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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FAM149B1_chr10_73163119_73249504 | 73204944 | ATTTTTTT others(23): Show |
A | intron_variant | MODIFIER | HG03225.hp2 NA18973.hp1 NA18973.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0023 | a0001c0001t0001g0191a0001c0001t0001g0196a0001c0001t0001g0206others(1): Show | 4 | 236 | 0.0170 | -30 | c.543 others(47): Show |
FAM149B1 | ENSG00000138286.15 | transcript | ENST00000242505.11 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
FAM151B_chr5_80483100_80547563 | 80538418 | TTCTTTCT others(23): Show |
T | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0300 | 1 | 356 | 0.0028 | -30 | c.672 others(47): Show |
FAM151B | ENSG00000152380.10 | transcript | ENST00000282226.5 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
FAM161A_chr2_61819848_61859060 | 61849065 | TATAAATA others(23): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00639.hp2 others(47): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0020 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(2): Show | a0001c0001t0001g0114a0001c0001t0002g0011a0001c0001t0002g0186others(34): Show | 50 | 400 | 0.1250 | -30 | c.183 others(47): Show |
FAM161A | ENSG00000170264.13 | transcript | ENST00000404929.6 | protein_coding | 1/6 | chr2 | TogoVar | ||||||
FAM171A2_chr17_44348215_44368853 | 44368126 | ATATATAT others(23): Show |
A | upstream_gene_variant | MODIFIER | HG00323.hp1 HG01074.hp2 HG02965.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0006a0001c0004t0001g0008 | 4 | 416 | 0.0096 | -30 | c.-44 others(41): Show |
FAM171A2 | ENSG00000161682.15 | transcript | ENST00000293443.12 | protein_coding | 4274 | chr17 | TogoVar | ||||||
FAM171A2_chr17_44348215_44368853 | 44368128 | ATATATAT others(23): Show |
A | upstream_gene_variant | MODIFIER | HG03130.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0101 | 2 | 416 | 0.0048 | -30 | c.-44 others(41): Show |
FAM171A2 | ENSG00000161682.15 | transcript | ENST00000293443.12 | protein_coding | 4276 | chr17 | TogoVar | ||||||
FAM174B_chr15_92612448_92660775 | 92630815 | TATATTAC others(23): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG01192.hp2 HG01975.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0012a0001c0001t0020others(1): Show | a0001c0001t0004g0347a0001c0001t0012g0350a0001c0001t0020g0345others(1): Show | 4 | 394 | 0.0102 | -30 | c.345 others(45): Show |
FAM174B | ENSG00000185442.13 | transcript | ENST00000327355.6 | protein_coding | 1/2 | chr15 | TogoVar | ||||||
FAM178B_chr2_96870885_96991580 | 96987178 | CAAAAAAA others(23): Show |
C | upstream_gene_variant | MODIFIER | HG02717.hp2 HG02897.hp2 HG02965.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0012 | a0001c0001t0001a0001c0003t0001a0001c0012t0001 | a0001c0001t0001g0078a0001c0001t0001g0133a0001c0003t0001g0026others(2): Show | 5 | 250 | 0.0200 | -30 | c.-89 others(39): Show |
FAM178B | ENSG00000168754.15 | transcript | ENST00000490605.3 | protein_coding | 599 | chr2 | TogoVar | ||||||
FAM184B_chr4_17624306_17786621 | 17632043 | ATTTTTTT others(23): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02735.hp1 | a0006 | a0006c0014 | a0006c0014t0063 | a0006c0014t0063g0053 | 1 | 238 | 0.0042 | -30 | c.*45 others(39): Show |
FAM184B | ENSG00000047662.5 | transcript | ENST00000265018.4 | protein_coding | 18/18 | 459 | chr4 | TogoVar | |||||
FAM199X_chrX_104161453_104200902 | 104192255 | AGTAATAA others(23): Show |
A | 3_prime_UTR_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0008 | 1 | 285 | 0.0035 | -30 | c.*24 others(41): Show |
FAM199X | ENSG00000123575.9 | transcript | ENST00000493442.2 | protein_coding | 6/6 | 2479 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
FAM200A_chr7_99541300_99557114 | 99553014 | TACACATA others(23): Show |
T | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02486.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0024 | 9 | 378 | 0.0238 | -30 | c.-12 others(41): Show |
FAM200A | ENSG00000221909.3 | transcript | ENST00000449309.2 | protein_coding | 901 | chr7 | TogoVar | ||||||
FAM20A_chr17_68530116_68606367 | 68553915 | TACACACA others(23): Show |
T | intron_variant | MODIFIER | HG01099.hp2 HG01109.hp2 HG01891.hp2 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0253a0001c0001t0001g0349a0001c0001t0002g0280others(18): Show | 21 | 380 | 0.0553 | -30 | c.640 others(45): Show |
FAM20A | ENSG00000108950.12 | transcript | ENST00000592554.2 | protein_coding | 3/10 | chr17 | TogoVar | ||||||
FAM20A_chr17_68530116_68606367 | 68553937 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG01928.hp1 HG01934.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0155a0001c0001t0002g0311 | 2 | 380 | 0.0053 | -30 | c.640 others(45): Show |
FAM20A | ENSG00000108950.12 | transcript | ENST00000592554.2 | protein_coding | 3/10 | chr17 | TogoVar | ||||||
FAM20A_chr17_68530116_68606367 | 68581435 | CTTTTCTT others(23): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG03130.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0198a0002c0002t0001g0199 | 2 | 380 | 0.0053 | -30 | c.404 others(49): Show |
FAM20A | ENSG00000108950.12 | transcript | ENST00000592554.2 | protein_coding | 1/10 | chr17 | TogoVar | ||||||
FAM227B_chr15_49321970_49625818 | 49525665 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150a0001c0001t0001g0169 | 2 | 294 | 0.0068 | -30 | c.874 others(49): Show |
FAM227B | ENSG00000166262.16 | transcript | ENST00000299338.11 | protein_coding | 10/15 | chr15 | TogoVar | ||||||
FAM25A_chr10_87015294_87029730 | 87016702 | AAATAATA others(23): Show |
A | upstream_gene_variant | MODIFIER | HG02486.hp1 HG02965.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0025 | 2 | 444 | 0.0045 | -30 | c.-36 others(41): Show |
FAM25A | ENSG00000188100.9 | transcript | ENST00000343959.5 | protein_coding | 3591 | chr10 | TogoVar | ||||||
FAM78B_chr1_166064299_166172001 | 166109860 | ATGTATGT others(23): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG02071.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0214a0001c0001t0002g0215a0001c0001t0002g0240others(1): Show | 4 | 318 | 0.0126 | -30 | c.264 others(49): Show |
FAM78B | ENSG00000188859.7 | transcript | ENST00000354422.4 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
FAM98A_chr2_33578660_33604299 | 33594668 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG02698.hp2 HG03195.hp2 HG03927.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044a0001c0001t0001g0121a0001c0001t0001g0143others(1): Show | 5 | 406 | 0.0123 | -30 | c.202 others(45): Show |
FAM98A | ENSG00000119812.20 | transcript | ENST00000238823.13 | protein_coding | 2/7 | chr2 | TogoVar | ||||||
FAM98A_chr2_33578660_33604299 | 33594678 | TACACACA others(23): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 406 | 0.0025 | -30 | c.202 others(45): Show |
FAM98A | ENSG00000119812.20 | transcript | ENST00000238823.13 | protein_coding | 2/7 | chr2 | TogoVar | ||||||
FAM9B_chrX_9019232_9039127 | 9022155 | TTATATTA others(23): Show |
T | downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0035 | 1 | 258 | 0.0039 | -30 | c.*32 others(41): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 2076 | chrX | TogoVar | ||||||
FANCD2OS_chr3_10098937_10113255 | 10105759 | AAAAAAAA others(23): Show |
A | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0128 | 1 | 346 | 0.0029 | -30 | c.-8- others(44): Show |
FANCD2OS | ENSG00000163705.13 | transcript | ENST00000450660.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
FANCD2OS_chr3_10098937_10113255 | 10105761 | AAAAAAAA others(23): Show |
A | intron_variant | MODIFIER | HG01255.hp2 NA18961.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 | 3 | 346 | 0.0087 | -30 | c.-8- others(44): Show |
FANCD2OS | ENSG00000163705.13 | transcript | ENST00000450660.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
FANCD2OS_chr3_10098937_10113255 | 10105763 | AAAAAAAA others(23): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0118 | 1 | 346 | 0.0029 | -30 | c.-8- others(44): Show |
FANCD2OS | ENSG00000163705.13 | transcript | ENST00000450660.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
FANCD2OS_chr3_10098937_10113255 | 10105765 | AAAAAAAT others(23): Show |
A | intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0136 | 1 | 346 | 0.0029 | -30 | c.-8- others(44): Show |
FANCD2OS | ENSG00000163705.13 | transcript | ENST00000450660.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
FANCD2_chr3_10021437_10106932 | 10054389 | GTATATAC others(23): Show |
G | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01071.hp2 others(23): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0059others(23): Show | 26 | 242 | 0.1074 | -30 | c.165 others(49): Show |
FANCD2 | ENSG00000144554.13 | transcript | ENST00000675286.1 | protein_coding | 18/43 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
FANCD2_chr3_10021437_10106932 | 10105759 | AAAAAAAA others(23): Show |
A | downstream_gene_variant | MODIFIER | HG02602.hp2 | a0002 | a0002c0002 | a0002c0002t0017 | a0002c0002t0017g0178 | 1 | 242 | 0.0041 | -30 | c.*44 others(41): Show |
FANCD2 | ENSG00000144554.13 | transcript | ENST00000675286.1 | protein_coding | 3828 | chr3 | TogoVar | ||||||
FANCD2_chr3_10021437_10106932 | 10105761 | AAAAAAAA others(23): Show |
A | downstream_gene_variant | MODIFIER | HG01255.hp1 NA18961.hp1 NA20805.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0006 | a0002c0002t0002g0184a0002c0002t0002g0229a0002c0002t0006g0201 | 3 | 242 | 0.0124 | -30 | c.*45 others(41): Show |
FANCD2 | ENSG00000144554.13 | transcript | ENST00000675286.1 | protein_coding | 3830 | chr3 | TogoVar | ||||||
FANCD2_chr3_10021437_10106932 | 10105763 | AAAAAAAA others(23): Show |
A | downstream_gene_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0198 | 1 | 242 | 0.0041 | -30 | c.*45 others(41): Show |
FANCD2 | ENSG00000144554.13 | transcript | ENST00000675286.1 | protein_coding | 3832 | chr3 | TogoVar | ||||||
FANCL_chr2_58154247_58246325 | 58217191 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 390 | 0.0026 | -30 | c.374 others(47): Show |
FANCL | ENSG00000115392.13 | transcript | ENST00000233741.9 | protein_coding | 5/13 | chr2 | TogoVar | ||||||
FANCL_chr2_58154247_58246325 | 58217197 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085a0001c0001t0001g0086 | 2 | 390 | 0.0051 | -30 | c.374 others(47): Show |
FANCL | ENSG00000115392.13 | transcript | ENST00000233741.9 | protein_coding | 5/13 | chr2 | TogoVar | ||||||
FANCL_chr2_58154247_58246325 | 58217199 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG03209.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090a0001c0001t0001g0091a0001c0001t0001g0093 | 3 | 390 | 0.0077 | -30 | c.374 others(47): Show |
FANCL | ENSG00000115392.13 | transcript | ENST00000233741.9 | protein_coding | 5/13 | chr2 | TogoVar | ||||||
FANCL_chr2_58154247_58246325 | 58223575 | CAAAAGCA others(23): Show |
C | intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0340 | 1 | 390 | 0.0026 | -30 | c.274 others(47): Show |
FANCL | ENSG00000115392.13 | transcript | ENST00000233741.9 | protein_coding | 4/13 | chr2 | TogoVar | ||||||
FANK1_chr10_125891564_126014592 | 125952800 | TACACACA others(23): Show |
T | intron_variant | MODIFIER | HG02723.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076a0001c0001t0001g0077 | 2 | 370 | 0.0054 | -30 | c.14- others(47): Show |
FANK1 | ENSG00000203780.12 | transcript | ENST00000368693.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
FAP_chr2_162165684_162248445 | 162246523 | GAGAGCCT others(23): Show |
G | upstream_gene_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 234 | 0.0043 | -30 | c.-32 others(41): Show |
FAP | ENSG00000078098.15 | transcript | ENST00000188790.9 | protein_coding | 3079 | chr2 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5341207 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0038 | 1 | 170 | 0.0059 | -30 | c.-21 others(49): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FASTK_chr7_151071624_151085809 | 151084842 | TACACACA others(23): Show |
T | upstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 420 | 0.0024 | -30 | c.-41 others(41): Show |
FASTK | ENSG00000164896.21 | transcript | ENST00000297532.11 | protein_coding | 4034 | chr7 | TogoVar | ||||||
FAT1_chr4_186582794_186728856 | 186645366 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG01261.hp1 others(22): Show |
a0002a0006a0008others(11): Show | a0002c0002a0006c0005a0008c0018others(12): Show | a0002c0002t0012a0006c0005t0004a0006c0005t0055others(14): Show | a0002c0002t0012g0137a0002c0002t0012g0139a0006c0005t0004g0205others(22): Show | 25 | 338 | 0.0740 | -30 | c.358 others(49): Show |
FAT1 | ENSG00000083857.15 | transcript | ENST00000441802.7 | protein_coding | 3/26 | chr4 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92649871 | GTTCATAT others(23): Show |
G | intron_variant | MODIFIER | HG02630.hp2 HG02809.hp1 HG03041.hp2 others(3): Show |
a0003a0012a0028 | a0003c0010a0003c0019a0003c0032others(3): Show | a0003c0010t0026a0003c0019t0058a0003c0032t0013others(3): Show | a0003c0010t0026g0048a0003c0019t0058g0110a0003c0032t0013g0109others(3): Show | 6 | 118 | 0.0509 | -30 | c.360 others(51): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
FBLL1_chr5_168524305_168535634 | 168524960 | ATATATAT others(23): Show |
A | upstream_gene_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 460 | 0.0022 | -30 | c.-45 others(41): Show |
FBLL1 | ENSG00000188573.8 | transcript | ENST00000338333.5 | protein_coding | 4344 | chr5 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128479960 | CTCTCTCT others(23): Show |
C | intron_variant | MODIFIER | NA18975.hp2 NA18977.hp1 NA19077.hp2 |
a0001 | a0001c0001a0001c0052 | a0001c0001t0002a0001c0052t0002 | a0001c0001t0002g0073a0001c0001t0002g0077a0001c0052t0002g0081 | 3 | 236 | 0.0127 | -30 | c.629 others(49): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128479962 | CTCTCTCT others(23): Show |
C | intron_variant | MODIFIER | NA18992.hp2 NA19011.hp2 |
a0002a0003 | a0002c0002a0003c0064 | a0002c0002t0002a0003c0064t0004 | a0002c0002t0002g0067a0003c0064t0004g0080 | 2 | 236 | 0.0085 | -30 | c.629 others(49): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128479964 | CTCTCTCT others(23): Show |
C | intron_variant | MODIFIER | NA18951.hp1 NA18962.hp2 |
a0001a0015 | a0001c0001a0015c0049 | a0001c0001t0002a0015c0049t0002 | a0001c0001t0002g0079a0015c0049t0002g0066 | 2 | 236 | 0.0085 | -30 | c.629 others(49): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128479966 | CTCTCTCT others(23): Show |
C | intron_variant | MODIFIER | HG01884.hp1 NA18986.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0002 | a0001c0001t0001g0126a0003c0004t0002g0088 | 2 | 236 | 0.0085 | -30 | c.629 others(49): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128479968 | CTCTCTCT others(23): Show |
C | intron_variant | MODIFIER | HG01081.hp1 NA19240.hp2 |
a0001a0002 | a0001c0001a0002c0039 | a0001c0001t0003a0002c0039t0005 | a0001c0001t0003g0011a0002c0039t0005g0031 | 2 | 236 | 0.0085 | -30 | c.629 others(49): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128479970 | CTCTCTCT others(23): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG02559.hp2 others(2): Show |
a0001a0002a0003 | a0001c0011a0001c0033a0002c0055others(1): Show | a0001c0011t0009a0001c0033t0005a0002c0055t0008others(1): Show | a0001c0011t0009g0065a0001c0033t0005g0037a0002c0055t0008g0093others(2): Show | 5 | 236 | 0.0212 | -30 | c.629 others(49): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128479972 | CTCTCTAT others(23): Show |
C | intron_variant | MODIFIER | HG02922.hp1 HG02965.hp1 |
a0008a0026 | a0008c0042a0026c0070 | a0008c0042t0012a0026c0070t0002 | a0008c0042t0012g0054a0026c0070t0002g0105 | 2 | 236 | 0.0085 | -30 | c.629 others(49): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | TogoVar | ||||||
FBRSL1_chr12_132485151_132590188 | 132586833 | ACCCAGCG others(23): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(73): Show |
a0000a0001a0002others(7): Show | a0000c0009a0000c0015a0000c0020others(21): Show | a0000c0009t0008a0000c0015t0004a0000c0015t0035others(33): Show | a0000c0009t0008g0179a0000c0015t0004g0047a0000c0015t0035g0023others(73): Show | 76 | 348 | 0.2184 | -30 | c.*30 others(41): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 1646 | chr12 | TogoVar | ||||||
FBXL13_chr7_102806189_103079796 | 102826724 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG01975.hp2 HG02809.hp1 HG03516.hp1 |
a0001a0005 | a0001c0006a0005c0008 | a0001c0006t0001a0005c0008t0001 | a0001c0006t0001g0064a0005c0008t0001g0203a0005c0008t0001g0204 | 3 | 328 | 0.0092 | -30 | c.212 others(49): Show |
FBXL13 | ENSG00000161040.19 | transcript | ENST00000440067.4 | protein_coding | 19/20 | chr7 | TogoVar | ||||||
FBXL13_chr7_102806189_103079796 | 103024135 | AAGAGAGA others(23): Show |
A | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0154 | 1 | 328 | 0.0031 | -30 | c.765 others(45): Show |
FBXL13 | ENSG00000161040.19 | transcript | ENST00000440067.4 | protein_coding | 7/20 | chr7 | TogoVar | ||||||
FBXL17_chr5_107854035_108387098 | 107946255 | TTATATAT others(23): Show |
T | intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0005 | 1 | 244 | 0.0041 | -30 | c.182 others(51): Show |
FBXL17 | ENSG00000145743.18 | transcript | ENST00000542267.7 | protein_coding | 7/8 | chr5 | TogoVar | ||||||
FBXL17_chr5_107854035_108387098 | 108189287 | AGGATGGG others(23): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG02486.hp2 HG02723.hp2 others(6): Show |
a0001 | a0001c0001a0001c0004a0001c0014 | a0001c0001t0003a0001c0004t0030a0001c0004t0031others(4): Show | a0001c0001t0003g0115a0001c0004t0030g0238a0001c0004t0030g0239others(6): Show | 9 | 244 | 0.0369 | -30 | c.161 others(49): Show |
FBXL17 | ENSG00000145743.18 | transcript | ENST00000542267.7 | protein_coding | 5/8 | chr5 | TogoVar |