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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SEC23A_chr14_39026919_39108235 | 39094397 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01255.hp1 HG03209.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0025 others(2): Show |
5 | 366 | 0.0137 | -8 | c.222 others(25): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 2/19 | chr14 | TogoVar | |||||||
SEC23IP_chr10_119887730_119949657 | 119894892 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp2 HG02083.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0009 a0001c0001t0003g0146 a0001c0001t0003g0147 others(2): Show |
8 | 400 | 0.0200 | -8 | c.163 others(25): Show |
SEC23IP | ENSG00000107651.15 | transcript | ENST00000369075.8 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SEC24B_chr4_109428815_109545896 | 109439474 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02486.hp2 others(4): Show |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0001a0001c0001t0006a0005c0010t0001 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(4): Show |
7 | 222 | 0.0315 | -8 | c.133 others(25): Show |
SEC24B | ENSG00000138802.11 | transcript | ENST00000265175.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEC24B_chr4_109428815_109545896 | 109447642 | CTACTAGT others(1): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01109.hp1 HG01243.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0014 others(31): Show |
35 | 222 | 0.1577 | -8 | c.133 others(27): Show |
SEC24B | ENSG00000138802.11 | transcript | ENST00000265175.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEC24B_chr4_109428815_109545896 | 109482936 | CTATATAT others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01884.hp2 HG02004.hp1 others(22): Show |
a0001a0009 | a0001c0001a0009c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 others(22): Show |
25 | 222 | 0.1126 | -8 | c.116 others(27): Show |
SEC24B | ENSG00000138802.11 | transcript | ENST00000265175.5 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEC24D_chr4_118717823_118841126 | 118775345 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00558.hp2 others(56): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(54): Show |
59 | 300 | 0.1967 | -8 | c.104 others(27): Show |
SEC24D | ENSG00000150961.15 | transcript | ENST00000280551.11 | protein_coding | 8/22 | chr4 | TogoVar | |||||||
SEC24D_chr4_118717823_118841126 | 118810074 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG01109.hp1 HG02622.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(1): Show | a0001c0001t0001g0014 a0001c0001t0001g0212 a0001c0001t0001g0242 others(3): Show |
6 | 300 | 0.0200 | -8 | c.802 others(25): Show |
SEC24D | ENSG00000150961.15 | transcript | ENST00000280551.11 | protein_coding | 6/22 | chr4 | TogoVar | |||||||
SEC31A_chr4_82813509_82896153 | 82841442 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(107): Show |
a0001a0011 | a0001c0001a0001c0002a0011c0009 | a0001c0001t0001a0001c0002t0001a0011c0009t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(104): Show |
110 | 328 | 0.3354 | -8 | c.296 others(25): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 22/26 | chr4 | TogoVar | |||||||
SEC31A_chr4_82813509_82896153 | 82846709 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00558.hp1 others(94): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0001others(5): Show | a0001c0001t0001g0100 a0001c0001t0001g0143 a0001c0002t0001g0206 others(94): Show |
97 | 328 | 0.2957 | -8 | c.250 others(27): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 20/26 | chr4 | TogoVar | |||||||
SEC31A_chr4_82813509_82896153 | 82861905 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02647.hp2 others(3): Show |
a0001a0004 | a0001c0005a0004c0013 | a0001c0005t0001a0004c0013t0001 | a0001c0005t0001g0111 a0001c0005t0001g0318 a0001c0005t0001g0319 others(3): Show |
6 | 328 | 0.0183 | -8 | c.154 others(25): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 13/26 | chr4 | TogoVar | |||||||
SEC31A_chr4_82813509_82896153 | 82865536 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG03130.hp2 NA18612.hp1 NA18965.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0003t0001g0008 |
3 | 328 | 0.0092 | -8 | c.119 others(25): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 10/26 | chr4 | TogoVar | |||||||
SEC31A_chr4_82813509_82896153 | 82888391 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00558.hp1 others(96): Show |
a0001a0005a0006others(1): Show | a0001c0002a0001c0007a0001c0018others(4): Show | a0001c0002t0001a0001c0007t0001a0001c0018t0001others(4): Show | a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 others(96): Show |
99 | 328 | 0.3018 | -8 | c.-5+ others(23): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 1/26 | chr4 | TogoVar | |||||||
SEC63_chr6_107862756_107963208 | 107863971 | CGTGTGTG others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG01256.hp2 others(7): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0005 | a0001c0001t0001a0001c0002t0002a0001c0002t0005others(2): Show | a0001c0001t0001g0254 a0001c0001t0001g0258 a0001c0002t0002g0283 others(6): Show |
10 | 332 | 0.0301 | -8 | c.*77 others(19): Show |
SEC63 | ENSG00000025796.14 | transcript | ENST00000369002.9 | protein_coding | 3784 | chr6 | TogoVar | |||||||
SEC63_chr6_107862756_107963208 | 107893107 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00621.hp2 HG01074.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0011a0001c0001t0038others(5): Show | a0001c0001t0001g0069 a0001c0001t0001g0108 a0001c0001t0001g0153 others(26): Show |
29 | 332 | 0.0874 | -8 | c.167 others(25): Show |
SEC63 | ENSG00000025796.14 | transcript | ENST00000369002.9 | protein_coding | 16/20 | chr6 | TogoVar | |||||||
SECISBP2L_chr15_48983638_49051446 | 48993100 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | NA18980.hp1 NA18992.hp2 NA19010.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0258 a0001c0001t0001g0318 others(3): Show |
7 | 378 | 0.0185 | -8 | c.262 others(25): Show |
SECISBP2L | ENSG00000138593.9 | transcript | ENST00000559471.6 | protein_coding | 17/17 | chr15 | TogoVar | |||||||
SECISBP2_chr9_89313500_89364663 | 89336081 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00597.hp2 others(49): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0001c0001t0002a0007c0008t0002 | a0001c0001t0001g0076 a0001c0001t0002g0003 a0001c0001t0002g0005 others(31): Show |
52 | 380 | 0.1368 | -8 | c.108 others(27): Show |
SECISBP2 | ENSG00000187742.15 | transcript | ENST00000375807.8 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SEH1L_chr18_12943011_12992531 | 12958064 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG03704.hp1 NA18954.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002 | a0001c0003t0001g0360 a0001c0003t0002g0361 a0001c0003t0002g0362 others(4): Show |
7 | 388 | 0.0180 | -8 | c.309 others(25): Show |
SEH1L | ENSG00000085415.16 | transcript | ENST00000399892.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13900389 | TGTAACTC others(1): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02280.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 others(2): Show |
5 | 324 | 0.0154 | -8 | c.550 others(27): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 5/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13907700 | CTCTTTCT others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00735.hp1 HG01361.hp2 others(17): Show |
a0001a0003a0007 | a0001c0001a0003c0005a0007c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0080 a0001c0001t0001g0093 a0001c0001t0001g0155 others(17): Show |
20 | 324 | 0.0617 | -8 | c.549 others(25): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 5/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13939665 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(210): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(14): Show | a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 others(209): Show |
213 | 324 | 0.6574 | -8 | c.115 others(25): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L3_chr4_25742433_25867988 | 25745025 | GTTTGTTT others(1): Show |
G | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02145.hp2 others(16): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0010a0001c0014others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0010t0002others(10): Show | a0001c0001t0001g0136 a0001c0001t0001g0287 a0001c0001t0001g0288 others(16): Show |
19 | 312 | 0.0609 | -8 | c.*33 others(19): Show |
SEL1L3 | ENSG00000091490.11 | transcript | ENST00000399878.8 | protein_coding | 2407 | chr4 | TogoVar | |||||||
SEL1L3_chr4_25742433_25867988 | 25788569 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG00609.hp2 others(46): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0030 a0001c0001t0001g0041 a0001c0001t0001g0047 others(46): Show |
49 | 312 | 0.1571 | -8 | c.207 others(25): Show |
SEL1L3 | ENSG00000091490.11 | transcript | ENST00000399878.8 | protein_coding | 12/23 | chr4 | TogoVar | |||||||
SEL1L3_chr4_25742433_25867988 | 25790610 | AGAAGGAA others(1): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02572.hp1 HG02965.hp1 others(2): Show |
a0001a0002a0004 | a0001c0001a0002c0009a0004c0007 | a0001c0001t0002a0002c0009t0003a0004c0007t0001others(1): Show | a0001c0001t0002g0139 a0002c0009t0003g0278 a0004c0007t0001g0165 others(2): Show |
5 | 312 | 0.0160 | -8 | c.195 others(23): Show |
SEL1L3 | ENSG00000091490.11 | transcript | ENST00000399878.8 | protein_coding | 11/23 | chr4 | TogoVar | |||||||
SEL1L3_chr4_25742433_25867988 | 25790660 | AAGGAAGG others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp1 NA18954.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0028 | a0001c0001t0001a0001c0001t0002a0003c0028t0001 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0002g0147 others(1): Show |
4 | 312 | 0.0128 | -8 | c.195 others(23): Show |
SEL1L3 | ENSG00000091490.11 | transcript | ENST00000399878.8 | protein_coding | 11/23 | chr4 | TogoVar | |||||||
SEL1L3_chr4_25742433_25867988 | 25790664 | AAGGGAGG others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG01070.hp1 HG01071.hp2 others(3): Show |
a0001a0002a0014 | a0001c0001a0002c0005a0014c0026 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0075 a0001c0001t0002g0046 a0001c0001t0003g0086 others(3): Show |
6 | 312 | 0.0192 | -8 | c.195 others(23): Show |
SEL1L3 | ENSG00000091490.11 | transcript | ENST00000399878.8 | protein_coding | 11/23 | chr4 | TogoVar | |||||||
SELENOF_chr1_86857445_86919126 | 86865212 | CCAAACAA others(1): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02109.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0001 a0001c0001t0002g0029 a0001c0001t0002g0031 others(13): Show |
17 | 226 | 0.0752 | -8 | c.367 others(25): Show |
SELENOF | ENSG00000183291.18 | transcript | ENST00000331835.10 | protein_coding | 4/4 | chr1 | TogoVar | |||||||
SELENOF_chr1_86857445_86919126 | 86898760 | TTTTTTTT others(1): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG02630.hp1 HG03453.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0005g0003 others(3): Show |
7 | 226 | 0.0310 | -8 | c.252 others(25): Show |
SELENOF | ENSG00000183291.18 | transcript | ENST00000331835.10 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
SELENOI_chr2_26341143_26400885 | 26348996 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00741.hp1 others(38): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0009a0001c0001t0016others(2): Show | a0001c0001t0003g0004 a0001c0001t0003g0009 a0001c0001t0003g0010 others(34): Show |
41 | 334 | 0.1228 | -8 | c.57+ others(23): Show |
SELENOI | ENSG00000138018.19 | transcript | ENST00000260585.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SELENOI_chr2_26341143_26400885 | 26381198 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG01346.hp1 HG01358.hp2 others(16): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0001t0006a0001c0001t0021others(2): Show | a0001c0001t0005g0023 a0001c0001t0005g0263 a0001c0001t0005g0264 others(13): Show |
19 | 334 | 0.0569 | -8 | c.683 others(25): Show |
SELENOI | ENSG00000138018.19 | transcript | ENST00000260585.12 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SELENOI_chr2_26341143_26400885 | 26398037 | CTTTTTTT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02572.hp2 HG02647.hp1 others(4): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0005a0001c0001t0006a0001c0001t0008others(1): Show | a0001c0001t0005g0255 a0001c0001t0005g0268 a0001c0001t0005g0278 others(4): Show |
7 | 334 | 0.0210 | -8 | c.*89 others(19): Show |
SELENOI | ENSG00000138018.19 | transcript | ENST00000260585.12 | protein_coding | 2153 | chr2 | TogoVar | |||||||
SELENOK_chr3_53879417_53896859 | 53895918 | TACACACA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG02040.hp2 NA18522.hp1 NA18947.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0004g0003 |
4 | 422 | 0.0095 | -8 | c.-41 others(19): Show |
SELENOK | ENSG00000113811.12 | transcript | ENST00000495461.6 | protein_coding | 4060 | chr3 | TogoVar | |||||||
SELENON_chr1_25795193_25823221 | 25812564 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(72): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0218 others(39): Show |
75 | 392 | 0.1913 | -8 | c.128 others(23): Show |
SELENON | ENSG00000162430.18 | transcript | ENST00000361547.7 | protein_coding | 9/12 | WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS&INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SELENON_chr1_25795193_25823221 | 25819423 | TGTGTGTG others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01891.hp2 HG02622.hp2 others(7): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0013 | a0001c0003t0003g0011 a0001c0003t0003g0017 a0001c0003t0003g0224 others(4): Show |
10 | 392 | 0.0255 | -8 | c.*37 others(19): Show |
SELENON | ENSG00000162430.18 | transcript | ENST00000361547.7 | protein_coding | 1203 | WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS | chr1 | TogoVar | ||||||
SELENOV_chr19_39510139_39525675 | 39510557 | CTTTTTTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG01069.hp2 others(52): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0013 others(35): Show |
55 | 436 | 0.1262 | -8 | c.-46 others(19): Show |
SELENOV | ENSG00000186838.15 | transcript | ENST00000335426.9 | protein_coding | 4581 | chr19 | TogoVar | |||||||
SELPLG_chr12_108616895_108638894 | 108628318 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01106.hp2 HG01257.hp1 others(6): Show |
a0001a0007a0008 | a0001c0001a0007c0007a0008c0009 | a0001c0001t0001a0001c0001t0004a0007c0007t0003others(1): Show | a0001c0001t0001g0007 a0001c0001t0004g0300 a0007c0007t0003g0356 others(1): Show |
9 | 486 | 0.0185 | -8 | c.-5- others(23): Show |
SELPLG | ENSG00000110876.10 | transcript | ENST00000550948.2 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
SELPLG_chr12_108616895_108638894 | 108632389 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG01167.hp2 HG02109.hp1 HG02257.hp1 others(8): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0003c0003t0004a0004c0004t0003 | a0001c0001t0001g0064 a0003c0003t0004g0006 a0003c0003t0004g0115 others(3): Show |
11 | 486 | 0.0226 | -8 | c.-6+ others(23): Show |
SELPLG | ENSG00000110876.10 | transcript | ENST00000550948.2 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
SELP_chr1_169583849_169635124 | 169603307 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(162): Show |
a0001a0003a0006others(10): Show | a0001c0001a0001c0002a0003c0005others(14): Show | a0001c0001t0001a0001c0002t0001a0003c0005t0001others(14): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0012 others(143): Show |
165 | 326 | 0.5061 | -8 | c.152 others(24): Show |
SELP | ENSG00000174175.17 | transcript | ENST00000263686.11 | protein_coding | 9/16 | chr1 | TogoVar | |||||||
SELP_chr1_169583849_169635124 | 169605416 | GTTCATTC others(1): Show |
G | intron_variant | MODIFIER | HG00408.hp1 NA18973.hp2 NA19074.hp1 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0207 a0003c0005t0001g0284 a0003c0005t0001g0285 |
3 | 326 | 0.0092 | -8 | c.151 others(27): Show |
SELP | ENSG00000174175.17 | transcript | ENST00000263686.11 | protein_coding | 9/16 | chr1 | TogoVar | |||||||
SELP_chr1_169583849_169635124 | 169610779 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02572.hp1 HG02809.hp2 others(2): Show |
a0001a0003a0004others(2): Show | a0001c0002a0003c0005a0004c0006others(2): Show | a0001c0002t0001a0003c0005t0001a0004c0006t0001others(2): Show | a0001c0002t0001g0081 a0003c0005t0001g0224 a0004c0006t0001g0216 others(2): Show |
5 | 326 | 0.0153 | -8 | c.114 others(25): Show |
SELP | ENSG00000174175.17 | transcript | ENST00000263686.11 | protein_coding | 7/16 | chr1 | TogoVar | |||||||
SELP_chr1_169583849_169635124 | 169621093 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG03041.hp1 HG03516.hp2 |
a0005 | a0005c0004a0005c0036 | a0005c0004t0001a0005c0036t0002 | a0005c0004t0001g0202 a0005c0004t0001g0203 a0005c0036t0002g0204 |
3 | 326 | 0.0092 | -8 | c.4-1 others(21): Show |
SELP | ENSG00000174175.17 | transcript | ENST00000263686.11 | protein_coding | 1/16 | chr1 | TogoVar | |||||||
SELP_chr1_169583849_169635124 | 169621428 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG01123.hp1 HG01167.hp1 others(61): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0046others(12): Show | a0001c0001t0001a0001c0002t0001a0001c0046t0001others(13): Show | a0001c0001t0001g0020 a0001c0001t0001g0170 a0001c0001t0001g0177 others(50): Show |
64 | 326 | 0.1963 | -8 | c.4-2 others(21): Show |
SELP | ENSG00000174175.17 | transcript | ENST00000263686.11 | protein_coding | 1/16 | chr1 | TogoVar | |||||||
SEM1_chr7_96683762_96714846 | 96703972 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00639.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0020 others(8): Show |
23 | 354 | 0.0650 | -8 | c.76+ others(23): Show |
SEM1 | ENSG00000127922.10 | transcript | ENST00000248566.4 | protein_coding | 1/2 | chr7 | TogoVar | |||||||
SEM1_chr7_96683762_96714846 | 96706570 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02559.hp2 HG02622.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0011 a0001c0002t0001g0027 |
6 | 354 | 0.0170 | -8 | c.76+ others(23): Show |
SEM1 | ENSG00000127922.10 | transcript | ENST00000248566.4 | protein_coding | 1/2 | chr7 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 83965627 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG03209.hp1 NA18980.hp2 |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0011a0001c0003t0012a0001c0004t0012 | a0001c0001t0011g0195 a0001c0003t0012g0154 a0001c0004t0012g0070 |
3 | 276 | 0.0109 | -8 | c.171 others(27): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 15/16 | chr7 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 84091163 | GGAAGGAA others(1): Show |
G | intron_variant | MODIFIER | HG02818.hp2 HG02897.hp1 NA18952.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0182 a0001c0001t0001g0239 a0001c0007t0001g0078 |
3 | 276 | 0.0109 | -8 | c.453 others(27): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 4/16 | chr7 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 84131771 | ATTATTTA others(1): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG00639.hp1 others(102): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(34): Show | a0001c0001t0001g0115 a0001c0001t0001g0143 a0001c0001t0001g0144 others(102): Show |
105 | 276 | 0.3804 | -8 | c.271 others(25): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 2/16 | chr7 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 84136960 | AGAAGGAA others(1): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG00673.hp1 others(45): Show |
a0001a0004a0005 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0001g0115 a0001c0001t0001g0143 a0001c0001t0001g0144 others(45): Show |
48 | 276 | 0.1739 | -8 | c.113 others(25): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 1/16 | chr7 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 84143947 | TCTAACAC others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG03942.hp1 NA21309.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0011a0001c0003t0011 | a0001c0001t0001g0032 a0001c0001t0011g0153 a0001c0003t0011g0075 |
3 | 276 | 0.0109 | -8 | c.113 others(25): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 1/16 | chr7 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 84143949 | TAACACAC others(1): Show |
T | intron_variant | MODIFIER | HG01978.hp1 HG02155.hp1 NA19083.hp1 |
a0002 | a0002c0006a0002c0009 | a0002c0006t0010a0002c0009t0021 | a0002c0006t0010g0004 a0002c0006t0010g0005 a0002c0009t0021g0266 |
3 | 276 | 0.0109 | -8 | c.113 others(25): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 1/16 | chr7 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 84143950 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG02886.hp1 HG02965.hp2 NA18957.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0006 | a0001c0001t0003g0029 a0001c0003t0006g0014 a0001c0003t0006g0161 |
3 | 276 | 0.0109 | -8 | c.113 others(25): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 1/16 | chr7 | TogoVar |