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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLMN_chr14_95176940_95324908 | 95245191 | TATAATAT others(20): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00738.hp1 HG01261.hp2 others(22): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(13): Show | a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0100 others(22): Show |
25 | 261 | 0.0958 | -27 | c.83- others(44): Show |
CLMN | ENSG00000165959.12 | transcript | ENST00000298912.9 | protein_coding | 1/12 | chr14 | TogoVar | |||||||
CLMP_chr11_123064872_123200248 | 123119047 | CTCTCCCT others(20): Show |
C | intron_variant | MODIFIER | HG02451.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0114 a0001c0001t0014g0126 |
2 | 251 | 0.0080 | -27 | c.29- others(44): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
CLN3_chr16_28472279_28497074 | 28495952 | TCTCAGGC others(20): Show |
T | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02486.hp2 HG02572.hp1 others(2): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0006t0001 | a0001c0001t0001g0125 a0001c0001t0001g0213 a0001c0001t0001g0216 others(2): Show |
5 | 358 | 0.0140 | -27 | c.-40 others(38): Show |
CLN3 | ENSG00000188603.22 | transcript | ENST00000636147.2 | protein_coding | 3879 | chr16 | TogoVar | |||||||
CLN3_chr16_28472279_28497074 | 28495974 | GACAGCCT others(20): Show |
G | upstream_gene_variant | MODIFIER | NA18961.hp2 NA18962.hp2 NA18966.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(7): Show |
11 | 358 | 0.0307 | -27 | c.-40 others(38): Show |
CLN3 | ENSG00000188603.22 | transcript | ENST00000636147.2 | protein_coding | 3901 | chr16 | TogoVar | |||||||
CLN3_chr16_28472279_28497074 | 28496076 | TGGGACAG others(20): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(93): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(66): Show |
96 | 342 | 0.2807 | -27 | c.-41 others(38): Show |
CLN3 | ENSG00000188603.22 | transcript | ENST00000636147.2 | protein_coding | 4003 | chr16 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1327748 | CATTCCAC others(20): Show |
C | intron_variant | MODIFIER | HG02922.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 a0001c0001t0001g0265 |
2 | 368 | 0.0054 | -27 | c.108 others(46): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 9/16 | chr5 | TogoVar | |||||||
CLSTN2_chr3_139930185_140582397 | 140556687 | GCCAACTG others(20): Show |
G | intron_variant | MODIFIER | HG03453.hp1 NA19043.hp2 |
a0001a0007 | a0001c0019a0007c0020 | a0001c0019t0021a0007c0020t0034 | a0001c0019t0021g0036 a0007c0020t0034g0102 |
2 | 110 | 0.0182 | -27 | c.182 others(42): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLUAP1_chr16_3496004_3544048 | 3529554 | TATATTAT others(20): Show |
T | intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0148 | 1 | 378 | 0.0026 | -27 | c.929 others(43): Show |
CLUAP1 | ENSG00000103351.13 | transcript | ENST00000576634.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CLUAP1_chr16_3496004_3544048 | 3529657 | ATATTATA others(20): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG02273.hp1 HG02300.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0004a0003c0003t0003 | a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 others(3): Show |
6 | 370 | 0.0162 | -27 | c.929 others(42): Show |
CLUAP1 | ENSG00000103351.13 | transcript | ENST00000576634.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CLUH_chr17_2684387_2716764 | 2691939 | GGCCCCGC others(20): Show |
G | intron_variant | MODIFIER | HG02622.hp2 NA19043.hp2 |
a0001 | a0001c0003a0001c0029 | a0001c0003t0001a0001c0029t0011 | a0001c0003t0001g0121 a0001c0029t0011g0248 |
2 | 413 | 0.0048 | -27 | c.365 others(42): Show |
CLUH | ENSG00000132361.18 | transcript | ENST00000651024.2 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
CLUH_chr17_2684387_2716764 | 2691957 | CCACGCCC others(20): Show |
C | intron_variant | MODIFIER | NA18957.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0114 | 1 | 377 | 0.0027 | -27 | c.365 others(42): Show |
CLUH | ENSG00000132361.18 | transcript | ENST00000651024.2 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
CLUL1_chr18_591988_655182 | 596870 | TCTGCAGG others(20): Show |
T | upstream_gene_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 401 | 0.0025 | -27 | c.-39 others(36): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 117 | chr18 | TogoVar | |||||||
CLUL1_chr18_591988_655182 | 596921 | TCTGCAGG others(20): Show |
T | upstream_gene_variant | MODIFIER | HG01074.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0348 a0001c0001t0001g0383 |
2 | 403 | 0.0050 | -27 | c.-34 others(36): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 66 | chr18 | TogoVar | |||||||
CLUL1_chr18_591988_655182 | 626982 | GGAAGGAA others(20): Show |
G | intron_variant | MODIFIER | HG01952.hp2 NA18959.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 a0001c0001t0001g0305 |
2 | 140 | 0.0143 | -27 | c.424 others(41): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | chr18 | TogoVar | |||||||
CMC2_chr16_80961448_81011885 | 80965193 | AAAAAAAA others(20): Show |
A | downstream_gene_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0002 | a0002c0002t0086 | a0002c0002t0086g0293 | 1 | 339 | 0.0029 | -27 | c.*10 others(40): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1254 | chr16 | TogoVar | |||||||
CMC2_chr16_80961448_81011885 | 80965197 | AAAAACAT others(20): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG02074.hp1 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0065 | a0002c0002t0004g0003 a0002c0002t0004g0053 a0002c0002t0004g0279 others(3): Show |
11 | 339 | 0.0324 | -27 | c.*10 others(40): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1250 | chr16 | TogoVar | |||||||
CMC2_chr16_80961448_81011885 | 80965199 | AAACATAT others(20): Show |
A | downstream_gene_variant | MODIFIER | HG02080.hp1 NA19076.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 a0001c0001t0001g0213 |
2 | 297 | 0.0067 | -27 | c.*10 others(40): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1248 | chr16 | TogoVar | |||||||
CMIP_chr16_81439808_81716762 | 81444758 | GGCGCCCC others(20): Show |
G | upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 266 | 0.0038 | -27 | c.-48 others(36): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 49 | chr16 | TogoVar | |||||||
CMTM7_chr3_32386853_32460528 | 32428237 | CCCCAGGC others(20): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01109.hp2 HG01361.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0031 others(6): Show |
11 | 366 | 0.0301 | -27 | c.160 others(46): Show |
CMTM7 | ENSG00000153551.14 | transcript | ENST00000334983.10 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
CMYA5_chr5_79684836_79805222 | 79742048 | CTCTTCTT others(20): Show |
C | intron_variant | MODIFIER | HG02809.hp2 HG03041.hp2 HG03209.hp1 |
a0022a0068 | a0022c0024a0068c0104 | a0022c0024t0001a0022c0024t0017a0068c0104t0003 | a0022c0024t0001g0181 a0022c0024t0017g0355 a0068c0104t0003g0272 |
3 | 109 | 0.0275 | -27 | c.106 others(48): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87220169 | AACTTAAT others(20): Show |
A | intron_variant | MODIFIER | HG02896.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0149 | 1 | 152 | 0.0066 | -27 | c.577 others(46): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87255995 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 150 | 0.0067 | -27 | c.771 others(46): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNN1_chr19_11533851_11555323 | 11550951 | ACACACAC others(20): Show |
A | downstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0063 | 1 | 390 | 0.0026 | -27 | c.*11 others(38): Show |
CNN1 | ENSG00000130176.8 | transcript | ENST00000252456.7 | protein_coding | 629 | chr19 | TogoVar | |||||||
CNNM2_chr10_102913294_103095222 | 102980122 | GCAGGCTG others(20): Show |
G | intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0024 | 1 | 268 | 0.0037 | -27 | c.162 others(48): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CNOT1_chr16_58514951_58634826 | 58619297 | GCTAAAGA others(20): Show |
G | intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0076 | 1 | 306 | 0.0033 | -27 | c.-17 others(48): Show |
CNOT1 | ENSG00000125107.19 | transcript | ENST00000317147.10 | protein_coding | 1/48 | chr16 | TogoVar | |||||||
CNOT2_chr12_70238433_70359993 | 70279857 | CTTTCTAC others(20): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02922.hp2 HG03139.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0117 a0001c0001t0001g0142 a0001c0001t0001g0150 others(2): Show |
5 | 278 | 0.0180 | -27 | c.48+ others(42): Show |
CNOT2 | ENSG00000111596.14 | transcript | ENST00000229195.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CNOT4_chr7_135356795_135515102 | 135472505 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296 a0001c0001t0001g0297 |
2 | 350 | 0.0057 | -27 | c.-92 others(46): Show |
CNOT4 | ENSG00000080802.21 | transcript | ENST00000541284.6 | protein_coding | 1/11 | chr7 | TogoVar | |||||||
CNOT4_chr7_135356795_135515102 | 135472507 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 334 | 0.0030 | -27 | c.-92 others(46): Show |
CNOT4 | ENSG00000080802.21 | transcript | ENST00000541284.6 | protein_coding | 1/11 | chr7 | TogoVar | |||||||
CNOT4_chr7_135356795_135515102 | 135495687 | AAAAAAAG others(20): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01361.hp2 HG01934.hp2 others(18): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0002c0002t0001a0004c0005t0001 | a0001c0001t0001g0003 a0001c0001t0001g0230 a0001c0001t0001g0234 others(18): Show |
21 | 317 | 0.0662 | -27 | c.-93 others(46): Show |
CNOT4 | ENSG00000080802.21 | transcript | ENST00000541284.6 | protein_coding | 1/11 | chr7 | TogoVar | |||||||
CNOT6_chr5_180489379_180583358 | 180539551 | CTTTTTTT others(20): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(81): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(19): Show | a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0232 others(81): Show |
84 | 94 | 0.8936 | -27 | c.112 others(46): Show |
CNOT6 | ENSG00000113300.13 | transcript | ENST00000261951.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CNTLN_chr9_17130040_17508923 | 17312339 | GTATTTAT others(20): Show |
G | intron_variant | MODIFIER | NA18940.hp1 | a0003 | a0003c0052 | a0003c0052t0002 | a0003c0052t0002g0167 | 1 | 99 | 0.0101 | -27 | c.134 others(46): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 8/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CNTN1_chr12_40687439_41077415 | 41056891 | TATATTTA others(20): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0195 a0001c0002t0001g0196 |
2 | 165 | 0.0121 | -27 | c.298 others(48): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CNTN1_chr12_40687439_41077415 | 41056944 | TAATATTT others(20): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG01123.hp1 HG01175.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0113 a0001c0001t0001g0151 a0001c0001t0001g0206 others(7): Show |
10 | 221 | 0.0452 | -27 | c.298 others(48): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CNTN1_chr12_40687439_41077415 | 41057019 | TGATATTT others(20): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG01167.hp2 HG01169.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0187 a0001c0002t0001g0035 a0001c0002t0001g0195 others(1): Show |
4 | 200 | 0.0200 | -27 | c.298 others(48): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CNTN3_chr3_74257568_74619659 | 74344396 | GGTTTTTT others(20): Show |
G | intron_variant | MODIFIER | HG01255.hp1 HG02109.hp1 HG02451.hp1 others(10): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0014others(6): Show | a0001c0001t0013a0001c0002t0002a0001c0002t0009others(9): Show | a0001c0001t0013g0048 a0001c0002t0002g0067 a0001c0002t0009g0082 others(10): Show |
13 | 64 | 0.2031 | -27 | c.136 others(46): Show |
CNTN3 | ENSG00000113805.9 | transcript | ENST00000263665.7 | protein_coding | 11/22 | chr3 | TogoVar | |||||||
CNTN4_chr3_2093866_3062959 | 2287684 | AGAAGAAG others(20): Show |
A | intron_variant | MODIFIER | HG02523.hp2 HG02622.hp1 HG02886.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0005others(2): Show | a0001c0001t0002g0032 a0001c0002t0001g0030 a0001c0002t0005g0002 others(2): Show |
5 | 115 | 0.0435 | -27 | c.-14 others(48): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTN4_chr3_2093866_3062959 | 2287693 | GGAAGAAG others(20): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG02602.hp1 HG02683.hp2 others(1): Show |
a0001 | a0001c0003a0001c0020 | a0001c0003t0001a0001c0003t0003a0001c0020t0002 | a0001c0003t0001g0094 a0001c0003t0003g0015 a0001c0003t0003g0047 others(1): Show |
4 | 88 | 0.0455 | -27 | c.-14 others(48): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTN4_chr3_2093866_3062959 | 2287711 | GGAAGAAG others(20): Show |
G | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 80 | 0.0125 | -27 | c.-14 others(48): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTN4_chr3_2093866_3062959 | 2705850 | AATATATG others(20): Show |
A | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0022 | 1 | 114 | 0.0088 | -27 | c.56- others(44): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 4/24 | chr3 | TogoVar | |||||||
CNTNAP2_chr7_146111801_148425998 | 146712121 | TGTATACA others(20): Show |
T | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0035 a0001c0004t0003g0036 |
2 | 39 | 0.0513 | -27 | c.98- others(44): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 146712148 | AGTATACA others(20): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 37 | 0.0270 | -27 | c.98- others(44): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 146897045 | GGACAGAA others(20): Show |
G | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG03098.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0007a0001c0002t0001a0001c0004t0003 | a0001c0001t0007g0018 a0001c0002t0001g0021 a0001c0004t0003g0035 others(1): Show |
4 | 40 | 0.1000 | -27 | c.402 others(46): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 3/23 | chr7 | TogoVar | |||||||
CNTNAP2_chr7_146111801_148425998 | 147084347 | ATATGCAT others(20): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02486.hp1 |
a0001a0003 | a0001c0001a0003c0014 | a0001c0001t0007a0003c0014t0021 | a0001c0001t0007g0020 a0003c0014t0021g0022 |
2 | 40 | 0.0500 | -27 | c.551 others(46): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 4/23 | chr7 | TogoVar | |||||||
CNTNAP5_chr2_124020287_124926219 | 124702346 | CTTTTTTT others(20): Show |
C | intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0040 | 1 | 3 | 0.3333 | -27 | c.207 others(48): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124706777 | AAGAAGAA others(20): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0017 | a0001c0001t0005g0041 a0001c0001t0017g0012 |
2 | 62 | 0.0323 | -27 | c.207 others(48): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43691270 | AAAGAAAG others(20): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG01891.hp1 HG02559.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(3): Show |
6 | 254 | 0.0236 | -27 | c.-39 others(46): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43691403 | GGAAGGAA others(20): Show |
G | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 381 | 0.0026 | -27 | c.-39 others(46): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51018906 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0064 | a0001c0064t0011 | a0001c0064t0011g0063 | 1 | 188 | 0.0053 | -27 | c.376 others(46): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
COG6_chr13_39650662_39757628 | 39711508 | TTCTAAGA others(20): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(220): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0006a0001c0011others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 others(211): Show |
223 | 368 | 0.6060 | -27 | c.128 others(46): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL13A1_chr10_69796906_69964144 | 69893036 | GTGCTGCA others(20): Show |
G | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 322 | 0.0031 | -27 | c.604 others(44): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 10/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |