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 | 4802342 | TGTGTGCG others(3): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG03130.hp1 NA18522.hp1 |
a0001a0027a0033 | a0001c0026a0027c0023a0033c0042 | a0001c0026t0006a0027c0023t0001a0033c0042t0004 | a0001c0026t0006g0093 a0027c0023t0001g0052 a0033c0042t0004g0004 |
3 | 126 | 0.0238 | -10 | c.86- others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4825587 | CAAAAAGC others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01071.hp2 HG01074.hp1 others(23): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0003others(23): Show | a0001c0001t0039a0001c0002t0061a0001c0003t0019others(23): Show | a0001c0001t0039g0017 a0001c0002t0061g0069 a0001c0003t0019g0107 others(23): Show |
26 | 126 | 0.2064 | -10 | c.85+ others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4825588 | AAAAAGCA others(3): Show |
A | intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0030 | a0002c0030t0016 | a0002c0030t0016g0122 | 1 | 126 | 0.0079 | -10 | c.85+ others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4834979 | AAGAAAGA others(3): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0012 | a0012c0104 | a0012c0104t0071 | a0012c0104t0071g0058 | 1 | 126 | 0.0079 | -10 | c.85+ others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4920842 | GAAAGAAA others(3): Show |
G | intron_variant | MODIFIER | HG03579.hp2 NA19043.hp2 |
a0001a0020 | a0001c0050a0020c0024 | a0001c0050t0053a0020c0024t0077 | a0001c0050t0053g0120 a0020c0024t0077g0104 |
2 | 126 | 0.0159 | -10 | c.85+ others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4927639 | CTACATTG others(3): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0115 | a0001c0115t0042 | a0001c0115t0042g0055 | 1 | 126 | 0.0079 | -10 | c.85+ others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33557617 | GACACACA others(3): Show |
G | intron_variant | MODIFIER | HG02723.hp2 HG02886.hp2 HG06807.hp1 |
a0003a0012a0017 | a0003c0037a0012c0028a0017c0052 | a0003c0037t0007a0012c0028t0007a0017c0052t0003 | a0003c0037t0007g0038 a0012c0028t0007g0041 a0017c0052t0003g0040 |
3 | 66 | 0.0455 | -10 | c.874 others(27): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 55/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33590595 | TCACACAC others(3): Show |
T | intron_variant | MODIFIER | HG01074.hp1 NA18998.hp1 NA18998.hp2 |
a0001a0004a0010 | a0001c0042a0004c0034a0010c0056 | a0001c0042t0005a0004c0034t0015a0010c0056t0001 | a0001c0042t0005g0051 a0004c0034t0015g0015 a0010c0056t0001g0047 |
3 | 66 | 0.0455 | -10 | c.685 others(29): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 44/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33645342 | TATACACA others(3): Show |
T | intron_variant | MODIFIER | HG03209.hp1 NA19030.hp2 |
a0002a0016 | a0002c0006a0016c0033 | a0002c0006t0004a0016c0033t0012 | a0002c0006t0004g0052 a0016c0033t0012g0028 |
2 | 66 | 0.0303 | -10 | c.477 others(29): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 29/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33707689 | GCGCGCGC others(3): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG01069.hp2 HG01074.hp2 others(3): Show |
a0002a0003a0005others(3): Show | a0002c0002a0003c0004a0005c0020others(3): Show | a0002c0002t0005a0003c0004t0003a0005c0020t0006others(3): Show | a0002c0002t0005g0036 a0003c0004t0003g0053 a0005c0020t0006g0046 others(3): Show |
6 | 66 | 0.0909 | -10 | c.357 others(29): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 22/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33707691 | GCGCGCAC others(3): Show |
G | intron_variant | MODIFIER | HG02965.hp1 HG02965.hp2 HG03471.hp2 others(1): Show |
a0001a0005a0014others(1): Show | a0001c0045a0005c0012a0014c0036others(1): Show | a0001c0045t0013a0005c0012t0001a0014c0036t0002others(1): Show | a0001c0045t0013g0027 a0005c0012t0001g0003 a0014c0036t0002g0044 others(1): Show |
4 | 66 | 0.0606 | -10 | c.357 others(29): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 22/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33707693 | GCGCACAC others(3): Show |
G | intron_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0016 | 1 | 66 | 0.0152 | -10 | c.357 others(29): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 22/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33707695 | GCACACAC others(3): Show |
G | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0008 | 1 | 66 | 0.0152 | -10 | c.357 others(29): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 22/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33774107 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG02809.hp2 HG03139.hp1 HG03195.hp1 |
a0003a0007 | a0003c0048a0003c0050a0007c0025 | a0003c0048t0006a0003c0050t0004a0007c0025t0001 | a0003c0048t0006g0032 a0003c0050t0004g0037 a0007c0025t0001g0042 |
3 | 66 | 0.0455 | -10 | c.166 others(29): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 12/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33783431 | TTCTCTCT others(3): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG02922.hp2 HG03209.hp2 others(2): Show |
a0003a0004a0005others(2): Show | a0003c0035a0004c0034a0005c0020others(2): Show | a0003c0035t0006a0004c0034t0015a0005c0020t0006others(2): Show | a0003c0035t0006g0006 a0004c0034t0015g0015 a0005c0020t0006g0046 others(2): Show |
5 | 66 | 0.0758 | -10 | c.166 others(29): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 12/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33862343 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG02886.hp1 HG02922.hp1 others(5): Show |
a0001a0002a0004others(5): Show | a0001c0026a0002c0006a0004c0031others(5): Show | a0001c0026t0003a0002c0006t0004a0004c0031t0004others(5): Show | a0001c0026t0003g0035 a0002c0006t0004g0052 a0004c0031t0004g0005 others(5): Show |
8 | 66 | 0.1212 | -10 | c.921 others(29): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 5/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33920542 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02647.hp2 HG02723.hp1 others(11): Show |
a0001a0002a0003others(9): Show | a0001c0045a0002c0002a0002c0043others(11): Show | a0001c0045t0013a0002c0002t0010a0002c0043t0003others(11): Show | a0001c0045t0013g0027 a0002c0002t0010g0016 a0002c0043t0003g0061 others(11): Show |
14 | 66 | 0.2121 | -10 | c.713 others(27): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 4/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33950383 | CAGAGAGA others(3): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG02717.hp1 HG03195.hp1 others(1): Show |
a0002a0004a0005others(1): Show | a0002c0002a0004c0051a0005c0015others(1): Show | a0002c0002t0001a0004c0051t0001a0005c0015t0001others(1): Show | a0002c0002t0001g0013 a0004c0051t0001g0019 a0005c0015t0001g0021 others(1): Show |
4 | 66 | 0.0606 | -10 | c.518 others(29): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 3/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33952675 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG02717.hp1 HG02886.hp1 HG03195.hp1 others(2): Show |
a0004a0005a0007others(1): Show | a0004c0051a0005c0015a0007c0024others(2): Show | a0004c0051t0001a0005c0015t0001a0007c0024t0002others(2): Show | a0004c0051t0001g0019 a0005c0015t0001g0021 a0007c0024t0002g0057 others(2): Show |
5 | 66 | 0.0758 | -10 | c.518 others(29): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 3/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33989013 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG02922.hp1 HG03139.hp1 |
a0001a0003 | a0001c0026a0003c0050 | a0001c0026t0003a0003c0050t0004 | a0001c0026t0003g0035 a0003c0050t0004g0037 |
2 | 66 | 0.0303 | -10 | c.517 others(29): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 3/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 34045038 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00673.hp1 HG01192.hp1 HG02717.hp1 others(5): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0005a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0005t0003others(5): Show | a0001c0001t0001g0033 a0001c0001t0002g0043 a0002c0005t0003g0056 others(5): Show |
8 | 66 | 0.1212 | -10 | c.405 others(29): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 2/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 34111982 | TTCTCTCT others(3): Show |
T | intron_variant | MODIFIER | HG00673.hp1 HG01109.hp2 HG01978.hp1 others(6): Show |
a0001a0005a0006others(4): Show | a0001c0001a0001c0026a0001c0046others(6): Show | a0001c0001t0005a0001c0026t0003a0001c0046t0002others(6): Show | a0001c0001t0005g0055 a0001c0026t0003g0035 a0001c0046t0002g0050 others(6): Show |
9 | 66 | 0.1364 | -10 | c.188 others(29): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 1/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 34125507 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG02922.hp2 | a0030 | a0030c0008 | a0030c0008t0004 | a0030c0008t0004g0001 | 1 | 66 | 0.0152 | -10 | c.188 others(29): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 1/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 34169596 | TGAGAGAG others(3): Show |
T | upstream_gene_variant | MODIFIER | HG02055.hp1 HG03209.hp2 HG03225.hp1 |
a0004a0008a0019 | a0004c0032a0008c0021a0019c0030 | a0004c0032t0001a0008c0021t0004a0019c0030t0003 | a0004c0032t0001g0022 a0008c0021t0004g0023 a0019c0030t0003g0020 |
3 | 66 | 0.0455 | -10 | c.-45 others(21): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 4367 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 34169626 | AGAGAGAG others(3): Show |
A | upstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0045 | a0001c0045t0013 | a0001c0045t0013g0027 | 1 | 66 | 0.0152 | -10 | c.-45 others(21): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 4397 | chr1 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112252679 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG00741.hp2 others(26): Show |
a0001a0002a0006others(4): Show | a0001c0001a0001c0006a0001c0017others(12): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0002g0014 a0001c0001t0002g0022 a0001c0001t0002g0068 others(26): Show |
29 | 80 | 0.3625 | -10 | c.101 others(31): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 63/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112270343 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG03139.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0025 a0001c0001t0004g0002 a0001c0001t0004g0042 |
3 | 80 | 0.0375 | -10 | c.950 others(29): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 59/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112361572 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG01257.hp2 others(3): Show |
a0001a0002a0005others(1): Show | a0001c0006a0001c0015a0002c0011others(3): Show | a0001c0006t0003a0001c0015t0001a0002c0011t0001others(3): Show | a0001c0006t0003g0074 a0001c0015t0001g0026 a0002c0011t0001g0001 others(3): Show |
6 | 80 | 0.0750 | -10 | c.613 others(29): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 38/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112410638 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG02258.hp2 HG02559.hp1 |
a0001a0002 | a0001c0017a0001c0019a0002c0027 | a0001c0017t0003a0001c0019t0005a0002c0027t0003 | a0001c0017t0003g0017 a0001c0019t0005g0065 a0002c0027t0003g0047 |
3 | 80 | 0.0375 | -10 | c.539 others(29): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 32/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112494563 | CTTTCTTT others(3): Show |
C | intron_variant | MODIFIER | NA18990.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0028 | 1 | 80 | 0.0125 | -10 | c.508 others(29): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 30/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112609201 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0010 | 1 | 80 | 0.0125 | -10 | c.371 others(31): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 22/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112668931 | AAAAACAA others(3): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG02970.hp2 |
a0006a0010 | a0006c0008a0010c0025 | a0006c0008t0005a0010c0025t0003 | a0006c0008t0005g0004 a0006c0008t0005g0005 a0010c0025t0003g0052 |
3 | 80 | 0.0375 | -10 | c.267 others(29): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 16/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112700662 | CTCAGGCT others(3): Show |
C | intron_variant | MODIFIER | HG00438.hp1 | a0015 | a0015c0031 | a0015c0031t0002 | a0015c0031t0002g0049 | 1 | 80 | 0.0125 | -10 | c.197 others(31): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 13/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112720305 | TTTTTCTT others(3): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG01109.hp2 HG01169.hp2 others(25): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0007a0001c0017others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0016 a0001c0001t0002g0025 a0001c0001t0004g0015 others(25): Show |
28 | 80 | 0.3500 | -10 | c.197 others(31): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 13/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112752900 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 | 1 | 80 | 0.0125 | -10 | c.197 others(31): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 13/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112759003 | AATTTTAT others(3): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0060 | 1 | 80 | 0.0125 | -10 | c.197 others(31): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 13/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112827164 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG02922.hp1 HG03041.hp2 others(2): Show |
a0001a0002a0005 | a0001c0001a0001c0023a0002c0010others(2): Show | a0001c0001t0004a0001c0023t0001a0002c0010t0002others(2): Show | a0001c0001t0004g0002 a0001c0023t0001g0056 a0002c0010t0002g0070 others(2): Show |
5 | 80 | 0.0625 | -10 | c.185 others(29): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 12/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112829885 | GCACACAC others(3): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00741.hp1 HG01255.hp1 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0017a0002c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0017t0003others(4): Show | a0001c0001t0001g0016 a0001c0001t0001g0046 a0001c0001t0002g0068 others(8): Show |
11 | 80 | 0.1375 | -10 | c.175 others(26): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 11/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112897688 | CTCTCTCT others(3): Show |
C | intron_variant | MODIFIER | HG00673.hp1 NA18990.hp1 NA20300.hp1 others(1): Show |
a0001a0004 | a0001c0006a0001c0016a0001c0023others(1): Show | a0001c0006t0003a0001c0016t0001a0001c0023t0001others(1): Show | a0001c0006t0003g0074 a0001c0016t0001g0073 a0001c0023t0001g0056 others(1): Show |
4 | 80 | 0.0500 | -10 | c.163 others(31): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 10/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112897690 | CTCTCTGT others(3): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00673.hp2 others(27): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0006a0001c0007others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0016 a0001c0001t0002g0025 a0001c0001t0004g0015 others(27): Show |
30 | 80 | 0.3750 | -10 | c.163 others(31): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 10/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112899599 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02559.hp2 HG02717.hp2 others(1): Show |
a0001a0002a0007 | a0001c0006a0002c0003a0002c0027others(1): Show | a0001c0006t0004a0002c0003t0003a0002c0027t0003others(1): Show | a0001c0006t0004g0060 a0002c0003t0003g0062 a0002c0027t0003g0047 others(1): Show |
4 | 80 | 0.0500 | -10 | c.163 others(31): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 10/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 113024310 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG01255.hp2 HG02258.hp2 HG02809.hp2 others(4): Show |
a0001a0002a0003others(2): Show | a0001c0019a0002c0003a0002c0028others(3): Show | a0001c0019t0005a0002c0003t0006a0002c0028t0005others(3): Show | a0001c0019t0005g0065 a0002c0003t0006g0009 a0002c0028t0005g0078 others(4): Show |
7 | 80 | 0.0875 | -10 | c.918 others(27): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 5/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 113112386 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp1 HG01255.hp1 others(1): Show |
a0001a0003 | a0001c0006a0001c0015a0003c0002 | a0001c0006t0003a0001c0015t0001a0003c0002t0001 | a0001c0006t0003g0074 a0001c0015t0001g0026 a0003c0002t0001g0019 others(1): Show |
4 | 80 | 0.0500 | -10 | c.710 others(29): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 4/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 113210003 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG01255.hp1 HG02809.hp1 HG02970.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0002c0003others(2): Show | a0001c0001t0004a0001c0007t0001a0002c0003t0006others(2): Show | a0001c0001t0004g0042 a0001c0007t0001g0043 a0002c0003t0006g0009 others(2): Show |
5 | 80 | 0.0625 | -10 | c.515 others(29): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 3/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 113438504 | CGTGTGTG others(3): Show |
C | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01074.hp1 HG01081.hp2 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0001c0017others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0016 a0001c0001t0002g0014 a0001c0001t0002g0022 others(14): Show |
17 | 80 | 0.2125 | -10 | c.-16 others(21): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 1566 | chr8 | TogoVar | |||||||
CSN2_chr4_69950256_69970728 | 69965408 | CTATATAT others(3): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG01081.hp1 HG01261.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0058 a0001c0001t0002g0010 a0001c0001t0002g0057 |
9 | 448 | 0.0201 | -10 | c.-13 others(25): Show |
CSN2 | ENSG00000135222.7 | transcript | ENST00000353151.4 | protein_coding | 1/7 | chr4 | TogoVar | |||||||
CSN3_chr4_70237597_70256432 | 70242278 | TTTTTATT others(3): Show |
T | upstream_gene_variant | MODIFIER | HG01192.hp1 HG01243.hp2 HG01884.hp2 others(24): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0003 | a0001c0001t0001a0001c0004t0001a0003c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0019 others(7): Show |
27 | 464 | 0.0582 | -10 | c.-39 others(19): Show |
CSN3 | ENSG00000171209.4 | transcript | ENST00000304954.4 | protein_coding | 318 | chr4 | TogoVar | |||||||
CSN3_chr4_70237597_70256432 | 70254285 | AACACACA others(3): Show |
A | downstream_gene_variant | MODIFIER | HG04115.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 464 | 0.0022 | -10 | c.*30 others(21): Show |
CSN3 | ENSG00000171209.4 | transcript | ENST00000304954.4 | protein_coding | 2854 | chr4 | TogoVar | |||||||
CSNK1A1_chr5_149487982_149556439 | 149498598 | AGATTAAA others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00673.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0014others(3): Show | a0001c0001t0003g0130 a0001c0001t0003g0133 a0001c0001t0003g0134 others(35): Show |
38 | 390 | 0.0974 | -10 | c.100 others(29): Show |
CSNK1A1 | ENSG00000113712.19 | transcript | ENST00000377843.8 | protein_coding | 9/9 | chr5 | TogoVar | |||||||
CSNK1A1_chr5_149487982_149556439 | 149531518 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 390 | 0.0026 | -10 | c.231 others(27): Show |
CSNK1A1 | ENSG00000113712.19 | transcript | ENST00000377843.8 | protein_coding | 2/9 | chr5 | TogoVar |