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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CENPP_chr9_92320953_92625529 | 92352505 | G | GTATATAC others(17): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0041 | 1 | 260 | 0.0039 | 24 | c.467 others(41): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92352505 | G | GTGTATAC others(17): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 260 | 0.0039 | 24 | c.467 others(41): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92352505 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0029 | a0001c0001t0006g0206a0001c0001t0029g0207 | 2 | 260 | 0.0077 | 24 | c.467 others(41): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92352505 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 260 | 0.0039 | 24 | c.467 others(41): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92352505 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0167 | 1 | 260 | 0.0039 | 24 | c.467 others(41): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92352510 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 260 | 0.0039 | 24 | c.467 others(41): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92533328 | A | AAAAAATA others(17): Show |
intron_variant | MODIFIER | HG02615.hp2 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0243a0001c0001t0002g0109 | 2 | 260 | 0.0077 | 24 | c.565 others(43): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92533328 | A | AAAATATA others(17): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 260 | 0.0039 | 24 | c.565 others(43): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92533328 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 260 | 0.0039 | 24 | c.565 others(43): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92567373 | G | GATATATA others(17): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0134 | 1 | 260 | 0.0039 | 24 | c.565 others(43): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92567403 | T | TATAGATA others(17): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0168 | 1 | 260 | 0.0039 | 24 | c.565 others(43): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPU_chr4_184689085_184739096 | 184731883 | C | CTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG01975.hp2 NA18983.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0014 | a0001c0001t0001g0162a0004c0004t0014g0295 | 2 | 358 | 0.0056 | 24 | c.48- others(37): Show |
CENPU | ENSG00000151725.12 | transcript | ENST00000281453.10 | protein_coding | 1/12 | chr4 | TogoVar | ||||||
CEP104_chr1_3807086_3862211 | 3825008 | A | AGGGGGGC others(17): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0151 | 1 | 382 | 0.0026 | 24 | c.236 others(41): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 18/21 | chr1 | TogoVar | ||||||
CEP104_chr1_3807086_3862211 | 3825053 | A | AGGGGGCA others(17): Show |
intron_variant | MODIFIER | HG02074.hp2 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0311a0001c0001t0008g0248 | 2 | 382 | 0.0052 | 24 | c.236 others(41): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 18/21 | chr1 | TogoVar | ||||||
CEP104_chr1_3807086_3862211 | 3825053 | A | AGGGGGGC others(17): Show |
intron_variant | MODIFIER | HG03098.hp1 NA18965.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0141a0001c0001t0008g0262 | 2 | 382 | 0.0052 | 24 | c.236 others(41): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 18/21 | chr1 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65660177 | C | CTCCTTCC others(17): Show |
intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02027.hp1 others(4): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0003t0001a0002c0001t0001 | a0001c0002t0001g0035a0001c0002t0001g0046a0001c0003t0001g0005others(4): Show | 7 | 112 | 0.0625 | 24 | c.269 others(45): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 24/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65920362 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046 | 1 | 112 | 0.0089 | 24 | c.198 others(43): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 19/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65936809 | C | CTCCTCCC others(17): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00642.hp2 others(50): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0002c0001others(3): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(7): Show | a0001c0002t0001g0011a0001c0002t0001g0014a0001c0002t0001g0020others(50): Show | 53 | 112 | 0.4732 | 24 | c.187 others(43): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 18/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65950699 | C | CTATTATT others(17): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0062 | 1 | 112 | 0.0089 | 24 | c.187 others(45): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 18/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65970437 | T | TGCATGTA others(17): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0005 | a0005c0009 | a0005c0009t0005 | a0005c0009t0005g0002 | 1 | 112 | 0.0089 | 24 | c.173 others(43): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 17/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66025920 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02622.hp2 HG02976.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020a0001c0002t0001g0021a0001c0002t0001g0061 | 3 | 112 | 0.0268 | 24 | c.165 others(43): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 16/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66034970 | T | TTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG03688.hp1 NA19063.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0051a0001c0002t0001g0060 | 2 | 112 | 0.0179 | 24 | c.121 others(43): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 12/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66034972 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02027.hp1 HG02602.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046a0001c0002t0001g0059a0001c0002t0001g0071others(4): Show | 7 | 112 | 0.0625 | 24 | c.121 others(43): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 12/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66034976 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0047 | 1 | 112 | 0.0089 | 24 | c.121 others(43): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 12/26 | chr17 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101938159 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00639.hp2 others(4): Show |
a0001a0009 | a0001c0001a0009c0016 | a0001c0001t0002a0001c0001t0009a0001c0001t0061others(1): Show | a0001c0001t0002g0180a0001c0001t0002g0205a0001c0001t0002g0241others(4): Show | 7 | 336 | 0.0208 | 24 | c.249 others(41): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP126_chr11_101910010_102006062 | 101938173 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0240 | 1 | 336 | 0.0030 | 24 | c.249 others(41): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP126_chr11_101910010_102006062 | 102002582 | T | TATAGGAC others(17): Show |
downstream_gene_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0002 | a0001c0002t0044 | a0001c0002t0044g0264 | 1 | 336 | 0.0030 | 24 | c.*49 others(35): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 1521 | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 102003184 | G | GTATATAT others(17): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0309a0001c0001t0012g0311 | 2 | 336 | 0.0060 | 24 | c.*55 others(35): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2123 | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 102003186 | G | GTATATAT others(17): Show |
downstream_gene_variant | MODIFIER | HG02083.hp1 HG03195.hp2 NA19063.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0031a0002c0003t0003 | a0001c0001t0001g0062a0001c0001t0031g0139a0002c0003t0003g0028 | 3 | 336 | 0.0089 | 24 | c.*55 others(35): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2125 | chr11 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80561896 | C | CTATATAT others(17): Show |
intron_variant | MODIFIER | HG02922.hp1 HG02976.hp2 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0004a0001c0014t0003 | a0001c0001t0004g0160a0001c0014t0003g0151 | 2 | 164 | 0.0122 | 24 | c.285 others(43): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 20/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80619367 | G | GACACACA others(17): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01515.hp2 HG01934.hp1 others(2): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0006others(1): Show | a0001c0001t0001a0002c0002t0003a0002c0006t0003others(1): Show | a0001c0001t0001g0034a0002c0002t0003g0068a0002c0006t0003g0096others(2): Show | 5 | 164 | 0.0305 | 24 | c.280 others(45): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80811818 | T | TTAGATAG others(17): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG01175.hp1 others(17): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0008a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0026a0001c0001t0001g0038a0001c0001t0001g0046others(17): Show | 20 | 164 | 0.1220 | 24 | c.121 others(45): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 13/24 | chr14 | TogoVar | ||||||
CEP131_chr17_81184596_81227965 | 81205336 | G | GGGGTAGG others(17): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01358.hp2 HG01496.hp1 others(42): Show |
a0001a0002a0005others(8): Show | a0001c0003a0001c0004a0002c0002others(11): Show | a0001c0003t0001a0001c0004t0001a0002c0002t0001others(11): Show | a0001c0003t0001g0295a0001c0004t0001g0025a0001c0004t0001g0271others(36): Show | 45 | 384 | 0.1172 | 24 | c.515 others(41): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 5/25 | chr17 | TogoVar | ||||||
CEP152_chr15_48732938_48816069 | 48765636 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 342 | 0.0029 | 24 | c.228 others(43): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 17/26 | chr15 | TogoVar | ||||||
CEP170_chr1_243119428_243260281 | 243159761 | T | TTGTGTGT others(17): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 303 | 0.0033 | 24 | c.367 others(43): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 13/19 | chr1 | TogoVar | ||||||
CEP170_chr1_243119428_243260281 | 243159763 | T | TTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00741.hp1 HG01891.hp2 others(25): Show |
a0001a0003a0010 | a0001c0001a0001c0014a0003c0003others(2): Show | a0001c0001t0001a0001c0014t0001a0003c0003t0003others(2): Show | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0014others(25): Show | 28 | 303 | 0.0924 | 24 | c.367 others(43): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 13/19 | chr1 | TogoVar | ||||||
CEP20_chr16_15860719_15893603 | 15861895 | C | CTATCACT others(17): Show |
downstream_gene_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0199 | 1 | 433 | 0.0023 | 24 | c.*55 others(35): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 3823 | chr16 | TogoVar | ||||||
CEP290_chr12_88044016_88147088 | 88086704 | T | TATCCATC others(17): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01074.hp2 HG02145.hp2 others(3): Show |
a0001a0002a0009 | a0001c0001a0001c0008a0002c0002others(1): Show | a0001c0001t0001a0001c0008t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0142a0001c0008t0001g0202a0002c0002t0001g0115others(3): Show | 6 | 234 | 0.0256 | 24 | c.419 others(41): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 180004906 | G | GCTTGCTT others(17): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0060 | 1 | 248 | 0.0040 | 24 | c.113 others(43): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP350_chr1_179949810_180119875 | 180004906 | G | GCTTGCTT others(17): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0142 | 1 | 248 | 0.0040 | 24 | c.113 others(43): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP350_chr1_179949810_180119875 | 180004906 | G | GCTTGCTT others(17): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02818.hp2 |
a0005a0009 | a0005c0005a0009c0010 | a0005c0005t0002a0009c0010t0002 | a0005c0005t0002g0126a0009c0010t0002g0239 | 2 | 248 | 0.0081 | 24 | c.113 others(43): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP350_chr1_179949810_180119875 | 180004906 | G | GCTTTCTT others(17): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0048 | 1 | 248 | 0.0040 | 24 | c.113 others(43): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP350_chr1_179949810_180119875 | 180103953 | C | CAAAATAT others(17): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02258.hp2 HG02622.hp1 others(5): Show |
a0002a0012 | a0002c0002a0012c0012 | a0002c0002t0002a0002c0002t0007a0012c0012t0009 | a0002c0002t0002g0128a0002c0002t0007g0001a0002c0002t0007g0067others(4): Show | 8 | 248 | 0.0323 | 24 | c.918 others(43): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP43_chr6_166994397_167057718 | 167042814 | T | TTGTGTGT others(17): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp2 others(33): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0012a0001c0001t0022a0001c0001t0037others(23): Show | a0001c0001t0012g0001a0001c0001t0012g0027a0001c0001t0012g0146others(30): Show | 36 | 376 | 0.0957 | 24 | c.*28 others(35): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 13/13 | 2862 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
CEP44_chr4_174278911_174325328 | 174320698 | G | GTGTATGT others(17): Show |
downstream_gene_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 388 | 0.0026 | 24 | c.*33 others(35): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 371 | chr4 | TogoVar | ||||||
CEP63_chr3_134481057_134570031 | 134547614 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0292 | 1 | 322 | 0.0031 | 24 | c.106 others(41): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CEP70_chr3_138489344_138599260 | 138499783 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01891.hp1 |
a0004 | a0004c0006 | a0004c0006t0005 | a0004c0006t0005g0030a0004c0006t0005g0031 | 2 | 318 | 0.0063 | 24 | c.165 others(41): Show |
CEP70 | ENSG00000114107.9 | transcript | ENST00000264982.8 | protein_coding | 16/17 | chr3 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 650104 | G | GTGAGGTG others(17): Show |
intron_variant | MODIFIER | HG01981.hp2 NA18942.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0074a0002c0002t0001g0084 | 2 | 91 | 0.0220 | 24 | c.177 others(43): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CEP85L_chr6_118455772_118656591 | 118542900 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0204 | 1 | 302 | 0.0033 | 24 | c.102 others(45): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 3/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118600300 | G | GGGGGGGG others(17): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0240 | 1 | 302 | 0.0033 | 24 | c.232 others(43): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar |