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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNRIP1_chr2_68288010_68324949 | 68305274 | ATGTGTGT others(15): Show |
A | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 424 | 0.0024 | -22 | c.331 others(41): Show |
CNRIP1 | ENSG00000119865.9 | transcript | ENST00000263655.4 | protein_coding | 2/2 | chr2 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613577 | AGGGTACT others(15): Show |
A | intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 320 | 0.0031 | -22 | c.380 others(39): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246658721 | ACTGATGC others(15): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00738.hp2 HG01069.hp2 others(52): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0170a0001c0001t0001g0304a0001c0001t0002g0183others(51): Show | 55 | 320 | 0.1719 | -22 | c.183 others(41): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNTFR_chr9_34546433_34594724 | 34563301 | GTGCTGGG others(15): Show |
G | intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0123 | 1 | 402 | 0.0025 | -22 | c.319 others(39): Show |
CNTFR | ENSG00000122756.15 | transcript | ENST00000378980.8 | protein_coding | 4/9 | chr9 | TogoVar | ||||||
CNTLN_chr9_17130040_17508923 | 17295989 | AGAGAGAG others(15): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG01192.hp1 HG02257.hp1 others(1): Show |
a0010 | a0010c0012 | a0010c0012t0002a0010c0012t0003 | a0010c0012t0002g0018a0010c0012t0002g0019a0010c0012t0002g0020others(1): Show | 4 | 218 | 0.0184 | -22 | c.984 others(39): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 6/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CNTLN_chr9_17130040_17508923 | 17317542 | TCAGAGGG others(15): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00738.hp2 HG01070.hp1 others(17): Show |
a0001a0002a0015 | a0001c0014a0002c0006a0002c0008others(2): Show | a0001c0014t0001a0002c0006t0001a0002c0006t0002others(5): Show | a0001c0014t0001g0038a0002c0006t0001g0029a0002c0006t0001g0030others(17): Show | 20 | 218 | 0.0917 | -22 | c.134 others(41): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 8/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CNTLN_chr9_17130040_17508923 | 17475091 | GCCCTCTT others(15): Show |
G | intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0168 | 1 | 218 | 0.0046 | -22 | c.385 others(41): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 23/25 | chr9 | TogoVar | ||||||
CNTLN_chr9_17130040_17508923 | 17486284 | CCATACAG others(15): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00597.hp1 others(66): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0001c0014others(17): Show | a0001c0001t0001a0001c0004t0001a0001c0014t0001others(23): Show | a0001c0001t0001g0082a0001c0001t0001g0121a0001c0001t0001g0124others(66): Show | 69 | 218 | 0.3165 | -22 | c.404 others(39): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 24/25 | chr9 | TogoVar | ||||||
CNTN1_chr12_40687439_41077415 | 40795299 | ACACACAC others(15): Show |
A | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0227 | 1 | 230 | 0.0044 | -22 | c.-77 others(43): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 1/23 | chr12 | TogoVar | ||||||
CNTN1_chr12_40687439_41077415 | 40832436 | ACAGTATT others(15): Show |
A | intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0102 | 1 | 230 | 0.0044 | -22 | c.-76 others(41): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CNTN1_chr12_40687439_41077415 | 40872208 | TTGTTTGT others(15): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG02109.hp1 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063a0001c0001t0001g0212a0001c0001t0001g0230 | 3 | 230 | 0.0130 | -22 | c.-76 others(41): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CNTN1_chr12_40687439_41077415 | 40975178 | TTATATAT others(15): Show |
T | intron_variant | MODIFIER | HG03098.hp1 HG03195.hp1 HG03579.hp1 |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0007a0001c0002t0003a0001c0009t0004 | a0001c0001t0007g0002a0001c0002t0003g0060a0001c0009t0004g0046 | 3 | 230 | 0.0130 | -22 | c.180 others(41): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CNTN3_chr3_74257568_74619659 | 74285790 | GATATATA others(15): Show |
G | intron_variant | MODIFIER | HG02809.hp1 HG02922.hp1 HG03041.hp1 others(5): Show |
a0001a0003a0007 | a0001c0001a0001c0008a0003c0003others(3): Show | a0001c0001t0004a0001c0008t0002a0003c0003t0002others(5): Show | a0001c0001t0004g0090a0001c0008t0002g0068a0003c0003t0002g0052others(5): Show | 8 | 174 | 0.0460 | -22 | c.251 others(39): Show |
CNTN3 | ENSG00000113805.9 | transcript | ENST00000263665.7 | protein_coding | 19/22 | chr3 | TogoVar | ||||||
CNTN3_chr3_74257568_74619659 | 74344397 | GTTTTTTT others(15): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0020 | 1 | 174 | 0.0058 | -22 | c.136 others(41): Show |
CNTN3 | ENSG00000113805.9 | transcript | ENST00000263665.7 | protein_coding | 11/22 | chr3 | TogoVar | ||||||
CNTN3_chr3_74257568_74619659 | 74460772 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01071.hp1 HG01167.hp1 others(26): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0099a0001c0001t0001g0108a0001c0001t0001g0134others(26): Show | 29 | 174 | 0.1667 | -22 | c.358 others(41): Show |
CNTN3 | ENSG00000113805.9 | transcript | ENST00000263665.7 | protein_coding | 4/22 | chr3 | TogoVar | ||||||
CNTN3_chr3_74257568_74619659 | 74590481 | CGCAGTGC others(15): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG01071.hp1 HG01934.hp2 others(45): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0099a0001c0001t0002g0038a0001c0001t0002g0069others(45): Show | 48 | 174 | 0.2759 | -22 | c.-81 others(41): Show |
CNTN3 | ENSG00000113805.9 | transcript | ENST00000263665.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
CNTN4_chr3_2093866_3062959 | 2708727 | TCACACAC others(15): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(53): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0050a0001c0001t0001g0099a0001c0001t0002g0028others(53): Show | 56 | 116 | 0.4828 | -22 | c.56- others(39): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTN4_chr3_2093866_3062959 | 2747416 | AAATAAAA others(15): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(75): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0012a0001c0001t0001g0049a0001c0001t0001g0050others(75): Show | 78 | 116 | 0.6724 | -22 | c.358 others(39): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTN5_chr11_99015949_100363885 | 99889291 | GGTGTGTG others(15): Show |
G | intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0010 | 1 | 66 | 0.0152 | -22 | c.578 others(41): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CNTN5_chr11_99015949_100363885 | 99934927 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG02895.hp2 | a0004 | a0004c0004 | a0004c0004t0013 | a0004c0004t0013g0050 | 1 | 66 | 0.0152 | -22 | c.673 others(41): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CNTN5_chr11_99015949_100363885 | 100204297 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0039 | 1 | 66 | 0.0152 | -22 | c.188 others(43): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 15/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CNTN6_chr3_1088024_1409217 | 1158770 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02698.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(1): Show | a0001c0001t0001g0082a0001c0002t0001g0121a0001c0006t0001g0200others(2): Show | 5 | 232 | 0.0216 | -22 | c.55+ others(39): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTN6_chr3_1088024_1409217 | 1300583 | AAGAAAGA others(15): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG01884.hp1 HG02109.hp2 others(9): Show |
a0001 | a0001c0002a0001c0003a0001c0005others(2): Show | a0001c0002t0001a0001c0003t0001a0001c0005t0001others(2): Show | a0001c0002t0001g0098a0001c0003t0001g0042a0001c0005t0001g0159others(9): Show | 12 | 232 | 0.0517 | -22 | c.761 others(39): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTN6_chr3_1088024_1409217 | 1301710 | TGAAGCAT others(15): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG01952.hp2 HG02109.hp1 others(10): Show |
a0001a0002a0006 | a0001c0002a0001c0005a0001c0006others(4): Show | a0001c0002t0004a0001c0005t0001a0001c0006t0001others(5): Show | a0001c0002t0004g0228a0001c0005t0001g0164a0001c0005t0001g0182others(10): Show | 13 | 232 | 0.0560 | -22 | c.761 others(39): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 146151676 | ATATATGT others(15): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG03225.hp2 |
a0001 | a0001c0012a0001c0018 | a0001c0012t0004a0001c0018t0002 | a0001c0012t0004g0026a0001c0018t0002g0012 | 2 | 40 | 0.0500 | -22 | c.97+ others(39): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 146457481 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG02486.hp1 HG02717.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0003t0020others(3): Show | a0001c0001t0001g0003a0001c0001t0007g0020a0001c0003t0020g0017others(3): Show | 6 | 40 | 0.1500 | -22 | c.98- others(41): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 146483280 | AAAATATA others(15): Show |
A | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0003 | a0001c0003t0023 | a0001c0003t0023g0030 | 1 | 40 | 0.0250 | -22 | c.98- others(41): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 146483308 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG02630.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0002a0001c0002t0002a0001c0008t0001others(1): Show | a0001c0001t0002g0006a0001c0002t0002g0013a0001c0008t0001g0025others(1): Show | 4 | 40 | 0.1000 | -22 | c.98- others(41): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 146622128 | TGTATATA others(15): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG02922.hp2 HG03098.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0010others(3): Show | a0001c0001t0002g0006a0001c0002t0001g0021a0001c0002t0010g0002others(3): Show | 6 | 40 | 0.1500 | -22 | c.98- others(41): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 146855807 | GTATATAT others(15): Show |
G | intron_variant | MODIFIER | HG02897.hp1 HG03540.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0004 | a0001c0002t0001g0008a0001c0003t0004g0029 | 2 | 40 | 0.0500 | -22 | c.402 others(41): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 146875884 | ACACACAC others(15): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG02486.hp1 HG03098.hp1 |
a0001 | a0001c0001a0001c0019 | a0001c0001t0001a0001c0001t0007a0001c0019t0006 | a0001c0001t0001g0003a0001c0001t0007g0020a0001c0019t0006g0015 | 3 | 40 | 0.0750 | -22 | c.402 others(41): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147104873 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | HG02886.hp1 HG03540.hp2 |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0013 | a0001c0003t0004g0029a0001c0003t0013g0010 | 2 | 40 | 0.0500 | -22 | c.551 others(39): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147176680 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG02486.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0018others(8): Show | a0001c0001t0001g0038a0001c0001t0007g0018a0001c0001t0007g0020others(9): Show | 12 | 40 | 0.3000 | -22 | c.134 others(43): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 148055729 | ACATTGCA others(15): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02451.hp2 HG02886.hp2 others(9): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0002a0001c0001t0007a0001c0002t0001others(9): Show | a0001c0001t0002g0006a0001c0001t0007g0018a0001c0002t0001g0007others(9): Show | 12 | 40 | 0.3000 | -22 | c.238 others(43): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 148365722 | GTGTATAT others(15): Show |
G | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0029 | 1 | 40 | 0.0250 | -22 | c.347 others(43): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP4_chr16_76272401_76565757 | 76307503 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | HG02109.hp2 NA18906.hp2 NA20752.hp1 |
a0001a0003a0013 | a0001c0001a0003c0003a0013c0033 | a0001c0001t0001a0003c0003t0005a0013c0033t0002 | a0001c0001t0001g0140a0003c0003t0005g0047a0013c0033t0002g0050 | 3 | 274 | 0.0110 | -22 | c.86- others(37): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CNTNAP4_chr16_76272401_76565757 | 76397938 | TTATATAC others(15): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00558.hp1 others(22): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0020a0001c0004t0003others(13): Show | a0001c0001t0001g0017a0001c0001t0001g0040a0001c0001t0001g0097others(22): Show | 25 | 274 | 0.0912 | -22 | c.391 others(41): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124194390 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0014 | 1 | 64 | 0.0156 | -22 | c.83- others(39): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124565574 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | HG02293.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020 | a0001c0001t0001g0011a0001c0001t0020g0014 | 2 | 64 | 0.0313 | -22 | c.175 others(41): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124619842 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02886.hp1 HG02886.hp2 others(6): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0002g0024a0001c0001t0003g0006a0001c0002t0001g0007others(6): Show | 9 | 64 | 0.1406 | -22 | c.187 others(41): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124702346 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | NA19240.hp2 NA20300.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0022a0001c0002t0001g0064 | 2 | 64 | 0.0313 | -22 | c.207 others(43): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124713221 | TTCTTTCT others(15): Show |
T | intron_variant | MODIFIER | HG03130.hp1 | a0006 | a0006c0003 | a0006c0003t0008 | a0006c0003t0008g0035 | 1 | 64 | 0.0156 | -22 | c.207 others(43): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124713296 | TCTTTCTT others(15): Show |
T | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0058 | 1 | 64 | 0.0156 | -22 | c.207 others(43): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COA1_chr7_43634257_43734523 | 43691455 | AAGAAAGA others(15): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02559.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0014others(4): Show | 7 | 384 | 0.0182 | -22 | c.-39 others(41): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51056812 | AACACACA others(15): Show |
A | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0181 | 1 | 230 | 0.0044 | -22 | c.109 others(43): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 7/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51156698 | TCACACAC others(15): Show |
T | intron_variant | MODIFIER | HG01975.hp2 | a0013 | a0013c0017 | a0013c0017t0001 | a0013c0017t0001g0187 | 1 | 230 | 0.0044 | -22 | c.784 others(41): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 5/12 | chr7 | TogoVar | ||||||
COCH_chr14_30869559_30895618 | 30893113 | TGGCAAAA others(15): Show |
T | downstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0175 | 1 | 478 | 0.0021 | -22 | c.*33 others(33): Show |
COCH | ENSG00000100473.18 | transcript | ENST00000396618.9 | protein_coding | 2496 | chr14 | TogoVar | ||||||
COG1_chr17_73188055_73213507 | 73192848 | CCGCCCCC others(15): Show |
C | upstream_gene_variant | MODIFIER | HG01952.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0002 | 1 | 428 | 0.0023 | -22 | c.-22 others(31): Show |
COG1 | ENSG00000166685.13 | transcript | ENST00000299886.9 | protein_coding | 206 | chr17 | TogoVar | ||||||
COG2_chr1_230637481_230698982 | 230667786 | AGGGACAT others(15): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01169.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0079a0001c0002t0001g0078 | 2 | 406 | 0.0049 | -22 | c.486 others(37): Show |
COG2 | ENSG00000135775.14 | transcript | ENST00000366669.9 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
COG2_chr1_230637481_230698982 | 230689179 | GTTTTTAT others(15): Show |
G | intron_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0114 | 1 | 406 | 0.0025 | -22 | c.179 others(39): Show |
COG2 | ENSG00000135775.14 | transcript | ENST00000366669.9 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |