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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SOBP_chr6_107485117_107666306 | 107610796 | GCACACA | G | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00673.hp2 others(72): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0043 others(72): Show |
75 | 296 | 0.2534 | -6 | c.670 others(25): Show |
SOBP | ENSG00000112320.12 | transcript | ENST00000317357.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SOBP_chr6_107485117_107666306 | 107630744 | CACTCTG | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp1 others(61): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0015 others(61): Show |
64 | 296 | 0.2162 | -6 | c.670 others(23): Show |
SOBP | ENSG00000112320.12 | transcript | ENST00000317357.10 | protein_coding | 5/6 | chr6 | TogoVar | |||||||
SOBP_chr6_107485117_107666306 | 107630750 | GTCTCTC | G | intron_variant | MODIFIER | HG02109.hp1 HG02922.hp2 HG03139.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0001g0143 a0001c0001t0004g0163 a0001c0001t0007g0202 others(2): Show |
5 | 296 | 0.0169 | -6 | c.670 others(23): Show |
SOBP | ENSG00000112320.12 | transcript | ENST00000317357.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SOBP_chr6_107485117_107666306 | 107656337 | AAGAAAG | A | intron_variant | MODIFIER | HG02135.hp2 HG03041.hp1 HG03041.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0044a0001c0001t0045others(1): Show | a0001c0001t0001g0106 a0001c0001t0044g0230 a0001c0001t0045g0284 others(1): Show |
4 | 296 | 0.0135 | -6 | c.*4- others(21): Show |
SOBP | ENSG00000112320.12 | transcript | ENST00000317357.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SOCS1_chr16_11249417_11261204 | 11252251 | GCGCACA | G | downstream_gene_variant | MODIFIER | HG01981.hp1 HG01981.hp2 HG02083.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 14 | 432 | 0.0324 | -6 | c.*25 others(17): Show |
SOCS1 | ENSG00000185338.7 | transcript | ENST00000332029.4 | protein_coding | 2165 | chr16 | TogoVar | |||||||
SOCS1_chr16_11249417_11261204 | 11252258 | CACACAA | C | downstream_gene_variant | MODIFIER | HG02895.hp1 NA19030.hp2 NA19075.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0027 |
3 | 432 | 0.0069 | -6 | c.*25 others(17): Show |
SOCS1 | ENSG00000185338.7 | transcript | ENST00000332029.4 | protein_coding | 2158 | chr16 | TogoVar | |||||||
SOCS1_chr16_11249417_11261204 | 11253097 | AAAAAAG | A | downstream_gene_variant | MODIFIER | HG01261.hp2 HG02083.hp2 HG02258.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0003g0004 |
6 | 432 | 0.0139 | -6 | c.*17 others(17): Show |
SOCS1 | ENSG00000185338.7 | transcript | ENST00000332029.4 | protein_coding | 1319 | chr16 | TogoVar | |||||||
SOCS1_chr16_11249417_11261204 | 11258054 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG00741.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0003 a0001c0001t0002g0002 a0001c0003t0001g0025 |
8 | 432 | 0.0185 | -6 | c.-20 others(17): Show |
SOCS1 | ENSG00000185338.7 | transcript | ENST00000332029.4 | protein_coding | 1851 | chr16 | TogoVar | |||||||
SOCS3_chr17_78351778_78365077 | 78362309 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00597.hp1 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0001g0001 a0001c0001t0004g0004 a0001c0001t0007g0006 others(1): Show |
51 | 468 | 0.1090 | -6 | c.-26 others(17): Show |
SOCS3 | ENSG00000184557.4 | transcript | ENST00000330871.3 | protein_coding | 2233 | chr17 | TogoVar | |||||||
SOCS4_chr14_55022236_55054489 | 55041783 | CTTTTTT | C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01099.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0014 | a0001c0001t0003g0122 a0001c0001t0006g0013 a0001c0001t0006g0053 others(1): Show |
10 | 394 | 0.0254 | -6 | c.-90 others(23): Show |
SOCS4 | ENSG00000180008.9 | transcript | ENST00000555846.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SOCS5_chr2_46694295_46768129 | 46726738 | AATTATT | A | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp2 HG01123.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(2): Show | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0006g0008 others(20): Show |
28 | 380 | 0.0737 | -6 | c.-13 others(25): Show |
SOCS5 | ENSG00000171150.9 | transcript | ENST00000394861.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SOCS6_chr18_70284045_70335199 | 70289588 | GCGGGCT | G | intron_variant | MODIFIER | HG00140.hp1 HG01081.hp2 HG01167.hp2 others(16): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0013a0001c0001t0020others(3): Show | a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 others(12): Show |
19 | 358 | 0.0531 | -6 | c.-12 others(23): Show |
SOCS6 | ENSG00000170677.6 | transcript | ENST00000397942.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SOCS6_chr18_70284045_70335199 | 70306494 | AAAAAAG | A | intron_variant | MODIFIER | HG02572.hp2 HG02717.hp1 HG02818.hp1 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0009a0001c0005t0011 | a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0259 others(5): Show |
8 | 358 | 0.0224 | -6 | c.-12 others(27): Show |
SOCS6 | ENSG00000170677.6 | transcript | ENST00000397942.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SOCS6_chr18_70284045_70335199 | 70317527 | CGTATAT | C | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02055.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015 | a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0048 others(8): Show |
11 | 358 | 0.0307 | -6 | c.-12 others(25): Show |
SOCS6 | ENSG00000170677.6 | transcript | ENST00000397942.4 | protein_coding | 1/1 | chr18 | TogoVar | |||||||
SOCS7_chr17_38346844_38410593 | 38375327 | CCCTCTT | C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01074.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0005a0001c0004t0030others(1): Show | a0001c0001t0001g0112 a0001c0002t0005g0027 a0001c0002t0005g0028 others(10): Show |
13 | 289 | 0.0450 | -6 | c.155 others(25): Show |
SOCS7 | ENSG00000274211.6 | transcript | ENST00000612932.6 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SOCS7_chr17_38346844_38410593 | 38389865 | GTACATA | G | intron_variant | MODIFIER | HG02717.hp1 HG02723.hp2 HG03225.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0010 | a0002c0003t0010g0004 a0002c0003t0010g0005 a0002c0003t0010g0006 others(1): Show |
4 | 289 | 0.0138 | -6 | c.168 others(25): Show |
SOCS7 | ENSG00000274211.6 | transcript | ENST00000612932.6 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SOCS7_chr17_38346844_38410593 | 38408361 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00544.hp2 others(45): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0020a0001c0001t0034a0001c0002t0002others(4): Show | a0001c0001t0020g0171 a0001c0001t0034g0234 a0001c0002t0002g0001 others(44): Show |
48 | 289 | 0.1661 | -6 | c.*88 others(17): Show |
SOCS7 | ENSG00000274211.6 | transcript | ENST00000612932.6 | protein_coding | 2769 | chr17 | TogoVar | |||||||
SOD1_chr21_31654693_31673931 | 31663118 | ACTTTTT | A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(115): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0031 others(18): Show |
118 | 426 | 0.2770 | -6 | c.73- others(19): Show |
SOD1 | ENSG00000142168.15 | transcript | ENST00000270142.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SOD2_chr6_159664069_159698241 | 159666935 | AGTCTTG | A | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01069.hp2 HG01081.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0025a0001c0001t0026others(4): Show | a0001c0001t0013g0031 a0001c0001t0013g0093 a0001c0001t0013g0094 others(7): Show |
13 | 364 | 0.0357 | -6 | c.*15 others(19): Show |
SOD2 | ENSG00000291237.1 | transcript | ENST00000538183.7 | protein_coding | 2133 | chr6 | TogoVar | |||||||
SOD2_chr6_159664069_159698241 | 159697034 | GACACAC | G | upstream_gene_variant | MODIFIER | HG01361.hp2 HG02055.hp1 HG02080.hp2 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(6): Show | a0001c0001t0002g0002 a0001c0001t0002g0105 a0001c0001t0002g0107 others(12): Show |
21 | 364 | 0.0577 | -6 | c.-38 others(17): Show |
SOD2 | ENSG00000291237.1 | transcript | ENST00000538183.7 | protein_coding | 3794 | chr6 | TogoVar | |||||||
SOGA1_chr20_36772447_36868538 | 36837546 | ACATTAT | A | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG00733.hp1 others(30): Show |
a0001 | a0001c0002a0001c0011a0001c0024 | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(4): Show | a0001c0002t0001g0069 a0001c0002t0001g0083 a0001c0002t0001g0086 others(30): Show |
33 | 282 | 0.1170 | -6 | c.912 others(23): Show |
SOGA1 | ENSG00000149639.15 | transcript | ENST00000237536.9 | protein_coding | 2/14 | chr20 | TogoVar | |||||||
SOGA1_chr20_36772447_36868538 | 36837547 | CATTATT | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00544.hp1 others(115): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0007others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0026 others(115): Show |
118 | 282 | 0.4184 | -6 | c.912 others(23): Show |
SOGA1 | ENSG00000149639.15 | transcript | ENST00000237536.9 | protein_coding | 2/14 | chr20 | TogoVar | |||||||
SOGA1_chr20_36772447_36868538 | 36853700 | GGGGTGT | G | intron_variant | MODIFIER | HG01361.hp1 HG02886.hp2 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0026a0001c0001t0039 | a0001c0001t0001g0045 a0001c0001t0001g0165 a0001c0001t0026g0248 others(1): Show |
4 | 282 | 0.0142 | -6 | c.687 others(23): Show |
SOGA1 | ENSG00000149639.15 | transcript | ENST00000237536.9 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
SOGA1_chr20_36772447_36868538 | 36853702 | GGTGTGT | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(91): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0001 a0001c0001t0001g0048 a0001c0001t0001g0090 others(91): Show |
94 | 282 | 0.3333 | -6 | c.687 others(23): Show |
SOGA1 | ENSG00000149639.15 | transcript | ENST00000237536.9 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
SOGA1_chr20_36772447_36868538 | 36858311 | AACACAC | A | intron_variant | MODIFIER | HG02055.hp2 HG02451.hp2 HG03486.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0003a0001c0002t0004a0002c0004t0009 | a0001c0001t0003g0253 a0001c0001t0003g0255 a0001c0002t0004g0252 others(1): Show |
4 | 282 | 0.0142 | -6 | c.687 others(23): Show |
SOGA1 | ENSG00000149639.15 | transcript | ENST00000237536.9 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
SOGA1_chr20_36772447_36868538 | 36858463 | AACACAC | A | intron_variant | MODIFIER | HG00099.hp1 HG01109.hp2 HG01169.hp2 others(12): Show |
a0001a0003a0004 | a0001c0001a0001c0008a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(4): Show | a0001c0001t0001g0103 a0001c0001t0001g0150 a0001c0001t0001g0152 others(12): Show |
15 | 282 | 0.0532 | -6 | c.687 others(23): Show |
SOGA1 | ENSG00000149639.15 | transcript | ENST00000237536.9 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
SOHLH1_chr9_135688407_135704481 | 135691712 | GACACAC | G | downstream_gene_variant | MODIFIER | HG02818.hp2 HG02886.hp2 HG02976.hp2 others(3): Show |
a0001a0006a0007 | a0001c0001a0006c0005a0007c0009 | a0001c0001t0001a0006c0005t0001a0007c0009t0001 | a0001c0001t0001g0005 a0001c0001t0001g0048 a0006c0005t0001g0019 others(1): Show |
6 | 418 | 0.0144 | -6 | c.*18 others(17): Show |
SOHLH1 | ENSG00000165643.11 | transcript | ENST00000425225.2 | protein_coding | 1694 | chr9 | TogoVar | |||||||
SON_chr21_33538038_33582481 | 33572181 | TTATATA | T | intron_variant | MODIFIER | HG00735.hp2 HG01109.hp1 HG01243.hp1 others(12): Show |
a0001a0005a0008 | a0001c0001a0005c0028a0008c0013 | a0001c0001t0001a0005c0028t0001a0008c0013t0001 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0029 others(8): Show |
15 | 364 | 0.0412 | -6 | c.688 others(25): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SON_chr21_33538038_33582481 | 33577604 | TACACAC | T | downstream_gene_variant | MODIFIER | HG01358.hp1 HG02572.hp1 NA18968.hp2 others(1): Show |
a0001a0002a0004 | a0001c0002a0002c0003a0004c0005 | a0001c0002t0001a0002c0003t0001a0004c0005t0001 | a0001c0002t0001g0006 a0002c0003t0001g0176 a0002c0003t0001g0188 others(1): Show |
4 | 364 | 0.0110 | -6 | c.*11 others(17): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 124 | chr21 | TogoVar | |||||||
SORBS1_chr10_95306773_95566371 | 95308181 | CTAAAGG | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00558.hp1 others(91): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(25): Show | a0001c0001t0001g0156 a0001c0001t0001g0269 a0001c0001t0004g0287 others(91): Show |
94 | 300 | 0.3133 | -6 | c.*68 others(17): Show |
SORBS1 | ENSG00000095637.23 | transcript | ENST00000371247.7 | protein_coding | 3591 | chr10 | TogoVar | |||||||
SORBS1_chr10_95306773_95566371 | 95413966 | CAAAAAA | C | intron_variant | MODIFIER | HG01433.hp2 HG02257.hp1 HG02622.hp1 others(17): Show |
a0001a0011 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(7): Show | a0001c0001t0001g0156 a0001c0001t0003g0026 a0001c0001t0003g0105 others(17): Show |
20 | 300 | 0.0667 | -6 | c.810 others(21): Show |
SORBS1 | ENSG00000095637.23 | transcript | ENST00000371247.7 | protein_coding | 9/32 | chr10 | TogoVar | |||||||
SORBS1_chr10_95306773_95566371 | 95432312 | GACACAC | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00642.hp2 others(38): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0009others(7): Show | a0001c0001t0006a0001c0001t0008a0001c0003t0001others(13): Show | a0001c0001t0006g0053 a0001c0001t0008g0236 a0001c0001t0008g0237 others(38): Show |
41 | 300 | 0.1367 | -6 | c.301 others(21): Show |
SORBS1 | ENSG00000095637.23 | transcript | ENST00000371247.7 | protein_coding | 6/32 | chr10 | TogoVar | |||||||
SORBS1_chr10_95306773_95566371 | 95479957 | ACTCTCT | A | intron_variant | MODIFIER | HG01109.hp2 HG02572.hp1 HG03486.hp1 others(2): Show |
a0001a0002 | a0001c0004a0002c0006 | a0001c0004t0003a0001c0004t0005a0002c0006t0002 | a0001c0004t0003g0022 a0001c0004t0003g0035 a0001c0004t0003g0096 others(2): Show |
5 | 300 | 0.0167 | -6 | c.-46 others(25): Show |
SORBS1 | ENSG00000095637.23 | transcript | ENST00000371247.7 | protein_coding | 2/32 | chr10 | TogoVar | |||||||
SORBS1_chr10_95306773_95566371 | 95528918 | CAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00639.hp2 others(63): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0156 a0001c0001t0003g0026 a0001c0001t0003g0060 others(63): Show |
66 | 300 | 0.2200 | -6 | c.-13 others(27): Show |
SORBS1 | ENSG00000095637.23 | transcript | ENST00000371247.7 | protein_coding | 1/32 | chr10 | TogoVar | |||||||
SORBS1_chr10_95306773_95566371 | 95548448 | CTTTTTT | C | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp2 HG00735.hp1 others(47): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(17): Show | a0001c0001t0003g0064 a0001c0001t0003g0107 a0001c0001t0003g0185 others(47): Show |
50 | 300 | 0.1667 | -6 | c.-13 others(27): Show |
SORBS1 | ENSG00000095637.23 | transcript | ENST00000371247.7 | protein_coding | 1/32 | chr10 | TogoVar | |||||||
SORBS2_chr4_185580523_185817194 | 185631788 | AAAAAAC | A | intron_variant | MODIFIER | HG01074.hp2 HG01433.hp2 HG01891.hp2 others(19): Show |
a0001a0003a0009 | a0001c0002a0001c0005a0001c0006others(8): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0014others(17): Show | a0001c0002t0001g0108 a0001c0002t0003g0174 a0001c0002t0014g0017 others(19): Show |
22 | 312 | 0.0705 | -6 | c.128 others(25): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 16/26 | chr4 | TogoVar | |||||||
SORBS2_chr4_185580523_185817194 | 185731832 | TTCTCTC | T | intron_variant | MODIFIER | HG02129.hp2 HG03579.hp2 NA19085.hp1 |
a0001 | a0001c0001a0001c0023 | a0001c0001t0001a0001c0001t0013a0001c0023t0043 | a0001c0001t0001g0255 a0001c0001t0013g0154 a0001c0023t0043g0005 |
3 | 312 | 0.0096 | -6 | c.-41 others(23): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 3/26 | chr4 | TogoVar | |||||||
SORBS2_chr4_185580523_185817194 | 185731864 | CTCTATA | C | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp2 HG01993.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015 | a0001c0001t0002g0047 a0001c0001t0002g0065 a0001c0001t0015g0268 |
3 | 312 | 0.0096 | -6 | c.-41 others(23): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 3/26 | chr4 | TogoVar | |||||||
SORBS2_chr4_185580523_185817194 | 185731866 | CTATATA | C | intron_variant | MODIFIER | HG01515.hp2 HG01978.hp2 HG02280.hp2 others(8): Show |
a0001a0002a0005 | a0001c0001a0002c0014a0005c0019 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0072 a0001c0001t0002g0184 a0001c0001t0003g0292 others(8): Show |
11 | 312 | 0.0353 | -6 | c.-41 others(23): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 3/26 | chr4 | TogoVar | |||||||
SORBS2_chr4_185580523_185817194 | 185763185 | TCAAAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(83): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0054 others(83): Show |
86 | 312 | 0.2756 | -6 | c.-97 others(25): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 2/26 | chr4 | TogoVar | |||||||
SORBS2_chr4_185580523_185817194 | 185804704 | AATTATT | A | intron_variant | MODIFIER | HG01081.hp1 HG02818.hp1 NA18522.hp1 |
a0001a0002a0003 | a0001c0007a0002c0012a0003c0021 | a0001c0007t0004a0002c0012t0005a0003c0021t0006 | a0001c0007t0004g0021 a0002c0012t0005g0235 a0003c0021t0006g0020 |
3 | 312 | 0.0096 | -6 | c.-23 others(25): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 1/26 | chr4 | TogoVar | |||||||
SORBS3_chr8_22546927_22580788 | 22560832 | CGTGTGT | C | intron_variant | MODIFIER | HG00544.hp2 HG01256.hp2 HG01258.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0013others(3): Show | a0001c0001t0001g0065 a0001c0001t0001g0176 a0001c0001t0001g0221 others(5): Show |
10 | 428 | 0.0234 | -6 | c.479 others(21): Show |
SORBS3 | ENSG00000120896.14 | transcript | ENST00000240123.12 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SORBS3_chr8_22546927_22580788 | 22560868 | TGTGTGC | T | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00621.hp1 others(62): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0027 others(54): Show |
65 | 428 | 0.1519 | -6 | c.479 others(21): Show |
SORBS3 | ENSG00000120896.14 | transcript | ENST00000240123.12 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SORBS3_chr8_22546927_22580788 | 22575902 | TTGTGTG | T | downstream_gene_variant | MODIFIER | HG02723.hp2 HG02818.hp1 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0202 a0001c0001t0001g0297 a0001c0001t0001g0351 others(1): Show |
4 | 428 | 0.0094 | -6 | c.*11 others(17): Show |
SORBS3 | ENSG00000120896.14 | transcript | ENST00000240123.12 | protein_coding | 115 | chr8 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 106581322 | TACACAC | T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(42): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(16): Show | a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0025 others(42): Show |
45 | 130 | 0.3462 | -6 | c.326 others(25): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 24/25 | chr10 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 106588860 | CAAAAAA | C | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02622.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0002t0006a0001c0007t0021others(1): Show | a0001c0001t0001g0055 a0001c0002t0006g0051 a0001c0007t0021g0113 others(4): Show |
7 | 130 | 0.0539 | -6 | c.326 others(25): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 24/25 | chr10 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 106598236 | ATATTAT | A | intron_variant | MODIFIER | HG02451.hp2 NA21309.hp2 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0006a0001c0007t0016 | a0001c0002t0006g0049 a0001c0007t0016g0078 |
2 | 130 | 0.0154 | -6 | c.316 others(23): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 23/25 | chr10 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 106606272 | TATACAC | T | intron_variant | MODIFIER | HG00609.hp2 HG01433.hp1 HG02040.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0003t0001 | a0001c0001t0001g0087 a0001c0001t0004g0004 a0001c0001t0004g0053 others(4): Show |
7 | 130 | 0.0539 | -6 | c.316 others(23): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 23/25 | chr10 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 106606274 | TACACAC | T | intron_variant | MODIFIER | HG00558.hp1 HG02257.hp1 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0004a0001c0013t0007 | a0001c0001t0004g0079 a0001c0013t0007g0065 |
2 | 130 | 0.0154 | -6 | c.316 others(23): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 23/25 | chr10 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 106624346 | ATTTTTT | A | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG00639.hp2 others(23): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0036 a0001c0001t0001g0055 a0001c0001t0002g0066 others(23): Show |
26 | 130 | 0.2000 | -6 | c.266 others(25): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 19/25 | chr10 | TogoVar |