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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CELA2B_chr1_15471104_15496395 | 15478209 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055a0001c0001t0002g0170 | 3 | 414 | 0.0073 | -12 | c.129 others(29): Show |
CELA2B | ENSG00000215704.10 | transcript | ENST00000375910.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CELF1_chr11_47460937_47558132 | 47519479 | CTAAATAA others(5): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00558.hp1 others(73): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0096a0001c0001t0002g0077a0001c0001t0002g0259others(73): Show | 76 | 340 | 0.2235 | -12 | c.-15 others(33): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 1/14 | chr11 | TogoVar | ||||||
CELF1_chr11_47460937_47558132 | 47545858 | TGTGTGTG others(5): Show |
T | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0319 | 1 | 340 | 0.0029 | -12 | c.-15 others(31): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 1/14 | chr11 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11086578 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG02451.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0010a0001c0001t0020a0001c0001t0032others(9): Show | a0001c0001t0010g0015a0001c0001t0020g0036a0001c0001t0032g0075others(9): Show | 12 | 194 | 0.0619 | -12 | c.74+ others(29): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11148843 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp1 others(42): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(23): Show | a0001c0001t0001g0030a0001c0001t0001g0086a0001c0001t0001g0114others(42): Show | 45 | 194 | 0.2320 | -12 | c.75- others(29): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11202941 | CTCTCTCT others(5): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG03098.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0073a0001c0002t0002g0140 | 2 | 194 | 0.0103 | -12 | c.272 others(31): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11202943 | CTCTCTCT others(5): Show |
C | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0148 | 1 | 194 | 0.0052 | -12 | c.272 others(31): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11202949 | CTCTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02486.hp1 HG03041.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0023a0001c0003t0009 | a0001c0002t0001g0054a0001c0002t0023g0053a0001c0003t0009g0043 | 3 | 194 | 0.0155 | -12 | c.272 others(31): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11211809 | AGAGAGTG others(5): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02615.hp2 HG03017.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0050a0001c0002t0002others(1): Show | a0001c0001t0003g0149a0001c0001t0050g0173a0001c0002t0002g0027others(1): Show | 4 | 194 | 0.0206 | -12 | c.272 others(29): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11211811 | AGAGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0088 | 1 | 194 | 0.0052 | -12 | c.272 others(29): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11226600 | CCACACAC others(5): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG00621.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0013others(20): Show | a0001c0001t0001g0121a0001c0001t0001g0180a0001c0001t0007g0042others(24): Show | 27 | 194 | 0.1392 | -12 | c.354 others(29): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11228716 | CGCAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0004 | a0001c0004t0027 | a0001c0004t0027g0066 | 1 | 194 | 0.0052 | -12 | c.354 others(31): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 3/12 | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11228718 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(128): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(55): Show | a0001c0001t0001g0026a0001c0001t0001g0030a0001c0001t0001g0085others(128): Show | 131 | 194 | 0.6753 | -12 | c.354 others(31): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11285826 | GGTGTGTG others(5): Show |
G | intron_variant | MODIFIER | HG00673.hp1 HG01109.hp2 HG01433.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0008a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0008g0186a0001c0002t0001g0146a0001c0003t0001g0046others(5): Show | 8 | 194 | 0.0412 | -12 | c.842 others(29): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11285867 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02559.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0006a0001c0001t0021others(4): Show | a0001c0001t0003g0149a0001c0001t0006g0127a0001c0001t0021g0089others(4): Show | 7 | 194 | 0.0361 | -12 | c.842 others(29): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11323424 | AAATAATA others(5): Show |
A | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0022 | 1 | 194 | 0.0052 | -12 | c.129 others(31): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11333079 | TCTCCCTC others(5): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00642.hp2 HG02698.hp1 HG02735.hp2 others(2): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0006a0001c0001t0041a0001c0009t0006 | a0001c0001t0006g0117a0001c0001t0006g0118a0001c0001t0006g0127others(2): Show | 5 | 194 | 0.0258 | -12 | c.*40 others(23): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 13/13 | 4030 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
CELF3_chr1_151695058_151721803 | 151696461 | TTTTCTTT others(5): Show |
T | downstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 | 1 | 432 | 0.0023 | -12 | c.*69 others(23): Show |
CELF3 | ENSG00000159409.15 | transcript | ENST00000290583.9 | protein_coding | 3596 | chr1 | TogoVar | ||||||
CELF3_chr1_151695058_151721803 | 151696494 | TTTCTTTC others(5): Show |
T | downstream_gene_variant | MODIFIER | HG02056.hp2 HG02615.hp1 HG06807.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014 | a0001c0001t0004g0004a0001c0001t0004g0040a0001c0001t0014g0032 | 4 | 432 | 0.0093 | -12 | c.*69 others(23): Show |
CELF3 | ENSG00000159409.15 | transcript | ENST00000290583.9 | protein_coding | 3563 | chr1 | TogoVar | ||||||
CELF3_chr1_151695058_151721803 | 151696502 | TTTCGTTC others(5): Show |
T | downstream_gene_variant | MODIFIER | HG02895.hp1 HG02896.hp1 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0027 | a0001c0001t0006g0012a0001c0001t0027g0055 | 4 | 432 | 0.0093 | -12 | c.*69 others(23): Show |
CELF3 | ENSG00000159409.15 | transcript | ENST00000290583.9 | protein_coding | 3555 | chr1 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37343329 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG02071.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0088a0001c0001t0002g0085a0001c0002t0001g0072others(1): Show | 4 | 184 | 0.0217 | -12 | c.370 others(31): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37381110 | TCATCCAT others(5): Show |
T | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0176 | 1 | 184 | 0.0054 | -12 | c.370 others(31): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37383023 | CATGTATG others(5): Show |
C | intron_variant | MODIFIER | HG02818.hp1 HG02818.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0012a0001c0001t0042 | a0001c0001t0006g0017a0001c0001t0012g0026a0001c0001t0042g0123 | 3 | 184 | 0.0163 | -12 | c.370 others(31): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37414191 | CATCTATC others(5): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG01258.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0050a0001c0001t0001g0159a0001c0001t0001g0173others(15): Show | 18 | 184 | 0.0978 | -12 | c.369 others(31): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37470836 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG02723.hp1 HG02965.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0027a0001c0002t0024 | a0001c0001t0008g0136a0001c0001t0008g0137a0001c0001t0027g0048others(1): Show | 4 | 184 | 0.0217 | -12 | c.369 others(31): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37513941 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG02738.hp1 HG02818.hp1 HG03654.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0042a0001c0002t0032 | a0001c0001t0001g0182a0001c0001t0042g0123a0001c0002t0032g0023 | 3 | 184 | 0.0163 | -12 | c.287 others(31): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 1/12 | chr18 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37565877 | TCCTCTCT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(85): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0050a0001c0001t0001g0065a0001c0001t0001g0069others(85): Show | 88 | 184 | 0.4783 | -12 | c.-24 others(21): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 80 | chr18 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3226267 | TTGAATGA others(5): Show |
T | intron_variant | MODIFIER | HG02630.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0253a0001c0001t0002g0254 | 2 | 262 | 0.0076 | -12 | c.259 others(29): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CELF5_chr19_3219661_3302076 | 3228875 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 262 | 0.0038 | -12 | c.259 others(29): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CELF5_chr19_3219661_3302076 | 3248853 | TCTTCCTT others(5): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01169.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0228a0001c0001t0001g0230a0001c0001t0002g0174others(5): Show | 8 | 262 | 0.0305 | -12 | c.260 others(29): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CELF5_chr19_3219661_3302076 | 3248897 | CCTTCCTT others(5): Show |
C | intron_variant | MODIFIER | HG01256.hp1 HG01934.hp1 HG01943.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0138a0001c0001t0001g0143a0001c0002t0003g0022 | 3 | 262 | 0.0115 | -12 | c.260 others(29): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CELF5_chr19_3219661_3302076 | 3256534 | TTTATTAT others(5): Show |
T | intron_variant | MODIFIER | HG01358.hp2 HG01517.hp2 HG02970.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0010 | a0001c0001t0001a0001c0001t0005a0001c0003t0002others(1): Show | a0001c0001t0001g0077a0001c0001t0001g0165a0001c0001t0005g0072others(2): Show | 5 | 262 | 0.0191 | -12 | c.342 others(29): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CELF5_chr19_3219661_3302076 | 3257781 | TTTTTTTT others(5): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG01175.hp2 HG01256.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0006a0001c0001t0001g0063a0001c0001t0001g0086others(21): Show | 24 | 262 | 0.0916 | -12 | c.342 others(29): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CELF5_chr19_3219661_3302076 | 3277112 | CTCTGGTC others(5): Show |
C | intron_variant | MODIFIER | HG03098.hp2 HG03239.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0007t0002 | a0001c0001t0002g0123a0001c0001t0002g0174a0001c0007t0002g0144 | 3 | 262 | 0.0115 | -12 | c.524 others(27): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CELF5_chr19_3219661_3302076 | 3289681 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02622.hp2 HG02976.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0052a0001c0001t0001g0170a0001c0001t0005g0188 | 3 | 262 | 0.0115 | -12 | c.118 others(29): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CELF5_chr19_3219661_3302076 | 3299509 | CTCCTCCT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG02970.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168a0001c0001t0001g0176 | 2 | 262 | 0.0076 | -12 | c.*27 others(23): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2434 | chr19 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3299515 | CTCTTCTT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp2 NA18951.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0002 | a0001c0001t0005g0021a0001c0002t0002g0025 | 2 | 262 | 0.0076 | -12 | c.*27 others(23): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2440 | chr19 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3301326 | GTTTTTTT others(5): Show |
G | downstream_gene_variant | MODIFIER | HG03098.hp1 HG03225.hp2 HG03516.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0004 | a0001c0001t0001g0206a0001c0001t0002g0254a0001c0006t0004g0137 | 3 | 262 | 0.0115 | -12 | c.*46 others(23): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 4251 | chr19 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46364133 | CGTGCGCG others(5): Show |
C | disruptive_inframe_deletion | MODERATE | HG03471.hp2 | a0032 | a0032c0018 | a0032c0018t0002 | a0032c0018t0002g0021 | 1 | 104 | 0.0096 | -12 | c.888 others(21): Show |
p.Ser others(15): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 34/35 | 9347/11559 | 8886/9060 | 2962/3019 | chr22 | TogoVar | ||
CELSR1_chr22_46356174_46542620 | 46501010 | ATTTTATT others(5): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG02486.hp1 HG02615.hp2 others(5): Show |
a0002a0003a0007others(5): Show | a0002c0016a0003c0015a0007c0013others(5): Show | a0002c0016t0003a0003c0015t0001a0007c0013t0001others(5): Show | a0002c0016t0003g0025a0003c0015t0001g0022a0007c0013t0001g0023others(5): Show | 8 | 104 | 0.0769 | -12 | c.354 others(33): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46524564 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp2 HG00621.hp1 others(27): Show |
a0001a0014a0019others(4): Show | a0001c0001a0001c0002a0001c0025others(9): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0016others(11): Show | a0001c0001t0001g0037a0001c0001t0001g0043a0001c0001t0001g0045others(27): Show | 30 | 104 | 0.2885 | -12 | c.354 others(31): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46531185 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG00642.hp1 HG00642.hp2 others(42): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0002a0001c0004others(36): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0014others(38): Show | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0056others(42): Show | 45 | 104 | 0.4327 | -12 | c.354 others(31): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CELSR2_chr1_109244539_109280751 | 109244957 | AGGATGGA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0006 | a0002c0006t0003 | a0002c0006t0003g0097 | 1 | 356 | 0.0028 | -12 | c.-51 others(23): Show |
CELSR2 | ENSG00000143126.8 | transcript | ENST00000271332.4 | protein_coding | 4581 | chr1 | TogoVar | ||||||
CELSR3_chr3_48631463_48667886 | 48665419 | ATTTTTTT others(5): Show |
A | upstream_gene_variant | MODIFIER | HG04199.hp1 | a0021 | a0021c0017 | a0021c0017t0001 | a0021c0017t0001g0042 | 1 | 206 | 0.0049 | -12 | c.-27 others(23): Show |
CELSR3 | ENSG00000008300.17 | transcript | ENST00000164024.5 | protein_coding | 2534 | chr3 | TogoVar | ||||||
CEL_chr9_133056981_133076861 | 133058588 | TATTCCTT others(5): Show |
T | upstream_gene_variant | MODIFIER | NA18964.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0019 | 1 | 416 | 0.0024 | -12 | c.-34 others(23): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 3392 | chr9 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71694099 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(128): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0009a0001c0013others(18): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(54): Show | a0001c0001t0001g0115a0001c0001t0001g0154a0001c0001t0001g0159others(128): Show | 131 | 320 | 0.4094 | -12 | c.369 others(29): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 21/23 | chr9 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71728290 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | NA19043.hp2 | a0006 | a0006c0033 | a0006c0033t0057 | a0006c0033t0057g0025 | 1 | 320 | 0.0031 | -12 | c.204 others(31): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 10/23 | chr9 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71732686 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG01433.hp2 HG02056.hp1 HG02723.hp2 others(7): Show |
a0001a0006 | a0001c0001a0001c0023a0006c0027 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(2): Show | a0001c0001t0001g0115a0001c0001t0001g0241a0001c0001t0001g0279others(7): Show | 10 | 320 | 0.0313 | -12 | c.139 others(29): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 6/23 | chr9 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80810803 | ACCATCCA others(5): Show |
A | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 254 | 0.0039 | -12 | c.-17 others(33): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CEMIP_chr15_80774370_80956771 | 80817602 | AAATAATA others(5): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG01884.hp1 others(1): Show |
a0001a0008 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0001a0001c0005t0003a0001c0007t0003others(1): Show | a0001c0001t0001g0229a0001c0005t0003g0122a0001c0007t0003g0054others(1): Show | 4 | 254 | 0.0158 | -12 | c.-17 others(33): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |