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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FAT3_chr11_92219818_92901473 | 92442111 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0004 | a0004c0048 | a0004c0048t0047 | a0004c0048t0047g0055 | 1 | 118 | 0.0085 | 24 | c.329 others(45): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92478934 | C | CTCTTTCT others(17): Show |
intron_variant | MODIFIER | HG01978.hp1 HG01978.hp2 |
a0001a0008 | a0001c0005a0008c0007 | a0001c0005t0065a0008c0007t0049 | a0001c0005t0065g0004 a0008c0007t0049g0047 |
2 | 118 | 0.0170 | 24 | c.329 others(45): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92486130 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG03209.hp2 NA19009.hp2 |
a0039a0047 | a0039c0070a0047c0042 | a0039c0070t0046a0047c0042t0004 | a0039c0070t0046g0056 a0047c0042t0004g0097 |
2 | 118 | 0.0170 | 24 | c.329 others(45): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92553675 | C | CCCTTCCT others(17): Show |
intron_variant | MODIFIER | HG01069.hp2 HG02572.hp1 HG03195.hp2 others(3): Show |
a0001a0002a0006others(2): Show | a0001c0005a0001c0006a0002c0013others(3): Show | a0001c0005t0019a0001c0006t0005a0002c0013t0004others(3): Show | a0001c0005t0019g0089 a0001c0006t0005g0117 a0002c0013t0004g0059 others(3): Show |
6 | 118 | 0.0509 | 24 | c.360 others(45): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92608720 | C | CAATAATA others(17): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02055.hp2 HG02080.hp1 others(9): Show |
a0003a0004a0009others(7): Show | a0003c0011a0003c0030a0004c0012others(9): Show | a0003c0011t0071a0003c0030t0005a0004c0012t0004others(9): Show | a0003c0011t0071g0019 a0003c0030t0005g0095 a0004c0012t0004g0044 others(9): Show |
12 | 118 | 0.1017 | 24 | c.360 others(45): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92754627 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03453.hp1 NA18940.hp2 |
a0004a0020a0046 | a0004c0063a0020c0034a0046c0016 | a0004c0063t0059a0020c0034t0050a0046c0016t0031 | a0004c0063t0059g0118 a0020c0034t0050g0079 a0046c0016t0031g0036 |
3 | 118 | 0.0254 | 24 | c.367 others(43): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT4_chr4_125309955_125497932 | 125423282 | G | GAAGTCCT others(17): Show |
intron_variant | MODIFIER | NA18973.hp2 NA19079.hp2 |
a0005 | a0005c0004 | a0005c0004t0002 | a0005c0004t0002g0104 a0005c0004t0002g0111 |
2 | 320 | 0.0063 | 24 | c.701 others(43): Show |
FAT4 | ENSG00000196159.14 | transcript | ENST00000394329.9 | protein_coding | 7/17 | chr4 | TogoVar | |||||||
FAT4_chr4_125309955_125497932 | 125440610 | T | TGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02135.hp1 |
a0005a0016 | a0005c0103a0016c0065 | a0005c0103t0002a0016c0065t0008 | a0005c0103t0002g0123 a0016c0065t0008g0009 |
2 | 320 | 0.0063 | 24 | c.720 others(43): Show |
FAT4 | ENSG00000196159.14 | transcript | ENST00000394329.9 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FAXC_chr6_99266168_99354674 | 99269428 | G | GTGACAAT others(17): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG02257.hp2 HG02622.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0042a0001c0001t0062a0001c0001t0072others(1): Show | a0001c0001t0042g0075 a0001c0001t0042g0101 a0001c0001t0062g0048 others(2): Show |
5 | 398 | 0.0126 | 24 | c.*11 others(37): Show |
FAXC | ENSG00000146267.12 | transcript | ENST00000389677.6 | protein_coding | 1739 | chr6 | TogoVar | |||||||
FAXC_chr6_99266168_99354674 | 99288859 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | NA18949.hp1 NA18978.hp2 NA18998.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0040 | a0001c0001t0018g0066 a0001c0001t0018g0068 a0001c0001t0018g0070 others(1): Show |
4 | 398 | 0.0101 | 24 | c.940 others(41): Show |
FAXC | ENSG00000146267.12 | transcript | ENST00000389677.6 | protein_coding | 5/5 | chr6 | TogoVar | |||||||
FAXDC2_chr5_154813492_154855603 | 154825650 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01934.hp2 HG03486.hp1 HG04204.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 a0001c0001t0001g0111 a0001c0001t0001g0151 others(2): Show |
5 | 310 | 0.0161 | 24 | c.367 others(41): Show |
FAXDC2 | ENSG00000170271.11 | transcript | ENST00000326080.10 | protein_coding | 5/8 | chr5 | TogoVar | |||||||
FAXDC2_chr5_154813492_154855603 | 154835883 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0285 | 1 | 310 | 0.0032 | 24 | c.49- others(37): Show |
FAXDC2 | ENSG00000170271.11 | transcript | ENST00000326080.10 | protein_coding | 2/8 | chr5 | TogoVar | |||||||
FAXDC2_chr5_154813492_154855603 | 154850796 | G | GGCTTCCC others(17): Show |
upstream_gene_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 310 | 0.0032 | 24 | c.-31 others(33): Show |
FAXDC2 | ENSG00000170271.11 | transcript | ENST00000326080.10 | protein_coding | 194 | chr5 | TogoVar | |||||||
FBF1_chr17_75904574_75946042 | 75907506 | G | GTATTTTT others(17): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 NA19043.hp1 |
a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0032 a0004c0003t0001g0033 |
2 | 318 | 0.0063 | 24 | c.*32 others(35): Show |
FBF1 | ENSG00000188878.20 | transcript | ENST00000636174.2 | protein_coding | 2067 | chr17 | TogoVar | |||||||
FBLIM1_chr1_15753795_15791589 | 15787963 | A | AATATATA others(17): Show |
downstream_gene_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0095 | 1 | 354 | 0.0028 | 24 | c.*33 others(35): Show |
FBLIM1 | ENSG00000162458.13 | transcript | ENST00000375766.8 | protein_coding | 1375 | chr1 | TogoVar | |||||||
FBLN2_chr3_13544125_13643404 | 13554598 | A | AGTCCTTG others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(263): Show |
a0001a0002a0003others(23): Show | a0001c0003a0001c0004a0001c0005others(70): Show | a0001c0003t0002a0001c0003t0003a0001c0003t0006others(96): Show | a0001c0003t0002g0019 a0001c0003t0002g0038 a0001c0003t0002g0039 others(262): Show |
266 | 312 | 0.8526 | 24 | c.-42 others(41): Show |
FBLN2 | ENSG00000163520.14 | transcript | ENST00000404922.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FBLN2_chr3_13544125_13643404 | 13610897 | A | AATTATTA others(17): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0004 | a0004c0059 | a0004c0059t0010 | a0004c0059t0010g0011 | 1 | 312 | 0.0032 | 24 | c.154 others(43): Show |
FBLN2 | ENSG00000163520.14 | transcript | ENST00000404922.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FBLN2_chr3_13544125_13643404 | 13612294 | C | CCTTTCTT others(17): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01433.hp2 HG01884.hp1 others(23): Show |
a0001a0002a0003others(9): Show | a0001c0004a0001c0007a0001c0012others(18): Show | a0001c0004t0005a0001c0007t0002a0001c0012t0001others(19): Show | a0001c0004t0005g0247 a0001c0007t0002g0167 a0001c0012t0001g0251 others(23): Show |
26 | 312 | 0.0833 | 24 | c.154 others(43): Show |
FBLN2 | ENSG00000163520.14 | transcript | ENST00000404922.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FBLN2_chr3_13544125_13643404 | 13633954 | A | AACACACA others(17): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00733.hp1 HG01168.hp2 others(15): Show |
a0001a0002a0004others(4): Show | a0001c0003a0001c0004a0001c0006others(8): Show | a0001c0003t0002a0001c0004t0001a0001c0006t0001others(9): Show | a0001c0003t0002g0219 a0001c0003t0002g0225 a0001c0004t0001g0034 others(15): Show |
18 | 312 | 0.0577 | 24 | c.321 others(43): Show |
FBLN2 | ENSG00000163520.14 | transcript | ENST00000404922.8 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FBLN7_chr2_112133385_112193218 | 112134887 | C | CTTTTTTT others(17): Show |
upstream_gene_variant | MODIFIER | HG01255.hp2 HG02630.hp1 HG02970.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0022 others(12): Show |
16 | 346 | 0.0462 | 24 | c.-37 others(35): Show |
FBLN7 | ENSG00000144152.13 | transcript | ENST00000331203.7 | protein_coding | 3497 | chr2 | TogoVar | |||||||
FBLN7_chr2_112133385_112193218 | 112160846 | G | GCGCGCAC others(17): Show |
intron_variant | MODIFIER | NA19030.hp2 NA20805.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0056 a0002c0002t0003g0075 |
2 | 346 | 0.0058 | 24 | c.235 others(41): Show |
FBLN7 | ENSG00000144152.13 | transcript | ENST00000331203.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FBLN7_chr2_112133385_112193218 | 112163723 | G | GTCAGGCT others(17): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02970.hp1 NA19030.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0003 | a0001c0001t0001g0188 a0002c0002t0002g0056 a0002c0002t0003g0075 others(1): Show |
4 | 346 | 0.0116 | 24 | c.236 others(41): Show |
FBLN7 | ENSG00000144152.13 | transcript | ENST00000331203.7 | protein_coding | 2/7 | chr2 | TogoVar | |||||||
FBLN7_chr2_112133385_112193218 | 112167869 | C | CGTTATGT others(17): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00642.hp2 others(49): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0027 others(44): Show |
52 | 346 | 0.1503 | 24 | c.406 others(41): Show |
FBLN7 | ENSG00000144152.13 | transcript | ENST00000331203.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FBN1_chr15_48403313_48650709 | 48417448 | T | TTTCCTTC others(17): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 288 | 0.0035 | 24 | c.782 others(43): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | TogoVar | |||||||
FBN1_chr15_48403313_48650709 | 48435766 | G | GTGTATAT others(17): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00673.hp2 HG01123.hp2 others(50): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(11): Show | a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 others(50): Show |
53 | 288 | 0.1840 | 24 | c.649 others(43): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | TogoVar | |||||||
FBN1_chr15_48403313_48650709 | 48456843 | C | CGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0126 | 1 | 288 | 0.0035 | 24 | c.529 others(40): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | TogoVar | |||||||
FBN1_chr15_48403313_48650709 | 48567998 | T | TAAGAAAG others(17): Show |
intron_variant | MODIFIER | NA18944.hp2 NA18945.hp2 NA18969.hp2 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0005a0002c0003t0006 | a0002c0003t0005g0144 a0002c0003t0005g0159 a0002c0003t0005g0281 others(3): Show |
6 | 288 | 0.0208 | 24 | c.538 others(43): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | TogoVar | |||||||
FBN1_chr15_48403313_48650709 | 48568049 | G | GAAAGAAA others(17): Show |
intron_variant | MODIFIER | HG00408.hp1 NA18946.hp1 NA18992.hp2 others(1): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0019 | a0001c0001t0001a0001c0001t0009a0002c0003t0001others(1): Show | a0001c0001t0001g0090 a0001c0001t0009g0258 a0002c0003t0001g0162 others(1): Show |
4 | 288 | 0.0139 | 24 | c.538 others(43): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | TogoVar | |||||||
FBN1_chr15_48403313_48650709 | 48568049 | G | GAAAGAAA others(17): Show |
intron_variant | MODIFIER | HG01517.hp2 NA18962.hp2 NA19030.hp2 others(1): Show |
a0001a0012 | a0001c0001a0001c0005a0012c0024 | a0001c0001t0001a0001c0001t0002a0001c0005t0007others(1): Show | a0001c0001t0001g0183 a0001c0001t0002g0072 a0001c0005t0007g0207 others(1): Show |
4 | 288 | 0.0139 | 24 | c.538 others(43): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | TogoVar | |||||||
FBN1_chr15_48403313_48650709 | 48568049 | G | GAAAGAAA others(17): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02280.hp2 HG02809.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0010others(5): Show | a0001c0001t0002g0288 a0001c0001t0005g0141 a0001c0001t0010g0225 others(6): Show |
9 | 288 | 0.0313 | 24 | c.538 others(43): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | TogoVar | |||||||
FBN1_chr15_48403313_48650709 | 48568049 | G | GAAAGAAG others(17): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0201 | 1 | 288 | 0.0035 | 24 | c.538 others(43): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | TogoVar | |||||||
FBN2_chr5_128252909_128543245 | 128434394 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03540.hp1 NA18967.hp2 others(2): Show |
a0001a0004a0008 | a0001c0008a0004c0005a0008c0024 | a0001c0008t0028a0004c0005t0001a0008c0024t0009 | a0001c0008t0028g0113 a0004c0005t0001g0195 a0004c0005t0001g0196 others(2): Show |
5 | 236 | 0.0212 | 24 | c.952 others(43): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | TogoVar | |||||||
FBN2_chr5_128252909_128543245 | 128434394 | G | GTGTATAT others(17): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0003 | a0003c0028 | a0003c0028t0027 | a0003c0028t0027g0118 | 1 | 236 | 0.0042 | 24 | c.952 others(43): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | TogoVar | |||||||
FBN2_chr5_128252909_128543245 | 128434424 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01358.hp2 HG02572.hp1 others(5): Show |
a0001a0002 | a0001c0008a0001c0009a0001c0011others(2): Show | a0001c0008t0025a0001c0009t0002a0001c0011t0010others(3): Show | a0001c0008t0025g0115 a0001c0009t0002g0040 a0001c0009t0002g0049 others(5): Show |
8 | 236 | 0.0339 | 24 | c.952 others(43): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | TogoVar | |||||||
FBN3_chr19_8060402_8154592 | 8130691 | A | AAAAGAAA others(17): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0020 | a0020c0014 | a0020c0014t0001 | a0020c0014t0001g0112 | 1 | 380 | 0.0026 | 24 | c.204 others(41): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 16/63 | chr19 | TogoVar | |||||||
FBP1_chr9_94598133_94644518 | 94619874 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 358 | 0.0028 | 24 | c.333 others(39): Show |
FBP1 | ENSG00000165140.12 | transcript | ENST00000375326.9 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
FBP2_chr9_94553720_94598824 | 94579050 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 380 | 0.0026 | 24 | c.426 others(41): Show |
FBP2 | ENSG00000130957.5 | transcript | ENST00000375337.4 | protein_coding | 3/6 | chr9 | TogoVar | |||||||
FBRSL1_chr12_132485151_132590188 | 132565508 | T | TGTACACG others(17): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02109.hp1 others(5): Show |
a0002a0006a0025others(2): Show | a0002c0011a0006c0091a0006c0104others(3): Show | a0002c0011t0009a0006c0091t0018a0006c0104t0045others(3): Show | a0002c0011t0009g0088 a0002c0011t0009g0089 a0006c0091t0018g0069 others(5): Show |
8 | 348 | 0.0230 | 24 | c.646 others(41): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FBRSL1_chr12_132485151_132590188 | 132565512 | C | CACCTACC others(17): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0047 | a0047c0068 | a0047c0068t0052 | a0047c0068t0052g0085 | 1 | 348 | 0.0029 | 24 | c.646 others(41): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FBRSL1_chr12_132485151_132590188 | 132565512 | C | CACGTACC others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(206): Show |
a0001a0002a0003others(48): Show | a0001c0002a0001c0004a0001c0021others(66): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0007others(94): Show | a0001c0002t0002g0003 a0001c0002t0002g0060 a0001c0002t0002g0241 others(205): Show |
209 | 348 | 0.6006 | 24 | c.646 others(41): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FBRSL1_chr12_132485151_132590188 | 132565512 | C | CACGTACC others(17): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0006 | a0006c0079 | a0006c0079t0051 | a0006c0079t0051g0086 | 1 | 348 | 0.0029 | 24 | c.646 others(41): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FBRSL1_chr12_132485151_132590188 | 132565545 | G | GAGTGTGC others(17): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG01069.hp2 others(48): Show |
a0001a0002a0004others(12): Show | a0001c0004a0001c0056a0002c0005others(20): Show | a0001c0004t0001a0001c0004t0002a0001c0004t0031others(32): Show | a0001c0004t0001g0130 a0001c0004t0002g0114 a0001c0004t0031g0128 others(48): Show |
51 | 348 | 0.1466 | 24 | c.646 others(41): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FBRSL1_chr12_132485151_132590188 | 132578343 | T | TCACACAC others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00597.hp1 others(55): Show |
a0001a0002a0003others(12): Show | a0001c0002a0001c0004a0001c0056others(19): Show | a0001c0002t0007a0001c0004t0001a0001c0004t0003others(28): Show | a0001c0002t0007g0294 a0001c0004t0001g0036 a0001c0004t0001g0092 others(54): Show |
58 | 348 | 0.1667 | 24 | c.183 others(43): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FBRSL1_chr12_132485151_132590188 | 132578343 | T | TCTCACAC others(17): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0011 | a0011c0014 | a0011c0014t0001 | a0011c0014t0001g0161 | 1 | 348 | 0.0029 | 24 | c.183 others(43): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FBXL12_chr19_9805270_9824079 | 9820556 | G | GTATGTAT others(17): Show |
upstream_gene_variant | MODIFIER | HG01515.hp1 HG01517.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0047 a0001c0002t0001g0048 |
2 | 338 | 0.0059 | 24 | c.-17 others(35): Show |
FBXL12 | ENSG00000127452.9 | transcript | ENST00000247977.9 | protein_coding | 1478 | chr19 | TogoVar | |||||||
FBXL13_chr7_102806189_103079796 | 102834032 | T | TGAAGGAA others(17): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01515.hp1 HG01943.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0244 a0001c0002t0001g0247 a0001c0002t0001g0286 others(2): Show |
5 | 328 | 0.0152 | 24 | c.199 others(43): Show |
FBXL13 | ENSG00000161040.19 | transcript | ENST00000440067.4 | protein_coding | 18/20 | chr7 | TogoVar | |||||||
FBXL13_chr7_102806189_103079796 | 102951375 | C | CTAAATAA others(17): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 328 | 0.0031 | 24 | c.994 others(43): Show |
FBXL13 | ENSG00000161040.19 | transcript | ENST00000440067.4 | protein_coding | 9/20 | chr7 | TogoVar | |||||||
FBXL14_chr12_1560993_1599581 | 1593826 | T | TGCGGCGG others(17): Show |
conservative_inframe_insertion | MODERATE | NA18983.hp2 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0348 | 1 | 418 | 0.0024 | 24 | c.217 others(31): Show |
p.Arg others(35): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/2 | 755/2527 | 240/1257 | 80/418 | chr12 | TogoVar | |||
FBXL14_chr12_1560993_1599581 | 1594156 | A | AGCCGCCG others(17): Show |
5_prime_UTR_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0024 | 1 | 418 | 0.0024 | 24 | c.-11 others(32): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/2 | 91 | chr12 | TogoVar | ||||||
FBXL17_chr5_107854035_108387098 | 107871057 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0080 | 1 | 244 | 0.0041 | 24 | c.196 others(43): Show |
FBXL17 | ENSG00000145743.18 | transcript | ENST00000542267.7 | protein_coding | 8/8 | chr5 | TogoVar |