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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CSF2RA_chrX_1263814_1314935 | 1280976 | G | GCTTCTCC others(8): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0057 | 1 | 68 | 0.0147 | 15 | c.-26 others(32): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1281056 | T | TCTCCTCC others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG01081.hp1 others(26): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0016others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0048 others(26): Show |
29 | 141 | 0.2057 | 15 | c.-26 others(32): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1281063 | C | CTCCTTCT others(8): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01884.hp1 HG02572.hp2 others(6): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0002a0001c0001t0005a0001c0002t0009others(4): Show | a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0106 others(6): Show |
9 | 157 | 0.0573 | 15 | c.-26 others(32): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1282031 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01981.hp2 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0086 a0001c0001t0003g0152 |
2 | 16 | 0.1250 | 15 | c.-26 others(30): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19485759 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01081.hp1 HG02622.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0007a0001c0002t0008 | a0001c0002t0005g0075 a0001c0002t0007g0037 a0001c0002t0007g0126 others(4): Show |
7 | 48 | 0.1458 | 15 | c.634 others(34): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19553639 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0184 | 1 | 235 | 0.0043 | 15 | c.-29 others(36): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19597285 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02897.hp1 HG03516.hp2 NA18522.hp1 others(1): Show |
a0001 | a0001c0002a0001c0017 | a0001c0002t0003a0001c0002t0016a0001c0017t0023 | a0001c0002t0003g0098 a0001c0002t0016g0162 a0001c0002t0016g0173 others(1): Show |
4 | 19 | 0.2105 | 15 | c.-29 others(34): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19649819 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0017 | 1 | 17 | 0.0588 | 15 | c.-39 others(36): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSHL1_chr17_63904608_63916258 | 63904785 | C | CTTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0042 | 1 | 425 | 0.0024 | 15 | c.*49 others(26): Show |
CSHL1 | ENSG00000204414.14 | transcript | ENST00000309894.6 | protein_coding | 4822 | chr17 | TogoVar | |||||||
CSK_chr15_74777080_74808197 | 74805941 | C | CAACCGGT others(8): Show |
downstream_gene_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 392 | 0.0026 | 15 | c.*34 others(26): Show |
CSK | ENSG00000103653.17 | transcript | ENST00000220003.14 | protein_coding | 2745 | chr15 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3083649 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0061 | a0001c0061t0001 | a0001c0061t0001g0021 | 1 | 116 | 0.0086 | 15 | c.747 others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 49/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3155359 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02622.hp2 HG02965.hp1 |
a0001a0020a0024 | a0001c0115a0020c0112a0024c0052 | a0001c0115t0042a0020c0112t0081a0024c0052t0049 | a0001c0115t0042g0055 a0020c0112t0081g0090 a0024c0052t0049g0098 |
3 | 8 | 0.3750 | 15 | c.591 others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 39/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3194408 | C | CTATTTTA others(8): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01071.hp1 HG01081.hp1 others(2): Show |
a0001a0002a0011others(1): Show | a0001c0003a0001c0049a0002c0041others(2): Show | a0001c0003t0008a0001c0049t0002a0002c0041t0025others(2): Show | a0001c0003t0008g0053 a0001c0049t0002g0071 a0002c0041t0025g0018 others(2): Show |
5 | 40 | 0.1250 | 15 | c.519 others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 33/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3308254 | G | GGTGCAAG others(8): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0017 | 1 | 126 | 0.0079 | 15 | c.382 others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 24/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3439122 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0019 | a0001c0019t0078 | a0001c0019t0078g0105 | 1 | 78 | 0.0128 | 15 | c.156 others(36): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3439309 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0013 | a0013c0018 | a0013c0018t0058 | a0013c0018t0058g0068 | 1 | 45 | 0.0222 | 15 | c.156 others(36): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3485762 | A | AAAAATAA others(8): Show |
intron_variant | MODIFIER | HG03017.hp1 HG03540.hp1 |
a0001a0002 | a0001c0002a0002c0015 | a0001c0002t0061a0002c0015t0021 | a0001c0002t0061g0069 a0002c0015t0021g0008 |
2 | 15 | 0.1333 | 15 | c.144 others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 11/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3488086 | G | GTATTATT others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01071.hp2 HG02486.hp1 |
a0001a0009a0017 | a0001c0047a0009c0097a0017c0101 | a0001c0047t0012a0009c0097t0017a0017c0101t0008 | a0001c0047t0012g0024 a0009c0097t0017g0089 a0017c0101t0008g0023 |
3 | 70 | 0.0429 | 15 | c.144 others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 11/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3597422 | T | TATGATCA others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00423.hp2 others(92): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0002a0001c0003others(89): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0026others(92): Show | a0001c0001t0002g0125 a0001c0002t0002g0083 a0001c0002t0026g0005 others(92): Show |
95 | 126 | 0.7540 | 15 | c.109 others(36): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 8/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3709680 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0026 | a0026c0100 | a0026c0100t0016 | a0026c0100t0016g0121 | 1 | 37 | 0.0270 | 15 | c.932 others(32): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3714561 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01243.hp2 HG02055.hp1 others(15): Show |
a0001a0002a0006others(4): Show | a0001c0002a0001c0006a0001c0043others(15): Show | a0001c0002t0026a0001c0006t0002a0001c0043t0031others(15): Show | a0001c0002t0026g0005 a0001c0006t0002g0109 a0001c0043t0031g0044 others(15): Show |
18 | 27 | 0.6667 | 15 | c.932 others(32): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3754433 | C | CTTATTTA others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01074.hp2 HG02559.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0005a0001c0043others(1): Show | a0001c0001t0038a0001c0005t0006a0001c0043t0031others(1): Show | a0001c0001t0038g0017 a0001c0005t0006g0070 a0001c0043t0031g0044 others(1): Show |
4 | 49 | 0.0816 | 15 | c.819 others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3795877 | T | TCATGTAC others(8): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0002 | a0002c0076 | a0002c0076t0039 | a0002c0076t0039g0014 | 1 | 126 | 0.0079 | 15 | c.819 others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3796112 | C | CATAGATA others(8): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0021 | a0001c0021t0005 | a0001c0021t0005g0012 | 1 | 125 | 0.0080 | 15 | c.819 others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3926094 | C | CACACACA others(8): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0046 | a0001c0046t0073 | a0001c0046t0073g0091 | 1 | 122 | 0.0082 | 15 | c.818 others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4035479 | A | ATGAAAGC others(8): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01243.hp1 HG02258.hp1 others(5): Show |
a0001a0002a0004others(1): Show | a0001c0004a0001c0114a0001c0115others(5): Show | a0001c0004t0063a0001c0114t0003a0001c0115t0042others(5): Show | a0001c0004t0063g0095 a0001c0114t0003g0119 a0001c0115t0042g0055 others(5): Show |
8 | 126 | 0.0635 | 15 | c.416 others(32): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4042815 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02055.hp2 HG02257.hp2 others(2): Show |
a0001a0002a0004others(1): Show | a0001c0004a0001c0050a0002c0075others(2): Show | a0001c0004t0063a0001c0050t0052a0002c0075t0028others(2): Show | a0001c0004t0063g0095 a0001c0050t0052g0120 a0002c0075t0028g0051 others(2): Show |
5 | 27 | 0.1852 | 15 | c.416 others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4174712 | A | AGAGGAAG others(8): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02056.hp1 HG02258.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0094others(3): Show | a0001c0001t0038a0001c0002t0002a0001c0094t0002others(3): Show | a0001c0001t0038g0017 a0001c0002t0002g0083 a0001c0094t0002g0110 others(3): Show |
6 | 125 | 0.0480 | 15 | c.416 others(36): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4174712 | A | AGAGGAAG others(8): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0033 | a0033c0013 | a0033c0013t0006 | a0033c0013t0006g0112 | 1 | 120 | 0.0083 | 15 | c.416 others(36): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4212751 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00438.hp1 NA18995.hp2 NA19030.hp1 |
a0001a0037 | a0001c0019a0001c0094a0037c0009 | a0001c0019t0078a0001c0094t0002a0037c0009t0001 | a0001c0019t0078g0105 a0001c0094t0002g0110 a0037c0009t0001g0002 |
3 | 23 | 0.1304 | 15 | c.416 others(36): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4390497 | T | TTTATTTA others(8): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03139.hp2 HG03195.hp2 others(3): Show |
a0001a0002a0019others(2): Show | a0001c0033a0001c0045a0002c0035others(3): Show | a0001c0033t0003a0001c0045t0014a0002c0035t0047others(3): Show | a0001c0033t0003g0059 a0001c0045t0014g0010 a0002c0035t0047g0076 others(3): Show |
6 | 28 | 0.2143 | 15 | c.415 others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4390497 | T | TTTTTTTA others(8): Show |
intron_variant | MODIFIER | HG02622.hp2 NA18906.hp1 |
a0002a0020 | a0002c0032a0020c0112 | a0002c0032t0053a0020c0112t0081 | a0002c0032t0053g0061 a0020c0112t0081g0090 |
2 | 24 | 0.0833 | 15 | c.415 others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4441095 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02922.hp2 HG06807.hp1 others(1): Show |
a0001a0002a0023 | a0001c0007a0002c0035a0002c0077others(1): Show | a0001c0007t0032a0002c0035t0047a0002c0077t0001others(1): Show | a0001c0007t0032g0033 a0002c0035t0047g0076 a0002c0077t0001g0016 others(1): Show |
4 | 35 | 0.1143 | 15 | c.303 others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4444346 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03130.hp1 HG03225.hp2 |
a0001a0025 | a0001c0025a0001c0026a0025c0066 | a0001c0025t0003a0001c0026t0007a0025c0066t0010 | a0001c0025t0003g0077 a0001c0026t0007g0093 a0025c0066t0010g0032 |
3 | 17 | 0.1765 | 15 | c.303 others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4510390 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0020 | a0020c0112 | a0020c0112t0081 | a0020c0112t0081g0090 | 1 | 2 | 0.5000 | 15 | c.303 others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4578332 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0002 | a0002c0077 | a0002c0077t0001 | a0002c0077t0001g0016 | 1 | 23 | 0.0435 | 15 | c.302 others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4795252 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03579.hp2 NA19030.hp1 NA20129.hp2 |
a0001a0032 | a0001c0019a0001c0111a0032c0024 | a0001c0019t0078a0001c0111t0045a0032c0024t0077 | a0001c0019t0078g0105 a0001c0111t0045g0063 a0032c0024t0077g0104 |
3 | 16 | 0.1875 | 15 | c.86- others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4841911 | C | CAAACAAA others(8): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02129.hp2 others(11): Show |
a0001a0002a0019others(3): Show | a0001c0007a0001c0017a0001c0025others(11): Show | a0001c0007t0032a0001c0017t0005a0001c0025t0003others(11): Show | a0001c0007t0032g0033 a0001c0017t0005g0003 a0001c0025t0003g0077 others(11): Show |
14 | 50 | 0.2800 | 15 | c.85+ others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4912135 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00735.hp1 HG01261.hp1 others(10): Show |
a0001a0002a0011others(3): Show | a0001c0001a0001c0003a0001c0007others(10): Show | a0001c0001t0002a0001c0003t0011a0001c0007t0001others(10): Show | a0001c0001t0002g0102 a0001c0003t0011g0026 a0001c0007t0001g0035 others(10): Show |
13 | 101 | 0.1287 | 15 | c.85+ others(32): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4925215 | G | GGTTTTTT others(8): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0109 | a0001c0109t0037 | a0001c0109t0037g0013 | 1 | 7 | 0.1429 | 15 | c.85+ others(32): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33708591 | C | CTTATTAT others(8): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02647.hp1 HG02809.hp2 others(7): Show |
a0001a0003a0006others(6): Show | a0001c0001a0003c0048a0006c0013others(7): Show | a0001c0001t0003a0003c0048t0006a0006c0013t0003others(7): Show | a0001c0001t0003g0063 a0003c0048t0006g0032 a0006c0013t0003g0058 others(7): Show |
10 | 12 | 0.8333 | 15 | c.357 others(32): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 22/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33864973 | A | AGGAGGGG others(8): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 64 | 0.0156 | 15 | c.921 others(34): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 5/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33888756 | T | TTTGTTGT others(8): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01069.hp2 HG01071.hp2 others(8): Show |
a0001a0002a0003others(4): Show | a0001c0026a0001c0040a0001c0042others(7): Show | a0001c0026t0003a0001c0040t0001a0001c0042t0005others(7): Show | a0001c0026t0003g0035 a0001c0040t0001g0010 a0001c0042t0005g0052 others(8): Show |
11 | 14 | 0.7857 | 15 | c.920 others(34): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 5/70 | chr1 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112370023 | G | GGAAGAAG others(8): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG02970.hp2 others(2): Show |
a0001a0005a0014 | a0001c0001a0005c0008a0014c0025 | a0001c0001t0004a0005c0008t0005a0014c0025t0003 | a0001c0001t0004g0042 a0001c0001t0004g0066 a0005c0008t0005g0004 others(2): Show |
5 | 15 | 0.3333 | 15 | c.613 others(36): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 38/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112370023 | G | GGAAGAGG others(8): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03225.hp2 |
a0006a0007 | a0006c0009a0007c0012 | a0006c0009t0001a0007c0012t0001 | a0006c0009t0001g0069 a0007c0012t0001g0038 |
2 | 12 | 0.1667 | 15 | c.613 others(36): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 38/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112465974 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0055 | 1 | 60 | 0.0167 | 15 | c.539 others(34): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 32/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112747183 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0044 | 1 | 4 | 0.2500 | 15 | c.197 others(36): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 13/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112747962 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0054 | 1 | 25 | 0.0400 | 15 | c.197 others(36): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 13/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 113153101 | A | AAAGAAAG others(8): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0032 | a0002c0032t0001 | a0002c0032t0001g0079 | 1 | 48 | 0.0208 | 15 | c.709 others(34): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 4/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 113296291 | T | TATAATAA others(8): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0027 | 1 | 29 | 0.0345 | 15 | c.402 others(34): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 2/70 | chr8 | TogoVar |