view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NF1_chr17_31089977_31382675 | 31193669 | AAAAACAA others(8): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02615.hp2 |
a0001 | a0001c0011 | a0001c0011t0003 | a0001c0011t0003g0003 a0001c0011t0003g0004 |
2 | 252 | 0.0079 | -15 | c.889 others(32): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 8/57 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NF1_chr17_31089977_31382675 | 31206667 | CTTTTGAA others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(85): Show |
a0001a0003a0004 | a0001c0002a0001c0004a0001c0015others(3): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0014others(9): Show | a0001c0002t0002g0153 a0001c0002t0002g0155 a0001c0002t0002g0156 others(85): Show |
88 | 252 | 0.3492 | -15 | c.139 others(32): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 12/57 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NF1_chr17_31089977_31382675 | 31261400 | GTTCCTTA others(8): Show |
G | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0198 | 1 | 252 | 0.0040 | -15 | c.457 others(32): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 34/57 | chr17 | TogoVar | |||||||
NF1_chr17_31089977_31382675 | 31322501 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 252 | 0.0040 | -15 | c.483 others(34): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 36/57 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NF1_chr17_31089977_31382675 | 31331904 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 252 | 0.0040 | -15 | c.581 others(34): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 39/57 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NF2_chr22_29598633_29703598 | 29602968 | TAATAATA others(8): Show |
T | upstream_gene_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0204 | 1 | 344 | 0.0029 | -15 | c.-10 others(26): Show |
NF2 | ENSG00000186575.19 | transcript | ENST00000338641.10 | protein_coding | 664 | chr22 | TogoVar | |||||||
NF2_chr22_29598633_29703598 | 29623959 | ATATTTCC others(8): Show |
A | intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0302 | 1 | 344 | 0.0029 | -15 | c.115 others(34): Show |
NF2 | ENSG00000186575.19 | transcript | ENST00000338641.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
NF2_chr22_29598633_29703598 | 29624796 | GTCCTCTT others(8): Show |
G | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0246 | 1 | 344 | 0.0029 | -15 | c.115 others(34): Show |
NF2 | ENSG00000186575.19 | transcript | ENST00000338641.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
NF2_chr22_29598633_29703598 | 29624857 | CTTTCTTT others(8): Show |
C | intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0173 | 1 | 344 | 0.0029 | -15 | c.115 others(34): Show |
NF2 | ENSG00000186575.19 | transcript | ENST00000338641.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
NFAM1_chr22_42375407_42437403 | 42378251 | CAAAAAAA others(8): Show |
C | downstream_gene_variant | MODIFIER | HG01978.hp2 HG03492.hp2 NA18974.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0304 a0001c0001t0002g0313 a0001c0001t0002g0318 others(1): Show |
4 | 384 | 0.0104 | -15 | c.*68 others(26): Show |
NFAM1 | ENSG00000235568.7 | transcript | ENST00000329021.10 | protein_coding | 2155 | chr22 | TogoVar | |||||||
NFAM1_chr22_42375407_42437403 | 42396921 | AGGGGGCG others(8): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02976.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0024 a0001c0001t0017g0025 a0001c0001t0017g0027 others(1): Show |
4 | 384 | 0.0104 | -15 | c.663 others(30): Show |
NFAM1 | ENSG00000235568.7 | transcript | ENST00000329021.10 | protein_coding | 4/5 | chr22 | TogoVar | |||||||
NFAM1_chr22_42375407_42437403 | 42398382 | TTTATTAT others(8): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00597.hp2 others(57): Show |
a0001a0007 | a0001c0001a0001c0015a0007c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(7): Show | a0001c0001t0001g0224 a0001c0001t0003g0003 a0001c0001t0003g0006 others(55): Show |
60 | 384 | 0.1563 | -15 | c.565 others(30): Show |
NFAM1 | ENSG00000235568.7 | transcript | ENST00000329021.10 | protein_coding | 3/5 | chr22 | TogoVar | |||||||
NFAM1_chr22_42375407_42437403 | 42415294 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0352 | 1 | 384 | 0.0026 | -15 | c.122 others(32): Show |
NFAM1 | ENSG00000235568.7 | transcript | ENST00000329021.10 | protein_coding | 1/5 | chr22 | TogoVar | |||||||
NFASC_chr1_204823652_205027822 | 204832143 | GAACACCT others(8): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp1 others(125): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0004others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(74): Show | a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0039 others(125): Show |
128 | 226 | 0.5664 | -15 | c.-20 others(34): Show |
NFASC | ENSG00000163531.17 | transcript | ENST00000339876.11 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFASC_chr1_204865862_205027822 | 204875073 | TTTGTTGT others(8): Show |
T | intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0127 | 1 | 264 | 0.0038 | -15 | c.-91 others(32): Show |
NFASC | ENSG00000163531.17 | transcript | ENST00000539706.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFASC_chr1_204865862_205027822 | 204887586 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | NA19075.hp1 | a0009 | a0009c0018 | a0009c0018t0001 | a0009c0018t0001g0188 | 1 | 264 | 0.0038 | -15 | c.-91 others(34): Show |
NFASC | ENSG00000163531.17 | transcript | ENST00000539706.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFAT5_chr16_69560966_69709654 | 69561005 | TAAAAAAA others(8): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(146): Show |
a0001a0003 | a0001c0001a0001c0006a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 others(146): Show |
149 | 380 | 0.3921 | -15 | c.-52 others(26): Show |
NFAT5 | ENSG00000102908.23 | transcript | ENST00000349945.7 | protein_coding | 4960 | chr16 | TogoVar | |||||||
NFATC1_chr18_79390930_79534323 | 79395565 | GCGCCCCT others(8): Show |
G | upstream_gene_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 322 | 0.0031 | -15 | c.-65 others(24): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 364 | chr18 | TogoVar | |||||||
NFATC1_chr18_79390930_79534323 | 79395567 | GCCCCTCC others(8): Show |
G | upstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0060 | 1 | 322 | 0.0031 | -15 | c.-65 others(24): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 362 | chr18 | TogoVar | |||||||
NFATC1_chr18_79390930_79534323 | 79395582 | CCCCCCTC others(8): Show |
C | upstream_gene_variant | MODIFIER | HG02572.hp2 HG02602.hp1 HG02738.hp2 others(2): Show |
a0001a0002 | a0001c0004a0001c0006a0001c0008others(2): Show | a0001c0004t0002a0001c0006t0048a0001c0008t0002others(2): Show | a0001c0004t0002g0012 a0001c0006t0048g0049 a0001c0008t0002g0077 others(2): Show |
5 | 322 | 0.0155 | -15 | c.-64 others(24): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 347 | chr18 | TogoVar | |||||||
NFATC1_chr18_79390930_79534323 | 79395615 | CCCCCCTC others(8): Show |
C | upstream_gene_variant | MODIFIER | HG01361.hp2 HG02293.hp1 HG02451.hp1 others(2): Show |
a0001a0002 | a0001c0006a0001c0013a0001c0021others(1): Show | a0001c0006t0002a0001c0013t0005a0001c0013t0007others(2): Show | a0001c0006t0002g0097 a0001c0013t0005g0114 a0001c0013t0007g0112 others(2): Show |
5 | 322 | 0.0155 | -15 | c.-60 others(24): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 314 | chr18 | TogoVar | |||||||
NFATC1_chr18_79390930_79534323 | 79408821 | TCATCATC others(8): Show |
T | intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0009 | a0001c0009t0006 | a0001c0009t0006g0108 | 1 | 322 | 0.0031 | -15 | c.128 others(32): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NFATC1_chr18_79390930_79534323 | 79510813 | CTCCTCTG others(8): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(206): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(40): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(107): Show | a0001c0001t0001g0006 a0001c0001t0001g0237 a0001c0001t0001g0257 others(204): Show |
209 | 322 | 0.6491 | -15 | c.278 others(36): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NFATC2_chr20_51381963_51547719 | 51393958 | TGGATGGA others(8): Show |
T | intron_variant | MODIFIER | HG03516.hp2 | a0004 | a0004c0010 | a0004c0010t0022 | a0004c0010t0022g0306 | 1 | 316 | 0.0032 | -15 | c.*45 others(32): Show |
NFATC2 | ENSG00000101096.20 | transcript | ENST00000371564.8 | protein_coding | 10/10 | chr20 | TogoVar | |||||||
NFATC3_chr16_68080370_68234259 | 68222289 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG02886.hp2 HG02976.hp1 |
a0002 | a0002c0002 | a0002c0002t0014a0002c0002t0036 | a0002c0002t0014g0177 a0002c0002t0014g0180 a0002c0002t0036g0179 |
3 | 188 | 0.0160 | -15 | c.310 others(34): Show |
NFATC3 | ENSG00000072736.19 | transcript | ENST00000346183.8 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NFE2L3_chr7_26147198_26192137 | 26161350 | TTTTTTTT others(8): Show |
T | intron_variant | MODIFIER | HG03041.hp2 NA18979.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0078 a0001c0002t0002g0239 |
2 | 400 | 0.0050 | -15 | c.570 others(32): Show |
NFE2L3 | ENSG00000050344.9 | transcript | ENST00000056233.4 | protein_coding | 1/3 | chr7 | TogoVar | |||||||
NFE2_chr12_54287111_54306015 | 54290925 | AGTGTTGG others(8): Show |
A | downstream_gene_variant | MODIFIER | HG01515.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 346 | 0.0058 | -15 | c.*14 others(26): Show |
NFE2 | ENSG00000123405.14 | transcript | ENST00000435572.7 | protein_coding | 1185 | chr12 | TogoVar | |||||||
NFIA_chr1_61077561_61467788 | 61205901 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00735.hp2 others(42): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0054 others(42): Show |
45 | 156 | 0.2885 | -15 | c.560 others(34): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61264653 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG03831.hp1 NA18954.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0055 a0001c0001t0002g0062 a0001c0001t0006g0092 others(8): Show |
11 | 156 | 0.0705 | -15 | c.560 others(34): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61394485 | TATTTAAA others(8): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG03098.hp1 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0025 | a0001c0003t0001g0097 a0001c0003t0025g0142 |
2 | 156 | 0.0128 | -15 | c.107 others(34): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIB_chr9_14076848_14319141 | 14080447 | CTTTTTTT others(8): Show |
C | downstream_gene_variant | MODIFIER | HG02717.hp2 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0029a0001c0001t0107 | a0001c0001t0029g0069 a0001c0001t0107g0142 |
2 | 304 | 0.0066 | -15 | c.*78 others(26): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 1400 | chr9 | TogoVar | |||||||
NFIB_chr9_14076848_14319141 | 14168593 | TTGGAACC others(8): Show |
T | intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0074 | a0001c0001t0074g0255 | 1 | 304 | 0.0033 | -15 | c.616 others(34): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 3/10 | chr9 | TogoVar | |||||||
NFIB_chr9_14076848_14319141 | 14231132 | AAAAATAT others(8): Show |
A | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0160 | 1 | 304 | 0.0033 | -15 | c.563 others(34): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
NFIC_chr19_3361583_3474217 | 3378571 | CTGTCCCC others(8): Show |
C | intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 300 | 0.0033 | -15 | c.31- others(30): Show |
NFIC | ENSG00000141905.19 | transcript | ENST00000443272.3 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
NFIC_chr19_3361583_3474217 | 3414592 | CTAAAATA others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(150): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(122): Show | a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0027 others(150): Show |
153 | 300 | 0.5100 | -15 | c.563 others(34): Show |
NFIC | ENSG00000141905.19 | transcript | ENST00000443272.3 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NFIC_chr19_3361583_3474217 | 3414813 | TTTTTTTG others(8): Show |
T | intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 300 | 0.0033 | -15 | c.563 others(34): Show |
NFIC | ENSG00000141905.19 | transcript | ENST00000443272.3 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NFIC_chr19_3361583_3474217 | 3439333 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02559.hp2 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0075a0001c0001t0109a0001c0001t0113others(1): Show | a0001c0001t0075g0052 a0001c0001t0109g0071 a0001c0001t0113g0034 others(1): Show |
4 | 300 | 0.0133 | -15 | c.958 others(32): Show |
NFIC | ENSG00000141905.19 | transcript | ENST00000443272.3 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NFILZ_chr19_8625633_8686151 | 8685078 | TTTTTTTT others(8): Show |
T | downstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 366 | 0.0027 | -15 | c.*74 others(26): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3928 | chr19 | TogoVar | |||||||
NFIX_chr19_12990475_13103796 | 13057477 | TCGGCTTT others(8): Show |
T | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0126 | 1 | 252 | 0.0040 | -15 | c.560 others(34): Show |
NFIX | ENSG00000008441.19 | transcript | ENST00000592199.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NFKB1_chr4_102496359_102622302 | 102596477 | ATATGTCA others(8): Show |
A | intron_variant | MODIFIER | HG02280.hp1 NA20300.hp2 |
a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0317 a0003c0005t0004g0318 |
2 | 328 | 0.0061 | -15 | c.149 others(32): Show |
NFKB1 | ENSG00000109320.14 | transcript | ENST00000226574.9 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NFU1_chr2_69391126_69442435 | 69407688 | AAAAGAAA others(8): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02074.hp1 HG02451.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0106 a0001c0001t0001g0107 others(18): Show |
21 | 368 | 0.0571 | -15 | c.485 others(32): Show |
NFU1 | ENSG00000169599.13 | transcript | ENST00000410022.7 | protein_coding | 5/7 | chr2 | TogoVar | |||||||
NFXL1_chr4_47842240_47919583 | 47859856 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | NA18987.hp1 NA19081.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0051 a0001c0002t0001g0067 |
2 | 378 | 0.0053 | -15 | c.231 others(34): Show |
NFXL1 | ENSG00000170448.12 | transcript | ENST00000507489.2 | protein_coding | 19/22 | chr4 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232906526 | GGTCAGCC others(8): Show |
G | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0025 | 1 | 362 | 0.0028 | -15 | c.829 others(34): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 5/14 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232907174 | GAAAAGAA others(8): Show |
G | intron_variant | MODIFIER | HG03486.hp1 NA18906.hp2 |
a0001a0002 | a0001c0005a0002c0006 | a0001c0005t0001a0002c0006t0030 | a0001c0005t0001g0117 a0002c0006t0030g0341 |
2 | 362 | 0.0055 | -15 | c.829 others(34): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 5/14 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232952970 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0218 | 1 | 362 | 0.0028 | -15 | c.383 others(34): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 3/14 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232969457 | CCTTCCTT others(8): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01070.hp2 HG01071.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0006a0001c0002t0003a0001c0002t0012others(10): Show | a0001c0001t0006g0177 a0001c0002t0003g0305 a0001c0002t0012g0056 others(19): Show |
22 | 362 | 0.0608 | -15 | c.383 others(30): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 3/14 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995394 | TACTGTAT others(8): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02083.hp2 HG02132.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0009a0001c0002t0011others(3): Show | a0001c0001t0002g0150 a0001c0001t0009g0040 a0001c0002t0011g0133 others(13): Show |
16 | 362 | 0.0442 | -15 | c.-75 others(34): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995451 | TATACTGA others(8): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG02145.hp2 HG02280.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(15): Show | a0001c0001t0001g0121 a0001c0001t0001g0337 a0001c0001t0001g0339 others(25): Show |
28 | 362 | 0.0774 | -15 | c.-75 others(34): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NGF_chr1_115280917_115343249 | 115290386 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02723.hp2 HG02809.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0017 a0001c0001t0001g0097 a0001c0001t0001g0220 others(3): Show |
6 | 418 | 0.0144 | -15 | c.-13 others(32): Show |
NGF | ENSG00000134259.6 | transcript | ENST00000369512.3 | protein_coding | 2/2 | chr1 | TogoVar | |||||||
NGF_chr1_115280917_115343249 | 115333678 | TTTCTTTC others(8): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02895.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 others(9): Show |
12 | 418 | 0.0287 | -15 | c.-13 others(34): Show |
NGF | ENSG00000134259.6 | transcript | ENST00000369512.3 | protein_coding | 1/2 | chr1 | TogoVar |