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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLEC5A_chr7_141922357_141951974 | 141951163 | A | AACAGGGA others(20): Show |
upstream_gene_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 384 | 0.0026 | 27 | c.-43 others(38): Show |
CLEC5A | ENSG00000258227.7 | transcript | ENST00000546910.6 | protein_coding | 4190 | chr7 | TogoVar | |||||||
CLIC4_chr1_24740447_24849321 | 24744702 | A | ATATATAT others(20): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0095 | 1 | 255 | 0.0039 | 27 | c.-85 others(36): Show |
CLIC4 | ENSG00000169504.15 | transcript | ENST00000374379.9 | protein_coding | 744 | chr1 | TogoVar | |||||||
CLIC5_chr6_45893456_46020860 | 46016213 | A | AGGGGAAA others(20): Show |
upstream_gene_variant | MODIFIER | NA18998.hp1 | a0007 | a0007c0003 | a0007c0003t0002 | a0007c0003t0002g0006 | 1 | 338 | 0.0030 | 27 | c.-67 others(36): Show |
CLIC5 | ENSG00000112782.19 | transcript | ENST00000339561.12 | protein_coding | 354 | chr6 | TogoVar | |||||||
CLIP2_chr7_74284407_74410935 | 74390162 | G | GAAAAAGA others(20): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 146 | 0.0068 | 27 | c.272 others(44): Show |
CLIP2 | ENSG00000106665.16 | transcript | ENST00000223398.11 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CLN8_chr8_1758789_1791570 | 1763610 | C | CCCCCGCC others(20): Show |
upstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0002 | 1 | 405 | 0.0025 | 27 | c.-39 others(36): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 178 | chr8 | TogoVar | |||||||
CLNK_chr4_10481395_10689768 | 10535260 | A | AAAGAAAG others(20): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0159 | 1 | 318 | 0.0031 | 27 | c.603 others(44): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 11/18 | chr4 | TogoVar | |||||||
CLNK_chr4_10481395_10689768 | 10535264 | A | AAAGAAAG others(20): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0157 | 1 | 313 | 0.0032 | 27 | c.603 others(44): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 11/18 | chr4 | TogoVar | |||||||
CLNK_chr4_10481395_10689768 | 10537702 | C | CCTTTCTT others(20): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0176 | 1 | 250 | 0.0040 | 27 | c.602 others(44): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 11/18 | chr4 | TogoVar | |||||||
CLNK_chr4_10481395_10689768 | 10537706 | C | CCTTCTTT others(20): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0264 | 1 | 15 | 0.0667 | 27 | c.602 others(44): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 11/18 | chr4 | TogoVar | |||||||
CLPSL2_chr6_35771598_35784552 | 35780370 | G | GGCTGGAG others(20): Show |
downstream_gene_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 458 | 0.0022 | 27 | c.*92 others(36): Show |
CLPSL2 | ENSG00000196748.10 | transcript | ENST00000403376.4 | protein_coding | 819 | chr6 | TogoVar | |||||||
CLUAP1_chr16_3496004_3544048 | 3529475 | T | TTATATAT others(20): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 376 | 0.0027 | 27 | c.929 others(44): Show |
CLUAP1 | ENSG00000103351.13 | transcript | ENST00000576634.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CLUL1_chr18_591988_655182 | 596819 | T | TCTGCAGG others(20): Show |
upstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 393 | 0.0025 | 27 | c.-44 others(36): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 168 | chr18 | TogoVar | |||||||
CLUL1_chr18_591988_655182 | 596972 | T | TCTGCAGG others(20): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0125 | 1 | 408 | 0.0025 | 27 | c.-29 others(36): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 15 | chr18 | TogoVar | |||||||
CLUL1_chr18_591988_655182 | 627013 | A | AAGAGAAG others(20): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 347 | 0.0029 | 27 | c.424 others(40): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99794581 | T | TTTATTAT others(20): Show |
intron_variant | MODIFIER | HG03098.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 a0001c0001t0001g0113 |
2 | 36 | 0.0556 | 27 | c.249 others(46): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80965245 | G | GTTTTTTT others(20): Show |
downstream_gene_variant | MODIFIER | HG03834.hp2 NA18970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0238 |
2 | 74 | 0.0270 | 27 | c.*10 others(40): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1202 | chr16 | TogoVar | |||||||
CMIP_chr16_81439808_81716762 | 81520569 | G | GAGAGAGA others(20): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 81 | 0.0123 | 27 | c.300 others(46): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | chr16 | TogoVar | |||||||
CMTM8_chr3_32233680_32375321 | 32259372 | G | GGACAATG others(20): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 342 | 0.0029 | 27 | c.147 others(46): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32319074 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01175.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0264 a0001c0001t0002g0265 |
2 | 60 | 0.0333 | 27 | c.148 others(46): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32319074 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00642.hp2 HG02135.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0060 others(2): Show |
5 | 63 | 0.0794 | 27 | c.148 others(46): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32319074 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | NA18984.hp1 NA19083.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0117 |
2 | 60 | 0.0333 | 27 | c.148 others(46): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMYA5_chr5_79684836_79805222 | 79688942 | C | CAAAAAAA others(20): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 | a0012 | a0012c0015 | a0012c0015t0004 | a0012c0015t0004g0028 | 1 | 42 | 0.0238 | 27 | c.-96 others(36): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 893 | chr5 | TogoVar | |||||||
CNBD1_chr8_86861415_87387859 | 87129069 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01167.hp2 HG03195.hp1 NA18522.hp2 others(1): Show |
a0002a0003 | a0002c0005a0003c0003 | a0002c0005t0001a0003c0003t0002 | a0002c0005t0001g0082 a0002c0005t0001g0084 a0002c0005t0001g0086 others(1): Show |
4 | 6 | 0.6667 | 27 | c.432 others(46): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNGA3_chr2_98341456_98403601 | 98367167 | G | GTTTATTT others(20): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0070 | 1 | 307 | 0.0033 | 27 | c.-37 others(44): Show |
CNGA3 | ENSG00000144191.12 | transcript | ENST00000272602.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57879787 | T | TTCCTTTC others(20): Show |
downstream_gene_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0282 | 1 | 168 | 0.0060 | 27 | c.*43 others(38): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2552 | chr16 | TogoVar | |||||||
CNGB1_chr16_57877340_57976128 | 57879801 | T | TTCCTTCC others(20): Show |
downstream_gene_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0121 | 1 | 352 | 0.0028 | 27 | c.*43 others(38): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2538 | chr16 | TogoVar | |||||||
CNIH3_chr1_224611317_224745554 | 224742807 | A | ATCCAGAC others(20): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 356 | 0.0028 | 27 | c.*34 others(38): Show |
CNIH3 | ENSG00000143786.8 | transcript | ENST00000272133.4 | protein_coding | 2254 | chr1 | TogoVar | |||||||
CNKSR2_chrX_21369418_21659689 | 21473745 | G | GTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03098.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0009a0001c0001t0034 | a0001c0001t0006g0158 a0001c0001t0009g0009 a0001c0001t0034g0008 |
3 | 109 | 0.0275 | 27 | c.561 others(44): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CNKSR3_chr6_154382515_154515685 | 154415228 | A | ATTTTTTT others(20): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02083.hp2 HG02280.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0078a0001c0001t0085others(2): Show | a0001c0001t0004g0181 a0001c0001t0004g0192 a0001c0001t0004g0313 others(4): Show |
7 | 75 | 0.0933 | 27 | c.946 others(42): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 9/12 | chr6 | TogoVar | |||||||
CNNM2_chr10_102913294_103095222 | 102976611 | A | ATTTTTTT others(20): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0239 | 1 | 35 | 0.0286 | 27 | c.162 others(48): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CNOT10_chr3_32680188_32778875 | 32754489 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02135.hp1 NA19067.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 a0001c0001t0001g0127 |
2 | 74 | 0.0270 | 27 | c.159 others(46): Show |
CNOT10 | ENSG00000182973.20 | transcript | ENST00000328834.10 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNOT10_chr3_32680188_32778875 | 32754489 | A | AAAAATAT others(20): Show |
intron_variant | MODIFIER | HG02083.hp1 NA19074.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0179 a0001c0003t0001g0134 |
2 | 74 | 0.0270 | 27 | c.159 others(46): Show |
CNOT10 | ENSG00000182973.20 | transcript | ENST00000328834.10 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNOT2_chr12_70238433_70359993 | 70346979 | T | TAGAGAAT others(20): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG01069.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0003g0248 others(32): Show |
36 | 278 | 0.1295 | 27 | c.153 others(44): Show |
CNOT2 | ENSG00000111596.14 | transcript | ENST00000229195.8 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CNOT3_chr19_54132762_54160681 | 54133749 | T | TCTCTCCA others(20): Show |
upstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0030 | 1 | 216 | 0.0046 | 27 | c.-42 others(38): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 4012 | chr19 | TogoVar | |||||||
CNOT3_chr19_54132762_54160681 | 54133853 | T | TCTCTCTC others(20): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 221 | 0.0045 | 27 | c.-41 others(38): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3908 | chr19 | TogoVar | |||||||
CNOT3_chr19_54132762_54160681 | 54133990 | T | TCCCTCTC others(20): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG02273.hp1 HG02809.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0016 others(2): Show |
5 | 220 | 0.0227 | 27 | c.-40 others(38): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3771 | chr19 | TogoVar | |||||||
CNOT3_chr19_54132762_54160681 | 54134282 | C | CCTCCCTC others(20): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 2 | 222 | 0.0090 | 27 | c.-37 others(38): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3479 | chr19 | TogoVar | |||||||
CNOT6L_chr4_77708387_77824368 | 77807276 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0090 | 1 | 73 | 0.0137 | 27 | c.5+1 others(42): Show |
CNOT6L | ENSG00000138767.14 | transcript | ENST00000504123.7 | protein_coding | 1/11 | chr4 | TogoVar | |||||||
CNPPD1_chr2_219166897_219181925 | 219176324 | G | GGGGAACA others(20): Show |
stop_gained others(1): Show |
HIGH | NA19086.hp1 | a0012 | a0012c0017 | a0012c0017t0007 | a0012c0017t0007g0033 | 1 | 430 | 0.0023 | 27 | c.76_ others(32): Show |
p.Leu others(38): Show |
CNPPD1 | ENSG00000115649.16 | transcript | ENST00000360507.10 | protein_coding | 2/8 | 173/2019 | 76/1233 | 26/410 | chr2 | TogoVar | |||
CNPY1_chr7_155496129_155551559 | 155527055 | T | TTTCTTTC others(20): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0170 | 1 | 414 | 0.0024 | 27 | c.100 others(46): Show |
CNPY1 | ENSG00000146910.14 | transcript | ENST00000636446.2 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
CNR2_chr1_23865515_23918362 | 23869244 | A | AAGGAAGG others(20): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0212 | 1 | 52 | 0.0192 | 27 | c.*52 others(38): Show |
CNR2 | ENSG00000188822.8 | transcript | ENST00000374472.5 | protein_coding | 1270 | chr1 | TogoVar | |||||||
CNR2_chr1_23865515_23918362 | 23899908 | A | AAAGAAAA others(20): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0218 | 1 | 223 | 0.0045 | 27 | c.-46 others(46): Show |
CNR2 | ENSG00000188822.8 | transcript | ENST00000374472.5 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
CNRIP1_chr2_68288010_68324949 | 68306124 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 60 | 0.0167 | 27 | c.330 others(46): Show |
CNRIP1 | ENSG00000119865.9 | transcript | ENST00000263655.4 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
CNST_chr1_246561456_246673595 | 246612686 | A | AGACCAGT others(20): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0305 | 1 | 318 | 0.0031 | 27 | c.380 others(44): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNTLN_chr9_17130040_17508923 | 17202646 | G | GTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02155.hp1 HG02976.hp1 NA18986.hp1 |
a0003a0006 | a0003c0002a0006c0043 | a0003c0002t0001a0003c0002t0016a0006c0043t0002 | a0003c0002t0001g0061 a0003c0002t0016g0070 a0006c0043t0002g0081 |
3 | 79 | 0.0380 | 27 | c.450 others(46): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CNTLN_chr9_17130040_17508923 | 17359725 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0059 | 1 | 57 | 0.0175 | 27 | c.188 others(46): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 12/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CNTN1_chr12_40687439_41077415 | 40813038 | C | CTTTCTTT others(20): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG00733.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0087 a0001c0001t0002g0157 a0001c0001t0003g0084 others(16): Show |
19 | 69 | 0.2754 | 27 | c.-76 others(46): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 1/23 | chr12 | TogoVar | |||||||
CNTN1_chr12_40687439_41077415 | 40831081 | A | ATATACTA others(20): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02572.hp2 HG02895.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0001t0007a0001c0003t0016others(1): Show | a0001c0001t0002g0059 a0001c0001t0007g0058 a0001c0003t0016g0226 others(2): Show |
5 | 230 | 0.0217 | 27 | c.-76 others(46): 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(20): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG01981.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0109 a0001c0002t0001g0013 a0001c0002t0001g0121 others(2): Show |
5 | 30 | 0.1667 | 27 | c.-76 others(46): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CNTN1_chr12_40687439_41077415 | 41056891 | T | TATATTTA others(20): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01496.hp2 HG02004.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0104 a0001c0001t0001g0208 a0001c0002t0001g0143 others(2): Show |
5 | 168 | 0.0298 | 27 | c.298 others(48): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |