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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ERBB4_chr2_211370717_212543802 | 212320138 | GGGATGGA others(47): Show |
G | intron_variant | MODIFIER | HG02895.hp1 HG03225.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0019a0001c0001t0020 | a0001c0001t0011g0041 a0001c0001t0019g0002 a0001c0001t0020g0028 |
3 | 56 | 0.0536 | -54 | c.83- others(73): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERC1_chr12_986223_1500931 | 1093913 | CTATATAT others(47): Show |
C | intron_variant | MODIFIER | HG01952.hp2 HG02055.hp2 HG02886.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0057a0002c0002t0002 | a0001c0001t0057g0156 a0002c0002t0002g0087 a0002c0002t0002g0089 others(2): Show |
5 | 162 | 0.0309 | -54 | c.108 others(75): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1122223 | ATCTCTAT others(47): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG03195.hp1 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0013t0063 | a0001c0001t0001g0076 a0001c0013t0063g0077 |
2 | 162 | 0.0124 | -54 | c.156 others(73): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERFL_chr19_41902704_41933449 | 41914602 | GTCTCTCC others(47): Show |
G | intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 330 | 0.0030 | -54 | c.-13 others(71): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ERGIC1_chr5_172829251_172957683 | 172923203 | AGGAGGAG others(47): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0292 | 1 | 334 | 0.0030 | -54 | c.376 others(69): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERG_chr21_38375036_38503477 | 38429544 | TATGTGTA others(47): Show |
T | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 | 1 | 360 | 0.0028 | -54 | c.237 others(71): Show |
ERG | ENSG00000157554.20 | transcript | ENST00000288319.12 | protein_coding | 2/9 | chr21 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 675150 | GCCCCTCG others(47): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG03491.hp2 NA20752.hp1 |
a0001a0013 | a0001c0001a0013c0012 | a0001c0001t0001a0013c0012t0002 | a0001c0001t0001g0211 a0001c0001t0001g0212 a0013c0012t0002g0245 |
3 | 378 | 0.0079 | -54 | c.305 others(71): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 675321 | GTGAGGAC others(47): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG01099.hp2 HG01256.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005 a0001c0002t0001g0102 a0001c0002t0001g0113 |
4 | 378 | 0.0106 | -54 | c.305 others(71): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 675910 | ACGCGGCG others(47): Show |
A | intron_variant | MODIFIER | HG03471.hp2 HG03486.hp2 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0248 a0001c0001t0002g0276 a0001c0001t0002g0315 |
3 | 378 | 0.0079 | -54 | c.305 others(71): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 675950 | TCGTGAGG others(47): Show |
T | intron_variant | MODIFIER | HG01258.hp2 HG01891.hp2 HG03098.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0242 others(1): Show |
5 | 378 | 0.0132 | -54 | c.305 others(71): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 676357 | GCCCCTCG others(47): Show |
G | intron_variant | MODIFIER | HG01168.hp1 HG02055.hp2 HG02683.hp1 others(5): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0001t0002a0001c0015t0001 | a0001c0001t0001g0216 a0001c0001t0002g0257 a0001c0001t0002g0259 others(5): Show |
8 | 378 | 0.0212 | -54 | c.305 others(71): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 699784 | CGCGCACA others(47): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00639.hp1 others(40): Show |
a0001a0002a0007 | a0001c0001a0001c0015a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0015t0001others(2): Show | a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0193 others(39): Show |
43 | 378 | 0.1138 | -54 | c.170 others(71): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ERICH5_chr8_98059568_98098609 | 98073432 | CTATATAT others(47): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp1 NA19030.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0001 | a0001c0001t0002g0239 a0001c0001t0002g0358 a0003c0003t0001g0075 |
3 | 442 | 0.0068 | -54 | c.58+ others(69): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ERICH5_chr8_98059568_98098609 | 98073462 | ATATATAT others(47): Show |
A | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 442 | 0.0023 | -54 | c.58+ others(69): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ERO1B_chr1_236210101_236286958 | 236245472 | ATATATAT others(47): Show |
A | intron_variant | MODIFIER | HG03669.hp2 | a0002 | a0002c0002 | a0002c0002t0066 | a0002c0002t0066g0215 | 1 | 396 | 0.0025 | -54 | c.432 others(71): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 5/15 | chr1 | TogoVar | |||||||
ERP44_chr9_99974185_100104000 | 100100638 | TTATATAT others(47): Show |
T | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01975.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 a0001c0001t0001g0148 |
2 | 220 | 0.0091 | -54 | c.-18 others(65): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 1639 | chr9 | TogoVar | |||||||
ESPNL_chr2_238095340_238138287 | 238105085 | CTCCTAGT others(47): Show |
C | intron_variant | MODIFIER | HG00323.hp2 | a0003 | a0003c0120 | a0003c0120t0001 | a0003c0120t0001g0280 | 1 | 408 | 0.0025 | -54 | c.672 others(69): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ESPNL_chr2_238095340_238138287 | 238118540 | ATGGATGG others(47): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00621.hp2 others(47): Show |
a0001a0002a0003others(10): Show | a0001c0012a0001c0016a0002c0057others(20): Show | a0001c0012t0003a0001c0012t0006a0001c0016t0004others(23): Show | a0001c0012t0003g0017 a0001c0012t0003g0045 a0001c0012t0003g0046 others(42): Show |
50 | 408 | 0.1226 | -54 | c.987 others(71): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ETNPPL_chr4_108737053_108768053 | 108747140 | ATATATAT others(47): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG02109.hp2 HG03098.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0129 a0001c0001t0001g0182 a0001c0001t0001g0207 others(1): Show |
5 | 378 | 0.0132 | -54 | c.108 others(71): Show |
ETNPPL | ENSG00000164089.9 | transcript | ENST00000296486.8 | protein_coding | 9/12 | chr4 | TogoVar | |||||||
ETS1_chr11_128453765_128592558 | 128584978 | GAAAGAAA others(47): Show |
G | intron_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0110 | 1 | 286 | 0.0035 | -54 | c.-15 others(71): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
EXOC3_chr5_438176_472290 | 443202 | AGGCAGCG others(47): Show |
A | 5_prime_UTR_variant | MODIFIER | HG01081.hp2 HG01175.hp1 |
a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0005 a0001c0002t0021g0098 |
2 | 418 | 0.0048 | -54 | c.-14 others(62): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 1/13 | 2947 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
EXOC4_chr7_133248078_134070761 | 133857247 | ATATATAT others(47): Show |
A | intron_variant | MODIFIER | HG02717.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0004 | a0001c0001t0003g0004 a0001c0004t0004g0082 |
2 | 102 | 0.0196 | -54 | c.173 others(75): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133857301 | GTATATAT others(47): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 NA19010.hp2 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0009 a0001c0004t0001g0041 a0001c0004t0001g0072 others(1): Show |
4 | 102 | 0.0392 | -54 | c.173 others(75): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 47156111 | CACACACA others(47): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02572.hp2 HG03098.hp2 others(4): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0007 | a0001c0001t0001a0001c0003t0001a0005c0007t0001 | a0001c0001t0001g0008 a0001c0001t0001g0037 a0001c0001t0001g0105 others(4): Show |
7 | 238 | 0.0294 | -54 | c.978 others(73): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 47156113 | CACACACA others(47): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02647.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0034 a0001c0001t0001g0104 a0001c0001t0001g0155 others(7): Show |
10 | 238 | 0.0420 | -54 | c.978 others(73): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EZH2_chr7_148802383_148889291 | 148866502 | GTATATAC others(47): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(77): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(2): Show | a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 others(77): Show |
80 | 380 | 0.2105 | -54 | c.-8+ others(71): Show |
EZH2 | ENSG00000106462.12 | transcript | ENST00000320356.7 | protein_coding | 1/19 | chr7 | TogoVar | |||||||
EZR_chr6_158760748_158824368 | 158803528 | TATATATA others(47): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG01934.hp2 HG02486.hp2 others(16): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0024a0004c0009t0001 | a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0058 others(15): Show |
19 | 312 | 0.0609 | -54 | c.13- others(71): Show |
EZR | ENSG00000092820.19 | transcript | ENST00000367075.4 | protein_coding | 2/13 | chr6 | TogoVar | |||||||
FADS6_chr17_74872302_74898633 | 74893524 | GGGCTCCG others(47): Show |
G | disruptive_inframe_deletion | MODERATE | HG00735.hp2 HG01069.hp2 HG01071.hp2 others(47): Show |
a0003 | a0003c0003a0003c0005a0003c0012others(3): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(9): Show | a0003c0003t0001g0001 a0003c0003t0001g0045 a0003c0003t0001g0047 others(35): Show |
50 | 440 | 0.1136 | -54 | c.18_ others(59): Show |
p.Met others(10): Show |
FADS6 | ENSG00000172782.13 | transcript | ENST00000612771.5 | protein_coding | 1/6 | 109/2174 | 18/1107 | 6/368 | chr17 | TogoVar | |||
FAM149A_chr4_186099704_186180337 | 186136936 | ATCTCTCT others(47): Show |
A | intron_variant | MODIFIER | NA18946.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0150 | 1 | 390 | 0.0026 | -54 | c.567 others(73): Show |
FAM149A | ENSG00000109794.14 | transcript | ENST00000706927.1 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FAM174B_chr15_92612448_92660775 | 92631316 | AATATTAT others(47): Show |
A | intron_variant | MODIFIER | NA18973.hp1 NA19007.hp2 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007 | a0001c0001t0002g0146 a0001c0001t0003g0139 a0001c0001t0007g0145 |
3 | 394 | 0.0076 | -54 | c.345 others(70): Show |
FAM174B | ENSG00000185442.13 | transcript | ENST00000327355.6 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
FAM20A_chr17_68530116_68606367 | 68571939 | AATATATA others(47): Show |
A | intron_variant | MODIFIER | HG04184.hp1 HG04199.hp2 NA18998.hp1 others(1): Show |
a0001a0002 | a0001c0004a0002c0008 | a0001c0004t0001a0001c0004t0002a0002c0008t0001 | a0001c0004t0001g0038 a0001c0004t0001g0042 a0001c0004t0002g0014 others(1): Show |
4 | 380 | 0.0105 | -54 | c.405 others(73): Show |
FAM20A | ENSG00000108950.12 | transcript | ENST00000592554.2 | protein_coding | 1/10 | chr17 | TogoVar | |||||||
FAM78A_chr9_131253078_131281510 | 131274814 | CTCTGGGA others(47): Show |
C | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0139 a0001c0001t0002g0140 |
2 | 418 | 0.0048 | -54 | c.323 others(70): Show |
FAM78A | ENSG00000126882.14 | transcript | ENST00000372271.4 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
FAM78B_chr1_166064299_166172001 | 166109828 | ATATGTAT others(47): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG02818.hp2 HG02886.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 others(1): Show |
4 | 318 | 0.0126 | -54 | c.264 others(73): Show |
FAM78B | ENSG00000188859.7 | transcript | ENST00000354422.4 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
FAM98A_chr2_33578660_33604299 | 33594652 | CACACATA others(47): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02717.hp1 |
a0001a0004 | a0001c0001a0004c0012 | a0001c0001t0001a0004c0012t0001 | a0001c0001t0001g0084 a0004c0012t0001g0085 |
2 | 406 | 0.0049 | -54 | c.202 others(69): Show |
FAM98A | ENSG00000119812.20 | transcript | ENST00000238823.13 | protein_coding | 2/7 | chr2 | TogoVar | |||||||
FAM9B_chrX_9019232_9039127 | 9021249 | ATATATTA others(47): Show |
A | downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0035 | 1 | 258 | 0.0039 | -54 | c.*41 others(65): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 2982 | chrX | TogoVar | |||||||
FAM9B_chrX_9019232_9039127 | 9021256 | ATATATAT others(47): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00423.hp1 others(85): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(15): Show |
88 | 258 | 0.3411 | -54 | c.*40 others(65): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 2975 | chrX | TogoVar | |||||||
FAM9B_chrX_9019232_9039127 | 9022101 | ACATTATG others(47): Show |
A | downstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 258 | 0.0039 | -54 | c.*32 others(65): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 2130 | chrX | TogoVar | |||||||
FAR2_chr12_29144278_29340616 | 29253226 | TATCTAGA others(47): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG02976.hp1 others(8): Show |
a0001a0005 | a0001c0001a0005c0011 | a0001c0001t0002a0001c0001t0009a0005c0011t0002 | a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0117 others(8): Show |
11 | 326 | 0.0337 | -54 | c.-38 others(73): Show |
FAR2 | ENSG00000064763.12 | transcript | ENST00000536681.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FBLN7_chr2_112133385_112193218 | 112139531 | TCAGCGTC others(47): Show |
T | intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 346 | 0.0029 | -54 | c.75+ others(67): Show |
FBLN7 | ENSG00000144152.13 | transcript | ENST00000331203.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FBLN7_chr2_112133385_112193218 | 112139697 | CGTCCCTC others(47): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG03041.hp1 HG03130.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0089 a0001c0001t0001g0178 a0001c0001t0001g0199 others(3): Show |
6 | 346 | 0.0173 | -54 | c.75+ others(69): Show |
FBLN7 | ENSG00000144152.13 | transcript | ENST00000331203.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FBLN7_chr2_112133385_112193218 | 112139962 | TGTCCCTC others(47): Show |
T | intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 346 | 0.0029 | -54 | c.75+ others(69): Show |
FBLN7 | ENSG00000144152.13 | transcript | ENST00000331203.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FBN1_chr15_48403313_48650709 | 48529838 | TTTATCCA others(47): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG02257.hp2 HG02280.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0020others(9): Show | a0001c0001t0001g0117 a0001c0001t0010g0225 a0001c0001t0020g0070 others(20): Show |
23 | 288 | 0.0799 | -54 | c.863 others(71): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | TogoVar | |||||||
FBN1_chr15_48403313_48650709 | 48530184 | CATCACAA others(47): Show |
C | intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 288 | 0.0035 | -54 | c.862 others(71): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | TogoVar | |||||||
FBRSL1_chr12_132485151_132590188 | 132562984 | ACCTGGCC others(47): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG02027.hp1 HG02040.hp2 others(17): Show |
a0001a0005a0006others(7): Show | a0001c0105a0005c0012a0006c0079others(7): Show | a0001c0105t0002a0005c0012t0005a0006c0079t0051others(10): Show | a0001c0105t0002g0344 a0005c0012t0005g0317 a0005c0012t0005g0322 others(17): Show |
20 | 348 | 0.0575 | -54 | c.646 others(71): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FBRSL1_chr12_132485151_132590188 | 132563011 | ACCTGGCC others(47): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02970.hp1 others(1): Show |
a0002a0006a0041others(1): Show | a0002c0003a0006c0104a0041c0066others(1): Show | a0002c0003t0004a0006c0104t0045a0041c0066t0009others(1): Show | a0002c0003t0004g0018 a0006c0104t0045g0073 a0041c0066t0009g0067 others(1): Show |
4 | 348 | 0.0115 | -54 | c.646 others(71): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FBXL7_chr5_15495180_15944793 | 15714477 | CTACACAA others(47): Show |
C | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 122 | 0.0082 | -54 | c.127 others(73): Show |
FBXL7 | ENSG00000183580.10 | transcript | ENST00000504595.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
FBXO34_chr14_55266421_55358611 | 55318333 | CATATATA others(47): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02615.hp1 others(4): Show |
a0004 | a0004c0004a0004c0012 | a0004c0004t0006a0004c0012t0006 | a0004c0004t0006g0324 a0004c0004t0006g0325 a0004c0004t0006g0326 others(4): Show |
7 | 334 | 0.0210 | -54 | c.-10 others(73): Show |
FBXO34 | ENSG00000178974.11 | transcript | ENST00000313833.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FDX1_chr11_110424948_110469884 | 110444651 | TATATATA others(47): Show |
T | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0205 | 1 | 400 | 0.0025 | -54 | c.310 others(71): Show |
FDX1 | ENSG00000137714.3 | transcript | ENST00000260270.3 | protein_coding | 2/3 | chr11 | TogoVar | |||||||
FDX1_chr11_110424948_110469884 | 110444652 | ATATATAT others(47): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG03041.hp2 HG03098.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 others(3): Show |
6 | 400 | 0.0150 | -54 | c.310 others(71): Show |
FDX1 | ENSG00000137714.3 | transcript | ENST00000260270.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FEM1B_chr15_68272745_68300862 | 68274625 | TGGCAAAA others(47): Show |
T | upstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0028 | a0001c0002t0028g0074 | 1 | 312 | 0.0032 | -54 | c.-37 others(65): Show |
FEM1B | ENSG00000169018.6 | transcript | ENST00000306917.5 | protein_coding | 3119 | chr15 | TogoVar |