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 | 65974953 | TAAA | T | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00642.hp2 others(52): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0002c0001others(3): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(7): Show | a0001c0002t0001g0011a0001c0002t0001g0014a0001c0002t0001g0020others(52): Show | 55 | 112 | 0.4911 | -3 | c.173 others(24): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 17/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65989962 | CTTG | C | intron_variant | MODIFIER | HG02257.hp2 HG02486.hp1 HG03579.hp2 |
a0001a0004 | a0001c0003a0004c0006 | a0001c0003t0001a0001c0003t0007a0004c0006t0001 | a0001c0003t0001g0007a0001c0003t0007g0004a0004c0006t0001g0022 | 3 | 112 | 0.0268 | -3 | c.173 others(24): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 17/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65991502 | ATCT | A | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00642.hp2 others(38): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0001a0003c0005t0001 | a0001c0002t0001g0011a0001c0002t0001g0014a0001c0002t0001g0020others(38): Show | 41 | 112 | 0.3661 | -3 | c.173 others(24): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 17/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66017999 | CAAA | C | intron_variant | MODIFIER | HG00438.hp2 HG01081.hp2 HG01123.hp1 others(9): Show |
a0002 | a0002c0001a0002c0004 | a0002c0001t0001a0002c0001t0004a0002c0004t0001 | a0002c0001t0001g0012a0002c0001t0001g0013a0002c0001t0001g0015others(9): Show | 12 | 112 | 0.1071 | -3 | c.165 others(22): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 16/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66032352 | GAAA | G | 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 | -3 | c.121 others(22): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 12/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66037603 | CTTA | C | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00642.hp1 others(48): Show |
a0002a0005 | a0002c0001a0002c0004a0002c0007others(2): Show | a0002c0001t0001a0002c0001t0002a0002c0001t0003others(6): Show | a0002c0001t0001g0012a0002c0001t0001g0013a0002c0001t0001g0015others(48): Show | 51 | 112 | 0.4554 | -3 | c.121 others(22): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 12/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66043428 | TAAC | T | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00642.hp2 others(38): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0001a0003c0005t0001 | a0001c0002t0001g0011a0001c0002t0001g0014a0001c0002t0001g0020others(38): Show | 41 | 112 | 0.3661 | -3 | c.121 others(24): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 12/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66051351 | TTTA | T | intron_variant | MODIFIER | HG00438.hp2 HG01081.hp2 HG01123.hp1 others(7): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0001a0002c0001t0001a0002c0001t0004 | a0001c0003t0001g0033a0002c0001t0001g0015a0002c0001t0001g0016others(7): Show | 10 | 112 | 0.0893 | -3 | c.121 others(22): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 12/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66053502 | AAAT | A | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00642.hp2 others(38): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0001a0003c0005t0001 | a0001c0002t0001g0011a0001c0002t0001g0014a0001c0002t0001g0020others(38): Show | 41 | 112 | 0.3661 | -3 | c.121 others(20): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 12/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66067578 | CATA | C | intron_variant | MODIFIER | HG02486.hp2 HG02559.hp2 HG06807.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0042a0001c0003t0001g0082a0001c0003t0001g0107 | 3 | 112 | 0.0268 | -3 | c.856 others(18): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 9/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66076249 | AGGC | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(105): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0003a0002c0001others(7): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(15): Show | a0001c0002t0001g0011a0001c0002t0001g0014a0001c0002t0001g0020others(105): Show | 108 | 112 | 0.9643 | -3 | c.769 others(20): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 8/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66103658 | TAAG | T | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG00735.hp2 others(24): Show |
a0001a0002a0005 | a0001c0002a0002c0001a0005c0009 | a0001c0002t0001a0002c0001t0001a0002c0001t0003others(2): Show | a0001c0002t0001g0090a0002c0001t0001g0031a0002c0001t0001g0032others(24): Show | 27 | 112 | 0.2411 | -3 | c.643 others(20): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 6/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66132168 | CAAA | C | intron_variant | MODIFIER | HG00438.hp2 HG01081.hp2 HG01123.hp1 others(5): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001a0002c0001t0003others(1): Show | a0001c0002t0001g0014a0002c0001t0001g0012a0002c0001t0001g0013others(5): Show | 8 | 112 | 0.0714 | -3 | c.564 others(18): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 5/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66154003 | GAAA | G | intron_variant | MODIFIER | HG01346.hp2 HG01891.hp2 HG02257.hp2 others(4): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0003t0001a0002c0001t0001 | a0001c0002t0001g0034a0001c0002t0001g0035a0001c0002t0001g0072others(4): Show | 7 | 112 | 0.0625 | -3 | c.470 others(22): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 4/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66157705 | CAAA | C | intron_variant | MODIFIER | HG02027.hp2 HG02145.hp1 HG02280.hp1 others(1): Show |
a0001a0002a0004 | a0001c0003a0002c0001a0004c0006 | a0001c0003t0002a0002c0001t0002a0004c0006t0002 | a0001c0003t0002g0109a0001c0003t0002g0112a0002c0001t0002g0111others(1): Show | 4 | 112 | 0.0357 | -3 | c.470 others(22): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 4/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66178440 | GCTC | G | intron_variant | MODIFIER | HG02027.hp2 HG02145.hp1 HG02280.hp1 others(1): Show |
a0001a0002a0004 | a0001c0003a0002c0001a0004c0006 | a0001c0003t0002a0002c0001t0002a0004c0006t0002 | a0001c0003t0002g0109a0001c0003t0002g0112a0002c0001t0002g0111others(1): Show | 4 | 112 | 0.0357 | -3 | c.107 others(20): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 2/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66181799 | CAAT | C | intron_variant | MODIFIER | HG02027.hp2 HG02145.hp1 HG02280.hp1 others(1): Show |
a0001a0002a0004 | a0001c0003a0002c0001a0004c0006 | a0001c0003t0002a0002c0001t0002a0004c0006t0002 | a0001c0003t0002g0109a0001c0003t0002g0112a0002c0001t0002g0111others(1): Show | 4 | 112 | 0.0357 | -3 | c.106 others(20): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 2/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66188584 | GTTT | G | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG01081.hp2 others(24): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0002c0001others(3): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(6): Show | a0001c0002t0001g0014a0001c0002t0001g0085a0001c0002t0001g0086others(24): Show | 27 | 112 | 0.2411 | -3 | c.-9+ others(18): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 1/26 | chr17 | TogoVar | ||||||
CEP120_chr5_123339892_123428403 | 123341913 | TGAG | T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(252): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(13): Show | a0001c0001t0002a0001c0005t0003a0001c0005t0005others(24): Show | a0001c0001t0002g0026a0001c0001t0002g0236a0001c0001t0002g0321others(225): Show | 255 | 376 | 0.6782 | -3 | c.*46 others(14): Show |
CEP120 | ENSG00000168944.17 | transcript | ENST00000306467.10 | protein_coding | 2978 | chr5 | TogoVar | ||||||
CEP120_chr5_123339892_123428403 | 123384293 | TCTC | T | intron_variant | MODIFIER | HG00735.hp2 HG03491.hp2 HG03492.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017a0002c0002t0001g0105 | 3 | 376 | 0.0080 | -3 | c.176 others(20): Show |
CEP120 | ENSG00000168944.17 | transcript | ENST00000306467.10 | protein_coding | 11/19 | chr5 | TogoVar | ||||||
CEP120_chr5_123339892_123428403 | 123414971 | CAAA | C | intron_variant | MODIFIER | HG00609.hp2 HG00733.hp1 HG01070.hp2 others(24): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0002a0001c0005t0003a0002c0002t0001others(1): Show | a0001c0001t0002g0035a0001c0005t0003g0323a0002c0002t0001g0095others(22): Show | 27 | 376 | 0.0718 | -3 | c.321 others(20): Show |
CEP120 | ENSG00000168944.17 | transcript | ENST00000306467.10 | protein_coding | 3/19 | chr5 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101911094 | CTTT | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00621.hp2 others(53): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0013others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0046a0001c0001t0001g0081a0001c0001t0001g0082others(52): Show | 56 | 336 | 0.1667 | -3 | c.-41 others(14): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 3915 | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101917029 | TGTG | T | intron_variant | MODIFIER | HG02055.hp2 HG02886.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0031a0001c0001t0032 | a0001c0001t0031g0139a0001c0001t0031g0141a0001c0001t0032g0140others(1): Show | 4 | 336 | 0.0119 | -3 | c.128 others(20): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 1/10 | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101953185 | TATC | T | intron_variant | MODIFIER | HG00741.hp1 HG01175.hp2 HG01255.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0217a0001c0001t0002g0268a0001c0001t0002g0284others(3): Show | 6 | 336 | 0.0179 | -3 | c.507 others(20): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP126_chr11_101910010_102006062 | 101953399 | TTTG | T | intron_variant | MODIFIER | HG02055.hp2 HG02886.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0031a0001c0001t0032 | a0001c0001t0031g0139a0001c0001t0031g0141a0001c0001t0032g0140others(1): Show | 4 | 336 | 0.0119 | -3 | c.507 others(20): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP126_chr11_101910010_102006062 | 101955206 | TTAA | T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(41): Show |
a0002a0007a0008others(2): Show | a0002c0003a0007c0007a0008c0010others(2): Show | a0002c0003t0003a0002c0003t0007a0002c0003t0029others(5): Show | a0002c0003t0003g0002a0002c0003t0003g0011a0002c0003t0003g0012others(41): Show | 44 | 336 | 0.1310 | -3 | c.507 others(20): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP126_chr11_101910010_102006062 | 101967022 | TTTC | T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(41): Show |
a0001a0002a0007others(3): Show | a0001c0001a0002c0003a0007c0007others(3): Show | a0001c0001t0012a0002c0003t0003a0002c0003t0007others(6): Show | a0001c0001t0012g0309a0001c0001t0012g0310a0001c0001t0012g0311others(41): Show | 44 | 336 | 0.1310 | -3 | c.284 others(22): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP126_chr11_101910010_102006062 | 101992167 | AAGC | A | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00621.hp2 others(120): Show |
a0001a0009 | a0001c0001a0001c0013a0009c0016 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(19): Show | a0001c0001t0002g0051a0001c0001t0002g0054a0001c0001t0002g0079others(117): Show | 123 | 336 | 0.3661 | -3 | c.324 others(20): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP128_chr14_80491479_80946738 | 80496595 | TAGG | T | 3_prime_UTR_variant | MODIFIER | HG02004.hp2 HG02132.hp1 HG02738.hp2 |
a0004a0013 | a0004c0004a0004c0013a0013c0021 | a0004c0004t0012a0004c0013t0007a0013c0021t0007 | a0004c0004t0012g0103a0004c0013t0007g0095a0013c0021t0007g0088 | 3 | 164 | 0.0183 | -3 | c.*88 others(12): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 25/25 | 881 | chr14 | TogoVar | |||||
CEP128_chr14_80491479_80946738 | 80584161 | TTTG | T | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG00735.hp2 others(38): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0001c0009others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0029others(38): Show | 41 | 164 | 0.2500 | -3 | c.280 others(22): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80599265 | CTTT | C | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG00741.hp1 others(31): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0008a0001c0019others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0012others(31): Show | 34 | 164 | 0.2073 | -3 | c.280 others(24): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80613292 | ATTT | A | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG00735.hp1 others(66): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0009a0001c0015others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0029others(66): Show | 69 | 164 | 0.4207 | -3 | c.280 others(24): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80616543 | AATT | A | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00733.hp1 others(149): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0008a0001c0009others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0012others(149): Show | 152 | 164 | 0.9268 | -3 | c.280 others(24): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80661502 | TAAG | T | intron_variant | MODIFIER | HG01081.hp1 HG01891.hp2 HG02280.hp1 others(9): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0002g0129others(9): Show | 12 | 164 | 0.0732 | -3 | c.280 others(24): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80679728 | TCTC | T | intron_variant | MODIFIER | HG01081.hp1 HG01891.hp2 HG02280.hp1 others(9): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0002g0129others(9): Show | 12 | 164 | 0.0732 | -3 | c.280 others(24): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80689290 | CAAA | C | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG00733.hp2 others(78): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0008a0001c0012others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0020a0001c0001t0001g0021others(78): Show | 81 | 164 | 0.4939 | -3 | c.280 others(24): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80704784 | CCTT | C | intron_variant | MODIFIER | HG02602.hp2 HG02970.hp2 HG03130.hp2 others(7): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0003a0001c0001t0004a0002c0002t0003others(3): Show | a0001c0001t0003g0149a0001c0001t0004g0137a0002c0002t0003g0141others(7): Show | 10 | 164 | 0.0610 | -3 | c.280 others(24): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80780632 | TATC | T | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG00741.hp2 others(53): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0008a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0016a0001c0001t0001g0019a0001c0001t0001g0020others(53): Show | 56 | 164 | 0.3415 | -3 | c.221 others(22): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 15/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80804108 | GAAT | G | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01081.hp2 others(23): Show |
a0001a0004a0008others(1): Show | a0001c0001a0001c0019a0004c0004others(2): Show | a0001c0001t0002a0001c0001t0006a0001c0019t0002others(3): Show | a0001c0001t0002g0099a0001c0001t0002g0102a0001c0001t0002g0104others(23): Show | 26 | 164 | 0.1585 | -3 | c.121 others(24): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 13/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80804136 | AAAT | A | intron_variant | MODIFIER | HG00642.hp2 HG01175.hp1 HG01433.hp2 others(6): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0002a0003c0003t0006 | a0001c0001t0002g0112a0003c0003t0002g0098a0003c0003t0002g0120others(6): Show | 9 | 164 | 0.0549 | -3 | c.121 others(24): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 13/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80818777 | TATG | T | intron_variant | MODIFIER | HG02615.hp1 NA18522.hp1 |
a0007 | a0007c0010 | a0007c0010t0001a0007c0010t0005 | a0007c0010t0001g0057a0007c0010t0005g0056 | 2 | 164 | 0.0122 | -3 | c.120 others(24): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 13/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80819239 | CTTT | C | intron_variant | MODIFIER | HG00642.hp2 HG01175.hp1 HG01433.hp2 others(6): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0002a0003c0003t0006 | a0001c0001t0002g0112a0003c0003t0002g0098a0003c0003t0002g0120others(6): Show | 9 | 164 | 0.0549 | -3 | c.120 others(24): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 13/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80832530 | GGAT | G | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01081.hp2 others(23): Show |
a0001a0004a0008others(1): Show | a0001c0001a0001c0019a0004c0004others(2): Show | a0001c0001t0002a0001c0001t0006a0001c0019t0002others(3): Show | a0001c0001t0002g0099a0001c0001t0002g0102a0001c0001t0002g0104others(23): Show | 26 | 164 | 0.1585 | -3 | c.105 others(22): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 12/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80856720 | CTTT | C | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01081.hp2 others(17): Show |
a0001a0004a0008others(1): Show | a0001c0001a0001c0019a0004c0004others(2): Show | a0001c0001t0002a0001c0001t0006a0001c0019t0002others(3): Show | a0001c0001t0002g0099a0001c0001t0002g0106a0001c0001t0002g0108others(17): Show | 20 | 164 | 0.1220 | -3 | c.762 others(20): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 9/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80880865 | AAAT | A | intron_variant | MODIFIER | HG01175.hp1 HG01243.hp1 HG02572.hp2 others(7): Show |
a0001a0004a0005others(1): Show | a0001c0001a0004c0004a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0016a0001c0001t0001g0023a0001c0001t0001g0033others(7): Show | 10 | 164 | 0.0610 | -3 | c.645 others(22): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 8/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80912136 | AAAC | A | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp2 HG02572.hp2 others(7): Show |
a0001a0005 | a0001c0001a0001c0008a0005c0005 | a0001c0001t0005a0001c0008t0005a0005c0005t0001others(1): Show | a0001c0001t0005g0051a0001c0001t0005g0052a0001c0001t0005g0053others(7): Show | 10 | 164 | 0.0610 | -3 | c.234 others(20): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 4/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80912771 | AAAT | A | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG00741.hp1 others(65): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0009a0001c0014others(9): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0002g0156a0001c0001t0002g0157a0001c0001t0003g0149others(65): Show | 68 | 164 | 0.4146 | -3 | c.234 others(20): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 4/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80912783 | TAAC | T | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp1 HG02922.hp2 others(9): Show |
a0001a0002a0005 | a0001c0001a0001c0022a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0012a0001c0001t0002g0129a0001c0001t0002g0130others(9): Show | 12 | 164 | 0.0732 | -3 | c.234 others(20): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 4/24 | chr14 | TogoVar | ||||||
CEP131_chr17_81184596_81227965 | 81186654 | GCCC | G | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00558.hp1 others(74): Show |
a0001a0002a0010others(12): Show | a0001c0003a0002c0002a0002c0047others(14): Show | a0001c0003t0002a0002c0002t0001a0002c0002t0002others(16): Show | a0001c0003t0002g0006a0001c0003t0002g0059a0002c0002t0001g0024others(61): Show | 77 | 384 | 0.2005 | -3 | c.*31 others(14): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 2941 | chr17 | TogoVar | ||||||
CEP131_chr17_81184596_81227965 | 81221569 | TCTC | T | intron_variant | MODIFIER | HG01358.hp2 HG02630.hp1 HG02895.hp2 others(21): Show |
a0005a0012a0014others(5): Show | a0005c0006a0012c0016a0014c0024others(8): Show | a0005c0006t0001a0012c0016t0001a0014c0024t0001others(8): Show | a0005c0006t0001g0005a0005c0006t0001g0022a0005c0006t0001g0250others(17): Show | 24 | 384 | 0.0625 | -3 | c.-18 others(20): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 1/25 | chr17 | TogoVar |