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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNBP_chr3_129162827_129188896 | 129181649 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02896.hp2 HG03486.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0009a0001c0002t0015 | a0001c0002t0009g0359a0001c0002t0009g0360a0001c0002t0009g0362others(1): Show | 4 | 430 | 0.0093 | 21 | c.-15 others(38): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
CNDP2_chr18_74491363_74528454 | 74516972 | A | ACAGACGC others(14): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0193 | 1 | 424 | 0.0024 | 21 | c.106 others(38): Show |
CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CNGA1_chr4_47930977_48021681 | 47980892 | A | AATCTCTT others(14): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(203): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(188): Show | 206 | 366 | 0.5628 | 21 | c.-15 others(36): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 3/10 | chr4 | TogoVar | ||||||
CNGA1_chr4_47930977_48021681 | 47980905 | C | CACTTATT others(14): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204a0001c0001t0001g0205a0001c0001t0001g0206others(1): Show | 4 | 366 | 0.0109 | 21 | c.-15 others(36): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 3/10 | chr4 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57879787 | T | TTCTTTTT others(14): Show |
downstream_gene_variant | MODIFIER | HG04228.hp1 NA18939.hp1 NA19065.hp2 |
a0001 | a0001c0001a0001c0004a0001c0017 | a0001c0001t0001a0001c0004t0001a0001c0017t0001 | a0001c0001t0001g0235a0001c0004t0001g0166a0001c0017t0001g0114 | 3 | 360 | 0.0083 | 21 | c.*43 others(32): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2552 | chr16 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57879823 | T | TCCTTCCT others(14): Show |
downstream_gene_variant | MODIFIER | HG01074.hp1 HG01074.hp2 HG01123.hp1 others(3): Show |
a0001a0003a0007others(1): Show | a0001c0002a0001c0004a0003c0012others(2): Show | a0001c0002t0007a0001c0004t0014a0003c0012t0007others(2): Show | a0001c0002t0007g0126a0001c0004t0014g0192a0003c0012t0007g0048others(3): Show | 6 | 360 | 0.0167 | 21 | c.*43 others(32): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2516 | chr16 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57879827 | T | TCCTTCCT others(14): Show |
downstream_gene_variant | MODIFIER | NA19090.hp2 | a0007 | a0007c0020 | a0007c0020t0009 | a0007c0020t0009g0018 | 1 | 360 | 0.0028 | 21 | c.*43 others(32): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2512 | chr16 | TogoVar | ||||||
CNKSR2_chrX_21369418_21659689 | 21374630 | A | AGCCGCAG others(14): Show |
5_prime_UTR_variant | MODIFIER | HG02615.hp1 HG02965.hp1 HG03471.hp1 |
a0001 | a0001c0003 | a0001c0003t0014a0001c0003t0026 | a0001c0003t0014g0147a0001c0003t0014g0149a0001c0003t0026g0148 | 3 | 163 | 0.0184 | 21 | c.-26 others(30): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 1/22 | 262 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
CNKSR2_chrX_21369418_21659689 | 21473745 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02976.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010a0001c0001t0040 | a0001c0001t0006g0160a0001c0001t0006g0161a0001c0001t0010g0162others(1): Show | 4 | 163 | 0.0245 | 21 | c.561 others(38): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CNKSR3_chr6_154382515_154515685 | 154382571 | A | AAGGGAGG others(14): Show |
downstream_gene_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0111 | a0001c0001t0111g0315 | 1 | 342 | 0.0029 | 21 | c.*23 others(34): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 4943 | chr6 | TogoVar | ||||||
CNKSR3_chr6_154382515_154515685 | 154415228 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01109.hp1 HG01884.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0012a0001c0001t0085others(12): Show | a0001c0001t0002g0078a0001c0001t0002g0131a0001c0001t0002g0206others(20): Show | 23 | 342 | 0.0673 | 21 | c.946 others(36): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 9/12 | chr6 | TogoVar | ||||||
CNN1_chr19_11533851_11555323 | 11543463 | T | TATAATAA others(14): Show |
intron_variant | MODIFIER | HG02148.hp1 HG03017.hp1 NA18960.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0003 | a0001c0001t0002g0089a0001c0001t0002g0092a0001c0003t0003g0029 | 4 | 392 | 0.0102 | 21 | c.185 others(38): Show |
CNN1 | ENSG00000130176.8 | transcript | ENST00000252456.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CNNM2_chr10_102913294_103095222 | 102976611 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | NA18950.hp2 NA19011.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0009 | a0001c0002t0003g0237a0001c0002t0009g0246 | 2 | 270 | 0.0074 | 21 | c.162 others(42): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CNNM2_chr10_102913294_103095222 | 103034972 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02135.hp1 NA18995.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0009 | a0001c0002t0003g0251a0001c0002t0009g0226 | 2 | 270 | 0.0074 | 21 | c.162 others(42): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CNNM2_chr10_102913294_103095222 | 103087140 | A | ATTTTTTT others(14): Show |
3_prime_UTR_variant | MODIFIER | HG03490.hp2 | a0002 | a0002c0004 | a0002c0004t0060 | a0002c0004t0060g0197 | 1 | 270 | 0.0037 | 21 | c.*99 others(32): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 8/8 | 9993 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
CNOT10_chr3_32680188_32778875 | 32741768 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 354 | 0.0028 | 21 | c.159 others(40): Show |
CNOT10 | ENSG00000182973.20 | transcript | ENST00000328834.10 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNOT10_chr3_32680188_32778875 | 32754489 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 354 | 0.0028 | 21 | c.159 others(40): Show |
CNOT10 | ENSG00000182973.20 | transcript | ENST00000328834.10 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNOT3_chr19_54132762_54160681 | 54134157 | T | TCTCCACC others(14): Show |
upstream_gene_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 223 | 0.0045 | 21 | c.-38 others(32): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3604 | chr19 | TogoVar | ||||||
CNOT6L_chr4_77708387_77824368 | 77753194 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0308 | 1 | 328 | 0.0031 | 21 | c.490 others(38): Show |
CNOT6L | ENSG00000138767.14 | transcript | ENST00000504123.7 | protein_coding | 5/11 | chr4 | TogoVar | ||||||
CNOT6L_chr4_77708387_77824368 | 77760860 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0147 | 1 | 328 | 0.0031 | 21 | c.401 others(38): Show |
CNOT6L | ENSG00000138767.14 | transcript | ENST00000504123.7 | protein_coding | 4/11 | chr4 | TogoVar | ||||||
CNOT6L_chr4_77708387_77824368 | 77819074 | A | ACACACAC others(14): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 328 | 0.0031 | 21 | c.5+2 others(32): Show |
CNOT6L | ENSG00000138767.14 | transcript | ENST00000504123.7 | protein_coding | 1/11 | chr4 | TogoVar | ||||||
CNOT7_chr8_17219966_17251857 | 17226029 | C | CTTTTTTT others(14): Show |
3_prime_UTR_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0185 | 1 | 408 | 0.0025 | 21 | c.*46 others(32): Show |
CNOT7 | ENSG00000198791.12 | transcript | ENST00000361272.9 | protein_coding | 7/7 | 4690 | chr8 | TogoVar | |||||
CNPY1_chr7_155496129_155551559 | 155507471 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0002 | a0001c0002t0049 | a0001c0002t0049g0406 | 1 | 426 | 0.0024 | 21 | c.304 others(36): Show |
CNPY1 | ENSG00000146910.14 | transcript | ENST00000636446.2 | protein_coding | 3/4 | chr7 | TogoVar | ||||||
CNPY1_chr7_155496129_155551559 | 155527054 | C | CTTTCTTT others(14): Show |
intron_variant | MODIFIER | NA18950.hp1 NA18997.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0312a0001c0002t0003g0373 | 2 | 426 | 0.0047 | 21 | c.100 others(40): Show |
CNPY1 | ENSG00000146910.14 | transcript | ENST00000636446.2 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
CNPY1_chr7_155496129_155551559 | 155527054 | C | CTTTCTTT others(14): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0003 | a0001c0003t0022 | a0001c0003t0022g0088 | 1 | 426 | 0.0024 | 21 | c.100 others(40): Show |
CNPY1 | ENSG00000146910.14 | transcript | ENST00000636446.2 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
CNRIP1_chr2_68288010_68324949 | 68306124 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02273.hp1 NA19043.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0360a0001c0003t0001g0262 | 2 | 424 | 0.0047 | 21 | c.330 others(40): Show |
CNRIP1 | ENSG00000119865.9 | transcript | ENST00000263655.4 | protein_coding | 2/2 | chr2 | TogoVar | ||||||
CNTLN_chr9_17130040_17508923 | 17294892 | T | TGGGGAGT others(14): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02896.hp2 HG02897.hp1 |
a0011 | a0011c0015 | a0011c0015t0002 | a0011c0015t0002g0213a0011c0015t0002g0214a0011c0015t0002g0215 | 3 | 218 | 0.0138 | 21 | c.984 others(38): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 6/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CNTLN_chr9_17130040_17508923 | 17312342 | T | TTTATATA others(14): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0002 | a0002c0008 | a0002c0008t0009 | a0002c0008t0009g0034 | 1 | 218 | 0.0046 | 21 | c.134 others(40): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 8/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CNTLN_chr9_17130040_17508923 | 17312364 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0027 | a0027c0051 | a0027c0051t0013 | a0027c0051t0013g0047 | 1 | 218 | 0.0046 | 21 | c.134 others(40): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 8/25 | chr9 | TogoVar | ||||||
CNTLN_chr9_17130040_17508923 | 17359725 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01071.hp2 HG03130.hp1 HG06807.hp2 others(1): Show |
a0001a0009 | a0001c0001a0009c0010 | a0001c0001t0001a0001c0001t0002a0009c0010t0002 | a0001c0001t0001g0172a0001c0001t0001g0193a0001c0001t0002g0141others(1): Show | 4 | 218 | 0.0184 | 21 | c.188 others(40): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 12/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CNTLN_chr9_17130040_17508923 | 17440588 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0006 | a0006c0007 | a0006c0007t0006 | a0006c0007t0006g0080 | 1 | 218 | 0.0046 | 21 | c.311 others(42): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CNTN1_chr12_40687439_41077415 | 40698256 | T | TTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0060 | 1 | 230 | 0.0044 | 21 | c.-77 others(38): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 1/23 | chr12 | TogoVar | ||||||
CNTN1_chr12_40687439_41077415 | 40759774 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059 | 1 | 230 | 0.0044 | 21 | c.-77 others(40): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CNTN1_chr12_40687439_41077415 | 40822148 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0194 | 1 | 230 | 0.0044 | 21 | c.-76 others(40): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CNTN1_chr12_40687439_41077415 | 40844069 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0053 | 1 | 230 | 0.0044 | 21 | c.-76 others(40): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CNTN3_chr3_74257568_74619659 | 74558982 | C | CAATAATA others(14): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02895.hp2 NA19091.hp2 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0002a0002c0005t0023 | a0001c0001t0001g0141a0001c0001t0002g0083a0002c0005t0023g0032 | 3 | 174 | 0.0172 | 21 | c.-80 others(40): Show |
CNTN3 | ENSG00000113805.9 | transcript | ENST00000263665.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
CNTN4_chr3_2093866_3062959 | 2294288 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0007 | a0007c0018 | a0007c0018t0003 | a0007c0018t0003g0062 | 1 | 116 | 0.0086 | 21 | c.-14 others(42): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTN4_chr3_2093866_3062959 | 2521343 | T | TCCCCCCC others(14): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008 | 1 | 116 | 0.0086 | 21 | c.-88 others(40): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTN4_chr3_2093866_3062959 | 2617419 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02622.hp2 |
a0001a0003 | a0001c0002a0003c0008 | a0001c0002t0001a0003c0008t0001 | a0001c0002t0001g0110a0003c0008t0001g0084 | 2 | 116 | 0.0172 | 21 | c.55+ others(38): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTN4_chr3_2093866_3062959 | 2834898 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02572.hp1 |
a0001 | a0001c0002a0001c0020 | a0001c0002t0001a0001c0020t0002 | a0001c0002t0001g0110a0001c0020t0002g0082 | 2 | 116 | 0.0172 | 21 | c.454 others(40): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTN4_chr3_2093866_3062959 | 2969516 | G | GATTATTA others(14): Show |
intron_variant | MODIFIER | HG02165.hp2 HG02886.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0011 | a0001c0001t0002g0030a0001c0003t0011g0113 | 2 | 116 | 0.0172 | 21 | c.135 others(42): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTN5_chr11_99015949_100363885 | 99358255 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02976.hp1 |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0007 | a0003c0003t0002g0027a0003c0003t0007g0034 | 2 | 66 | 0.0303 | 21 | c.-71 others(40): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CNTN5_chr11_99015949_100363885 | 100072990 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0014 | 1 | 66 | 0.0152 | 21 | c.143 others(40): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 12/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CNTN6_chr3_1088024_1409217 | 1119353 | G | GTGTGTGT others(14): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02523.hp1 NA18949.hp2 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0152a0001c0002t0001g0139a0001c0003t0001g0172 | 3 | 232 | 0.0129 | 21 | c.-83 others(40): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
CNTN6_chr3_1088024_1409217 | 1280459 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02056.hp2 HG02257.hp2 |
a0001 | a0001c0001a0001c0005a0001c0021 | a0001c0001t0001a0001c0005t0001a0001c0021t0001 | a0001c0001t0001g0071a0001c0005t0001g0188a0001c0021t0001g0231 | 3 | 232 | 0.0129 | 21 | c.454 others(38): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 146426185 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0020 | 1 | 40 | 0.0250 | 21 | c.97+ others(40): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147268208 | A | ATTTAAAT others(14): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG02922.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0003t0011a0001c0004t0005others(1): Show | a0001c0002t0001g0007a0001c0003t0011g0023a0001c0004t0005g0004others(1): Show | 4 | 40 | 0.1000 | 21 | c.134 others(42): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147469506 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 | 1 | 40 | 0.0250 | 21 | c.167 others(42): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147560168 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0006 | a0001c0006t0009 | a0001c0006t0009g0028 | 1 | 40 | 0.0250 | 21 | c.177 others(40): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147919459 | C | CTTTCTTT others(14): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02897.hp1 HG03098.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0022 | a0001c0002t0001g0008a0001c0002t0001g0021a0001c0005t0022g0032 | 3 | 40 | 0.0750 | 21 | c.225 others(42): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |