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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCD5_chr4_82624539_82803796 | 82712262 | ATATATAT others(29): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0204 | 1 | 208 | 0.0048 | -36 | c.233 others(53): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
SCFD1_chr14_30617319_30740850 | 30625605 | GTATAGGT others(29): Show |
G | intron_variant | MODIFIER | NA18970.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0268 | 1 | 198 | 0.0051 | -36 | c.62- others(51): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCFD1_chr14_30617319_30740850 | 30703910 | CATATATA others(29): Show |
C | intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0323 | 1 | 231 | 0.0043 | -36 | c.149 others(55): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCFD1_chr14_30617319_30740850 | 30703928 | TATATATA others(29): Show |
T | intron_variant | MODIFIER | HG03516.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0041 |
2 | 326 | 0.0061 | -36 | c.149 others(55): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCFD2_chr4_52867982_53371061 | 52875802 | CTATATAT others(29): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG01515.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0004a0001c0005t0004a0002c0002t0001others(1): Show | a0001c0001t0004g0009 a0001c0001t0004g0014 a0001c0001t0004g0044 others(6): Show |
9 | 28 | 0.3214 | -36 | c.196 others(55): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 8/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 52952242 | GCCCCATC others(29): Show |
G | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 156 | 0.0064 | -36 | c.156 others(57): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 5/8 | chr4 | TogoVar | |||||||
SCG3_chr15_51676503_51726026 | 51709685 | ATATATAT others(29): Show |
A | intron_variant | MODIFIER | NA18952.hp2 NA18953.hp1 NA19074.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0199 others(1): Show |
4 | 399 | 0.0100 | -36 | c.120 others(55): Show |
SCG3 | ENSG00000104112.9 | transcript | ENST00000220478.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SCG3_chr15_51676503_51726026 | 51709687 | ATATATAT others(29): Show |
A | intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0200 | 1 | 393 | 0.0025 | -36 | c.120 others(55): Show |
SCG3 | ENSG00000104112.9 | transcript | ENST00000220478.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SCGB2B2_chr19_34585644_34682159 | 34645525 | GACACACA others(29): Show |
G | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0109 | a0001c0001t0109g0267 | 1 | 246 | 0.0041 | -36 | c.-20 others(59): Show |
SCGB2B2 | ENSG00000205209.8 | transcript | ENST00000601241.6 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
SCGN_chr6_25647215_25706783 | 25658003 | CTTTTTTT others(29): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01081.hp2 HG01361.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008 | a0001c0001t0002g0219 a0001c0001t0003g0190 a0001c0001t0003g0191 others(4): Show |
8 | 137 | 0.0584 | -36 | c.154 others(53): Show |
SCGN | ENSG00000079689.15 | transcript | ENST00000377961.3 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SCHIP1_chr3_159268244_159902359 | 159626126 | ATAGATAG others(29): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02451.hp1 HG02630.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0035 a0001c0001t0001g0045 others(5): Show |
8 | 99 | 0.0808 | -36 | c.64- others(55): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCHIP1_chr3_159268244_159902359 | 159704872 | CTTTCTTT others(29): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02486.hp2 HG02698.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0037 others(8): Show |
11 | 100 | 0.1100 | -36 | c.64- others(53): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCML4_chr6_107697154_107829313 | 107778206 | AAAAAAAA others(29): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG03017.hp1 |
a0001a0003 | a0001c0001a0003c0013 | a0001c0001t0001a0003c0013t0004 | a0001c0001t0001g0171 a0003c0013t0004g0038 |
2 | 239 | 0.0084 | -36 | c.-59 others(53): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107778208 | AAAAAAAA others(29): Show |
A | intron_variant | MODIFIER | HG00609.hp2 NA19062.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0005t0011 | a0001c0001t0004g0045 a0001c0005t0011g0039 |
2 | 193 | 0.0104 | -36 | c.-59 others(53): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107778210 | AAAAAAAA others(29): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG02056.hp2 HG02129.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0052 a0001c0001t0003g0007 a0001c0001t0003g0013 others(11): Show |
14 | 218 | 0.0642 | -36 | c.-59 others(53): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107813389 | TATATATA others(29): Show |
T | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0076 | 1 | 248 | 0.0040 | -36 | c.-60 others(55): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCN10A_chr3_38691807_38821217 | 38761129 | TGTCCCTA others(29): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01106.hp2 HG01515.hp1 others(2): Show |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0001 a0001c0008t0001g0115 a0001c0008t0001g0116 others(1): Show |
5 | 369 | 0.0136 | -36 | c.883 others(49): Show |
SCN10A | ENSG00000185313.9 | transcript | ENST00000449082.3 | protein_coding | 7/27 | chr3 | TogoVar | |||||||
SCN2A_chr2_165234414_165397304 | 165291345 | GTCGTTCG others(29): Show |
G | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0200 | 1 | 256 | 0.0039 | -36 | c.-51 others(53): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCN3B_chr11_123624188_123659624 | 123644784 | AGAGAGAG others(29): Show |
A | intron_variant | MODIFIER | HG00738.hp1 NA18983.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0050 | a0001c0001t0002g0222 a0001c0001t0050g0116 |
2 | 448 | 0.0045 | -36 | c.219 others(51): Show |
SCN3B | ENSG00000166257.10 | transcript | ENST00000299333.8 | protein_coding | 3/6 | chr11 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166340540 | CCCTTTCT others(29): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG02258.hp1 others(3): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0017others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(3): Show | a0001c0001t0001g0076 a0001c0003t0001g0286 a0001c0003t0002g0079 others(3): Show |
6 | 218 | 0.0275 | -36 | c.-50 others(55): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 1/26 | chr2 | TogoVar | |||||||
SCNN1B_chr16_23297302_23386294 | 23343581 | GAGAAAGA others(29): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG01346.hp2 HG01496.hp2 others(25): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0006a0001c0006t0001 | a0001c0001t0001g0009 a0001c0001t0001g0025 a0001c0001t0001g0040 others(25): Show |
28 | 140 | 0.2000 | -36 | c.-8- others(51): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1288263 | CTCTGCTC others(29): Show |
C | intron_variant | MODIFIER | HG03139.hp1 NA19005.hp2 NA20905.hp1 |
a0002a0004a0013 | a0002c0002a0004c0008a0013c0042 | a0002c0002t0001a0004c0008t0001a0013c0042t0001 | a0002c0002t0001g0056 a0004c0008t0001g0231 a0013c0042t0001g0128 |
3 | 287 | 0.0105 | -36 | c.166 others(53): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1288356 | TCTGCTCC others(29): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01169.hp2 HG03654.hp2 others(3): Show |
a0001a0022 | a0001c0001a0001c0020a0022c0045 | a0001c0001t0001a0001c0020t0001a0022c0045t0001 | a0001c0001t0001g0178 a0001c0001t0001g0197 a0001c0001t0001g0201 others(3): Show |
6 | 275 | 0.0218 | -36 | c.166 others(53): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1288439 | CCGTGTCT others(29): Show |
C | intron_variant | MODIFIER | HG03139.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0231 | 1 | 288 | 0.0035 | -36 | c.166 others(53): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1288484 | TCTGCTCC others(29): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG02895.hp1 |
a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0156 a0005c0011t0001g0157 |
2 | 278 | 0.0072 | -36 | c.166 others(53): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1289093 | CCCCGTGT others(29): Show |
C | intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0216 | 1 | 265 | 0.0038 | -36 | c.166 others(55): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1289245 | CCGTGTCT others(29): Show |
C | intron_variant | MODIFIER | NA19005.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0056 | 1 | 286 | 0.0035 | -36 | c.166 others(54): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1289498 | TCTGCTCC others(29): Show |
T | intron_variant | MODIFIER | HG00673.hp2 | a0002 | a0002c0028 | a0002c0028t0001 | a0002c0028t0001g0041 | 1 | 275 | 0.0036 | -36 | c.166 others(53): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1289653 | CCGTGTCC others(29): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG03195.hp2 NA18960.hp2 |
a0002a0006a0008 | a0002c0002a0006c0010a0008c0007 | a0002c0002t0001a0006c0010t0007a0008c0007t0004 | a0002c0002t0001g0027 a0006c0010t0007g0268 a0008c0007t0004g0286 |
3 | 287 | 0.0105 | -36 | c.166 others(53): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1290110 | CCGTGTCT others(29): Show |
C | intron_variant | MODIFIER | HG02622.hp2 HG02895.hp1 |
a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0156 a0005c0011t0001g0157 |
2 | 288 | 0.0069 | -36 | c.166 others(53): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1290128 | CCCCGTGT others(29): Show |
C | intron_variant | MODIFIER | HG00642.hp1 | a0011 | a0011c0022 | a0011c0022t0006 | a0011c0022t0006g0131 | 1 | 226 | 0.0044 | -36 | c.166 others(52): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCOC_chr4_140368646_140390728 | 140389153 | TTCAGGTC others(29): Show |
T | downstream_gene_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 416 | 0.0024 | -36 | c.*80 others(47): Show |
SCOC | ENSG00000153130.18 | transcript | ENST00000608372.6 | protein_coding | 3426 | chr4 | TogoVar | |||||||
SCTR_chr2_119434843_119529483 | 119512555 | CCCAGCTA others(29): Show |
C | intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0055 | 1 | 288 | 0.0035 | -36 | c.72+ others(53): Show |
SCTR | ENSG00000080293.10 | transcript | ENST00000019103.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
SCT_chr11_621309_632181 | 628927 | TTCTTTCT others(29): Show |
T | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02257.hp2 others(9): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0002a0004c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0002g0013 others(1): Show |
12 | 408 | 0.0294 | -36 | c.-18 others(47): Show |
SCT | ENSG00000070031.4 | transcript | ENST00000176195.4 | protein_coding | 1747 | chr11 | TogoVar | |||||||
SCUBE3_chr6_35208956_35258079 | 35217025 | GTCTGTGA others(29): Show |
G | intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0178 | 1 | 288 | 0.0035 | -36 | c.85+ others(51): Show |
SCUBE3 | ENSG00000146197.9 | transcript | ENST00000274938.8 | protein_coding | 1/21 | chr6 | TogoVar | |||||||
SCYGR2_chr2_227593893_227604255 | 227598928 | CGGTGGCC others(29): Show |
C | conservative_inframe_deletion | MODERATE | HG00597.hp1 HG01167.hp1 HG01169.hp1 others(28): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0000 | 31 | 450 | 0.0689 | -36 | c.43_ others(41): Show |
p.Arg others(11): Show |
SCYGR2 | ENSG00000284643.1 | transcript | ENST00000641394.1 | protein_coding | 1/1 | 43/363 | 43/363 | 15/120 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
SCYGR2_chr2_227593893_227604255 | 227598938 | TGTGGTGG others(29): Show |
T | disruptive_inframe_deletion | MODERATE | HG00099.hp2 HG00423.hp1 HG00438.hp2 others(89): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 92 | 466 | 0.1974 | -36 | c.105 others(43): Show |
p.Gly others(11): Show |
SCYGR2 | ENSG00000284643.1 | transcript | ENST00000641394.1 | protein_coding | 1/1 | 105/363 | 105/363 | 35/120 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
SDC2_chr8_96488813_96616790 | 96576378 | TGTTTTGT others(29): Show |
T | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0116 | 1 | 288 | 0.0035 | -36 | c.61- others(53): Show |
SDC2 | ENSG00000169439.12 | transcript | ENST00000302190.9 | protein_coding | 1/4 | chr8 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 3655448 | AATATATA others(29): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0034 | a0034c0052 | a0034c0052t0032 | a0034c0052t0032g0107 | 1 | 48 | 0.0208 | -36 | c.713 others(55): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 4/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK2_chr17_73329384_73649445 | 73412100 | ATGTATAC others(29): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00544.hp2 others(36): Show |
a0001a0002a0003others(7): Show | a0001c0005a0001c0008a0001c0010others(19): Show | a0001c0005t0001a0001c0008t0004a0001c0008t0005others(34): Show | a0001c0005t0001g0053 a0001c0008t0004g0051 a0001c0008t0005g0136 others(36): Show |
39 | 202 | 0.1931 | -36 | c.248 others(55): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 18/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73457222 | TCTTCCTT others(29): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02559.hp1 HG02647.hp1 others(5): Show |
a0001a0004a0005others(1): Show | a0001c0010a0001c0018a0001c0025others(4): Show | a0001c0010t0008a0001c0018t0008a0001c0025t0016others(5): Show | a0001c0010t0008g0059 a0001c0018t0008g0016 a0001c0025t0016g0180 others(5): Show |
8 | 111 | 0.0721 | -36 | c.332 others(53): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 3/44 | chr17 | TogoVar | |||||||
SEC16A_chr9_136435105_136488040 | 136448674 | GGGGAGCA others(29): Show |
G | intron_variant | MODIFIER | HG01261.hp2 HG02572.hp1 HG02886.hp2 others(4): Show |
a0004 | a0004c0008a0004c0028 | a0004c0008t0005a0004c0028t0005 | a0004c0008t0005g0032 a0004c0008t0005g0033 a0004c0008t0005g0036 others(4): Show |
7 | 304 | 0.0230 | -36 | c.631 others(53): Show |
SEC16A | ENSG00000148396.19 | transcript | ENST00000684901.1 | protein_coding | 23/31 | chr9 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39094389 | CACACACA others(29): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0302 | 1 | 324 | 0.0031 | -36 | c.222 others(53): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 2/19 | chr14 | TogoVar | |||||||
SEC31A_chr4_82813509_82896153 | 82865536 | GTATATAT others(29): Show |
G | intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 17 | 0.0588 | -36 | c.119 others(53): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 10/26 | chr4 | TogoVar | |||||||
SEL1L3_chr4_25742433_25867988 | 25790632 | AAGGAAGG others(29): Show |
A | intron_variant | MODIFIER | HG03486.hp2 HG04115.hp1 |
a0001a0015 | a0001c0001a0015c0038 | a0001c0001t0002a0015c0038t0012 | a0001c0001t0002g0233 a0015c0038t0012g0305 |
2 | 309 | 0.0065 | -36 | c.195 others(51): Show |
SEL1L3 | ENSG00000091490.11 | transcript | ENST00000399878.8 | protein_coding | 11/23 | chr4 | TogoVar | |||||||
SELENOP_chr5_42794880_42816892 | 42803727 | AGTGCCTT others(29): Show |
A | intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0078 | 1 | 394 | 0.0025 | -36 | c.534 others(51): Show |
SELENOP | ENSG00000250722.6 | transcript | ENST00000514985.6 | protein_coding | 4/4 | WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS | chr5 | TogoVar | ||||||
SEMA3D_chr7_84990553_85192056 | 85168814 | GAAAGATG others(29): Show |
G | intron_variant | MODIFIER | HG02559.hp1 HG02976.hp2 NA18522.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0041a0001c0001t0042a0001c0004t0002 | a0001c0001t0041g0245 a0001c0001t0042g0246 a0001c0004t0002g0244 |
3 | 253 | 0.0119 | -36 | c.-17 others(57): Show |
SEMA3D | ENSG00000153993.14 | transcript | ENST00000284136.11 | protein_coding | 1/18 | chr7 | TogoVar | |||||||
SEMA3D_chr7_84990553_85192056 | 85168820 | TGAAAGAA others(29): Show |
T | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 59 | 0.0169 | -36 | c.-17 others(57): Show |
SEMA3D | ENSG00000153993.14 | transcript | ENST00000284136.11 | protein_coding | 1/18 | chr7 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9384583 | GATAGATA others(29): Show |
G | intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0102 | 1 | 115 | 0.0087 | -36 | c.-77 others(53): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 2/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9408000 | CACCATCA others(29): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0068 | a0001c0001t0028g0006 a0001c0001t0068g0129 |
2 | 132 | 0.0152 | -36 | c.-77 others(55): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 2/22 | chr5 | TogoVar |