| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NFAM1_chr22_42375407_42437403 | 42424911 | G | GTATTTAT others(13): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02896.hp1 HG06807.hp1 others(1): Show |
a0002a0004 | a0002c0004a0004c0007 | a0002c0004t0023a0004c0007t0018 | a0002c0004t0023g0081a0002c0004t0023g0358a0004c0007t0018g0362others(1): Show | 4 | 384 | 0.0104 | 20 | c.121 others(37): Show |
NFAM1 | ENSG00000235568.7 | transcript | ENST00000329021.10 | protein_coding | 1/5 | chr22 | TogoVar | ||||||
| NFASC_chr1_204823652_205027822 | 204846952 | C | CGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0006 | a0002c0006t0003 | a0002c0006t0003g0128 | 1 | 226 | 0.0044 | 20 | c.-20 others(41): Show |
NFASC | ENSG00000163531.17 | transcript | ENST00000339876.11 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NFASC_chr1_204823652_205027822 | 204926380 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0216 | 1 | 226 | 0.0044 | 20 | c.-91 others(37): Show |
NFASC | ENSG00000163531.17 | transcript | ENST00000339876.11 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NFASC_chr1_204823652_205027822 | 205019475 | C | CCATTCAT others(13): Show |
3_prime_UTR_variant | MODIFIER | HG01192.hp1 HG02897.hp1 HG02922.hp1 others(1): Show |
a0001a0004 | a0001c0010a0001c0015a0001c0039others(1): Show | a0001c0010t0024a0001c0015t0049a0001c0039t0032others(1): Show | a0001c0010t0024g0151a0001c0015t0049g0119a0001c0039t0032g0006others(1): Show | 4 | 226 | 0.0177 | 20 | c.*29 others(31): Show |
NFASC | ENSG00000163531.17 | transcript | ENST00000339876.11 | protein_coding | 30/30 | 2963 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
| NFASC_chr1_204865862_205027822 | 204926380 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0031 | 1 | 264 | 0.0038 | 20 | c.-90 others(39): Show |
NFASC | ENSG00000163531.17 | transcript | ENST00000539706.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NFASC_chr1_204865862_205027822 | 205019475 | C | CCATTCAT others(13): Show |
3_prime_UTR_variant | MODIFIER | HG01192.hp1 HG02895.hp2 HG02897.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003a0001c0005others(1): Show | a0001c0002t0017a0001c0003t0035a0001c0005t0052others(1): Show | a0001c0002t0017g0215a0001c0003t0035g0220a0001c0005t0052g0033others(2): Show | 5 | 264 | 0.0189 | 20 | c.*29 others(31): Show |
NFASC | ENSG00000163531.17 | transcript | ENST00000539706.6 | protein_coding | 28/28 | 2963 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
| NFAT5_chr16_69560966_69709654 | 69568346 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0015 | 1 | 380 | 0.0026 | 20 | c.74- others(33): Show |
NFAT5 | ENSG00000102908.23 | transcript | ENST00000349945.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| NFAT5_chr16_69560966_69709654 | 69568346 | A | ATATATGT others(13): Show |
intron_variant | MODIFIER | HG03017.hp2 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0023 | 2 | 380 | 0.0053 | 20 | c.74- others(33): Show |
NFAT5 | ENSG00000102908.23 | transcript | ENST00000349945.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| NFAT5_chr16_69560966_69709654 | 69568346 | A | ATATGTGT others(13): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02109.hp2 HG04184.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0022a0001c0001t0036others(2): Show | a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0048others(5): Show | 8 | 380 | 0.0211 | 20 | c.74- others(33): Show |
NFAT5 | ENSG00000102908.23 | transcript | ENST00000349945.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| NFAT5_chr16_69560966_69709654 | 69568346 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02523.hp2 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146a0001c0001t0001g0147 | 2 | 380 | 0.0053 | 20 | c.74- others(33): Show |
NFAT5 | ENSG00000102908.23 | transcript | ENST00000349945.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| NFATC1_chr18_79390930_79534323 | 79424593 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01243.hp1 HG01952.hp2 others(7): Show |
a0001 | a0001c0004a0001c0010a0001c0028 | a0001c0004t0002a0001c0004t0004a0001c0010t0002others(5): Show | a0001c0004t0002g0093a0001c0004t0004g0078a0001c0010t0002g0080others(7): Show | 10 | 322 | 0.0311 | 20 | c.122 others(39): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| NFATC1_chr18_79390930_79534323 | 79464680 | G | GTACGTAT others(13): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01361.hp1 HG02015.hp1 others(36): Show |
a0001a0002a0006others(1): Show | a0001c0006a0001c0008a0001c0015others(5): Show | a0001c0006t0001a0001c0006t0002a0001c0006t0003others(17): Show | a0001c0006t0001g0244a0001c0006t0002g0076a0001c0006t0002g0097others(36): Show | 39 | 322 | 0.1211 | 20 | c.196 others(39): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| NFATC1_chr18_79390930_79534323 | 79464684 | A | ACGTATAT others(13): Show |
intron_variant | MODIFIER | HG02145.hp1 NA18986.hp1 NA18999.hp1 others(3): Show |
a0001a0002 | a0001c0006a0001c0015a0002c0002others(1): Show | a0001c0006t0001a0001c0015t0021a0002c0002t0002others(3): Show | a0001c0006t0001g0254a0001c0015t0021g0238a0002c0002t0002g0073others(3): Show | 6 | 322 | 0.0186 | 20 | c.196 others(39): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 7/9 | chr18 | TogoVar | ||||||
| NFATC2_chr20_51381963_51547719 | 51455710 | T | TGGTGGGT others(13): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0135 | 1 | 316 | 0.0032 | 20 | c.170 others(39): Show |
NFATC2 | ENSG00000101096.20 | transcript | ENST00000371564.8 | protein_coding | 5/10 | chr20 | TogoVar | ||||||
| NFATC2_chr20_51381963_51547719 | 51540647 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01934.hp1 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0212a0001c0001t0002g0107 | 2 | 316 | 0.0063 | 20 | c.130 others(37): Show |
NFATC2 | ENSG00000101096.20 | transcript | ENST00000371564.8 | protein_coding | 1/10 | chr20 | TogoVar | ||||||
| NFATC3_chr16_68080370_68234259 | 68104653 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG03195.hp2 HG03486.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0013a0001c0001t0008g0014a0001c0001t0008g0015 | 3 | 188 | 0.0160 | 20 | c.104 others(39): Show |
NFATC3 | ENSG00000072736.19 | transcript | ENST00000346183.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| NFIA_chr1_61077561_61467788 | 61106100 | C | CATCTATC others(13): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0007 | 1 | 156 | 0.0064 | 20 | c.559 others(39): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NFIA_chr1_61077561_61467788 | 61126462 | A | ACACACAC others(13): Show |
intron_variant | MODIFIER | HG01258.hp1 HG04115.hp2 NA18969.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0054a0001c0002t0001 | a0001c0001t0054g0021a0001c0002t0001g0014a0001c0002t0001g0023others(1): Show | 4 | 156 | 0.0256 | 20 | c.559 others(39): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NFIA_chr1_61077561_61467788 | 61126462 | A | ACACACAC others(13): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0031a0001c0002t0003g0032 | 2 | 156 | 0.0128 | 20 | c.559 others(39): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NFIA_chr1_61077561_61467788 | 61283581 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0156 | 1 | 156 | 0.0064 | 20 | c.625 others(37): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NFIA_chr1_61077561_61467788 | 61310764 | T | TTTCCTTC others(13): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG02572.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0002a0001c0001t0004a0001c0001t0042others(6): Show | a0001c0001t0002g0124a0001c0001t0004g0044a0001c0001t0042g0115others(6): Show | 9 | 156 | 0.0577 | 20 | c.626 others(39): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NFIA_chr1_61077561_61467788 | 61319790 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03540.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0068a0001c0002t0002g0038 | 2 | 156 | 0.0128 | 20 | c.626 others(39): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NFIA_chr1_61077561_61467788 | 61441292 | G | GGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02717.hp2 HG03098.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0050a0001c0003t0001a0001c0003t0025 | a0001c0001t0050g0072a0001c0003t0001g0097a0001c0003t0025g0142 | 3 | 156 | 0.0192 | 20 | c.151 others(41): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NFIB_chr9_14076848_14319141 | 14143991 | A | AGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG02293.hp1 HG02300.hp1 NA18988.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0116 | a0001c0001t0002g0247a0001c0001t0002g0254a0001c0001t0116g0206 | 3 | 304 | 0.0099 | 20 | c.925 others(37): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 6/10 | chr9 | TogoVar | ||||||
| NFIB_chr9_14076848_14319141 | 14217660 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00423.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0013a0001c0001t0004g0291 | 2 | 304 | 0.0066 | 20 | c.563 others(39): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 2/10 | chr9 | TogoVar | ||||||
| NFIB_chr9_14076848_14319141 | 14231135 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0057 | 1 | 304 | 0.0033 | 20 | c.563 others(39): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 2/10 | chr9 | TogoVar | ||||||
| NFIB_chr9_14076848_14319141 | 14274251 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02083.hp2 NA18906.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013a0001c0001t0023 | a0001c0001t0001g0181a0001c0001t0001g0251a0001c0001t0013g0042others(1): Show | 4 | 304 | 0.0132 | 20 | c.562 others(39): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 2/10 | chr9 | TogoVar | ||||||
| NFIC_chr19_3361583_3474217 | 3363227 | A | ATGTGTGT others(13): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0056 | a0001c0002t0056g0116 | 1 | 300 | 0.0033 | 20 | c.-34 others(31): Show |
NFIC | ENSG00000141905.19 | transcript | ENST00000443272.3 | protein_coding | 3355 | chr19 | TogoVar | ||||||
| NFIC_chr19_3361583_3474217 | 3363228 | T | TGTGTGTG others(13): Show |
upstream_gene_variant | MODIFIER | HG01346.hp1 HG02257.hp2 NA19240.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0133a0002c0003t0199a0002c0003t0223 | a0001c0001t0133g0208a0002c0003t0199g0158a0002c0003t0223g0157 | 3 | 300 | 0.0100 | 20 | c.-34 others(31): Show |
NFIC | ENSG00000141905.19 | transcript | ENST00000443272.3 | protein_coding | 3354 | chr19 | TogoVar | ||||||
| NFIC_chr19_3361583_3474217 | 3363228 | T | TGTGTGTG others(13): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0047 | a0001c0002t0047g0014 | 1 | 300 | 0.0033 | 20 | c.-34 others(31): Show |
NFIC | ENSG00000141905.19 | transcript | ENST00000443272.3 | protein_coding | 3354 | chr19 | TogoVar | ||||||
| NFIC_chr19_3361583_3474217 | 3363241 | G | GTGTGCGT others(13): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 HG03130.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0035a0002c0003t0207 | a0001c0002t0035g0040a0002c0003t0207g0188 | 2 | 300 | 0.0067 | 20 | c.-33 others(31): Show |
NFIC | ENSG00000141905.19 | transcript | ENST00000443272.3 | protein_coding | 3341 | chr19 | TogoVar | ||||||
| NFIC_chr19_3361583_3474217 | 3371998 | C | CCTCCCTC others(13): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02132.hp1 HG02148.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0095a0001c0001t0167a0001c0001t0170others(2): Show | a0001c0001t0095g0206a0001c0001t0167g0276a0001c0001t0170g0135others(2): Show | 5 | 300 | 0.0167 | 20 | c.30+ others(35): Show |
NFIC | ENSG00000141905.19 | transcript | ENST00000443272.3 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NFIC_chr19_3361583_3474217 | 3371998 | C | CCTCTCTC others(13): Show |
intron_variant | MODIFIER | HG01071.hp2 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0081a0001c0001t0102 | a0001c0001t0081g0085a0001c0001t0102g0093 | 2 | 300 | 0.0067 | 20 | c.30+ others(35): Show |
NFIC | ENSG00000141905.19 | transcript | ENST00000443272.3 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NFIC_chr19_3361583_3474217 | 3394513 | T | TCCCCCCC others(13): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0051 | a0001c0002t0051g0110 | 1 | 300 | 0.0033 | 20 | c.562 others(39): Show |
NFIC | ENSG00000141905.19 | transcript | ENST00000443272.3 | protein_coding | 2/10 | chr19 | TogoVar | ||||||
| NFIC_chr19_3361583_3474217 | 3420556 | A | AAAATAAA others(13): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02451.hp1 NA18944.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0124a0001c0001t0130a0001c0001t0156others(1): Show | a0001c0001t0124g0066a0001c0001t0130g0060a0001c0001t0156g0030others(1): Show | 4 | 300 | 0.0133 | 20 | c.563 others(37): Show |
NFIC | ENSG00000141905.19 | transcript | ENST00000443272.3 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NFIC_chr19_3361583_3474217 | 3467758 | C | CATATATA others(13): Show |
3_prime_UTR_variant | MODIFIER | HG00642.hp2 HG01891.hp2 HG02015.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0003a0001c0001t0030a0001c0001t0143others(17): Show | a0001c0001t0003g0041a0001c0001t0003g0114a0001c0001t0003g0130others(21): Show | 24 | 300 | 0.0800 | 20 | c.*50 others(31): Show |
NFIC | ENSG00000141905.19 | transcript | ENST00000443272.3 | protein_coding | 11/11 | 5021 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
| NFILZ_chr19_8625633_8686151 | 8633877 | C | CCCTTCCT others(13): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0201 | 1 | 366 | 0.0027 | 20 | c.-26 others(39): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NFILZ_chr19_8625633_8686151 | 8653003 | C | CCTTTCTT others(13): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0159 | a0001c0001t0159g0337 | 1 | 366 | 0.0027 | 20 | c.-16 others(41): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NFILZ_chr19_8625633_8686151 | 8653011 | C | CCTTTCCT others(13): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0120 | 1 | 366 | 0.0027 | 20 | c.-16 others(41): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NFILZ_chr19_8625633_8686151 | 8653038 | T | TTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0002 | a0002c0002 | a0002c0002t0102 | a0002c0002t0102g0014 | 1 | 366 | 0.0027 | 20 | c.-16 others(41): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NFILZ_chr19_8625633_8686151 | 8653038 | T | TTCTTTCT others(13): Show |
intron_variant | MODIFIER | HG01071.hp2 HG03942.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0002 | a0001c0001t0004g0021a0002c0002t0002g0194 | 2 | 366 | 0.0055 | 20 | c.-16 others(41): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NFILZ_chr19_8625633_8686151 | 8653038 | T | TTCTTTCT others(13): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02004.hp2 NA18962.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0002 | a0001c0001t0001g0018a0001c0001t0003g0065a0002c0002t0002g0062 | 3 | 366 | 0.0082 | 20 | c.-16 others(41): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NFILZ_chr19_8625633_8686151 | 8661045 | T | TCCCCCTC others(13): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0002 | a0002c0002 | a0002c0002t0099 | a0002c0002t0099g0083 | 1 | 366 | 0.0027 | 20 | c.-16 others(41): 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(13): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0155 | a0001c0001t0155g0022 | 1 | 366 | 0.0027 | 20 | c.-16 others(41): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NFILZ_chr19_8625633_8686151 | 8663740 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01099.hp2 |
a0003 | a0003c0003 | a0003c0003t0011 | a0003c0003t0011g0070a0003c0003t0011g0072 | 2 | 366 | 0.0055 | 20 | c.-16 others(41): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NFILZ_chr19_8625633_8686151 | 8668285 | A | ACTGTTGT others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(120): Show |
a0001a0009a0015 | a0001c0001a0009c0008a0015c0015 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(35): Show | a0001c0001t0001g0018a0001c0001t0001g0035a0001c0001t0001g0036others(120): Show | 123 | 366 | 0.3361 | 20 | c.-16 others(39): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | chr19 | TogoVar | ||||||
| NFIX_chr19_12990475_13103796 | 13023070 | T | TTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG02451.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0216a0001c0001t0009g0007 | 2 | 252 | 0.0079 | 20 | c.28- others(35): Show |
NFIX | ENSG00000008441.19 | transcript | ENST00000592199.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NFKB1_chr4_102496359_102622302 | 102539236 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 328 | 0.0031 | 20 | c.258 others(37): Show |
NFKB1 | ENSG00000109320.14 | transcript | ENST00000226574.9 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| NFKB1_chr4_102496359_102622302 | 102609158 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00735.hp2 HG01361.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0303a0001c0001t0002g0203a0001c0001t0002g0240others(13): Show | 16 | 328 | 0.0488 | 20 | c.222 others(39): Show |
NFKB1 | ENSG00000109320.14 | transcript | ENST00000226574.9 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| NFKB2_chr10_102390705_102407524 | 102398784 | T | TCTCCCAG others(13): Show |
frameshift_variant | HIGH | NA19078.hp2 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0012 | 1 | 424 | 0.0024 | 20 | c.103 others(29): Show |
p.Gly others(5): Show |
NFKB2 | ENSG00000077150.21 | transcript | ENST00000661543.1 | protein_coding | 12/23 | 1222/3015 | 1058/2703 | 353/900 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |