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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FAM50A_chrX_154439141_154455654 | 154444188 | TCGCCGCC others(12): Show |
T | 5_prime_UTR_variant | MODIFIER | HG01361.hp2 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0005a0001c0001t0005g0015 | 2 | 275 | 0.0073 | -19 | c.-31 others(26): Show |
FAM50A | ENSG00000071859.15 | transcript | ENST00000393600.8 | protein_coding | 1/13 | 13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
FAM78A_chr9_131253078_131281510 | 131256302 | ACACACAC others(12): Show |
A | downstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 418 | 0.0024 | -19 | c.*45 others(30): Show |
FAM78A | ENSG00000126882.14 | transcript | ENST00000372271.4 | protein_coding | 1775 | chr9 | TogoVar | ||||||
FAM81A_chr15_59433186_59528555 | 59499661 | AGTAAGAT others(12): Show |
A | intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0295 | 1 | 374 | 0.0027 | -19 | c.413 others(36): Show |
FAM81A | ENSG00000157470.12 | transcript | ENST00000288228.10 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
FAM83E_chr19_48594961_48620076 | 48596454 | GGCTGTGA others(12): Show |
G | downstream_gene_variant | MODIFIER | HG02071.hp2 HG02738.hp2 NA18945.hp1 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0001a0001c0004t0005g0198a0001c0004t0005g0203others(3): Show | 6 | 414 | 0.0145 | -19 | c.*46 others(30): Show |
FAM83E | ENSG00000105523.4 | transcript | ENST00000263266.4 | protein_coding | 3506 | chr19 | TogoVar | ||||||
FAM83E_chr19_48594961_48620076 | 48602703 | AAATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02723.hp2 | a0005 | a0005c0011 | a0005c0011t0010 | a0005c0011t0010g0160 | 1 | 414 | 0.0024 | -19 | c.117 others(36): Show |
FAM83E | ENSG00000105523.4 | transcript | ENST00000263266.4 | protein_coding | 6/6 | chr19 | TogoVar | ||||||
FAM83E_chr19_48594961_48620076 | 48602705 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG01517.hp1 HG02965.hp2 |
a0001a0002 | a0001c0004a0002c0001 | a0001c0004t0007a0002c0001t0060 | a0001c0004t0007g0024a0002c0001t0060g0277 | 2 | 414 | 0.0048 | -19 | c.117 others(36): Show |
FAM83E | ENSG00000105523.4 | transcript | ENST00000263266.4 | protein_coding | 6/6 | chr19 | TogoVar | ||||||
FAM83F_chr22_39989954_40048534 | 40007546 | TCTCCTCC others(12): Show |
T | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 234 | 0.0043 | -19 | c.490 others(38): Show |
FAM83F | ENSG00000133477.17 | transcript | ENST00000333407.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FAM9B_chrX_9019232_9039127 | 9025456 | TTTTTAAT others(12): Show |
T | intron_variant | MODIFIER | NA19075.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0056 | 1 | 258 | 0.0039 | -19 | c.*31 others(31): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 8/8 | chrX | TogoVar | ||||||
FANCA_chr16_89732549_89821647 | 89762378 | GAGCCTAG others(12): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00597.hp2 others(30): Show |
a0005a0008a0016others(3): Show | a0005c0005a0008c0008a0016c0019others(3): Show | a0005c0005t0001a0005c0005t0014a0008c0008t0001others(4): Show | a0005c0005t0001g0036a0005c0005t0001g0064a0005c0005t0001g0065others(30): Show | 33 | 334 | 0.0988 | -19 | c.277 others(36): Show |
FANCA | ENSG00000187741.16 | transcript | ENST00000389301.8 | protein_coding | 28/42 | chr16 | TogoVar | ||||||
FANCD2OS_chr3_10098937_10113255 | 10105762 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 346 | 0.0029 | -19 | c.-8- others(32): Show |
FANCD2OS | ENSG00000163705.13 | transcript | ENST00000450660.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
FANCD2OS_chr3_10098937_10113255 | 10105770 | AATTATAT others(12): Show |
A | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 346 | 0.0029 | -19 | c.-8- others(33): Show |
FANCD2OS | ENSG00000163705.13 | transcript | ENST00000450660.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
FANCD2_chr3_10021437_10106932 | 10105762 | AAAAAAAA others(12): Show |
A | downstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0125 | 1 | 242 | 0.0041 | -19 | c.*45 others(30): Show |
FANCD2 | ENSG00000144554.13 | transcript | ENST00000675286.1 | protein_coding | 3831 | chr3 | TogoVar | ||||||
FANCD2_chr3_10021437_10106932 | 10105770 | AATTATAT others(12): Show |
A | downstream_gene_variant | MODIFIER | HG02970.hp1 | a0014 | a0014c0015 | a0014c0015t0001 | a0014c0015t0001g0027 | 1 | 242 | 0.0041 | -19 | c.*45 others(30): Show |
FANCD2 | ENSG00000144554.13 | transcript | ENST00000675286.1 | protein_coding | 3839 | chr3 | TogoVar | ||||||
FANCI_chr15_89238979_89322131 | 89245334 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG01928.hp2 HG02040.hp2 others(17): Show |
a0001a0002a0003others(3): Show | a0001c0003a0002c0002a0003c0006others(4): Show | a0001c0003t0003a0002c0002t0002a0003c0006t0002others(4): Show | a0001c0003t0003g0200a0002c0002t0002g0122a0003c0006t0002g0004others(16): Show | 20 | 346 | 0.0578 | -19 | c.-20 others(36): Show |
FANCI | ENSG00000140525.20 | transcript | ENST00000310775.12 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
FANCL_chr2_58154247_58246325 | 58219164 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0018 | 1 | 390 | 0.0026 | -19 | c.374 others(36): Show |
FANCL | ENSG00000115392.13 | transcript | ENST00000233741.9 | protein_coding | 5/13 | chr2 | TogoVar | ||||||
FANCL_chr2_58154247_58246325 | 58219168 | AAAAATAT others(12): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 390 | 0.0026 | -19 | c.374 others(36): Show |
FANCL | ENSG00000115392.13 | transcript | ENST00000233741.9 | protein_coding | 5/13 | chr2 | TogoVar | ||||||
FANCL_chr2_58154247_58246325 | 58219170 | AAATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098a0001c0001t0001g0099 | 2 | 390 | 0.0051 | -19 | c.374 others(36): Show |
FANCL | ENSG00000115392.13 | transcript | ENST00000233741.9 | protein_coding | 5/13 | chr2 | TogoVar | ||||||
FAR2_chr12_29144278_29340616 | 29186747 | CTTTATTT others(12): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00423.hp2 others(203): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0031a0001c0001t0001g0032a0001c0001t0001g0038others(201): Show | 206 | 326 | 0.6319 | -19 | c.-39 others(38): Show |
FAR2 | ENSG00000064763.12 | transcript | ENST00000536681.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
FAR2_chr12_29144278_29340616 | 29188445 | AGGGATAA others(12): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG01169.hp2 HG01257.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0233a0001c0001t0002g0190a0001c0001t0002g0230others(12): Show | 15 | 326 | 0.0460 | -19 | c.-39 others(38): Show |
FAR2 | ENSG00000064763.12 | transcript | ENST00000536681.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
FARP1_chr13_98138094_98460176 | 98165710 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0085 | a0001c0001t0085g0023 | 1 | 218 | 0.0046 | -19 | c.-24 others(38): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
FARP1_chr13_98138094_98460176 | 98308029 | CTCTCTTT others(12): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(132): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(63): Show | a0001c0001t0002g0027a0001c0001t0002g0035a0001c0001t0002g0039others(132): Show | 135 | 218 | 0.6193 | -19 | c.172 others(38): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
FARP1_chr13_98138094_98460176 | 98350982 | ACCCTGCC others(12): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG01243.hp1 HG01981.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0031a0001c0001t0042a0001c0001t0043others(12): Show | a0001c0001t0031g0216a0001c0001t0042g0172a0001c0001t0043g0199others(12): Show | 15 | 218 | 0.0688 | -19 | c.276 others(36): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
FARP2_chr2_241351285_241499841 | 241402859 | TATATATA others(12): Show |
T | intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 378 | 0.0027 | -19 | c.184 others(34): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 2/26 | chr2 | TogoVar | ||||||
FARP2_chr2_241351285_241499841 | 241402861 | TATATATA others(12): Show |
T | intron_variant | MODIFIER | HG00609.hp1 NA19090.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0017a0001c0003t0001g0037 | 2 | 378 | 0.0053 | -19 | c.184 others(34): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 2/26 | chr2 | TogoVar | ||||||
FARP2_chr2_241351285_241499841 | 241402862 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG01192.hp1 NA18995.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0023a0001c0003t0001g0060 | 2 | 378 | 0.0053 | -19 | c.184 others(34): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
FARP2_chr2_241351285_241499841 | 241402864 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02451.hp2 NA18987.hp2 |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0005c0008t0001 | a0001c0001t0001g0269a0005c0008t0001g0147 | 2 | 378 | 0.0053 | -19 | c.184 others(34): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
FARP2_chr2_241351285_241499841 | 241402868 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02698.hp2 HG03831.hp2 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0246a0001c0006t0001g0251 | 2 | 378 | 0.0053 | -19 | c.184 others(34): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
FARP2_chr2_241351285_241499841 | 241402870 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | NA18984.hp2 NA19077.hp1 NA19085.hp2 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0236a0001c0006t0001g0247a0001c0006t0001g0248 | 3 | 378 | 0.0079 | -19 | c.184 others(34): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
FARP2_chr2_241351285_241499841 | 241474317 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125a0001c0001t0001g0126 | 2 | 378 | 0.0053 | -19 | c.213 others(38): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
FAT1_chr4_186582794_186728856 | 186711976 | TTGTTTTA others(12): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02451.hp1 HG02723.hp2 others(4): Show |
a0045a0103a0104others(3): Show | a0045c0049a0103c0116a0104c0118others(3): Show | a0045c0049t0003a0103c0116t0014a0104c0118t0040others(3): Show | a0045c0049t0003g0099a0045c0049t0003g0100a0103c0116t0014g0107others(4): Show | 7 | 338 | 0.0207 | -19 | c.-18 others(36): Show |
FAT1 | ENSG00000083857.15 | transcript | ENST00000441802.7 | protein_coding | 1/26 | chr4 | TogoVar | ||||||
FAT4_chr4_125309955_125497932 | 125471895 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02622.hp1 HG03471.hp2 others(1): Show |
a0008 | a0008c0013a0008c0044a0008c0103 | a0008c0013t0002a0008c0044t0002a0008c0103t0006 | a0008c0013t0002g0194a0008c0044t0002g0077a0008c0044t0002g0078others(1): Show | 4 | 320 | 0.0125 | -19 | c.122 others(40): Show |
FAT4 | ENSG00000196159.14 | transcript | ENST00000394329.9 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
FAXDC2_chr5_154813492_154855603 | 154852881 | TTAAGCGA others(12): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00597.hp2 others(85): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(6): Show | a0001c0001t0001g0082a0001c0001t0001g0083a0001c0001t0001g0093others(79): Show | 88 | 310 | 0.2839 | -19 | c.-24 others(30): Show |
FAXDC2 | ENSG00000170271.11 | transcript | ENST00000326080.10 | protein_coding | 2279 | chr5 | TogoVar | ||||||
FBLN1_chr22_45497883_45606135 | 45589060 | GTATTTTT others(12): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(163): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0009others(162): Show | 166 | 346 | 0.4798 | -19 | c.197 others(40): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FBLN2_chr3_13544125_13643404 | 13567516 | CCTGGCTA others(12): Show |
C | intron_variant | MODIFIER | NA18522.hp1 | a0006 | a0006c0080 | a0006c0080t0008 | a0006c0080t0008g0239 | 1 | 312 | 0.0032 | -19 | c.-41 others(36): Show |
FBLN2 | ENSG00000163520.14 | transcript | ENST00000404922.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
FBLN7_chr2_112133385_112193218 | 112156901 | ATTCCCAC others(12): Show |
A | intron_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 346 | 0.0029 | -19 | c.76- others(34): Show |
FBLN7 | ENSG00000144152.13 | transcript | ENST00000331203.7 | protein_coding | 1/7 | chr2 | TogoVar | ||||||
FBN1_chr15_48403313_48650709 | 48567998 | TAAGAAAG others(12): Show |
T | intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0033 | 1 | 288 | 0.0035 | -19 | c.538 others(38): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | TogoVar | ||||||
FBN1_chr15_48403313_48650709 | 48568030 | AAAGAAAG others(12): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00741.hp2 HG01255.hp2 others(7): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0002t0003a0001c0004t0004 | a0001c0002t0002g0006a0001c0002t0003g0026a0001c0002t0003g0037others(7): Show | 10 | 288 | 0.0347 | -19 | c.538 others(38): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128255537 | AGTTTGCA others(12): Show |
A | downstream_gene_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0015 | a0002c0015t0008 | a0002c0015t0008g0024 | 1 | 236 | 0.0042 | -19 | c.*38 others(30): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2371 | chr5 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128310388 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00558.hp2 others(15): Show |
a0001a0002a0010 | a0001c0001a0001c0045a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0045t0006others(2): Show | a0001c0001t0001g0142a0001c0001t0001g0143a0001c0001t0001g0144others(15): Show | 18 | 236 | 0.0763 | -19 | c.507 others(36): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128310390 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG02559.hp1 HG02630.hp1 others(4): Show |
a0001a0002a0019 | a0001c0001a0001c0008a0001c0014others(3): Show | a0001c0001t0001a0001c0008t0028a0001c0014t0014others(3): Show | a0001c0001t0001g0147a0001c0001t0001g0148a0001c0008t0028g0113others(4): Show | 7 | 236 | 0.0297 | -19 | c.507 others(36): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128310392 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG03041.hp2 HG03139.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0005a0001c0003t0005a0001c0009t0006others(2): Show | a0001c0001t0005g0087a0001c0003t0005g0100a0001c0009t0006g0028others(2): Show | 5 | 236 | 0.0212 | -19 | c.507 others(36): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128310394 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | NA18940.hp1 | a0017 | a0017c0061 | a0017c0061t0031 | a0017c0061t0031g0169 | 1 | 236 | 0.0042 | -19 | c.507 others(36): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128449383 | CTATATAA others(12): Show |
C | intron_variant | MODIFIER | HG03209.hp2 | a0027 | a0027c0027 | a0027c0027t0008 | a0027c0027t0008g0020 | 1 | 236 | 0.0042 | -19 | c.827 others(36): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128455990 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02970.hp2 HG03471.hp1 |
a0002a0003 | a0002c0032a0002c0034a0003c0004 | a0002c0032t0009a0002c0034t0004a0003c0004t0002 | a0002c0032t0009g0039a0002c0034t0004g0038a0003c0004t0002g0103 | 3 | 236 | 0.0127 | -19 | c.826 others(36): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | TogoVar | ||||||
FBXL13_chr7_102806189_103079796 | 102834058 | AAGGAAGG others(12): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02615.hp1 HG02723.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0009a0001c0002t0021 | a0001c0002t0003g0132a0001c0002t0003g0134a0001c0002t0003g0135others(4): Show | 7 | 328 | 0.0213 | -19 | c.199 others(38): Show |
FBXL13 | ENSG00000161040.19 | transcript | ENST00000440067.4 | protein_coding | 18/20 | chr7 | TogoVar | ||||||
FBXL13_chr7_102806189_103079796 | 103016573 | TAGCCAAG others(12): Show |
T | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0136 | 1 | 328 | 0.0031 | -19 | c.765 others(36): Show |
FBXL13 | ENSG00000161040.19 | transcript | ENST00000440067.4 | protein_coding | 7/20 | chr7 | TogoVar | ||||||
FBXL13_chr7_102806189_103079796 | 103025387 | GTTTAATG others(12): Show |
G | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0154 | 1 | 328 | 0.0031 | -19 | c.598 others(34): Show |
FBXL13 | ENSG00000161040.19 | transcript | ENST00000440067.4 | protein_coding | 6/20 | chr7 | TogoVar | ||||||
FBXL13_chr7_102806189_103079796 | 103060044 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0288 | 1 | 328 | 0.0031 | -19 | c.76- others(34): Show |
FBXL13 | ENSG00000161040.19 | transcript | ENST00000440067.4 | protein_coding | 1/20 | chr7 | TogoVar | ||||||
FBXL17_chr5_107854035_108387098 | 107913085 | GATTAGCT others(12): Show |
G | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0159 | 1 | 244 | 0.0041 | -19 | c.182 others(40): Show |
FBXL17 | ENSG00000145743.18 | transcript | ENST00000542267.7 | protein_coding | 7/8 | chr5 | TogoVar | ||||||
FBXL17_chr5_107854035_108387098 | 108009272 | TATATATA others(12): Show |
T | intron_variant | MODIFIER | NA19030.hp2 | a0004 | a0004c0006 | a0004c0006t0062 | a0004c0006t0062g0076 | 1 | 244 | 0.0041 | -19 | c.182 others(40): Show |
FBXL17 | ENSG00000145743.18 | transcript | ENST00000542267.7 | protein_coding | 7/8 | chr5 | TogoVar |