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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FARP1_chr13_98138094_98460176 | 98151660 | C | CTTTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00741.hp1 others(19): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(11): Show | a0001c0001t0004g0123a0001c0001t0004g0128a0001c0001t0004g0129others(19): Show | 22 | 218 | 0.1009 | 7 | c.-24 others(24): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
FARP1_chr13_98138094_98460176 | 98232144 | G | GTTTTTTT | intron_variant | MODIFIER | HG00741.hp1 HG02080.hp2 HG02109.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0001t0005a0001c0001t0020others(6): Show | a0001c0001t0004g0145a0001c0001t0005g0041a0001c0001t0020g0004others(7): Show | 10 | 218 | 0.0459 | 7 | c.171 others(26): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 2/26 | chr13 | TogoVar | ||||||
FARP1_chr13_98138094_98460176 | 98312135 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG01099.hp2 HG01109.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0002g0043a0001c0001t0004g0179a0001c0001t0005g0041others(14): Show | 17 | 218 | 0.0780 | 7 | c.172 others(26): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
FARP1_chr13_98138094_98460176 | 98397919 | A | AAAGAAAG | intron_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG00621.hp2 others(64): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(38): Show | a0001c0001t0002g0027a0001c0001t0002g0035a0001c0001t0002g0039others(64): Show | 67 | 218 | 0.3073 | 7 | c.141 others(26): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 13/26 | chr13 | TogoVar | ||||||
FARP2_chr2_241351285_241499841 | 241487746 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(134): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0004a0001c0001t0001g0064a0001c0001t0001g0065others(134): Show | 137 | 378 | 0.3624 | 7 | c.242 others(26): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
FARS2_chr6_5256513_5776583 | 5365317 | C | CTTTTTTT | intron_variant | MODIFIER | HG02486.hp1 HG02809.hp1 HG02809.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0002g0099others(2): Show | 5 | 170 | 0.0294 | 7 | c.-21 others(24): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FARS2_chr6_5256513_5776583 | 5456730 | C | CAAAAAAA | intron_variant | MODIFIER | HG01243.hp2 HG01257.hp2 HG04199.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0153a0001c0001t0002g0170a0002c0002t0001g0022others(2): Show | 5 | 170 | 0.0294 | 7 | c.904 others(26): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FARS2_chr6_5256513_5776583 | 5694843 | C | CAAAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG01081.hp2 HG02055.hp1 others(9): Show |
a0001a0004 | a0001c0001a0004c0011 | a0001c0001t0001a0001c0001t0002a0004c0011t0001 | a0001c0001t0001g0004a0001c0001t0001g0017a0001c0001t0001g0082others(9): Show | 12 | 170 | 0.0706 | 7 | c.121 others(28): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FARSA_chr19_12917479_12938711 | 12920125 | A | ACACACAC | downstream_gene_variant | MODIFIER | HG01934.hp2 HG02451.hp2 HG03209.hp2 others(2): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0007t0001 | a0001c0001t0001g0001a0001c0001t0001g0040a0001c0001t0002g0095others(2): Show | 5 | 346 | 0.0145 | 7 | c.*26 others(18): Show |
FARSA | ENSG00000179115.11 | transcript | ENST00000314606.9 | protein_coding | 2353 | chr19 | TogoVar | ||||||
FASN_chr17_82073338_82103236 | 82095675 | A | ACAAGCCC | intron_variant | MODIFIER | HG02615.hp2 HG02896.hp1 HG02965.hp2 others(6): Show |
a0001a0005 | a0001c0002a0001c0078a0001c0090others(3): Show | a0001c0002t0001a0001c0078t0001a0001c0090t0001others(3): Show | a0001c0002t0001g0047a0001c0002t0001g0244a0001c0078t0001g0243others(4): Show | 9 | 420 | 0.0214 | 7 | c.128 others(22): Show |
FASN | ENSG00000169710.9 | transcript | ENST00000306749.4 | protein_coding | 2/42 | chr17 | TogoVar | ||||||
FASTKD1_chr2_169523508_169578865 | 169547884 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp2 HG00639.hp1 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007 | a0001c0001t0001g0007a0001c0001t0001g0122a0001c0001t0001g0123others(36): Show | 40 | 392 | 0.1020 | 7 | c.121 others(26): Show |
FASTKD1 | ENSG00000138399.18 | transcript | ENST00000453153.7 | protein_coding | 7/14 | chr2 | TogoVar | ||||||
FASTKD1_chr2_169523508_169578865 | 169553271 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG00642.hp1 HG00735.hp2 others(26): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0004 | a0001c0001t0001a0001c0001t0004a0001c0006t0001others(1): Show | a0001c0001t0001g0091a0001c0001t0001g0159a0001c0001t0001g0161others(26): Show | 29 | 392 | 0.0740 | 7 | c.121 others(26): Show |
FASTKD1 | ENSG00000138399.18 | transcript | ENST00000453153.7 | protein_coding | 7/14 | chr2 | TogoVar | ||||||
FASTKD2_chr2_206760606_206801189 | 206793220 | C | CAAAAAAA | 3_prime_UTR_variant | MODIFIER | HG02109.hp1 HG03471.hp1 HG03579.hp1 others(3): Show |
a0002a0003 | a0002c0002a0002c0007a0003c0003 | a0002c0002t0023a0002c0002t0062a0002c0007t0060others(1): Show | a0002c0002t0023g0011a0002c0002t0023g0027a0002c0002t0062g0062others(2): Show | 6 | 394 | 0.0152 | 7 | c.*14 others(18): Show |
FASTKD2 | ENSG00000118246.14 | transcript | ENST00000402774.8 | protein_coding | 12/12 | 1450 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
FAS_chr10_88985798_89022059 | 89009721 | A | ACAGTTGT | intron_variant | MODIFIER | HG00099.hp1 HG01099.hp1 HG01192.hp1 others(16): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0004a0001c0005t0004 | a0001c0003t0004g0010a0001c0003t0004g0067a0001c0003t0004g0077others(7): Show | 19 | 396 | 0.0480 | 7 | c.443 others(22): Show |
FAS | ENSG00000026103.25 | transcript | ENST00000652046.1 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
FAT1_chr4_186582794_186728856 | 186610634 | T | TAAATATA | intron_variant | MODIFIER | HG02145.hp1 HG02486.hp1 HG02630.hp1 others(10): Show |
a0009a0025a0035others(8): Show | a0009c0056a0025c0022a0035c0040others(8): Show | a0009c0056t0006a0025c0022t0029a0035c0040t0005others(9): Show | a0009c0056t0006g0066a0009c0056t0006g0072a0025c0022t0029g0093others(10): Show | 13 | 338 | 0.0385 | 7 | c.985 others(24): Show |
FAT1 | ENSG00000083857.15 | transcript | ENST00000441802.7 | protein_coding | 14/26 | chr4 | TogoVar | ||||||
FAT1_chr4_186582794_186728856 | 186724183 | T | TAAAAAAA | upstream_gene_variant | MODIFIER | HG00733.hp1 HG01081.hp1 HG01981.hp1 others(9): Show |
a0005a0007a0008others(9): Show | a0005c0152a0007c0009a0008c0156others(9): Show | a0005c0152t0006a0007c0009t0003a0008c0156t0011others(9): Show | a0005c0152t0006g0026a0007c0009t0003g0007a0008c0156t0011g0017others(9): Show | 12 | 338 | 0.0355 | 7 | c.-54 others(16): Show |
FAT1 | ENSG00000083857.15 | transcript | ENST00000441802.7 | protein_coding | 328 | chr4 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92412402 | A | ATTTTTTT | intron_variant | MODIFIER | HG00673.hp2 HG01069.hp2 HG01169.hp2 others(13): Show |
a0001a0002a0004others(6): Show | a0001c0002a0001c0005a0002c0003others(8): Show | a0001c0002t0078a0001c0002t0079a0001c0002t0080others(13): Show | a0001c0002t0078g0009a0001c0002t0079g0003a0001c0002t0080g0011others(13): Show | 16 | 118 | 0.1356 | 7 | c.329 others(28): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
FAT3_chr11_92219818_92901473 | 92478947 | T | TTCTTTTC | intron_variant | MODIFIER | HG02109.hp1 HG03209.hp2 NA18906.hp2 |
a0003a0017a0048 | a0003c0020a0017c0080a0048c0069 | a0003c0020t0086a0017c0080t0043a0048c0069t0046 | a0003c0020t0086g0017a0017c0080t0043g0084a0048c0069t0046g0056 | 3 | 118 | 0.0254 | 7 | c.329 others(28): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 2/27 | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92486130 | G | GTTTTTTT | intron_variant | MODIFIER | HG00741.hp1 HG02004.hp2 HG02615.hp2 others(6): Show |
a0001a0003a0004others(3): Show | a0001c0005a0001c0025a0003c0011others(4): Show | a0001c0005t0018a0001c0025t0011a0003c0011t0005others(4): Show | a0001c0005t0018g0088a0001c0025t0011g0076a0003c0011t0005g0053others(6): Show | 9 | 118 | 0.0763 | 7 | c.329 others(28): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
FAT3_chr11_92219818_92901473 | 92513121 | C | CAAAAAAA | intron_variant | MODIFIER | HG02559.hp2 HG03041.hp1 HG03139.hp2 others(1): Show |
a0002a0020a0032others(1): Show | a0002c0029a0020c0016a0032c0027others(1): Show | a0002c0029t0023a0020c0016t0031a0032c0027t0021others(1): Show | a0002c0029t0023g0051a0020c0016t0031g0036a0032c0027t0021g0075others(1): Show | 4 | 118 | 0.0339 | 7 | c.329 others(28): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
FAT4_chr4_125309955_125497932 | 125471895 | C | CAAAAAAA | intron_variant | MODIFIER | HG01978.hp1 HG02135.hp2 HG02451.hp1 others(3): Show |
a0001a0008a0010 | a0001c0002a0001c0011a0001c0089others(2): Show | a0001c0002t0001a0001c0011t0001a0001c0089t0001others(2): Show | a0001c0002t0001g0138a0001c0002t0001g0162a0001c0011t0001g0170others(3): Show | 6 | 320 | 0.0188 | 7 | c.122 others(28): Show |
FAT4 | ENSG00000196159.14 | transcript | ENST00000394329.9 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
FAT4_chr4_125309955_125497932 | 125489847 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00558.hp1 others(45): Show |
a0001a0002a0003others(12): Show | a0001c0002a0001c0011a0001c0063others(28): Show | a0001c0002t0001a0001c0011t0001a0001c0063t0001others(28): Show | a0001c0002t0001g0135a0001c0002t0001g0138a0001c0011t0001g0173others(45): Show | 48 | 320 | 0.1500 | 7 | c.130 others(24): Show |
FAT4 | ENSG00000196159.14 | transcript | ENST00000394329.9 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
FAXC_chr6_99266168_99354674 | 99272191 | T | TGTGTGTG | 3_prime_UTR_variant | MODIFIER | HG00673.hp2 HG02145.hp2 NA19091.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0049a0001c0001t0059 | a0001c0001t0049g0103a0001c0001t0049g0174a0001c0001t0059g0242others(1): Show | 4 | 398 | 0.0101 | 7 | c.*89 others(18): Show |
FAXC | ENSG00000146267.12 | transcript | ENST00000389677.6 | protein_coding | 6/6 | 8972 | chr6 | TogoVar | |||||
FAXC_chr6_99266168_99354674 | 99343260 | T | TATTACCA | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00642.hp1 others(97): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(34): Show | a0001c0001t0002g0001a0001c0001t0002g0013a0001c0001t0002g0208others(92): Show | 100 | 398 | 0.2513 | 7 | c.267 others(22): Show |
FAXC | ENSG00000146267.12 | transcript | ENST00000389677.6 | protein_coding | 1/5 | chr6 | TogoVar | ||||||
FBLIM1_chr1_15753795_15791589 | 15787963 | A | AAAAATAT | downstream_gene_variant | MODIFIER | HG00639.hp2 HG02300.hp1 HG03942.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0022 | a0001c0001t0003g0003a0001c0001t0003g0030a0001c0001t0003g0031others(3): Show | 8 | 354 | 0.0226 | 7 | c.*33 others(18): Show |
FBLIM1 | ENSG00000162458.13 | transcript | ENST00000375766.8 | protein_coding | 1375 | chr1 | TogoVar | ||||||
FBLL1_chr5_168524305_168535634 | 168524977 | T | TATATATA | upstream_gene_variant | MODIFIER | HG02896.hp1 HG02976.hp1 HG03017.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0002 | a0001c0001t0003g0000a0002c0002t0002g0000 | 5 | 460 | 0.0109 | 7 | c.-45 others(18): Show |
FBLL1 | ENSG00000188573.8 | transcript | ENST00000338333.5 | protein_coding | 4327 | chr5 | TogoVar | ||||||
FBLN1_chr22_45497883_45606135 | 45602817 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG02071.hp1 HG02698.hp1 HG04199.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0021 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(2): Show | a0001c0001t0001g0076a0001c0001t0002g0094a0001c0001t0011g0015others(3): Show | 6 | 346 | 0.0173 | 7 | c.*23 others(18): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1683 | chr22 | TogoVar | ||||||
FBLN2_chr3_13544125_13643404 | 13612294 | C | CTTTCTTT | intron_variant | MODIFIER | HG00423.hp1 HG01168.hp1 HG01169.hp2 others(3): Show |
a0003a0005a0011others(1): Show | a0003c0024a0005c0008a0005c0048others(2): Show | a0003c0024t0001a0005c0008t0004a0005c0048t0004others(2): Show | a0003c0024t0001g0091a0005c0008t0004g0274a0005c0048t0004g0197others(3): Show | 6 | 312 | 0.0192 | 7 | c.154 others(26): Show |
FBLN2 | ENSG00000163520.14 | transcript | ENST00000404922.8 | protein_coding | 4/17 | chr3 | TogoVar | ||||||
FBLN5_chr14_91864411_91952694 | 91883645 | T | TAAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(81): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0032a0001c0001t0001g0036a0001c0001t0001g0039others(81): Show | 84 | 360 | 0.2333 | 7 | c.740 others(22): Show |
FBLN5 | ENSG00000140092.16 | transcript | ENST00000342058.9 | protein_coding | 7/10 | chr14 | TogoVar | ||||||
FBLN5_chr14_91864411_91952694 | 91919377 | A | AAAGAAAG | intron_variant | MODIFIER | HG00140.hp2 HG01106.hp1 HG01192.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0212a0001c0001t0001g0233a0001c0001t0001g0234others(3): Show | 6 | 360 | 0.0167 | 7 | c.379 others(26): Show |
FBLN5 | ENSG00000140092.16 | transcript | ENST00000342058.9 | protein_coding | 4/10 | chr14 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128455990 | C | CAAAAAAA | intron_variant | MODIFIER | HG01258.hp2 HG01361.hp2 HG01884.hp2 others(8): Show |
a0001a0003a0008others(1): Show | a0001c0001a0001c0028a0001c0036others(5): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0013others(8): Show | a0001c0001t0002g0071a0001c0001t0005g0087a0001c0001t0013g0110others(8): Show | 11 | 236 | 0.0466 | 7 | c.826 others(24): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128539846 | T | TATATATC | upstream_gene_variant | MODIFIER | HG01496.hp2 HG02273.hp1 HG02647.hp1 others(5): Show |
a0001a0002a0003 | a0001c0009a0002c0041a0003c0006others(1): Show | a0001c0009t0006a0002c0041t0011a0003c0006t0004others(1): Show | a0001c0009t0006g0028a0002c0041t0011g0029a0003c0006t0004g0046others(5): Show | 8 | 236 | 0.0339 | 7 | c.-22 others(18): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1602 | chr5 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128539862 | T | TATATATC | upstream_gene_variant | MODIFIER | HG02055.hp2 HG03239.hp2 HG03831.hp2 |
a0001a0003 | a0001c0009a0003c0006a0003c0044 | a0001c0009t0002a0003c0006t0004a0003c0044t0004 | a0001c0009t0002g0049a0003c0006t0004g0042a0003c0044t0004g0053 | 3 | 236 | 0.0127 | 7 | c.-22 others(18): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1618 | chr5 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128539878 | G | GATAGATC | upstream_gene_variant | MODIFIER | HG02818.hp1 HG02896.hp2 |
a0003 | a0003c0010a0003c0065 | a0003c0010t0008a0003c0065t0011 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | 236 | 0.0085 | 7 | c.-22 others(18): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1634 | chr5 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128539924 | T | TATATATC | upstream_gene_variant | MODIFIER | HG02145.hp2 NA18964.hp2 NA19079.hp1 others(1): Show |
a0001a0003 | a0001c0028a0003c0006 | a0001c0028t0002a0003c0006t0004 | a0001c0028t0002g0022a0003c0006t0004g0046a0003c0006t0004g0048others(1): Show | 4 | 236 | 0.0170 | 7 | c.-23 others(18): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1680 | chr5 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128539949 | T | TATATATC | upstream_gene_variant | MODIFIER | HG00140.hp1 HG01192.hp1 HG01256.hp1 others(5): Show |
a0001a0003a0006 | a0001c0003a0003c0004a0003c0012others(2): Show | a0001c0003t0001a0003c0004t0001a0003c0004t0036others(3): Show | a0001c0003t0001g0136a0003c0004t0001g0124a0003c0004t0001g0129others(5): Show | 8 | 236 | 0.0339 | 7 | c.-23 others(18): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1705 | chr5 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128539953 | T | TATGATAG | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01074.hp1 HG01081.hp1 others(23): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0021others(11): Show | a0001c0001t0003a0001c0001t0005a0001c0003t0017others(15): Show | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0013others(23): Show | 26 | 236 | 0.1102 | 7 | c.-23 others(18): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1709 | chr5 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128539992 | T | TATATATC | upstream_gene_variant | MODIFIER | HG02559.hp1 HG02895.hp1 |
a0003a0019 | a0003c0007a0019c0046 | a0003c0007t0005a0019c0046t0010 | a0003c0007t0005g0052a0019c0046t0010g0027 | 2 | 236 | 0.0085 | 7 | c.-23 others(18): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1748 | chr5 | TogoVar | ||||||
FBN3_chr19_8060402_8154592 | 8130628 | G | GGAAAGGA | intron_variant | MODIFIER | HG00597.hp1 NA18959.hp2 NA19054.hp1 others(1): Show |
a0002a0006a0026 | a0002c0001a0006c0017a0026c0019 | a0002c0001t0001a0006c0017t0001a0026c0019t0001 | a0002c0001t0001g0307a0002c0001t0001g0314a0006c0017t0001g0174others(1): Show | 4 | 380 | 0.0105 | 7 | c.204 others(24): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 16/63 | chr19 | TogoVar | ||||||
FBN3_chr19_8060402_8154592 | 8130636 | G | GGAAAGGA | intron_variant | MODIFIER | HG00423.hp1 HG01943.hp2 HG01993.hp1 others(4): Show |
a0002a0015a0053others(2): Show | a0002c0001a0002c0086a0015c0051others(4): Show | a0002c0001t0001a0002c0086t0001a0015c0051t0001others(4): Show | a0002c0001t0001g0325a0002c0086t0001g0248a0015c0051t0001g0164others(4): Show | 7 | 380 | 0.0184 | 7 | c.204 others(24): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 16/63 | chr19 | TogoVar | ||||||
FBP2_chr9_94553720_94598824 | 94561352 | A | ATTTTTTT | intron_variant | MODIFIER | HG02895.hp2 HG02922.hp2 HG03579.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0002a0001c0002t0002a0001c0006t0002others(1): Show | a0001c0001t0002g0061a0001c0002t0002g0076a0001c0006t0002g0047others(2): Show | 6 | 380 | 0.0158 | 7 | c.825 others(24): Show |
FBP2 | ENSG00000130957.5 | transcript | ENST00000375337.4 | protein_coding | 6/6 | chr9 | TogoVar | ||||||
FBP2_chr9_94553720_94598824 | 94565793 | A | AGATAGAT | intron_variant | MODIFIER | HG02622.hp2 HG02886.hp2 HG03041.hp2 others(2): Show |
a0001 | a0001c0009a0001c0010 | a0001c0009t0002a0001c0010t0005 | a0001c0009t0002g0141a0001c0009t0002g0161a0001c0009t0002g0162others(2): Show | 5 | 380 | 0.0132 | 7 | c.705 others(24): Show |
FBP2 | ENSG00000130957.5 | transcript | ENST00000375337.4 | protein_coding | 5/6 | chr9 | TogoVar | ||||||
FBP2_chr9_94553720_94598824 | 94579050 | C | CAAAAAAA | intron_variant | MODIFIER | HG01099.hp1 HG01361.hp1 HG01361.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0003others(2): Show | a0001c0001t0001g0137a0001c0001t0001g0139a0001c0001t0001g0226others(13): Show | 16 | 380 | 0.0421 | 7 | c.426 others(24): Show |
FBP2 | ENSG00000130957.5 | transcript | ENST00000375337.4 | protein_coding | 3/6 | chr9 | TogoVar | ||||||
FBXL12_chr19_9805270_9824079 | 9823269 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02145.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0014others(7): Show | 19 | 338 | 0.0562 | 7 | c.-44 others(18): Show |
FBXL12 | ENSG00000127452.9 | transcript | ENST00000247977.9 | protein_coding | 4191 | chr19 | TogoVar | ||||||
FBXL13_chr7_102806189_103079796 | 102834082 | A | AAGGAAGG | intron_variant | MODIFIER | HG01167.hp1 HG03490.hp1 HG03492.hp2 others(7): Show |
a0001 | a0001c0002a0001c0009 | a0001c0002t0001a0001c0002t0006a0001c0009t0001 | a0001c0002t0001g0012a0001c0002t0001g0270a0001c0002t0001g0271others(7): Show | 10 | 328 | 0.0305 | 7 | c.199 others(26): Show |
FBXL13 | ENSG00000161040.19 | transcript | ENST00000440067.4 | protein_coding | 18/20 | chr7 | TogoVar | ||||||
FBXL13_chr7_102806189_103079796 | 102861982 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(94): Show |
a0001a0002a0003others(3): Show | a0001c0002a0002c0003a0002c0010others(4): Show | a0001c0002t0001a0001c0002t0006a0002c0003t0001others(9): Show | a0001c0002t0001g0001a0001c0002t0001g0086a0001c0002t0001g0224others(94): Show | 97 | 328 | 0.2957 | 7 | c.190 others(26): Show |
FBXL13 | ENSG00000161040.19 | transcript | ENST00000440067.4 | protein_coding | 17/20 | chr7 | TogoVar | ||||||
FBXL13_chr7_102806189_103079796 | 102903939 | C | CTTTTCTT | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG00621.hp2 others(31): Show |
a0001a0002a0003others(4): Show | a0001c0002a0002c0003a0002c0010others(5): Show | a0001c0002t0001a0002c0003t0001a0002c0003t0004others(6): Show | a0001c0002t0001g0298a0002c0003t0001g0232a0002c0003t0001g0268others(31): Show | 34 | 328 | 0.1037 | 7 | c.127 others(26): Show |
FBXL13 | ENSG00000161040.19 | transcript | ENST00000440067.4 | protein_coding | 12/20 | chr7 | TogoVar | ||||||
FBXL13_chr7_102806189_103079796 | 102964404 | A | ATATATAT | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00609.hp1 others(11): Show |
a0001a0004a0006 | a0001c0002a0004c0005a0006c0007 | a0001c0002t0016a0004c0005t0001a0006c0007t0001 | a0001c0002t0016g0131a0004c0005t0001g0146a0004c0005t0001g0155others(11): Show | 14 | 328 | 0.0427 | 7 | c.862 others(22): Show |
FBXL13 | ENSG00000161040.19 | transcript | ENST00000440067.4 | protein_coding | 8/20 | chr7 | TogoVar | ||||||
FBXL13_chr7_102806189_103079796 | 102964405 | T | TATATATA | intron_variant | MODIFIER | HG00621.hp2 HG03579.hp1 NA18941.hp2 others(6): Show |
a0004a0010 | a0004c0005a0010c0017 | a0004c0005t0001a0010c0017t0011 | a0004c0005t0001g0153a0004c0005t0001g0163a0004c0005t0001g0170others(6): Show | 9 | 328 | 0.0274 | 7 | c.862 others(22): Show |
FBXL13 | ENSG00000161040.19 | transcript | ENST00000440067.4 | protein_coding | 8/20 | chr7 | TogoVar | ||||||
FBXL13_chr7_102806189_103079796 | 103024135 | A | AGAGAGAG | intron_variant | MODIFIER | HG01175.hp1 HG01517.hp1 NA20300.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0025a0001c0001t0001g0107a0001c0006t0001g0066 | 3 | 328 | 0.0092 | 7 | c.765 others(22): Show |
FBXL13 | ENSG00000161040.19 | transcript | ENST00000440067.4 | protein_coding | 7/20 | chr7 | TogoVar |