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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DRD3_chr3_114122580_114184052 | 114156715 | GTCTTTCT others(39): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00642.hp2 HG00738.hp1 others(27): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0006others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(3): Show | a0001c0002t0001g0019 a0001c0002t0001g0223 a0001c0002t0001g0227 others(25): Show |
30 | 287 | 0.1045 | -46 | c.383 others(63): Show |
DRD3 | ENSG00000151577.14 | transcript | ENST00000383673.5 | protein_coding | 3/6 | chr3 | TogoVar | |||||||
DTD1_chr20_18583054_18771644 | 18708241 | TATAATAT others(39): Show |
T | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0005 | 1 | 319 | 0.0031 | -46 | c.478 others(65): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | chr20 | TogoVar | |||||||
DUS2_chr16_68018284_68084320 | 68020835 | ATATATAT others(39): Show |
A | upstream_gene_variant | MODIFIER | NA18940.hp1 NA19010.hp1 NA19055.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 a0001c0002t0001g0048 |
3 | 227 | 0.0132 | -46 | c.-26 others(57): Show |
DUS2 | ENSG00000167264.18 | transcript | ENST00000565263.6 | protein_coding | 2448 | chr16 | TogoVar | |||||||
EAPP_chr14_34510938_34544701 | 34538320 | AGTGAGCC others(39): Show |
A | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 358 | 0.0028 | -46 | c.74+ others(61): Show |
EAPP | ENSG00000129518.10 | transcript | ENST00000250454.8 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
EBLN2_chr3_73056659_73068337 | 73067276 | AAAACTGA others(39): Show |
A | downstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 426 | 0.0023 | -46 | c.*43 others(57): Show |
EBLN2 | ENSG00000255423.1 | transcript | ENST00000533473.1 | protein_coding | 3940 | chr3 | TogoVar | |||||||
ECHS1_chr10_133357485_133378354 | 133366581 | TTGGATGC others(39): Show |
T | intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 352 | 0.0028 | -46 | c.619 others(61): Show |
ECHS1 | ENSG00000127884.5 | transcript | ENST00000368547.4 | protein_coding | 5/7 | chr10 | TogoVar | |||||||
ECHS1_chr10_133357485_133378354 | 133366638 | CCTGGGTT others(39): Show |
C | intron_variant | MODIFIER | HG03453.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0121 | 1 | 352 | 0.0028 | -46 | c.619 others(61): Show |
ECHS1 | ENSG00000127884.5 | transcript | ENST00000368547.4 | protein_coding | 5/7 | chr10 | TogoVar | |||||||
EIF2AK2_chr2_37094210_37161980 | 37161227 | AAAAAAAA others(39): Show |
A | upstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0023 | 1 | 320 | 0.0031 | -46 | c.-45 others(57): Show |
EIF2AK2 | ENSG00000055332.19 | transcript | ENST00000233057.9 | protein_coding | 4248 | chr2 | TogoVar | |||||||
EIF4A1_chr17_7567825_7584006 | 7571866 | TATATATA others(39): Show |
T | upstream_gene_variant | MODIFIER | HG02647.hp2 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004 a0001c0001t0002g0015 |
2 | 434 | 0.0046 | -46 | c.-97 others(55): Show |
EIF4A1 | ENSG00000161960.16 | transcript | ENST00000293831.13 | protein_coding | 958 | chr17 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3287223 | GTTCACCA others(39): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(94): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0016 others(94): Show |
97 | 248 | 0.3911 | -46 | c.260 others(65): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3299322 | CTGTCCTG others(39): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01074.hp2 HG01192.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0030 a0001c0001t0001g0079 a0001c0001t0001g0080 others(12): Show |
15 | 248 | 0.0605 | -46 | c.259 others(65): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3304859 | CTGCCATC others(39): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(87): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0017 others(87): Show |
90 | 248 | 0.3629 | -46 | c.259 others(65): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ELL2_chr5_95880098_95966851 | 95927474 | CATACACA others(39): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG01975.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0154 a0001c0001t0003g0188 |
2 | 253 | 0.0079 | -46 | c.196 others(63): Show |
ELL2 | ENSG00000118985.16 | transcript | ENST00000237853.9 | protein_coding | 2/11 | chr5 | TogoVar | |||||||
ELL2_chr5_95880098_95966851 | 95927478 | CACACACG others(39): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG01928.hp2 HG01978.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0023 | a0001c0001t0002g0215 a0001c0001t0003g0002 a0001c0001t0003g0009 others(15): Show |
21 | 286 | 0.0734 | -46 | c.196 others(63): Show |
ELL2 | ENSG00000118985.16 | transcript | ENST00000237853.9 | protein_coding | 2/11 | chr5 | TogoVar | |||||||
EMC10_chr19_50471507_50495871 | 50493179 | GGGCGAGA others(39): Show |
G | downstream_gene_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 350 | 0.0029 | -46 | c.*10 others(59): Show |
EMC10 | ENSG00000161671.17 | transcript | ENST00000334976.11 | protein_coding | 2309 | chr19 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88796434 | ATTATATA others(39): Show |
A | upstream_gene_variant | MODIFIER | HG02040.hp1 NA18980.hp2 |
a0004 | a0004c0007 | a0004c0007t0016 | a0004c0007t0016g0007 a0004c0007t0016g0008 |
2 | 330 | 0.0061 | -46 | c.-39 others(57): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3482 | chr14 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 667429 | GAGATGGT others(39): Show |
G | downstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0064 | 1 | 413 | 0.0024 | -46 | c.*68 others(57): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2888 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 667435 | GTGATGGT others(39): Show |
G | downstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0047 | 1 | 414 | 0.0024 | -46 | c.*68 others(57): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2882 | chr18 | TogoVar | |||||||
ENPP6_chr4_184083706_184222873 | 184220434 | GGAAAGGG others(39): Show |
G | upstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0071 | 1 | 318 | 0.0031 | -46 | c.-26 others(57): Show |
ENPP6 | ENSG00000164303.11 | transcript | ENST00000296741.7 | protein_coding | 2562 | chr4 | TogoVar | |||||||
ENTR1_chr9_136396922_136415614 | 136403370 | GGGGGAGA others(39): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG01123.hp2 HG01361.hp1 others(11): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0002t0015a0002c0003t0002others(4): Show | a0001c0001t0001g0040 a0001c0002t0015g0064 a0002c0003t0002g0003 others(5): Show |
14 | 410 | 0.0341 | -46 | c.120 others(63): Show |
ENTR1 | ENSG00000165689.17 | transcript | ENST00000357365.8 | protein_coding | 9/9 | chr9 | TogoVar | |||||||
EPCAM_chr2_47364311_47392020 | 47365490 | ATATATAT others(39): Show |
A | upstream_gene_variant | MODIFIER | HG01978.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012 | 1 | 448 | 0.0022 | -46 | c.-40 others(57): Show |
EPCAM | ENSG00000119888.11 | transcript | ENST00000263735.9 | protein_coding | 3820 | chr2 | TogoVar | |||||||
EPHA2_chr1_16119337_16161069 | 16136666 | GAAGAAAA others(39): Show |
G | intron_variant | MODIFIER | HG02922.hp1 HG03654.hp2 |
a0001 | a0001c0004a0001c0010 | a0001c0004t0002a0001c0010t0001 | a0001c0004t0002g0108 a0001c0010t0001g0163 |
2 | 302 | 0.0066 | -46 | c.131 others(63): Show |
EPHA2 | ENSG00000142627.13 | transcript | ENST00000358432.8 | protein_coding | 5/16 | chr1 | TogoVar | |||||||
EPHA6_chr3_96809594_97766532 | 97363171 | AATATATA others(39): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG01175.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(14): Show | a0001c0001t0001g0024 a0001c0001t0004g0015 a0001c0001t0004g0070 others(21): Show |
24 | 27 | 0.8889 | -46 | c.160 others(67): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212446578 | CATATATA others(39): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0035 | 1 | 18 | 0.0556 | -46 | c.82+ others(63): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERFL_chr19_41902704_41933449 | 41914806 | TCCCCCTC others(39): Show |
T | intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0162 | 1 | 322 | 0.0031 | -46 | c.-13 others(63): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 659619 | GTGACCAT others(39): Show |
G | downstream_gene_variant | MODIFIER | HG00609.hp1 HG01975.hp1 HG01981.hp1 others(16): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0030 others(16): Show |
19 | 375 | 0.0507 | -46 | c.*49 others(57): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4580 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 659834 | CATCCTGG others(39): Show |
C | downstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 376 | 0.0027 | -46 | c.*47 others(57): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4365 | chr8 | TogoVar | |||||||
ERICH5_chr8_98059568_98098609 | 98073432 | CTATATAT others(39): Show |
C | intron_variant | MODIFIER | HG01943.hp2 HG02698.hp1 HG02809.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0096 a0001c0001t0001g0256 a0001c0001t0001g0360 others(2): Show |
5 | 336 | 0.0149 | -46 | c.58+ others(61): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ERICH5_chr8_98059568_98098609 | 98073470 | ATATATAT others(39): Show |
A | intron_variant | MODIFIER | NA18949.hp1 NA18985.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0241 a0001c0001t0002g0270 |
2 | 429 | 0.0047 | -46 | c.58+ others(61): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ETS1_chr11_128453765_128592558 | 128571472 | CCAGCCTG others(39): Show |
C | intron_variant | MODIFIER | HG02735.hp2 HG03486.hp1 NA18944.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0024 a0001c0002t0001g0009 a0001c0002t0002g0015 others(2): Show |
5 | 256 | 0.0195 | -46 | c.69+ others(61): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 2/9 | chr11 | TogoVar | |||||||
ETS1_chr11_128453765_128592558 | 128584986 | GAAAGGAA others(39): Show |
G | intron_variant | MODIFIER | HG02300.hp2 HG02486.hp1 HG04115.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0003a0001c0002t0006 | a0001c0001t0005g0195 a0001c0002t0003g0196 a0001c0002t0006g0145 |
3 | 274 | 0.0109 | -46 | c.-15 others(63): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
ETS1_chr11_128453765_128592558 | 128585090 | GGAAAGAA others(39): Show |
G | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0119 | 1 | 283 | 0.0035 | -46 | c.-15 others(63): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
ETV5_chr3_186041314_186114089 | 186113486 | TTTGCTAA others(39): Show |
T | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(100): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(8): Show | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0026 others(85): Show |
103 | 338 | 0.3047 | -46 | c.-46 others(57): Show |
ETV5 | ENSG00000244405.8 | transcript | ENST00000306376.10 | protein_coding | 4398 | chr3 | TogoVar | |||||||
EXOC3_chr5_438176_472290 | 467396 | GGAGGGCG others(39): Show |
G | downstream_gene_variant | MODIFIER | HG02056.hp1 HG02083.hp2 NA18945.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0007 a0001c0002t0001g0002 a0001c0002t0001g0033 others(6): Show |
18 | 416 | 0.0433 | -46 | c.*49 others(55): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 107 | chr5 | TogoVar | |||||||
EXOC3_chr5_438176_472290 | 467466 | CTGTCTGA others(39): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00735.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003a0001c0002t0006 | a0001c0001t0001g0004 a0001c0001t0001g0113 a0001c0002t0003g0005 others(9): Show |
25 | 233 | 0.1073 | -46 | c.*56 others(55): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 177 | chr5 | TogoVar | |||||||
EXOC3_chr5_438176_472290 | 467488 | AGAGGGTG others(39): Show |
A | downstream_gene_variant | MODIFIER | HG01516.hp1 HG01978.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 a0001c0001t0001g0175 |
2 | 235 | 0.0085 | -46 | c.*59 others(55): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 199 | chr5 | TogoVar | |||||||
EXOC3_chr5_438176_472290 | 467816 | TGCCCTCC others(39): Show |
T | downstream_gene_variant | MODIFIER | HG01516.hp1 HG01978.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 a0001c0001t0001g0175 |
2 | 402 | 0.0050 | -46 | c.*91 others(55): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 527 | chr5 | TogoVar | |||||||
EXOC3_chr5_438176_472290 | 467856 | AGAGGGCG others(39): Show |
A | downstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0005 | 1 | 403 | 0.0025 | -46 | c.*95 others(56): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 567 | chr5 | TogoVar | |||||||
EXOC3_chr5_438176_472290 | 467928 | ATCTGACA others(39): Show |
A | downstream_gene_variant | MODIFIER | HG01099.hp2 HG01167.hp2 HG01169.hp2 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0008 a0001c0003t0002g0053 |
8 | 362 | 0.0221 | -46 | c.*10 others(57): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 639 | chr5 | TogoVar | |||||||
EXOC3_chr5_438176_472290 | 468158 | GTCTGACA others(39): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00741.hp2 others(26): Show |
a0001 | a0001c0002a0001c0003a0001c0014 | a0001c0002t0001a0001c0002t0003a0001c0003t0002others(1): Show | a0001c0002t0001g0077 a0001c0002t0003g0005 a0001c0003t0002g0008 others(10): Show |
29 | 411 | 0.0706 | -46 | c.*12 others(57): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 869 | chr5 | TogoVar | |||||||
EXOC4_chr7_133248078_134070761 | 133823866 | TATATATT others(39): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp1 HG02109.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0061 a0001c0001t0003g0004 a0001c0001t0005g0034 others(10): Show |
13 | 100 | 0.1300 | -46 | c.173 others(65): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOG_chr3_38491340_38531303 | 38492759 | CACACACA others(39): Show |
C | upstream_gene_variant | MODIFIER | HG00438.hp1 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0010 a0001c0001t0004g0031 |
2 | 410 | 0.0049 | -46 | c.-36 others(57): Show |
EXOG | ENSG00000157036.13 | transcript | ENST00000287675.10 | protein_coding | 3580 | chr3 | TogoVar | |||||||
EXT2_chr11_44090678_44256962 | 44096365 | TCGGGGGC others(39): Show |
T | intron_variant | MODIFIER | HG02896.hp1 HG02970.hp2 |
a0001 | a0001c0009 | a0001c0009t0026 | a0001c0009t0026g0304 a0001c0009t0026g0305 |
2 | 332 | 0.0060 | -46 | c.-31 others(61): Show |
EXT2 | ENSG00000151348.16 | transcript | ENST00000533608.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EZR_chr6_158760748_158824368 | 158803536 | TATATATA others(39): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00609.hp2 HG01256.hp1 others(19): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0012 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(3): Show | a0001c0001t0001g0009 a0001c0001t0001g0056 a0001c0001t0001g0058 others(17): Show |
22 | 295 | 0.0746 | -46 | c.13- others(63): Show |
EZR | ENSG00000092820.19 | transcript | ENST00000367075.4 | protein_coding | 2/13 | chr6 | TogoVar | |||||||
EZR_chr6_158760748_158824368 | 158803582 | CATATATA others(39): Show |
C | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0151 | 1 | 292 | 0.0034 | -46 | c.13- others(63): Show |
EZR | ENSG00000092820.19 | transcript | ENST00000367075.4 | protein_coding | 2/13 | chr6 | TogoVar | |||||||
F13B_chr1_197033741_197072260 | 197065667 | CTGTGAGT others(39): Show |
C | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0164 | 1 | 340 | 0.0029 | -46 | c.64+ others(61): Show |
F13B | ENSG00000143278.5 | transcript | ENST00000367412.2 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
FAAH2_chrX_57281706_57494193 | 57352047 | TGTGTATA others(39): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 a0001c0001t0001g0093 |
2 | 276 | 0.0072 | -46 | c.742 others(65): Show |
FAAH2 | ENSG00000165591.7 | transcript | ENST00000374900.5 | protein_coding | 5/10 | chrX | TogoVar | |||||||
FAAP100_chr17_81534891_81557353 | 81535071 | TCAGGATG others(39): Show |
T | downstream_gene_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 434 | 0.0023 | -46 | c.*57 others(57): Show |
FAAP100 | ENSG00000185504.17 | transcript | ENST00000327787.13 | protein_coding | 4819 | chr17 | TogoVar | |||||||
FAF1_chr1_50432028_50965267 | 50819742 | TATATATA others(39): Show |
T | intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0123 | 1 | 185 | 0.0054 | -46 | c.115 others(65): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 2/18 | chr1 | TogoVar | |||||||
FAF2_chr5_176443385_176515074 | 176451801 | TATATATA others(39): Show |
T | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0005 | 1 | 370 | 0.0027 | -46 | c.63+ others(61): Show |
FAF2 | ENSG00000113194.13 | transcript | ENST00000261942.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |