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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP85L_chr6_118455772_118656591 | 118612676 | CGGGGGGG others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00639.hp2 others(97): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0012others(6): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0005others(16): Show | a0001c0001t0001g0073a0001c0001t0001g0129a0001c0001t0001g0130others(97): Show | 100 | 302 | 0.3311 | -8 | c.232 others(27): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118614865 | CAGATAGA others(1): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02451.hp1 HG02723.hp2 others(7): Show |
a0001a0005a0006others(1): Show | a0001c0001a0005c0005a0006c0006others(1): Show | a0001c0001t0001a0005c0005t0008a0006c0006t0009others(2): Show | a0001c0001t0001g0056a0005c0005t0008g0250a0005c0005t0008g0251others(7): Show | 10 | 302 | 0.0331 | -8 | c.232 others(27): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85_chr1_26229200_26283808 | 26250925 | CTTTTTTC others(1): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG02486.hp2 HG02647.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0005a0003c0007 | a0001c0001t0002a0003c0005t0004a0003c0007t0004 | a0001c0001t0002g0010a0001c0001t0002g0011a0001c0001t0002g0012others(3): Show | 6 | 342 | 0.0175 | -8 | c.209 others(25): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP89_chr19_32870925_32976958 | 32892202 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00642.hp1 others(31): Show |
a0002a0003a0004others(1): Show | a0002c0001a0003c0003a0003c0013others(2): Show | a0002c0001t0002a0002c0001t0016a0003c0003t0003others(8): Show | a0002c0001t0002g0315a0002c0001t0002g0316a0002c0001t0002g0318others(31): Show | 34 | 386 | 0.0881 | -8 | c.187 others(27): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 16/18 | chr19 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32960749 | ACTATGAG others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG03017.hp2 HG03927.hp2 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0162a0002c0001t0002g0345a0002c0001t0002g0356 | 3 | 386 | 0.0078 | -8 | c.147 others(23): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 2/18 | chr19 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32963941 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00621.hp2 others(60): Show |
a0000a0001 | a0000c0012a0001c0002a0001c0016 | a0000c0012t0004a0001c0002t0001a0001c0002t0015others(3): Show | a0000c0012t0004g0065a0001c0002t0001g0001a0001c0002t0001g0002others(57): Show | 63 | 386 | 0.1632 | -8 | c.146 others(25): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 2/18 | chr19 | TogoVar | ||||||
CEP95_chr17_64501977_64542946 | 64540759 | GTATATAT others(1): Show |
G | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG02572.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015a0001c0001t0002g0030a0001c0001t0002g0052others(7): Show | 12 | 248 | 0.0484 | -8 | c.*29 others(19): Show |
CEP95 | ENSG00000258890.8 | transcript | ENST00000556440.7 | protein_coding | 2814 | chr17 | TogoVar | ||||||
CEPT1_chr1_111135223_111190104 | 111158902 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01346.hp2 HG01884.hp2 HG01891.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0061a0001c0001t0005g0289a0001c0001t0005g0290others(6): Show | 11 | 410 | 0.0268 | -8 | c.340 others(23): Show |
CEPT1 | ENSG00000134255.16 | transcript | ENST00000357172.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CER1_chr9_14714724_14727733 | 14719527 | GTGCCTGC others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG00639.hp1 others(25): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0004others(3): Show | a0001c0001t0001a0001c0006t0003a0002c0004t0003others(3): Show | a0001c0001t0001g0001a0001c0006t0003g0013a0002c0004t0003g0006others(4): Show | 28 | 460 | 0.0609 | -8 | c.*55 others(17): Show |
CER1 | ENSG00000147869.5 | transcript | ENST00000380911.4 | protein_coding | 196 | chr9 | TogoVar | ||||||
CER1_chr9_14714724_14727733 | 14719557 | GCCTGCCT others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(63): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0023 | 66 | 460 | 0.1435 | -8 | c.*52 others(17): Show |
CER1 | ENSG00000147869.5 | transcript | ENST00000380911.4 | protein_coding | 166 | chr9 | TogoVar | ||||||
CER1_chr9_14714724_14727733 | 14719561 | GCCTTCCT others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00609.hp2 HG02922.hp2 NA18906.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0016a0002c0002t0001g0019 | 5 | 460 | 0.0109 | -8 | c.*52 others(17): Show |
CER1 | ENSG00000147869.5 | transcript | ENST00000380911.4 | protein_coding | 162 | chr9 | TogoVar | ||||||
CER1_chr9_14714724_14727733 | 14723164 | TCACACAC others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp1 HG01993.hp1 HG02258.hp2 others(13): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0001a0002c0002t0001g0008a0002c0002t0001g0009others(2): Show | 16 | 460 | 0.0348 | -8 | c.-50 others(17): Show |
CER1 | ENSG00000147869.5 | transcript | ENST00000380911.4 | protein_coding | 432 | chr9 | TogoVar | ||||||
CERCAM_chr9_128415857_128442347 | 128418579 | TTTTTTTT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01361.hp2 HG01884.hp1 HG01891.hp1 others(14): Show |
a0001a0003a0005others(3): Show | a0001c0002a0003c0008a0005c0013others(3): Show | a0001c0002t0001a0003c0008t0002a0005c0013t0001others(3): Show | a0001c0002t0001g0013a0001c0002t0001g0051a0001c0002t0001g0052others(11): Show | 17 | 400 | 0.0425 | -8 | c.-22 others(19): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 2277 | chr9 | TogoVar | ||||||
CERCAM_chr9_128415857_128442347 | 128437409 | GTGTATAT others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(186): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(89): Show | 189 | 400 | 0.4725 | -8 | c.*56 others(17): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 63 | chr9 | TogoVar | ||||||
CERCAM_chr9_128415857_128442347 | 128437838 | CATACACG others(1): Show |
C | downstream_gene_variant | MODIFIER | HG03225.hp1 NA19030.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215a0001c0001t0001g0216a0001c0001t0001g0217 | 3 | 400 | 0.0075 | -8 | c.*99 others(17): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 492 | chr9 | TogoVar | ||||||
CERCAM_chr9_128415857_128442347 | 128437944 | CACGTATA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01261.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 400 | 0.0075 | -8 | c.*10 others(19): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 598 | chr9 | TogoVar | ||||||
CERCAM_chr9_128415857_128442347 | 128437978 | CACGTATA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01261.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 400 | 0.0075 | -8 | c.*11 others(19): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 632 | chr9 | TogoVar | ||||||
CERKL_chr2_181531672_181662105 | 181641338 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG02647.hp1 others(1): Show |
a0001a0006 | a0001c0002a0006c0012 | a0001c0002t0002a0001c0002t0003a0006c0012t0001 | a0001c0002t0002g0028a0001c0002t0003g0027a0001c0002t0003g0043others(1): Show | 4 | 298 | 0.0134 | -8 | c.238 others(27): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
CERKL_chr2_181531672_181662105 | 181650079 | AAGGGAGG others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG01167.hp1 others(32): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0205a0001c0001t0001g0206a0001c0001t0001g0209others(31): Show | 35 | 298 | 0.1175 | -8 | c.238 others(25): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
CERKL_chr2_181531672_181662105 | 181650107 | GAGGGAGG others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00609.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0007a0001c0002t0003a0002c0003t0001others(4): Show | a0001c0001t0007g0143a0001c0002t0003g0098a0002c0003t0001g0103others(16): Show | 19 | 298 | 0.0638 | -8 | c.238 others(25): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
CERK_chr22_46679410_46743252 | 46680931 | TACCCACC others(1): Show |
T | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02723.hp2 HG02965.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0005a0001c0008others(1): Show | a0001c0001t0056a0001c0005t0003a0001c0008t0012others(1): Show | a0001c0001t0056g0269a0001c0005t0003g0161a0001c0008t0012g0275others(2): Show | 5 | 340 | 0.0147 | -8 | c.*61 others(19): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 3478 | chr22 | TogoVar | ||||||
CERS3_chr15_100395395_100533950 | 100397011 | TACACACA others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(307): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(306): Show | 310 | 362 | 0.8564 | -8 | c.*56 others(19): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 3383 | chr15 | TogoVar | ||||||
CERS3_chr15_100395395_100533950 | 100405241 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(99): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0007others(4): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0018others(13): Show | a0001c0001t0002g0015a0001c0001t0002g0016a0001c0001t0002g0017others(98): Show | 102 | 362 | 0.2818 | -8 | c.100 others(27): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 11/11 | chr15 | TogoVar | ||||||
CERS3_chr15_100395395_100533950 | 100425897 | CTTGCTAT others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(98): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0019others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(98): Show | 101 | 362 | 0.2790 | -8 | c.100 others(29): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 11/11 | chr15 | TogoVar | ||||||
CERS3_chr15_100395395_100533950 | 100467738 | GCTATCAT others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(99): Show |
a0001a0008 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0095a0001c0001t0001g0129a0001c0001t0001g0270others(99): Show | 102 | 362 | 0.2818 | -8 | c.845 others(25): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 10/11 | chr15 | TogoVar | ||||||
CERS3_chr15_100395395_100533950 | 100494251 | ATATATAT others(1): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02132.hp1 HG03491.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0013 | a0001c0001t0001g0174a0001c0001t0001g0201a0001c0001t0001g0229others(3): Show | 6 | 362 | 0.0166 | -8 | c.174 others(25): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 3/11 | chr15 | TogoVar | ||||||
CERS3_chr15_100395395_100533950 | 100497852 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02132.hp2 HG02698.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0003t0039others(4): Show | a0001c0001t0001g0167a0001c0001t0001g0187a0001c0001t0003g0127others(5): Show | 8 | 362 | 0.0221 | -8 | c.173 others(25): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 3/11 | chr15 | TogoVar | ||||||
CERS3_chr15_100395395_100533950 | 100497890 | CACACACT others(1): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG02451.hp1 HG02818.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0021 | a0001c0001t0001g0275a0001c0001t0001g0278a0001c0001t0002g0097others(6): Show | 9 | 362 | 0.0249 | -8 | c.173 others(25): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 3/11 | chr15 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8236694 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG04115.hp1 HG04228.hp2 NA18948.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0006a0001c0021others(3): Show | a0001c0002t0003a0001c0002t0006a0001c0006t0005others(6): Show | a0001c0002t0003g0416a0001c0002t0006g0241a0001c0006t0005g0193others(8): Show | 11 | 418 | 0.0263 | -8 | 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 | 8243216 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02280.hp1 others(9): Show |
a0001a0003a0006 | a0001c0001a0001c0012a0003c0007others(1): Show | a0001c0001t0001a0001c0012t0002a0003c0007t0003others(4): Show | a0001c0001t0001g0125a0001c0012t0002g0145a0003c0007t0003g0126others(9): Show | 12 | 418 | 0.0287 | -8 | c.-1- others(23): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CERS5_chr12_50124289_50172369 | 50135142 | AGAGAGGA others(1): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG03209.hp1 HG03540.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0009 | a0001c0002t0002g0217a0001c0002t0002g0242a0001c0002t0002g0257others(2): Show | 5 | 320 | 0.0156 | -8 | c.873 others(23): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 8/9 | chr12 | TogoVar | ||||||
CERS5_chr12_50124289_50172369 | 50135308 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp2 HG01255.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0072a0001c0001t0001g0079a0001c0001t0001g0190others(11): Show | 14 | 320 | 0.0438 | -8 | c.872 others(23): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 8/9 | chr12 | TogoVar | ||||||
CERS5_chr12_50124289_50172369 | 50140284 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02572.hp2 HG02622.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0016a0001c0001t0006g0196a0001c0001t0006g0197others(5): Show | 8 | 320 | 0.0250 | -8 | c.493 others(25): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 4/9 | chr12 | TogoVar | ||||||
CERS5_chr12_50124289_50172369 | 50148923 | AAAAAATA others(1): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG01884.hp2 NA18984.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0103a0001c0001t0001g0113a0001c0001t0001g0119others(3): Show | 6 | 320 | 0.0188 | -8 | c.198 others(25): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168464174 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG01255.hp2 HG01884.hp2 HG02622.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0001g0130a0001c0001t0004g0125a0001c0001t0004g0128others(4): Show | 7 | 176 | 0.0398 | -8 | 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 | 168477173 | CAGAGAGA others(1): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG01496.hp2 HG02055.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(6): Show | a0001c0001t0002g0052a0001c0001t0004g0074a0001c0001t0007g0105others(10): Show | 13 | 176 | 0.0739 | -8 | 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 | 168517494 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG02109.hp2 HG02258.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(6): Show | a0001c0001t0002g0009a0001c0001t0002g0114a0001c0001t0005g0043others(8): Show | 11 | 176 | 0.0625 | -8 | c.171 others(27): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168555722 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG00621.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0025a0001c0001t0001g0060a0001c0001t0001g0089others(27): Show | 30 | 176 | 0.1705 | -8 | c.277 others(25): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168602497 | TACACAGG others(1): Show |
T | intron_variant | MODIFIER | HG02630.hp1 HG02647.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0014 | a0001c0001t0010g0004a0001c0001t0014g0078a0001c0001t0014g0176 | 3 | 176 | 0.0171 | -8 | c.408 others(27): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168620011 | CCATACAC others(1): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG02071.hp1 HG02129.hp2 others(25): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0027a0001c0001t0001g0037a0001c0001t0001g0055others(25): Show | 28 | 176 | 0.1591 | -8 | c.408 others(27): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168620014 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02647.hp1 HG02895.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0009others(2): Show | a0001c0001t0004g0046a0001c0001t0008g0083a0001c0001t0009g0044others(2): Show | 5 | 176 | 0.0284 | -8 | c.408 others(27): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168645089 | TTAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp1 HG02647.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0001g0130a0001c0001t0004g0046a0001c0001t0004g0047others(8): Show | 11 | 176 | 0.0625 | -8 | c.465 others(27): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168645138 | TATATAGA others(1): Show |
T | intron_variant | MODIFIER | HG02886.hp1 NA18968.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0098a0001c0001t0002g0109 | 2 | 176 | 0.0114 | -8 | c.465 others(27): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168645140 | TATAGAGA others(1): Show |
T | intron_variant | MODIFIER | HG02630.hp2 NA18977.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0019 | a0001c0001t0002g0141a0001c0001t0019g0163 | 2 | 176 | 0.0114 | -8 | c.465 others(27): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168645142 | TAGAGAGA others(1): Show |
T | intron_variant | MODIFIER | HG01978.hp1 HG02257.hp2 HG02258.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0002g0114a0001c0001t0003g0107a0001c0001t0005g0086others(7): Show | 10 | 176 | 0.0568 | -8 | c.465 others(27): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168665688 | CTTTACAT others(1): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG02922.hp1 HG03041.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(1): Show | a0001c0001t0001g0158a0001c0001t0002g0052a0001c0001t0013g0174others(1): Show | 4 | 176 | 0.0227 | -8 | c.466 others(27): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168674959 | CTTATTTA others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00558.hp1 others(128): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0019a0001c0001t0001g0027a0001c0001t0001g0035others(128): Show | 131 | 176 | 0.7443 | -8 | c.466 others(27): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168746814 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG02602.hp1 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036a0001c0001t0002g0145 | 2 | 176 | 0.0114 | -8 | c.846 others(27): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168761332 | AATGCCAT others(1): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG01261.hp1 HG03453.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0015others(1): Show | a0001c0001t0002g0114a0001c0001t0008g0040a0001c0001t0008g0048others(7): Show | 10 | 176 | 0.0568 | -8 | c.846 others(25): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 8/9 | chr2 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75375582 | AAAATAAA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01081.hp2 HG01243.hp1 others(30): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0002g0166a0001c0001t0002g0168a0001c0001t0003g0131others(30): Show | 33 | 336 | 0.0982 | -8 | c.*37 others(19): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 2192 | chr5 | TogoVar |