10): Show | a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0058 others(18): Show |
21 | 32 | 0.6563 | -17 | c.165 others(36): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246407132 | AAGGTGCT others(10): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00544.hp1 others(27): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(10): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(27): Show |
30 | 150 | 0.2000 | -17 | c.165 others(36): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SMYD4_chr17_1774485_1834902 | 1826491 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(121): Show |
a0003a0006a0008others(9): Show | a0003c0003a0006c0005a0008c0008others(9): Show | a0003c0003t0004a0003c0003t0024a0003c0003t0027others(23): Show | a0003c0003t0004g0002 a0003c0003t0004g0027 a0003c0003t0004g0030 others(110): Show |
124 | 275 | 0.4509 | -17 | c.134 others(34): Show |
SMYD4 | ENSG00000186532.12 | transcript | ENST00000305513.12 | protein_coding | 2/10 | chr17 | TogoVar | |||||||
SNAP25_chr20_10213830_10312418 | 10224257 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 66 | 0.0152 | -17 | c.-64 others(34): Show |
SNAP25 | ENSG00000132639.15 | transcript | ENST00000254976.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNAP91_chr6_83547885_83714101 | 83611863 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0321 | 1 | 124 | 0.0081 | -17 | c.885 others(34): Show |
SNAP91 | ENSG00000065609.15 | transcript | ENST00000369694.7 | protein_coding | 11/29 | chr6 | TogoVar | |||||||
SNAPC3_chr9_15417876_15466626 | 15441383 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01361.hp2 others(5): Show |
a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0008 a0002c0003t0007g0167 a0002c0003t0007g0168 others(3): Show |
8 | 75 | 0.1067 | -17 | c.478 others(34): Show |
SNAPC3 | ENSG00000164975.16 | transcript | ENST00000380821.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SNAPC3_chr9_15417876_15466626 | 15449553 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02895.hp1 HG02896.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0028 a0001c0002t0006g0029 a0001c0002t0006g0247 |
4 | 305 | 0.0131 | -17 | c.733 others(34): Show |
SNAPC3 | ENSG00000164975.16 | transcript | ENST00000380821.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SNCA_chr4_89719099_89842161 | 89738460 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 27 | 0.0370 | -17 | c.307 others(34): Show |
SNCA | ENSG00000145335.17 | transcript | ENST00000394991.8 | protein_coding | 4/5 | chr4 | TogoVar | |||||||
SND1_chr7_127647194_128097593 | 127922175 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 143 | 0.0070 | -17 | c.152 others(36): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SNIP1_chr1_37529449_37559293 | 37545083 | GAATCAGT others(10): Show |
G | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0159 | 1 | 392 | 0.0026 | -17 | c.328 others(34): Show |
SNIP1 | ENSG00000163877.11 | transcript | ENST00000296215.8 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
SNRPC_chr6_34752505_34778857 | 34752678 | CAAAAAAA others(10): Show |
C | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01109.hp1 HG02818.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0096 a0001c0003t0001g0097 a0001c0003t0001g0173 |
3 | 42 | 0.0714 | -17 | c.-48 others(28): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 4826 | chr6 | TogoVar | |||||||
SNRPD3_chr22_24550999_24579971 | 24560428 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp1 HG01109.hp1 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004a0001c0002t0005others(1): Show | a0001c0002t0002g0028 a0001c0002t0002g0048 a0001c0002t0002g0062 others(12): Show |
18 | 33 | 0.5455 | -17 | c.126 others(34): Show |
SNRPD3 | ENSG00000100028.12 | transcript | ENST00000215829.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SNRPE_chr1_203856599_203876152 | 203861007 | AGAGATAC others(10): Show |
A | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02572.hp2 HG02976.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0043 a0001c0001t0001g0055 others(3): Show |
9 | 414 | 0.0217 | -17 | c.-65 others(26): Show |
SNRPE | ENSG00000182004.13 | transcript | ENST00000414487.7 | protein_coding | 591 | chr1 | TogoVar | |||||||
SNTB1_chr8_120530756_120817046 | 120571479 | GTTTTTTT others(10): Show |
G | intron_variant | MODIFIER | HG00639.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011 | a0001c0001t0005g0207 a0001c0001t0011g0211 |
2 | 83 | 0.0241 | -17 | c.113 others(36): Show |
SNTB1 | ENSG00000172164.15 | transcript | ENST00000517992.2 | protein_coding | 4/6 | chr8 | TogoVar | |||||||
SNTB2_chr16_69182164_69314052 | 69280528 | CCGGGCGG others(10): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp1 HG02572.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0172 others(5): Show |
8 | 216 | 0.0370 | -17 | c.114 others(36): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNTB2_chr16_69182164_69314052 | 69310070 | GTTTTTTT others(10): Show |
G | downstream_gene_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0081 | 1 | 19 | 0.0526 | -17 | c.*91 others(28): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 1019 | chr16 | TogoVar | |||||||
SNTG1_chr8_49906407_50801692 | 50462796 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0091 | 1 | 54 | 0.0185 | -17 | c.363 others(36): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 950501 | TGCCCCCC others(10): Show |
T | upstream_gene_variant | MODIFIER | HG02451.hp1 HG03453.hp1 HG03486.hp2 |
a0001a0003 | a0001c0002a0003c0007 | a0001c0002t0002a0003c0007t0002 | a0001c0002t0002g0076 a0003c0007t0002g0075 a0003c0007t0002g0077 |
3 | 188 | 0.0160 | -17 | c.-49 others(26): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 347 | chr2 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 956154 | GCCCCTGC others(10): Show |
G | intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0186 | 1 | 188 | 0.0053 | -17 | c.72+ others(32): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 983168 | AAGCAGAG others(10): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0150 | 1 | 188 | 0.0053 | -17 | c.72+ others(34): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1005803 | CAAAATAT others(10): Show |
C | intron_variant | MODIFIER | HG00438.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0089 | 1 | 187 | 0.0053 | -17 | c.72+ others(34): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1149689 | TTTTTTTT others(10): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG02615.hp2 HG02630.hp2 others(1): Show |
a0003a0006a0016 | a0003c0007a0006c0009a0016c0023 | a0003c0007t0001a0003c0007t0002a0006c0009t0001others(1): Show | a0003c0007t0001g0116 a0003c0007t0002g0077 a0006c0009t0001g0048 others(1): Show |
4 | 188 | 0.0213 | -17 | c.411 others(36): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 6/16 | chr2 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1155424 | GTGTACAC others(10): Show |
G | intron_variant | MODIFIER | NA18984.hp1 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0165 | 1 | 187 | 0.0053 | -17 | c.412 others(36): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNU13_chr22_41668933_41693867 | 41693384 | TTTCCTGA others(10): Show |
T | upstream_gene_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 374 | 0.0027 | -17 | c.-46 others(28): Show |
SNU13 | ENSG00000100138.15 | transcript | ENST00000401959.6 | protein_coding | 4518 | chr22 | TogoVar | |||||||
SNX16_chr8_81794583_81847185 | 81842534 | GAAAACGA others(10): Show |
G | upstream_gene_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0223 | 1 | 298 | 0.0034 | -17 | c.-52 others(26): Show |
SNX16 | ENSG00000104497.15 | transcript | ENST00000345957.9 | protein_coding | 350 | chr8 | TogoVar | |||||||
SNX18_chr5_54512759_54551586 | 54512816 | TCTTTCCT others(10): Show |
T | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01261.hp1 HG02280.hp1 others(8): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0001a0001c0006t0001a0001c0006t0008 | a0001c0002t0001g0011 a0001c0002t0001g0046 a0001c0002t0001g0137 others(8): Show |
11 | 388 | 0.0284 | -17 | c.-51 others(28): Show |
SNX18 | ENSG00000178996.14 | transcript | ENST00000381410.5 | protein_coding | 4942 | chr5 | TogoVar | |||||||
SNX18_chr5_54512759_54551586 | 54513956 | TATATATA others(10): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00438.hp1 others(30): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(7): Show | a0001c0003t0001g0108 a0001c0003t0002g0111 a0001c0003t0004g0114 others(19): Show |
33 | 388 | 0.0851 | -17 | c.-39 others(28): Show |
SNX18 | ENSG00000178996.14 | transcript | ENST00000381410.5 | protein_coding | 3802 | chr5 | TogoVar | |||||||
SNX24_chr5_122840613_123014205 | 122884981 | CCATTTCA others(10): Show |
C | intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 | 1 | 328 | 0.0030 | -17 | c.60+ others(34): Show |
SNX24 | ENSG00000064652.11 | transcript | ENST00000261369.9 | protein_coding | 1/6 | chr5 | TogoVar | |||||||
SNX25_chr4_185204598_185368966 | 185283599 | ATTAACCT others(10): Show |
A | intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 274 | 0.0036 | -17 | c.109 others(36): Show |
SNX25 | ENSG00000109762.17 | transcript | ENST00000652585.2 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SNX25_chr4_185204598_185368966 | 185351051 | GTGTAATT others(10): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG03139.hp1 HG03486.hp1 others(1): Show |
a0001a0003a0010 | a0001c0001a0003c0004a0003c0007others(1): Show | a0001c0001t0001a0003c0004t0001a0003c0007t0001others(1): Show | a0001c0001t0001g0203 a0003c0004t0001g0249 a0003c0007t0001g0184 others(1): Show |
4 | 274 | 0.0146 | -17 | c.230 others(34): Show |
SNX25 | ENSG00000109762.17 | transcript | ENST00000652585.2 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SNX27_chr1_151607050_151704080 | 151675810 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG02132.hp1 HG02970.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011a0001c0001t0023others(4): Show | a0001c0001t0005g0032 a0001c0001t0011g0054 a0001c0001t0023g0141 others(4): Show |
7 | 24 | 0.2917 | -17 | c.114 others(36): Show |
SNX27 | ENSG00000143376.14 | transcript | ENST00000458013.7 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNX27_chr1_151607050_151704080 | 151676270 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(60): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(33): Show | a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 others(58): Show |
63 | 64 | 0.9844 | -17 | c.115 others(36): Show |
SNX27 | ENSG00000143376.14 | transcript | ENST00000458013.7 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNX29_chr16_11971734_12579287 | 12013501 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG02922.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0089 | a0001c0001t0008g0008 a0001c0002t0089g0011 |
2 | 160 | 0.0125 | -17 | c.122 others(36): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 3/20 | chr16 | TogoVar | |||||||
SNX29_chr16_11971734_12579287 | 12476370 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 173 | 0.0058 | -17 | c.203 others(36): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNX29_chr16_11971734_12579287 | 12575846 | TTGTTTTT others(10): Show |
T | downstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0084 | a0001c0002t0084g0066 | 1 | 172 | 0.0058 | -17 | c.*72 others(28): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 1560 | chr16 | TogoVar | |||||||
SNX30_chr9_112745760_112879987 | 112775543 | TGTGTGTG others(10): Show |
T | intron_variant | MODIFIER | HG02129.hp1 NA19002.hp2 NA19088.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0002a0002c0003t0004 | a0002c0003t0002g0009 a0002c0003t0004g0010 a0002c0003t0004g0011 others(1): Show |
4 | 336 | 0.0119 | -17 | c.156 others(36): Show |
SNX30 | ENSG00000148158.17 | transcript | ENST00000374232.8 | protein_coding | 1/8 | chr9 | TogoVar | |||||||
SNX5_chr20_17936600_17973794 | 17956688 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG01261.hp2 NA18939.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0029 a0001c0001t0001g0072 others(4): Show |
16 | 392 | 0.0408 | -17 | c.156 others(32): Show |
SNX5 | ENSG00000089006.17 | transcript | ENST00000377759.9 | protein_coding | 2/12 | chr20 | TogoVar | |||||||
SNX7_chr1_98656721_98765500 | 98663252 | GGTTTTTT others(10): Show |
G | intron_variant | MODIFIER | HG02717.hp2 HG03225.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0021 a0001c0004t0001g0119 |
2 | 12 | 0.1667 | -17 | c.180 others(34): Show |
SNX7 | ENSG00000162627.17 | transcript | ENST00000306121.8 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
SNX8_chr7_2246770_2319441 | 2317251 | CTTTTTTT others(10): Show |
C | upstream_gene_variant | MODIFIER | HG01515.hp2 NA18988.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0267 a0001c0002t0004g0282 |
2 | 12 | 0.1667 | -17 | c.-28 others(28): Show |
SNX8 | ENSG00000106266.11 | transcript | ENST00000222990.8 | protein_coding | 2811 | chr7 | TogoVar | |||||||
SOAT1_chr1_179288797_179363680 | 179295966 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG06807.hp1 NA18966.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0009 | a0001c0001t0006g0012 a0001c0002t0009g0147 |
2 | 7 | 0.2857 | -17 | c.-9+ others(32): Show |
SOAT1 | ENSG00000057252.13 | transcript | ENST00000367619.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SOAT1_chr1_179288797_179363680 | 179351021 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01109.hp2 others(2): Show |
a0001 | a0001c0004a0001c0013 | a0001c0004t0017a0001c0013t0017a0001c0013t0067 | a0001c0004t0017g0080 a0001c0004t0017g0081 a0001c0004t0017g0082 others(2): Show |
5 | 11 | 0.4545 | -17 | c.145 others(34): Show |
SOAT1 | ENSG00000057252.13 | transcript | ENST00000367619.8 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SOAT2_chr12_53098486_53129535 | 53121793 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0031 | 2 | 176 | 0.0114 | -17 | c.123 others(34): Show |
SOAT2 | ENSG00000167780.12 | transcript | ENST00000301466.8 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SOHLH2_chr13_36163217_36219556 | 36173001 | TATTTCAG others(10): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00733.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 a0001c0001t0002g0107 a0001c0001t0002g0108 others(8): Show |
16 | 418 | 0.0383 | -17 | c.100 others(34): Show |
SOHLH2 | ENSG00000120669.16 | transcript | ENST00000379881.8 | protein_coding | 9/10 | chr13 | TogoVar | |||||||
SON_chr21_33538038_33582481 | 33577682 | CACACACA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0199 | 1 | 362 | 0.0028 | -17 | c.*12 others(28): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 202 | chr21 | TogoVar | |||||||
SON_chr21_33538038_33582481 | 33577685 | ACACACAC others(10): Show |
A | downstream_gene_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 361 | 0.0028 | -17 | c.*12 others(28): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 205 | chr21 | TogoVar | |||||||
SORBS2_chr4_185580523_185817194 | 185806434 | CTATTTTT others(10): Show |
C | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0021 | 1 | 5 | 0.2000 | -17 | c.-23 others(36): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 1/26 | chr4 | TogoVar | |||||||
SORBS3_chr8_22546927_22580788 | 22563698 | TATATGTT others(10): Show |
T | intron_variant | MODIFIER | NA18941.hp1 | a0018 | a0018c0029 | a0018c0029t0002 | a0018c0029t0002g0269 | 1 | 428 | 0.0023 | -17 | c.585 others(32): Show |
SORBS3 | ENSG00000120896.14 | transcript | ENST00000240123.12 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SORCS1_chr10_106568663_107169706 | 106750728 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0010 | 1 | 5 | 0.2000 | -17 | c.959 others(36): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 5/25 | chr10 | TogoVar |