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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CSF2RA_chrX_1263814_1314935 | 1298103 | CAACCCCC others(4): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG01106.hp1 HG01175.hp1 others(23): Show |
a0001a0006a0011 | a0001c0001a0001c0002a0001c0015others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0017others(23): Show | 26 | 159 | 0.1635 | -11 | c.811 others(28): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1298106 | CCCCCGGT others(4): Show |
C | intron_variant | MODIFIER | HG02572.hp2 | a0004 | a0004c0010 | a0004c0010t0003 | a0004c0010t0003g0158 | 1 | 159 | 0.0063 | -11 | c.811 others(28): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1298515 | AGCCGTAG others(4): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01169.hp1 HG02165.hp2 others(3): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0003c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0048a0001c0001t0002g0061a0001c0002t0001g0077others(3): Show | 6 | 159 | 0.0377 | -11 | c.811 others(28): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1298547 | CAACCCCC others(4): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG01106.hp1 HG01175.hp1 others(23): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0015others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0017others(23): Show | 26 | 159 | 0.1635 | -11 | c.811 others(28): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1298550 | CCCCCGGT others(4): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0032a0001c0001t0003g0045 | 2 | 159 | 0.0126 | -11 | c.811 others(28): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1301331 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00423.hp2 NA18954.hp2 NA18961.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0066a0001c0001t0001g0092a0001c0001t0003g0093 | 3 | 159 | 0.0189 | -11 | c.946 others(26): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSGALNACT1_chr8_19399161_19762277 | 19459382 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00733.hp1 others(14): Show |
a0001a0009a0013 | a0001c0002a0001c0007a0009c0020others(1): Show | a0001c0002t0002a0001c0002t0006a0001c0002t0014others(4): Show | a0001c0002t0002g0008a0001c0002t0002g0027a0001c0002t0002g0046others(14): Show | 17 | 238 | 0.0714 | -11 | c.635 others(26): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19478413 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01361.hp1 | a0010 | a0010c0018 | a0010c0018t0003 | a0010c0018t0003g0039 | 1 | 238 | 0.0042 | -11 | c.635 others(30): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19666800 | AAAGAAAG others(4): Show |
A | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0036 | 1 | 238 | 0.0042 | -11 | c.-39 others(32): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19667025 | AAGGAAGG others(4): Show |
A | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0098 | 1 | 238 | 0.0042 | -11 | c.-39 others(32): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19673413 | ATCATGAG others(4): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02622.hp1 HG02630.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0023a0001c0002t0047a0002c0003t0005 | a0001c0002t0023g0096a0001c0002t0047g0197a0002c0003t0005g0052 | 3 | 238 | 0.0126 | -11 | c.-39 others(32): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19755456 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01081.hp2 HG01515.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0160a0001c0001t0001g0167a0001c0001t0001g0171others(8): Show | 11 | 238 | 0.0462 | -11 | c.-39 others(30): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSH1_chr17_63889918_63901574 | 63891994 | AAAAACAA others(4): Show |
A | downstream_gene_variant | MODIFIER | HG02970.hp1 HG03209.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 3 | 428 | 0.0070 | -11 | c.*30 others(22): Show |
CSH1 | ENSG00000136488.15 | transcript | ENST00000316193.13 | protein_coding | 2923 | chr17 | TogoVar | ||||||
CSHL1_chr17_63904608_63916258 | 63911873 | AGGGAGGG others(4): Show |
A | upstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0035 | 1 | 438 | 0.0023 | -11 | c.-68 others(20): Show |
CSHL1 | ENSG00000204414.14 | transcript | ENST00000309894.6 | protein_coding | 616 | chr17 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 2943364 | ATGACAGG others(4): Show |
A | intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0075 | a0002c0075t0026 | a0002c0075t0026g0051 | 1 | 126 | 0.0079 | -11 | c.104 others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 68/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3083642 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG02965.hp2 | a0038 | a0038c0066 | a0038c0066t0010 | a0038c0066t0010g0032 | 1 | 126 | 0.0079 | -11 | c.747 others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 49/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3083644 | ATATATTT others(4): Show |
A | intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0030 | a0002c0030t0016 | a0002c0030t0016g0122 | 1 | 126 | 0.0079 | -11 | c.747 others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 49/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3260832 | AAAGACCC others(4): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02922.hp2 |
a0031a0033 | a0031c0069a0033c0042 | a0031c0069t0043a0033c0042t0004 | a0031c0069t0043g0100a0033c0042t0004g0004 | 2 | 126 | 0.0159 | -11 | c.415 others(32): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 26/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3551592 | ATATATTT others(4): Show |
A | intron_variant | MODIFIER | HG02074.hp2 HG03834.hp2 NA18522.hp2 others(1): Show |
a0001a0002 | a0001c0040a0001c0102a0002c0072others(1): Show | a0001c0040t0019a0001c0102t0005a0002c0072t0003others(1): Show | a0001c0040t0019g0123a0001c0102t0005g0034a0002c0072t0003g0066others(1): Show | 4 | 126 | 0.0318 | -11 | c.134 others(32): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3660480 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0025 | a0001c0025t0003 | a0001c0025t0003g0077 | 1 | 126 | 0.0079 | -11 | c.101 others(32): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 7/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3694019 | ATGTGTTG others(4): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(115): Show |
a0001a0002a0003others(34): Show | a0001c0001a0001c0002a0001c0003others(108): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0028others(114): Show | a0001c0001t0002g0102a0001c0001t0002g0125a0001c0002t0002g0083others(115): Show | 118 | 126 | 0.9365 | -11 | c.100 others(32): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 7/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3729951 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG01243.hp1 | a0005 | a0005c0064 | a0005c0064t0051 | a0005c0064t0051g0078 | 1 | 126 | 0.0079 | -11 | c.932 others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3817252 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG03540.hp2 | a0009 | a0009c0113 | a0009c0113t0011 | a0009c0113t0011g0043 | 1 | 126 | 0.0079 | -11 | c.819 others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3890929 | TCTCTCAT others(4): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp2 HG02615.hp1 others(5): Show |
a0001a0003a0005others(4): Show | a0001c0017a0001c0111a0003c0034others(5): Show | a0001c0017t0005a0001c0111t0045a0003c0034t0030others(5): Show | a0001c0017t0005g0003a0001c0111t0045g0063a0003c0034t0030g0038others(5): Show | 8 | 126 | 0.0635 | -11 | c.818 others(32): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4113390 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02257.hp1 | a0007 | a0007c0088 | a0007c0088t0076 | a0007c0088t0076g0057 | 1 | 126 | 0.0079 | -11 | c.416 others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4138044 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG02056.hp1 HG02258.hp2 HG02572.hp2 others(4): Show |
a0001a0002a0006others(2): Show | a0001c0002a0001c0115a0002c0015others(4): Show | a0001c0002t0002a0001c0115t0042a0002c0015t0021others(4): Show | a0001c0002t0002g0083a0001c0115t0042g0055a0002c0015t0021g0008others(4): Show | 7 | 126 | 0.0556 | -11 | c.416 others(32): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4146592 | ACATTTTT others(4): Show |
A | intron_variant | MODIFIER | HG01243.hp1 | a0005 | a0005c0064 | a0005c0064t0051 | a0005c0064t0051g0078 | 1 | 126 | 0.0079 | -11 | c.416 others(32): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4146594 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0051 | a0002c0051t0006 | a0002c0051t0006g0081 | 1 | 126 | 0.0079 | -11 | c.416 others(32): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4201540 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01261.hp2 HG02055.hp1 HG02258.hp1 others(2): Show |
a0001a0003a0006others(1): Show | a0001c0085a0001c0114a0003c0034others(2): Show | a0001c0085t0020a0001c0114t0003a0003c0034t0030others(2): Show | a0001c0085t0020g0060a0001c0114t0003g0119a0003c0034t0030g0038others(2): Show | 5 | 126 | 0.0397 | -11 | c.416 others(32): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4212748 | ATTCTTTT others(4): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG02280.hp1 HG02965.hp2 others(2): Show |
a0001a0002a0027others(1): Show | a0001c0081a0002c0032a0002c0053others(2): Show | a0001c0081t0037a0002c0032t0050a0002c0053t0022others(2): Show | a0001c0081t0037g0030a0002c0032t0050g0061a0002c0053t0022g0041others(2): Show | 5 | 126 | 0.0397 | -11 | c.416 others(32): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4303420 | CTGTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01255.hp2 |
a0001 | a0001c0049a0001c0073 | a0001c0049t0002a0001c0073t0007 | a0001c0049t0002g0071a0001c0073t0007g0108 | 2 | 126 | 0.0159 | -11 | c.415 others(32): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4303422 | GTTTTTTT others(4): Show |
G | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0050 | a0001c0050t0053 | a0001c0050t0053g0120 | 1 | 126 | 0.0079 | -11 | c.415 others(32): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4455929 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp2 HG02451.hp2 others(7): Show |
a0001a0002a0006others(2): Show | a0001c0043a0001c0111a0001c0115others(7): Show | a0001c0043t0031a0001c0111t0045a0001c0115t0042others(7): Show | a0001c0043t0031g0044a0001c0111t0045g0063a0001c0115t0042g0055others(7): Show | 10 | 126 | 0.0794 | -11 | c.303 others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4464864 | GTTTTATT others(4): Show |
G | intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0017 | 1 | 126 | 0.0079 | -11 | c.303 others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4519742 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01243.hp2 | a0035 | a0035c0098 | a0035c0098t0025 | a0035c0098t0025g0019 | 1 | 126 | 0.0079 | -11 | c.303 others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4743494 | GTACCATG others(4): Show |
G | intron_variant | MODIFIER | HG03579.hp1 | a0006 | a0006c0116 | a0006c0116t0004 | a0006c0116t0004g0039 | 1 | 126 | 0.0079 | -11 | c.86- others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4795252 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00735.hp1 others(20): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0001c0049others(19): Show | a0001c0001t0002a0001c0003t0008a0001c0049t0002others(19): Show | a0001c0001t0002g0102a0001c0001t0002g0125a0001c0003t0008g0053others(20): Show | 23 | 126 | 0.1825 | -11 | c.86- others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4835001 | GAAAGAAA others(4): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(50): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0003others(47): Show | a0001c0001t0002a0001c0001t0039a0001c0002t0061others(49): Show | a0001c0001t0002g0102a0001c0001t0002g0125a0001c0001t0039g0017others(50): Show | 53 | 126 | 0.4206 | -11 | c.85+ others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4920963 | AAAGAAAG others(4): Show |
A | intron_variant | MODIFIER | HG01261.hp2 | a0016 | a0016c0063 | a0016c0063t0010 | a0016c0063t0010g0045 | 1 | 126 | 0.0079 | -11 | c.85+ others(28): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4920979 | AAACAAAG others(4): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0006 | a0006c0083 | a0006c0083t0004 | a0006c0083t0004g0006 | 1 | 126 | 0.0079 | -11 | c.85+ others(28): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 33510173 | AGGGAGAC others(4): Show |
A | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG01074.hp2 others(10): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0042a0001c0045others(10): Show | a0001c0001t0005a0001c0042t0005a0001c0045t0013others(10): Show | a0001c0001t0005g0055a0001c0042t0005g0051a0001c0045t0013g0027others(10): Show | 13 | 66 | 0.1970 | -11 | c.*64 others(22): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 3824 | chr1 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 33790701 | ATCATCTA others(4): Show |
A | intron_variant | MODIFIER | HG03453.hp2 | a0007 | a0007c0024 | a0007c0024t0002 | a0007c0024t0002g0057 | 1 | 66 | 0.0152 | -11 | c.155 others(30): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 11/70 | chr1 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 33908085 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02965.hp1 | a0015 | a0015c0053 | a0015c0053t0002 | a0015c0053t0002g0024 | 1 | 66 | 0.0152 | -11 | c.920 others(29): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 5/70 | chr1 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 112470686 | ACAAAATG others(4): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG01074.hp1 others(20): Show |
a0001a0002a0009others(2): Show | a0001c0001a0001c0006a0001c0007others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0016a0001c0001t0003g0010a0001c0001t0003g0023others(20): Show | 23 | 80 | 0.2875 | -11 | c.539 others(30): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 32/70 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 112520738 | CCAAATAT others(4): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG01074.hp2 others(20): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0007others(12): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(15): Show | a0001c0001t0003g0010a0001c0001t0004g0058a0001c0001t0007g0041others(20): Show | 23 | 80 | 0.2875 | -11 | c.456 others(30): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 27/70 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 112609201 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG01081.hp1 others(9): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0003a0002c0010others(4): Show | a0001c0001t0001a0001c0001t0004a0002c0003t0006others(6): Show | a0001c0001t0001g0016a0001c0001t0004g0067a0002c0003t0006g0009others(9): Show | 12 | 80 | 0.1500 | -11 | c.371 others(32): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 22/70 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 112643721 | ATCACAGT others(4): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0008 | a0008c0014 | a0008c0014t0005 | a0008c0014t0005g0040 | 1 | 80 | 0.0125 | -11 | c.331 others(30): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 20/70 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 113086506 | AATTCAAA others(4): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00673.hp1 others(54): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0006a0001c0007others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0016a0001c0001t0002g0014a0001c0001t0003g0010others(54): Show | 57 | 80 | 0.7125 | -11 | c.917 others(30): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 5/70 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 113222015 | ATGCTTTG others(4): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG01074.hp1 HG01109.hp1 others(34): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0006a0001c0007others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0016a0001c0001t0002g0014a0001c0001t0003g0010others(34): Show | 37 | 80 | 0.4625 | -11 | c.515 others(30): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 3/70 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 113374837 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0043 | 1 | 80 | 0.0125 | -11 | c.179 others(30): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 1/70 | chr8 | TogoVar |