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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CERS6_chr2_168451272_168780134 | 168604390 | CGTGTGT | C | intron_variant | MODIFIER | HG02647.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0014 | a0001c0001t0010g0004 a0001c0001t0014g0078 |
2 | 176 | 0.0114 | -6 | c.408 others(25): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168620011 | CCATACA | C | intron_variant | MODIFIER | HG01074.hp1 HG02055.hp1 HG02523.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0153 a0001c0001t0002g0099 a0001c0001t0002g0141 others(7): Show |
10 | 176 | 0.0568 | -6 | c.408 others(25): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168620014 | TACACAC | T | intron_variant | MODIFIER | HG02145.hp2 HG02486.hp1 HG02922.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0011 | a0001c0001t0004g0049 a0001c0001t0006g0031 a0001c0001t0006g0032 others(2): Show |
5 | 176 | 0.0284 | -6 | c.408 others(25): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168620058 | CACACAT | C | intron_variant | MODIFIER | HG00735.hp2 HG02280.hp2 HG02293.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0003g0026 a0001c0001t0004g0024 a0001c0001t0005g0022 others(1): Show |
4 | 176 | 0.0227 | -6 | c.408 others(25): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168631665 | TTTTATA | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00558.hp1 others(141): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0027 others(141): Show |
144 | 176 | 0.8182 | -6 | c.465 others(21): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168645089 | TTAAAAA | T | intron_variant | MODIFIER | HG02071.hp2 HG02258.hp1 HG02922.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0001t0013a0001c0001t0036others(2): Show | a0001c0001t0012g0050 a0001c0001t0013g0174 a0001c0001t0036g0149 others(2): Show |
5 | 176 | 0.0284 | -6 | c.465 others(25): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | chr2 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168645142 | TAGAGAG | T | intron_variant | MODIFIER | HG02055.hp2 HG02129.hp1 HG02145.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0175 a0001c0001t0002g0062 a0001c0001t0002g0103 others(12): Show |
15 | 176 | 0.0852 | -6 | c.465 others(25): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168649270 | GAGAGGT | G | intron_variant | MODIFIER | HG02145.hp1 HG02165.hp2 HG02559.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0175 a0001c0001t0002g0062 a0001c0001t0003g0006 others(6): Show |
9 | 176 | 0.0511 | -6 | c.465 others(25): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | chr2 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168741373 | TAAAAAA | T | intron_variant | MODIFIER | HG01074.hp2 HG02109.hp1 HG02615.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0018a0001c0001t0020 | a0001c0001t0011g0011 a0001c0001t0011g0042 a0001c0001t0011g0069 others(6): Show |
9 | 176 | 0.0511 | -6 | c.845 others(25): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168746775 | GTATATA | G | intron_variant | MODIFIER | HG01496.hp2 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009 | a0001c0001t0004g0074 a0001c0001t0009g0041 |
2 | 176 | 0.0114 | -6 | c.846 others(25): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168746816 | TATATAA | T | intron_variant | MODIFIER | HG02132.hp1 HG02809.hp2 HG02818.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0133 a0001c0001t0003g0107 a0001c0001t0005g0102 others(3): Show |
6 | 176 | 0.0341 | -6 | c.846 others(25): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75388599 | CATATAT | C | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG00642.hp2 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0010a0001c0005t0002 | a0001c0001t0002g0144 a0001c0001t0002g0157 a0001c0001t0002g0169 others(5): Show |
8 | 336 | 0.0238 | -6 | c.128 others(23): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 12/16 | chr5 | TogoVar | |||||||
CERT1_chr5_75372775_75516629 | 75393602 | TAAAAAA | T | intron_variant | MODIFIER | HG02027.hp2 NA18747.hp1 NA18942.hp1 others(9): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0002 | a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 others(9): Show |
12 | 336 | 0.0357 | -6 | c.118 others(25): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 11/16 | chr5 | TogoVar | |||||||
CERT1_chr5_75372775_75516629 | 75395881 | AAACAAC | A | intron_variant | MODIFIER | HG01192.hp1 HG01261.hp1 NA19009.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0174 a0001c0001t0002g0181 a0001c0001t0002g0182 others(1): Show |
4 | 336 | 0.0119 | -6 | c.118 others(25): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 11/16 | chr5 | TogoVar | |||||||
CERT1_chr5_75372775_75516629 | 75409300 | TATTACA | T | intron_variant | MODIFIER | HG02027.hp1 HG02056.hp1 HG02132.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0323 a0001c0002t0009g0324 a0001c0002t0009g0325 others(3): Show |
6 | 336 | 0.0179 | -6 | c.930 others(23): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 8/16 | chr5 | TogoVar | |||||||
CERT1_chr5_75372775_75516629 | 75478909 | TAAAAAA | T | intron_variant | MODIFIER | HG01169.hp1 HG01256.hp1 HG01884.hp2 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004a0001c0002t0018 | a0001c0002t0001g0028 a0001c0002t0001g0031 a0001c0002t0001g0032 others(12): Show |
15 | 336 | 0.0446 | -6 | c.232 others(25): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 2/16 | chr5 | TogoVar | |||||||
CES4A_chr16_66983589_67015417 | 66997948 | AACACAC | A | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00558.hp2 others(92): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 others(55): Show |
95 | 306 | 0.3105 | -6 | c.260 others(23): Show |
CES4A | ENSG00000172824.17 | transcript | ENST00000648724.3 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CES5A_chr16_55841154_55880373 | 55857514 | CTCCTGG | C | intron_variant | MODIFIER | HG03239.hp2 HG03490.hp1 HG03492.hp2 |
a0010 | a0010c0019 | a0010c0019t0004 | a0010c0019t0004g0010 a0010c0019t0004g0047 |
3 | 449 | 0.0067 | -6 | c.105 others(25): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 8/12 | chr16 | TogoVar | |||||||
CETN1_chr18_575380_587114 | 576444 | GAGAGGA | G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01257.hp1 HG02451.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0005g0000 others(3): Show |
8 | 422 | 0.0190 | -6 | c.-39 others(17): Show |
CETN1 | ENSG00000177143.5 | transcript | ENST00000327228.5 | protein_coding | 3935 | chr18 | TogoVar | |||||||
CETN2_chrX_152821994_152835757 | 152825724 | CCCACTG | C | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02886.hp2 HG03195.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 | 5 | 321 | 0.0156 | -6 | c.*21 others(17): Show |
CETN2 | ENSG00000147400.10 | transcript | ENST00000370277.5 | protein_coding | 1269 | chrX | TogoVar | |||||||
CETN3_chr5_90387257_90414756 | 90403875 | GAAAAAA | G | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00741.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0059 others(2): Show |
13 | 348 | 0.0374 | -6 | c.268 others(23): Show |
CETN3 | ENSG00000153140.9 | transcript | ENST00000283122.8 | protein_coding | 3/4 | chr5 | TogoVar | |||||||
CFAP100_chr3_126389909_126441556 | 126401397 | TTATATA | T | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG02109.hp2 others(3): Show |
a0001a0003a0004 | a0001c0001a0003c0005a0004c0007 | a0001c0001t0001a0003c0005t0001a0004c0007t0001 | a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0346 others(3): Show |
6 | 422 | 0.0142 | -6 | c.49+ others(21): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CFAP126_chr1_161359733_161372876 | 161371691 | TCTGTGG | T | upstream_gene_variant | MODIFIER | HG02886.hp2 HG02895.hp1 HG02896.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 5 | 350 | 0.0143 | -6 | c.-38 others(17): Show |
CFAP126 | ENSG00000188931.4 | transcript | ENST00000367974.2 | protein_coding | 3816 | chr1 | TogoVar | |||||||
CFAP141_chr1_154194085_154211333 | 154203172 | AATATAT | A | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp1 HG01099.hp1 others(15): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0052 others(5): Show |
18 | 372 | 0.0484 | -6 | c.74+ others(21): Show |
CFAP141 | ENSG00000163263.7 | transcript | ENST00000368525.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
CFAP144_chr1_43142904_43161396 | 43154062 | GTATATA | G | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01081.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0026 others(9): Show |
27 | 396 | 0.0682 | -6 | c.297 others(23): Show |
CFAP144 | ENSG00000186973.11 | transcript | ENST00000335282.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFAP161_chr15_81129270_81154179 | 81133176 | CATATAT | C | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02071.hp1 HG02145.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006 | a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0024 others(7): Show |
10 | 448 | 0.0223 | -6 | c.-11 others(17): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 1093 | chr15 | TogoVar | |||||||
CFAP161_chr15_81129270_81154179 | 81133223 | ATGTATT | A | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01346.hp1 HG03490.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0148 |
4 | 448 | 0.0089 | -6 | c.-11 others(17): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 1046 | chr15 | TogoVar | |||||||
CFAP161_chr15_81129270_81154179 | 81133894 | TTGCTGC | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(146): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 others(96): Show |
149 | 448 | 0.3326 | -6 | c.-43 others(15): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 375 | chr15 | TogoVar | |||||||
CFAP161_chr15_81129270_81154179 | 81133921 | CTGCTGA | C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG00733.hp1 others(56): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0002c0002t0001a0004c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0001g0032 others(28): Show |
59 | 448 | 0.1317 | -6 | c.-40 others(15): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 348 | chr15 | TogoVar | |||||||
CFAP161_chr15_81129270_81154179 | 81139297 | AAAAAAT | A | intron_variant | MODIFIER | HG01255.hp1 HG02615.hp1 NA19240.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 others(1): Show |
4 | 448 | 0.0089 | -6 | c.477 others(23): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CFAP161_chr15_81129270_81154179 | 81146831 | AATATAT | A | intron_variant | MODIFIER | HG00733.hp2 HG02055.hp1 HG02056.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0059 a0001c0001t0001g0091 a0001c0001t0001g0133 others(12): Show |
16 | 448 | 0.0357 | -6 | c.637 others(21): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CFAP206_chr6_87402972_87469465 | 87450475 | ATGTGTG | A | intron_variant | MODIFIER | HG02165.hp2 HG02615.hp2 HG02630.hp2 others(7): Show |
a0001a0011 | a0001c0001a0011c0016 | a0001c0001t0001a0001c0001t0002a0011c0016t0001 | a0001c0001t0001g0306 a0001c0001t0001g0330 a0001c0001t0001g0336 others(7): Show |
10 | 376 | 0.0266 | -6 | c.149 others(27): Show |
CFAP206 | ENSG00000272514.6 | transcript | ENST00000369562.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58751862 | CACACAA | C | intron_variant | MODIFIER | NA18949.hp1 NA18978.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0045 a0001c0002t0002g0090 |
2 | 204 | 0.0098 | -6 | c.233 others(25): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 16/16 | chr3 | TogoVar | |||||||
CFAP20DC_chr3_58737008_59055025 | 58799733 | CTGTGTG | C | intron_variant | MODIFIER | HG01109.hp2 HG02071.hp1 HG02155.hp1 others(7): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0002t0002a0001c0005t0001 | a0001c0002t0001g0158 a0001c0002t0001g0196 a0001c0002t0001g0197 others(7): Show |
10 | 204 | 0.0490 | -6 | c.223 others(25): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 15/16 | chr3 | TogoVar | |||||||
CFAP20DC_chr3_58737008_59055025 | 58856265 | GACACAC | G | intron_variant | MODIFIER | HG01109.hp2 HG02559.hp1 HG02572.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0196 others(3): Show |
6 | 204 | 0.0294 | -6 | c.159 others(25): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 12/16 | chr3 | TogoVar | |||||||
CFAP20DC_chr3_58737008_59055025 | 58891422 | GGGGAGA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(177): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0037 others(177): Show |
180 | 204 | 0.8824 | -6 | c.551 others(23): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 6/16 | chr3 | TogoVar | |||||||
CFAP20DC_chr3_58737008_59055025 | 59030809 | TTTTTTG | T | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp1 HG02615.hp1 others(4): Show |
a0001a0003 | a0001c0002a0001c0012a0003c0004 | a0001c0002t0001a0001c0012t0002a0003c0004t0001 | a0001c0002t0001g0158 a0001c0012t0002g0157 a0003c0004t0001g0159 others(4): Show |
7 | 204 | 0.0343 | -6 | c.278 others(23): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 4/16 | chr3 | TogoVar | |||||||
CFAP20_chr16_58108592_58134381 | 58126980 | AAATTAG | A | intron_variant | MODIFIER | HG00642.hp2 HG01109.hp1 HG02055.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0002t0001 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0020 others(9): Show |
33 | 400 | 0.0825 | -6 | c.84+ others(21): Show |
CFAP20 | ENSG00000070761.8 | transcript | ENST00000262498.8 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
CFAP20_chr16_58108592_58134381 | 58132698 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG00673.hp2 HG01099.hp1 HG01981.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0082 a0001c0001t0001g0093 others(22): Show |
37 | 400 | 0.0925 | -6 | c.-35 others(17): Show |
CFAP20 | ENSG00000070761.8 | transcript | ENST00000262498.8 | protein_coding | 3318 | chr16 | TogoVar | |||||||
CFAP210_chr2_169640425_169699405 | 169643740 | GAAAAAA | G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00609.hp2 others(30): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0001a0002c0002t0002a0006c0006t0002 | a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 others(28): Show |
33 | 390 | 0.0846 | -6 | c.*20 others(17): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 1684 | chr2 | TogoVar | |||||||
CFAP210_chr2_169640425_169699405 | 169644877 | AAAAATT | A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00609.hp2 others(23): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0009 a0002c0002t0002g0067 a0002c0002t0002g0068 others(22): Show |
26 | 390 | 0.0667 | -6 | c.*95 others(15): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 547 | chr2 | TogoVar | |||||||
CFAP210_chr2_169640425_169699405 | 169648162 | CAAAAAA | C | intron_variant | MODIFIER | HG02074.hp2 HG02258.hp2 HG02486.hp2 others(8): Show |
a0001a0003 | a0001c0001a0001c0008a0003c0003 | a0001c0001t0001a0001c0008t0001a0003c0003t0002 | a0001c0001t0001g0136 a0001c0001t0001g0288 a0001c0001t0001g0289 others(8): Show |
11 | 390 | 0.0282 | -6 | c.131 others(25): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
CFAP210_chr2_169640425_169699405 | 169650384 | TTTTCTC | T | disruptive_inframe_deletion | MODERATE | HG03209.hp2 HG03225.hp2 NA20129.hp2 |
a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0255 a0007c0009t0001g0256 a0007c0009t0001g0257 |
3 | 390 | 0.0077 | -6 | c.109 others(15): Show |
p.Arg others(13): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 7/9 | 1174/2153 | 1091/1659 | 364/552 | chr2 | TogoVar | |||
CFAP210_chr2_169640425_169699405 | 169650734 | CTGTGTG | C | intron_variant | MODIFIER | HG00423.hp1 HG01192.hp2 HG01358.hp2 others(54): Show |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0001a0001c0001t0004a0007c0009t0001 | a0001c0001t0001g0003 a0001c0001t0001g0143 a0001c0001t0001g0144 others(52): Show |
57 | 390 | 0.1462 | -6 | c.960 others(21): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
CFAP210_chr2_169640425_169699405 | 169653029 | AATATAT | A | intron_variant | MODIFIER | HG00423.hp2 HG00735.hp1 HG01175.hp1 others(22): Show |
a0001a0015 | a0001c0001a0015c0012 | a0001c0001t0001a0015c0012t0001 | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(22): Show |
25 | 390 | 0.0641 | -6 | c.959 others(23): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
CFAP210_chr2_169640425_169699405 | 169656498 | GGGAGGA | G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(59): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0007a0002c0002others(6): Show | a0001c0001t0002a0001c0007t0002a0002c0002t0002others(6): Show | a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 others(55): Show |
62 | 390 | 0.1590 | -6 | c.820 others(23): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 5/8 | chr2 | TogoVar | |||||||
CFAP210_chr2_169640425_169699405 | 169684648 | CGTTGTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(82): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0007a0002c0002others(6): Show | a0001c0001t0002a0001c0007t0002a0002c0002t0002others(6): Show | a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 others(77): Show |
85 | 390 | 0.2180 | -6 | c.68- others(21): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
CFAP210_chr2_169640425_169699405 | 169692444 | GCACACA | G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG01256.hp1 others(25): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0007a0003c0003others(2): Show | a0001c0001t0002a0001c0007t0002a0003c0003t0002others(2): Show | a0001c0001t0002g0091 a0001c0001t0002g0102 a0001c0007t0002g0051 others(21): Show |
28 | 390 | 0.0718 | -6 | c.67+ others(21): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
CFAP210_chr2_169640425_169699405 | 169693972 | AGCTGGG | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(224): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0007a0001c0008others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(209): Show |
227 | 390 | 0.5821 | -6 | c.67+ others(19): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
CFAP221_chr2_119539449_119661661 | 119627518 | GATATAT | G | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp1 others(180): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0007a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0017 others(179): Show |
183 | 226 | 0.8097 | -6 | c.151 others(23): Show |
CFAP221 | ENSG00000163075.13 | transcript | ENST00000413369.8 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |