regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CSMD1_chr8_2930361_4999914 | 3564642 | TTAGTTCT others(2): Show |
T | intron_variant | MODIFIER | HG01071.hp2 HG01081.hp2 HG01123.hp1 others(44): Show |
a0001a0002a0003others(13): Show | a0001c0002a0001c0003a0001c0004others(42): Show | a0001c0002t0028a0001c0003t0008a0001c0003t0019others(44): Show | a0001c0002t0028g0005a0001c0003t0008g0053a0001c0003t0019g0107others(44): Show | 47 | 126 | 0.3730 | -9 | c.134 others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | ||||||
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 | a0001c0001t0002g0102a0001c0002t0061g0069a0001c0003t0019g0107others(43): Show | 46 | 126 | 0.3651 | -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 | a0001c0001t0002a0001c0001t0039a0001c0002t0028others(83): Show | a0001c0001t0002g0102a0001c0001t0002g0125a0001c0001t0039g0017others(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 |
a0001a0004a0011 | a0001c0001a0001c0005a0001c0050others(2): Show | a0001c0001t0039a0001c0005t0007a0001c0050t0053others(2): Show | a0001c0001t0039g0017a0001c0005t0007g0070a0001c0050t0053g0120others(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 |
a0002a0007a0036 | a0002c0048a0007c0029a0036c0100 | a0002c0048t0013a0007c0029t0011a0036c0100t0017 | a0002c0048t0013g0015a0007c0029t0011g0054a0036c0100t0017g0121 | 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 |
a0001a0003a0005others(2): Show | a0001c0017a0001c0025a0001c0043others(7): Show | a0001c0017t0005a0001c0025t0003a0001c0043t0031others(7): Show | a0001c0017t0005g0003a0001c0025t0003g0077a0001c0043t0031g0044others(7): Show | 10 | 126 | 0.0794 | -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 |
a0001a0002a0003others(2): Show | a0001c0046a0002c0060a0002c0084others(3): Show | a0001c0046t0073a0002c0060t0006a0002c0084t0018others(3): Show | a0001c0046t0073g0091a0002c0060t0006g0094a0002c0084t0018g0087others(3): Show | 6 | 126 | 0.0476 | -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 | a0001c0001t0002a0001c0001t0039a0001c0003t0008others(51): Show | a0001c0001t0002g0102a0001c0001t0002g0125a0001c0001t0039g0017others(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 | a0001c0001t0002g0125a0001c0002t0002g0083a0001c0002t0061g0069others(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 |
a0001a0002a0004others(6): Show | a0001c0004a0001c0080a0002c0022others(10): Show | a0001c0004t0020a0001c0080t0040a0002c0022t0036others(10): Show | a0001c0004t0020g0086a0001c0080t0040g0025a0002c0022t0036g0048others(10): Show | 13 | 126 | 0.1032 | -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 | a0001c0001t0002a0001c0045t0012a0001c0050t0053others(11): Show | a0001c0001t0002g0125a0001c0045t0012g0010a0001c0050t0053g0120others(11): Show | 14 | 126 | 0.1111 | -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 |
a0001a0002a0004others(8): Show | a0001c0001a0001c0002a0001c0003others(26): Show | a0001c0001t0002a0001c0002t0002a0001c0003t0008others(27): Show | a0001c0001t0002g0125a0001c0002t0002g0083a0001c0003t0008g0053others(27): Show | 30 | 126 | 0.2381 | -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 |
a0001a0033 | a0001c0103a0033c0042 | a0001c0103t0033a0033c0042t0004 | a0001c0103t0033g0028a0033c0042t0004g0004 | 2 | 126 | 0.0159 | -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 | a0001c0001t0039a0001c0003t0013a0001c0007t0001others(13): Show | a0001c0001t0039g0017a0001c0003t0013g0026a0001c0007t0001g0035others(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 |
a0001a0002a0009others(2): Show | a0001c0025a0001c0033a0001c0093others(7): Show | a0001c0025t0003a0001c0033t0003a0001c0093t0009others(7): Show | a0001c0025t0003g0077a0001c0033t0003g0059a0001c0093t0009g0007others(7): Show | 10 | 126 | 0.0794 | -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 |
a0004a0019a0034 | a0004c0086a0019c0018a0034c0055 | a0004c0086t0002a0019c0018t0058a0034c0055t0034 | a0004c0086t0002g0118a0019c0018t0058g0068a0034c0055t0034g0047 | 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 | a0001c0079t0072a0001c0080t0040a0001c0103t0033 | a0001c0079t0072g0113a0001c0080t0040g0025a0001c0103t0033g0028 | 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 |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0002a0001c0001t0039a0001c0002t0002others(24): Show | a0001c0001t0002g0102a0001c0001t0039g0017a0001c0002t0002g0083others(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 | a0001c0001t0002a0001c0001t0039a0001c0003t0013others(52): Show | a0001c0001t0002g0102a0001c0001t0039g0017a0001c0003t0013g0026others(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(59): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0026a0001c0040others(50): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(57): Show | a0001c0001t0001g0033a0001c0001t0001g0062a0001c0001t0002g0043others(59): Show | 62 | 66 | 0.9394 | -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 |
a0006a0021a0026 | a0006c0016a0021c0038a0026c0023 | a0006c0016t0004a0021c0038t0002a0026c0023t0003 | a0006c0016t0004g0034a0021c0038t0002g0007a0026c0023t0003g0039 | 3 | 66 | 0.0455 | -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 |
a0001a0010 | a0001c0047a0010c0056 | a0001c0047t0001a0010c0056t0001 | a0001c0047t0001g0031a0010c0056t0001g0047 | 2 | 66 | 0.0303 | -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 |
a0002a0008a0024 | a0002c0043a0008c0022a0024c0014 | a0002c0043t0003a0008c0022t0001a0024c0014t0002 | a0002c0043t0003g0061a0008c0022t0001g0060a0024c0014t0002g0059 | 3 | 66 | 0.0455 | -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 | a0001c0001t0002g0014a0001c0001t0002g0022a0001c0001t0002g0025others(9): Show | 12 | 80 | 0.1500 | -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 |
a0006a0011 | a0006c0008a0011c0035 | a0006c0008t0005a0011c0035t0001 | a0006c0008t0005g0004a0006c0008t0005g0005a0011c0035t0001g0003 | 3 | 80 | 0.0375 | -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 |
a0001a0012 | a0001c0024a0012c0022 | a0001c0024t0002a0012c0022t0001 | a0001c0024t0002g0024a0012c0022t0001g0013 | 2 | 80 | 0.0250 | -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 |
a0001a0002a0010 | a0001c0019a0002c0003a0002c0028others(1): Show | a0001c0019t0005a0002c0003t0006a0002c0028t0005others(1): Show | a0001c0019t0005g0065a0002c0003t0006g0009a0002c0028t0005g0078others(1): Show | 4 | 80 | 0.0500 | -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(33): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0015a0001c0024others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0046a0001c0001t0002g0022a0001c0001t0002g0025others(33): Show | 36 | 80 | 0.4500 | -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(274): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0005a0001c0006others(13): Show | a0001c0001t0001a0001c0005t0002a0001c0006t0001others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(76): Show | 277 | 448 | 0.6183 | -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 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0019a0001c0001t0001g0101a0001c0001t0001g0102others(3): Show | 6 | 390 | 0.0154 | -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(95): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0012a0001c0001t0017others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0013a0001c0001t0001g0014others(94): Show | 98 | 390 | 0.2513 | -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 | a0001c0001t0002g0034a0001c0001t0007g0286a0001c0001t0007g0288others(3): Show | 6 | 316 | 0.0190 | -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 | a0001c0001t0001g0074a0001c0001t0002g0298a0001c0001t0002g0304others(5): Show | 8 | 400 | 0.0200 | -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(133): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0002c0002others(11): Show | a0001c0001t0002a0001c0004t0002a0002c0002t0002others(12): Show | a0001c0001t0002g0001a0001c0001t0002g0251a0001c0001t0002g0252others(131): Show | 136 | 386 | 0.3523 | -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 |
a0001a0008 | a0001c0001a0001c0002a0008c0006 | a0001c0001t0002a0001c0001t0011a0001c0001t0013others(3): Show | a0001c0001t0002g0113a0001c0001t0002g0117a0001c0001t0002g0118others(6): Show | 9 | 246 | 0.0366 | -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 | a0001c0001t0009a0001c0001t0022a0001c0001t0028others(7): Show | a0001c0001t0009g0072a0001c0001t0022g0078a0001c0001t0028g0074others(10): Show | 13 | 246 | 0.0529 | -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 | a0001c0001t0001g0169a0001c0001t0001g0189a0001c0001t0001g0266others(6): Show | 9 | 388 | 0.0232 | -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 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(20): Show | 88 | 414 | 0.2126 | -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 | 440 | 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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(2): Show | 79 | 452 | 0.1748 | -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 | a0001c0001t0002g0005a0001c0001t0002g0012a0001c0001t0002g0013others(85): Show | 93 | 360 | 0.2583 | -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 | a0001c0001t0002g0036a0001c0001t0002g0048a0001c0001t0002g0051others(7): Show | 10 | 360 | 0.0278 | -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 | a0001c0001t0001g0042a0001c0001t0004g0043 | 2 | 160 | 0.0125 | -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 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(4): Show | 14 | 160 | 0.0875 | -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 | a0001c0001t0003a0001c0001t0005a0001c0001t0010others(1): Show | a0001c0001t0003g0003a0001c0001t0003g0031a0001c0001t0005g0014others(2): Show | 5 | 177 | 0.0283 | -9 | c.-14 others(20): Show |
CT45A5 | ENSG00000228836.9 | transcript | ENST00000698999.1 | protein_coding | 1152 | chrX | TogoVar | ||||||
CT47A3_chrX_120967746_120981068 | 120971565 | GGTCTCGA others(2): Show |
G | downstream_gene_variant | MODIFIER | HG02818.hp2 | a0000 | a0000c0015 | a0000c0015t0007 | a0000c0015t0007g0033 | 1 | 201 | 0.0050 | -9 | c.*13 others(20): Show |
CT47A3 | ENSG00000236126.3 | transcript | ENST00000441330.3 | protein_coding | 1180 | chrX | TogoVar | ||||||
CT47A4_chrX_120962886_120976208 | 120963638 | CAAAATAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0008 | 1 | 164 | 0.0061 | -9 | c.*44 others(20): Show |
CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 4247 | chrX | TogoVar | ||||||
CT47A4_chrX_120962886_120976208 | 120963649 | AATAAATA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 164 | 0.0061 | -9 | c.*44 others(20): Show |
CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 4236 | chrX | TogoVar | ||||||
CT47A6_chrX_120953165_120966487 | 120961102 | TGCTGTCG others(2): Show |
T | conservative_inframe_deletion | MODERATE | HG03139.hp1 | a0010 | a0010c0008 | a0010c0008t0005 | a0010c0008t0005g0014 | 1 | 110 | 0.0091 | -9 | c.118 others(16): Show |
p.Pro others(11): Show |
CT47A6 | ENSG00000226023.6 | transcript | ENST00000419194.3 | protein_coding | 1/3 | 385/1298 | 118/867 | 40/288 | 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 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0020others(7): Show | 22 | 270 | 0.0815 | -9 | c.279 others(26): Show |
CT55 | ENSG00000169551.13 | transcript | ENST00000276241.11 | protein_coding | 2/5 | chrX | TogoVar |