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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EPHA6_chr3_96809594_97766532 | 96998066 | TTAACTTT others(24): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG02559.hp1 HG03130.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0019a0001c0002t0025 | a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0009 others(2): Show |
5 | 82 | 0.0610 | -31 | c.111 others(52): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EPHB1_chr3_134790260_135265467 | 134916628 | CTGGCGCG others(24): Show |
C | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0117 | 1 | 132 | 0.0076 | -31 | c.59- others(46): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
EPRS1_chr1_219963600_220051505 | 219964390 | TACGAGGG others(24): Show |
T | downstream_gene_variant | MODIFIER | HG01261.hp1 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 a0001c0001t0001g0199 |
2 | 356 | 0.0056 | -31 | c.*43 others(42): Show |
EPRS1 | ENSG00000136628.18 | transcript | ENST00000366923.8 | protein_coding | 4209 | chr1 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211622991 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG02717.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0023 | a0001c0001t0002g0024 a0001c0001t0003g0017 a0001c0001t0023g0012 |
3 | 48 | 0.0625 | -31 | c.220 others(48): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 18/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212015042 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | HG03516.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0011 | a0001c0001t0009g0023 a0001c0001t0011g0042 |
2 | 39 | 0.0513 | -31 | c.235 others(50): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 2/27 | chr2 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 55720212 | TTCTTCTT others(24): Show |
T | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0047 | 1 | 69 | 0.0145 | -31 | c.271 others(52): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 15/17 | chr3 | TogoVar | |||||||
ERI3_chr1_44216070_44360257 | 44279217 | AATAACAC others(24): Show |
A | intron_variant | MODIFIER | HG01071.hp2 HG01106.hp2 HG01256.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 a0001c0001t0001g0046 a0001c0001t0001g0069 others(2): Show |
5 | 338 | 0.0148 | -31 | c.831 others(48): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 7/8 | chr1 | TogoVar | |||||||
ERI3_chr1_44216070_44360257 | 44310910 | GTCTCTCT others(24): Show |
G | intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0328 | 1 | 338 | 0.0030 | -31 | c.666 others(48): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
ERI3_chr1_44216070_44360257 | 44342827 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 322 | 0.0031 | -31 | c.212 others(48): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
ERICH5_chr8_98059568_98098609 | 98087441 | AGGGAAAA others(24): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp2 HG02486.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0059 others(4): Show |
7 | 440 | 0.0159 | -31 | c.59- others(46): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ERICH6B_chr13_45536294_45620739 | 45606523 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0287 | 1 | 324 | 0.0031 | -31 | c.-59 others(48): Show |
ERICH6B | ENSG00000165837.12 | transcript | ENST00000298738.3 | protein_coding | 2/14 | chr13 | TogoVar | |||||||
ERICH6_chr3_150654885_150708920 | 150707813 | GTTAACCA others(24): Show |
G | upstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 346 | 0.0029 | -31 | c.-39 others(42): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 3894 | chr3 | TogoVar | |||||||
ESPNL_chr2_238095340_238138287 | 238096600 | GTGCAGCC others(24): Show |
G | upstream_gene_variant | MODIFIER | HG01257.hp2 | a0022 | a0022c0130 | a0022c0130t0002 | a0022c0130t0002g0316 | 1 | 406 | 0.0025 | -31 | c.-38 others(42): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 3739 | chr2 | TogoVar | |||||||
ETNPPL_chr4_108737053_108768053 | 108757811 | ATGTAACC others(24): Show |
A | intron_variant | MODIFIER | HG02015.hp2 HG02723.hp1 HG02976.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0237 others(1): Show |
4 | 376 | 0.0106 | -31 | c.336 others(48): Show |
ETNPPL | ENSG00000164089.9 | transcript | ENST00000296486.8 | protein_coding | 3/12 | chr4 | TogoVar | |||||||
ETV6_chr12_11644674_11900377 | 11859118 | GGTTTTTT others(24): Show |
G | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 18 | 0.0556 | -31 | c.463 others(48): Show |
ETV6 | ENSG00000139083.11 | transcript | ENST00000396373.9 | protein_coding | 4/7 | chr12 | TogoVar | |||||||
EXOC4_chr7_133248078_134070761 | 133670541 | TGTCAGGG others(24): Show |
T | intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0053 | 1 | 100 | 0.0100 | -31 | c.151 others(52): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 10/17 | chr7 | TogoVar | |||||||
EXOC6_chr10_92843520_93064490 | 92879656 | ATTCCTTA others(24): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02257.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 |
3 | 286 | 0.0105 | -31 | c.102 others(50): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EXOG_chr3_38491340_38531303 | 38492778 | ACACACAC others(24): Show |
A | upstream_gene_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0120 | 1 | 410 | 0.0024 | -31 | c.-35 others(42): Show |
EXOG | ENSG00000157036.13 | transcript | ENST00000287675.10 | protein_coding | 3561 | chr3 | TogoVar | |||||||
EYA2_chr20_46889843_47193844 | 47185276 | CTTTTTTT others(24): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG03098.hp1 HG03486.hp2 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0001 | a0001c0001t0001g0104 a0001c0001t0001g0155 a0001c0012t0001g0028 |
3 | 30 | 0.1000 | -31 | c.153 others(50): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA3_chr1_27965344_28093610 | 28084571 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0305 | 1 | 390 | 0.0026 | -31 | c.-69 others(48): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 64704478 | TATATTAT others(24): Show |
T | intron_variant | MODIFIER | HG01169.hp1 HG01169.hp2 HG02622.hp2 others(7): Show |
a0001a0002a0003others(6): Show | a0001c0019a0002c0012a0003c0008others(7): Show | a0001c0019t0001a0002c0012t0002a0003c0008t0002others(7): Show | a0001c0019t0001g0006 a0002c0012t0002g0021 a0003c0008t0002g0020 others(7): Show |
10 | 24 | 0.4167 | -31 | c.344 others(52): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 22/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 65506460 | CTTTTTTT others(24): Show |
C | intron_variant | MODIFIER | HG02965.hp1 | a0013 | a0013c0005 | a0013c0005t0001 | a0013c0005t0001g0014 | 1 | 2 | 0.5000 | -31 | c.-33 others(52): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 2/42 | chr6 | TogoVar | |||||||
F10_chr13_113117799_113154529 | 113154175 | CGGGGGAG others(24): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(164): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(144): Show |
167 | 409 | 0.4083 | -31 | c.*46 others(42): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 4647 | chr13 | TogoVar | |||||||
F12_chr5_177397141_177414564 | 177399512 | TGCGGGGC others(24): Show |
T | downstream_gene_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 452 | 0.0022 | -31 | c.*27 others(42): Show |
F12 | ENSG00000131187.11 | transcript | ENST00000253496.4 | protein_coding | 2628 | chr5 | TogoVar | |||||||
F13A1_chr6_6139084_6325662 | 6311715 | AATATATT others(24): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(227): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0006a0001c0021others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(47): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(226): Show |
230 | 290 | 0.7931 | -31 | c.131 others(48): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 2/14 | chr6 | TogoVar | |||||||
FAAP100_chr17_81534891_81557353 | 81542187 | AAAAAAAA others(24): Show |
A | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 394 | 0.0025 | -31 | c.242 others(48): Show |
FAAP100 | ENSG00000185504.17 | transcript | ENST00000327787.13 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
FADS2_chr11_61823300_61872354 | 61824478 | GAGAGAGA others(24): Show |
G | upstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0147 | 1 | 278 | 0.0036 | -31 | c.-39 others(42): Show |
FADS2 | ENSG00000134824.14 | transcript | ENST00000278840.9 | protein_coding | 3821 | chr11 | TogoVar | |||||||
FADS2_chr11_61823300_61872354 | 61824490 | GAAAGAAA others(24): Show |
G | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG02257.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0143 a0001c0001t0002g0130 a0001c0001t0003g0128 others(4): Show |
7 | 276 | 0.0254 | -31 | c.-39 others(42): Show |
FADS2 | ENSG00000134824.14 | transcript | ENST00000278840.9 | protein_coding | 3809 | chr11 | TogoVar | |||||||
FAF1_chr1_50432028_50965267 | 50746262 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 188 | 0.0053 | -31 | c.368 others(48): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 4/18 | chr1 | TogoVar | |||||||
FAM107B_chr10_14513557_14779897 | 14629418 | AATATATA others(24): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(85): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0001g0049 others(85): Show |
88 | 270 | 0.3259 | -31 | c.469 others(50): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
FAM107B_chr10_14513557_14779897 | 14629427 | AATATATA others(24): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01346.hp1 others(20): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0037 a0001c0001t0001g0088 a0001c0001t0001g0103 others(20): Show |
23 | 244 | 0.0943 | -31 | c.469 others(50): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
FAM151B_chr5_80483100_80547563 | 80494465 | TTTCTTTC others(24): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0295 a0001c0001t0002g0296 |
2 | 293 | 0.0068 | -31 | c.25+ others(46): Show |
FAM151B | ENSG00000152380.10 | transcript | ENST00000282226.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
FAM171A2_chr17_44348215_44368853 | 44368126 | ATATATAT others(24): Show |
A | upstream_gene_variant | MODIFIER | HG03130.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0015 |
2 | 364 | 0.0055 | -31 | c.-44 others(42): Show |
FAM171A2 | ENSG00000161682.15 | transcript | ENST00000293443.12 | protein_coding | 4274 | chr17 | TogoVar | |||||||
FAM171A2_chr17_44348215_44368853 | 44368128 | ATATATAT others(24): Show |
A | upstream_gene_variant | MODIFIER | HG00609.hp2 NA18992.hp1 NA19090.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0005 a0002c0003t0001g0038 |
3 | 350 | 0.0086 | -31 | c.-44 others(42): Show |
FAM171A2 | ENSG00000161682.15 | transcript | ENST00000293443.12 | protein_coding | 4276 | chr17 | TogoVar | |||||||
FAM171A2_chr17_44348215_44368853 | 44368130 | ATATATAT others(24): Show |
A | upstream_gene_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 372 | 0.0027 | -31 | c.-44 others(42): Show |
FAM171A2 | ENSG00000161682.15 | transcript | ENST00000293443.12 | protein_coding | 4278 | chr17 | TogoVar | |||||||
FAM174B_chr15_92612448_92660775 | 92631144 | CATATTAT others(24): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(80): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0039 a0001c0001t0001g0134 a0001c0001t0001g0161 others(79): Show |
83 | 387 | 0.2145 | -31 | c.345 others(46): Show |
FAM174B | ENSG00000185442.13 | transcript | ENST00000327355.6 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
FAM178B_chr2_96870885_96991580 | 96905830 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | NA18966.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0216 | 1 | 244 | 0.0041 | -31 | c.156 others(50): Show |
FAM178B | ENSG00000168754.15 | transcript | ENST00000490605.3 | protein_coding | 12/16 | chr2 | TogoVar | |||||||
FAM178B_chr2_96870885_96991580 | 96987178 | CAAAAAAA others(24): Show |
C | upstream_gene_variant | MODIFIER | HG00597.hp2 NA18941.hp1 NA18951.hp1 others(5): Show |
a0001 | a0001c0001a0001c0017 | a0001c0001t0001a0001c0017t0001 | a0001c0001t0001g0079 a0001c0001t0001g0134 a0001c0001t0001g0135 others(5): Show |
8 | 18 | 0.4444 | -31 | c.-89 others(40): Show |
FAM178B | ENSG00000168754.15 | transcript | ENST00000490605.3 | protein_coding | 599 | chr2 | TogoVar | |||||||
FAM193A_chr4_2531647_2737573 | 2590475 | ACAAAAAA others(24): Show |
A | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0116 | 1 | 299 | 0.0033 | -31 | c.256 others(48): Show |
FAM193A | ENSG00000125386.16 | transcript | ENST00000637812.2 | protein_coding | 1/20 | chr4 | TogoVar | |||||||
FAM9B_chrX_9019232_9039127 | 9022236 | ATATATTA others(24): Show |
A | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0001g0039 |
4 | 245 | 0.0163 | -31 | c.*31 others(42): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 1995 | chrX | TogoVar | |||||||
FANCD2OS_chr3_10098937_10113255 | 10105762 | AAAAAAAA others(24): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02818.hp1 HG02922.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0006a0002c0002t0002 | a0001c0003t0006g0024 a0002c0002t0002g0011 |
3 | 313 | 0.0096 | -31 | c.-8- others(45): Show |
FANCD2OS | ENSG00000163705.13 | transcript | ENST00000450660.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
FANCD2OS_chr3_10098937_10113255 | 10105764 | AAAAAAAA others(24): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG02895.hp1 HG02897.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0004 | a0001c0001t0002g0002 a0001c0003t0004g0009 a0001c0003t0004g0021 others(1): Show |
5 | 318 | 0.0157 | -31 | c.-8- others(45): Show |
FANCD2OS | ENSG00000163705.13 | transcript | ENST00000450660.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
FANCD2OS_chr3_10098937_10113255 | 10105766 | AAAAAATT others(24): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02622.hp1 others(4): Show |
a0001a0006 | a0001c0003a0006c0005 | a0001c0003t0004a0006c0005t0006 | a0001c0003t0004g0009 a0006c0005t0006g0023 |
7 | 328 | 0.0213 | -31 | c.-8- others(45): Show |
FANCD2OS | ENSG00000163705.13 | transcript | ENST00000450660.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
FANCD2OS_chr3_10098937_10113255 | 10105770 | AATTATAT others(24): Show |
A | intron_variant | MODIFIER | HG02056.hp1 NA18747.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0029 |
2 | 261 | 0.0077 | -31 | c.-8- others(45): Show |
FANCD2OS | ENSG00000163705.13 | transcript | ENST00000450660.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
FANCD2_chr3_10021437_10106932 | 10105762 | AAAAAAAA others(24): Show |
A | downstream_gene_variant | MODIFIER | HG02258.hp2 HG02818.hp2 HG02922.hp1 |
a0002a0009 | a0002c0002a0009c0010 | a0002c0002t0002a0009c0010t0003 | a0002c0002t0002g0203 a0002c0002t0002g0204 a0009c0010t0003g0154 |
3 | 210 | 0.0143 | -31 | c.*45 others(42): Show |
FANCD2 | ENSG00000144554.13 | transcript | ENST00000675286.1 | protein_coding | 3831 | chr3 | TogoVar | |||||||
FANCD2_chr3_10021437_10106932 | 10105764 | AAAAAAAA others(24): Show |
A | downstream_gene_variant | MODIFIER | HG02615.hp2 HG02895.hp1 HG02897.hp2 others(2): Show |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0002a0003c0004t0003 | a0002c0002t0002g0186 a0002c0002t0002g0188 a0003c0004t0003g0157 others(2): Show |
5 | 219 | 0.0228 | -31 | c.*45 others(42): Show |
FANCD2 | ENSG00000144554.13 | transcript | ENST00000675286.1 | protein_coding | 3833 | chr3 | TogoVar | |||||||
FANCD2_chr3_10021437_10106932 | 10105766 | AAAAAATT others(24): Show |
A | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02622.hp1 others(4): Show |
a0003a0009 | a0003c0004a0009c0010 | a0003c0004t0003a0009c0010t0003 | a0003c0004t0003g0156 a0003c0004t0003g0158 a0003c0004t0003g0159 others(4): Show |
7 | 226 | 0.0310 | -31 | c.*45 others(42): Show |
FANCD2 | ENSG00000144554.13 | transcript | ENST00000675286.1 | protein_coding | 3835 | chr3 | TogoVar | |||||||
FANCD2_chr3_10021437_10106932 | 10105770 | AATTATAT others(24): Show |
A | downstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 193 | 0.0052 | -31 | c.*45 others(42): Show |
FANCD2 | ENSG00000144554.13 | transcript | ENST00000675286.1 | protein_coding | 3839 | chr3 | TogoVar | |||||||
FANCL_chr2_58154247_58246325 | 58217142 | GATTTATA others(24): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG01099.hp1 HG01106.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(16): Show |
21 | 322 | 0.0652 | -31 | c.374 others(48): Show |
FANCL | ENSG00000115392.13 | transcript | ENST00000233741.9 | protein_coding | 5/13 | chr2 | TogoVar | |||||||
FBN1_chr15_48403313_48650709 | 48568018 | AAAGAAAG others(24): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG03453.hp2 NA18963.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0008a0001c0004t0004 | a0001c0002t0008g0135 a0001c0002t0008g0136 a0001c0004t0004g0139 |
3 | 286 | 0.0105 | -31 | c.538 others(50): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | TogoVar |