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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPTLC3_chr20_13003972_13174103 | 13040046 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG00642.hp2 others(61): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(22): Show | a0001c0001t0002g0003 a0001c0001t0002g0015 a0001c0001t0002g0016 others(61): Show |
64 | 109 | 0.5872 | -8 | c.118 others(25): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13044995 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(109): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0097 others(109): Show |
112 | 159 | 0.7044 | -8 | c.118 others(25): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13060377 | GTTATTTA others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(112): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0097 others(112): Show |
115 | 205 | 0.5610 | -8 | c.303 others(27): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13067044 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG02622.hp1 HG02895.hp2 |
a0001a0002 | a0001c0005a0001c0012a0002c0002 | a0001c0005t0010a0001c0012t0023a0002c0002t0001 | a0001c0005t0010g0232 a0001c0012t0023g0165 a0002c0002t0001g0201 |
3 | 11 | 0.2727 | -8 | c.304 others(25): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTSSA_chr14_34427788_34467240 | 34443134 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02145.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007a0001c0001t0011 | a0001c0001t0006g0138 a0001c0001t0007g0029 a0001c0001t0007g0273 others(5): Show |
9 | 249 | 0.0361 | -8 | c.113 others(25): Show |
SPTSSA | ENSG00000165389.7 | transcript | ENST00000298130.5 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
SPTSSA_chr14_34427788_34467240 | 34462894 | GCACACAC others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01106.hp2 others(20): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0021a0001c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(19): Show |
23 | 155 | 0.1484 | -8 | c.-69 others(17): Show |
SPTSSA | ENSG00000165389.7 | transcript | ENST00000298130.5 | protein_coding | 655 | chr14 | TogoVar | |||||||
SPTSSA_chr14_34427788_34467240 | 34462934 | ACACACAC others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp2 HG01074.hp2 HG01081.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0101 a0001c0001t0001g0121 a0001c0001t0001g0124 others(12): Show |
15 | 342 | 0.0439 | -8 | c.-73 others(17): Show |
SPTSSA | ENSG00000165389.7 | transcript | ENST00000298130.5 | protein_coding | 695 | chr14 | TogoVar | |||||||
SPTSSA_chr14_34427788_34467240 | 34467217 | AACACACA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG01433.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0023 a0001c0001t0001g0037 a0001c0001t0001g0092 others(10): Show |
14 | 60 | 0.2333 | -8 | c.-50 others(19): Show |
SPTSSA | ENSG00000165389.7 | transcript | ENST00000298130.5 | protein_coding | 4978 | chr14 | TogoVar | |||||||
SPTSSB_chr3_161339798_161376517 | 161369286 | TTTTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG02602.hp1 HG02723.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0040 a0001c0001t0002g0117 a0001c0001t0009g0062 |
4 | 371 | 0.0108 | -8 | c.-12 others(27): Show |
SPTSSB | ENSG00000196542.9 | transcript | ENST00000620149.2 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
SQLE_chr8_124993505_125027283 | 125001482 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp1 others(57): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(25): Show |
60 | 376 | 0.1596 | -8 | c.292 others(25): Show |
SQLE | ENSG00000104549.12 | transcript | ENST00000265896.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SQOR_chr15_45630029_45696281 | 45632195 | CCCCTCCC others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG02280.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0312 others(2): Show |
5 | 293 | 0.0171 | -8 | c.-29 others(19): Show |
SQOR | ENSG00000137767.14 | transcript | ENST00000260324.12 | protein_coding | 2833 | chr15 | TogoVar | |||||||
SQSTM1_chr5_179815905_179843078 | 179843041 | AGAAGGAA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG01255.hp1 HG02572.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0174 a0001c0001t0001g0221 a0001c0001t0003g0129 |
3 | 350 | 0.0086 | -8 | c.*64 others(19): Show |
SQSTM1 | ENSG00000161011.20 | transcript | ENST00000389805.9 | protein_coding | 4964 | chr5 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45421506 | CAAACAAA others(1): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01891.hp2 HG02145.hp1 others(12): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(1): Show | a0001c0001t0001g0065 a0001c0001t0001g0086 a0001c0001t0001g0087 others(12): Show |
15 | 177 | 0.0847 | -8 | c.205 others(27): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 16/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45432003 | GTATTTAT others(1): Show |
G | intron_variant | MODIFIER | HG02027.hp1 HG02965.hp1 NA18949.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0215 a0001c0001t0001g0234 a0002c0002t0001g0106 |
3 | 27 | 0.1111 | -8 | c.205 others(29): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 16/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45465000 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG01261.hp2 HG02257.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(1): Show | a0001c0001t0001g0255 a0001c0001t0006g0357 a0002c0002t0001g0260 others(2): Show |
5 | 211 | 0.0237 | -8 | c.204 others(29): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 16/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45509598 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG02572.hp1 HG02922.hp2 others(4): Show |
a0001a0002a0003others(2): Show | a0001c0014a0002c0002a0002c0004others(3): Show | a0001c0014t0001a0002c0002t0001a0002c0004t0001others(3): Show | a0001c0014t0001g0177 a0002c0002t0001g0024 a0002c0002t0001g0172 others(4): Show |
7 | 45 | 0.1556 | -8 | c.187 others(29): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 14/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45521286 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01168.hp1 HG01169.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 others(7): Show |
10 | 157 | 0.0637 | -8 | c.187 others(29): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 14/20 | chr2 | TogoVar | |||||||
SRCIN1_chr17_38525031_38610952 | 38590739 | CTTAGCCC others(1): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00639.hp1 others(76): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0023others(28): Show | a0001c0001t0001g0137 a0001c0001t0001g0156 a0001c0001t0001g0168 others(69): Show |
79 | 260 | 0.3038 | -8 | c.23- others(25): Show |
SRCIN1 | ENSG00000277363.5 | transcript | ENST00000617146.5 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SRCIN1_chr17_38525031_38610952 | 38596002 | CGGAGAGC others(1): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG01884.hp2 HG02055.hp1 others(26): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0013others(13): Show | a0001c0001t0001g0126 a0001c0001t0009g0125 a0001c0001t0009g0128 others(24): Show |
29 | 260 | 0.1115 | -8 | c.22+ others(23): Show |
SRCIN1 | ENSG00000277363.5 | transcript | ENST00000617146.5 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SRC_chr20_37341140_37411050 | 37361826 | GGTAGAGA others(1): Show |
G | intron_variant | MODIFIER | HG01099.hp1 HG01346.hp2 HG01361.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0024a0001c0001t0037others(1): Show | a0001c0001t0001g0088 a0001c0001t0001g0269 a0001c0001t0024g0263 others(2): Show |
5 | 243 | 0.0206 | -8 | c.-24 others(27): Show |
SRC | ENSG00000197122.13 | transcript | ENST00000373578.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SRC_chr20_37341140_37411050 | 37365319 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00544.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0086 others(21): Show |
25 | 42 | 0.5952 | -8 | c.-17 others(23): Show |
SRC | ENSG00000197122.13 | transcript | ENST00000373578.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SRC_chr20_37341140_37411050 | 37373243 | TACACACG others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00609.hp1 others(87): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0023 a0001c0001t0001g0060 a0001c0001t0001g0061 others(84): Show |
90 | 280 | 0.3214 | -8 | c.-17 others(27): Show |
SRC | ENSG00000197122.13 | transcript | ENST00000373578.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SRD5A2_chr2_31517480_31585938 | 31554924 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00597.hp2 others(37): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0021a0002c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0019 others(31): Show |
40 | 152 | 0.2632 | -8 | c.282 others(27): Show |
SRD5A2 | ENSG00000277893.2 | transcript | ENST00000622030.2 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
SRD5A2_chr2_31517480_31585938 | 31559836 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG01361.hp2 HG01891.hp1 HG02818.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0032a0002c0002t0001 | a0001c0001t0001g0195 a0001c0001t0032g0277 a0002c0002t0001g0106 |
3 | 88 | 0.0341 | -8 | c.281 others(27): Show |
SRD5A2 | ENSG00000277893.2 | transcript | ENST00000622030.2 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
SRD5A3_chr4_55341242_55378100 | 55343115 | CAAAAAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00597.hp2 others(39): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0020 a0001c0001t0001g0036 a0001c0001t0001g0170 others(35): Show |
42 | 47 | 0.8936 | -8 | c.-32 others(19): Show |
SRD5A3 | ENSG00000128039.13 | transcript | ENST00000264228.9 | protein_coding | 3126 | chr4 | TogoVar | |||||||
SRD5A3_chr4_55341242_55378100 | 55368396 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(93): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0012others(10): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0019 others(79): Show |
96 | 292 | 0.3288 | -8 | c.697 others(23): Show |
SRD5A3 | ENSG00000128039.13 | transcript | ENST00000264228.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SRD5A3_chr4_55341242_55378100 | 55370400 | TAACCGAA others(1): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(99): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0012others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(81): Show |
102 | 382 | 0.2670 | -8 | c.*31 others(17): Show |
SRD5A3 | ENSG00000128039.13 | transcript | ENST00000264228.9 | protein_coding | 5/5 | 319 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SRD5A3_chr4_55341242_55378100 | 55370431 | TCACACAC others(1): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02572.hp1 NA19030.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020a0001c0001t0047 | a0001c0001t0001g0168 a0001c0001t0020g0120 a0001c0001t0047g0082 |
3 | 55 | 0.0545 | -8 | c.*37 others(17): Show |
SRD5A3 | ENSG00000128039.13 | transcript | ENST00000264228.9 | protein_coding | 5/5 | 375 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SREBF1_chr17_17806334_17841986 | 17808406 | TTTATTTT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00408.hp1 HG01884.hp2 HG02258.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0020 | a0001c0001t0001g0039 a0001c0001t0004g0005 a0001c0001t0004g0159 others(4): Show |
11 | 350 | 0.0314 | -8 | c.*42 others(19): Show |
SREBF1 | ENSG00000072310.18 | transcript | ENST00000261646.11 | protein_coding | 2927 | chr17 | TogoVar | |||||||
SREBF1_chr17_17806334_17841986 | 17809826 | GCCGACGG others(1): Show |
G | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01099.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 a0001c0001t0001g0157 |
3 | 350 | 0.0086 | -8 | c.*27 others(19): Show |
SREBF1 | ENSG00000072310.18 | transcript | ENST00000261646.11 | protein_coding | 1507 | chr17 | TogoVar | |||||||
SREBF1_chr17_17806334_17841986 | 17829205 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(60): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0010a0002c0003others(3): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(9): Show | a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0017 others(43): Show |
63 | 256 | 0.2461 | -8 | c.91+ others(23): Show |
SREBF1 | ENSG00000072310.18 | transcript | ENST00000261646.11 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SREBF1_chr17_17806334_17841986 | 17833420 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01123.hp2 HG01168.hp1 others(6): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0002a0001c0001t0006a0001c0010t0002 | a0001c0001t0002g0003 a0001c0001t0002g0018 a0001c0001t0002g0019 others(6): Show |
9 | 246 | 0.0366 | -8 | c.91+ others(23): Show |
SREBF1 | ENSG00000072310.18 | transcript | ENST00000261646.11 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SREBF2_chr22_41828105_41912305 | 41852728 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02572.hp2 HG02630.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(1): Show | a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0002g0055 others(3): Show |
6 | 34 | 0.1765 | -8 | c.89- others(25): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SREBF2_chr22_41828105_41912305 | 41864255 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG03017.hp2 HG03225.hp1 NA18522.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003a0002c0002t0007 | a0002c0002t0002g0092 a0002c0002t0002g0161 a0002c0002t0003g0321 others(2): Show |
5 | 321 | 0.0156 | -8 | c.89- others(23): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SREBF2_chr22_41828105_41912305 | 41864257 | TATATACA others(1): Show |
T | intron_variant | MODIFIER | HG00673.hp1 HG02559.hp1 NA18994.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0005 | a0002c0002t0001g0036 a0002c0002t0001g0040 a0002c0002t0005g0057 |
3 | 294 | 0.0102 | -8 | c.89- others(23): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SRFBP1_chr5_121956975_122033633 | 121961698 | AACACACA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG02258.hp1 NA20129.hp1 |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0007a0006c0009t0001 | a0001c0001t0007g0198 a0006c0009t0001g0051 |
2 | 131 | 0.0153 | -8 | c.-33 others(17): Show |
SRFBP1 | ENSG00000151304.6 | transcript | ENST00000339397.5 | protein_coding | 276 | chr5 | TogoVar | |||||||
SRF_chr6_43166269_43186506 | 43183697 | CCTTCCTT others(1): Show |
C | downstream_gene_variant | MODIFIER | NA18747.hp2 NA18945.hp2 NA18992.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0033 |
3 | 354 | 0.0085 | -8 | c.*45 others(19): Show |
SRF | ENSG00000112658.8 | transcript | ENST00000265354.6 | protein_coding | 2192 | chr6 | TogoVar | |||||||
SRGAP1_chr12_63839700_64167217 | 63856252 | CTAAATAA others(1): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01257.hp1 HG01261.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0074a0001c0001t0088a0001c0001t0090others(10): Show | a0001c0001t0074g0055 a0001c0001t0088g0053 a0001c0001t0090g0070 others(10): Show |
13 | 65 | 0.2000 | -8 | c.67+ others(25): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 63868071 | TTTTTTTT others(1): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG03516.hp2 HG03834.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0137a0001c0001t0141a0001c0002t0003others(2): Show | a0001c0001t0137g0010 a0001c0001t0141g0015 a0001c0002t0003g0016 others(2): Show |
5 | 161 | 0.0311 | -8 | c.67+ others(25): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 63958069 | AGAGATAC others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01069.hp1 HG01069.hp2 others(85): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0007a0001c0001t0008a0001c0001t0009others(77): Show | a0001c0001t0007g0060 a0001c0001t0007g0163 a0001c0001t0008g0111 others(85): Show |
88 | 168 | 0.5238 | -8 | c.68- others(25): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 63983797 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG03540.hp2 NA18946.hp2 NA18948.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0072a0001c0001t0101a0001c0001t0103others(3): Show | a0001c0001t0072g0080 a0001c0001t0101g0061 a0001c0001t0103g0025 others(3): Show |
6 | 26 | 0.2308 | -8 | c.68- others(19): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 63992660 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG02698.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0012a0001c0001t0104a0001c0001t0115others(6): Show | a0001c0001t0012g0158 a0001c0001t0104g0003 a0001c0001t0115g0075 others(6): Show |
9 | 20 | 0.4500 | -8 | c.426 others(25): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 64092461 | CATACATA others(1): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG02809.hp2 HG03098.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0135a0001c0001t0136a0001c0001t0137others(2): Show | a0001c0001t0135g0093 a0001c0001t0136g0009 a0001c0001t0137g0010 others(2): Show |
5 | 168 | 0.0298 | -8 | c.153 others(27): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 64101308 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02559.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0129a0001c0001t0139a0001c0001t0140others(4): Show | a0001c0001t0129g0114 a0001c0001t0139g0004 a0001c0001t0140g0006 others(4): Show |
7 | 71 | 0.0986 | -8 | c.181 others(27): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 64123643 | GATTTATT others(1): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG02257.hp2 HG02647.hp2 others(10): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0067a0001c0001t0081a0001c0001t0136others(10): Show | a0001c0001t0067g0008 a0001c0001t0081g0101 a0001c0001t0136g0009 others(10): Show |
13 | 79 | 0.1646 | -8 | c.222 others(27): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP2B_chr1_144882288_145100328 | 144925727 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG01952.hp1 HG02071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0036 a0001c0001t0003g0022 |
2 | 16 | 0.1250 | -8 | c.424 others(27): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | TogoVar | |||||||
SRGAP2B_chr1_144882288_145100328 | 144928404 | GTTATTTA others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00673.hp1 HG00735.hp1 others(12): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(6): Show | a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0026 others(12): Show |
15 | 35 | 0.4286 | -8 | c.424 others(27): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | TogoVar | |||||||
SRGAP2B_chr1_144882288_145100328 | 144944683 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG01258.hp2 HG02129.hp2 HG02135.hp1 others(2): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0002a0005c0008t0005 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0008 others(2): Show |
5 | 19 | 0.2632 | -8 | c.423 others(27): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | TogoVar | |||||||
SRGAP2B_chr1_144882288_145100328 | 144994567 | TGAGAGAG others(1): Show |
T | intron_variant | MODIFIER | HG01952.hp2 HG02071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0036 |
2 | 15 | 0.1333 | -8 | c.260 others(23): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | TogoVar | |||||||
SRGAP2B_chr1_144882288_145100328 | 145030721 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG02129.hp1 HG03831.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0001g0033 others(1): Show |
4 | 38 | 0.1053 | -8 | c.68- others(25): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | TogoVar |