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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP85_chr1_26229200_26283808 | 26282328 | A | AGGGACTG others(17): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00558.hp1 others(54): Show |
a0001a0006 | a0001c0001a0006c0014 | a0001c0001t0002a0001c0001t0005a0006c0014t0002 | a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0007 others(42): Show |
57 | 303 | 0.1881 | 24 | c.*50 others(35): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 3521 | chr1 | TogoVar | |||||||
CEP85_chr1_26229200_26283808 | 26282382 | T | TGGGGCCG others(17): Show |
downstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0001 | 1 | 339 | 0.0029 | 24 | c.*50 others(35): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 3575 | chr1 | TogoVar | |||||||
CEP89_chr19_32870925_32976958 | 32902004 | C | CTGTGTGT others(17): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0047 | 1 | 274 | 0.0036 | 24 | c.156 others(41): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 14/18 | chr19 | TogoVar | |||||||
CEP89_chr19_32870925_32976958 | 32944220 | T | TAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0004 | a0004c0005 | a0004c0005t0005 | a0004c0005t0005g0166 | 1 | 170 | 0.0059 | 24 | c.595 others(41): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
CEP89_chr19_32870925_32976958 | 32951534 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0376 | 1 | 106 | 0.0094 | 24 | c.492 others(41): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 4/18 | chr19 | TogoVar | |||||||
CERKL_chr2_181531672_181662105 | 181609533 | T | TAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0003 | a0003c0005 | a0003c0005t0008 | a0003c0005t0008g0129 | 1 | 34 | 0.0294 | 24 | c.239 others(41): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
CERK_chr22_46679410_46743252 | 46680604 | A | ACCCATTC others(17): Show |
downstream_gene_variant | MODIFIER | NA19240.hp1 | a0003 | a0003c0011 | a0003c0011t0024 | a0003c0011t0024g0186 | 1 | 338 | 0.0030 | 24 | c.*65 others(35): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 3805 | chr22 | TogoVar | |||||||
CERK_chr22_46679410_46743252 | 46680721 | C | CCCACCCA others(17): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG01243.hp1 HG01346.hp1 others(10): Show |
a0001a0013a0014 | a0001c0001a0001c0024a0001c0026others(2): Show | a0001c0001t0012a0001c0001t0021a0001c0001t0032others(4): Show | a0001c0001t0012g0187 a0001c0001t0012g0195 a0001c0001t0012g0290 others(10): Show |
13 | 338 | 0.0385 | 24 | c.*64 others(35): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 3688 | chr22 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100466840 | C | CCTCTCTC others(17): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00741.hp2 HG01069.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0035 a0001c0001t0001g0153 a0001c0001t0001g0154 others(9): Show |
13 | 114 | 0.1140 | 24 | c.845 others(41): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 10/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100466841 | C | CTCTCTCC others(17): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00621.hp1 others(42): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(42): Show |
45 | 221 | 0.2036 | 24 | c.845 others(41): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 10/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100467850 | T | TATAGATA others(17): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0303 | 1 | 146 | 0.0068 | 24 | c.845 others(41): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 10/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100467874 | G | GATAGATA others(17): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 328 | 0.0030 | 24 | c.845 others(41): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 10/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100526478 | C | CTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00738.hp2 HG02735.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0004 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(4): Show |
7 | 10 | 0.7000 | 24 | c.-92 others(41): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 1/11 | chr15 | TogoVar | |||||||
CERS4_chr19_8204370_8267421 | 8231851 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0240 | 1 | 40 | 0.0250 | 24 | c.-1- others(41): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8240585 | A | AGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG02273.hp1 HG02965.hp1 HG02970.hp2 others(4): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0004c0005others(1): Show | a0001c0001t0003a0001c0002t0002a0001c0002t0003others(2): Show | a0001c0001t0003g0048 a0001c0001t0003g0186 a0001c0002t0002g0276 others(4): Show |
7 | 85 | 0.0824 | 24 | c.-1- others(41): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8245114 | A | AAAACAAA others(17): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00733.hp1 HG01070.hp2 others(39): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0007others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0132 a0001c0001t0002g0240 a0001c0001t0002g0252 others(39): Show |
42 | 416 | 0.1010 | 24 | c.-1- others(39): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8245122 | A | ACAAAACA others(17): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(123): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 others(123): Show |
126 | 275 | 0.4582 | 24 | c.-1- others(39): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | chr19 | TogoVar | |||||||
CERS4_chr19_8204370_8267421 | 8245127 | A | AACAAAAA others(17): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0391 | 1 | 413 | 0.0024 | 24 | c.-1- others(39): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8266863 | C | CAAAAAAA others(17): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0147 | 1 | 55 | 0.0182 | 24 | c.*47 others(35): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4443 | chr19 | TogoVar | |||||||
CERS4_chr19_8204370_8267421 | 8267294 | C | CAAAAAAA others(17): Show |
downstream_gene_variant | MODIFIER | HG03453.hp1 | a0003 | a0003c0007 | a0003c0007t0009 | a0003c0007t0009g0136 | 1 | 108 | 0.0093 | 24 | c.*51 others(35): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4874 | chr19 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50148946 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0260 | 1 | 267 | 0.0037 | 24 | c.198 others(41): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50148946 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0234 | 1 | 267 | 0.0037 | 24 | c.198 others(41): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50156420 | C | CTATATAT others(17): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02572.hp2 HG02717.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0006a0002c0003t0003 | a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0006g0201 others(2): Show |
5 | 145 | 0.0345 | 24 | c.197 others(43): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50156437 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0272 | 1 | 274 | 0.0036 | 24 | c.197 others(43): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168455505 | T | TATCATCA others(17): Show |
upstream_gene_variant | MODIFIER | HG01255.hp2 HG01884.hp2 HG02622.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(2): Show | a0001c0001t0001g0130 a0001c0001t0004g0125 a0001c0001t0004g0128 others(3): Show |
6 | 27 | 0.2222 | 24 | c.-94 others(33): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 766 | chr2 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168559733 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01074.hp1 HG02922.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(3): Show | a0001c0001t0002g0052 a0001c0001t0002g0097 a0001c0001t0005g0146 others(4): Show |
7 | 31 | 0.2258 | 24 | c.277 others(41): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 2/9 | chr2 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168620062 | C | CACACACA others(17): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0131 | 1 | 160 | 0.0063 | 24 | c.408 others(43): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168645142 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0121 | 1 | 88 | 0.0114 | 24 | c.465 others(43): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75393602 | T | TAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01123.hp1 HG01943.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0139 a0001c0001t0002g0169 a0001c0001t0002g0216 others(8): Show |
11 | 19 | 0.5789 | 24 | c.118 others(43): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 11/16 | chr5 | TogoVar | |||||||
CES1_chr16_55797851_55838096 | 55830773 | A | AGAAGGAA others(17): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0005 | a0005c0005 | a0005c0005t0003 | a0005c0005t0003g0082 | 1 | 43 | 0.0233 | 24 | c.53- others(39): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
CES1_chr16_55797851_55838096 | 55830819 | A | AAGGAAGG others(17): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0072 | 1 | 65 | 0.0154 | 24 | c.53- others(39): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
CES1_chr16_55797851_55838096 | 55835677 | G | GAGGAAGG others(17): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG01169.hp1 others(12): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0003c0003t0001a0004c0004t0001 | a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0022 others(12): Show |
15 | 29 | 0.5172 | 24 | c.-26 others(35): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2582 | chr16 | TogoVar | |||||||
CES5A_chr16_55841154_55880373 | 55866658 | T | TAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0332 | 1 | 284 | 0.0035 | 24 | c.552 others(39): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 4/12 | chr16 | TogoVar | |||||||
CETP_chr16_56956950_56988845 | 56959989 | A | AAGAAAGA others(17): Show |
upstream_gene_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0084 | 1 | 404 | 0.0025 | 24 | c.-19 others(35): Show |
CETP | ENSG00000087237.12 | transcript | ENST00000200676.8 | protein_coding | 1960 | chr16 | TogoVar | |||||||
CETP_chr16_56956950_56988845 | 56959997 | A | AAGAAAGA others(17): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 NA19003.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0007 a0002c0002t0002g0140 |
2 | 198 | 0.0101 | 24 | c.-19 others(35): Show |
CETP | ENSG00000087237.12 | transcript | ENST00000200676.8 | protein_coding | 1952 | chr16 | TogoVar | |||||||
CETP_chr16_56956950_56988845 | 56982503 | T | TTTGGTGT others(17): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 460 | 0.0022 | 24 | c.132 others(41): Show |
CETP | ENSG00000087237.12 | transcript | ENST00000200676.8 | protein_coding | 14/15 | chr16 | TogoVar | |||||||
CFAP206_chr6_87402972_87469465 | 87447951 | T | TTTATTAT others(17): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01074.hp2 HG01884.hp2 others(14): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0233 a0001c0001t0001g0308 a0001c0001t0001g0332 others(13): Show |
17 | 163 | 0.1043 | 24 | c.149 others(45): Show |
CFAP206 | ENSG00000272514.6 | transcript | ENST00000369562.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58990754 | G | GGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0201 | 1 | 129 | 0.0078 | 24 | c.278 others(43): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 4/16 | chr3 | TogoVar | |||||||
CFAP210_chr2_169640425_169699405 | 169653029 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0124 | 1 | 203 | 0.0049 | 24 | c.959 others(41): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
CFAP221_chr2_119539449_119661661 | 119628294 | G | GGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 28 | 0.0357 | 24 | c.165 others(41): Show |
CFAP221 | ENSG00000163075.13 | transcript | ENST00000413369.8 | protein_coding | 16/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CFAP251_chr12_121913592_122008919 | 121928674 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02040.hp2 NA18944.hp1 others(14): Show |
a0001 | a0001c0004a0001c0008 | a0001c0004t0001a0001c0008t0001 | a0001c0004t0001g0107 a0001c0004t0001g0109 a0001c0004t0001g0110 others(13): Show |
17 | 326 | 0.0521 | 24 | c.748 others(41): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP276_chr1_109100951_109117747 | 109113392 | C | CAGAGAGA others(17): Show |
upstream_gene_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 357 | 0.0028 | 24 | c.-71 others(33): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 646 | chr1 | TogoVar | |||||||
CFAP276_chr1_109100951_109117747 | 109113451 | A | AGAGAGAG others(17): Show |
upstream_gene_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 275 | 0.0036 | 24 | c.-77 others(33): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 705 | chr1 | TogoVar | |||||||
CFAP276_chr1_109100951_109117747 | 109113451 | A | AGAGAGAG others(17): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG01884.hp1 NA19065.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0042 |
4 | 278 | 0.0144 | 24 | c.-77 others(33): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 705 | chr1 | TogoVar | |||||||
CFAP298_chr21_32594354_32617377 | 32611318 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0081 | 1 | 374 | 0.0027 | 24 | c.139 others(39): Show |
CFAP298 | ENSG00000159079.19 | transcript | ENST00000290155.8 | protein_coding | 1/6 | chr21 | TogoVar | |||||||
CFAP298_chr21_32594354_32617377 | 32611338 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02622.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0047 a0001c0001t0010g0189 |
3 | 400 | 0.0075 | 24 | c.139 others(39): Show |
CFAP298 | ENSG00000159079.19 | transcript | ENST00000290155.8 | protein_coding | 1/6 | chr21 | TogoVar | |||||||
CFAP299_chr4_80330730_80968750 | 80364089 | A | AACACACA others(17): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00738.hp2 HG01168.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0004t0001a0002c0002t0001 | a0001c0001t0001g0023 a0001c0001t0001g0039 a0001c0001t0001g0060 others(9): Show |
12 | 31 | 0.3871 | 24 | c.242 others(41): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80581453 | G | GATATATA others(17): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01109.hp2 NA19091.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0014 a0001c0001t0001g0041 a0001c0003t0001g0035 |
3 | 6 | 0.5000 | 24 | c.243 others(41): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80661289 | G | GCACTCTA others(17): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0071 | 1 | 96 | 0.0104 | 24 | c.333 others(43): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80669145 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 52 | 0.0192 | 24 | c.333 others(43): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |