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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP72_chr5_607340_658553 | 649865 | C | CTGTGAGG others(8): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0078 | 1 | 91 | 0.0110 | 15 | c.177 others(34): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CEP76_chr18_12667625_12707723 | 12683186 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03579.hp1 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0051a0001c0001t0003g0280 | 2 | 380 | 0.0053 | 15 | c.112 others(34): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 8/11 | chr18 | TogoVar | ||||||
CEP83_chr12_94302698_94464867 | 94343470 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0003 | a0003c0005 | a0003c0005t0005 | a0003c0005t0005g0360 | 1 | 364 | 0.0028 | 15 | c.134 others(34): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 11/16 | chr12 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118496356 | T | TTTTTATT others(8): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00735.hp2 HG02129.hp1 others(15): Show |
a0002a0003a0007 | a0002c0002a0003c0003a0007c0007 | a0002c0002t0002a0002c0002t0014a0003c0003t0002others(2): Show | a0002c0002t0002g0173a0002c0002t0002g0179a0002c0002t0002g0188others(15): Show | 18 | 302 | 0.0596 | 15 | c.125 others(34): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 5/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118519473 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0002 | a0002c0002 | a0002c0002t0030 | a0002c0002t0030g0182 | 1 | 302 | 0.0033 | 15 | c.113 others(34): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 4/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118519474 | G | GTGTGTGT others(8): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0209 | 1 | 302 | 0.0033 | 15 | c.113 others(34): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 4/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118542900 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG01069.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0201a0002c0002t0002g0215a0002c0002t0002g0221others(4): Show | 7 | 302 | 0.0232 | 15 | c.102 others(36): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 3/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118600294 | C | CTGGGGGG others(8): Show |
intron_variant | MODIFIER | HG02572.hp2 NA19077.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0179a0002c0002t0002g0193 | 2 | 302 | 0.0066 | 15 | c.232 others(34): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118600300 | G | GGGGGGGT others(8): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0258 | 1 | 302 | 0.0033 | 15 | c.232 others(34): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118600300 | G | GTGTGTGT others(8): Show |
intron_variant | MODIFIER | HG04184.hp2 NA18974.hp2 |
a0001a0010 | a0001c0001a0010c0010 | a0001c0001t0001a0010c0010t0003 | a0001c0001t0001g0170a0010c0010t0003g0015 | 2 | 302 | 0.0066 | 15 | c.232 others(34): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85_chr1_26229200_26283808 | 26248722 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0112 | 1 | 342 | 0.0029 | 15 | c.208 others(32): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP85_chr1_26229200_26283808 | 26256928 | G | GTGTGTGT others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG01081.hp1 others(38): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0007 | a0001c0001t0001g0181a0001c0001t0001g0182a0001c0001t0001g0183others(37): Show | 41 | 342 | 0.1199 | 15 | c.904 others(30): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 4/13 | chr1 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32899581 | C | CAATCTAC others(8): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp1 |
a0004 | a0004c0006 | a0004c0006t0007 | a0004c0006t0007g0129a0004c0006t0007g0134 | 2 | 386 | 0.0052 | 15 | c.187 others(32): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 16/18 | chr19 | TogoVar | ||||||
CEPT1_chr1_111135223_111190104 | 111149266 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG02572.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051a0001c0001t0001g0264a0001c0001t0001g0265others(5): Show | 9 | 410 | 0.0220 | 15 | c.339 others(32): Show |
CEPT1 | ENSG00000134255.16 | transcript | ENST00000357172.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEPT1_chr1_111135223_111190104 | 111154187 | G | GTATTTTA others(8): Show |
intron_variant | MODIFIER | HG00408.hp2 NA18956.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152a0001c0001t0001g0163 | 2 | 410 | 0.0049 | 15 | c.340 others(32): Show |
CEPT1 | ENSG00000134255.16 | transcript | ENST00000357172.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CERCAM_chr9_128415857_128442347 | 128416839 | G | GACTTTGT others(8): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 HG02040.hp2 NA18612.hp2 others(9): Show |
a0001a0008 | a0001c0001a0008c0021 | a0001c0001t0001a0008c0021t0001 | a0001c0001t0001g0002a0001c0001t0001g0021a0001c0001t0001g0100others(4): Show | 12 | 400 | 0.0300 | 15 | c.-40 others(26): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 4017 | chr9 | TogoVar | ||||||
CERCAM_chr9_128415857_128442347 | 128416841 | C | CTTTGTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG01109.hp1 HG01109.hp2 others(14): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0011others(2): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0003others(3): Show | a0001c0002t0001g0043a0001c0003t0001g0044a0001c0003t0001g0187others(12): Show | 17 | 400 | 0.0425 | 15 | c.-40 others(26): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 4015 | chr9 | TogoVar | ||||||
CERKL_chr2_181531672_181662105 | 181599535 | T | TCAAAACA others(8): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG00673.hp1 others(50): Show |
a0002 | a0002c0003a0002c0004a0002c0009 | a0002c0003t0001a0002c0003t0002a0002c0003t0003others(11): Show | a0002c0003t0001g0103a0002c0003t0002g0125a0002c0003t0003g0108others(50): Show | 53 | 298 | 0.1779 | 15 | c.481 others(32): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
CERK_chr22_46679410_46743252 | 46692426 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0005 | a0001c0005t0029 | a0001c0005t0029g0295 | 1 | 340 | 0.0029 | 15 | c.112 others(32): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 10/12 | chr22 | TogoVar | ||||||
CERS3_chr15_100395395_100533950 | 100413510 | G | GACTATAC others(8): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0186 | 1 | 362 | 0.0028 | 15 | c.100 others(36): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 11/11 | chr15 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8214975 | A | AAGGAAGA others(8): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp1 others(61): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(10): Show | a0001c0001t0001g0202a0001c0001t0001g0204a0001c0001t0001g0205others(61): Show | 64 | 418 | 0.1531 | 15 | c.-2+ others(30): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CERS4_chr19_8204370_8267421 | 8231851 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02895.hp1 |
a0003 | a0003c0004a0003c0014 | a0003c0004t0001a0003c0014t0001 | a0003c0004t0001g0106a0003c0014t0001g0406 | 2 | 418 | 0.0048 | 15 | c.-1- others(32): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CERS4_chr19_8204370_8267421 | 8267294 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG02523.hp2 NA18956.hp2 NA18964.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0004others(2): Show | a0001c0001t0002g0140a0001c0001t0002g0218a0001c0001t0003g0148others(8): Show | 12 | 418 | 0.0287 | 15 | c.*51 others(26): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4874 | chr19 | TogoVar | ||||||
CERS5_chr12_50124289_50172369 | 50148925 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | NA18981.hp2 NA19058.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0286a0001c0002t0002g0299 | 2 | 320 | 0.0063 | 15 | c.198 others(32): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | ||||||
CERS5_chr12_50124289_50172369 | 50148927 | A | AAATATAT others(8): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0278 | 1 | 320 | 0.0031 | 15 | c.198 others(32): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | ||||||
CERS5_chr12_50124289_50172369 | 50161784 | G | GAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00621.hp1 others(54): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0014a0001c0001t0001g0072a0001c0001t0001g0077others(54): Show | 57 | 320 | 0.1781 | 15 | c.197 others(32): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168455505 | T | TATCATCA others(8): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01261.hp1 others(32): Show |
a0001a0002a0004 | a0001c0001a0002c0005a0004c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0025a0001c0001t0001g0027a0001c0001t0001g0037others(32): Show | 35 | 176 | 0.1989 | 15 | c.-94 others(24): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 766 | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168486518 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 176 | 0.0057 | 15 | c.170 others(34): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168520598 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0079 | 1 | 176 | 0.0057 | 15 | c.171 others(34): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERT1_chr5_75372775_75516629 | 75393602 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01516.hp1 NA18954.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0193a0001c0001t0002g0217 | 2 | 336 | 0.0060 | 15 | c.118 others(34): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 11/16 | chr5 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75421034 | C | CCTGAGCT others(8): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0293 | 1 | 336 | 0.0030 | 15 | c.596 others(32): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 5/16 | chr5 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75509614 | G | GAAAAGAG others(8): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0307 | 1 | 336 | 0.0030 | 15 | c.96+ others(30): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 1/16 | chr5 | TogoVar | ||||||
CES5A_chr16_55841154_55880373 | 55854527 | G | GTTTCTTT others(8): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 HG02165.hp2 others(16): Show |
a0001a0008a0011others(2): Show | a0001c0002a0001c0010a0008c0009others(3): Show | a0001c0002t0005a0001c0010t0002a0001c0010t0003others(6): Show | a0001c0002t0005g0186a0001c0010t0002g0026a0001c0010t0003g0002others(12): Show | 19 | 449 | 0.0423 | 15 | c.112 others(34): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 9/12 | chr16 | TogoVar | ||||||
CES5A_chr16_55841154_55880373 | 55854531 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA19000.hp1 NA19081.hp1 |
a0004a0009 | a0004c0006a0009c0012 | a0004c0006t0005a0009c0012t0001 | a0004c0006t0005g0159a0009c0012t0001g0387 | 2 | 449 | 0.0045 | 15 | c.112 others(34): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 9/12 | chr16 | TogoVar | ||||||
CETP_chr16_56956950_56988845 | 56960004 | A | AAAGAAAG others(8): Show |
upstream_gene_variant | MODIFIER | NA18991.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0253 | 1 | 462 | 0.0022 | 15 | c.-19 others(26): Show |
CETP | ENSG00000087237.12 | transcript | ENST00000200676.8 | protein_coding | 1945 | chr16 | TogoVar | ||||||
CFAP100_chr3_126389909_126441556 | 126420844 | C | CTTATTGG others(8): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(112): Show |
a0001a0004a0005others(5): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(14): Show | a0001c0001t0001g0014a0001c0001t0001g0150a0001c0001t0002g0198others(100): Show | 115 | 422 | 0.2725 | 15 | c.108 others(32): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 11/16 | chr3 | TogoVar | ||||||
CFAP157_chr9_127701988_127721002 | 127720881 | T | TCCCCTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG02135.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0014 | 1 | 354 | 0.0028 | 15 | c.*69 others(26): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4880 | chr9 | TogoVar | ||||||
CFAP206_chr6_87402972_87469465 | 87447951 | T | TATATTAT others(8): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 | 1 | 376 | 0.0027 | 15 | c.149 others(36): Show |
CFAP206 | ENSG00000272514.6 | transcript | ENST00000369562.9 | protein_coding | 11/12 | chr6 | TogoVar | ||||||
CFAP206_chr6_87402972_87469465 | 87447951 | T | TTTATTAT others(8): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01109.hp2 HG02717.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0317a0001c0001t0001g0318a0001c0001t0001g0319others(5): Show | 8 | 376 | 0.0213 | 15 | c.149 others(36): Show |
CFAP206 | ENSG00000272514.6 | transcript | ENST00000369562.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CFAP20DC_chr3_58737008_59055025 | 58931654 | A | AGGCAAAT others(8): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00639.hp1 others(49): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0011 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0037a0001c0001t0001g0076a0001c0001t0001g0120others(49): Show | 52 | 204 | 0.2549 | 15 | c.393 others(32): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 5/16 | chr3 | TogoVar | ||||||
CFAP20_chr16_58108592_58134381 | 58114525 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0127 | 1 | 400 | 0.0025 | 15 | c.576 others(30): Show |
CFAP20 | ENSG00000070761.8 | transcript | ENST00000262498.8 | protein_coding | 5/5 | chr16 | TogoVar | ||||||
CFAP251_chr12_121913592_122008919 | 121921491 | G | GGAGGAGG others(8): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(301): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0021a0002c0004others(18): Show | a0001c0001t0001a0001c0021t0001a0002c0004t0001others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0111a0001c0001t0001g0112others(299): Show | 304 | 354 | 0.8588 | 15 | c.196 others(22): Show |
p.Glu others(26): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 2/22 | 321/3729 | 197/3450 | 66/1149 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
CFAP251_chr12_121913592_122008919 | 121952240 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02135.hp2 HG02738.hp1 NA18961.hp2 others(1): Show |
a0004 | a0004c0002 | a0004c0002t0001 | a0004c0002t0001g0036a0004c0002t0001g0044a0004c0002t0001g0049others(1): Show | 4 | 354 | 0.0113 | 15 | c.132 others(32): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121966176 | C | CCCCTCCC others(8): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01106.hp1 HG03490.hp2 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0089a0003c0003t0001g0100a0003c0003t0001g0102others(3): Show | 6 | 354 | 0.0170 | 15 | c.249 others(32): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121966226 | C | CCCCTCCC others(8): Show |
intron_variant | MODIFIER | NA18942.hp1 NA18978.hp1 NA18999.hp1 others(2): Show |
a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0058a0003c0009t0001g0059a0003c0009t0001g0061others(2): Show | 5 | 354 | 0.0141 | 15 | c.249 others(32): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121978393 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG01167.hp1 others(6): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0057a0003c0003t0001g0093a0003c0003t0001g0095others(6): Show | 9 | 354 | 0.0254 | 15 | c.300 others(34): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP276_chr1_109100951_109117747 | 109113398 | G | GAGAGAGA others(8): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 NA18948.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0012 | 2 | 404 | 0.0050 | 15 | c.-73 others(24): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 652 | chr1 | TogoVar | ||||||
CFAP276_chr1_109100951_109117747 | 109113416 | A | AGAGAGAG others(8): Show |
upstream_gene_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 404 | 0.0025 | 15 | c.-73 others(24): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 670 | chr1 | TogoVar | ||||||
CFAP276_chr1_109100951_109117747 | 109113451 | A | AGAGAGAG others(8): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 404 | 0.0025 | 15 | c.-77 others(24): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 705 | chr1 | TogoVar | ||||||
CFAP298_chr21_32594354_32617377 | 32598545 | C | CTTCTTCT others(8): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0196 | 1 | 416 | 0.0024 | 15 | c.*33 others(26): Show |
CFAP298 | ENSG00000159079.19 | transcript | ENST00000290155.8 | protein_coding | 808 | chr21 | TogoVar |