regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CSMD1_chr8_2930361_4999914 | 3439281 | G | GTGTGTAT others(9): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0084 | a0002c0084t0018 | a0002c0084t0018g0087 | 1 | 126 | 0.0079 | 16 | c.156 others(37): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3467667 | A | AGACCCTT others(9): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0020 | a0020c0024 | a0020c0024t0077 | a0020c0024t0077g0104 | 1 | 126 | 0.0079 | 16 | c.156 others(35): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3511762 | A | AAATAACA others(9): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0029 | a0029c0028 | a0029c0028t0024 | a0029c0028t0024g0040 | 1 | 126 | 0.0079 | 16 | c.134 others(37): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3520020 | C | CTATATAT others(9): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0074 | a0002c0074t0041 | a0002c0074t0041g0031 | 1 | 126 | 0.0079 | 16 | c.134 others(37): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3520039 | T | TATATATA others(9): Show |
intron_variant | MODIFIER | HG02922.hp2 NA18522.hp2 NA18979.hp1 others(1): Show |
a0002a0012a0031 | a0002c0036a0002c0072a0012c0104others(1): Show | a0002c0036t0029a0002c0072t0003a0012c0104t0071others(1): Show | a0002c0036t0029g0009a0002c0072t0003g0066a0012c0104t0071g0058others(1): Show | 4 | 126 | 0.0318 | 16 | c.134 others(37): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3548659 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0004 | a0001c0004t0063 | a0001c0004t0063g0095 | 1 | 126 | 0.0079 | 16 | c.134 others(37): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3556391 | T | TTATATAT others(9): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01074.hp1 HG01243.hp1 others(1): Show |
a0001a0002a0005others(1): Show | a0001c0004a0002c0041a0005c0064others(1): Show | a0001c0004t0063a0002c0041t0027a0005c0064t0051others(1): Show | a0001c0004t0063g0095a0002c0041t0027g0018a0005c0064t0051g0078others(1): Show | 4 | 126 | 0.0318 | 16 | c.134 others(37): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3556392 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0046 | a0001c0046t0073 | a0001c0046t0073g0091 | 1 | 126 | 0.0079 | 16 | c.134 others(37): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3564517 | T | TTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01074.hp2 others(11): Show |
a0001a0002a0004others(4): Show | a0001c0002a0001c0005a0001c0068others(9): Show | a0001c0002t0028a0001c0002t0061a0001c0005t0002others(11): Show | a0001c0002t0028g0005a0001c0002t0061g0069a0001c0005t0002g0111others(11): Show | 14 | 126 | 0.1111 | 16 | c.134 others(37): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3565199 | C | CAGATAGA others(9): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03098.hp2 NA18906.hp1 others(1): Show |
a0002a0010a0011others(1): Show | a0002c0032a0010c0112a0011c0110others(1): Show | a0002c0032t0050a0010c0112t0081a0011c0110t0074others(1): Show | a0002c0032t0050g0061a0010c0112t0081g0090a0011c0110t0074g0082others(1): Show | 4 | 126 | 0.0318 | 16 | c.134 others(35): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3599125 | C | CTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03195.hp2 |
a0001a0013 | a0001c0026a0013c0027 | a0001c0026t0006a0013c0027t0003 | a0001c0026t0006g0093a0013c0027t0003g0099 | 2 | 126 | 0.0159 | 16 | c.109 others(37): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 8/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3643700 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02615.hp2 |
a0001 | a0001c0004a0001c0114 | a0001c0004t0063a0001c0114t0003 | a0001c0004t0063g0095a0001c0114t0003g0119 | 2 | 126 | 0.0159 | 16 | c.101 others(37): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 7/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3644966 | G | GAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02572.hp2 HG02723.hp1 |
a0007a0024 | a0007c0029a0007c0088a0024c0038 | a0007c0029t0011a0007c0088t0076a0024c0038t0075 | a0007c0029t0011g0054a0007c0088t0076g0057a0024c0038t0075g0067 | 3 | 126 | 0.0238 | 16 | c.101 others(37): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 7/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3658464 | G | GTATATAT others(9): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0005 | a0005c0064 | a0005c0064t0051 | a0005c0064t0051g0078 | 1 | 126 | 0.0079 | 16 | c.101 others(37): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 7/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3695087 | C | CGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02257.hp1 HG02257.hp2 others(6): Show |
a0001a0002a0004others(3): Show | a0001c0005a0001c0019a0001c0093others(6): Show | a0001c0005t0007a0001c0019t0078a0001c0093t0009others(6): Show | a0001c0005t0007g0070a0001c0019t0078g0105a0001c0093t0009g0007others(6): Show | 9 | 126 | 0.0714 | 16 | c.100 others(37): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 7/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3709680 | G | GTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01261.hp1 HG01934.hp1 others(6): Show |
a0001a0002a0032 | a0001c0003a0001c0005a0001c0006others(5): Show | a0001c0003t0013a0001c0003t0019a0001c0005t0002others(6): Show | a0001c0003t0013g0026a0001c0003t0019g0107a0001c0005t0002g0111others(6): Show | 9 | 126 | 0.0714 | 16 | c.932 others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3714025 | C | CAGATAGA others(9): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0004 | a0001c0004t0063 | a0001c0004t0063g0095 | 1 | 126 | 0.0079 | 16 | c.932 others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3714561 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02258.hp1 HG03098.hp2 others(3): Show |
a0001a0002a0008others(1): Show | a0001c0033a0001c0109a0001c0114others(3): Show | a0001c0033t0003a0001c0109t0038a0001c0114t0003others(3): Show | a0001c0033t0003g0059a0001c0109t0038g0013a0001c0114t0003g0119others(3): Show | 6 | 126 | 0.0476 | 16 | c.932 others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3720620 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0006 | a0006c0116 | a0006c0116t0004 | a0006c0116t0004g0039 | 1 | 126 | 0.0079 | 16 | c.932 others(35): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3720620 | T | TTCACACA others(9): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02559.hp1 HG03130.hp1 others(1): Show |
a0001a0002a0004 | a0001c0004a0001c0026a0002c0032others(1): Show | a0001c0004t0020a0001c0026t0006a0002c0032t0050others(1): Show | a0001c0004t0020g0086a0001c0026t0006g0093a0002c0032t0050g0061others(1): Show | 4 | 126 | 0.0318 | 16 | c.932 others(35): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3720620 | T | TTCTCACA others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02129.hp2 HG03098.hp1 others(1): Show |
a0001a0028 | a0001c0002a0001c0007a0001c0025others(1): Show | a0001c0002t0028a0001c0007t0032a0001c0025t0003others(1): Show | a0001c0002t0028g0005a0001c0007t0032g0033a0001c0025t0003g0077others(1): Show | 4 | 126 | 0.0318 | 16 | c.932 others(35): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3772167 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0031 | a0031c0069 | a0031c0069t0043 | a0031c0069t0043g0100 | 1 | 126 | 0.0079 | 16 | c.819 others(35): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3776807 | G | GATATATA others(9): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01243.hp1 HG02965.hp2 others(1): Show |
a0001a0002a0005others(1): Show | a0001c0005a0002c0036a0005c0064others(1): Show | a0001c0005t0007a0002c0036t0029a0005c0064t0051others(1): Show | a0001c0005t0007g0070a0002c0036t0029g0009a0005c0064t0051g0078others(1): Show | 4 | 126 | 0.0318 | 16 | c.819 others(35): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3853890 | T | TAAAGTAT others(9): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0115 | a0001c0115t0042 | a0001c0115t0042g0055 | 1 | 126 | 0.0079 | 16 | c.819 others(35): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3889452 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03834.hp2 |
a0001 | a0001c0040a0001c0043 | a0001c0040t0019a0001c0043t0031 | a0001c0040t0019g0123a0001c0043t0031g0044 | 2 | 126 | 0.0159 | 16 | c.818 others(37): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3893339 | T | TTATATAT others(9): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0043 | a0001c0043t0031 | a0001c0043t0031g0044 | 1 | 126 | 0.0079 | 16 | c.818 others(37): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4042815 | T | TAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01243.hp1 NA18522.hp2 NA19074.hp2 |
a0001a0002a0005 | a0001c0090a0002c0072a0005c0064 | a0001c0090t0001a0002c0072t0003a0005c0064t0051 | a0001c0090t0001g0027a0002c0072t0003g0066a0005c0064t0051g0078 | 3 | 126 | 0.0238 | 16 | c.416 others(35): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4212751 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0007 | a0001c0007t0032 | a0001c0007t0032g0033 | 1 | 126 | 0.0079 | 16 | c.416 others(37): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4258458 | A | AGAGGGAG others(9): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0114 | a0001c0114t0003 | a0001c0114t0003g0119 | 1 | 126 | 0.0079 | 16 | c.415 others(37): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4390497 | T | TTTTATTT others(9): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02258.hp2 HG02451.hp1 others(7): Show |
a0001a0002a0015others(3): Show | a0001c0002a0001c0005a0001c0090others(7): Show | a0001c0002t0061a0001c0005t0002a0001c0090t0001others(7): Show | a0001c0002t0061g0069a0001c0005t0002g0111a0001c0090t0001g0027others(7): Show | 10 | 126 | 0.0794 | 16 | c.415 others(35): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4441095 | G | GTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01074.hp2 HG01255.hp1 others(7): Show |
a0001a0002a0004 | a0001c0005a0001c0020a0001c0071others(7): Show | a0001c0005t0002a0001c0020t0016a0001c0071t0069others(7): Show | a0001c0005t0002g0111a0001c0020t0016g0065a0001c0071t0069g0115others(7): Show | 10 | 126 | 0.0794 | 16 | c.303 others(35): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4441102 | T | TTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0103 | a0001c0103t0033 | a0001c0103t0033g0028 | 1 | 126 | 0.0079 | 16 | c.303 others(35): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4444346 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0020 | a0020c0024 | a0020c0024t0077 | a0020c0024t0077g0104 | 1 | 126 | 0.0079 | 16 | c.303 others(35): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4455929 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0073 | a0001c0073t0007 | a0001c0073t0007g0108 | 1 | 126 | 0.0079 | 16 | c.303 others(35): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4510390 | T | TAAAAAAA others(9): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0008 | a0008c0067 | a0008c0067t0059 | a0008c0067t0059g0079 | 1 | 126 | 0.0079 | 16 | c.303 others(35): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4510602 | G | GCCTTCCT others(9): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0071 | a0001c0071t0069 | a0001c0071t0069g0115 | 1 | 126 | 0.0079 | 16 | c.303 others(35): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4545942 | A | AGAAAGAA others(9): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02486.hp2 |
a0002a0003 | a0002c0070a0003c0034 | a0002c0070t0046a0003c0034t0030 | a0002c0070t0046g0092a0003c0034t0030g0038 | 2 | 126 | 0.0159 | 16 | c.302 others(35): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4578332 | A | ATTTTTTT others(9): Show |
intron_variant | MODIFIER | HG03579.hp1 NA18984.hp2 |
a0001a0006 | a0001c0003a0006c0116 | a0001c0003t0013a0006c0116t0004 | a0001c0003t0013g0026a0006c0116t0004g0039 | 2 | 126 | 0.0159 | 16 | c.302 others(35): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4588779 | G | GACACACA others(9): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02486.hp1 HG02615.hp1 |
a0002a0026a0037 | a0002c0091a0026c0082a0037c0101 | a0002c0091t0002a0026c0082t0052a0037c0101t0008 | a0002c0091t0002g0114a0026c0082t0052g0097a0037c0101t0008g0023 | 3 | 126 | 0.0238 | 16 | c.302 others(35): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4604381 | T | TTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0037 | a0037c0101 | a0037c0101t0008 | a0037c0101t0008g0023 | 1 | 126 | 0.0079 | 16 | c.302 others(35): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4604410 | T | TGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0074 | a0002c0074t0041 | a0002c0074t0041g0031 | 1 | 126 | 0.0079 | 16 | c.302 others(35): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4680950 | A | ATGTGTGT others(9): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03195.hp2 NA18984.hp2 |
a0001a0003a0013 | a0001c0003a0003c0034a0013c0027 | a0001c0003t0013a0003c0034t0030a0013c0027t0003 | a0001c0003t0013g0026a0003c0034t0030g0038a0013c0027t0003g0099 | 3 | 126 | 0.0238 | 16 | c.86- others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4717310 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0078 | a0002c0078t0044 | a0002c0078t0044g0064 | 1 | 126 | 0.0079 | 16 | c.86- others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4738903 | T | TTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00735.hp1 others(37): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0003a0001c0005others(36): Show | a0001c0001t0039a0001c0003t0008a0001c0003t0013others(37): Show | a0001c0001t0039g0017a0001c0003t0008g0053a0001c0003t0013g0026others(37): Show | 40 | 126 | 0.3175 | 16 | c.86- others(35): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4738905 | G | GTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02615.hp1 HG02615.hp2 others(4): Show |
a0001a0002a0020others(2): Show | a0001c0004a0001c0046a0001c0085others(4): Show | a0001c0004t0063a0001c0046t0073a0001c0085t0020others(4): Show | a0001c0004t0063g0095a0001c0046t0073g0091a0001c0085t0020g0060others(4): Show | 7 | 126 | 0.0556 | 16 | c.86- others(35): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4761882 | T | TCTATCTA others(9): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0047 | a0001c0047t0014 | a0001c0047t0014g0024 | 1 | 126 | 0.0079 | 16 | c.86- others(35): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4764892 | A | ACAAAACA others(9): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02647.hp2 HG02886.hp1 |
a0001a0002 | a0001c0004a0001c0039a0002c0084 | a0001c0004t0063a0001c0039t0066a0002c0084t0018 | a0001c0004t0063g0095a0001c0039t0066g0080a0002c0084t0018g0087 | 3 | 126 | 0.0238 | 16 | c.86- others(35): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4795252 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02280.hp1 HG02451.hp1 |
a0002a0006 | a0002c0051a0002c0053a0006c0083 | a0002c0051t0006a0002c0053t0022a0006c0083t0004 | a0002c0051t0006g0081a0002c0053t0022g0041a0006c0083t0004g0006 | 3 | 126 | 0.0238 | 16 | c.86- others(35): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4841911 | C | CAAACAAA others(9): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02683.hp1 HG03579.hp2 others(8): Show |
a0001a0002a0008others(2): Show | a0001c0006a0001c0021a0001c0040others(8): Show | a0001c0006t0002a0001c0021t0005a0001c0040t0019others(8): Show | a0001c0006t0002g0109a0001c0021t0005g0012a0001c0040t0019g0123others(8): Show | 11 | 126 | 0.0873 | 16 | c.85+ others(35): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4841911 | C | CAAACAAA others(9): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0053 | a0002c0053t0022 | a0002c0053t0022g0041 | 1 | 126 | 0.0079 | 16 | c.85+ others(35): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar |