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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CSMD1_chr8_2930361_4999914 | 3564517 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01884.hp1 HG02622.hp2 others(8): Show |
a0001a0002a0020others(3): Show | a0001c0046a0001c0047a0001c0050others(8): Show | a0001c0046t0073a0001c0047t0014a0001c0050t0053others(8): Show | a0001c0046t0073g0091 a0001c0047t0014g0024 a0001c0050t0053g0120 others(8): Show |
11 | 126 | 0.0873 | 8 | c.134 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3565199 | C | CAGATAGA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG03540.hp2 others(4): Show |
a0001a0002a0009others(2): Show | a0001c0001a0001c0111a0002c0035others(3): Show | a0001c0001t0002a0001c0001t0039a0001c0111t0045others(4): Show | a0001c0001t0002g0102 a0001c0001t0039g0017 a0001c0111t0045g0063 others(4): Show |
7 | 126 | 0.0556 | 8 | c.134 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3599149 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG04228.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0093 | a0001c0001t0002a0001c0093t0009 | a0001c0001t0002g0125 a0001c0093t0009g0007 |
2 | 126 | 0.0159 | 8 | c.109 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 8/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3613737 | A | ACACACAC others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01255.hp2 |
a0001a0013 | a0001c0049a0013c0018 | a0001c0049t0002a0013c0018t0058 | a0001c0049t0002g0071 a0013c0018t0058g0068 |
2 | 126 | 0.0159 | 8 | c.109 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 8/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3644966 | G | GAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02965.hp1 others(2): Show |
a0001a0002a0005others(1): Show | a0001c0093a0002c0022a0002c0074others(2): Show | a0001c0093t0009a0002c0022t0036a0002c0074t0041others(2): Show | a0001c0093t0009g0007 a0002c0022t0036g0048 a0002c0074t0041g0031 others(2): Show |
5 | 126 | 0.0397 | 8 | c.101 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 7/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3658464 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00735.hp1 others(17): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0002a0001c0002t0002a0001c0003t0013others(17): Show | a0001c0001t0002g0125 a0001c0002t0002g0083 a0001c0003t0013g0026 others(17): Show |
20 | 126 | 0.1587 | 8 | c.101 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 7/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3703436 | T | TTTCATTC others(1): Show |
intron_variant | MODIFIER | HG01071.hp2 HG02723.hp2 HG02965.hp1 others(1): Show |
a0001a0005a0024 | a0001c0047a0001c0093a0005c0065others(1): Show | a0001c0047t0014a0001c0093t0009a0005c0065t0023others(1): Show | a0001c0047t0014g0024 a0001c0093t0009g0007 a0005c0065t0023g0050 others(1): Show |
4 | 126 | 0.0318 | 8 | c.100 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 7/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3714025 | C | CAGATAGA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01074.hp1 HG01123.hp2 others(39): Show |
a0001a0002a0004others(15): Show | a0001c0003a0001c0005a0001c0007others(38): Show | a0001c0003t0008a0001c0003t0019a0001c0005t0002others(39): Show | a0001c0003t0008g0053 a0001c0003t0019g0107 a0001c0005t0002g0111 others(39): Show |
42 | 126 | 0.3333 | 8 | c.932 others(25): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3714561 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG02572.hp2 others(5): Show |
a0001a0002a0004others(4): Show | a0001c0019a0001c0039a0002c0051others(5): Show | a0001c0019t0078a0001c0039t0066a0002c0051t0006others(5): Show | a0001c0019t0078g0105 a0001c0039t0066g0080 a0002c0051t0006g0081 others(5): Show |
8 | 126 | 0.0635 | 8 | c.932 others(25): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3720620 | T | TTCACACA others(1): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03209.hp2 |
a0002 | a0002c0060a0002c0084 | a0002c0060t0006a0002c0084t0018 | a0002c0060t0006g0094 a0002c0084t0018g0087 |
2 | 126 | 0.0159 | 8 | c.932 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3754433 | C | CTTATTTA others(1): Show |
intron_variant | MODIFIER | HG03130.hp2 HG03209.hp2 HG03579.hp2 others(7): Show |
a0001a0002a0028others(5): Show | a0001c0001a0001c0068a0001c0109others(7): Show | a0001c0001t0002a0001c0068t0015a0001c0109t0038others(7): Show | a0001c0001t0002g0102 a0001c0068t0015g0049 a0001c0109t0038g0013 others(7): Show |
10 | 126 | 0.0794 | 8 | c.819 others(23): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3772167 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01081.hp1 HG02056.hp1 others(5): Show |
a0001a0013 | a0001c0001a0001c0002a0001c0020others(5): Show | a0001c0001t0002a0001c0002t0002a0001c0020t0016others(5): Show | a0001c0001t0002g0102 a0001c0002t0002g0083 a0001c0020t0016g0065 others(5): Show |
8 | 126 | 0.0635 | 8 | c.819 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3772332 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01074.hp2 HG01884.hp2 others(18): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0004others(18): Show | a0001c0001t0039a0001c0002t0028a0001c0004t0020others(18): Show | a0001c0001t0039g0017 a0001c0002t0028g0005 a0001c0004t0020g0086 others(18): Show |
21 | 126 | 0.1667 | 8 | c.819 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3795278 | G | GATATAGA others(1): Show |
intron_variant | MODIFIER | HG02129.hp1 HG02622.hp2 HG02647.hp2 others(7): Show |
a0001a0002a0020others(2): Show | a0001c0045a0001c0050a0001c0103others(7): Show | a0001c0045t0012a0001c0050t0053a0001c0103t0033others(7): Show | a0001c0045t0012g0010 a0001c0050t0053g0120 a0001c0103t0033g0028 others(7): Show |
10 | 126 | 0.0794 | 8 | c.819 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3796292 | A | ATAGATAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01071.hp1 HG01071.hp2 others(16): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0001c0006others(14): Show | a0001c0001t0002a0001c0003t0008a0001c0003t0019others(16): Show | a0001c0001t0002g0125 a0001c0003t0008g0053 a0001c0003t0019g0107 others(16): Show |
19 | 126 | 0.1508 | 8 | c.819 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3819561 | C | CACACACT others(1): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02965.hp1 HG03139.hp1 others(6): Show |
a0001a0002a0024others(2): Show | a0001c0004a0001c0068a0002c0032others(6): Show | a0001c0004t0063a0001c0068t0015a0002c0032t0050others(6): Show | a0001c0004t0063g0095 a0001c0068t0015g0049 a0002c0032t0050g0061 others(6): Show |
9 | 126 | 0.0714 | 8 | c.819 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3848089 | C | CTCTCTCT others(1): Show |
intron_variant | MODIFIER | NA18982.hp1 NA19060.hp1 |
a0001a0003 | a0001c0007a0003c0086 | a0001c0007t0001a0003c0086t0002 | a0001c0007t0001g0035 a0003c0086t0002g0118 |
2 | 126 | 0.0159 | 8 | c.819 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3889452 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01081.hp2 NA19240.hp1 NA19240.hp2 |
a0001a0005 | a0001c0045a0001c0085a0005c0107 | a0001c0045t0012a0001c0085t0020a0005c0107t0068 | a0001c0045t0012g0010 a0001c0085t0020g0060 a0005c0107t0068g0073 |
3 | 126 | 0.0238 | 8 | c.818 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3893339 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03098.hp1 |
a0001 | a0001c0002a0001c0046 | a0001c0002t0028a0001c0046t0073 | a0001c0002t0028g0005 a0001c0046t0073g0091 |
2 | 126 | 0.0159 | 8 | c.818 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3968004 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02074.hp2 HG03098.hp2 others(3): Show |
a0001a0002a0003others(3): Show | a0001c0073a0002c0091a0003c0086others(3): Show | a0001c0073t0007a0002c0091t0002a0003c0086t0002others(3): Show | a0001c0073t0007g0108 a0002c0091t0002g0114 a0003c0086t0002g0118 others(3): Show |
6 | 126 | 0.0476 | 8 | c.818 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3982197 | A | AATATTAA others(1): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01255.hp2 HG04204.hp2 others(1): Show |
a0001a0002a0003 | a0001c0001a0001c0049a0002c0077others(1): Show | a0001c0001t0002a0001c0049t0002a0002c0077t0001others(1): Show | a0001c0001t0002g0102 a0001c0049t0002g0071 a0002c0077t0001g0016 others(1): Show |
4 | 126 | 0.0318 | 8 | c.818 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4003419 | C | CAAACAAA others(1): Show |
intron_variant | MODIFIER | HG03579.hp1 NA19240.hp2 |
a0001a0007 | a0001c0045a0007c0116 | a0001c0045t0012a0007c0116t0004 | a0001c0045t0012g0010 a0007c0116t0004g0039 |
2 | 126 | 0.0159 | 8 | c.611 others(25): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 4/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4051881 | T | TCTCCTTC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp2 others(61): Show |
a0001a0002a0004others(20): Show | a0001c0001a0001c0002a0001c0003others(58): Show | a0001c0001t0002a0001c0001t0039a0001c0002t0028others(60): Show | a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0039g0017 others(61): Show |
64 | 126 | 0.5079 | 8 | c.416 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4077297 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01261.hp1 HG02683.hp1 |
a0001 | a0001c0005a0001c0021a0001c0108 | a0001c0005t0007a0001c0021t0005a0001c0108t0054 | a0001c0005t0007g0070 a0001c0021t0005g0012 a0001c0108t0054g0074 |
3 | 126 | 0.0238 | 8 | c.416 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4093965 | A | AATAGATA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01123.hp1 HG01255.hp2 others(7): Show |
a0001a0006a0009others(2): Show | a0001c0002a0001c0004a0001c0039others(7): Show | a0001c0002t0028a0001c0004t0020a0001c0039t0066others(7): Show | a0001c0002t0028g0005 a0001c0004t0020g0086 a0001c0039t0066g0080 others(7): Show |
10 | 126 | 0.0794 | 8 | c.416 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4103265 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01074.hp1 HG01081.hp2 others(16): Show |
a0001a0002a0004others(6): Show | a0001c0004a0001c0005a0001c0019others(16): Show | a0001c0004t0063a0001c0005t0002a0001c0019t0078others(16): Show | a0001c0004t0063g0095 a0001c0005t0002g0111 a0001c0019t0078g0105 others(16): Show |
19 | 126 | 0.1508 | 8 | c.416 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4140196 | A | AAAACAAA others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01071.hp2 HG01074.hp2 others(17): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0003a0001c0006others(15): Show | a0001c0002t0028a0001c0002t0061a0001c0003t0008others(17): Show | a0001c0002t0028g0005 a0001c0002t0061g0069 a0001c0003t0008g0053 others(17): Show |
20 | 126 | 0.1587 | 8 | c.416 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4143131 | A | AGAGGATT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00438.hp1 others(33): Show |
a0001a0002a0004others(14): Show | a0001c0001a0001c0003a0001c0005others(31): Show | a0001c0001t0002a0001c0001t0039a0001c0003t0013others(33): Show | a0001c0001t0002g0102 a0001c0001t0039g0017 a0001c0003t0013g0026 others(33): Show |
36 | 126 | 0.2857 | 8 | c.416 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4181957 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01071.hp2 HG01074.hp2 others(15): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0003a0001c0006others(14): Show | a0001c0002t0061a0001c0003t0008a0001c0003t0019others(15): Show | a0001c0002t0061g0069 a0001c0003t0008g0053 a0001c0003t0019g0107 others(15): Show |
18 | 126 | 0.1429 | 8 | c.416 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4181958 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03579.hp2 NA20129.hp1 |
a0002a0032a0039 | a0002c0070a0032c0024a0039c0010 | a0002c0070t0046a0032c0024t0077a0039c0010t0070 | a0002c0070t0046g0092 a0032c0024t0077g0104 a0039c0010t0070g0084 |
3 | 126 | 0.0238 | 8 | c.416 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4332552 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01255.hp1 NA18971.hp2 |
a0002a0036 | a0002c0031a0036c0095 | a0002c0031t0015a0036c0095t0002 | a0002c0031t0015g0001 a0036c0095t0002g0124 |
2 | 126 | 0.0159 | 8 | c.415 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4354865 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02056.hp1 HG02074.hp1 others(4): Show |
a0001a0002a0036 | a0001c0001a0001c0002a0001c0079others(4): Show | a0001c0001t0002a0001c0002t0002a0001c0079t0072others(4): Show | a0001c0001t0002g0125 a0001c0002t0002g0083 a0001c0079t0072g0113 others(4): Show |
7 | 126 | 0.0556 | 8 | c.415 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4387570 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG03710.hp1 HG03834.hp1 HG04228.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0006a0001c0050others(2): Show | a0001c0001t0002a0001c0006t0060a0001c0050t0053others(2): Show | a0001c0001t0002g0125 a0001c0006t0060g0103 a0001c0050t0053g0120 others(2): Show |
5 | 126 | 0.0397 | 8 | c.415 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4388303 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | NA18995.hp1 NA19240.hp2 |
a0001 | a0001c0045a0001c0109 | a0001c0045t0012a0001c0109t0038 | a0001c0045t0012g0010 a0001c0109t0038g0013 |
2 | 126 | 0.0159 | 8 | c.415 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4455929 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02922.hp2 HG03540.hp2 others(4): Show |
a0001a0003a0008others(2): Show | a0001c0005a0001c0019a0001c0080others(4): Show | a0001c0005t0002a0001c0019t0078a0001c0080t0040others(4): Show | a0001c0005t0002g0111 a0001c0019t0078g0105 a0001c0080t0040g0025 others(4): Show |
7 | 126 | 0.0556 | 8 | c.303 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4484980 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01255.hp1 HG02723.hp2 others(2): Show |
a0001a0002a0005others(1): Show | a0001c0007a0001c0102a0002c0031others(2): Show | a0001c0007t0001a0001c0102t0005a0002c0031t0015others(2): Show | a0001c0007t0001g0035 a0001c0102t0005g0034 a0002c0031t0015g0001 others(2): Show |
5 | 126 | 0.0397 | 8 | c.303 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4519742 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01934.hp1 HG02486.hp1 others(2): Show |
a0001a0017a0024others(1): Show | a0001c0003a0001c0046a0017c0101others(2): Show | a0001c0003t0019a0001c0046t0073a0017c0101t0008others(2): Show | a0001c0003t0019g0107 a0001c0046t0073g0091 a0017c0101t0008g0023 others(2): Show |
5 | 126 | 0.0397 | 8 | c.303 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4594195 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01071.hp2 NA19043.hp1 others(2): Show |
a0001a0002 | a0001c0047a0001c0090a0001c0093others(2): Show | a0001c0047t0014a0001c0090t0001a0001c0093t0009others(2): Show | a0001c0047t0014g0024 a0001c0090t0001g0027 a0001c0093t0009g0007 others(2): Show |
5 | 126 | 0.0397 | 8 | c.302 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4604410 | T | TGTGCGCG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp2 others(26): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0007others(26): Show | a0001c0001t0002a0001c0005t0007a0001c0007t0001others(26): Show | a0001c0001t0002g0125 a0001c0005t0007g0070 a0001c0007t0001g0035 others(26): Show |
29 | 126 | 0.2302 | 8 | c.302 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4604410 | T | TGTGTGCG others(1): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01934.hp2 HG02074.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0079a0001c0090others(6): Show | a0001c0001t0002a0001c0079t0072a0001c0090t0001others(6): Show | a0001c0001t0002g0102 a0001c0079t0072g0113 a0001c0090t0001g0027 others(6): Show |
9 | 126 | 0.0714 | 8 | c.302 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4618298 | G | GTCTTATT others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00438.hp2 others(77): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0002a0001c0003others(74): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0028others(77): Show | a0001c0001t0002g0125 a0001c0002t0002g0083 a0001c0002t0028g0005 others(77): Show |
80 | 126 | 0.6349 | 8 | c.302 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4645444 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01243.hp2 HG02074.hp2 others(15): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0080others(15): Show | a0001c0001t0039a0001c0005t0002a0001c0080t0040others(15): Show | a0001c0001t0039g0017 a0001c0005t0002g0111 a0001c0080t0040g0025 others(15): Show |
18 | 126 | 0.1429 | 8 | c.86- others(23): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4682955 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02280.hp1 HG03139.hp1 others(1): Show |
a0002a0037 | a0002c0053a0002c0074a0002c0091others(1): Show | a0002c0053t0022a0002c0074t0041a0002c0091t0002others(1): Show | a0002c0053t0022g0041 a0002c0074t0041g0031 a0002c0091t0002g0114 others(1): Show |
4 | 126 | 0.0318 | 8 | c.86- others(25): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4710464 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02886.hp2 HG03195.hp1 others(3): Show |
a0001a0002a0030others(1): Show | a0001c0085a0002c0051a0002c0054others(3): Show | a0001c0085t0020a0002c0051t0006a0002c0054t0079others(3): Show | a0001c0085t0020g0060 a0002c0051t0006g0081 a0002c0054t0079g0096 others(3): Show |
6 | 126 | 0.0476 | 8 | c.86- others(25): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4717310 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01123.hp1 HG02258.hp1 others(13): Show |
a0001a0002a0006others(5): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0002a0001c0003t0013a0001c0004t0020others(13): Show | a0001c0001t0002g0102 a0001c0003t0013g0026 a0001c0004t0020g0086 others(13): Show |
16 | 126 | 0.1270 | 8 | c.86- others(25): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4717549 | C | CCTATCTA others(1): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02723.hp1 HG03139.hp1 others(1): Show |
a0001a0002a0020others(1): Show | a0001c0017a0002c0074a0020c0112others(1): Show | a0001c0017t0005a0002c0074t0041a0020c0112t0081others(1): Show | a0001c0017t0005g0003 a0002c0074t0041g0031 a0020c0112t0081g0090 others(1): Show |
4 | 126 | 0.0318 | 8 | c.86- others(25): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4717563 | T | TATCTATC others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01123.hp1 HG02257.hp1 others(25): Show |
a0001a0002a0006others(10): Show | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0002a0001c0002t0028a0001c0003t0013others(25): Show | a0001c0001t0002g0102 a0001c0002t0028g0005 a0001c0003t0013g0026 others(25): Show |
28 | 126 | 0.2222 | 8 | c.86- others(25): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4732344 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01261.hp2 HG02647.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0059a0001c0102others(4): Show | a0001c0003t0008a0001c0059t0001a0001c0102t0005others(4): Show | a0001c0003t0008g0053 a0001c0059t0001g0036 a0001c0102t0005g0034 others(4): Show |
7 | 126 | 0.0556 | 8 | c.86- others(25): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4761836 | C | CATCCATC others(1): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02922.hp1 |
a0001a0022 | a0001c0004a0022c0062 | a0001c0004t0020a0022c0062t0056 | a0001c0004t0020g0086 a0022c0062t0056g0062 |
2 | 126 | 0.0159 | 8 | c.86- others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4761836 | C | CATCTATC others(1): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02258.hp2 HG03669.hp1 others(3): Show |
a0001 | a0001c0006a0001c0007a0001c0090others(2): Show | a0001c0006t0002a0001c0007t0001a0001c0007t0032others(3): Show | a0001c0006t0002g0109 a0001c0007t0001g0035 a0001c0007t0032g0033 others(3): Show |
6 | 126 | 0.0476 | 8 | c.86- others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar |