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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CENPVL2_chrX_51676212_51687831 | 51685792 | TTGTGTGT others(7): Show |
T | upstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 237 | 0.0042 | -14 | c.-29 others(25): Show |
CENPVL2 | ENSG00000283093.1 | transcript | ENST00000634648.1 | protein_coding | 2962 | chrX | TogoVar | ||||||
CENPV_chr17_16337537_16358469 | 16357858 | TCTCAAAC others(7): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(300): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0009a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0009t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0007others(87): Show | 303 | 356 | 0.8511 | -14 | c.-44 others(25): Show |
CENPV | ENSG00000166582.11 | transcript | ENST00000299736.5 | protein_coding | 4390 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65649073 | AACACACA others(7): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(42): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0002c0001others(2): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(5): Show | a0001c0002t0001g0014a0001c0002t0001g0034a0001c0002t0001g0050others(42): Show | 45 | 112 | 0.4018 | -14 | c.269 others(33): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 24/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65679129 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02145.hp2 NA19240.hp2 |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0001a0001c0003t0006a0002c0001t0001 | a0001c0003t0001g0009a0001c0003t0006g0003a0002c0001t0001g0064 | 3 | 112 | 0.0268 | -14 | c.269 others(33): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 24/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65772605 | CACACACA others(7): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02976.hp1 NA19056.hp2 |
a0002a0003 | a0002c0001a0003c0005 | a0002c0001t0001a0003c0005t0001 | a0002c0001t0001g0064a0002c0001t0001g0068a0003c0005t0001g0055 | 3 | 112 | 0.0268 | -14 | c.239 others(35): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 21/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65864913 | AGTGTGTG others(7): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG01884.hp2 HG01891.hp1 others(3): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0001a0002c0001t0001 | a0001c0003t0001g0007a0002c0001t0001g0012a0002c0001t0001g0013others(3): Show | 6 | 112 | 0.0536 | -14 | c.216 others(35): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 20/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65920362 | AATATATA others(7): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02486.hp2 HG02559.hp2 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0076a0001c0003t0001g0042a0001c0003t0001g0105others(2): Show | 5 | 112 | 0.0446 | -14 | c.198 others(33): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 19/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66086380 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0107 | 1 | 112 | 0.0089 | -14 | c.768 others(31): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 8/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66149874 | TTTTTTGT others(7): Show |
T | intron_variant | MODIFIER | NA18986.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0015 | 1 | 112 | 0.0089 | -14 | c.471 others(33): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 4/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66164886 | ATGTGTGT others(7): Show |
A | intron_variant | MODIFIER | HG02027.hp2 HG02572.hp2 |
a0001a0004 | a0001c0003a0004c0006 | a0001c0003t0002a0004c0006t0002 | a0001c0003t0002g0109a0004c0006t0002g0110 | 2 | 112 | 0.0179 | -14 | c.470 others(33): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 4/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66188275 | CCACACAC others(7): Show |
C | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0004 | 1 | 112 | 0.0089 | -14 | c.-9+ others(29): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 1/26 | chr17 | TogoVar | ||||||
CEP120_chr5_123339892_123428403 | 123357863 | ACATCTGA others(7): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02809.hp2 HG03130.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0180a0003c0003t0001g0181a0003c0003t0001g0182others(1): Show | 4 | 376 | 0.0106 | -14 | c.258 others(33): Show |
CEP120 | ENSG00000168944.17 | transcript | ENST00000306467.10 | protein_coding | 18/19 | chr5 | TogoVar | ||||||
CEP120_chr5_123339892_123428403 | 123389291 | CAACTGTT others(7): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02273.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0183a0003c0003t0001g0193 | 2 | 376 | 0.0053 | -14 | c.125 others(31): Show |
CEP120 | ENSG00000168944.17 | transcript | ENST00000306467.10 | protein_coding | 8/19 | chr5 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101917028 | ATGTGTGT others(7): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0036a0001c0001t0037 | a0001c0001t0036g0303a0001c0001t0037g0302 | 2 | 336 | 0.0060 | -14 | c.128 others(31): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP126_chr11_101910010_102006062 | 101921777 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | NA18984.hp1 NA19088.hp1 |
a0002a0015 | a0002c0003a0015c0011 | a0002c0003t0003a0015c0011t0007 | a0002c0003t0003g0078a0015c0011t0007g0068 | 2 | 336 | 0.0060 | -14 | c.129 others(29): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP126_chr11_101910010_102006062 | 102003180 | GTGTGTGT others(7): Show |
G | downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0128 | 1 | 336 | 0.0030 | -14 | c.*55 others(25): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2119 | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 102004895 | CATATATA others(7): Show |
C | downstream_gene_variant | MODIFIER | HG03516.hp1 NA18953.hp1 NA19007.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0057 | a0001c0001t0002g0181a0001c0001t0002g0224a0001c0001t0011g0130others(1): Show | 4 | 336 | 0.0119 | -14 | c.*72 others(25): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 3834 | chr11 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80619367 | GACACACA others(7): Show |
G | intron_variant | MODIFIER | HG02965.hp1 NA19030.hp1 |
a0004a0005 | a0004c0004a0005c0005 | a0004c0004t0008a0005c0005t0001 | a0004c0004t0008g0071a0005c0005t0001g0055 | 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 | 80647037 | GTATATAT others(7): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG02572.hp1 HG02965.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0002g0156a0001c0001t0004g0094a0001c0001t0005g0011others(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 | 80656277 | ATTTATAT others(7): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG02559.hp1 HG03492.hp1 others(1): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0004a0003c0003t0002others(1): Show | a0001c0001t0001g0039a0002c0002t0004g0146a0003c0003t0002g0120others(1): Show | 4 | 164 | 0.0244 | -14 | c.280 others(35): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80714299 | AACACACA others(7): Show |
A | intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0089 | 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 | 80729056 | GGGGTGTG others(7): Show |
G | intron_variant | MODIFIER | HG03492.hp1 NA19043.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0004 | a0001c0001t0005g0052a0002c0002t0004g0146 | 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 | 80856661 | CTGCGTGT others(7): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0010 | a0010c0017 | a0010c0017t0001 | a0010c0017t0001g0007 | 1 | 164 | 0.0061 | -14 | c.762 others(31): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 9/24 | chr14 | TogoVar | ||||||
CEP152_chr15_48732938_48816069 | 48765636 | ATTTTTTT others(7): Show |
A | intron_variant | MODIFIER | HG01255.hp1 HG02451.hp2 HG02486.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0016others(2): Show | 5 | 342 | 0.0146 | -14 | c.228 others(33): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 17/26 | chr15 | TogoVar | ||||||
CEP152_chr15_48732938_48816069 | 48796287 | TATACACA others(7): Show |
T | intron_variant | MODIFIER | HG02451.hp1 | a0018 | a0018c0025 | a0018c0025t0001 | a0018c0025t0001g0231 | 1 | 342 | 0.0029 | -14 | c.541 others(29): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 5/26 | chr15 | TogoVar | ||||||
CEP162_chr6_84119250_84232643 | 84159545 | ATATTTTT others(7): Show |
A | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0017 | 1 | 214 | 0.0047 | -14 | c.278 others(33): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 21/26 | chr6 | TogoVar | ||||||
CEP162_chr6_84119250_84232643 | 84159547 | ATTTTTTT others(7): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG02723.hp1 HG02965.hp2 others(1): Show |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0002a0002c0002t0002 | a0001c0004t0002g0103a0002c0002t0002g0119a0002c0002t0002g0146others(1): Show | 4 | 214 | 0.0187 | -14 | c.278 others(33): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 21/26 | chr6 | TogoVar | ||||||
CEP164_chr11_117322854_117418266 | 117396185 | GCTGGGGG others(7): Show |
G | intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0242 | 1 | 390 | 0.0026 | -14 | c.321 others(29): Show |
CEP164 | ENSG00000110274.16 | transcript | ENST00000278935.8 | protein_coding | 25/32 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP170_chr1_243119428_243260281 | 243258953 | TGGTCTTT others(7): Show |
T | upstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 303 | 0.0033 | -14 | c.-39 others(25): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 3673 | chr1 | TogoVar | ||||||
CEP20_chr16_15860719_15893603 | 15890556 | CAAAAAAA others(7): Show |
C | upstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 433 | 0.0023 | -14 | c.-19 others(25): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 1954 | chr16 | TogoVar | ||||||
CEP295NL_chr17_78885579_78908201 | 78893200 | GATGTGTG others(7): Show |
G | intron_variant | MODIFIER | HG02965.hp2 HG03098.hp1 HG03453.hp2 |
a0010 | a0010c0011 | a0010c0011t0001a0010c0011t0002 | a0010c0011t0001g0199a0010c0011t0002g0119a0010c0011t0002g0126 | 3 | 430 | 0.0070 | -14 | c.45- others(27): Show |
CEP295NL | ENSG00000178404.11 | transcript | ENST00000322630.3 | protein_coding | 2/2 | chr17 | TogoVar | ||||||
CEP295NL_chr17_78885579_78908201 | 78893381 | GTGCAGGG others(7): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG02074.hp2 NA18948.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0133 | 6 | 430 | 0.0140 | -14 | c.45- others(27): Show |
CEP295NL | ENSG00000178404.11 | transcript | ENST00000322630.3 | protein_coding | 2/2 | chr17 | TogoVar | ||||||
CEP295_chr11_93656682_93735358 | 93726053 | TTCCCTAC others(7): Show |
T | intron_variant | MODIFIER | HG02809.hp1 HG02886.hp2 |
a0010 | a0010c0018 | a0010c0018t0001 | a0010c0018t0001g0311a0010c0018t0001g0312 | 2 | 354 | 0.0057 | -14 | c.649 others(31): Show |
CEP295 | ENSG00000166004.15 | transcript | ENST00000325212.11 | protein_coding | 23/29 | chr11 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 179987338 | TGTTATGA others(7): Show |
T | intron_variant | MODIFIER | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
a0006a0009 | a0006c0006a0009c0010 | a0006c0006t0002a0009c0010t0002 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(6): Show | 9 | 248 | 0.0363 | -14 | c.120 others(27): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP41_chr7_130388771_130446016 | 130392347 | GACACACA others(7): Show |
G | downstream_gene_variant | MODIFIER | HG01167.hp2 HG03688.hp2 HG03942.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0038 | a0001c0001t0003g0063a0001c0001t0003g0071a0001c0001t0038g0246others(1): Show | 4 | 346 | 0.0116 | -14 | c.*65 others(25): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 1423 | chr7 | TogoVar | ||||||
CEP43_chr6_166994397_167057718 | 167033099 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02280.hp2 HG02622.hp2 others(5): Show |
a0003 | a0003c0003 | a0003c0003t0009a0003c0003t0081a0003c0003t0082others(1): Show | a0003c0003t0009g0035a0003c0003t0009g0036a0003c0003t0009g0191others(3): Show | 8 | 376 | 0.0213 | -14 | c.102 others(31): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP43_chr6_166994397_167057718 | 167047400 | AAGTTATT others(7): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(135): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(70): Show | a0001c0001t0002g0006a0001c0001t0002g0007a0001c0001t0002g0009others(127): Show | 138 | 376 | 0.3670 | -14 | c.*74 others(25): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 13/13 | 7426 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
CEP57L1_chr6_109090507_109179418 | 109120905 | GACACACG others(7): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG03453.hp1 NA18906.hp1 others(1): Show |
a0003 | a0003c0005 | a0003c0005t0032a0003c0005t0033a0003c0005t0034others(1): Show | a0003c0005t0032g0004a0003c0005t0033g0004a0003c0005t0034g0208others(1): Show | 4 | 228 | 0.0175 | -14 | c.-3- others(31): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP57L1_chr6_109090507_109179418 | 109120912 | GCACACAC others(7): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG02976.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0021a0001c0001t0024others(1): Show | a0001c0001t0020g0181a0001c0001t0020g0194a0001c0001t0021g0216others(2): Show | 5 | 228 | 0.0219 | -14 | c.-3- others(31): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP57L1_chr6_109090507_109179418 | 109142946 | GCTCTCTC others(7): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG01169.hp2 others(7): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0001g0038a0001c0001t0001g0188a0001c0001t0005g0184others(7): Show | 10 | 228 | 0.0439 | -14 | c.-3- others(29): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP57L1_chr6_109090507_109179418 | 109152636 | CGTGTGTG others(7): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG01081.hp1 others(27): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(12): Show | a0001c0001t0001g0032a0001c0001t0001g0103a0001c0001t0001g0188others(26): Show | 30 | 228 | 0.1316 | -14 | c.463 others(31): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP57L1_chr6_109090507_109179418 | 109177637 | AATATATA others(7): Show |
A | downstream_gene_variant | MODIFIER | HG03486.hp1 HG03704.hp2 NA20905.hp2 others(1): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0003a0004c0004t0001 | a0002c0002t0003g0001a0004c0004t0001g0136a0004c0004t0001g0137 | 4 | 228 | 0.0175 | -14 | c.*14 others(27): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 3220 | chr6 | TogoVar | ||||||
CEP57_chr11_95785498_95837693 | 95820367 | CTGAGGTC others(7): Show |
C | intron_variant | MODIFIER | NA18943.hp1 NA19054.hp1 NA19058.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030a0001c0001t0003g0142 | 3 | 340 | 0.0088 | -14 | c.699 others(31): Show |
CEP57 | ENSG00000166037.11 | transcript | ENST00000325542.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP63_chr3_134481057_134570031 | 134548650 | AGTAATAC others(7): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00544.hp2 others(95): Show |
a0001a0006 | a0001c0001a0006c0012 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0009others(90): Show | 98 | 322 | 0.3044 | -14 | c.106 others(31): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CEP63_chr3_134481057_134570031 | 134551724 | CATATATA others(7): Show |
C | intron_variant | MODIFIER | NA19056.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0284 | 1 | 322 | 0.0031 | -14 | c.138 others(31): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CEP63_chr3_134481057_134570031 | 134551742 | TATATATA others(7): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp2 others(101): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0024others(10): Show | a0001c0001t0001g0008a0001c0001t0001g0211a0001c0001t0001g0221others(98): Show | 104 | 322 | 0.3230 | -14 | c.138 others(31): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CEP63_chr3_134481057_134570031 | 134561943 | TACCTGGA others(7): Show |
T | 3_prime_UTR_variant | MODIFIER | NA19082.hp2 | a0002 | a0002c0002 | a0002c0002t0026 | a0002c0002t0026g0304 | 1 | 322 | 0.0031 | -14 | c.*41 others(23): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 15/15 | 411 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
CEP70_chr3_138489344_138599260 | 138592547 | TGGGGGTA others(7): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp1 HG02615.hp2 others(2): Show |
a0001a0004 | a0001c0004a0004c0006 | a0001c0004t0006a0004c0006t0005 | a0001c0004t0006g0029a0001c0004t0006g0032a0004c0006t0005g0028others(2): Show | 5 | 318 | 0.0157 | -14 | c.-10 others(31): Show |
CEP70 | ENSG00000114107.9 | transcript | ENST00000264982.8 | protein_coding | 1/17 | chr3 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 648590 | TGACTGTG others(7): Show |
T | intron_variant | MODIFIER | HG01255.hp1 HG02015.hp1 HG02109.hp1 others(5): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0010others(5): Show | 8 | 91 | 0.0879 | -14 | c.177 others(31): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CEP72_chr5_607340_658553 | 648737 | TGACTGTG others(7): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01255.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0028a0001c0006t0001g0012 | 2 | 91 | 0.0220 | -14 | c.177 others(31): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |