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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP112_chr17_65630537_66197133 | 65640137 | C | CATATAT | intron_variant | MODIFIER | HG03579.hp1 NA18522.hp1 |
a0001a0005 | a0001c0003a0005c0009 | a0001c0003t0001a0005c0009t0005 | a0001c0003t0001g0106a0005c0009t0005g0002 | 2 | 112 | 0.0179 | 6 | c.279 others(23): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 25/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65640154 | A | ATATATT | intron_variant | MODIFIER | HG00438.hp2 HG01109.hp2 HG01891.hp1 others(1): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0006a0002c0001t0001 | a0001c0003t0006g0003a0002c0001t0001g0013a0002c0001t0001g0017others(1): Show | 4 | 112 | 0.0357 | 6 | c.279 others(23): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 25/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65640154 | A | ATATTTT | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp2 HG02622.hp2 others(5): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(1): Show | a0001c0002t0001g0021a0001c0002t0001g0069a0001c0002t0001g0084others(5): Show | 8 | 112 | 0.0714 | 6 | c.279 others(23): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 25/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65649073 | A | AACACAC | intron_variant | MODIFIER | HG02280.hp1 HG06807.hp1 |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0002a0002c0001t0001 | a0001c0003t0002g0112a0002c0001t0001g0100 | 2 | 112 | 0.0179 | 6 | c.269 others(25): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 24/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65704420 | T | TACACAC | intron_variant | MODIFIER | HG01346.hp2 HG01891.hp1 HG02027.hp1 others(10): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(2): Show | a0001c0002t0001g0021a0001c0002t0001g0046a0001c0002t0001g0051others(10): Show | 13 | 112 | 0.1161 | 6 | c.260 others(27): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 23/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65797057 | A | AAACAAC | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp2 HG01081.hp2 others(19): Show |
a0001a0002 | a0001c0002a0002c0001a0002c0008 | a0001c0002t0001a0002c0001t0001a0002c0001t0002others(2): Show | a0001c0002t0001g0034a0001c0002t0001g0035a0001c0002t0001g0057others(19): Show | 22 | 112 | 0.1964 | 6 | c.239 others(27): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 21/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65804285 | C | CAATCTA | intron_variant | MODIFIER | HG02486.hp2 HG02559.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0042a0001c0003t0001g0107 | 2 | 112 | 0.0179 | 6 | c.239 others(27): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 21/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65881401 | G | GGTGTGT | intron_variant | MODIFIER | HG01109.hp2 NA19240.hp2 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0006 | a0001c0003t0001g0009a0001c0003t0006g0003 | 2 | 112 | 0.0179 | 6 | c.216 others(27): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 20/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65883263 | C | CATATAT | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp1 HG02486.hp2 others(2): Show |
a0001a0002 | a0001c0003a0002c0001a0002c0004 | a0001c0003t0001a0002c0001t0003a0002c0004t0001 | a0001c0003t0001g0005a0001c0003t0001g0042a0001c0003t0001g0107others(2): Show | 5 | 112 | 0.0446 | 6 | c.216 others(27): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 20/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65916250 | A | AGTGTGT | intron_variant | MODIFIER | HG00438.hp1 HG02723.hp2 HG03195.hp2 others(1): Show |
a0001a0002a0003 | a0001c0002a0002c0001a0003c0005 | a0001c0002t0001a0002c0001t0001a0003c0005t0001 | a0001c0002t0001g0050a0002c0001t0001g0024a0002c0001t0001g0083others(1): Show | 4 | 112 | 0.0357 | 6 | c.198 others(27): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 19/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65916287 | G | GTGTGTA | intron_variant | MODIFIER | HG02486.hp1 HG02572.hp2 |
a0004 | a0004c0006 | a0004c0006t0001a0004c0006t0002 | a0004c0006t0001g0022a0004c0006t0002g0110 | 2 | 112 | 0.0179 | 6 | c.198 others(27): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 19/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65920362 | A | AATATAT | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG00741.hp2 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0038a0002c0001t0001g0039a0002c0001t0001g0096others(1): Show | 4 | 112 | 0.0357 | 6 | c.198 others(25): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 19/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65926713 | A | AAATAAT | intron_variant | MODIFIER | HG01243.hp1 HG02486.hp2 HG02559.hp2 others(3): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0001a0002c0001t0001 | a0001c0003t0001g0042a0001c0003t0001g0082a0001c0003t0001g0105others(3): Show | 6 | 112 | 0.0536 | 6 | c.198 others(23): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 19/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65931164 | T | TGAGGAG | intron_variant | MODIFIER | HG01109.hp2 HG01346.hp2 HG02027.hp2 others(11): Show |
a0001a0002a0004others(1): Show | a0001c0003a0002c0001a0004c0006others(1): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0006others(5): Show | a0001c0003t0001g0006a0001c0003t0001g0007a0001c0003t0001g0009others(11): Show | 14 | 112 | 0.1250 | 6 | c.187 others(25): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 18/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65937669 | G | GGTCAGC | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00642.hp2 others(34): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0001a0003c0005t0001 | a0001c0002t0001g0011a0001c0002t0001g0020a0001c0002t0001g0021others(34): Show | 37 | 112 | 0.3304 | 6 | c.187 others(25): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 18/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65950699 | C | CTAGTAG | intron_variant | MODIFIER | HG02486.hp2 HG02559.hp2 HG02723.hp2 others(3): Show |
a0001a0002 | a0001c0003a0002c0001a0002c0004 | a0001c0003t0001a0002c0001t0001a0002c0004t0001 | a0001c0003t0001g0042a0001c0003t0001g0107a0002c0001t0001g0023others(3): Show | 6 | 112 | 0.0536 | 6 | c.187 others(27): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 18/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65956409 | T | TACACAC | intron_variant | MODIFIER | HG03195.hp2 NA18522.hp1 |
a0002a0005 | a0002c0001a0005c0009 | a0002c0001t0001a0005c0009t0005 | a0002c0001t0001g0083a0005c0009t0005g0002 | 2 | 112 | 0.0179 | 6 | c.187 others(25): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 18/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65999775 | G | GTGTTCT | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00642.hp2 others(38): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0001a0003c0005t0001 | a0001c0002t0001g0011a0001c0002t0001g0014a0001c0002t0001g0020others(38): Show | 41 | 112 | 0.3661 | 6 | c.173 others(25): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 17/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66009189 | T | TTGTGTG | intron_variant | MODIFIER | HG01891.hp2 NA18522.hp1 |
a0001a0005 | a0001c0003a0005c0009 | a0001c0003t0001a0005c0009t0005 | a0001c0003t0001g0005a0005c0009t0005g0002 | 2 | 112 | 0.0179 | 6 | c.165 others(25): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 16/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66025920 | T | TACACAC | intron_variant | MODIFIER | HG02451.hp1 NA18522.hp1 |
a0002a0005 | a0002c0001a0005c0009 | a0002c0001t0003a0005c0009t0005 | a0002c0001t0003g0019a0005c0009t0005g0002 | 2 | 112 | 0.0179 | 6 | c.165 others(25): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 16/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66025968 | C | CCACACA | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00642.hp1 others(47): Show |
a0002a0005 | a0002c0001a0002c0004a0002c0007others(2): Show | a0002c0001t0001a0002c0001t0002a0002c0001t0003others(6): Show | a0002c0001t0001g0012a0002c0001t0001g0013a0002c0001t0001g0015others(47): Show | 50 | 112 | 0.4464 | 6 | c.165 others(25): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 16/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66029317 | T | TTAATCA | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00642.hp2 others(38): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0001a0003c0005t0001 | a0001c0002t0001g0011a0001c0002t0001g0014a0001c0002t0001g0020others(38): Show | 41 | 112 | 0.3661 | 6 | c.137 others(21): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 13/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66092356 | A | AACACAC | intron_variant | MODIFIER | HG00735.hp2 HG01258.hp1 HG01517.hp2 others(11): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001a0002c0001t0008 | a0001c0002t0001g0081a0001c0002t0001g0090a0002c0001t0001g0032others(11): Show | 14 | 112 | 0.1250 | 6 | c.768 others(23): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 8/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66135838 | T | TATATAG | intron_variant | MODIFIER | HG01346.hp2 HG01891.hp2 HG02257.hp2 others(4): Show |
a0001a0002a0006 | a0001c0003a0002c0001a0002c0007others(1): Show | a0001c0003t0001a0002c0001t0003a0002c0007t0001others(1): Show | a0001c0003t0001g0005a0001c0003t0001g0006a0001c0003t0001g0007others(4): Show | 7 | 112 | 0.0625 | 6 | c.471 others(23): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 4/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66164886 | A | ATGTGTG | intron_variant | MODIFIER | HG01243.hp2 HG06807.hp1 NA18983.hp1 others(4): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0103a0002c0001t0001g0095a0002c0001t0001g0096others(4): Show | 7 | 112 | 0.0625 | 6 | c.470 others(25): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 4/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66168419 | G | GTATATA | intron_variant | MODIFIER | HG02027.hp2 HG02145.hp1 HG02280.hp1 others(1): Show |
a0001a0002a0004 | a0001c0003a0002c0001a0004c0006 | a0001c0003t0002a0002c0001t0002a0004c0006t0002 | a0001c0003t0002g0109a0001c0003t0002g0112a0002c0001t0002g0111others(1): Show | 4 | 112 | 0.0357 | 6 | c.470 others(23): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 4/26 | chr17 | TogoVar | ||||||
CEP120_chr5_123339892_123428403 | 123409989 | A | ACCACAC | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00558.hp2 others(60): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0002c0002t0014a0003c0003t0001others(1): Show | a0002c0002t0001g0127a0002c0002t0001g0138a0002c0002t0001g0146others(51): Show | 63 | 376 | 0.1676 | 6 | c.463 others(23): Show |
CEP120 | ENSG00000168944.17 | transcript | ENST00000306467.10 | protein_coding | 4/19 | chr5 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101954636 | T | TTATATA | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp2 HG02615.hp2 others(7): Show |
a0003 | a0003c0004 | a0003c0004t0010a0003c0004t0021a0003c0004t0038others(2): Show | a0003c0004t0010g0009a0003c0004t0010g0307a0003c0004t0010g0308others(6): Show | 10 | 336 | 0.0298 | 6 | c.507 others(23): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP126_chr11_101910010_102006062 | 101988778 | G | GTATATA | intron_variant | MODIFIER | HG00408.hp1 HG00673.hp2 HG03098.hp1 others(8): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0001t0004a0001c0001t0022others(3): Show | a0001c0001t0002g0205a0001c0001t0002g0258a0001c0001t0004g0281others(8): Show | 11 | 336 | 0.0327 | 6 | c.324 others(25): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP126_chr11_101910010_102006062 | 102003180 | G | GTATATA | downstream_gene_variant | MODIFIER | HG01192.hp1 HG01257.hp1 HG01258.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0009 | a0001c0001t0002g0295a0001c0001t0004g0293a0001c0001t0009g0008 | 4 | 336 | 0.0119 | 6 | c.*55 others(17): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2119 | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 102004895 | C | CATATAT | downstream_gene_variant | MODIFIER | HG01975.hp1 HG02572.hp1 HG02970.hp1 others(5): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(1): Show | a0001c0001t0001g0064a0001c0001t0001g0065a0001c0001t0001g0092others(5): Show | 8 | 336 | 0.0238 | 6 | c.*72 others(17): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 3834 | chr11 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80541443 | T | TTAAAAA | intron_variant | MODIFIER | HG04199.hp2 NA19009.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0033a0002c0002t0003g0092 | 2 | 164 | 0.0122 | 6 | c.288 others(27): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 21/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80561896 | C | CTATATA | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02559.hp2 others(10): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0016a0001c0001t0003g0149a0001c0001t0005g0009others(10): Show | 13 | 164 | 0.0793 | 6 | c.285 others(25): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 20/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80617219 | C | CTTTTTT | intron_variant | MODIFIER | HG00735.hp1 HG02083.hp1 HG02965.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0026a0001c0001t0001g0040a0001c0001t0001g0041others(8): Show | 11 | 164 | 0.0671 | 6 | c.280 others(27): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80619367 | G | GACACAC | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG02165.hp1 others(9): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0022a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0027a0001c0001t0002g0124a0001c0001t0002g0128others(9): Show | 12 | 164 | 0.0732 | 6 | c.280 others(27): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80626470 | C | CAAAAAA | intron_variant | MODIFIER | HG02559.hp1 HG02615.hp2 HG03130.hp2 others(4): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0001a0002c0002t0003a0004c0004t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023others(4): Show | 7 | 164 | 0.0427 | 6 | c.280 others(27): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80628842 | G | GGGGCCA | intron_variant | MODIFIER | HG01081.hp1 HG01123.hp2 HG01175.hp1 others(66): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0008a0001c0009others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0012others(66): Show | 69 | 164 | 0.4207 | 6 | c.280 others(27): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80629559 | C | CTGATAA | intron_variant | MODIFIER | HG01081.hp1 HG01123.hp2 HG01175.hp1 others(66): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0008a0001c0009others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0012others(66): Show | 69 | 164 | 0.4207 | 6 | c.280 others(27): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80673645 | C | CAAAAAA | intron_variant | MODIFIER | HG00733.hp1 HG01109.hp1 HG01261.hp2 others(10): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0008a0002c0002others(3): Show | a0001c0001t0001a0001c0008t0005a0002c0002t0003others(5): Show | a0001c0001t0001g0016a0001c0001t0001g0030a0001c0008t0005g0018others(10): Show | 13 | 164 | 0.0793 | 6 | c.280 others(27): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80677508 | C | CAAAAAA | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG00733.hp2 others(62): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0001c0012others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0019others(62): Show | 65 | 164 | 0.3963 | 6 | c.280 others(27): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80678058 | A | ATATATG | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01123.hp1 others(25): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0019a0002c0002others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(7): Show | a0001c0001t0002g0099a0001c0001t0002g0102a0001c0001t0002g0104others(25): Show | 28 | 164 | 0.1707 | 6 | c.280 others(27): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80711295 | T | TTGTGTG | intron_variant | MODIFIER | HG00642.hp2 HG02083.hp2 HG02165.hp2 others(6): Show |
a0001a0003a0005 | a0001c0001a0001c0009a0003c0003others(1): Show | a0001c0001t0005a0001c0009t0006a0003c0003t0002others(2): Show | a0001c0001t0005g0002a0001c0001t0005g0043a0001c0001t0005g0053others(6): Show | 9 | 164 | 0.0549 | 6 | c.280 others(27): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80717989 | G | GTGTGTA | intron_variant | MODIFIER | HG02809.hp1 HG02976.hp2 HG03139.hp2 others(1): Show |
a0001a0002 | a0001c0009a0001c0014a0002c0002 | a0001c0009t0006a0001c0014t0003a0002c0002t0003 | a0001c0009t0006g0153a0001c0009t0006g0154a0001c0014t0003g0151others(1): Show | 4 | 164 | 0.0244 | 6 | c.280 others(27): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80729058 | G | GGTGTGT | intron_variant | MODIFIER | HG01515.hp1 HG01515.hp2 HG02004.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0001a0002c0002t0003a0002c0006t0003 | a0001c0001t0001g0030a0002c0002t0003g0079a0002c0006t0003g0096others(1): Show | 4 | 164 | 0.0244 | 6 | c.280 others(27): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80732471 | G | GGTGTGT | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG01109.hp2 others(21): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0008a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0003a0001c0001t0001g0023a0001c0001t0001g0026others(21): Show | 24 | 164 | 0.1463 | 6 | c.280 others(27): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80733339 | C | CGTGTGT | intron_variant | MODIFIER | HG02280.hp1 HG03195.hp2 HG03486.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0002c0002t0004 | a0001c0001t0002g0129a0001c0001t0002g0130a0001c0001t0005g0009others(4): Show | 7 | 164 | 0.0427 | 6 | c.280 others(25): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80740449 | T | TACACAC | intron_variant | MODIFIER | HG02615.hp1 HG06807.hp2 NA18906.hp2 others(1): Show |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0002a0001c0001t0005a0007c0010t0005 | a0001c0001t0002g0156a0001c0001t0002g0157a0001c0001t0005g0002others(1): Show | 4 | 164 | 0.0244 | 6 | c.280 others(25): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80821600 | T | TACACAC | intron_variant | MODIFIER | HG00733.hp1 HG00741.hp1 HG02004.hp1 others(1): Show |
a0002 | a0002c0002a0002c0006 | a0002c0002t0004a0002c0006t0003 | a0002c0002t0004g0082a0002c0002t0004g0083a0002c0002t0004g0152others(1): Show | 4 | 164 | 0.0244 | 6 | c.120 others(25): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 13/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80880908 | A | AATAATT | intron_variant | MODIFIER | NA18979.hp2 NA19086.hp1 NA21309.hp2 |
a0001a0010 | a0001c0001a0010c0017 | a0001c0001t0002a0001c0001t0006a0010c0017t0001 | a0001c0001t0002g0122a0001c0001t0006g0114a0010c0017t0001g0007 | 3 | 164 | 0.0183 | 6 | c.645 others(25): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 8/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80880910 | T | TAATAAG | intron_variant | MODIFIER | HG02922.hp2 HG03195.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0129a0001c0001t0002g0130a0001c0001t0005g0009others(1): Show | 4 | 164 | 0.0244 | 6 | c.645 others(25): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 8/24 | chr14 | TogoVar |