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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRYBG3_chr3_97817011_97949984 | 97910400 | ACTCTGTG others(11): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02630.hp2 HG02965.hp1 others(1): Show |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0014 a0003c0002t0001g0057 a0003c0002t0001g0068 |
4 | 314 | 0.0127 | -18 | c.800 others(37): Show |
CRYBG3 | ENSG00000080200.10 | transcript | ENST00000389622.7 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20508858 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG02056.hp2 HG02486.hp2 HG02809.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0089 a0001c0001t0001g0173 a0001c0001t0002g0108 others(5): Show |
8 | 248 | 0.0323 | -18 | c.149 others(35): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
CSE1L_chr20_49041312_49101949 | 49084801 | TAGGTTCT others(11): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02145.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0001t0001g0287 others(9): Show |
12 | 384 | 0.0313 | -18 | c.162 others(35): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 15/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CSF1_chr1_109905849_109935992 | 109919959 | TAAATAAA others(11): Show |
T | intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 432 | 0.0023 | -18 | c.397 others(35): Show |
CSF1 | ENSG00000184371.14 | transcript | ENST00000329608.11 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1314745 | CCTGCCCA others(11): Show |
C | downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0005 | a0001c0005t0010 | a0001c0005t0010g0092 | 1 | 157 | 0.0064 | -18 | c.*52 others(29): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 4811 | chrX | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19407905 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | NA18988.hp1 | a0004 | a0004c0009 | a0004c0009t0012 | a0004c0009t0012g0070 | 1 | 102 | 0.0098 | -18 | c.130 others(35): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 8/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19488370 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG02572.hp1 HG02615.hp2 others(3): Show |
a0001a0002a0003 | a0001c0002a0002c0003a0003c0005 | a0001c0002t0025a0002c0003t0003a0002c0003t0004others(2): Show | a0001c0002t0025g0001 a0002c0003t0003g0099 a0002c0003t0004g0006 others(3): Show |
6 | 11 | 0.5455 | -18 | c.634 others(37): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19666791 | GAAAGAAA others(11): Show |
G | intron_variant | MODIFIER | HG01496.hp1 HG02622.hp2 HG03195.hp2 |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0005a0002c0003t0026 | a0001c0001t0001g0160 a0001c0002t0005g0075 a0002c0003t0026g0002 |
3 | 234 | 0.0128 | -18 | c.-39 others(39): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19666793 | AAGAAAGA others(11): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG01070.hp1 HG01071.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(2): Show | a0001c0001t0001g0061 a0001c0001t0001g0110 a0001c0001t0002g0208 others(4): Show |
7 | 198 | 0.0354 | -18 | c.-39 others(39): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19666797 | AAGAAAGA others(11): Show |
A | intron_variant | MODIFIER | NA19056.hp1 | a0002 | a0002c0008 | a0002c0008t0003 | a0002c0008t0003g0156 | 1 | 233 | 0.0043 | -18 | c.-39 others(39): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19666833 | GAAAGAAA others(11): Show |
G | intron_variant | MODIFIER | HG00280.hp1 | a0002 | a0002c0003 | a0002c0003t0028 | a0002c0003t0028g0111 | 1 | 228 | 0.0044 | -18 | c.-39 others(39): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT2_chr10_43133445_43190302 | 43143493 | ATGTGTGT others(11): Show |
A | intron_variant | MODIFIER | NA19055.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0164 | 1 | 77 | 0.0130 | -18 | c.-25 others(37): Show |
CSGALNACT2 | ENSG00000169826.8 | transcript | ENST00000374466.4 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CSGALNACT2_chr10_43133445_43190302 | 43168673 | GACACACA others(11): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG02155.hp1 HG02258.hp2 others(42): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0004a0001c0007t0004 | a0001c0001t0001g0186 a0001c0001t0001g0263 a0001c0001t0001g0264 others(36): Show |
45 | 125 | 0.3600 | -18 | c.125 others(37): Show |
CSGALNACT2 | ENSG00000169826.8 | transcript | ENST00000374466.4 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 2987955 | TACCATGG others(11): Show |
T | intron_variant | MODIFIER | HG01934.hp1 HG02056.hp2 HG02615.hp1 others(6): Show |
a0001a0019a0025others(1): Show | a0001c0002a0001c0003a0001c0026others(6): Show | a0001c0002t0026a0001c0003t0019a0001c0026t0007others(6): Show | a0001c0002t0026g0005 a0001c0003t0019g0107 a0001c0026t0007g0093 others(6): Show |
9 | 126 | 0.0714 | -18 | c.837 others(37): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 54/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3388896 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG02486.hp1 | a0017 | a0017c0101 | a0017c0101t0008 | a0017c0101t0008g0023 | 1 | 11 | 0.0909 | -18 | c.259 others(37): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 17/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3548659 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG02056.hp2 NA18982.hp1 |
a0001a0002a0003 | a0001c0071a0002c0089a0003c0086 | a0001c0071t0067a0002c0089t0001a0003c0086t0002 | a0001c0071t0067g0115 a0002c0089t0001g0037 a0003c0086t0002g0118 |
3 | 54 | 0.0556 | -18 | c.134 others(39): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3592659 | CGTGTGTG others(11): Show |
C | intron_variant | MODIFIER | HG01071.hp1 HG01123.hp1 HG01261.hp2 others(18): Show |
a0001a0002a0006others(8): Show | a0001c0002a0001c0046a0001c0050others(18): Show | a0001c0002t0026a0001c0046t0073a0001c0050t0052others(18): Show | a0001c0002t0026g0005 a0001c0046t0073g0091 a0001c0050t0052g0120 others(18): Show |
21 | 126 | 0.1667 | -18 | c.109 others(37): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 8/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3634692 | GTGTGATT others(11): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02572.hp2 others(7): Show |
a0001a0002a0004others(2): Show | a0001c0019a0001c0033a0001c0045others(7): Show | a0001c0019t0078a0001c0033t0003a0001c0045t0014others(7): Show | a0001c0019t0078g0105 a0001c0033t0003g0059 a0001c0045t0014g0010 others(7): Show |
10 | 126 | 0.0794 | -18 | c.101 others(39): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 7/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3652060 | ACTTACCC others(11): Show |
A | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0040 | a0001c0040t0019 | a0001c0040t0019g0123 | 1 | 126 | 0.0079 | -18 | c.101 others(39): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 7/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3652117 | TACCATCA others(11): Show |
T | intron_variant | MODIFIER | HG01071.hp2 HG01261.hp1 HG02258.hp1 others(5): Show |
a0001a0002a0004 | a0001c0025a0001c0039a0001c0047others(5): Show | a0001c0025t0003a0001c0039t0064a0001c0047t0012others(5): Show | a0001c0025t0003g0077 a0001c0039t0064g0080 a0001c0047t0012g0024 others(5): Show |
8 | 79 | 0.1013 | -18 | c.101 others(39): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 7/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3772378 | TTCATATA others(11): Show |
T | intron_variant | MODIFIER | HG02572.hp1 | a0018 | a0018c0042 | a0018c0042t0004 | a0018c0042t0004g0004 | 1 | 124 | 0.0081 | -18 | c.819 others(37): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3772472 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 NA19240.hp2 |
a0001 | a0001c0045a0001c0046a0001c0114 | a0001c0045t0014a0001c0046t0073a0001c0114t0003 | a0001c0045t0014g0010 a0001c0046t0073g0091 a0001c0114t0003g0119 |
3 | 98 | 0.0306 | -18 | c.819 others(37): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3817252 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0050 | a0001c0050t0052 | a0001c0050t0052g0120 | 1 | 6 | 0.1667 | -18 | c.819 others(37): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4078891 | TAATAAAT others(11): Show |
T | intron_variant | MODIFIER | HG02615.hp2 HG02723.hp1 NA19030.hp1 |
a0001a0021 | a0001c0004a0001c0019a0021c0038 | a0001c0004t0063a0001c0019t0078a0021c0038t0075 | a0001c0004t0063g0095 a0001c0019t0078g0105 a0021c0038t0075g0067 |
3 | 115 | 0.0261 | -18 | c.416 others(37): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4078896 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0004 | a0004c0057 | a0004c0057t0080 | a0004c0057t0080g0075 | 1 | 92 | 0.0109 | -18 | c.416 others(37): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4332552 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp1 others(22): Show |
a0001a0002a0005others(6): Show | a0001c0001a0001c0002a0001c0004others(21): Show | a0001c0001t0038a0001c0002t0002a0001c0004t0020others(22): Show | a0001c0001t0038g0017 a0001c0002t0002g0083 a0001c0004t0020g0086 others(22): Show |
25 | 47 | 0.5319 | -18 | c.415 others(37): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4346877 | TCTGGCTG others(11): Show |
T | intron_variant | MODIFIER | HG02647.hp1 HG02723.hp2 HG03225.hp2 others(3): Show |
a0001a0004a0005others(2): Show | a0001c0025a0001c0068a0004c0058others(3): Show | a0001c0025t0003a0001c0068t0015a0004c0058t0056others(3): Show | a0001c0025t0003g0077 a0001c0068t0015g0049 a0004c0058t0056g0117 others(3): Show |
6 | 126 | 0.0476 | -18 | c.415 others(37): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4484980 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG03139.hp1 |
a0002a0007 | a0002c0074a0007c0083 | a0002c0074t0040a0007c0083t0004 | a0002c0074t0040g0031 a0007c0083t0004g0006 |
2 | 13 | 0.1538 | -18 | c.303 others(37): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4486232 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG02723.hp1 HG02886.hp1 HG03579.hp1 others(1): Show |
a0001a0007a0021 | a0001c0039a0001c0050a0007c0116others(1): Show | a0001c0039t0064a0001c0050t0052a0007c0116t0004others(1): Show | a0001c0039t0064g0080 a0001c0050t0052g0120 a0007c0116t0004g0039 others(1): Show |
4 | 126 | 0.0317 | -18 | c.303 others(37): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4559215 | AGTTGGAT others(11): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG02258.hp1 HG02280.hp1 others(10): Show |
a0001a0002a0004others(7): Show | a0001c0002a0001c0093a0001c0114others(10): Show | a0001c0002t0026a0001c0093t0009a0001c0114t0003others(10): Show | a0001c0002t0026g0005 a0001c0093t0009g0007 a0001c0114t0003g0119 others(10): Show |
13 | 126 | 0.1032 | -18 | c.302 others(37): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4565749 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG02074.hp1 HG02129.hp1 HG04228.hp1 others(2): Show |
a0001 | a0001c0001a0001c0007a0001c0079others(2): Show | a0001c0001t0002a0001c0007t0001a0001c0079t0070others(2): Show | a0001c0001t0002g0125 a0001c0007t0001g0035 a0001c0079t0070g0113 others(2): Show |
5 | 17 | 0.2941 | -18 | c.302 others(37): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4637644 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG02486.hp2 |
a0002a0006 | a0002c0070a0006c0008 | a0002c0070t0046a0006c0008t0082 | a0002c0070t0046g0092 a0006c0008t0082g0126 |
2 | 7 | 0.2857 | -18 | c.86- others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4707886 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG02074.hp2 HG03209.hp2 NA18906.hp1 others(1): Show |
a0001a0002 | a0001c0007a0002c0032a0002c0060others(1): Show | a0001c0007t0001a0002c0032t0053a0002c0060t0007others(1): Show | a0001c0007t0001g0035 a0002c0032t0053g0061 a0002c0060t0007g0094 others(1): Show |
4 | 7 | 0.5714 | -18 | c.86- others(35): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33707691 | GCGCGCAC others(11): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG03209.hp2 HG06807.hp1 |
a0001a0023a0026 | a0001c0001a0023c0030a0026c0052 | a0001c0001t0003a0023c0030t0003a0026c0052t0003 | a0001c0001t0003g0063 a0023c0030t0003g0021 a0026c0052t0003g0040 |
3 | 57 | 0.0526 | -18 | c.357 others(37): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 22/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33952686 | ACACACAC others(11): Show |
A | intron_variant | MODIFIER | HG01109.hp1 | a0012 | a0012c0019 | a0012c0019t0011 | a0012c0019t0011g0017 | 1 | 64 | 0.0156 | -18 | c.518 others(37): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 3/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33989013 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0044 | a0001c0044t0002 | a0001c0044t0002g0026 | 1 | 6 | 0.1667 | -18 | c.517 others(37): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 3/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 34027840 | CTGGGCAG others(11): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00673.hp1 others(50): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0026a0001c0040others(43): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0033 a0001c0001t0001g0062 a0001c0001t0002g0043 others(50): Show |
53 | 64 | 0.8281 | -18 | c.517 others(35): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 3/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 34169618 | AGAGAGAG others(11): Show |
A | upstream_gene_variant | MODIFIER | HG02080.hp1 | a0004 | a0004c0049 | a0004c0049t0009 | a0004c0049t0009g0013 | 1 | 64 | 0.0156 | -18 | c.-45 others(29): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 4389 | chr1 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112270343 | AGTGTGTG others(11): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG03041.hp1 |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0005c0008t0005 | a0001c0001t0001g0016 a0005c0008t0005g0004 a0005c0008t0005g0005 |
3 | 19 | 0.1579 | -18 | c.950 others(37): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 59/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112279013 | AAACAACA others(11): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp2 HG02559.hp2 others(7): Show |
a0001a0002a0006others(4): Show | a0001c0023a0002c0003a0002c0032others(6): Show | a0001c0023t0001a0002c0003t0002a0002c0032t0001others(6): Show | a0001c0023t0001g0055 a0002c0003t0002g0051 a0002c0032t0001g0079 others(7): Show |
10 | 43 | 0.2326 | -18 | c.950 others(37): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 59/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112361572 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02895.hp2 others(5): Show |
a0001a0002a0012others(1): Show | a0001c0001a0001c0021a0002c0003others(2): Show | a0001c0001t0004a0001c0021t0004a0002c0003t0006others(2): Show | a0001c0001t0004g0007 a0001c0001t0004g0042 a0001c0001t0004g0058 others(5): Show |
8 | 20 | 0.4000 | -18 | c.613 others(37): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 38/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112370023 | GGAAGAAG others(11): Show |
G | intron_variant | MODIFIER | HG01169.hp1 HG04115.hp1 |
a0003 | a0003c0002a0003c0020 | a0003c0002t0001a0003c0020t0001 | a0003c0002t0001g0021 a0003c0020t0001g0080 |
2 | 12 | 0.1667 | -18 | c.613 others(39): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 38/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112609201 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0016 | a0016c0014 | a0016c0014t0005 | a0016c0014t0005g0040 | 1 | 7 | 0.1429 | -18 | c.371 others(39): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 22/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112827160 | CATAAATA others(11): Show |
C | intron_variant | MODIFIER | HG01169.hp1 HG03225.hp2 |
a0003a0006 | a0003c0002a0006c0009 | a0003c0002t0001a0006c0009t0001 | a0003c0002t0001g0021 a0006c0009t0001g0069 |
2 | 54 | 0.0370 | -18 | c.185 others(37): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 12/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112827164 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG01109.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0002 | a0001c0001t0002a0001c0001t0004a0002c0003t0002others(1): Show | a0001c0001t0002g0067 a0001c0001t0004g0007 a0001c0001t0004g0058 others(6): Show |
9 | 17 | 0.5294 | -18 | c.185 others(37): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 12/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 113112386 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG01081.hp2 NA19030.hp1 |
a0001 | a0001c0001a0001c0024 | a0001c0001t0004a0001c0024t0002 | a0001c0001t0004g0015 a0001c0024t0002g0024 |
2 | 9 | 0.2222 | -18 | c.710 others(37): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 4/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 113440982 | CACACACA others(11): Show |
C | upstream_gene_variant | MODIFIER | HG01109.hp2 | a0004 | a0004c0004 | a0004c0004t0009 | a0004c0004t0009g0032 | 1 | 78 | 0.0128 | -18 | c.-41 others(29): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 4044 | chr8 | TogoVar | |||||||
CSN1S1_chr4_69926068_69951574 | 69943163 | ATATTATT others(11): Show |
A | intron_variant | MODIFIER | HG02818.hp1 HG02965.hp2 HG03225.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017 a0002c0002t0001g0053 |
4 | 24 | 0.1667 | -18 | c.402 others(33): Show |
CSN1S1 | ENSG00000126545.14 | transcript | ENST00000246891.9 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CSNK1A1_chr5_149487982_149556439 | 149499950 | GTTTTTTT others(11): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01496.hp2 HG01981.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0021 | a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0064 others(6): Show |
9 | 296 | 0.0304 | -18 | c.100 others(37): Show |
CSNK1A1 | ENSG00000113712.19 | transcript | ENST00000377843.8 | protein_coding | 9/9 | chr5 | TogoVar | |||||||
CSNK1A1_chr5_149487982_149556439 | 149542622 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0143 | 1 | 370 | 0.0027 | -18 | c.230 others(35): Show |
CSNK1A1 | ENSG00000113712.19 | transcript | ENST00000377843.8 | protein_coding | 2/9 | chr5 | TogoVar |