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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP112_chr17_65630537_66197133 | 65679129 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0054 | 1 | 112 | 0.0089 | 14 | c.269 others(33): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 24/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65821483 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0010 | 1 | 112 | 0.0089 | 14 | c.239 others(35): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 21/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65821520 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0083 | 1 | 112 | 0.0089 | 14 | c.239 others(35): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 21/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65916287 | G | GTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG03225.hp2 |
a0002 | a0002c0001a0002c0004 | a0002c0001t0001a0002c0004t0001 | a0002c0001t0001g0012 a0002c0001t0001g0013 a0002c0004t0001g0041 |
3 | 112 | 0.0268 | 14 | c.198 others(35): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 19/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65920362 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02055.hp1 HG02451.hp1 others(4): Show |
a0001a0002a0004 | a0001c0002a0002c0001a0004c0005 | a0001c0002t0001a0002c0001t0001a0002c0001t0003others(2): Show | a0001c0002t0001g0054 a0002c0001t0001g0015 a0002c0001t0001g0018 others(4): Show |
7 | 112 | 0.0625 | 14 | c.198 others(33): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 19/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66025920 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00735.hp1 others(11): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0050 a0001c0002t0001g0053 a0001c0002t0001g0056 others(11): Show |
14 | 112 | 0.1250 | 14 | c.165 others(33): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 16/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66092356 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02486.hp2 HG02559.hp2 others(2): Show |
a0001a0004 | a0001c0002a0001c0003a0004c0005 | a0001c0002t0001a0001c0003t0001a0004c0005t0001 | a0001c0002t0001g0050 a0001c0003t0001g0042 a0001c0003t0001g0062 others(2): Show |
5 | 112 | 0.0446 | 14 | c.768 others(31): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 8/26 | chr17 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 101929974 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02970.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0309 a0001c0001t0012g0310 a0001c0001t0012g0311 |
3 | 336 | 0.0089 | 14 | c.248 others(31): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101938159 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0289 | 1 | 336 | 0.0030 | 14 | c.249 others(31): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 102003186 | G | GTATATAT others(7): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00673.hp1 HG01975.hp1 others(11): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0003a0005c0005others(2): Show | a0001c0001t0001a0002c0003t0003a0002c0003t0007others(3): Show | a0001c0001t0001g0056 a0001c0001t0001g0064 a0002c0003t0003g0002 others(11): Show |
14 | 336 | 0.0417 | 14 | c.*55 others(25): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2125 | chr11 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 102004895 | C | CATATATA others(7): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 HG01517.hp2 HG02015.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0005 | a0001c0001t0001g0099 a0001c0002t0001g0007 a0001c0002t0001g0148 others(3): Show |
6 | 336 | 0.0179 | 14 | c.*72 others(25): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 3834 | chr11 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80561896 | C | CTATATAT others(7): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 164 | 0.0061 | 14 | c.285 others(33): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 20/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80596819 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0054 | 1 | 164 | 0.0061 | 14 | c.280 others(35): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80617219 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG03195.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0129 a0001c0001t0002g0130 |
2 | 164 | 0.0122 | 14 | c.280 others(35): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80619367 | G | GACACACA others(7): Show |
intron_variant | MODIFIER | HG02818.hp2 HG06807.hp1 NA20300.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0002c0002t0004 | a0001c0001t0002g0132 a0001c0001t0004g0137 a0002c0002t0004g0152 |
3 | 164 | 0.0183 | 14 | c.280 others(35): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80678045 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02132.hp1 HG02965.hp2 others(3): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0006others(2): Show | a0001c0001t0001a0002c0002t0004a0002c0006t0003others(2): Show | a0001c0001t0001g0026 a0002c0002t0004g0065 a0002c0002t0004g0073 others(3): Show |
6 | 164 | 0.0366 | 14 | c.280 others(35): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80678049 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03540.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0011 a0001c0001t0005g0013 a0001c0001t0005g0061 |
3 | 164 | 0.0183 | 14 | c.280 others(35): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80711295 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0094 | 1 | 164 | 0.0061 | 14 | c.280 others(35): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80729058 | G | GGTGTGTG others(7): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0081 | 1 | 164 | 0.0061 | 14 | c.280 others(35): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80732471 | G | GGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0085 | 1 | 164 | 0.0061 | 14 | c.280 others(35): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80810323 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02280.hp2 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0001 | a0001c0001t0001g0025 a0001c0012t0001g0049 |
2 | 164 | 0.0122 | 14 | c.121 others(35): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 13/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80935646 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0164 | 1 | 164 | 0.0061 | 14 | c.-16 others(31): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 2/24 | chr14 | TogoVar | |||||||
CEP135_chr4_55943945_56038361 | 55956177 | C | CCTTAAAA others(7): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0263 | 1 | 346 | 0.0029 | 14 | c.473 others(31): Show |
CEP135 | ENSG00000174799.12 | transcript | ENST00000257287.5 | protein_coding | 4/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CEP152_chr15_48732938_48816069 | 48777466 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02155.hp1 NA18949.hp2 NA18988.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0308 |
3 | 342 | 0.0088 | 14 | c.157 others(33): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 12/26 | chr15 | TogoVar | |||||||
CEP162_chr6_84119250_84232643 | 84156743 | G | GACACACA others(7): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01358.hp1 HG02647.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0011others(1): Show | a0001c0001t0003a0001c0004t0002a0001c0011t0002others(1): Show | a0001c0001t0003g0065 a0001c0001t0003g0112 a0001c0004t0002g0210 others(3): Show |
6 | 214 | 0.0280 | 14 | c.278 others(33): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 21/26 | chr6 | TogoVar | |||||||
CEP162_chr6_84119250_84232643 | 84170373 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0007 | a0007c0013 | a0007c0013t0002 | a0007c0013t0002g0113 | 1 | 214 | 0.0047 | 14 | c.228 others(31): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 17/26 | chr6 | TogoVar | |||||||
CEP164_chr11_117322854_117418266 | 117337510 | T | TAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0006 | a0006c0006 | a0006c0006t0007 | a0006c0006t0007g0077 | 1 | 390 | 0.0026 | 14 | c.-21 others(31): Show |
CEP164 | ENSG00000110274.16 | transcript | ENST00000278935.8 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP170_chr1_243119428_243260281 | 243159763 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02965.hp2 HG03139.hp2 others(5): Show |
a0001a0003a0013 | a0001c0001a0001c0025a0003c0009others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0011others(3): Show | a0001c0001t0002g0081 a0001c0001t0002g0186 a0001c0001t0002g0269 others(5): Show |
8 | 303 | 0.0264 | 14 | c.367 others(33): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 13/19 | chr1 | TogoVar | |||||||
CEP192_chr18_12986362_13130036 | 13066963 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02615.hp1 HG02622.hp1 others(2): Show |
a0005a0014a0025 | a0005c0005a0014c0012a0025c0032 | a0005c0005t0001a0014c0012t0001a0025c0032t0001 | a0005c0005t0001g0153 a0005c0005t0001g0159 a0005c0005t0001g0172 others(2): Show |
5 | 392 | 0.0128 | 14 | c.448 others(31): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 21/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CEP20_chr16_15860719_15893603 | 15882780 | T | TATACACA others(7): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02155.hp1 HG03688.hp1 others(6): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0004a0003c0003t0004 | a0002c0002t0004g0019 a0002c0002t0004g0083 a0002c0002t0004g0084 others(3): Show |
9 | 433 | 0.0208 | 14 | c.226 others(31): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 2/4 | chr16 | TogoVar | |||||||
CEP20_chr16_15860719_15893603 | 15890556 | C | CAAAAAAA others(7): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG01346.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0005g0018 others(3): Show |
7 | 433 | 0.0162 | 14 | c.-19 others(25): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 1954 | chr16 | TogoVar | |||||||
CEP20_chr16_15860719_15893603 | 15890640 | G | GATATTTT others(7): Show |
upstream_gene_variant | MODIFIER | HG01361.hp1 HG02647.hp1 HG02809.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0236 a0001c0001t0001g0237 others(1): Show |
5 | 433 | 0.0116 | 14 | c.-20 others(25): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 2038 | chr16 | TogoVar | |||||||
CEP350_chr1_179949810_180119875 | 179991667 | A | ATATGTGT others(7): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0014 | a0014c0017 | a0014c0017t0001 | a0014c0017t0001g0162 | 1 | 248 | 0.0040 | 14 | c.236 others(29): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 179991707 | G | GTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0126 | 1 | 248 | 0.0040 | 14 | c.236 others(29): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 180004931 | C | CTTTCTTT others(7): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01516.hp2 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 a0001c0001t0001g0173 a0001c0001t0001g0226 |
3 | 248 | 0.0121 | 14 | c.113 others(33): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 180007839 | C | CGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG02922.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 a0001c0001t0001g0194 |
2 | 248 | 0.0081 | 14 | c.124 others(33): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 180042132 | T | TCACACAC others(7): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03471.hp2 |
a0009 | a0009c0009 | a0009c0009t0008 | a0009c0009t0008g0007 a0009c0009t0008g0009 |
2 | 248 | 0.0081 | 14 | c.436 others(31): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 180042132 | T | TCTCACAC others(7): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0020 | a0002c0020t0019 | a0002c0020t0019g0010 | 1 | 248 | 0.0040 | 14 | c.436 others(31): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 180090556 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 248 | 0.0040 | 14 | c.642 others(31): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 180090557 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 248 | 0.0040 | 14 | c.642 others(31): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP41_chr7_130388771_130446016 | 130392347 | G | GACACACA others(7): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0110 | 1 | 346 | 0.0029 | 14 | c.*65 others(25): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 1423 | chr7 | TogoVar | |||||||
CEP41_chr7_130388771_130446016 | 130410026 | C | CTTCTTTT others(7): Show |
intron_variant | MODIFIER | HG02896.hp1 NA18962.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0027a0001c0001t0087 | a0001c0001t0023g0085 a0001c0001t0027g0276 a0001c0001t0087g0295 |
3 | 346 | 0.0087 | 14 | c.277 others(31): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 5/10 | chr7 | TogoVar | |||||||
CEP41_chr7_130388771_130446016 | 130410030 | T | TTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0071 | a0001c0001t0071g0298 | 1 | 346 | 0.0029 | 14 | c.277 others(31): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 5/10 | chr7 | TogoVar | |||||||
CEP43_chr6_166994397_167057718 | 167022259 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG00597.hp2 NA20905.hp1 |
a0002a0006 | a0002c0002a0006c0007 | a0002c0002t0035a0006c0007t0090 | a0002c0002t0035g0209 a0006c0007t0090g0198 |
2 | 376 | 0.0053 | 14 | c.580 others(29): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CEP43_chr6_166994397_167057718 | 167042814 | T | TTGTGTGT others(7): Show |
3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG01346.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0031a0001c0001t0033others(13): Show | a0001c0001t0010g0002 a0001c0001t0010g0031 a0001c0001t0010g0032 others(19): Show |
24 | 376 | 0.0638 | 14 | c.*28 others(25): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 13/13 | 2862 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP44_chr4_174278911_174325328 | 174282550 | T | TATCATTT others(7): Show |
upstream_gene_variant | MODIFIER | NA19059.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 388 | 0.0026 | 14 | c.-15 others(25): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 1360 | chr4 | TogoVar | |||||||
CEP57L1_chr6_109090507_109179418 | 109177637 | A | AATATATA others(7): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG02257.hp2 NA18977.hp1 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0046a0001c0001t0053 | a0001c0001t0020g0181 a0001c0001t0046g0041 a0001c0001t0053g0141 |
3 | 228 | 0.0132 | 14 | c.*14 others(27): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 3220 | chr6 | TogoVar | |||||||
CEP57L1_chr6_109090507_109179418 | 109177675 | T | TATATATA others(7): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG03669.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0025a0002c0002t0070others(1): Show | a0002c0002t0003g0001 a0002c0002t0025g0020 a0002c0002t0070g0021 others(1): Show |
4 | 228 | 0.0175 | 14 | c.*14 others(27): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 3258 | chr6 | TogoVar | |||||||
CEP63_chr3_134481057_134570031 | 134528569 | C | CGTGTGTA others(7): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0099 | 1 | 322 | 0.0031 | 14 | c.223 others(31): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CEP63_chr3_134481057_134570031 | 134528569 | C | CGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG02559.hp1 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0006 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(2): Show | a0001c0001t0001g0211 a0001c0001t0005g0122 a0001c0001t0009g0097 others(4): Show |
7 | 322 | 0.0217 | 14 | c.223 others(31): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |