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 | 3576268 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(43): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0002a0001c0003others(42): Show | a0001c0001t0002a0001c0002t0061a0001c0003t0019others(43): Show | a0001c0001t0002g0102 a0001c0002t0061g0069 a0001c0003t0019g0107 others(43): Show |
46 | 78 | 0.5897 | -9 | c.122 others(28): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 9/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3622793 | TCCATCCA others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp1 others(84): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0002a0001c0003others(79): Show | a0001c0001t0002a0001c0001t0038a0001c0002t0026others(83): Show | a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0038g0017 others(84): Show |
87 | 126 | 0.6905 | -9 | c.101 others(28): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 7/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3764735 | CTTTCTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01074.hp2 HG03098.hp2 others(2): Show |
a0001a0003a0027 | a0001c0001a0001c0005a0001c0050others(2): Show | a0001c0001t0038a0001c0005t0006a0001c0050t0052others(2): Show | a0001c0001t0038g0017 a0001c0005t0006g0070 a0001c0050t0052g0120 others(2): Show |
5 | 126 | 0.0397 | -9 | c.819 others(28): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3795379 | CATGTATA others(2): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG03017.hp2 NA19060.hp2 |
a0002a0008a0026 | a0002c0048a0008c0029a0026c0100 | a0002c0048t0011a0008c0029t0013a0026c0100t0016 | a0002c0048t0011g0015 a0008c0029t0013g0054 a0026c0100t0016g0121 |
3 | 126 | 0.0238 | -9 | c.819 others(28): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3919184 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG02280.hp2 HG02559.hp2 others(7): Show |
a0001a0004a0005others(2): Show | a0001c0017a0001c0025a0001c0043others(7): Show | a0001c0017t0005a0001c0025t0003a0001c0043t0031others(7): Show | a0001c0017t0005g0003 a0001c0025t0003g0077 a0001c0043t0031g0044 others(7): Show |
10 | 18 | 0.5556 | -9 | c.818 others(28): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4042815 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02572.hp2 others(3): Show |
a0001a0002a0004others(2): Show | a0001c0046a0002c0060a0002c0084others(3): Show | a0001c0046t0073a0002c0060t0007a0002c0084t0017others(3): Show | a0001c0046t0073g0091 a0002c0060t0007g0094 a0002c0084t0017g0087 others(3): Show |
6 | 28 | 0.2143 | -9 | c.416 others(28): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4057650 | GGTTTTTA others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp2 others(52): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0003a0001c0005others(50): Show | a0001c0001t0002a0001c0001t0038a0001c0003t0008others(51): Show | a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0038g0017 others(52): Show |
55 | 126 | 0.4365 | -9 | c.416 others(28): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4135366 | AGGGGAAA others(2): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00735.hp2 others(68): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0002a0001c0003others(65): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0061others(68): Show | a0001c0001t0002g0125 a0001c0002t0002g0083 a0001c0002t0061g0069 others(68): Show |
71 | 126 | 0.5635 | -9 | c.416 others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4138044 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00735.hp1 HG01884.hp2 others(10): Show |
a0001a0002a0003others(6): Show | a0001c0004a0001c0080a0002c0022others(10): Show | a0001c0004t0020a0001c0080t0041a0002c0022t0035others(10): Show | a0001c0004t0020g0086 a0001c0080t0041g0025 a0002c0022t0035g0048 others(10): Show |
13 | 18 | 0.7222 | -9 | c.416 others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4146594 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01255.hp1 HG02074.hp2 others(11): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0045a0001c0050others(11): Show | a0001c0001t0002a0001c0045t0014a0001c0050t0052others(11): Show | a0001c0001t0002g0125 a0001c0045t0014g0010 a0001c0050t0052g0120 others(11): Show |
14 | 48 | 0.2917 | -9 | c.416 others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4201540 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01123.hp2 HG01934.hp1 HG01934.hp2 others(27): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(26): Show | a0001c0001t0002a0001c0002t0002a0001c0003t0008others(27): Show | a0001c0001t0002g0125 a0001c0002t0002g0083 a0001c0003t0008g0053 others(27): Show |
30 | 34 | 0.8824 | -9 | c.416 others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4668415 | CATTATTA others(2): Show |
C | intron_variant | MODIFIER | HG02129.hp1 HG02572.hp1 |
a0001a0018 | a0001c0103a0018c0042 | a0001c0103t0033a0018c0042t0004 | a0001c0103t0033g0028 a0018c0042t0004g0004 |
2 | 42 | 0.0476 | -9 | c.86- others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4672668 | TGGGAGAA others(2): Show |
T | intron_variant | MODIFIER | HG01071.hp1 HG01261.hp1 HG02074.hp1 others(13): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0007others(13): Show | a0001c0001t0038a0001c0003t0011a0001c0007t0001others(13): Show | a0001c0001t0038g0017 a0001c0003t0011g0026 a0001c0007t0001g0035 others(13): Show |
16 | 126 | 0.1270 | -9 | c.86- others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4795252 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02622.hp1 HG02647.hp2 others(7): Show |
a0001a0002a0023others(2): Show | a0001c0025a0001c0033a0001c0093others(7): Show | a0001c0025t0003a0001c0033t0003a0001c0093t0009others(7): Show | a0001c0025t0003g0077 a0001c0033t0003g0059 a0001c0093t0009g0007 others(7): Show |
10 | 23 | 0.4348 | -9 | c.86- others(28): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4834980 | AGAAAGAA others(2): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG04204.hp1 NA18982.hp1 |
a0003a0013a0034 | a0003c0086a0013c0018a0034c0055 | a0003c0086t0002a0013c0018t0058a0034c0055t0034 | a0003c0086t0002g0118 a0013c0018t0058g0068 a0034c0055t0034g0047 |
3 | 126 | 0.0238 | -9 | c.85+ others(28): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4881451 | CTATCTAT others(2): Show |
C | intron_variant | MODIFIER | HG02074.hp1 HG02129.hp1 NA18979.hp2 |
a0001 | a0001c0079a0001c0080a0001c0103 | a0001c0079t0070a0001c0080t0041a0001c0103t0033 | a0001c0079t0070g0113 a0001c0080t0041g0025 a0001c0103t0033g0028 |
3 | 126 | 0.0238 | -9 | c.85+ others(28): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4921003 | GAAAGAAA others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00438.hp1 others(24): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0002a0001c0001t0038a0001c0002t0002others(24): Show | a0001c0001t0002g0102 a0001c0001t0038g0017 a0001c0002t0002g0083 others(24): Show |
27 | 126 | 0.2143 | -9 | c.85+ others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4955775 | GTTAGGTG others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00438.hp1 others(52): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0003a0001c0005others(49): Show | a0001c0001t0002a0001c0001t0038a0001c0003t0011others(52): Show | a0001c0001t0002g0102 a0001c0001t0038g0017 a0001c0003t0011g0026 others(52): Show |
55 | 126 | 0.4365 | -9 | c.85+ others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33710767 | CATGGAAA others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp1 HG00673.hp2 others(58): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0026a0001c0040others(50): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0033 a0001c0001t0001g0062 a0001c0001t0002g0043 others(58): Show |
61 | 64 | 0.9531 | -9 | c.340 others(28): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 21/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33978110 | ATGAGGAA others(2): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp2 HG02647.hp2 |
a0006a0013a0015 | a0006c0016a0013c0038a0015c0023 | a0006c0016t0004a0013c0038t0002a0015c0023t0003 | a0006c0016t0004g0034 a0013c0038t0002g0007 a0015c0023t0003g0039 |
3 | 64 | 0.0469 | -9 | c.518 others(28): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 3/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 34087612 | TATAATAA others(2): Show |
T | intron_variant | MODIFIER | HG00438.hp1 NA18998.hp1 |
a0001a0028 | a0001c0047a0028c0056 | a0001c0047t0001a0028c0056t0001 | a0001c0047t0001g0031 a0028c0056t0001g0047 |
2 | 17 | 0.1176 | -9 | c.404 others(26): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 2/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 34114294 | TTTGTTGT others(2): Show |
T | intron_variant | MODIFIER | HG02647.hp1 NA19030.hp1 NA20300.hp1 |
a0002a0007a0029 | a0002c0043a0007c0022a0029c0014 | a0002c0043t0003a0007c0022t0001a0029c0014t0002 | a0002c0043t0003g0061 a0007c0022t0001g0060 a0029c0014t0002g0059 |
3 | 45 | 0.0667 | -9 | c.188 others(28): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 1/70 | chr1 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112431075 | TGCCCTCA others(2): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00741.hp2 HG01074.hp2 others(9): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0024a0002c0003others(5): Show | a0001c0001t0002a0001c0001t0004a0001c0024t0002others(6): Show | a0001c0001t0002g0014 a0001c0001t0002g0022 a0001c0001t0002g0025 others(9): Show |
12 | 78 | 0.1538 | -9 | c.539 others(30): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 32/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112440632 | GGTGTTCC others(2): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG03139.hp2 |
a0005a0015 | a0005c0008a0015c0035 | a0005c0008t0005a0015c0035t0001 | a0005c0008t0005g0004 a0005c0008t0005g0005 a0015c0035t0001g0003 |
3 | 78 | 0.0385 | -9 | c.539 others(30): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 32/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112755331 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG01257.hp2 |
a0001a0011 | a0001c0024a0011c0022 | a0001c0024t0002a0011c0022t0001 | a0001c0024t0002g0024 a0011c0022t0001g0013 |
2 | 41 | 0.0488 | -9 | c.197 others(30): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 13/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112903151 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02970.hp1 HG02970.hp2 others(1): Show |
a0001a0002a0014 | a0001c0019a0002c0003a0002c0028others(1): Show | a0001c0019t0005a0002c0003t0006a0002c0028t0005others(1): Show | a0001c0019t0005g0065 a0002c0003t0006g0009 a0002c0028t0005g0078 others(1): Show |
4 | 46 | 0.0870 | -9 | c.163 others(30): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 10/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 113374839 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp2 others(32): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0015a0001c0024others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0046 a0001c0001t0002g0022 a0001c0001t0002g0025 others(32): Show |
35 | 78 | 0.4487 | -9 | c.179 others(28): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 1/70 | chr8 | TogoVar | |||||||
CSN1S1_chr4_69926068_69951574 | 69943163 | ATATTATT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(273): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(64): Show |
276 | 296 | 0.9324 | -9 | c.402 others(24): Show |
CSN1S1 | ENSG00000126545.14 | transcript | ENST00000246891.9 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CSNK1A1_chr5_149487982_149556439 | 149531699 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02486.hp1 HG02896.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0101 a0001c0001t0001g0103 others(3): Show |
6 | 388 | 0.0155 | -9 | c.231 others(26): Show |
CSNK1A1 | ENSG00000113712.19 | transcript | ENST00000377843.8 | protein_coding | 2/9 | chr5 | TogoVar | |||||||
CSNK1A1_chr5_149487982_149556439 | 149534482 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00558.hp2 others(94): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0012a0001c0001t0016others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0017 others(92): Show |
97 | 144 | 0.6736 | -9 | c.231 others(26): Show |
CSNK1A1 | ENSG00000113712.19 | transcript | ENST00000377843.8 | protein_coding | 2/9 | chr5 | TogoVar | |||||||
CSNK2A1_chr20_467498_548790 | 485066 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02647.hp1 HG02895.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0014 | a0001c0001t0002g0035 a0001c0001t0007g0285 a0001c0001t0007g0287 others(3): Show |
6 | 270 | 0.0222 | -9 | c.106 others(26): Show |
CSNK2A1 | ENSG00000101266.19 | transcript | ENST00000217244.9 | protein_coding | 13/13 | chr20 | TogoVar | |||||||
CSNK2A2_chr16_58152907_58203106 | 58182374 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG02602.hp1 HG02615.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0080 a0001c0001t0002g0039 a0001c0001t0002g0281 others(4): Show |
8 | 90 | 0.0889 | -9 | c.369 others(26): Show |
CSNK2A2 | ENSG00000070770.10 | transcript | ENST00000262506.8 | protein_coding | 4/11 | chr16 | TogoVar | |||||||
CSNKA2IP_chr3_88333456_88472594 | 88346001 | AATAATAA others(2): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00438.hp2 others(132): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0002c0002others(11): Show | a0001c0001t0002a0001c0004t0002a0002c0002t0002others(12): Show | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0008 others(128): Show |
135 | 384 | 0.3516 | -9 | c.-27 others(28): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CSRNP3_chr2_165464698_165694407 | 165478030 | GGGAAAGG others(2): Show |
G | intron_variant | MODIFIER | HG01257.hp2 HG01433.hp2 HG01884.hp1 others(6): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0006 | a0001c0001t0004a0001c0001t0010a0001c0001t0011others(3): Show | a0001c0001t0004g0114 a0001c0001t0004g0118 a0001c0001t0004g0119 others(6): Show |
9 | 244 | 0.0369 | -9 | c.-28 others(28): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CSRNP3_chr2_165464698_165694407 | 165480782 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG00741.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0018a0001c0001t0025others(6): Show | a0001c0001t0007g0073 a0001c0001t0018g0079 a0001c0001t0025g0075 others(10): Show |
13 | 165 | 0.0788 | -9 | c.-28 others(30): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CSRP2_chr12_76853709_76884019 | 76862493 | ATTGTGCC others(2): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02559.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0169 a0001c0001t0001g0187 a0001c0001t0001g0255 others(6): Show |
9 | 386 | 0.0233 | -9 | c.281 others(24): Show |
CSRP2 | ENSG00000175183.10 | transcript | ENST00000311083.10 | protein_coding | 3/5 | chr12 | TogoVar | |||||||
CST6_chr11_66007008_66018505 | 66016532 | CCCGGCAC others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00558.hp2 HG00639.hp2 HG00673.hp1 others(85): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0009 others(22): Show |
88 | 412 | 0.2136 | -9 | c.*31 others(20): Show |
CST6 | ENSG00000175315.3 | transcript | ENST00000312134.3 | protein_coding | 3028 | chr11 | TogoVar | |||||||
CST8_chr20_23486117_23501010 | 23490125 | TATATATA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG03209.hp2 HG03453.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0009 | 3 | 438 | 0.0068 | -9 | c.-13 others(20): Show |
CST8 | ENSG00000125815.9 | transcript | ENST00000246012.2 | protein_coding | 991 | chr20 | TogoVar | |||||||
CSTB_chr21_43768950_43781308 | 43776983 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01081.hp2 HG01109.hp1 others(76): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(2): Show |
79 | 172 | 0.4593 | -9 | c.-72 others(18): Show |
CSTB | ENSG00000160213.10 | transcript | ENST00000291568.7 | protein_coding | 676 | chr21 | TogoVar | |||||||
CSTF3_chr11_33079584_33166480 | 33144137 | TTTAGTGG others(2): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(90): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0013 others(85): Show |
93 | 358 | 0.2598 | -9 | c.28- others(24): Show |
CSTF3 | ENSG00000176102.13 | transcript | ENST00000323959.9 | protein_coding | 1/20 | chr11 | TogoVar | |||||||
CSTF3_chr11_33079584_33166480 | 33163925 | ATTTTTTT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01943.hp1 HG02015.hp1 HG02027.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0050 others(7): Show |
10 | 244 | 0.0410 | -9 | c.-26 others(20): Show |
CSTF3 | ENSG00000176102.13 | transcript | ENST00000323959.9 | protein_coding | 2446 | chr11 | TogoVar | |||||||
CT45A3_chrX_135755044_135773191 | 135765188 | TAACAACA others(2): Show |
T | intron_variant | MODIFIER | NA18955.hp1 NA18981.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0042 a0001c0001t0004g0043 |
2 | 158 | 0.0127 | -9 | c.-6- others(22): Show |
CT45A3 | ENSG00000269096.7 | transcript | ENST00000598716.3 | protein_coding | 1/4 | chrX | TogoVar | |||||||
CT45A3_chrX_135755044_135773191 | 135769392 | GAGAAAGA others(2): Show |
G | upstream_gene_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG02615.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(4): Show |
14 | 142 | 0.0986 | -9 | c.-13 others(20): Show |
CT45A3 | ENSG00000269096.7 | transcript | ENST00000598716.3 | protein_coding | 1202 | chrX | TogoVar | |||||||
CT45A5_chrX_135770852_135790503 | 135786654 | GAGAAAGA others(2): Show |
G | upstream_gene_variant | MODIFIER | HG01081.hp2 HG01256.hp2 HG02055.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0030 others(2): Show |
5 | 147 | 0.0340 | -9 | c.-14 others(20): Show |
CT45A5 | ENSG00000228836.9 | transcript | ENST00000698999.1 | protein_coding | 1152 | chrX | TogoVar | |||||||
CT55_chrX_135151540_135176398 | 135166036 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0021 others(7): Show |
22 | 65 | 0.3385 | -9 | c.279 others(26): Show |
CT55 | ENSG00000169551.13 | transcript | ENST00000276241.11 | protein_coding | 2/5 | chrX | TogoVar | |||||||
CTBS_chr1_84544611_84579440 | 84560100 | AGAAAGAA others(2): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG03516.hp2 HG04184.hp2 others(1): Show |
a0002a0006 | a0002c0003a0002c0010a0006c0021 | a0002c0003t0007a0002c0010t0006a0006c0021t0006 | a0002c0003t0007g0010 a0002c0010t0006g0027 a0006c0021t0006g0125 |
4 | 333 | 0.0120 | -9 | c.957 others(26): Show |
CTBS | ENSG00000117151.13 | transcript | ENST00000370630.6 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
CTBS_chr1_84544611_84579440 | 84574315 | CGCAGCGC others(2): Show |
C | disruptive_inframe_deletion | MODERATE | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(104): Show |
a0002a0003a0006others(1): Show | a0002c0003a0002c0005a0002c0010others(5): Show | a0002c0003t0005a0002c0003t0006a0002c0003t0007others(14): Show | a0002c0003t0005g0005 a0002c0003t0005g0022 a0002c0003t0005g0046 others(40): Show |
107 | 330 | 0.3242 | -9 | c.92_ others(15): Show |
p.Leu others(11): Show |
CTBS | ENSG00000117151.13 | transcript | ENST00000370630.6 | protein_coding | 1/7 | 125/6571 | 92/1158 | 31/385 | chr1 | TogoVar | |||
CTBS_chr1_84544611_84579440 | 84574341 | CAGCAGCG others(2): Show |
C | disruptive_inframe_deletion | MODERATE | HG01109.hp1 HG01261.hp1 HG01515.hp1 others(3): Show |
a0002 | a0002c0007 | a0002c0007t0008 | a0002c0007t0008g0011 | 6 | 338 | 0.0178 | -9 | c.66_ others(14): Show |
p.Ala others(11): Show |
CTBS | ENSG00000117151.13 | transcript | ENST00000370630.6 | protein_coding | 1/7 | 99/6571 | 66/1158 | 22/385 | chr1 | TogoVar | |||
CTBS_chr1_84544611_84579440 | 84574515 | GGGGAGGG others(2): Show |
G | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01261.hp1 HG01515.hp1 others(3): Show |
a0002 | a0002c0007 | a0002c0007t0008 | a0002c0007t0008g0011 | 6 | 321 | 0.0187 | -9 | c.-10 others(18): Show |
CTBS | ENSG00000117151.13 | transcript | ENST00000370630.6 | protein_coding | 76 | chr1 | TogoVar | |||||||
CTC1_chr17_8219815_8253056 | 8242531 | GAGAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02818.hp2 others(4): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0005 a0003c0004t0001g0280 |
7 | 289 | 0.0242 | -9 | c.197 others(24): Show |
CTC1 | ENSG00000178971.17 | transcript | ENST00000651323.1 | protein_coding | 2/22 | chr17 | TogoVar |