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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FAM86B1_chr8_12177106_12199082 | 12177738 | C | CTTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG02486.hp2 NA19001.hp2 |
a0002a0005 | a0002c0003a0005c0007 | a0002c0003t0001a0005c0007t0004a0005c0007t0012 | a0002c0003t0001g0069a0005c0007t0004g0025a0005c0007t0012g0032 | 3 | 176 | 0.0171 | 19 | c.*58 others(30): Show |
FAM86B1 | ENSG00000186523.15 | transcript | ENST00000448228.7 | protein_coding | 4367 | chr8 | TogoVar | ||||||
FAM86B2_chr8_12419421_12441400 | 12420057 | C | CTTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0011 | a0011c0013 | a0011c0013t0014 | a0011c0013t0014g0012 | 1 | 50 | 0.0200 | 19 | c.*58 others(30): Show |
FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4363 | chr8 | TogoVar | ||||||
FAM86B2_chr8_12419421_12441400 | 12440210 | A | AAAAAAAC others(12): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02895.hp2 HG03490.hp1 |
a0006a0011 | a0006c0006a0006c0012a0011c0013 | a0006c0006t0008a0006c0012t0011a0011c0013t0014 | a0006c0006t0008g0001a0006c0012t0011g0005a0011c0013t0014g0012 | 3 | 50 | 0.0600 | 19 | c.-38 others(30): Show |
FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3811 | chr8 | TogoVar | ||||||
FAM90A1_chr12_8216260_8232618 | 8226802 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0003 | a0003c0003 | a0003c0003t0046 | a0003c0003t0046g0182 | 1 | 466 | 0.0022 | 19 | c.-42 others(36): Show |
FAM90A1 | ENSG00000171847.11 | transcript | ENST00000538603.6 | protein_coding | 1/6 | chr12 | TogoVar | ||||||
FAM9C_chrX_13030617_13049620 | 13045332 | C | CTCCCACC others(12): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 315 | 0.0032 | 19 | c.-86 others(28): Show |
FAM9C | ENSG00000187268.12 | transcript | ENST00000380625.8 | protein_coding | 713 | chrX | TogoVar | ||||||
FAN1_chr15_30898915_30948108 | 30932141 | G | GAACTCAG others(12): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0158 | 1 | 303 | 0.0033 | 19 | c.291 others(38): Show |
FAN1 | ENSG00000198690.10 | transcript | ENST00000362065.9 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
FANCA_chr16_89732549_89821647 | 89759318 | T | TTAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03516.hp1 NA18522.hp2 |
a0012 | a0012c0013 | a0012c0013t0007 | a0012c0013t0007g0079a0012c0013t0007g0081a0012c0013t0007g0095 | 3 | 334 | 0.0090 | 19 | c.285 others(36): Show |
FANCA | ENSG00000187741.16 | transcript | ENST00000389301.8 | protein_coding | 29/42 | chr16 | TogoVar | ||||||
FANCA_chr16_89732549_89821647 | 89812646 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01978.hp2 HG02300.hp2 others(1): Show |
a0004a0009a0014others(1): Show | a0004c0004a0009c0010a0014c0015others(1): Show | a0004c0004t0002a0009c0010t0002a0014c0015t0002others(1): Show | a0004c0004t0002g0300a0009c0010t0002g0289a0014c0015t0002g0008others(1): Show | 4 | 334 | 0.0120 | 19 | c.284 others(36): Show |
FANCA | ENSG00000187741.16 | transcript | ENST00000389301.8 | protein_coding | 3/42 | chr16 | TogoVar | ||||||
FANCD2_chr3_10021437_10106932 | 10036086 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02896.hp1 HG02897.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0006 | a0002c0002t0002g0179a0002c0002t0002g0191a0002c0002t0002g0192others(2): Show | 5 | 242 | 0.0207 | 19 | c.439 others(34): Show |
FANCD2 | ENSG00000144554.13 | transcript | ENST00000675286.1 | protein_coding | 6/43 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
FANCI_chr15_89238979_89322131 | 89286977 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG02723.hp1 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0003a0001c0004t0009 | a0001c0001t0001g0020a0001c0004t0003g0089a0001c0004t0003g0090others(6): Show | 9 | 346 | 0.0260 | 19 | c.182 others(38): Show |
FANCI | ENSG00000140525.20 | transcript | ENST00000310775.12 | protein_coding | 18/37 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
FANK1_chr10_125891564_126014592 | 125906515 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 370 | 0.0027 | 19 | c.13+ others(34): Show |
FANK1 | ENSG00000203780.12 | transcript | ENST00000368693.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
FANK1_chr10_125891564_126014592 | 125919195 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01074.hp1 HG03017.hp1 NA18982.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097a0001c0001t0001g0188a0001c0001t0001g0197 | 3 | 370 | 0.0081 | 19 | c.13+ others(36): Show |
FANK1 | ENSG00000203780.12 | transcript | ENST00000368693.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
FARP1_chr13_98138094_98460176 | 98151660 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01071.hp2 HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0023 | a0001c0001t0020g0004a0001c0001t0020g0005a0001c0001t0023g0003 | 3 | 218 | 0.0138 | 19 | c.-24 others(36): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
FARP1_chr13_98138094_98460176 | 98277149 | C | CACACACA others(12): Show |
intron_variant | MODIFIER | HG02148.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0018 | a0001c0001t0005g0061a0001c0001t0018g0015 | 2 | 218 | 0.0092 | 19 | c.171 others(38): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 2/26 | chr13 | TogoVar | ||||||
FARP1_chr13_98138094_98460176 | 98350982 | A | ACCCTGCC others(12): Show |
intron_variant | MODIFIER | HG01516.hp2 HG02280.hp1 HG02602.hp1 others(10): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0002g0054a0001c0001t0004g0198a0001c0001t0005g0036others(10): Show | 13 | 218 | 0.0596 | 19 | c.276 others(36): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
FARP1_chr13_98138094_98460176 | 98401415 | A | ACACACAC others(12): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01891.hp1 HG02109.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0016a0001c0001t0056a0001c0001t0074others(3): Show | a0001c0001t0016g0106a0001c0001t0056g0074a0001c0001t0074g0160others(4): Show | 7 | 218 | 0.0321 | 19 | c.141 others(38): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 13/26 | chr13 | TogoVar | ||||||
FARP2_chr2_241351285_241499841 | 241402880 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG03942.hp2 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085a0001c0001t0001g0206 | 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 | 241402880 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | NA18979.hp2 NA18995.hp2 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065a0001c0001t0001g0069a0001c0001t0001g0070 | 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 | |||||
FARSA_chr19_12917479_12938711 | 12920125 | A | ACACACAC others(12): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(33): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(18): Show | 36 | 346 | 0.1041 | 19 | c.*26 others(30): Show |
FARSA | ENSG00000179115.11 | transcript | ENST00000314606.9 | protein_coding | 2353 | chr19 | TogoVar | ||||||
FARSB_chr2_222561899_222661092 | 222605161 | T | TCTCTCTC others(12): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 344 | 0.0029 | 19 | c.146 others(38): Show |
FARSB | ENSG00000116120.11 | transcript | ENST00000281828.8 | protein_coding | 15/16 | chr2 | TogoVar | ||||||
FASTKD1_chr2_169523508_169578865 | 169561744 | C | CATTATAA others(12): Show |
intron_variant | MODIFIER | HG00609.hp2 NA18747.hp2 NA18945.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0252a0001c0001t0001g0253others(2): Show | 6 | 392 | 0.0153 | 19 | c.573 others(34): Show |
FASTKD1 | ENSG00000138399.18 | transcript | ENST00000453153.7 | protein_coding | 4/14 | chr2 | TogoVar | ||||||
FASTKD1_chr2_169523508_169578865 | 169561781 | A | ATTAATTT others(12): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0315 | 1 | 392 | 0.0026 | 19 | c.573 others(35): Show |
FASTKD1 | ENSG00000138399.18 | transcript | ENST00000453153.7 | protein_coding | 4/14 | chr2 | TogoVar | ||||||
FASTKD1_chr2_169523508_169578865 | 169561862 | A | ATTATTTA others(12): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0187 | 1 | 392 | 0.0026 | 19 | c.573 others(36): Show |
FASTKD1 | ENSG00000138399.18 | transcript | ENST00000453153.7 | protein_coding | 4/14 | chr2 | TogoVar | ||||||
FAT1_chr4_186582794_186728856 | 186651042 | A | ACTATTAT others(12): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(254): Show |
a0001a0002a0003others(98): Show | a0001c0001a0001c0020a0001c0072others(128): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(152): Show | a0001c0001t0001g0282a0001c0001t0002g0124a0001c0001t0002g0125others(254): Show | 257 | 338 | 0.7604 | 19 | c.358 others(40): Show |
FAT1 | ENSG00000083857.15 | transcript | ENST00000441802.7 | protein_coding | 3/26 | chr4 | TogoVar | ||||||
FAT1_chr4_186582794_186728856 | 186682526 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0124 | a0124c0164 | a0124c0164t0006 | a0124c0164t0006g0097 | 1 | 338 | 0.0030 | 19 | c.326 others(40): Show |
FAT1 | ENSG00000083857.15 | transcript | ENST00000441802.7 | protein_coding | 2/26 | chr4 | TogoVar | ||||||
FAT1_chr4_186582794_186728856 | 186689560 | A | AACATCAC others(12): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01433.hp2 HG02293.hp2 others(12): Show |
a0005a0027a0041others(11): Show | a0005c0166a0027c0047a0041c0046others(11): Show | a0005c0166t0010a0027c0047t0003a0041c0046t0001others(11): Show | a0005c0166t0010g0152a0027c0047t0003g0081a0041c0046t0001g0133others(12): Show | 15 | 338 | 0.0444 | 19 | c.326 others(40): Show |
FAT1 | ENSG00000083857.15 | transcript | ENST00000441802.7 | protein_coding | 2/26 | chr4 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92411050 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02109.hp1 others(19): Show |
a0001a0002a0003others(10): Show | a0001c0006a0001c0035a0001c0036others(19): Show | a0001c0006t0005a0001c0035t0033a0001c0036t0016others(19): Show | a0001c0006t0005g0117a0001c0035t0033g0068a0001c0036t0016g0033others(19): Show | 22 | 118 | 0.1864 | 19 | c.329 others(40): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
FAT3_chr11_92219818_92901473 | 92411058 | T | TAAATATA others(12): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02630.hp2 HG02965.hp2 |
a0002a0012a0040 | a0002c0031a0012c0065a0040c0056 | a0002c0031t0007a0012c0065t0035a0040c0056t0070 | a0002c0031t0007g0030a0012c0065t0035g0069a0040c0056t0070g0021 | 3 | 118 | 0.0254 | 19 | c.329 others(40): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
FAT3_chr11_92219818_92901473 | 92478953 | T | TTTCTTTC others(12): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0036 | a0001c0036t0016 | a0001c0036t0016g0033 | 1 | 118 | 0.0085 | 19 | c.329 others(40): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
FAT3_chr11_92219818_92901473 | 92551414 | T | TTGTTTTG others(12): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01169.hp2 HG01978.hp1 others(2): Show |
a0001a0002a0004others(1): Show | a0001c0005a0001c0025a0002c0031others(2): Show | a0001c0005t0065a0001c0025t0011a0002c0031t0007others(2): Show | a0001c0005t0065g0004a0001c0025t0011g0076a0002c0031t0007g0030others(2): Show | 5 | 118 | 0.0424 | 19 | c.360 others(40): 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(12): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01074.hp1 HG02258.hp1 others(3): Show |
a0001a0002a0003others(2): Show | a0001c0052a0002c0001a0003c0011others(2): Show | a0001c0052t0015a0002c0001t0038a0003c0011t0005others(3): Show | a0001c0052t0015g0027a0002c0001t0038g0032a0003c0011t0005g0053others(3): Show | 6 | 118 | 0.0509 | 19 | c.367 others(38): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
FAT4_chr4_125309955_125497932 | 125366507 | T | TGGGTATT others(12): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0008 | a0008c0013 | a0008c0013t0002 | a0008c0013t0002g0121 | 1 | 320 | 0.0031 | 19 | c.517 others(40): Show |
FAT4 | ENSG00000196159.14 | transcript | ENST00000394329.9 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
FAT4_chr4_125309955_125497932 | 125423282 | G | GAAGTCCT others(12): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0005 | a0005c0004 | a0005c0004t0002 | a0005c0004t0002g0110 | 1 | 320 | 0.0031 | 19 | c.701 others(38): Show |
FAT4 | ENSG00000196159.14 | transcript | ENST00000394329.9 | protein_coding | 7/17 | chr4 | TogoVar | ||||||
FAXDC2_chr5_154813492_154855603 | 154825650 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG01069.hp2 others(24): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0018a0001c0001t0001g0019others(22): Show | 27 | 310 | 0.0871 | 19 | c.367 others(36): Show |
FAXDC2 | ENSG00000170271.11 | transcript | ENST00000326080.10 | protein_coding | 5/8 | chr5 | TogoVar | ||||||
FAXDC2_chr5_154813492_154855603 | 154835883 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01516.hp2 HG02015.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0260a0001c0001t0002g0265a0001c0001t0002g0269others(4): Show | 7 | 310 | 0.0226 | 19 | c.49- others(32): Show |
FAXDC2 | ENSG00000170271.11 | transcript | ENST00000326080.10 | protein_coding | 2/8 | chr5 | TogoVar | ||||||
FBLIM1_chr1_15753795_15791589 | 15787963 | A | AAAAAAAT others(12): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 354 | 0.0028 | 19 | c.*33 others(30): Show |
FBLIM1 | ENSG00000162458.13 | transcript | ENST00000375766.8 | protein_coding | 1375 | chr1 | TogoVar | ||||||
FBLN1_chr22_45497883_45606135 | 45568415 | T | TTTCTGTA others(12): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01257.hp1 HG01258.hp1 others(8): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0069a0001c0001t0001g0102a0001c0001t0001g0106others(8): Show | 11 | 346 | 0.0318 | 19 | c.169 others(38): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FBLN1_chr22_45497883_45606135 | 45568490 | T | TCTTCTGT others(12): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 346 | 0.0029 | 19 | c.169 others(38): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FBLN2_chr3_13544125_13643404 | 13612294 | C | CTTTCTTT others(12): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG03041.hp2 |
a0005a0007 | a0005c0008a0007c0031 | a0005c0008t0004a0007c0031t0001 | a0005c0008t0004g0283a0007c0031t0001g0136a0007c0031t0001g0137 | 3 | 312 | 0.0096 | 19 | c.154 others(38): Show |
FBLN2 | ENSG00000163520.14 | transcript | ENST00000404922.8 | protein_coding | 4/17 | chr3 | TogoVar | ||||||
FBLN2_chr3_13544125_13643404 | 13633954 | A | ACACACAC others(12): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0011 | a0011c0032 | a0011c0032t0014 | a0011c0032t0014g0285 | 1 | 312 | 0.0032 | 19 | c.321 others(38): Show |
FBLN2 | ENSG00000163520.14 | transcript | ENST00000404922.8 | protein_coding | 16/17 | chr3 | TogoVar | ||||||
FBLN7_chr2_112133385_112193218 | 112167869 | C | CGTTATGT others(12): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG01109.hp2 others(31): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0005a0001c0001t0001g0021a0001c0001t0001g0022others(27): Show | 34 | 346 | 0.0983 | 19 | c.406 others(36): Show |
FBLN7 | ENSG00000144152.13 | transcript | ENST00000331203.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
FBN1_chr15_48403313_48650709 | 48417469 | T | TTCCTTCC others(12): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(17): Show |
a0001 | a0001c0004 | a0001c0004t0004a0001c0004t0016a0001c0004t0022 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0052others(17): Show | 20 | 288 | 0.0694 | 19 | c.782 others(38): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | TogoVar | ||||||
FBN1_chr15_48403313_48650709 | 48568026 | A | AAAGAAAG others(12): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0005 | a0001c0005t0014 | a0001c0005t0014g0196 | 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 | 48568046 | A | AAAGAAAG others(12): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 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 | 48568049 | G | GAAAGAAG others(12): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0202 | 1 | 288 | 0.0035 | 19 | c.538 others(38): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128286640 | G | GATGATGT others(12): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0050 | a0001c0050t0001 | a0001c0050t0001g0208 | 1 | 236 | 0.0042 | 19 | c.701 others(34): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | TogoVar | ||||||
FBN3_chr19_8060402_8154592 | 8086129 | T | TGGGGGGG others(12): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0025 | a0025c0061 | a0025c0061t0002 | a0025c0061t0002g0299 | 1 | 380 | 0.0026 | 19 | c.688 others(34): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 55/63 | chr19 | TogoVar | ||||||
FBN3_chr19_8060402_8154592 | 8136802 | T | TCCCTCCA others(12): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0014 | a0014c0012 | a0014c0012t0001 | a0014c0012t0001g0260 | 1 | 380 | 0.0026 | 19 | c.120 others(36): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 10/63 | chr19 | TogoVar | ||||||
FBP2_chr9_94553720_94598824 | 94579050 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00741.hp2 HG02965.hp1 others(11): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0002 | a0001c0001t0001g0023a0001c0001t0001g0026a0001c0001t0001g0242others(9): Show | 14 | 380 | 0.0368 | 19 | c.426 others(36): Show |
FBP2 | ENSG00000130957.5 | transcript | ENST00000375337.4 | protein_coding | 3/6 | chr9 | TogoVar | ||||||
FBRSL1_chr12_132485151_132590188 | 132578367 | A | ACACACAC others(12): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0014 | a0014c0038 | a0014c0038t0002 | a0014c0038t0002g0345 | 1 | 348 | 0.0029 | 19 | c.183 others(38): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 15/18 | chr12 | TogoVar |