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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NDUFS5_chr1_39021350_39039615 | 39024932 | A | ATATATAT others(29): Show |
upstream_gene_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 438 | 0.0023 | 36 | c.-14 others(47): Show |
NDUFS5 | ENSG00000168653.11 | transcript | ENST00000372969.8 | protein_coding | 1417 | chr1 | TogoVar | ||||||
NECAB1_chr8_90786775_90964393 | 90917870 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | NA19010.hp2 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0075a0001c0001t0011g0057 | 2 | 248 | 0.0081 | 36 | c.494 others(51): Show |
NECAB1 | ENSG00000123119.12 | transcript | ENST00000417640.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
NECAB2_chr16_83963244_84007776 | 83974894 | G | GCAGGTGT others(29): Show |
intron_variant | MODIFIER | HG03540.hp1 NA20129.hp2 |
a0003a0004 | a0003c0004a0004c0005 | a0003c0004t0040a0004c0005t0016 | a0003c0004t0040g0018a0004c0005t0016g0009 | 2 | 354 | 0.0057 | 36 | c.226 others(53): Show |
NECAB2 | ENSG00000103154.10 | transcript | ENST00000305202.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NECAB2_chr16_83963244_84007776 | 83974920 | G | GGGGATGG others(29): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0003 | a0002c0003t0010 | a0002c0003t0010g0221 | 1 | 354 | 0.0028 | 36 | c.226 others(53): Show |
NECAB2 | ENSG00000103154.10 | transcript | ENST00000305202.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NECAB2_chr16_83963244_84007776 | 83974930 | A | ACAGGTGT others(29): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01884.hp2 HG02055.hp1 others(33): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0003others(6): Show | a0001c0001t0016a0001c0006t0005a0002c0003t0003others(13): Show | a0001c0001t0016g0258a0001c0006t0005g0256a0002c0003t0003g0229others(33): Show | 36 | 354 | 0.1017 | 36 | c.226 others(53): Show |
NECAB2 | ENSG00000103154.10 | transcript | ENST00000305202.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NECAB2_chr16_83963244_84007776 | 83975168 | A | AGGGATGG others(29): Show |
intron_variant | MODIFIER | HG03669.hp1 HG03688.hp1 HG03710.hp1 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0002c0002t0011a0002c0003t0008others(1): Show | a0001c0001t0001g0164a0001c0001t0001g0174a0002c0002t0011g0163others(3): Show | 6 | 354 | 0.0170 | 36 | c.226 others(53): Show |
NECAB2 | ENSG00000103154.10 | transcript | ENST00000305202.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NEDD1_chr12_96902257_96958780 | 96932463 | A | AAAAAAAA others(29): Show |
intron_variant | MODIFIER | HG02056.hp1 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217a0001c0001t0001g0276 | 2 | 400 | 0.0050 | 36 | c.490 others(53): Show |
NEDD1 | ENSG00000139350.12 | transcript | ENST00000266742.9 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NEDD1_chr12_96902257_96958780 | 96932463 | A | AAAAAAAA others(29): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01099.hp2 HG02135.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0246a0001c0001t0001g0265a0001c0001t0001g0287others(2): Show | 5 | 400 | 0.0125 | 36 | c.490 others(53): Show |
NEDD1 | ENSG00000139350.12 | transcript | ENST00000266742.9 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NEDD1_chr12_96902257_96958780 | 96932463 | A | AAAAAAAA others(29): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00642.hp2 HG04115.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0340a0001c0001t0003g0210a0001c0001t0003g0213others(2): Show | 5 | 400 | 0.0125 | 36 | c.490 others(53): Show |
NEDD1 | ENSG00000139350.12 | transcript | ENST00000266742.9 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NEDD1_chr12_96902257_96958780 | 96932463 | A | AAAAAAAA others(29): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02071.hp2 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0260a0001c0001t0001g0337a0001c0001t0003g0206 | 3 | 400 | 0.0075 | 36 | c.490 others(53): Show |
NEDD1 | ENSG00000139350.12 | transcript | ENST00000266742.9 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NEDD4L_chr18_58039226_58406539 | 58138324 | T | TTCTTCCC others(29): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00738.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0034a0001c0001t0001g0056a0001c0001t0001g0084others(24): Show | 27 | 118 | 0.2288 | 36 | c.49- others(53): Show |
NEDD4L | ENSG00000049759.20 | transcript | ENST00000400345.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
NEDD4_chr15_55821922_55998612 | 55940518 | T | TTCTCTCT others(29): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02109.hp1 HG02135.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003a0002c0002t0007 | a0002c0002t0002g0054a0002c0002t0003g0003a0002c0002t0003g0050others(3): Show | 6 | 344 | 0.0174 | 36 | c.237 others(55): Show |
NEDD4 | ENSG00000069869.17 | transcript | ENST00000435532.8 | protein_coding | 4/28 | chr15 | TogoVar | ||||||
NEGR1_chr1_71390943_72287539 | 71675126 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0006 | a0001c0006t0009 | a0001c0006t0009g0023 | 1 | 64 | 0.0156 | 36 | c.667 others(55): Show |
NEGR1 | ENSG00000172260.15 | transcript | ENST00000357731.10 | protein_coding | 4/6 | chr1 | TogoVar | ||||||
NEGR1_chr1_71390943_72287539 | 71675126 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01884.hp1 HG01934.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0007a0001c0002t0014others(1): Show | a0001c0001t0002g0035a0001c0001t0007g0018a0001c0002t0014g0057others(1): Show | 4 | 64 | 0.0625 | 36 | c.667 others(55): Show |
NEGR1 | ENSG00000172260.15 | transcript | ENST00000357731.10 | protein_coding | 4/6 | chr1 | TogoVar | ||||||
NEGR1_chr1_71390943_72287539 | 71675126 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 64 | 0.0156 | 36 | c.667 others(55): Show |
NEGR1 | ENSG00000172260.15 | transcript | ENST00000357731.10 | protein_coding | 4/6 | chr1 | TogoVar | ||||||
NEGR1_chr1_71390943_72287539 | 71753964 | C | CCAGTCAG others(29): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0056 | 1 | 64 | 0.0156 | 36 | c.535 others(55): Show |
NEGR1 | ENSG00000172260.15 | transcript | ENST00000357731.10 | protein_coding | 3/6 | chr1 | TogoVar | ||||||
NEK11_chr3_131021877_131355465 | 131115902 | T | TTTTCTTT others(29): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0258 | 1 | 292 | 0.0034 | 36 | c.455 others(53): Show |
NEK11 | ENSG00000114670.14 | transcript | ENST00000383366.9 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NELL1_chr11_20664586_21580686 | 21489380 | C | CAAAAAAA others(29): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0004 | a0004c0013 | a0004c0013t0001 | a0004c0013t0001g0005 | 1 | 88 | 0.0114 | 36 | c.164 others(57): Show |
NELL1 | ENSG00000165973.19 | transcript | ENST00000357134.10 | protein_coding | 15/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NELL2_chr12_44503278_44881315 | 44521529 | C | CAAAAAAA others(29): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 158 | 0.0063 | 36 | c.217 others(53): Show |
NELL2 | ENSG00000184613.11 | transcript | ENST00000429094.7 | protein_coding | 18/19 | chr12 | TogoVar | ||||||
NELL2_chr12_44503278_44881315 | 44587284 | A | AAAAAAAA others(29): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 158 | 0.0063 | 36 | c.166 others(57): Show |
NELL2 | ENSG00000184613.11 | transcript | ENST00000429094.7 | protein_coding | 15/19 | chr12 | TogoVar | ||||||
NELL2_chr12_44503278_44881315 | 44842109 | G | GAGGGAGG others(29): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 | 1 | 158 | 0.0063 | 36 | c.185 others(55): Show |
NELL2 | ENSG00000184613.11 | transcript | ENST00000429094.7 | protein_coding | 2/19 | chr12 | TogoVar | ||||||
NELL2_chr12_44503278_44881315 | 44842109 | G | GAGGGAGG others(29): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0158 | 1 | 158 | 0.0063 | 36 | c.185 others(55): Show |
NELL2 | ENSG00000184613.11 | transcript | ENST00000429094.7 | protein_coding | 2/19 | chr12 | TogoVar | ||||||
NEO1_chr15_73047463_73310205 | 73295125 | A | AATATATA others(29): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0147 | 1 | 324 | 0.0031 | 36 | c.390 others(55): Show |
NEO1 | ENSG00000067141.17 | transcript | ENST00000261908.11 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
NEU4_chr2_241804193_241822413 | 241807494 | C | CCCCCTCA others(29): Show |
upstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0025 | 1 | 319 | 0.0031 | 36 | c.-17 others(47): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1698 | chr2 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241812593 | G | GGAACTGG others(29): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0037a0001c0005t0001g0115 | 3 | 319 | 0.0094 | 36 | c.-3- others(51): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1/3 | chr2 | TogoVar | ||||||
NEURL1B_chr5_172636263_172696540 | 172667275 | T | TAAAAAAA others(29): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 392 | 0.0026 | 36 | c.32- others(51): Show |
NEURL1B | ENSG00000214357.9 | transcript | ENST00000369800.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
NEUROD6_chr7_31332465_31345726 | 31334252 | T | TGCTTTCT others(29): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 414 | 0.0024 | 36 | c.*40 others(47): Show |
NEUROD6 | ENSG00000164600.7 | transcript | ENST00000297142.4 | protein_coding | 3212 | chr7 | TogoVar | ||||||
NEXN_chr1_77883624_77948895 | 77887920 | T | TCTTCTCC others(29): Show |
upstream_gene_variant | MODIFIER | HG02056.hp2 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043a0001c0001t0001g0052 | 2 | 268 | 0.0075 | 36 | c.-89 others(45): Show |
NEXN | ENSG00000162614.19 | transcript | ENST00000334785.12 | protein_coding | 703 | chr1 | TogoVar | ||||||
NEXN_chr1_77883624_77948895 | 77887926 | T | TCTTCTCC others(29): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG02717.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0045a0001c0001t0001g0133 | 3 | 268 | 0.0112 | 36 | c.-88 others(45): Show |
NEXN | ENSG00000162614.19 | transcript | ENST00000334785.12 | protein_coding | 697 | chr1 | TogoVar | ||||||
NF1_chr17_31089977_31382675 | 31355793 | T | TTGGGGGA others(29): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 252 | 0.0040 | 36 | c.761 others(53): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 51/57 | chr17 | TogoVar | ||||||
NFAT5_chr16_69560966_69709654 | 69688202 | C | CAAAAAAA others(29): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0365 | 1 | 380 | 0.0026 | 36 | c.177 others(55): Show |
NFAT5 | ENSG00000102908.23 | transcript | ENST00000349945.7 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NFATC1_chr18_79390930_79534323 | 79464670 | G | GTGTGTGT others(29): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01517.hp2 HG02486.hp2 others(1): Show |
a0001a0003 | a0001c0027a0003c0007 | a0001c0027t0008a0003c0007t0008 | a0001c0027t0008g0030a0003c0007t0008g0020a0003c0007t0008g0029others(1): Show | 4 | 322 | 0.0124 | 36 | c.196 others(55): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
NFATC1_chr18_79390930_79534323 | 79532046 | C | CCCCGCCT others(29): Show |
downstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0042 | 1 | 322 | 0.0031 | 36 | c.*44 others(47): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 2724 | chr18 | TogoVar | ||||||
NFE2L3_chr7_26147198_26192137 | 26176964 | T | TGGCCGGG others(29): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01109.hp1 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003a0001c0002t0006others(1): Show | a0001c0002t0001g0009a0001c0002t0001g0049a0001c0002t0001g0050others(10): Show | 18 | 400 | 0.0450 | 36 | c.571 others(51): Show |
NFE2L3 | ENSG00000050344.9 | transcript | ENST00000056233.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
NFE2L3_chr7_26147198_26192137 | 26176967 | C | CCAGGCAG others(29): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 400 | 0.0025 | 36 | c.571 others(51): Show |
NFE2L3 | ENSG00000050344.9 | transcript | ENST00000056233.4 | protein_coding | 1/3 | chr7 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61310764 | T | TTTCCTTC others(29): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02451.hp1 HG02622.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0046a0001c0001t0003g0008a0001c0001t0004g0133others(6): Show | 9 | 156 | 0.0577 | 36 | c.626 others(55): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NFIA_chr1_61077561_61467788 | 61466738 | C | CACACACA others(29): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 156 | 0.0064 | 36 | c.*11 others(49): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 3951 | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61466755 | A | ATATATAT others(29): Show |
downstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0036 | 1 | 156 | 0.0064 | 36 | c.*11 others(49): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 3968 | chr1 | TogoVar | ||||||
NFIC_chr19_3361583_3474217 | 3371998 | C | CCTCCCTC others(29): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0174 | a0001c0001t0174g0136 | 1 | 300 | 0.0033 | 36 | c.30+ others(51): Show |
NFIC | ENSG00000141905.19 | transcript | ENST00000443272.3 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFILZ_chr19_8625633_8686151 | 8656289 | C | CAGCCCAC others(29): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00609.hp1 others(64): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(38): Show | a0001c0001t0001g0154a0001c0001t0001g0157a0001c0001t0001g0183others(64): Show | 67 | 366 | 0.1831 | 36 | c.-16 others(57): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFILZ_chr19_8625633_8686151 | 8656304 | C | CACAGCCC others(29): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0002 | a0002c0002 | a0002c0002t0037 | a0002c0002t0037g0084 | 1 | 366 | 0.0027 | 36 | c.-16 others(57): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | chr19 | TogoVar | ||||||
NFILZ_chr19_8625633_8686151 | 8656355 | C | CCTGAAGC others(29): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02074.hp1 HG02559.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(2): Show | a0001c0001t0001g0272a0001c0001t0001g0355a0001c0001t0004g0104others(3): Show | 6 | 366 | 0.0164 | 36 | c.-16 others(57): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFILZ_chr19_8625633_8686151 | 8663728 | G | GTGTGTGT others(29): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02280.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0038a0002c0002t0089 | a0001c0001t0038g0333a0002c0002t0089g0300 | 2 | 366 | 0.0055 | 36 | c.-16 others(57): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFILZ_chr19_8625633_8686151 | 8663748 | G | GTGTGTAT others(29): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG01515.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0012a0001c0001t0020a0001c0001t0021others(8): Show | a0001c0001t0012g0073a0001c0001t0020g0074a0001c0001t0021g0069others(8): Show | 11 | 366 | 0.0301 | 36 | c.-16 others(57): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFILZ_chr19_8625633_8686151 | 8678147 | G | GTCCATCC others(29): Show |
3_prime_UTR_variant | MODIFIER | NA18956.hp2 | a0003 | a0003c0003 | a0003c0003t0076 | a0003c0003t0076g0356 | 1 | 366 | 0.0027 | 36 | c.*51 others(45): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 6/6 | 516 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
NGB_chr14_77260483_77276206 | 77269732 | T | TCTCTCTC others(29): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 366 | 0.0027 | 36 | c.90- others(49): Show |
NGB | ENSG00000165553.5 | transcript | ENST00000298352.5 | protein_coding | 1/3 | chr14 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232995572 | A | ATATAGTA others(29): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0005 | a0001c0005t0018 | a0001c0005t0018g0007 | 1 | 362 | 0.0028 | 36 | c.-75 others(55): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232995574 | A | ACATACAG others(29): Show |
intron_variant | MODIFIER | HG02922.hp2 NA20129.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0025a0001c0002t0021 | a0001c0001t0025g0008a0001c0002t0021g0009 | 2 | 362 | 0.0055 | 36 | c.-75 others(55): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232995578 | A | ACAGTATG others(29): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01099.hp1 HG01192.hp2 others(7): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0012a0001c0003t0005a0001c0004t0004others(4): Show | a0001c0002t0012g0056a0001c0003t0005g0136a0001c0004t0004g0331others(7): Show | 10 | 362 | 0.0276 | 36 | c.-75 others(55): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
NHEJ1_chr2_219064357_219165815 | 219159528 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | HG02602.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023a0001c0001t0002g0041 | 2 | 350 | 0.0057 | 36 | c.1-1 others(49): Show |
NHEJ1 | ENSG00000187736.14 | transcript | ENST00000356853.10 | protein_coding | 1/7 | chr2 | TogoVar |