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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CERKL_chr2_181531672_181662105 | 181650107 | GAGGGAGG others(9): Show |
G | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0015 | 1 | 298 | 0.0034 | -16 | c.238 others(33): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
CERK_chr22_46679410_46743252 | 46680805 | CCCATCCA others(9): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG01109.hp1 HG01361.hp2 others(24): Show |
a0001a0003a0010others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0008a0001c0001t0011a0001c0001t0018others(11): Show | a0001c0001t0008g0034a0001c0001t0008g0035a0001c0001t0008g0036others(24): Show | 27 | 340 | 0.0794 | -16 | c.*63 others(27): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 3604 | chr22 | TogoVar | ||||||
CERK_chr22_46679410_46743252 | 46702221 | ATATGTGT others(9): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01952.hp2 HG01981.hp2 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0005a0001c0004t0012a0001c0004t0025 | a0001c0004t0005g0105a0001c0004t0005g0128a0001c0004t0012g0218others(1): Show | 4 | 340 | 0.0118 | -16 | c.716 others(31): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 6/12 | chr22 | TogoVar | ||||||
CERK_chr22_46679410_46743252 | 46702223 | ATGTGTGT others(9): Show |
A | intron_variant | MODIFIER | HG03516.hp1 NA18906.hp2 |
a0001 | a0001c0007 | a0001c0007t0008a0001c0007t0011 | a0001c0007t0008g0038a0001c0007t0011g0209 | 2 | 340 | 0.0059 | -16 | c.716 others(31): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 6/12 | chr22 | TogoVar | ||||||
CERS1_chr19_18863545_18901158 | 18897899 | TTCAAGGG others(9): Show |
T | upstream_gene_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0170 | 1 | 380 | 0.0026 | -16 | c.-18 others(27): Show |
CERS1 | ENSG00000223802.9 | transcript | ENST00000623882.4 | protein_coding | 1742 | chr19 | TogoVar | ||||||
CERS1_chr19_18863545_18901158 | 18898645 | CCTACCAG others(9): Show |
C | upstream_gene_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0009 | 1 | 380 | 0.0026 | -16 | c.-25 others(27): Show |
CERS1 | ENSG00000223802.9 | transcript | ENST00000623882.4 | protein_coding | 2488 | chr19 | TogoVar | ||||||
CERS3_chr15_100395395_100533950 | 100494210 | CATATATA others(9): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG02280.hp1 HG03453.hp2 others(1): Show |
a0002a0006 | a0002c0002a0006c0011 | a0002c0002t0001a0002c0002t0006a0002c0002t0028others(1): Show | a0002c0002t0001g0106a0002c0002t0006g0105a0002c0002t0028g0305others(1): Show | 4 | 362 | 0.0111 | -16 | c.174 others(33): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 3/11 | chr15 | TogoVar | ||||||
CERS3_chr15_100395395_100533950 | 100494243 | ATATATAT others(9): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG01256.hp1 HG01258.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0002a0001c0003t0005a0001c0007t0002others(3): Show | a0001c0001t0002g0085a0001c0001t0002g0092a0001c0001t0002g0093others(10): Show | 13 | 362 | 0.0359 | -16 | c.174 others(33): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 3/11 | chr15 | TogoVar | ||||||
CERS3_chr15_100395395_100533950 | 100497852 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0358 | 1 | 362 | 0.0028 | -16 | c.173 others(33): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 3/11 | chr15 | TogoVar | ||||||
CERS3_chr15_100395395_100533950 | 100497882 | CACACACA others(9): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG02080.hp2 HG02280.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0002a0001c0001t0018a0004c0005t0002 | a0001c0001t0002g0253a0001c0001t0002g0267a0001c0001t0018g0078others(1): Show | 4 | 362 | 0.0111 | -16 | c.173 others(33): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 3/11 | chr15 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8229405 | TTCTTTCT others(9): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(132): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0117a0001c0001t0001g0202a0001c0001t0001g0204others(131): Show | 135 | 418 | 0.3230 | -16 | c.-2+ others(33): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CERS5_chr12_50124289_50172369 | 50135302 | GAGAGGAG others(9): Show |
G | intron_variant | MODIFIER | HG02074.hp1 NA18953.hp2 NA18956.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125a0001c0001t0001g0133a0001c0001t0001g0163others(1): Show | 4 | 320 | 0.0125 | -16 | c.872 others(31): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 8/9 | chr12 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168477173 | CAGAGAGA others(9): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG02145.hp1 HG02258.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0094a0001c0001t0001g0175a0001c0001t0002g0009others(5): Show | 8 | 176 | 0.0455 | -16 | c.170 others(35): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168484167 | GTTTTTTT others(9): Show |
G | intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 176 | 0.0057 | -16 | c.170 others(35): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168645140 | TATAGAGA others(9): Show |
T | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0074 | 1 | 176 | 0.0057 | -16 | c.465 others(35): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168645142 | TAGAGAGA others(9): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0072a0001c0001t0009g0124 | 2 | 176 | 0.0114 | -16 | c.465 others(35): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168743986 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG02622.hp2 HG02970.hp2 others(3): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0007a0001c0001t0010a0001c0006t0007 | a0001c0001t0007g0013a0001c0001t0007g0051a0001c0001t0007g0119others(3): Show | 6 | 176 | 0.0341 | -16 | c.846 others(35): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168746775 | GTATATAT others(9): Show |
G | intron_variant | MODIFIER | HG01099.hp1 HG02280.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0012 | a0001c0001t0004g0014a0001c0001t0004g0155a0001c0001t0012g0110 | 3 | 176 | 0.0171 | -16 | c.846 others(35): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168747822 | CACACGCT others(9): Show |
C | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0115 | 1 | 176 | 0.0057 | -16 | c.846 others(35): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERT1_chr5_75372775_75516629 | 75375582 | AAAATAAA others(9): Show |
A | downstream_gene_variant | MODIFIER | HG01255.hp1 HG01358.hp1 HG03927.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0281a0001c0001t0002g0282a0001c0002t0001g0111 | 3 | 336 | 0.0089 | -16 | c.*37 others(27): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 2192 | chr5 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75388599 | CATATATA others(9): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02559.hp2 HG02630.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0002t0001 | a0001c0001t0013g0243a0001c0001t0013g0258a0001c0002t0001g0082others(5): Show | 8 | 336 | 0.0238 | -16 | c.128 others(33): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 12/16 | chr5 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75470542 | GAAAAAGC others(9): Show |
G | intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0284 | 1 | 336 | 0.0030 | -16 | c.232 others(35): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 2/16 | chr5 | TogoVar | ||||||
CES1_chr16_55797851_55838096 | 55798424 | GGAAAGAA others(9): Show |
G | downstream_gene_variant | MODIFIER | HG00597.hp2 HG01070.hp2 HG01433.hp2 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0006others(2): Show | a0001c0001t0001a0002c0002t0002a0002c0006t0002others(2): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0032others(9): Show | 12 | 87 | 0.1379 | -16 | c.*46 others(27): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 4426 | chr16 | TogoVar | ||||||
CES1_chr16_55797851_55838096 | 55825175 | AGAATGAA others(9): Show |
A | intron_variant | MODIFIER | HG00597.hp2 NA18612.hp2 NA18953.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0025a0001c0001t0001g0036others(1): Show | 4 | 87 | 0.0460 | -16 | c.405 others(31): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 3/13 | chr16 | TogoVar | ||||||
CES1_chr16_55797851_55838096 | 55836493 | GGCTGCAG others(9): Show |
G | upstream_gene_variant | MODIFIER | HG00438.hp1 HG02735.hp1 HG03490.hp2 others(3): Show |
a0002 | a0002c0002a0002c0006 | a0002c0002t0002a0002c0006t0002 | a0002c0002t0002g0065a0002c0002t0002g0066a0002c0002t0002g0067others(3): Show | 6 | 87 | 0.0690 | -16 | c.-34 others(27): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 3398 | chr16 | TogoVar | ||||||
CES4A_chr16_66983589_67015417 | 66997948 | AACACACA others(9): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0050 | 1 | 306 | 0.0033 | -16 | c.260 others(33): Show |
CES4A | ENSG00000172824.17 | transcript | ENST00000648724.3 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CETP_chr16_56956950_56988845 | 56959938 | GGAAAGAA others(9): Show |
G | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00597.hp1 others(52): Show |
a0001a0002a0007others(2): Show | a0001c0001a0001c0010a0002c0002others(7): Show | a0001c0001t0001a0001c0010t0001a0002c0002t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0032a0001c0001t0001g0229others(33): Show | 55 | 462 | 0.1191 | -16 | c.-20 others(27): Show |
CETP | ENSG00000087237.12 | transcript | ENST00000200676.8 | protein_coding | 2011 | chr16 | TogoVar | ||||||
CFAP100_chr3_126389909_126441556 | 126401397 | TTATATAT others(9): Show |
T | intron_variant | MODIFIER | HG01433.hp1 HG02080.hp2 HG02523.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0001a0002c0004t0001 | a0001c0001t0001g0182a0001c0001t0001g0371a0001c0002t0001g0192others(7): Show | 10 | 422 | 0.0237 | -16 | c.49+ others(31): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP100_chr3_126389909_126441556 | 126429107 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(104): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(5): Show | a0001c0001t0001g0004a0001c0001t0001g0014a0001c0001t0001g0019others(95): Show | 107 | 422 | 0.2536 | -16 | c.128 others(35): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP141_chr1_154194085_154211333 | 154203172 | AATATATA others(9): Show |
A | intron_variant | MODIFIER | HG01255.hp1 HG02055.hp2 HG02809.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0039others(5): Show | 11 | 372 | 0.0296 | -16 | c.74+ others(31): Show |
CFAP141 | ENSG00000163263.7 | transcript | ENST00000368525.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
CFAP141_chr1_154194085_154211333 | 154204091 | CAATAAAT others(9): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 372 | 0.0027 | -16 | c.74+ others(31): Show |
CFAP141 | ENSG00000163263.7 | transcript | ENST00000368525.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
CFAP144_chr1_43142904_43161396 | 43154060 | GTGTATAT others(9): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG01891.hp1 HG02615.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0042a0001c0001t0001g0074a0001c0003t0001g0078 | 4 | 396 | 0.0101 | -16 | c.297 others(33): Show |
CFAP144 | ENSG00000186973.11 | transcript | ENST00000335282.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFAP161_chr15_81129270_81154179 | 81133176 | CATATATA others(9): Show |
C | upstream_gene_variant | MODIFIER | HG00423.hp2 HG02040.hp2 HG02809.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007others(5): Show | 8 | 448 | 0.0179 | -16 | c.-11 others(27): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 1093 | chr15 | TogoVar | ||||||
CFAP161_chr15_81129270_81154179 | 81133209 | ATATATAT others(9): Show |
A | upstream_gene_variant | MODIFIER | HG00673.hp2 NA18939.hp2 NA18942.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0004a0001c0001t0001g0017a0001c0001t0001g0042others(4): Show | 7 | 448 | 0.0156 | -16 | c.-11 others(27): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 1060 | chr15 | TogoVar | ||||||
CFAP161_chr15_81129270_81154179 | 81146831 | AATATATA others(9): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01433.hp1 HG02818.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064a0001c0001t0001g0092a0001c0001t0001g0189 | 4 | 448 | 0.0089 | -16 | c.637 others(31): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CFAP20DC_chr3_58737008_59055025 | 58856299 | CACACACA others(9): Show |
C | intron_variant | MODIFIER | NA18906.hp2 NA19030.hp2 |
a0002a0010 | a0002c0003a0010c0015 | a0002c0003t0001a0010c0015t0001 | a0002c0003t0001g0165a0010c0015t0001g0164 | 2 | 204 | 0.0098 | -16 | c.159 others(35): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 12/16 | chr3 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58963190 | TTGTGTGT others(9): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG02622.hp2 HG02630.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002a0001c0002t0001g0003a0001c0002t0001g0188 | 3 | 204 | 0.0147 | -16 | c.279 others(35): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 4/16 | chr3 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169648162 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00733.hp2 others(29): Show |
a0001a0004a0010others(2): Show | a0001c0001a0004c0004a0010c0017others(2): Show | a0001c0001t0002a0004c0004t0002a0010c0017t0002others(2): Show | a0001c0001t0002g0016a0001c0001t0002g0017a0001c0001t0002g0018others(29): Show | 32 | 390 | 0.0821 | -16 | c.131 others(35): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169653027 | AAAATATA others(9): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00621.hp2 HG02698.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0068a0002c0002t0002g0069a0002c0002t0002g0073others(2): Show | 5 | 390 | 0.0128 | -16 | c.959 others(33): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169653029 | AATATATA others(9): Show |
A | intron_variant | MODIFIER | HG01516.hp1 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0285a0001c0001t0001g0324 | 2 | 390 | 0.0051 | -16 | c.959 others(33): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
CFAP221_chr2_119539449_119661661 | 119544464 | CGCCGGCG others(9): Show |
C | 5_prime_UTR_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0033 | 1 | 226 | 0.0044 | -16 | c.-89 others(23): Show |
CFAP221 | ENSG00000163075.13 | transcript | ENST00000413369.8 | protein_coding | 1/24 | 1648 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
CFAP251_chr12_121913592_122008919 | 121998432 | AATATATA others(9): Show |
A | intron_variant | MODIFIER | HG02523.hp1 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0076 | 1 | 354 | 0.0028 | -16 | c.300 others(35): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP276_chr1_109100951_109117747 | 109113416 | AAGAGAGA others(9): Show |
A | upstream_gene_variant | MODIFIER | HG01346.hp1 HG02300.hp2 HG02683.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0097 | 4 | 404 | 0.0099 | -16 | c.-75 others(25): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 670 | chr1 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80581453 | GATATATA others(9): Show |
G | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 96 | 0.0104 | -16 | c.243 others(33): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80800150 | TATATAAT others(9): Show |
T | intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0047 | 1 | 96 | 0.0104 | -16 | c.334 others(35): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80916252 | AATATATA others(9): Show |
A | intron_variant | MODIFIER | HG02040.hp2 NA18963.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055a0001c0001t0001g0062 | 2 | 96 | 0.0208 | -16 | c.477 others(35): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80955019 | AAAAAAAA others(9): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG02895.hp1 HG02965.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0027a0001c0001t0002g0051a0001c0003t0002g0084others(2): Show | 5 | 96 | 0.0521 | -16 | c.607 others(33): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 5/5 | chr4 | TogoVar | ||||||
CFAP43_chr10_104124888_104237364 | 104157773 | TGTGAGAG others(9): Show |
T | intron_variant | MODIFIER | HG00609.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0088 | 1 | 306 | 0.0033 | -16 | c.354 others(35): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 27/37 | chr10 | TogoVar | ||||||
CFAP43_chr10_104124888_104237364 | 104220949 | CGTGTGTG others(9): Show |
C | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 306 | 0.0033 | -16 | c.416 others(33): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 3/37 | chr10 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113328695 | TTAAAAAA others(9): Show |
T | intron_variant | MODIFIER | HG01243.hp1 | a0003 | a0003c0007 | a0003c0007t0023 | a0003c0007t0023g0176 | 1 | 348 | 0.0029 | -16 | c.411 others(33): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 26/34 | chr3 | TogoVar |