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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP83_chr12_94302698_94464867 | 94376732 | CATATAT | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG01106.hp1 others(19): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002 | a0001c0003t0001g0060 a0001c0003t0001g0072 a0001c0003t0001g0073 others(19): Show |
22 | 364 | 0.0604 | -6 | c.802 others(21): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 7/16 | chr12 | TogoVar | |||||||
CEP83_chr12_94302698_94464867 | 94402917 | ATAAAAT | A | intron_variant | MODIFIER | HG01109.hp2 HG02451.hp2 HG02717.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 a0001c0001t0001g0095 a0001c0001t0001g0096 others(4): Show |
7 | 364 | 0.0192 | -6 | c.417 others(21): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 5/16 | chr12 | TogoVar | |||||||
CEP83_chr12_94302698_94464867 | 94413825 | TACACAC | T | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG01978.hp1 others(24): Show |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0212 a0001c0001t0001g0242 a0001c0001t0001g0246 others(24): Show |
27 | 364 | 0.0742 | -6 | c.-10 others(25): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 2/16 | chr12 | TogoVar | |||||||
CEP83_chr12_94302698_94464867 | 94416571 | CACAAAA | C | intron_variant | MODIFIER | HG02273.hp2 NA18952.hp2 NA18997.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0328 a0001c0001t0004g0329 a0001c0001t0006g0004 others(3): Show |
6 | 364 | 0.0165 | -6 | c.-10 others(25): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 2/16 | chr12 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118491194 | TATACAC | T | intron_variant | MODIFIER | HG02486.hp2 HG02976.hp1 NA18522.hp1 |
a0002a0007 | a0002c0002a0007c0007 | a0002c0002t0002a0007c0007t0019a0007c0007t0020 | a0002c0002t0002g0239 a0007c0007t0019g0299 a0007c0007t0020g0176 |
3 | 302 | 0.0099 | -6 | c.143 others(23): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 6/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118491196 | TACACAC | T | intron_variant | MODIFIER | HG00423.hp1 HG01074.hp2 HG02109.hp2 others(10): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0010a0004c0004t0006 | a0001c0001t0001g0070 a0001c0001t0001g0143 a0001c0001t0010g0075 others(10): Show |
13 | 302 | 0.0431 | -6 | c.143 others(23): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 6/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118519432 | CTGTGTG | C | intron_variant | MODIFIER | HG01081.hp2 HG01255.hp2 HG01515.hp1 others(18): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0010a0001c0001t0023a0003c0003t0003others(3): Show | a0001c0001t0010g0074 a0001c0001t0010g0075 a0001c0001t0010g0076 others(18): Show |
21 | 302 | 0.0695 | -6 | c.113 others(25): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 4/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118527002 | CTTTTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG00639.hp1 others(46): Show |
a0003a0005a0011others(1): Show | a0003c0003a0005c0005a0011c0010others(1): Show | a0003c0003t0003a0003c0003t0016a0005c0005t0008others(3): Show | a0003c0003t0003g0001 a0003c0003t0003g0002 a0003c0003t0003g0003 others(46): Show |
49 | 302 | 0.1623 | -6 | c.102 others(25): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 3/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118558626 | TACACAC | T | intron_variant | MODIFIER | HG00621.hp1 HG02155.hp2 HG02717.hp2 others(3): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0005 | a0001c0001t0001a0003c0003t0003a0005c0005t0008others(1): Show | a0001c0001t0001g0132 a0003c0003t0003g0008 a0005c0005t0008g0252 others(3): Show |
6 | 302 | 0.0199 | -6 | c.102 others(25): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 3/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118567209 | ATGTGTG | A | intron_variant | MODIFIER | HG00733.hp2 HG02622.hp2 HG02683.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0012 | a0001c0001t0001a0001c0001t0010a0002c0002t0002others(2): Show | a0001c0001t0001g0056 a0001c0001t0001g0073 a0001c0001t0001g0155 others(6): Show |
9 | 302 | 0.0298 | -6 | c.233 others(21): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118569341 | CAAAAAA | C | intron_variant | MODIFIER | HG02258.hp2 HG02559.hp1 HG02723.hp1 others(3): Show |
a0003a0005a0012 | a0003c0003a0005c0005a0012c0011 | a0003c0003t0003a0005c0005t0008a0012c0011t0008 | a0003c0003t0003g0037 a0005c0005t0008g0295 a0005c0005t0008g0296 others(3): Show |
6 | 302 | 0.0199 | -6 | c.233 others(23): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118600300 | GGTGTGT | G | intron_variant | MODIFIER | HG01081.hp2 HG01258.hp2 HG02040.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0136 a0001c0001t0001g0152 a0001c0001t0001g0154 others(2): Show |
5 | 302 | 0.0166 | -6 | c.232 others(25): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118653749 | ATGTGTG | A | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01175.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0195 a0002c0002t0002g0233 a0002c0002t0002g0234 others(2): Show |
5 | 302 | 0.0166 | -6 | c.-24 others(17): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2159 | chr6 | TogoVar | |||||||
CEP85_chr1_26229200_26283808 | 26282386 | GCCGGGA | G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(27): Show |
a0001a0003a0010 | a0001c0001a0003c0003a0003c0005others(3): Show | a0001c0001t0003a0003c0003t0004a0003c0003t0006others(4): Show | a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 others(27): Show |
30 | 342 | 0.0877 | -6 | c.*50 others(17): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 3579 | chr1 | TogoVar | |||||||
CEP89_chr19_32870925_32976958 | 32892202 | CATATAT | C | intron_variant | MODIFIER | HG00735.hp1 HG01167.hp1 HG01169.hp1 others(17): Show |
a0001a0003a0005others(1): Show | a0001c0004a0003c0003a0005c0006others(1): Show | a0001c0004t0001a0003c0003t0003a0003c0003t0013others(2): Show | a0001c0004t0001g0075 a0001c0004t0001g0175 a0001c0004t0001g0177 others(16): Show |
20 | 386 | 0.0518 | -6 | c.187 others(25): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 16/18 | chr19 | TogoVar | |||||||
CEP89_chr19_32870925_32976958 | 32902010 | CTGTGTG | C | intron_variant | MODIFIER | HG02630.hp2 HG02809.hp2 HG03195.hp1 others(13): Show |
a0002a0008 | a0002c0001a0002c0025a0008c0011 | a0002c0001t0002a0002c0001t0019a0002c0025t0002others(1): Show | a0002c0001t0002g0005 a0002c0001t0002g0163 a0002c0001t0002g0322 others(12): Show |
16 | 386 | 0.0415 | -6 | c.156 others(23): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 14/18 | chr19 | TogoVar | |||||||
CEP89_chr19_32870925_32976958 | 32913301 | ATATATT | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00738.hp2 others(20): Show |
a0003a0004 | a0003c0010a0004c0005 | a0003c0010t0002a0004c0005t0005a0004c0005t0014others(3): Show | a0003c0010t0002g0105 a0004c0005t0005g0097 a0004c0005t0005g0098 others(20): Show |
23 | 386 | 0.0596 | -6 | c.156 others(25): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 14/18 | chr19 | TogoVar | |||||||
CEP89_chr19_32870925_32976958 | 32963892 | CCACACA | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(85): Show |
a0002a0010a0012 | a0002c0001a0002c0025a0010c0024others(1): Show | a0002c0001t0001a0002c0001t0002a0002c0001t0008others(6): Show | a0002c0001t0001g0332 a0002c0001t0001g0350 a0002c0001t0002g0004 others(83): Show |
88 | 386 | 0.2280 | -6 | c.146 others(23): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 2/18 | chr19 | TogoVar | |||||||
CEP89_chr19_32870925_32976958 | 32963941 | AACACAC | A | intron_variant | MODIFIER | HG00280.hp1 HG01081.hp2 HG01175.hp1 others(13): Show |
a0001a0002a0003others(3): Show | a0001c0002a0002c0001a0002c0025others(4): Show | a0001c0002t0001a0001c0002t0018a0002c0001t0002others(8): Show | a0001c0002t0001g0022 a0001c0002t0001g0024 a0001c0002t0018g0023 others(13): Show |
16 | 386 | 0.0415 | -6 | c.146 others(23): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 2/18 | chr19 | TogoVar | |||||||
CEP89_chr19_32870925_32976958 | 32972710 | CTTTTCT | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00738.hp2 others(29): Show |
a0003a0004a0006 | a0003c0010a0004c0005a0006c0008 | a0003c0010t0002a0004c0005t0005a0004c0005t0014others(3): Show | a0003c0010t0002g0105 a0004c0005t0005g0097 a0004c0005t0005g0098 others(29): Show |
32 | 386 | 0.0829 | -6 | c.-84 others(15): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 753 | chr19 | TogoVar | |||||||
CEP95_chr17_64501977_64542946 | 64522979 | CGTGTGT | C | intron_variant | MODIFIER | HG00558.hp2 HG01070.hp1 HG01071.hp1 others(27): Show |
a0001a0004a0007 | a0001c0001a0004c0004a0007c0007 | a0001c0001t0002a0004c0004t0002a0007c0007t0002 | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0008 others(12): Show |
30 | 248 | 0.1210 | -6 | c.909 others(19): Show |
CEP95 | ENSG00000258890.8 | transcript | ENST00000556440.7 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CEP95_chr17_64501977_64542946 | 64527866 | GTGTGTA | G | intron_variant | MODIFIER | HG00558.hp2 HG01070.hp1 HG01071.hp1 others(29): Show |
a0001a0004a0006 | a0001c0001a0004c0004a0006c0003 | a0001c0001t0002a0004c0004t0002a0006c0003t0002 | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0008 others(13): Show |
32 | 248 | 0.1290 | -6 | c.130 others(23): Show |
CEP95 | ENSG00000258890.8 | transcript | ENST00000556440.7 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CEP95_chr17_64501977_64542946 | 64540759 | GTATATA | G | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02055.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 a0001c0001t0002g0017 a0001c0001t0002g0040 others(1): Show |
13 | 248 | 0.0524 | -6 | c.*29 others(17): Show |
CEP95 | ENSG00000258890.8 | transcript | ENST00000556440.7 | protein_coding | 2814 | chr17 | TogoVar | |||||||
CER1_chr9_14714724_14727733 | 14723164 | TCACACA | T | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02572.hp1 HG02615.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(1): Show | a0001c0001t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0009 others(4): Show |
9 | 460 | 0.0196 | -6 | c.-49 others(15): Show |
CER1 | ENSG00000147869.5 | transcript | ENST00000380911.4 | protein_coding | 432 | chr9 | TogoVar | |||||||
CERCAM_chr9_128415857_128442347 | 128437409 | GTGTATA | G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG01069.hp1 HG01071.hp1 others(18): Show |
a0001a0005 | a0001c0001a0005c0014 | a0001c0001t0001a0005c0014t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(13): Show |
21 | 400 | 0.0525 | -6 | c.*56 others(15): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 63 | chr9 | TogoVar | |||||||
CERCAM_chr9_128415857_128442347 | 128437437 | ATATATG | A | downstream_gene_variant | MODIFIER | HG01099.hp2 HG01109.hp1 HG02717.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0044 a0001c0003t0001g0134 a0001c0003t0001g0195 others(2): Show |
5 | 400 | 0.0125 | -6 | c.*59 others(15): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 91 | chr9 | TogoVar | |||||||
CERCAM_chr9_128415857_128442347 | 128437858 | TATACAC | T | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02145.hp2 HG02559.hp1 others(9): Show |
a0001a0002 | a0001c0003a0001c0011a0002c0004others(1): Show | a0001c0003t0003a0001c0011t0002a0002c0004t0002others(1): Show | a0001c0003t0003g0198 a0001c0011t0002g0189 a0002c0004t0002g0192 others(5): Show |
12 | 400 | 0.0300 | -6 | c.*10 others(17): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 512 | chr9 | TogoVar | |||||||
CERKL_chr2_181531672_181662105 | 181576319 | ATATTCT | A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(135): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0010others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(25): Show | a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0159 others(134): Show |
138 | 298 | 0.4631 | -6 | c.482 others(23): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
CERKL_chr2_181531672_181662105 | 181641340 | TATATAC | T | intron_variant | MODIFIER | HG02572.hp1 HG02735.hp2 HG03098.hp2 |
a0001a0004 | a0001c0002a0004c0008 | a0001c0002t0003a0004c0008t0001 | a0001c0002t0003g0010 a0004c0008t0001g0016 a0004c0008t0001g0017 |
3 | 298 | 0.0101 | -6 | c.238 others(25): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
CERK_chr22_46679410_46743252 | 46702221 | ATATGTG | A | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02602.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005a0001c0012 | a0001c0001t0006a0001c0005t0003a0001c0012t0002 | a0001c0001t0006g0230 a0001c0005t0003g0167 a0001c0005t0003g0168 others(1): Show |
4 | 340 | 0.0118 | -6 | c.716 others(21): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 6/12 | chr22 | TogoVar | |||||||
CERK_chr22_46679410_46743252 | 46702223 | ATGTGTG | A | intron_variant | MODIFIER | HG02622.hp2 HG02723.hp1 HG02896.hp1 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0006a0001c0001t0008a0001c0001t0063others(2): Show | a0001c0001t0006g0288 a0001c0001t0008g0043 a0001c0001t0063g0319 others(3): Show |
7 | 340 | 0.0206 | -6 | c.716 others(21): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 6/12 | chr22 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100397011 | TACACAC | T | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG00735.hp2 others(16): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0017others(9): Show | a0001c0001t0001g0141 a0001c0001t0004g0067 a0001c0001t0004g0290 others(16): Show |
19 | 362 | 0.0525 | -6 | c.*56 others(17): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 3383 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100397037 | CACACAA | C | downstream_gene_variant | MODIFIER | HG01361.hp1 HG03927.hp2 NA18945.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0013a0001c0003t0007a0001c0003t0016 | a0001c0001t0013g0012 a0001c0001t0013g0173 a0001c0001t0013g0176 others(10): Show |
13 | 362 | 0.0359 | -6 | c.*56 others(17): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 3357 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100467739 | CTATCAT | C | intron_variant | MODIFIER | HG00140.hp1 HG00741.hp1 HG01256.hp2 others(5): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0002a0001c0001t0018a0004c0005t0002 | a0001c0001t0002g0020 a0001c0001t0002g0083 a0001c0001t0002g0084 others(5): Show |
8 | 362 | 0.0221 | -6 | c.845 others(23): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 10/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100494253 | ATATATT | A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0003t0012others(2): Show | a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0196 others(8): Show |
11 | 362 | 0.0304 | -6 | c.174 others(23): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 3/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100497852 | TACACAC | T | intron_variant | MODIFIER | HG00323.hp1 HG02004.hp2 HG02015.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0188 others(19): Show |
22 | 362 | 0.0608 | -6 | c.173 others(23): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 3/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100518229 | TAGACAA | T | intron_variant | MODIFIER | HG02559.hp2 HG02818.hp1 HG02895.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0012a0001c0003t0022a0001c0003t0037 | a0001c0003t0012g0348 a0001c0003t0012g0349 a0001c0003t0012g0351 others(3): Show |
6 | 362 | 0.0166 | -6 | c.-2+ others(21): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 2/11 | chr15 | TogoVar | |||||||
CERS4_chr19_8204370_8267421 | 8236696 | AAAAAAG | A | intron_variant | MODIFIER | HG02071.hp1 HG02976.hp1 HG03195.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0007others(1): Show | a0001c0001t0002a0001c0001t0012a0002c0003t0001others(3): Show | a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0222 others(6): Show |
9 | 418 | 0.0215 | -6 | c.-1- others(23): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8245902 | CAAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp2 others(85): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(10): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0002g0137 a0001c0001t0002g0244 a0001c0001t0002g0257 others(85): Show |
88 | 418 | 0.2105 | -6 | c.-1- others(21): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8252442 | CTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(74): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(13): Show | a0001c0001t0002g0223 a0001c0001t0002g0270 a0001c0001t0003g0036 others(74): Show |
77 | 418 | 0.1842 | -6 | c.173 others(23): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8266863 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG01261.hp2 HG02257.hp1 HG02280.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0012a0002c0003 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(2): Show | a0001c0001t0001g0117 a0001c0001t0007g0121 a0001c0001t0007g0383 others(5): Show |
8 | 418 | 0.0191 | -6 | c.*47 others(17): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4443 | chr19 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50128154 | TTTTTTC | T | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02572.hp2 HG02622.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0196 a0001c0001t0006g0197 a0001c0001t0006g0198 others(4): Show |
7 | 320 | 0.0219 | -6 | c.*23 others(17): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1134 | chr12 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50135308 | AGTGTGT | A | intron_variant | MODIFIER | HG02074.hp2 HG02132.hp1 HG02258.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0005a0001c0002t0002a0002c0003t0003 | a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0002t0002g0239 others(4): Show |
7 | 320 | 0.0219 | -6 | c.872 others(21): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 8/9 | chr12 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50148923 | AAAAAAT | A | intron_variant | MODIFIER | HG00621.hp2 HG00738.hp2 HG01175.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(2): Show | a0001c0001t0001g0105 a0001c0001t0001g0116 a0001c0001t0001g0129 others(9): Show |
12 | 320 | 0.0375 | -6 | c.198 others(23): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168477173 | CAGAGAG | C | intron_variant | MODIFIER | HG00280.hp1 HG01074.hp2 HG01099.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0035 a0001c0001t0002g0016 a0001c0001t0002g0017 others(22): Show |
25 | 176 | 0.1421 | -6 | c.170 others(25): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168511950 | GCACACA | G | intron_variant | MODIFIER | HG03041.hp1 HG03098.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0009a0001c0001t0038 | a0001c0001t0006g0116 a0001c0001t0009g0002 a0001c0001t0038g0115 |
3 | 176 | 0.0171 | -6 | c.171 others(25): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168552349 | TACACAC | T | intron_variant | MODIFIER | HG00280.hp1 HG01261.hp2 HG02129.hp2 others(6): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(6): Show | a0001c0001t0001g0037 a0001c0001t0005g0020 a0001c0001t0007g0051 others(6): Show |
9 | 176 | 0.0511 | -6 | c.276 others(23): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168554236 | TATAATC | T | intron_variant | MODIFIER | HG01099.hp2 HG01256.hp2 HG01261.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(5): Show | a0001c0001t0001g0035 a0001c0001t0002g0036 a0001c0001t0008g0165 others(7): Show |
10 | 176 | 0.0568 | -6 | c.276 others(23): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168555722 | CTGTGTG | C | intron_variant | MODIFIER | HG00609.hp2 NA18945.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005 | a0001c0001t0002g0100 a0001c0001t0003g0118 a0001c0001t0005g0102 |
3 | 176 | 0.0171 | -6 | c.277 others(23): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168574370 | TTGTGTG | T | intron_variant | MODIFIER | HG02630.hp1 HG02647.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0014 | a0001c0001t0010g0004 a0001c0001t0014g0078 a0001c0001t0014g0176 |
3 | 176 | 0.0171 | -6 | c.407 others(25): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |