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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP89_chr19_32870925_32976958 | 32892202 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00609.hp1 others(31): Show |
a0002a0003a0005others(4): Show | a0002c0001a0003c0003a0003c0021others(5): Show | a0002c0001t0002a0003c0003t0003a0003c0003t0041others(8): Show | a0002c0001t0002g0314 a0002c0001t0002g0349 a0003c0003t0003g0077 others(31): Show |
34 | 386 | 0.0881 | -10 | c.187 others(29): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 16/18 | chr19 | TogoVar | |||||||
CEP89_chr19_32870925_32976958 | 32910668 | AAATTTTT others(3): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(87): Show |
a0002a0003a0010others(1): Show | a0002c0001a0002c0025a0003c0003others(2): Show | a0002c0001t0001a0002c0001t0002a0002c0001t0008others(7): Show | a0002c0001t0001g0332 a0002c0001t0001g0350 a0002c0001t0002g0004 others(85): Show |
90 | 386 | 0.2332 | -10 | c.156 others(29): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 14/18 | chr19 | TogoVar | |||||||
CEP89_chr19_32870925_32976958 | 32913312 | TGTTGTTG others(3): Show |
T | intron_variant | MODIFIER | NA18950.hp2 NA18991.hp1 NA19091.hp2 |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0020 | a0002c0001t0002g0373 a0002c0001t0020g0337 a0002c0001t0020g0338 |
3 | 386 | 0.0078 | -10 | c.156 others(29): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 14/18 | chr19 | TogoVar | |||||||
CEP89_chr19_32870925_32976958 | 32951511 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG01515.hp2 HG01517.hp2 HG03540.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0003a0003c0003t0039 | a0003c0003t0003g0221 a0003c0003t0003g0244 a0003c0003t0003g0245 others(1): Show |
4 | 386 | 0.0104 | -10 | c.492 others(27): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 4/18 | chr19 | TogoVar | |||||||
CEP89_chr19_32870925_32976958 | 32956049 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00423.hp2 others(152): Show |
a0001a0003a0008others(5): Show | a0001c0002a0001c0016a0003c0003others(8): Show | a0001c0002t0001a0001c0002t0010a0001c0002t0017others(26): Show | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0016 others(148): Show |
155 | 386 | 0.4016 | -10 | c.306 others(27): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 3/18 | chr19 | TogoVar | |||||||
CEP89_chr19_32870925_32976958 | 32963892 | CCACACAC others(3): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG02615.hp2 NA21309.hp2 |
a0002a0003 | a0002c0001a0003c0019 | a0002c0001t0002a0002c0001t0028a0003c0019t0012 | a0002c0001t0002g0310 a0002c0001t0028g0148 a0003c0019t0012g0364 |
3 | 386 | 0.0078 | -10 | c.146 others(27): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 2/18 | chr19 | TogoVar | |||||||
CEP89_chr19_32870925_32976958 | 32963941 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG02055.hp2 HG02630.hp1 others(13): Show |
a0001a0003a0007others(1): Show | a0001c0002a0001c0004a0003c0003others(2): Show | a0001c0002t0010a0001c0004t0001a0003c0003t0003others(3): Show | a0001c0002t0010g0376 a0001c0002t0010g0377 a0001c0002t0010g0378 others(13): Show |
16 | 386 | 0.0415 | -10 | c.146 others(27): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 2/18 | chr19 | TogoVar | |||||||
CEP95_chr17_64501977_64542946 | 64540759 | GTATATAT others(3): Show |
G | downstream_gene_variant | MODIFIER | HG01346.hp2 HG02109.hp1 HG02258.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0036 others(5): Show |
9 | 248 | 0.0363 | -10 | c.*29 others(21): Show |
CEP95 | ENSG00000258890.8 | transcript | ENST00000556440.7 | protein_coding | 2814 | chr17 | TogoVar | |||||||
CEP97_chr3_101719614_101775562 | 101730228 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG01257.hp1 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0115 |
2 | 352 | 0.0057 | -10 | c.447 others(27): Show |
CEP97 | ENSG00000182504.12 | transcript | ENST00000341893.8 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CEP97_chr3_101719614_101775562 | 101730231 | TTTTTGTT others(3): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG01433.hp2 HG01975.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(2): Show | a0001c0001t0001g0234 a0001c0001t0002g0025 a0001c0001t0002g0207 others(10): Show |
14 | 352 | 0.0398 | -10 | c.447 others(27): Show |
CEP97 | ENSG00000182504.12 | transcript | ENST00000341893.8 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CEP97_chr3_101719614_101775562 | 101760022 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0316 | 1 | 352 | 0.0028 | -10 | c.181 others(29): Show |
CEP97 | ENSG00000182504.12 | transcript | ENST00000341893.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CEPT1_chr1_111135223_111190104 | 111154187 | GTATTTTA others(3): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG01071.hp2 others(41): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0017 a0001c0001t0001g0121 a0001c0001t0001g0175 others(32): Show |
44 | 410 | 0.1073 | -10 | c.340 others(27): Show |
CEPT1 | ENSG00000134255.16 | transcript | ENST00000357172.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CER1_chr9_14714724_14727733 | 14723164 | TCACACAC others(3): Show |
T | upstream_gene_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0009 | 1 | 460 | 0.0022 | -10 | c.-50 others(19): Show |
CER1 | ENSG00000147869.5 | transcript | ENST00000380911.4 | protein_coding | 432 | chr9 | TogoVar | |||||||
CERCAM_chr9_128415857_128442347 | 128416841 | CTTTGTTT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG03516.hp2 HG03540.hp2 |
a0002a0003 | a0002c0005a0003c0008 | a0002c0005t0002a0003c0008t0002 | a0002c0005t0002g0208 a0003c0008t0002g0211 |
2 | 400 | 0.0050 | -10 | c.-40 others(21): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 4015 | chr9 | TogoVar | |||||||
CERCAM_chr9_128415857_128442347 | 128437942 | CACACGTA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 400 | 0.0025 | -10 | c.*10 others(21): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 596 | chr9 | TogoVar | |||||||
CERCAM_chr9_128415857_128442347 | 128438036 | CACACACG others(3): Show |
C | downstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 400 | 0.0025 | -10 | c.*11 others(21): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 690 | chr9 | TogoVar | |||||||
CERCAM_chr9_128415857_128442347 | 128438062 | CACACGTA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 400 | 0.0025 | -10 | c.*12 others(21): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 716 | chr9 | TogoVar | |||||||
CERCAM_chr9_128415857_128442347 | 128438074 | CACGTATA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp2 others(130): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0004others(15): Show | a0001c0001t0002g0035 a0001c0001t0002g0040 a0001c0001t0002g0067 others(80): Show |
133 | 400 | 0.3325 | -10 | c.*12 others(21): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 728 | chr9 | TogoVar | |||||||
CERKL_chr2_181531672_181662105 | 181641336 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01099.hp1 HG01496.hp1 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003a0001c0002t0018others(1): Show | a0001c0002t0001g0029 a0001c0002t0003g0031 a0001c0002t0003g0032 others(7): Show |
10 | 298 | 0.0336 | -10 | c.238 others(29): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
CERKL_chr2_181531672_181662105 | 181650080 | AGGGAGGG others(3): Show |
A | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0175 | 1 | 298 | 0.0034 | -10 | c.238 others(27): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
CERK_chr22_46679410_46743252 | 46685510 | GGGCACAG others(3): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00733.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0019others(1): Show | a0001c0001t0010a0001c0001t0022a0001c0001t0044others(7): Show | a0001c0001t0010g0001 a0001c0001t0010g0005 a0001c0001t0010g0052 others(15): Show |
24 | 340 | 0.0706 | -10 | c.*16 others(21): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 13/13 | 1614 | chr22 | TogoVar | ||||||
CERK_chr22_46679410_46743252 | 46691042 | CATGTATA others(3): Show |
C | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0026 | a0001c0026t0017 | a0001c0026t0017g0276 | 1 | 340 | 0.0029 | -10 | c.133 others(27): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 11/12 | chr22 | TogoVar | |||||||
CERK_chr22_46679410_46743252 | 46702221 | ATATGTGT others(3): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0282 | 1 | 340 | 0.0029 | -10 | c.716 others(25): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 6/12 | chr22 | TogoVar | |||||||
CERK_chr22_46679410_46743252 | 46702223 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00673.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0011a0001c0002t0001others(2): Show | a0001c0001t0001g0099 a0001c0001t0001g0114 a0001c0001t0011g0198 others(4): Show |
7 | 340 | 0.0206 | -10 | c.716 others(25): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 6/12 | chr22 | TogoVar | |||||||
CERS1_chr19_18863545_18901158 | 18898167 | AGGCTTGG others(3): Show |
A | upstream_gene_variant | MODIFIER | NA20805.hp1 NA20805.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0011 a0001c0002t0001g0319 |
2 | 380 | 0.0053 | -10 | c.-21 others(21): Show |
CERS1 | ENSG00000223802.9 | transcript | ENST00000623882.4 | protein_coding | 2010 | chr19 | TogoVar | |||||||
CERS2_chr1_150960186_150979835 | 150970227 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA18973.hp1 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 | 2 | 382 | 0.0052 | -10 | c.-1- others(25): Show |
CERS2 | ENSG00000143418.20 | transcript | ENST00000368954.10 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100397011 | TACACACA others(3): Show |
T | downstream_gene_variant | MODIFIER | HG02040.hp2 NA18950.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0282 a0001c0001t0002g0283 |
2 | 362 | 0.0055 | -10 | c.*56 others(21): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 3383 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100397461 | AAGGAGAG others(3): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG01257.hp1 HG01258.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0004 | a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0141 others(14): Show |
17 | 362 | 0.0470 | -10 | c.*52 others(21): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 2933 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100405239 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG02027.hp1 HG02074.hp2 NA18968.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0087 a0001c0001t0002g0260 a0001c0001t0002g0261 others(3): Show |
6 | 362 | 0.0166 | -10 | c.100 others(29): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 11/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100413510 | GACTATAC others(3): Show |
G | intron_variant | MODIFIER | HG01106.hp2 HG01167.hp1 HG01169.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0017a0001c0003t0005others(3): Show | a0001c0001t0001g0123 a0001c0001t0001g0151 a0001c0001t0001g0270 others(7): Show |
10 | 362 | 0.0276 | -10 | c.100 others(31): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 11/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100467738 | GCTATCAT others(3): Show |
G | intron_variant | MODIFIER | HG00423.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061 a0001c0001t0002g0063 |
2 | 362 | 0.0055 | -10 | c.845 others(27): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 10/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100494210 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0002 | a0002c0002t0033 | a0002c0002t0033g0309 | 1 | 362 | 0.0028 | -10 | c.174 others(27): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 3/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100494249 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | NA18951.hp2 NA18966.hp1 NA19058.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 |
3 | 362 | 0.0083 | -10 | c.174 others(27): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 3/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100497852 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02055.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0006a0002c0002t0006 | a0001c0001t0001g0170 a0001c0003t0006g0181 a0002c0002t0006g0101 others(2): Show |
5 | 362 | 0.0138 | -10 | c.173 others(27): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 3/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100497888 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(56): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0095 a0001c0001t0001g0270 a0001c0001t0001g0271 others(56): Show |
59 | 362 | 0.1630 | -10 | c.173 others(27): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 3/11 | chr15 | TogoVar | |||||||
CERS4_chr19_8204370_8267421 | 8224104 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | NA19004.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0372 | 1 | 418 | 0.0024 | -10 | c.-2+ others(27): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8230179 | CCTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02257.hp2 | a0003 | a0003c0007 | a0003c0007t0009 | a0003c0007t0009g0340 | 1 | 418 | 0.0024 | -10 | c.-2+ others(27): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8245902 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02895.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0106 | 1 | 418 | 0.0024 | -10 | c.-1- others(25): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8255772 | TGGGGCGG others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(69): Show |
a0001a0009 | a0001c0002a0001c0006a0001c0019others(2): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(9): Show | a0001c0002t0001g0042 a0001c0002t0001g0075 a0001c0002t0001g0098 others(69): Show |
72 | 418 | 0.1723 | -10 | c.411 others(23): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8260968 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG03579.hp1 | a0008 | a0008c0024 | a0008c0024t0008 | a0008c0024t0008g0108 | 1 | 418 | 0.0024 | -10 | c.849 others(25): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS5_chr12_50124289_50172369 | 50135308 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02572.hp1 HG02809.hp2 others(10): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(2): Show | a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 others(10): Show |
13 | 320 | 0.0406 | -10 | c.872 others(25): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 8/9 | chr12 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50153269 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02055.hp2 NA18978.hp1 NA19058.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0018 | a0001c0001t0001g0105 a0001c0001t0001g0190 a0001c0001t0007g0075 others(1): Show |
4 | 320 | 0.0125 | -10 | c.198 others(27): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168464172 | TTTTGTGT others(3): Show |
T | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0010 | 1 | 176 | 0.0057 | -10 | c.170 others(27): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168464174 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG02572.hp2 HG02615.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0003g0003 a0001c0001t0003g0012 a0001c0001t0004g0014 others(4): Show |
7 | 176 | 0.0398 | -10 | c.170 others(27): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168477173 | CAGAGAGA others(3): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0081 a0001c0001t0011g0082 |
2 | 176 | 0.0114 | -10 | c.170 others(29): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168593526 | GTGTTTTG others(3): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01074.hp2 HG01099.hp2 others(56): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0120 others(56): Show |
59 | 176 | 0.3352 | -10 | c.407 others(29): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168620011 | CCATACAC others(3): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG01099.hp2 HG01256.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0035 a0001c0001t0001g0098 a0001c0001t0002g0061 others(6): Show |
9 | 176 | 0.0511 | -10 | c.408 others(29): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168620054 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG03209.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0119 a0001c0001t0007g0170 |
2 | 176 | 0.0114 | -10 | c.408 others(29): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168631415 | TTATGTAA others(3): Show |
T | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 176 | 0.0057 | -10 | 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 | 168645089 | TTAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG02165.hp2 HG02257.hp2 HG06807.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(4): Show | a0001c0001t0001g0175 a0001c0001t0002g0062 a0001c0001t0008g0083 others(4): Show |
7 | 176 | 0.0398 | -10 | c.465 others(29): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | chr2 | TogoVar |