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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPTSSB_chr3_161339798_161376517 | 161369352 | C | CTTTCTTT others(11): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02155.hp2 HG03471.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0017 | a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0005g0081 others(2): Show |
5 | 412 | 0.0121 | 18 | c.-12 others(37): Show |
SPTSSB | ENSG00000196542.9 | transcript | ENST00000620149.2 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
SPTY2D1_chr11_18601403_18639342 | 18610667 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0258 | 1 | 444 | 0.0023 | 18 | c.196 others(35): Show |
SPTY2D1 | ENSG00000179119.15 | transcript | ENST00000336349.6 | protein_coding | 5/5 | chr11 | TogoVar | |||||||
SPTY2D1_chr11_18601403_18639342 | 18610686 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0257 | 1 | 444 | 0.0023 | 18 | c.196 others(35): Show |
SPTY2D1 | ENSG00000179119.15 | transcript | ENST00000336349.6 | protein_coding | 5/5 | chr11 | TogoVar | |||||||
SPTY2D1_chr11_18601403_18639342 | 18622086 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG02293.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0323 a0001c0001t0001g0349 others(1): Show |
5 | 444 | 0.0113 | 18 | c.61- others(33): Show |
SPTY2D1 | ENSG00000179119.15 | transcript | ENST00000336349.6 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
SPTY2D1_chr11_18601403_18639342 | 18622954 | A | AAACAACA others(11): Show |
intron_variant | MODIFIER | NA18959.hp2 NA19055.hp1 NA19066.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 others(1): Show |
4 | 444 | 0.0090 | 18 | c.61- others(33): Show |
SPTY2D1 | ENSG00000179119.15 | transcript | ENST00000336349.6 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
SQLE_chr8_124993505_125027283 | 125025833 | G | GACACACA others(11): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 HG03710.hp2 HG03942.hp1 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0012 | a0001c0002t0003g0007 a0001c0002t0003g0014 a0001c0002t0003g0032 others(8): Show |
13 | 378 | 0.0344 | 18 | c.*38 others(29): Show |
SQLE | ENSG00000104549.12 | transcript | ENST00000265896.10 | protein_coding | 3551 | chr8 | TogoVar | |||||||
SQOR_chr15_45630029_45696281 | 45634198 | C | CTATATAT others(11): Show |
upstream_gene_variant | MODIFIER | HG01074.hp1 HG01099.hp2 HG02896.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0002c0002t0001a0002c0004t0001 | a0001c0001t0001g0007 a0001c0001t0001g0039 a0001c0001t0001g0062 others(3): Show |
6 | 340 | 0.0177 | 18 | c.-92 others(27): Show |
SQOR | ENSG00000137767.14 | transcript | ENST00000260324.12 | protein_coding | 830 | chr15 | TogoVar | |||||||
SQOR_chr15_45630029_45696281 | 45693215 | G | GCCCGAGA others(11): Show |
downstream_gene_variant | MODIFIER | NA19005.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0032 | 1 | 340 | 0.0029 | 18 | c.*21 others(29): Show |
SQOR | ENSG00000137767.14 | transcript | ENST00000260324.12 | protein_coding | 1935 | chr15 | TogoVar | |||||||
SQSTM1_chr5_179815905_179843078 | 179843041 | A | AGAAGAGG others(11): Show |
downstream_gene_variant | MODIFIER | NA18980.hp2 NA18986.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 a0001c0001t0001g0295 |
2 | 462 | 0.0043 | 18 | c.*64 others(29): Show |
SQSTM1 | ENSG00000161011.20 | transcript | ENST00000389805.9 | protein_coding | 4964 | chr5 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45571517 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00733.hp1 others(11): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0328 a0003c0003t0001g0112 a0003c0003t0001g0273 others(11): Show |
14 | 358 | 0.0391 | 18 | c.130 others(37): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 9/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45571520 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 358 | 0.0028 | 18 | c.130 others(37): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 9/20 | chr2 | TogoVar | |||||||
SRD5A2_chr2_31517480_31585938 | 31526104 | C | CATATATA others(11): Show |
3_prime_UTR_variant | MODIFIER | HG00609.hp2 HG01168.hp2 HG01169.hp2 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0014 a0001c0001t0002g0129 a0001c0001t0002g0287 others(45): Show |
49 | 386 | 0.1269 | 18 | c.*91 others(25): Show |
SRD5A2 | ENSG00000277893.2 | transcript | ENST00000622030.2 | protein_coding | 5/5 | 91 | chr2 | TogoVar | ||||||
SRD5A2_chr2_31517480_31585938 | 31549081 | A | AATTATTA others(11): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0041 | 1 | 386 | 0.0026 | 18 | c.282 others(37): Show |
SRD5A2 | ENSG00000277893.2 | transcript | ENST00000622030.2 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
SRD5A3_chr4_55341242_55378100 | 55346203 | G | GCGCGTCC others(11): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00741.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0017others(1): Show | a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0174 others(6): Show |
14 | 384 | 0.0365 | 18 | c.-13 others(27): Show |
SRD5A3 | ENSG00000128039.13 | transcript | ENST00000264228.9 | protein_coding | 38 | chr4 | TogoVar | |||||||
SRD5A3_chr4_55341242_55378100 | 55363884 | T | TGTGTAAC others(11): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0206 | 1 | 384 | 0.0026 | 18 | c.365 others(33): Show |
SRD5A3 | ENSG00000128039.13 | transcript | ENST00000264228.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SREBF1_chr17_17806334_17841986 | 17829205 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 | 1 | 352 | 0.0028 | 18 | c.91+ others(33): Show |
SREBF1 | ENSG00000072310.18 | transcript | ENST00000261646.11 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SREBF1_chr17_17806334_17841986 | 17829205 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 352 | 0.0028 | 18 | c.91+ others(33): Show |
SREBF1 | ENSG00000072310.18 | transcript | ENST00000261646.11 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SREBF1_chr17_17806334_17841986 | 17829205 | A | AAAATATA others(11): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01891.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0291 a0001c0001t0015g0292 a0001c0001t0015g0293 |
3 | 352 | 0.0085 | 18 | c.91+ others(33): Show |
SREBF1 | ENSG00000072310.18 | transcript | ENST00000261646.11 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SREBF2_chr22_41828105_41912305 | 41864223 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0325 | 1 | 336 | 0.0030 | 18 | c.89- others(33): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SREK1IP1_chr5_64713148_64773691 | 64727530 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0067 | 1 | 342 | 0.0029 | 18 | c.278 others(33): Show |
SREK1IP1 | ENSG00000153006.16 | transcript | ENST00000513458.9 | protein_coding | 4/4 | chr5 | TogoVar | |||||||
SREK1_chr5_66139300_66188615 | 66184223 | G | GTTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0196 | 1 | 386 | 0.0026 | 18 | c.*53 others(29): Show |
SREK1 | ENSG00000153914.16 | transcript | ENST00000334121.11 | protein_coding | 609 | chr5 | TogoVar | |||||||
SRFBP1_chr5_121956975_122033633 | 121961746 | C | CACACACA others(11): Show |
upstream_gene_variant | MODIFIER | HG01928.hp2 HG03927.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0168 a0001c0001t0003g0040 a0001c0001t0003g0123 |
3 | 228 | 0.0132 | 18 | c.-28 others(27): Show |
SRFBP1 | ENSG00000151304.6 | transcript | ENST00000339397.5 | protein_coding | 228 | chr5 | TogoVar | |||||||
SRGAP1_chr12_63839700_64167217 | 63919499 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02559.hp2 HG03471.hp1 |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0147a0001c0002t0058a0001c0007t0133 | a0001c0001t0147g0132 a0001c0002t0058g0040 a0001c0007t0133g0103 |
3 | 170 | 0.0177 | 18 | c.68- others(35): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 63954677 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0006 | a0001c0006t0084 | a0001c0006t0084g0018 | 1 | 170 | 0.0059 | 18 | c.68- others(35): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 63954683 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0141 | a0001c0001t0141g0012 | 1 | 170 | 0.0059 | 18 | c.68- others(35): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 64039628 | C | CGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03490.hp2 NA18984.hp2 others(2): Show |
a0001 | a0001c0002a0001c0006a0001c0010 | a0001c0002t0003a0001c0002t0018a0001c0002t0061others(2): Show | a0001c0002t0003g0099 a0001c0002t0018g0068 a0001c0002t0061g0135 others(2): Show |
5 | 170 | 0.0294 | 18 | c.490 others(35): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 64044674 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01517.hp1 HG02056.hp1 HG02132.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0079a0001c0002t0030a0001c0002t0057others(1): Show | a0001c0001t0079g0057 a0001c0002t0030g0059 a0001c0002t0057g0071 others(1): Show |
4 | 170 | 0.0235 | 18 | c.801 others(35): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 64144233 | T | TTTGTTGT others(11): Show |
3_prime_UTR_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0149 | a0001c0001t0149g0156 | 1 | 170 | 0.0059 | 18 | c.*15 others(29): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 22/22 | 1583 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SRGAP1_chr12_63839700_64167217 | 64150934 | C | CAAAAAAA others(11): Show |
3_prime_UTR_variant | MODIFIER | HG00558.hp2 HG02683.hp2 |
a0001 | a0001c0001 | a0001c0001t0080a0001c0001t0102 | a0001c0001t0080g0148 a0001c0001t0102g0166 |
2 | 170 | 0.0118 | 18 | c.*82 others(29): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 22/22 | 8289 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SRGAP2B_chr1_144882288_145100328 | 144883561 | G | GGGGCAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0005 | 1 | 56 | 0.0179 | 18 | c.*85 others(29): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3726 | chr1 | TogoVar | |||||||
SRGAP2C_chr1_121179975_121397874 | 121331144 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 274 | 0.0037 | 18 | c.423 others(35): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2_chr1_206198541_206469436 | 206279581 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | NA18959.hp2 NA18980.hp1 NA19058.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0172 a0001c0003t0006g0173 a0001c0003t0006g0177 others(1): Show |
4 | 182 | 0.0220 | 18 | c.68- others(35): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2_chr1_206198541_206469436 | 206304744 | G | GTTCTTTT others(11): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 182 | 0.0055 | 18 | c.260 others(35): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2_chr1_206198541_206469436 | 206359798 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0140 | 1 | 182 | 0.0055 | 18 | c.423 others(37): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2_chr1_206198541_206469436 | 206427557 | T | TTGAGAGG others(11): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0142 | 1 | 182 | 0.0055 | 18 | c.149 others(37): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 13/22 | chr1 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9123730 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02895.hp1 HG03486.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0002t0004 | a0001c0001t0002g0067 a0001c0001t0005g0206 a0001c0002t0004g0092 |
3 | 228 | 0.0132 | 18 | c.260 others(33): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 2/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9123732 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02895.hp2 HG03139.hp1 NA19067.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0049others(1): Show | a0001c0001t0002g0187 a0001c0001t0003g0113 a0001c0001t0049g0084 others(1): Show |
4 | 228 | 0.0175 | 18 | c.260 others(33): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 2/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9141551 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0069 | 1 | 228 | 0.0044 | 18 | c.68- others(35): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 1/21 | chr3 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4213404 | C | CTTTTTCT others(11): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02280.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0108 a0001c0001t0008g0268 a0001c0001t0008g0278 |
3 | 358 | 0.0084 | 18 | c.62- others(33): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4220278 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02055.hp1 HG02257.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(3): Show | a0001c0001t0001g0010 a0001c0001t0001g0085 a0001c0001t0001g0217 others(8): Show |
11 | 358 | 0.0307 | 18 | c.62- others(35): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
SRP14_chr15_40030690_40044181 | 40037279 | G | GAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG00735.hp2 others(29): Show |
a0001a0007 | a0001c0002a0007c0009 | a0001c0002t0001a0001c0002t0005a0007c0009t0001 | a0001c0002t0001g0005 a0001c0002t0001g0048 a0001c0002t0005g0033 others(1): Show |
32 | 426 | 0.0751 | 18 | c.211 others(33): Show |
SRP14 | ENSG00000140319.11 | transcript | ENST00000267884.11 | protein_coding | 3/4 | chr15 | TogoVar | |||||||
SRP14_chr15_40030690_40044181 | 40037279 | G | GGAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02602.hp2 NA19005.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0057 |
3 | 426 | 0.0070 | 18 | c.211 others(33): Show |
SRP14 | ENSG00000140319.11 | transcript | ENST00000267884.11 | protein_coding | 3/4 | chr15 | TogoVar | |||||||
SRP19_chr5_112856287_112874788 | 112860990 | G | GCACAGTC others(11): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 408 | 0.0025 | 18 | c.-38 others(27): Show |
SRP19 | ENSG00000153037.15 | transcript | ENST00000505459.6 | protein_coding | 296 | chr5 | TogoVar | |||||||
SRP68_chr17_76033785_76077517 | 76070850 | G | GCACACAC others(11): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03490.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 a0001c0001t0002g0151 |
2 | 365 | 0.0055 | 18 | c.185 others(33): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 1/15 | chr17 | TogoVar | |||||||
SRP68_chr17_76033785_76077517 | 76072414 | A | ACCGCCGC others(11): Show |
disruptive_inframe_insertion | MODERATE | HG02486.hp1 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0021 | 1 | 365 | 0.0027 | 18 | c.77_ others(23): Show |
p.Gly others(29): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 1/16 | 103/2831 | 77/1884 | 26/627 | chr17 | TogoVar | |||
SRP68_chr17_76033785_76077517 | 76072432 | A | ACCGCCGC others(11): Show |
disruptive_inframe_insertion | MODERATE | NA18998.hp2 | a0006 | a0006c0014 | a0006c0014t0002 | a0006c0014t0002g0026 | 1 | 365 | 0.0027 | 18 | c.42_ others(23): Show |
p.Gly others(29): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 1/16 | 85/2831 | 59/1884 | 20/627 | chr17 | TogoVar | |||
SRP72_chr4_56462617_56508681 | 56484026 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | NA18944.hp1 NA19001.hp2 NA19009.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0181 a0001c0004t0003g0195 a0001c0004t0003g0203 others(1): Show |
4 | 388 | 0.0103 | 18 | c.958 others(33): Show |
SRP72 | ENSG00000174780.17 | transcript | ENST00000642900.1 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SRP72_chr4_56462617_56508681 | 56484051 | T | TTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02258.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0288 a0001c0001t0014g0289 a0001c0001t0014g0290 |
3 | 388 | 0.0077 | 18 | c.958 others(33): Show |
SRP72 | ENSG00000174780.17 | transcript | ENST00000642900.1 | protein_coding | 9/18 | chr4 | TogoVar | |||||||
SRPK1_chr6_35827966_35926098 | 35880742 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0227 | 1 | 342 | 0.0029 | 18 | c.478 others(35): Show |
SRPK1 | ENSG00000096063.16 | transcript | ENST00000373825.7 | protein_coding | 6/15 | chr6 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105124640 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 a0001c0001t0001g0254 |
2 | 282 | 0.0071 | 18 | c.191 others(37): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 15/15 | chr7 | TogoVar |