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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP250_chr20_35450598_35524280 | 35451050 | A | ATATATAT | upstream_gene_variant | MODIFIER | HG02698.hp1 HG03471.hp1 HG03491.hp1 others(2): Show |
a0001 | a0001c0001a0001c0026 | a0001c0001t0011a0001c0001t0012a0001c0026t0019 | a0001c0001t0011g0154 a0001c0001t0011g0155 a0001c0001t0011g0156 others(2): Show |
5 | 209 | 0.0239 | 7 | c.-49 others(18): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 4547 | chr20 | TogoVar | |||||||
CEP295_chr11_93656682_93735358 | 93681403 | A | ATTTTTTT | intron_variant | MODIFIER | HG01099.hp2 HG01358.hp2 HG01943.hp2 others(9): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0001 | a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0058 others(9): Show |
12 | 26 | 0.4615 | 7 | c.765 others(24): Show |
CEP295 | ENSG00000166004.15 | transcript | ENST00000325212.11 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP295_chr11_93656682_93735358 | 93720489 | A | AAAAAAAG | intron_variant | MODIFIER | HG00673.hp2 HG02055.hp2 HG02056.hp1 others(15): Show |
a0001a0005a0015others(1): Show | a0001c0001a0005c0006a0015c0024others(1): Show | a0001c0001t0001a0005c0006t0001a0015c0024t0001others(1): Show | a0001c0001t0001g0007 a0001c0001t0001g0126 a0001c0001t0001g0134 others(13): Show |
18 | 60 | 0.3000 | 7 | c.575 others(24): Show |
CEP295 | ENSG00000166004.15 | transcript | ENST00000325212.11 | protein_coding | 18/29 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 179998300 | T | TAATTTTC | intron_variant | MODIFIER | HG02886.hp1 HG03098.hp2 HG03516.hp1 others(3): Show |
a0002a0008a0023 | a0002c0002a0008c0029a0023c0028 | a0002c0002t0004a0008c0029t0010a0023c0028t0010 | a0002c0002t0004g0023 a0002c0002t0004g0024 a0002c0002t0004g0025 others(3): Show |
6 | 246 | 0.0244 | 7 | c.101 others(26): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | TogoVar | |||||||
CEP350_chr1_179949810_180119875 | 180008446 | G | GTTAGCTA | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(90): Show |
a0001a0014a0015others(5): Show | a0001c0001a0001c0011a0001c0033others(7): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0014others(11): Show | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(90): Show |
93 | 246 | 0.3780 | 7 | c.124 others(26): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP55_chr10_93491612_93534092 | 93512226 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00544.hp2 others(87): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0002c0013others(8): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(15): Show | a0001c0001t0001g0141 a0001c0001t0001g0223 a0002c0002t0001g0079 others(62): Show |
90 | 98 | 0.9184 | 7 | c.529 others(24): Show |
CEP55 | ENSG00000138180.16 | transcript | ENST00000371485.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CEP57L1_chr6_109090507_109179418 | 109171242 | A | ATTTTTTT | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(28): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0026a0001c0007t0027a0002c0002t0002others(12): Show | a0001c0001t0026g0221 a0001c0007t0027g0005 a0002c0002t0002g0001 others(25): Show |
31 | 208 | 0.1490 | 7 | c.*82 others(18): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 11/11 | 8286 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP70_chr3_138489344_138599260 | 138582472 | A | AAAAAATT | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp2 others(101): Show |
a0002 | a0002c0002a0002c0012 | a0002c0002t0001a0002c0002t0002a0002c0012t0002 | a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0193 others(88): Show |
104 | 316 | 0.3291 | 7 | c.-6+ others(22): Show |
CEP70 | ENSG00000114107.9 | transcript | ENST00000264982.8 | protein_coding | 2/17 | chr3 | TogoVar | |||||||
CEP72_chr5_607340_658553 | 628620 | G | GGTTACCA | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0025 a0003c0003t0002g0026 |
2 | 88 | 0.0227 | 7 | c.512 others(24): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | TogoVar | |||||||
CEP72_chr5_607340_658553 | 650590 | G | GGTGTGAC | intron_variant | MODIFIER | HG01175.hp1 HG01433.hp1 HG02602.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0073 others(3): Show |
6 | 76 | 0.0789 | 7 | c.177 others(26): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | TogoVar | |||||||
CEP76_chr18_12667625_12707723 | 12668597 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02976.hp2 HG04228.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 others(5): Show |
8 | 42 | 0.1905 | 7 | c.*47 others(18): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 4027 | chr18 | TogoVar | |||||||
CEP78_chr9_78231075_78284690 | 78236969 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG02015.hp2 HG02055.hp1 others(7): Show |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0009a0001c0003t0027others(1): Show | a0001c0003t0004g0016 a0001c0003t0004g0211 a0001c0003t0004g0212 others(4): Show |
10 | 113 | 0.0885 | 7 | c.253 others(22): Show |
CEP78 | ENSG00000148019.14 | transcript | ENST00000643273.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CEP78_chr9_78231075_78284690 | 78279066 | G | GAAAAAAA | 3_prime_UTR_variant | MODIFIER | HG01891.hp1 HG02486.hp2 HG02622.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0033a0001c0001t0089 | a0001c0001t0021g0012 a0001c0001t0021g0095 a0001c0001t0033g0012 others(2): Show |
6 | 238 | 0.0252 | 7 | c.*82 others(18): Show |
CEP78 | ENSG00000148019.14 | transcript | ENST00000643273.2 | protein_coding | 17/17 | 8230 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CEP83_chr12_94302698_94464867 | 94423457 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG01192.hp2 HG01361.hp2 others(13): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0003a0001c0003t0001a0003c0005t0005 | a0001c0001t0003g0333 a0001c0001t0003g0334 a0001c0001t0003g0335 others(13): Show |
16 | 280 | 0.0571 | 7 | c.-10 others(28): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 2/16 | chr12 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118600300 | G | GTGTGTGT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00597.hp2 others(10): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0001g0059 a0001c0001t0001g0105 a0001c0001t0001g0127 others(10): Show |
13 | 129 | 0.1008 | 7 | c.232 others(26): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118613757 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(154): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(13): Show | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(154): Show |
157 | 162 | 0.9691 | 7 | c.232 others(26): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85_chr1_26229200_26283808 | 26238202 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(168): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0009a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0009t0003others(7): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0016 others(157): Show |
171 | 269 | 0.6357 | 7 | c.-22 others(24): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP85_chr1_26229200_26283808 | 26248722 | C | CTTTTTTT | intron_variant | MODIFIER | HG02258.hp2 HG02486.hp1 HG02895.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012 | a0001c0001t0003g0098 a0001c0001t0003g0104 a0001c0001t0003g0109 others(6): Show |
9 | 106 | 0.0849 | 7 | c.208 others(24): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP85_chr1_26229200_26283808 | 26256928 | G | GTGTGTGT | intron_variant | MODIFIER | HG03491.hp2 HG03669.hp2 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0198 |
3 | 22 | 0.1364 | 7 | c.904 others(22): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 4/13 | chr1 | TogoVar | |||||||
CEP89_chr19_32870925_32976958 | 32900888 | C | CTTTTTTT | intron_variant | MODIFIER | HG01361.hp2 HG01433.hp2 HG02145.hp1 others(10): Show |
a0001a0008 | a0001c0002a0008c0011 | a0001c0002t0001a0001c0002t0010a0001c0002t0034others(1): Show | a0001c0002t0001g0028 a0001c0002t0001g0037 a0001c0002t0001g0060 others(10): Show |
13 | 212 | 0.0613 | 7 | c.173 others(24): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 15/18 | chr19 | TogoVar | |||||||
CEP97_chr3_101719614_101775562 | 101723375 | C | CATATATA | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02145.hp2 HG02615.hp2 others(8): Show |
a0001a0012 | a0001c0001a0012c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0108 a0001c0001t0002g0175 a0001c0001t0007g0012 others(7): Show |
11 | 350 | 0.0314 | 7 | c.-13 others(18): Show |
CEP97 | ENSG00000182504.12 | transcript | ENST00000341893.8 | protein_coding | 1238 | chr3 | TogoVar | |||||||
CEP97_chr3_101719614_101775562 | 101723399 | C | CATATATA | upstream_gene_variant | MODIFIER | HG02280.hp1 HG03195.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0013 a0001c0001t0004g0303 |
3 | 347 | 0.0086 | 7 | c.-12 others(18): Show |
CEP97 | ENSG00000182504.12 | transcript | ENST00000341893.8 | protein_coding | 1214 | chr3 | TogoVar | |||||||
CERKL_chr2_181531672_181662105 | 181572780 | C | CTTTTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(129): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0010others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(25): Show | a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0187 others(127): Show |
132 | 278 | 0.4748 | 7 | c.613 others(22): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 3/12 | chr2 | TogoVar | |||||||
CERKL_chr2_181531672_181662105 | 181609533 | T | TAAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG01070.hp1 HG01516.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0151 a0001c0001t0002g0161 a0001c0001t0002g0173 others(6): Show |
9 | 42 | 0.2143 | 7 | c.239 others(24): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
CERK_chr22_46679410_46743252 | 46727449 | C | CTTTCTTT | intron_variant | MODIFIER | HG02083.hp2 NA18941.hp2 NA18961.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0002t0002others(1): Show | a0001c0001t0002g0180 a0001c0001t0004g0172 a0001c0002t0002g0171 others(3): Show |
6 | 324 | 0.0185 | 7 | c.143 others(24): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 1/12 | chr22 | TogoVar | |||||||
CERK_chr22_46679410_46743252 | 46738250 | G | GGCGGGCT | 5_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(170): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(49): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0022 others(160): Show |
173 | 204 | 0.8480 | 7 | c.-10 others(16): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 1/13 | 103 | chr22 | TogoVar | ||||||
CERS1_chr19_18863545_18901158 | 18872699 | A | ATATTTAG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(167): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0013a0001c0002t0001others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0015 others(147): Show |
170 | 378 | 0.4497 | 7 | c.101 others(26): Show |
CERS1 | ENSG00000223802.9 | transcript | ENST00000623882.4 | protein_coding | 6/7 | chr19 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100454387 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(62): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(8): Show | a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0118 others(61): Show |
65 | 67 | 0.9701 | 7 | c.999 others(24): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 11/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100483787 | A | ATTATTTT | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp2 HG01069.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0007a0001c0003t0010others(1): Show | a0001c0001t0001g0144 a0001c0003t0007g0358 a0001c0003t0007g0361 others(4): Show |
7 | 9 | 0.7778 | 7 | c.407 others(22): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 5/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100483787 | A | ATTTTTTT | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp1 HG01884.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0012 | a0001c0001t0001a0001c0003t0007a0001c0003t0010others(2): Show | a0001c0001t0001g0202 a0001c0003t0007g0357 a0001c0003t0007g0360 others(3): Show |
6 | 8 | 0.7500 | 7 | c.407 others(22): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 5/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100506470 | C | CCCCCCCG | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02486.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0009a0002c0002t0032a0002c0002t0033others(1): Show | a0002c0002t0009g0312 a0002c0002t0009g0313 a0002c0002t0009g0316 others(5): Show |
8 | 42 | 0.1905 | 7 | c.-1- others(22): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 2/11 | chr15 | TogoVar | |||||||
CERS4_chr19_8204370_8267421 | 8249587 | A | ATTTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG00735.hp1 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0200 a0001c0001t0002g0213 a0001c0001t0002g0216 others(26): Show |
29 | 90 | 0.3222 | 7 | c.-1- others(22): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8260950 | C | CAAAAAAA | intron_variant | MODIFIER | HG01346.hp2 HG02071.hp2 NA18943.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0006a0001c0002t0005a0001c0002t0006others(3): Show | a0001c0001t0006g0373 a0001c0002t0005g0084 a0001c0002t0006g0337 others(7): Show |
10 | 289 | 0.0346 | 7 | c.849 others(22): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS5_chr12_50124289_50172369 | 50134071 | G | GAAAAAAA | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG01123.hp2 others(43): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0001g0164 a0001c0001t0005g0013 a0001c0001t0005g0022 others(40): Show |
46 | 90 | 0.5111 | 7 | c.102 others(24): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 9/9 | chr12 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168662127 | C | CTTTTTTT | intron_variant | MODIFIER | HG02145.hp1 HG02559.hp1 HG02630.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0003g0006 others(5): Show |
8 | 95 | 0.0842 | 7 | c.466 others(26): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CES5A_chr16_55841154_55880373 | 55854544 | C | CTTTTTTT | intron_variant | MODIFIER | HG02165.hp2 HG02615.hp2 HG02717.hp2 others(5): Show |
a0001a0008a0011others(1): Show | a0001c0002a0008c0009a0011c0047others(1): Show | a0001c0002t0005a0008c0009t0004a0008c0009t0006others(2): Show | a0001c0002t0005g0185 a0008c0009t0004g0103 a0008c0009t0006g0022 others(4): Show |
8 | 65 | 0.1231 | 7 | c.112 others(26): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 9/12 | chr16 | TogoVar | |||||||
CFAP126_chr1_161359733_161372876 | 161371698 | G | GTTTTTTT | upstream_gene_variant | MODIFIER | HG02040.hp2 NA18942.hp2 NA18946.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0003 | a0001c0001t0003g0003 a0002c0002t0003g0015 |
8 | 196 | 0.0408 | 7 | c.-38 others(18): Show |
CFAP126 | ENSG00000188931.4 | transcript | ENST00000367974.2 | protein_coding | 3823 | chr1 | TogoVar | |||||||
CFAP161_chr15_81129270_81154179 | 81146883 | T | TATATATA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00733.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0300 |
4 | 443 | 0.0090 | 7 | c.637 others(22): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 5/6 | chr15 | TogoVar | |||||||
CFAP221_chr2_119539449_119661661 | 119628294 | G | GTGTGTGT | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp2 HG02735.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001a0003c0003t0002 | a0001c0001t0001g0021 a0001c0001t0001g0214 a0003c0003t0001g0061 others(2): Show |
5 | 32 | 0.1563 | 7 | c.165 others(24): Show |
CFAP221 | ENSG00000163075.13 | transcript | ENST00000413369.8 | protein_coding | 16/23 | chr2 | TogoVar | |||||||
CFAP251_chr12_121913592_122008919 | 121954636 | T | TAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(20): Show |
a0001a0002 | a0001c0003a0001c0016a0002c0001others(1): Show | a0001c0003t0001a0001c0016t0001a0002c0001t0001others(1): Show | a0001c0003t0001g0057 a0001c0003t0001g0088 a0001c0003t0001g0090 others(20): Show |
23 | 77 | 0.2987 | 7 | c.153 others(24): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP251_chr12_121913592_122008919 | 121979563 | C | CTTTTTTT | intron_variant | MODIFIER | HG01168.hp2 HG01255.hp1 HG01256.hp2 others(15): Show |
a0001 | a0001c0003a0001c0007a0001c0012 | a0001c0003t0001a0001c0007t0001a0001c0012t0001 | a0001c0003t0001g0095 a0001c0003t0001g0101 a0001c0003t0001g0352 others(15): Show |
18 | 100 | 0.1800 | 7 | c.300 others(26): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP276_chr1_109100951_109117747 | 109107725 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(105): Show |
a0001a0008 | a0001c0001a0008c0008 | a0001c0001t0001a0001c0001t0002a0008c0008t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 others(25): Show |
108 | 350 | 0.3086 | 7 | c.198 others(22): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
CFAP298_chr21_32594354_32617377 | 32598545 | C | CTTCTTCT | downstream_gene_variant | MODIFIER | HG01516.hp2 HG02451.hp1 HG02622.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0017 | a0001c0001t0010g0047 a0001c0001t0010g0189 a0001c0001t0010g0190 others(3): Show |
7 | 406 | 0.0172 | 7 | c.*33 others(18): Show |
CFAP298 | ENSG00000159079.19 | transcript | ENST00000290155.8 | protein_coding | 808 | chr21 | TogoVar | |||||||
CFAP299_chr4_80330730_80968750 | 80576197 | A | ATATATAT | intron_variant | MODIFIER | HG00423.hp2 HG02735.hp2 HG03516.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0050 a0001c0004t0001g0094 a0001c0004t0001g0095 |
3 | 83 | 0.0361 | 7 | c.243 others(24): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
CFAP299_chr4_80330730_80968750 | 80799314 | A | ATATATTG | intron_variant | MODIFIER | HG02965.hp2 HG03139.hp2 HG03516.hp1 |
a0001a0002 | a0001c0003a0001c0004a0002c0006 | a0001c0003t0002a0001c0004t0001a0002c0006t0001 | a0001c0003t0002g0092 a0001c0004t0001g0050 a0002c0006t0001g0088 |
3 | 95 | 0.0316 | 7 | c.334 others(26): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80799892 | A | AATATTAT | intron_variant | MODIFIER | HG02922.hp1 HG06807.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0002 | a0001c0001t0001g0018 a0001c0009t0002g0015 |
2 | 93 | 0.0215 | 7 | c.334 others(26): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80799893 | A | ATATATAT | intron_variant | MODIFIER | HG03041.hp1 HG03516.hp1 |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0001a0002c0002t0001 | a0001c0004t0001g0050 a0002c0002t0001g0002 |
2 | 96 | 0.0208 | 7 | c.334 others(26): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80800632 | A | AAATATAT | intron_variant | MODIFIER | HG02976.hp1 HG03139.hp1 HG03195.hp2 others(1): Show |
a0002 | a0002c0005a0002c0006 | a0002c0005t0001a0002c0006t0001 | a0002c0005t0001g0072 a0002c0005t0001g0076 a0002c0005t0001g0077 others(1): Show |
4 | 96 | 0.0417 | 7 | c.334 others(26): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80843912 | C | CCCCACAA | intron_variant | MODIFIER | HG02922.hp1 HG02965.hp2 HG03041.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0009others(2): Show | a0001c0001t0001a0001c0004t0001a0001c0009t0002others(2): Show | a0001c0001t0001g0018 a0001c0004t0001g0050 a0001c0009t0002g0015 others(2): Show |
5 | 96 | 0.0521 | 7 | c.334 others(26): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | chr4 | TogoVar | |||||||
CFAP299_chr4_80330730_80968750 | 80866059 | T | TATATATA | intron_variant | MODIFIER | HG02071.hp1 HG02071.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0059 a0002c0002t0001g0005 |
2 | 7 | 0.2857 | 7 | c.334 others(24): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | chr4 | TogoVar |