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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNBD1_chr8_86861415_87387859 | 87256003 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 145 | 0.0069 | -21 | c.771 others(40): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNDP2_chr18_74491363_74528454 | 74516972 | ACAGACGC others(14): Show |
A | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 421 | 0.0024 | -21 | c.106 others(38): Show |
CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CNDP2_chr18_74491363_74528454 | 74516981 | GTAGCTTA others(14): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(225): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0001c0009others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(148): Show |
228 | 422 | 0.5403 | -21 | c.106 others(38): Show |
CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CNKSR2_chrX_21369418_21659689 | 21374594 | GGCAGCAG others(14): Show |
G | 5_prime_UTR_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0136 | 1 | 113 | 0.0088 | -21 | c.-28 others(30): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 1/22 | 266 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CNNM4_chr2_96755902_96816874 | 96765024 | GTTTTTTT others(14): Show |
G | intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 10 | 0.1000 | -21 | c.140 others(40): Show |
CNNM4 | ENSG00000158158.12 | transcript | ENST00000377075.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNOT3_chr19_54132762_54160681 | 54134157 | TCTCCACC others(14): Show |
T | upstream_gene_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 220 | 0.0045 | -21 | c.-38 others(32): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3604 | chr19 | TogoVar | |||||||
CNOT4_chr7_135356795_135515102 | 135472503 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0349 | 1 | 355 | 0.0028 | -21 | c.-92 others(40): Show |
CNOT4 | ENSG00000080802.21 | transcript | ENST00000541284.6 | protein_coding | 1/11 | chr7 | TogoVar | |||||||
CNOT4_chr7_135356795_135515102 | 135472509 | AAAAAAAT others(14): Show |
A | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 329 | 0.0030 | -21 | c.-92 others(40): Show |
CNOT4 | ENSG00000080802.21 | transcript | ENST00000541284.6 | protein_coding | 1/11 | chr7 | TogoVar | |||||||
CNOT4_chr7_135356795_135515102 | 135495685 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG02109.hp2 HG02809.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0256 a0001c0001t0001g0269 a0001c0001t0001g0278 others(3): Show |
6 | 352 | 0.0170 | -21 | c.-93 others(40): Show |
CNOT4 | ENSG00000080802.21 | transcript | ENST00000541284.6 | protein_coding | 1/11 | chr7 | TogoVar | |||||||
CNOT6L_chr4_77708387_77824368 | 77714438 | TAAAAAAA others(14): Show |
T | 3_prime_UTR_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 23 | 0.0435 | -21 | c.*59 others(32): Show |
CNOT6L | ENSG00000138767.14 | transcript | ENST00000504123.7 | protein_coding | 12/12 | 5972 | chr4 | TogoVar | ||||||
CNOT6_chr5_180489379_180583358 | 180539551 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0193 | 1 | 11 | 0.0909 | -21 | c.112 others(40): Show |
CNOT6 | ENSG00000113300.13 | transcript | ENST00000261951.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CNTLN_chr9_17130040_17508923 | 17294892 | TGGGGAGT others(14): Show |
T | intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0008 | 1 | 212 | 0.0047 | -21 | c.984 others(38): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 6/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CNTN1_chr12_40687439_41077415 | 40795299 | ACACACAC others(14): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(68): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0100 others(68): Show |
71 | 229 | 0.3100 | -21 | c.-77 others(42): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 1/23 | chr12 | TogoVar | |||||||
CNTN3_chr3_74257568_74619659 | 74344397 | GTTTTTTT others(14): Show |
G | intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0096 | 1 | 123 | 0.0081 | -21 | c.136 others(40): Show |
CNTN3 | ENSG00000113805.9 | transcript | ENST00000263665.7 | protein_coding | 11/22 | chr3 | TogoVar | |||||||
CNTN4_chr3_2093866_3062959 | 2287672 | AGAAGAAG others(14): Show |
A | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG01361.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0005a0001c0002t0001a0001c0002t0004others(2): Show | a0001c0001t0005g0019 a0001c0001t0005g0020 a0001c0002t0001g0022 others(3): Show |
6 | 112 | 0.0536 | -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 | 2287690 | AGAGGAAG others(14): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG02647.hp2 NA18990.hp1 |
a0001 | a0001c0001a0001c0003a0001c0010 | a0001c0001t0003a0001c0003t0001a0001c0010t0003 | a0001c0001t0003g0101 a0001c0003t0001g0116 a0001c0010t0003g0011 |
3 | 113 | 0.0265 | -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 | 2287693 | GGAAGAAG others(14): Show |
G | intron_variant | MODIFIER | HG01169.hp2 HG04184.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0049 a0001c0003t0003g0074 |
2 | 86 | 0.0233 | -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 | 2747417 | AATAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02615.hp2 HG02622.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(5): Show | a0001c0001t0001g0059 a0001c0001t0003g0101 a0001c0001t0008g0043 others(5): Show |
8 | 116 | 0.0690 | -21 | c.358 others(38): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTN4_chr3_2093866_3062959 | 2886888 | TATGATTA others(14): Show |
T | intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 116 | 0.0086 | -21 | c.756 others(36): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 9/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTN5_chr11_99015949_100363885 | 100153870 | CATATAAG others(14): Show |
C | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0049 | 1 | 66 | 0.0152 | -21 | c.158 others(42): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 13/24 | chr11 | TogoVar | |||||||
CNTN6_chr3_1088024_1409217 | 1245274 | TACACACA others(14): Show |
T | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG02738.hp2 others(2): Show |
a0001 | a0001c0003a0001c0007 | a0001c0003t0001a0001c0007t0001a0001c0007t0006 | a0001c0003t0001g0027 a0001c0007t0001g0019 a0001c0007t0001g0020 others(2): Show |
5 | 229 | 0.0218 | -21 | c.358 others(40): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 146483283 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0009 | a0001c0009t0019 | a0001c0009t0019g0027 | 1 | 30 | 0.0333 | -21 | c.98- others(40): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | chr7 | TogoVar | |||||||
CNTNAP2_chr7_146111801_148425998 | 146721436 | TCTATATA others(14): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG02897.hp1 NA19030.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0011others(1): Show | a0001c0001t0001g0038 a0001c0002t0001g0008 a0001c0003t0011g0023 others(1): Show |
4 | 40 | 0.1000 | -21 | c.98- others(38): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | chr7 | TogoVar | |||||||
CNTNAP2_chr7_146111801_148425998 | 147489376 | TGTCGTTT others(14): Show |
T | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0012 | a0001c0012t0004 | a0001c0012t0004g0026 | 1 | 40 | 0.0250 | -21 | c.177 others(40): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 11/23 | chr7 | TogoVar | |||||||
CNTNAP2_chr7_146111801_148425998 | 147629406 | AAATAATA others(14): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0001 | 1 | 6 | 0.1667 | -21 | c.189 others(40): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148328492 | TTCCATCT others(14): Show |
T | intron_variant | MODIFIER | HG02976.hp2 HG03098.hp1 HG03239.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0018a0001c0002t0002others(3): Show | a0001c0001t0001g0003 a0001c0001t0018g0001 a0001c0002t0002g0040 others(3): Show |
6 | 40 | 0.1500 | -21 | c.347 others(42): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | chr7 | TogoVar | |||||||
CNTNAP2_chr7_146111801_148425998 | 148413402 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0010 | 1 | 25 | 0.0400 | -21 | c.379 others(40): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 23/23 | chr7 | TogoVar | |||||||
CNTNAP3B_chr9_41885536_42134426 | 42134355 | AGAAAGAA others(14): Show |
A | upstream_gene_variant | MODIFIER | HG03704.hp1 | a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0030 | 1 | 106 | 0.0094 | -21 | c.-52 others(32): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 4930 | chr9 | TogoVar | |||||||
CNTNAP4_chr16_76272401_76565757 | 76543166 | CAACTGAC others(14): Show |
C | intron_variant | MODIFIER | HG02698.hp2 HG03491.hp2 HG03710.hp1 others(3): Show |
a0002a0008a0010 | a0002c0005a0008c0017a0010c0016 | a0002c0005t0002a0008c0017t0002a0010c0016t0002 | a0002c0005t0002g0070 a0002c0005t0002g0194 a0002c0005t0002g0257 others(3): Show |
6 | 272 | 0.0221 | -21 | c.344 others(40): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124449054 | GAAATCGG others(14): Show |
G | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0057 | 1 | 62 | 0.0161 | -21 | c.918 others(38): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124702346 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02723.hp1 HG02723.hp2 |
a0001a0002 | a0001c0002a0002c0008 | a0001c0002t0003a0001c0002t0006a0002c0008t0001 | a0001c0002t0003g0056 a0001c0002t0006g0009 a0002c0008t0001g0039 |
3 | 5 | 0.6000 | -21 | c.207 others(42): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124707140 | GGAAGAAG others(14): Show |
G | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0028 | 1 | 22 | 0.0455 | -21 | c.207 others(42): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45486289 | TCGGGAGA others(14): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(51): Show |
a0001a0002 | a0001c0002a0001c0014a0002c0003others(3): Show | a0001c0002t0001a0001c0014t0004a0002c0003t0002others(6): Show | a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 others(49): Show |
54 | 296 | 0.1824 | -21 | c.844 others(36): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL13A1_chr10_69796906_69964144 | 69936157 | GAAGGAAG others(14): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(49): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(14): Show | a0001c0001t0001g0014 a0001c0001t0001g0044 a0001c0001t0001g0060 others(49): Show |
52 | 322 | 0.1615 | -21 | c.177 others(38): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 32/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL13A1_chr10_69796906_69964144 | 69937286 | GCCTCAGG others(14): Show |
G | intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0032 | 1 | 322 | 0.0031 | -21 | c.179 others(38): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 33/40 | chr10 | TogoVar | |||||||
COL16A1_chr1_31647263_31709017 | 31663615 | GGGACTGA others(14): Show |
G | intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0203 | 1 | 340 | 0.0029 | -21 | c.355 others(38): Show |
COL16A1 | ENSG00000084636.18 | transcript | ENST00000373672.8 | protein_coding | 56/70 | chr1 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45493078 | GGCAGCTG others(14): Show |
G | intron_variant | MODIFIER | HG02257.hp2 | a0011 | a0011c0049 | a0011c0049t0001 | a0011c0049t0001g0198 | 1 | 290 | 0.0034 | -21 | c.221 others(36): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 24/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45494817 | GGGCCAGG others(14): Show |
G | intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0086 | 1 | 290 | 0.0034 | -21 | c.238 others(36): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 27/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL1A1_chr17_50179101_50206631 | 50199698 | AGCCCCAG others(14): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(228): Show |
a0001a0004a0006others(5): Show | a0001c0001a0001c0003a0001c0007others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(114): Show |
231 | 239 | 0.9665 | -21 | c.298 others(34): Show |
COL1A1 | ENSG00000108821.14 | transcript | ENST00000225964.10 | protein_coding | 2/50 | chr17 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108990230 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00735.hp2 HG01167.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0099 a0001c0001t0003g0015 a0001c0001t0004g0007 others(2): Show |
5 | 129 | 0.0388 | -21 | c.439 others(40): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 6/37 | chr4 | TogoVar | |||||||
COL26A1_chr7_101357875_101564024 | 101361770 | AGAAAAAG others(14): Show |
A | upstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0130 | 1 | 169 | 0.0059 | -21 | c.-12 others(32): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1104 | chr7 | TogoVar | |||||||
COL26A1_chr7_101357875_101564024 | 101366474 | ATTTTTTT others(14): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0001 | 1 | 117 | 0.0085 | -21 | c.158 others(38): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101366497 | TTTTTTTT others(14): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG01109.hp1 HG01243.hp2 others(17): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0003others(2): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(10): Show | a0001c0001t0002g0114 a0001c0001t0002g0153 a0001c0001t0008g0126 others(17): Show |
20 | 172 | 0.1163 | -21 | c.158 others(38): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | chr7 | TogoVar | |||||||
COL26A1_chr7_101357875_101564024 | 101534768 | GTGTGGCT others(14): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG02647.hp2 |
a0001a0002 | a0001c0014a0002c0006 | a0001c0014t0009a0002c0006t0004 | a0001c0014t0009g0116 a0002c0006t0004g0043 |
2 | 172 | 0.0116 | -21 | c.447 others(38): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL27A1_chr9_114150537_114317511 | 114183114 | TGGGGTTG others(14): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 |
a0001 | a0001c0017a0001c0134 | a0001c0017t0006a0001c0134t0003 | a0001c0017t0006g0205 a0001c0134t0003g0069 |
2 | 306 | 0.0065 | -21 | c.201 others(36): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 5/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110145808 | CACAAGTG others(14): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(176): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0006others(61): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(70): Show | a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0028 others(175): Show |
179 | 342 | 0.5234 | -21 | c.*45 others(32): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 3154 | chr13 | TogoVar | |||||||
COL4A3_chr2_227159624_227319792 | 227193753 | GAAGGAAG others(14): Show |
G | intron_variant | MODIFIER | NA18981.hp2 | a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0270 | 1 | 341 | 0.0029 | -21 | c.87+ others(38): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227291572 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG01256.hp1 HG01884.hp2 NA18950.hp2 |
a0003a0009a0012 | a0003c0040a0009c0008a0012c0017 | a0003c0040t0014a0009c0008t0022a0012c0017t0001 | a0003c0040t0014g0038 a0009c0008t0022g0322 a0012c0017t0001g0166 |
3 | 316 | 0.0095 | -21 | c.321 others(38): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 37/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227023503 | CTTTCACA others(14): Show |
C | intron_variant | MODIFIER | HG02922.hp1 HG03130.hp1 HG03139.hp1 others(2): Show |
a0002a0004a0008 | a0002c0002a0002c0019a0004c0004others(1): Show | a0002c0002t0011a0002c0019t0005a0004c0004t0020others(1): Show | a0002c0002t0011g0226 a0002c0019t0005g0029 a0002c0019t0005g0167 others(2): Show |
5 | 282 | 0.0177 | -21 | c.409 others(40): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 43/47 | chr2 | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134679745 | AGGGGCAC others(14): Show |
A | intron_variant | MODIFIER | HG02965.hp2 HG03041.hp2 |
a0001 | a0001c0003a0001c0024 | a0001c0003t0004a0001c0024t0001 | a0001c0003t0004g0262 a0001c0024t0001g0207 |
2 | 254 | 0.0079 | -21 | c.110 others(40): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |