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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SEMA5B_chr3_122904082_123032763 | 123030622 | ATCTCTCT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01070.hp1 others(26): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0009others(13): Show | a0001c0001t0001g0003 a0001c0001t0001g0139 a0001c0001t0001g0158 others(24): Show |
29 | 290 | 0.1000 | -8 | c.-32 others(19): Show |
SEMA5B | ENSG00000082684.16 | transcript | ENST00000357599.8 | protein_coding | 2860 | chr3 | TogoVar | |||||||
SEMA6A_chr5_116438555_116579823 | 116488785 | TTACTCAA others(1): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG01496.hp2 HG01928.hp1 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0009a0002c0002t0011a0002c0002t0075others(2): Show | a0002c0002t0009g0010 a0002c0002t0009g0023 a0002c0002t0009g0024 others(9): Show |
12 | 304 | 0.0395 | -8 | c.655 others(22): Show |
SEMA6A | ENSG00000092421.17 | transcript | ENST00000343348.11 | protein_coding | 8/18 | chr5 | TogoVar | |||||||
SEMA6D_chr15_47712505_47779228 | 47717832 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG01168.hp2 HG01169.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0017others(2): Show | a0001c0001t0019a0001c0001t0051a0001c0004t0031others(4): Show | a0001c0001t0019g0302 a0001c0001t0051g0175 a0001c0004t0031g0038 others(8): Show |
12 | 388 | 0.0309 | -8 | c.-55 others(23): Show |
SEMA6D | ENSG00000137872.17 | transcript | ENST00000536845.7 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SEMG1_chr20_45202033_45214768 | 45203535 | GTGTGTAT others(1): Show |
G | upstream_gene_variant | MODIFIER | HG01884.hp2 HG03225.hp1 HG06807.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0009 | a0001c0001t0001a0002c0002t0001a0002c0009t0001 | a0001c0001t0001g0001 a0002c0002t0001g0002 a0002c0009t0001g0002 |
4 | 408 | 0.0098 | -8 | c.-35 others(19): Show |
SEMG1 | ENSG00000124233.12 | transcript | ENST00000372781.4 | protein_coding | 3497 | chr20 | TogoVar | |||||||
SEMG1_chr20_45202033_45214768 | 45203537 | GTGTATAT others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00673.hp2 HG02886.hp1 HG03209.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0004g0001 |
4 | 408 | 0.0098 | -8 | c.-35 others(19): Show |
SEMG1 | ENSG00000124233.12 | transcript | ENST00000372781.4 | protein_coding | 3495 | chr20 | TogoVar | |||||||
SEMG1_chr20_45202033_45214768 | 45203539 | GTATATAT others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(127): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0002c0003others(7): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0002c0002t0001g0002 others(9): Show |
130 | 408 | 0.3186 | -8 | c.-35 others(19): Show |
SEMG1 | ENSG00000124233.12 | transcript | ENST00000372781.4 | protein_coding | 3493 | chr20 | TogoVar | |||||||
SENP1_chr12_48037897_48111079 | 48104253 | AGACGGGG others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00544.hp2 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 others(50): Show |
53 | 394 | 0.1345 | -8 | c.-45 others(25): Show |
SENP1 | ENSG00000079387.15 | transcript | ENST00000549518.6 | protein_coding | 1/17 | chr12 | TogoVar | |||||||
SENP2_chr3_185581295_185638551 | 185584452 | CATATATA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00544.hp2 HG01975.hp1 HG01981.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0009others(3): Show | a0001c0001t0004g0037 a0001c0001t0005g0040 a0001c0001t0009g0051 others(4): Show |
7 | 360 | 0.0194 | -8 | c.-19 others(19): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 1842 | chr3 | TogoVar | |||||||
SENP3_chr17_7556919_7576969 | 7571902 | TATATATA others(1): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00423.hp2 HG01261.hp1 HG01515.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0030a0001c0001t0041a0001c0001t0084others(2): Show | a0001c0001t0030g0005 a0001c0001t0030g0071 a0001c0001t0041g0002 others(4): Show |
10 | 446 | 0.0224 | -8 | c.*42 others(17): Show |
SENP3 | ENSG00000161956.14 | transcript | ENST00000321337.12 | protein_coding | 11/11 | 421 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SENP6_chr6_75596880_75723281 | 75638586 | GTGTGTAT others(1): Show |
G | intron_variant | MODIFIER | NA18612.hp2 NA18940.hp2 NA18964.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0021 | a0001c0002t0003g0338 a0001c0002t0003g0343 a0001c0002t0003g0344 others(3): Show |
6 | 362 | 0.0166 | -8 | c.459 others(25): Show |
SENP6 | ENSG00000112701.18 | transcript | ENST00000447266.7 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SENP6_chr6_75596880_75723281 | 75638588 | GTGTATAT others(1): Show |
G | intron_variant | MODIFIER | HG01192.hp1 HG01891.hp2 NA18965.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003 | a0001c0001t0002g0079 a0001c0002t0003g0011 a0001c0002t0003g0351 |
3 | 362 | 0.0083 | -8 | c.459 others(25): Show |
SENP6 | ENSG00000112701.18 | transcript | ENST00000447266.7 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SENP7_chr3_101319205_101518212 | 101323905 | TACACACA others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00673.hp2 others(77): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0003t0002others(6): Show | a0001c0001t0001g0192 a0001c0001t0001g0201 a0001c0001t0001g0262 others(77): Show |
80 | 370 | 0.2162 | -8 | c.*20 others(19): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 299 | chr3 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101463390 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02486.hp2 HG02630.hp2 others(3): Show |
a0001a0003 | a0001c0003a0003c0004 | a0001c0003t0002a0001c0003t0007a0003c0004t0002 | a0001c0003t0002g0009 a0001c0003t0002g0010 a0001c0003t0002g0011 others(3): Show |
6 | 370 | 0.0162 | -8 | c.187 others(25): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 3/23 | chr3 | TogoVar | |||||||
SEPHS1_chr10_13312428_13353293 | 13327240 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01081.hp2 HG01255.hp2 others(27): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0002others(1): Show | a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0001t0001g0214 others(16): Show |
30 | 378 | 0.0794 | -8 | c.751 others(25): Show |
SEPHS1 | ENSG00000086475.15 | transcript | ENST00000327347.10 | protein_coding | 7/8 | chr10 | TogoVar | |||||||
SEPHS1_chr10_13312428_13353293 | 13330831 | TTTTTTAA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(159): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0008others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(110): Show |
162 | 378 | 0.4286 | -8 | c.561 others(25): Show |
SEPHS1 | ENSG00000086475.15 | transcript | ENST00000327347.10 | protein_coding | 5/8 | chr10 | TogoVar | |||||||
SEPSECS_chr4_25115014_25165449 | 25156707 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01109.hp1 HG01175.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0147 others(3): Show |
8 | 456 | 0.0175 | -8 | c.388 others(23): Show |
SEPSECS | ENSG00000109618.13 | transcript | ENST00000382103.7 | protein_coding | 3/10 | chr4 | TogoVar | |||||||
SEPTIN10_chr2_109537799_109618966 | 109582075 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(105): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(101): Show |
108 | 404 | 0.2673 | -8 | c.413 others(25): Show |
SEPTIN10 | ENSG00000186522.15 | transcript | ENST00000397712.7 | protein_coding | 4/10 | chr2 | TogoVar | |||||||
SEPTIN11_chr4_76944752_77043615 | 77023269 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00639.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0012 others(29): Show |
38 | 370 | 0.1027 | -8 | c.953 others(25): Show |
SEPTIN11 | ENSG00000138758.12 | transcript | ENST00000264893.11 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEPTIN11_chr4_76944752_77043615 | 77041944 | CTATTTAT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0008a0001c0001t0037a0001c0001t0038others(1): Show | a0001c0001t0008g0083 a0001c0001t0008g0084 a0001c0001t0008g0085 others(5): Show |
8 | 370 | 0.0216 | -8 | c.*74 others(19): Show |
SEPTIN11 | ENSG00000138758.12 | transcript | ENST00000264893.11 | protein_coding | 3330 | chr4 | TogoVar | |||||||
SEPTIN12_chr16_4772606_4793345 | 4784769 | CTAAATAA others(1): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01081.hp2 HG01346.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0068 a0001c0001t0001g0070 others(2): Show |
6 | 422 | 0.0142 | -8 | c.375 others(23): Show |
SEPTIN12 | ENSG00000140623.14 | transcript | ENST00000268231.13 | protein_coding | 4/9 | chr16 | TogoVar | |||||||
SEPTIN14_chr7_55788540_55867752 | 55832202 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(103): Show |
a0001a0004a0006others(1): Show | a0001c0001a0004c0004a0006c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0077 a0001c0001t0002g0021 a0001c0001t0002g0030 others(103): Show |
106 | 390 | 0.2718 | -8 | c.720 others(25): Show |
SEPTIN14 | ENSG00000154997.9 | transcript | ENST00000388975.4 | protein_coding | 6/9 | chr7 | TogoVar | |||||||
SEPTIN1_chr16_30373135_30387561 | 30379640 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01123.hp2 HG01496.hp1 HG01884.hp2 others(24): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0006a0003c0004t0001 | a0001c0001t0001g0006 a0001c0001t0001g0048 a0001c0001t0006g0047 others(1): Show |
27 | 310 | 0.0871 | -8 | c.676 others(23): Show |
SEPTIN1 | ENSG00000180096.13 | transcript | ENST00000321367.8 | protein_coding | 7/10 | chr16 | TogoVar | |||||||
SEPTIN5_chr22_19709503_19728319 | 19712694 | CTTTTTTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02622.hp2 HG03195.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0063 others(2): Show |
9 | 384 | 0.0234 | -8 | c.-18 others(19): Show |
SEPTIN5 | ENSG00000184702.20 | transcript | ENST00000455784.7 | protein_coding | 1808 | chr22 | TogoVar | |||||||
SEPTIN6_chrX_119611945_119698168 | 119617099 | CGTGTGTG others(1): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00423.hp2 others(87): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0001t0013others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0020 others(87): Show |
90 | 252 | 0.3571 | -8 | c.*29 others(19): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 11/11 | 8269 | chrX | TogoVar | ||||||
SEPTIN6_chrX_119611945_119698168 | 119637654 | TATCCATC others(1): Show |
T | intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0090 | 1 | 252 | 0.0040 | -8 | c.788 others(23): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 6/10 | chrX | TogoVar | |||||||
SEPTIN6_chrX_119611945_119698168 | 119680195 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG01243.hp1 HG02015.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(7): Show | a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0002g0199 others(8): Show |
11 | 252 | 0.0437 | -8 | c.31- others(23): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 1/10 | chrX | TogoVar | |||||||
SEPTIN6_chrX_119611945_119698168 | 119690340 | CATACACA others(1): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0010 | 1 | 252 | 0.0040 | -8 | c.30+ others(23): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 1/10 | chrX | TogoVar | |||||||
SEPTIN6_chrX_119611945_119698168 | 119690342 | TACACATA others(1): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG02135.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0227 a0001c0001t0003g0228 a0001c0001t0004g0226 others(1): Show |
4 | 252 | 0.0159 | -8 | c.30+ others(23): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 1/10 | chrX | TogoVar | |||||||
SEPTIN6_chrX_119611945_119698168 | 119690348 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0021 | 1 | 252 | 0.0040 | -8 | c.30+ others(23): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 1/10 | chrX | TogoVar | |||||||
SEPTIN8_chr5_132745819_132782239 | 132767943 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG03130.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 others(1): Show |
4 | 326 | 0.0123 | -8 | c.31- others(23): Show |
SEPTIN8 | ENSG00000164402.14 | transcript | ENST00000378719.7 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
SEPTIN8_chr5_132745819_132782239 | 132769982 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02970.hp1 HG03130.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0080 others(4): Show |
7 | 326 | 0.0215 | -8 | c.31- others(23): Show |
SEPTIN8 | ENSG00000164402.14 | transcript | ENST00000378719.7 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
SEPTIN8_chr5_132745819_132782239 | 132770016 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01099.hp1 HG01167.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0087 others(12): Show |
16 | 326 | 0.0491 | -8 | c.31- others(23): Show |
SEPTIN8 | ENSG00000164402.14 | transcript | ENST00000378719.7 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
SEPTIN9_chr17_77276499_77505593 | 77301394 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG00738.hp2 HG02738.hp2 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0010a0002c0002t0001others(1): Show | a0001c0001t0001g0099 a0001c0001t0010g0135 a0002c0002t0001g0094 others(1): Show |
4 | 150 | 0.0267 | -8 | c.20- others(23): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77343003 | GTCTATCT others(1): Show |
G | intron_variant | MODIFIER | HG01168.hp2 HG01261.hp1 HG01261.hp2 others(10): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(6): Show | a0001c0001t0001g0110 a0001c0001t0002g0059 a0001c0001t0002g0106 others(10): Show |
13 | 150 | 0.0867 | -8 | c.76+ others(25): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77351228 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01106.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0007a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(8): Show | a0001c0001t0001g0122 a0001c0001t0002g0131 a0001c0001t0007g0146 others(9): Show |
12 | 150 | 0.0800 | -8 | c.76+ others(25): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77384842 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(18): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0087 others(18): Show |
21 | 150 | 0.1400 | -8 | c.77- others(25): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77413087 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0052 | a0001c0001t0017g0078 a0001c0001t0052g0013 |
2 | 150 | 0.0133 | -8 | c.721 others(27): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77414572 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp2 HG01106.hp1 others(37): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(24): Show | a0001c0001t0001g0044 a0001c0001t0001g0105 a0001c0001t0001g0110 others(37): Show |
40 | 150 | 0.2667 | -8 | c.721 others(27): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77466054 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG01106.hp1 HG01106.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0069 a0001c0001t0001g0092 a0001c0001t0001g0099 others(20): Show |
23 | 150 | 0.1533 | -8 | c.722 others(27): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77486521 | TGCGCGCA others(1): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG02451.hp1 HG02559.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0012a0001c0001t0028others(2): Show | a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0012g0113 others(3): Show |
6 | 150 | 0.0400 | -8 | c.914 others(23): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77343003 | GTCTATCT others(1): Show |
G | intron_variant | MODIFIER | HG01168.hp2 HG01261.hp1 HG01261.hp2 others(10): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(6): Show | a0001c0001t0001g0132 a0001c0001t0002g0123 a0001c0001t0002g0143 others(10): Show |
13 | 158 | 0.0823 | -8 | c.22+ others(25): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77351228 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01106.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0108 a0001c0001t0002g0077 a0001c0001t0006g0116 others(8): Show |
11 | 158 | 0.0696 | -8 | c.22+ others(25): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77384842 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(19): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0029 a0001c0001t0001g0094 a0001c0001t0001g0095 others(19): Show |
22 | 158 | 0.1392 | -8 | c.23- others(25): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77413087 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0038 | a0001c0001t0007g0005 a0001c0001t0038g0106 |
2 | 158 | 0.0127 | -8 | c.667 others(27): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77414572 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp2 HG01106.hp2 others(36): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0058 a0001c0001t0001g0132 a0001c0001t0001g0147 others(36): Show |
39 | 158 | 0.2468 | -8 | c.667 others(27): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77466054 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG01106.hp1 HG01106.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0027 others(20): Show |
23 | 158 | 0.1456 | -8 | c.668 others(27): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77486521 | TGCGCGCA others(1): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG02559.hp2 HG02897.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0010a0001c0001t0023a0001c0001t0046others(3): Show | a0001c0001t0010g0093 a0001c0001t0023g0066 a0001c0001t0046g0054 others(3): Show |
6 | 158 | 0.0380 | -8 | c.860 others(23): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SERAC1_chr6_158104519_158173262 | 158108361 | ATTTTTTT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00558.hp2 others(66): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0015 | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0010 others(59): Show |
69 | 366 | 0.1885 | -8 | c.*29 others(19): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 1157 | chr6 | TogoVar | |||||||
SERF1A_chr5_70895669_70913115 | 70912012 | TACACACA others(1): Show |
T | downstream_gene_variant | MODIFIER | NA18992.hp1 NA18992.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 |
2 | 4 | 0.5000 | -8 | c.*42 others(19): Show |
SERF1A | ENSG00000172058.16 | transcript | ENST00000317633.14 | protein_coding | 3898 | chr5 | TogoVar | |||||||
SERGEF_chr11_17783048_18018047 | 17888628 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG02015.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0002a0002c0003t0001 | a0001c0001t0001g0070 a0001c0001t0001g0079 a0001c0001t0001g0107 others(11): Show |
14 | 226 | 0.0620 | -8 | c.101 others(29): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 9/10 | chr11 | TogoVar |