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 | 97508984 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG03486.hp1 NA21309.hp1 |
a0001 | a0001c0003 | a0001c0003t0013a0001c0003t0027 | a0001c0003t0013g0001 a0001c0003t0027g0002 |
2 | 13 | 0.1538 | -19 | c.220 others(40): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EPHA7_chr6_93235020_93424559 | 93245253 | GTACCTAA others(12): Show |
G | intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0015 | 1 | 278 | 0.0036 | -19 | c.288 others(34): Show |
EPHA7 | ENSG00000135333.15 | transcript | ENST00000369303.9 | protein_coding | 16/16 | chr6 | TogoVar | |||||||
EPHB4_chr7_100797565_100832523 | 100801783 | AAAAAAAA others(12): Show |
A | downstream_gene_variant | MODIFIER | HG02738.hp1 NA19240.hp1 |
a0001 | a0001c0001a0001c0018 | a0001c0001t0005a0001c0018t0001 | a0001c0001t0005g0276 a0001c0018t0001g0271 |
2 | 362 | 0.0055 | -19 | c.*16 others(30): Show |
EPHB4 | ENSG00000196411.10 | transcript | ENST00000358173.8 | protein_coding | 781 | chr7 | TogoVar | |||||||
EPHX4_chr1_92024985_92068538 | 92063405 | ATAAATAT others(12): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG01081.hp2 HG01884.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 a0001c0001t0002g0190 a0001c0001t0002g0198 others(5): Show |
8 | 234 | 0.0342 | -19 | c.*12 others(28): Show |
EPHX4 | ENSG00000172031.7 | transcript | ENST00000370383.5 | protein_coding | 7/7 | 122 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EPRS1_chr1_219963600_220051505 | 220044681 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG01433.hp2 HG02004.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0002g0032 others(4): Show |
7 | 19 | 0.3684 | -19 | c.46+ others(34): Show |
EPRS1 | ENSG00000136628.18 | transcript | ENST00000366923.8 | protein_coding | 1/31 | chr1 | TogoVar | |||||||
EPSTI1_chr13_42881388_42997241 | 42942658 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG02615.hp2 NA18942.hp1 NA18959.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0050a0001c0002t0010 | a0001c0001t0004g0122 a0001c0001t0050g0346 a0001c0002t0010g0212 |
3 | 6 | 0.5000 | -19 | c.563 others(38): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 6/10 | chr13 | TogoVar | |||||||
EPX_chr17_58187726_58210174 | 58203931 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | NA19090.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0073 | 1 | 53 | 0.0189 | -19 | c.194 others(36): Show |
EPX | ENSG00000121053.6 | transcript | ENST00000225371.6 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EPYC_chr12_90958682_91009972 | 91002748 | CATTGCTG others(12): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG01081.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0036 a0001c0001t0001g0078 others(7): Show |
13 | 344 | 0.0378 | -19 | c.-13 others(34): Show |
EPYC | ENSG00000083782.8 | transcript | ENST00000261172.8 | protein_coding | 1/6 | chr12 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211622989 | AAATATAT others(12): Show |
A | intron_variant | MODIFIER | HG01069.hp1 NA19043.hp1 NA19043.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0030a0001c0002t0001 | a0001c0001t0005g0044 a0001c0001t0030g0056 a0001c0002t0001g0036 |
3 | 54 | 0.0556 | -19 | c.220 others(36): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 18/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211662038 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02615.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0001 | a0001c0001t0006g0026 a0001c0002t0001g0020 |
2 | 5 | 0.4000 | -19 | c.187 others(38): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 15/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211716362 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG03195.hp1 HG03239.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0010a0001c0001t0025a0001c0001t0030others(1): Show | a0001c0001t0010g0005 a0001c0001t0025g0051 a0001c0001t0030g0056 others(1): Show |
4 | 9 | 0.4444 | -19 | c.884 others(36): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 7/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212187483 | TATATTGA others(12): Show |
T | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0041 | 1 | 56 | 0.0179 | -19 | c.83- others(36): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBIN_chr5_65921575_66087546 | 65940568 | GCGCCTCT others(12): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG02257.hp1 others(9): Show |
a0005 | a0005c0006 | a0005c0006t0002a0005c0006t0007a0005c0006t0015others(1): Show | a0005c0006t0002g0229 a0005c0006t0002g0263 a0005c0006t0007g0027 others(9): Show |
12 | 304 | 0.0395 | -19 | c.-58 others(38): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERBIN_chr5_65921575_66087546 | 65958596 | CAGAGGGA others(12): Show |
C | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0091 | 1 | 303 | 0.0033 | -19 | c.-57 others(38): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERBIN_chr5_65921575_66087546 | 65965379 | GTTGTTTT others(12): Show |
G | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0210 | 1 | 299 | 0.0033 | -19 | c.-57 others(38): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERBIN_chr5_65921575_66087546 | 65965382 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | HG01943.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0171 | 1 | 37 | 0.0270 | -19 | c.-57 others(38): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERBIN_chr5_65921575_66087546 | 66018468 | ATATATTA others(12): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0005 | a0005c0006 | a0005c0006t0015 | a0005c0006t0015g0223 | 1 | 297 | 0.0034 | -19 | c.534 others(36): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 7/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERBIN_chr5_65921575_66087546 | 66050226 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG02630.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0172 a0001c0002t0002g0208 a0001c0002t0002g0209 others(5): Show |
8 | 221 | 0.0362 | -19 | c.190 others(36): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERBIN_chr5_65921575_66087546 | 66065590 | CCTGTGTG others(12): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG02630.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0172 a0001c0002t0002g0209 a0001c0002t0002g0211 others(3): Show |
6 | 302 | 0.0199 | -19 | c.363 others(38): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 21/25 | chr5 | TogoVar | |||||||
ERBIN_chr5_65921575_66087546 | 66065641 | GTGTGTGT others(12): Show |
G | intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0261 | 1 | 303 | 0.0033 | -19 | c.363 others(38): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 21/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1398942 | TTTTTTTT others(12): Show |
T | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0066 | 1 | 160 | 0.0063 | -19 | c.292 others(38): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1400908 | ATTTTTGT others(12): Show |
A | intron_variant | MODIFIER | HG01257.hp1 HG01346.hp1 HG01358.hp2 others(24): Show |
a0001a0002 | a0001c0001a0001c0013a0002c0002 | a0001c0001t0001a0001c0001t0009a0001c0001t0018others(20): Show | a0001c0001t0001g0086 a0001c0001t0009g0072 a0001c0001t0018g0074 others(24): Show |
27 | 131 | 0.2061 | -19 | c.292 others(38): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55714679 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0053 | 1 | 72 | 0.0139 | -19 | c.271 others(40): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 15/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 56329921 | CAATATAC others(12): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0023 | 1 | 72 | 0.0139 | -19 | c.658 others(38): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 2/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 56446679 | GCACTGGC others(12): Show |
G | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0074 | 1 | 72 | 0.0139 | -19 | c.-14 others(40): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 1/17 | chr3 | TogoVar | |||||||
ERCC3_chr2_127252290_127299144 | 127295967 | TAAAAAAA others(12): Show |
T | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01069.hp2 HG01106.hp2 others(16): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0004c0009t0001 | a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0080 others(12): Show |
19 | 206 | 0.0922 | -19 | c.-19 others(30): Show |
ERCC3 | ENSG00000163161.14 | transcript | ENST00000285398.7 | protein_coding | 1824 | chr2 | TogoVar | |||||||
ERCC6L2_chr9_95870691_96023447 | 95998079 | CTTTCTGG others(12): Show |
C | intron_variant | MODIFIER | HG02723.hp1 | a0017 | a0017c0024 | a0017c0024t0074 | a0017c0024t0074g0256 | 1 | 390 | 0.0026 | -19 | c.349 others(38): Show |
ERCC6L2 | ENSG00000182150.19 | transcript | ENST00000653738.2 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ERFE_chr2_238153970_238173890 | 238166511 | ACTGCTGG others(12): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0077 | 1 | 454 | 0.0022 | -19 | c.967 others(34): Show |
ERFE | ENSG00000178752.16 | transcript | ENST00000546354.6 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ERFL_chr19_41902704_41933449 | 41914845 | GTCTCTCC others(12): Show |
G | intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0240 | 1 | 328 | 0.0030 | -19 | c.-13 others(36): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ERI1_chr8_8997897_9038338 | 9020587 | ACTCTTCA others(12): Show |
A | intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 424 | 0.0024 | -19 | c.807 others(34): Show |
ERI1 | ENSG00000104626.15 | transcript | ENST00000250263.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ERI3_chr1_44216070_44360257 | 44267659 | TCTGCCTG others(12): Show |
T | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 338 | 0.0030 | -19 | c.831 others(38): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 7/8 | chr1 | TogoVar | |||||||
ERI3_chr1_44216070_44360257 | 44342849 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 331 | 0.0030 | -19 | c.212 others(36): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 700374 | CGCACAGG others(12): Show |
C | intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 374 | 0.0027 | -19 | c.170 others(36): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ERICH5_chr8_98059568_98098609 | 98079153 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00621.hp1 others(42): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0003c0003t0004others(2): Show | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(41): Show |
45 | 361 | 0.1247 | -19 | c.59- others(34): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ERICH5_chr8_98059568_98098609 | 98083336 | ATGCATTG others(12): Show |
A | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 440 | 0.0023 | -19 | c.59- others(34): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | chr8 | TogoVar | |||||||
ERICH5_chr8_98059568_98098609 | 98085136 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG01106.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0004c0004t0001 | a0001c0001t0001g0008 a0001c0001t0001g0069 a0001c0001t0001g0257 others(3): Show |
7 | 17 | 0.4118 | -19 | c.59- others(34): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ERICH6B_chr13_45536294_45620739 | 45606531 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 286 | 0.0035 | -19 | c.-59 others(36): Show |
ERICH6B | ENSG00000165837.12 | transcript | ENST00000298738.3 | protein_coding | 2/14 | chr13 | TogoVar | |||||||
ERLIN1_chr10_100145094_100191029 | 100183532 | CTTCCAAG others(12): Show |
C | intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 384 | 0.0026 | -19 | c.195 others(34): Show |
ERLIN1 | ENSG00000107566.14 | transcript | ENST00000421367.7 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
ERMN_chr2_157313631_157330824 | 157323729 | TAAATGTA others(12): Show |
T | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0065 | 1 | 366 | 0.0027 | -19 | c.334 others(34): Show |
ERMN | ENSG00000136541.15 | transcript | ENST00000410096.6 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
ERP44_chr9_99974185_100104000 | 100100783 | ATATTATA others(12): Show |
A | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01975.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 a0001c0001t0001g0147 |
2 | 218 | 0.0092 | -19 | c.-19 others(30): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 1784 | chr9 | TogoVar | |||||||
ERV3-1_chr7_64985356_65011687 | 64989441 | AATTATAT others(12): Show |
A | downstream_gene_variant | MODIFIER | HG00733.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0021 | 1 | 455 | 0.0022 | -19 | c.*17 others(30): Show |
ERV3-1 | ENSG00000213462.5 | transcript | ENST00000394323.3 | protein_coding | 914 | chr7 | TogoVar | |||||||
ESF1_chr20_13709325_13789919 | 13709681 | AGTGCTGG others(12): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG00733.hp1 others(44): Show |
a0001a0003a0011 | a0001c0001a0001c0007a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0002g0095 others(41): Show |
47 | 388 | 0.1211 | -19 | c.*51 others(30): Show |
ESF1 | ENSG00000089048.15 | transcript | ENST00000617257.2 | protein_coding | 4643 | chr20 | TogoVar | |||||||
ESPN_chr1_6419776_6465944 | 6447188 | GCTGTGTG others(12): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG03225.hp2 |
a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0025 | 2 | 274 | 0.0073 | -19 | c.146 others(38): Show |
ESPN | ENSG00000187017.18 | transcript | ENST00000645284.1 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ESPN_chr1_6419776_6465944 | 6463725 | CAAAAAAA others(12): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp1 NA20300.hp2 |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0026 | 2 | 167 | 0.0120 | -19 | c.*35 others(30): Show |
ESPN | ENSG00000187017.18 | transcript | ENST00000645284.1 | protein_coding | 2782 | chr1 | TogoVar | |||||||
ESR2_chr14_64223317_64299371 | 64246734 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG02922.hp2 NA19043.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0064 | a0001c0001t0022g0250 a0001c0001t0022g0253 a0001c0001t0022g0254 others(1): Show |
4 | 32 | 0.1250 | -19 | c.122 others(38): Show |
ESR2 | ENSG00000140009.19 | transcript | ENST00000341099.6 | protein_coding | 7/8 | chr14 | TogoVar | |||||||
ESRP1_chr8_94636174_94712466 | 94650558 | TGGTTTGT others(12): Show |
T | intron_variant | MODIFIER | HG00438.hp2 NA18747.hp2 NA18941.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 others(5): Show |
8 | 372 | 0.0215 | -19 | c.490 others(36): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ESRRA_chr11_64300524_64321743 | 64321120 | CTGTGGGA others(12): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00621.hp2 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0179 a0001c0001t0002g0009 a0001c0001t0002g0017 others(25): Show |
47 | 386 | 0.1218 | -19 | c.*51 others(30): Show |
ESRRA | ENSG00000173153.17 | transcript | ENST00000000442.11 | protein_coding | 4378 | chr11 | TogoVar | |||||||
ESRRB_chr14_76371137_76506837 | 76414144 | TCTCCCGC others(12): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG03130.hp1 NA19043.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0017a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0017g0024 a0001c0002t0001g0049 a0001c0002t0002g0048 others(1): Show |
4 | 316 | 0.0127 | -19 | c.51- others(36): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ESYT2_chr7_158725997_158834509 | 158790025 | GGGAGAGT others(12): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp2 others(103): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0002c0010others(5): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(14): Show | a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0089 others(101): Show |
106 | 368 | 0.2880 | -19 | c.585 others(36): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 4/22 | chr7 | TogoVar | |||||||
ESYT2_chr7_158725997_158834509 | 158790030 | AGTCCTCC others(12): Show |
A | intron_variant | MODIFIER | NA18954.hp1 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0037 | 1 | 368 | 0.0027 | -19 | c.585 others(36): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 4/22 | chr7 | TogoVar |