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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNBD1_chr8_86861415_87387859 | 87255993 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 152 | 0.0066 | -30 | c.771 others(49): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 87281541 | GATATATA others(23): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01081.hp2 others(21): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0005others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0005t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0013others(21): Show | 24 | 152 | 0.1579 | -30 | c.772 others(47): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBP_chr3_129162827_129188896 | 129172665 | CAGACAGA others(23): Show |
C | intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0341 | 1 | 430 | 0.0023 | -30 | c.-14 others(45): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
CNDP1_chr18_74529500_74592212 | 74589275 | ATCAGAAG others(23): Show |
A | downstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0016 | 1 | 390 | 0.0026 | -30 | c.*47 others(41): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 2064 | chr18 | TogoVar | ||||||
CNGA1_chr4_47930977_48021681 | 48012648 | TTGATCAA others(23): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00621.hp1 others(32): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0006a0001c0004t0001 | a0001c0001t0001g0011a0001c0001t0001g0213a0001c0001t0001g0217others(31): Show | 35 | 366 | 0.0956 | -30 | c.-22 others(49): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 1/10 | chr4 | TogoVar | ||||||
CNGB3_chr8_86569179_86748634 | 86720839 | TACACACA others(23): Show |
T | intron_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0157 | 1 | 288 | 0.0035 | -30 | c.338 others(47): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 3/17 | chr8 | TogoVar | ||||||
CNIH1_chr14_54418561_54446374 | 54421310 | GCAGAGGT others(23): Show |
G | downstream_gene_variant | MODIFIER | HG00544.hp2 HG03490.hp1 HG03492.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0012 | 6 | 382 | 0.0157 | -30 | c.*64 others(41): Show |
CNIH1 | ENSG00000100528.12 | transcript | ENST00000216416.9 | protein_coding | 2250 | chr14 | TogoVar | ||||||
CNKSR1_chr1_26172491_26194884 | 26175350 | TTATGATT others(23): Show |
T | upstream_gene_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0020 | a0001c0020t0001 | a0001c0020t0001g0053 | 1 | 372 | 0.0027 | -30 | c.-21 others(41): Show |
CNKSR1 | ENSG00000142675.18 | transcript | ENST00000361530.11 | protein_coding | 2140 | chr1 | TogoVar | ||||||
CNKSR3_chr6_154382515_154515685 | 154382594 | GAGGGGAG others(23): Show |
G | downstream_gene_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0026 | 1 | 342 | 0.0029 | -30 | c.*23 others(43): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 4920 | chr6 | TogoVar | ||||||
CNKSR3_chr6_154382515_154515685 | 154485081 | TGGATTTT others(23): Show |
T | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0111 | 1 | 342 | 0.0029 | -30 | c.52+ others(47): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 1/12 | chr6 | TogoVar | ||||||
CNNM2_chr10_102913294_103095222 | 103072415 | ACTTCTCC others(23): Show |
A | intron_variant | MODIFIER | NA19011.hp2 NA19082.hp1 NA20129.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0043a0001c0003t0001 | a0001c0001t0043g0076a0001c0001t0043g0123a0001c0003t0001g0140 | 3 | 270 | 0.0111 | -30 | c.223 others(47): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CNNM2_chr10_102913294_103095222 | 103072455 | ACCACCAG others(23): Show |
A | intron_variant | MODIFIER | HG02970.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0083a0001c0001t0019g0084 | 2 | 270 | 0.0074 | -30 | c.223 others(47): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CNOT4_chr7_135356795_135515102 | 135472504 | AAAAAAAA others(23): Show |
A | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 362 | 0.0028 | -30 | c.-92 others(49): Show |
CNOT4 | ENSG00000080802.21 | transcript | ENST00000541284.6 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
CNOT4_chr7_135356795_135515102 | 135472508 | AAAAAAAA others(23): Show |
A | intron_variant | MODIFIER | HG01891.hp1 NA18978.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265a0001c0001t0001g0321 | 2 | 362 | 0.0055 | -30 | c.-92 others(49): Show |
CNOT4 | ENSG00000080802.21 | transcript | ENST00000541284.6 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
CNOT4_chr7_135356795_135515102 | 135472510 | AAAAAATA others(23): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG01934.hp2 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230a0001c0001t0001g0242a0001c0001t0001g0247 | 3 | 362 | 0.0083 | -30 | c.-92 others(49): Show |
CNOT4 | ENSG00000080802.21 | transcript | ENST00000541284.6 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
CNOT4_chr7_135356795_135515102 | 135495684 | AAAAAAAA others(23): Show |
A | intron_variant | MODIFIER | NA19000.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0062 | 1 | 362 | 0.0028 | -30 | c.-93 others(49): Show |
CNOT4 | ENSG00000080802.21 | transcript | ENST00000541284.6 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
CNOT4_chr7_135356795_135515102 | 135495688 | AAAAAAGA others(23): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG01123.hp1 others(5): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0006c0007t0001 | a0001c0001t0001g0238a0001c0001t0001g0270a0001c0001t0001g0312others(5): Show | 8 | 362 | 0.0221 | -30 | c.-93 others(49): Show |
CNOT4 | ENSG00000080802.21 | transcript | ENST00000541284.6 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
CNOT4_chr7_135356795_135515102 | 135495692 | AAGAAAGA others(23): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01106.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148a0001c0001t0001g0152 | 2 | 362 | 0.0055 | -30 | c.-93 others(49): Show |
CNOT4 | ENSG00000080802.21 | transcript | ENST00000541284.6 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
CNOT6_chr5_180489379_180583358 | 180539551 | CTTTTTTT others(23): Show |
C | intron_variant | MODIFIER | HG01257.hp1 HG01433.hp1 NA20905.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0032a0001c0002t0002 | a0001c0001t0006g0323a0001c0001t0032g0128a0001c0002t0002g0046 | 3 | 334 | 0.0090 | -30 | c.112 others(49): Show |
CNOT6 | ENSG00000113300.13 | transcript | ENST00000261951.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CNOT9_chr2_218563839_218602080 | 218583225 | GTGTGTGT others(23): Show |
G | intron_variant | MODIFIER | HG02717.hp2 HG02886.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0009 | 4 | 322 | 0.0124 | -30 | c.320 others(45): Show |
CNOT9 | ENSG00000144580.15 | transcript | ENST00000273064.11 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTN1_chr12_40687439_41077415 | 40690769 | ATTATTTT others(23): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(38): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0118a0001c0001t0001g0177a0001c0001t0001g0201others(38): Show | 41 | 230 | 0.1783 | -30 | c.-18 others(41): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 1669 | chr12 | TogoVar | ||||||
CNTN1_chr12_40687439_41077415 | 40795274 | TACACACA others(23): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG03041.hp1 HG03098.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0007a0001c0004t0003others(1): Show | a0001c0001t0002g0059a0001c0001t0007g0058a0001c0004t0003g0168others(2): Show | 5 | 230 | 0.0217 | -30 | c.-77 others(51): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CNTN3_chr3_74257568_74619659 | 74460772 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG03139.hp2 | a0008 | a0008c0016 | a0008c0016t0007 | a0008c0016t0007g0080 | 1 | 174 | 0.0058 | -30 | c.358 others(49): Show |
CNTN3 | ENSG00000113805.9 | transcript | ENST00000263665.7 | protein_coding | 4/22 | chr3 | TogoVar | ||||||
CNTN4_chr3_2093866_3062959 | 2287681 | AGAAGAAG others(23): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01261.hp2 others(8): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0005a0001c0002t0007a0001c0003t0001others(5): Show | a0001c0001t0005g0115a0001c0002t0007g0087a0001c0003t0001g0014others(8): Show | 11 | 116 | 0.0948 | -30 | c.-14 others(51): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTN4_chr3_2093866_3062959 | 2287693 | GGAAGAAG others(23): Show |
G | intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0036 | 1 | 116 | 0.0086 | -30 | c.-14 others(51): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTN4_chr3_2093866_3062959 | 2658965 | GACACACA others(23): Show |
G | intron_variant | MODIFIER | HG02258.hp1 NA18906.hp1 |
a0001a0002 | a0001c0006a0002c0015 | a0001c0006t0002a0002c0015t0003 | a0001c0006t0002g0026a0002c0015t0003g0103 | 2 | 116 | 0.0172 | -30 | c.56- others(47): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTN5_chr11_99015949_100363885 | 99523633 | ATAGAATA others(23): Show |
A | intron_variant | MODIFIER | HG06807.hp1 | a0006 | a0006c0006 | a0006c0006t0013 | a0006c0006t0013g0025 | 1 | 66 | 0.0152 | -30 | c.-70 others(49): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 2/24 | chr11 | TogoVar | ||||||
CNTN6_chr3_1088024_1409217 | 1098756 | GCACACAC others(23): Show |
G | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0178 | 1 | 232 | 0.0043 | -30 | c.-83 others(47): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTN6_chr3_1088024_1409217 | 1245265 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0134 | 1 | 232 | 0.0043 | -30 | c.358 others(49): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 4/22 | chr3 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 146151668 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02896.hp1 HG02897.hp1 |
a0001a0005 | a0001c0001a0001c0002a0005c0020 | a0001c0001t0002a0001c0002t0001a0005c0020t0005 | a0001c0001t0002g0006a0001c0002t0001g0008a0005c0020t0005g0016 | 3 | 40 | 0.0750 | -30 | c.97+ others(47): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 146457481 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG02886.hp2 HG03239.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003a0001c0005others(1): Show | a0001c0002t0002a0001c0003t0004a0001c0005t0022others(1): Show | a0001c0002t0002g0040a0001c0003t0004g0029a0001c0005t0022g0032others(1): Show | 4 | 40 | 0.1000 | -30 | c.98- others(49): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147033147 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG03098.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0003 | a0001c0001t0001g0003a0001c0004t0003g0035a0001c0004t0003g0036 | 3 | 40 | 0.0750 | -30 | c.403 others(49): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147083522 | TTATATAT others(23): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG02630.hp2 HG02976.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0007a0001c0002t0002a0001c0003t0020others(2): Show | a0001c0001t0007g0020a0001c0002t0002g0013a0001c0003t0020g0017others(2): Show | 5 | 40 | 0.1250 | -30 | c.551 others(49): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147347427 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0019 | a0001c0019t0006 | a0001c0019t0006g0015 | 1 | 40 | 0.0250 | -30 | c.149 others(51): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 9/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147784494 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0001 | 1 | 40 | 0.0250 | -30 | c.209 others(53): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147902784 | GTGTGTGT others(23): Show |
G | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0005 | a0001c0005t0022 | a0001c0005t0022g0032 | 1 | 40 | 0.0250 | -30 | c.209 others(47): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP4_chr16_76272401_76565757 | 76397938 | TTATATAC others(23): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01981.hp2 HG02717.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0026others(1): Show | a0001c0001t0004a0002c0002t0002a0002c0026t0004others(1): Show | a0001c0001t0004g0172a0002c0002t0002g0224a0002c0026t0004g0007others(1): Show | 4 | 274 | 0.0146 | -30 | c.391 others(49): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124706774 | AAGAAGAA others(23): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG01070.hp2 HG02698.hp2 others(6): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0004c0006others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0010a0001c0001t0001g0020a0001c0002t0001g0016others(6): Show | 9 | 64 | 0.1406 | -30 | c.207 others(51): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COA1_chr7_43634257_43734523 | 43691326 | AAAGAGAA others(23): Show |
A | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0020 | 2 | 384 | 0.0052 | -30 | c.-39 others(49): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51018905 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00733.hp1 others(30): Show |
a0001a0002a0005others(5): Show | a0001c0004a0002c0003a0005c0005others(7): Show | a0001c0004t0003a0002c0003t0001a0002c0003t0003others(10): Show | a0001c0004t0003g0227a0002c0003t0001g0001a0002c0003t0001g0002others(30): Show | 33 | 230 | 0.1435 | -30 | c.376 others(49): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120200715 | TTATATAT others(23): Show |
T | intron_variant | MODIFIER | HG01071.hp1 HG02258.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0019a0001c0003t0002g0108 | 2 | 218 | 0.0092 | -30 | c.877 others(47): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 8/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45437605 | GACACACA others(23): Show |
G | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0043 | 1 | 292 | 0.0034 | -30 | c.107 others(49): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45437641 | GGCACTCT others(23): Show |
G | intron_variant | MODIFIER | HG02970.hp2 HG03195.hp1 |
a0001 | a0001c0037 | a0001c0037t0001 | a0001c0037t0001g0062a0001c0037t0001g0157 | 2 | 292 | 0.0069 | -30 | c.107 others(49): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | chr21 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178244961 | TCATCCAT others(23): Show |
T | intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0225 | 1 | 236 | 0.0042 | -30 | c.144 others(47): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 25/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178448110 | ACAGTCCG others(23): Show |
A | intron_variant | MODIFIER | HG01256.hp2 HG01928.hp2 HG01934.hp2 others(30): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0002g0056a0001c0001t0002g0058a0001c0001t0002g0189others(30): Show | 33 | 236 | 0.1398 | -30 | c.361 others(51): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178473077 | TGTGCCAC others(23): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(153): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0002c0002others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0002a0001c0001t0002g0048a0001c0001t0002g0049others(153): Show | 156 | 236 | 0.6610 | -30 | c.361 others(49): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178498205 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp2 HG02615.hp2 others(4): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0003a0001c0001t0005a0002c0002t0010others(3): Show | a0001c0001t0003g0119a0001c0001t0003g0166a0001c0001t0005g0144others(4): Show | 7 | 236 | 0.0297 | -30 | c.361 others(49): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101489711 | TTCATTCT others(23): Show |
T | intron_variant | MODIFIER | HG01515.hp1 HG01515.hp2 HG02055.hp1 others(2): Show |
a0001a0002a0003 | a0001c0002a0001c0012a0002c0003others(2): Show | a0001c0002t0003a0001c0012t0010a0002c0003t0001others(2): Show | a0001c0002t0003g0056a0001c0012t0010g0002a0002c0003t0001g0140others(2): Show | 5 | 174 | 0.0287 | -30 | c.385 others(49): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL2A1_chr12_47967967_48009476 | 48008115 | GAGAGAGA others(23): Show |
G | upstream_gene_variant | MODIFIER | HG02615.hp2 NA18987.hp2 NA19063.hp2 |
a0001a0004 | a0001c0003a0001c0004a0004c0015 | a0001c0003t0001a0001c0004t0001a0004c0015t0006 | a0001c0003t0001g0237a0001c0004t0001g0137a0004c0015t0006g0265 | 3 | 414 | 0.0073 | -30 | c.-38 others(41): Show |
COL2A1 | ENSG00000139219.19 | transcript | ENST00000380518.8 | protein_coding | 3640 | chr12 | TogoVar | ||||||
COL3A1_chr2_188969373_189017746 | 188997014 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(143): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0008a0001c0004t0001others(8): Show | a0001c0001t0001g0035a0001c0001t0001g0080a0001c0001t0001g0094others(126): Show | 146 | 376 | 0.3883 | -30 | c.176 others(45): Show |
COL3A1 | ENSG00000168542.17 | transcript | ENST00000304636.9 | protein_coding | 24/50 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |