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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EFCAB5_chr17_29936634_30113452 | 30076119 | T | TCCTTTCT others(11): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 a0001c0001t0001g0241 |
2 | 248 | 0.0081 | 18 | c.273 others(37): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | TogoVar | |||||||
EFCAB5_chr17_29936634_30113452 | 30097014 | A | ATATACAT others(11): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0131 | 1 | 248 | 0.0040 | 18 | c.432 others(37): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43548539 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 290 | 0.0035 | 18 | c.364 others(37): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 27/31 | chr22 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43587972 | A | AAAATTTT others(11): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0131 | 1 | 290 | 0.0035 | 18 | c.303 others(37): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 24/31 | chr22 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43689349 | G | GCACACAC others(11): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02976.hp2 HG03041.hp2 |
a0002a0016a0023 | a0002c0002a0016c0026a0023c0033 | a0002c0002t0001a0016c0026t0001a0023c0033t0001 | a0002c0002t0001g0259 a0016c0026t0001g0152 a0023c0033t0001g0181 |
3 | 290 | 0.0103 | 18 | c.103 others(37): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 10/31 | chr22 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43784541 | G | GTATATGT others(11): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02559.hp2 HG02615.hp1 others(11): Show |
a0002a0016 | a0002c0002a0002c0038a0016c0026 | a0002c0002t0001a0002c0038t0001a0016c0026t0001 | a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 others(11): Show |
14 | 290 | 0.0483 | 18 | c.-7- others(33): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 2/31 | chr22 | TogoVar | |||||||
EFCAB8_chr20_32853923_32966845 | 32905759 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02257.hp2 |
a0005a0020 | a0005c0035a0020c0025 | a0005c0035t0001a0020c0025t0001 | a0005c0035t0001g0095 a0020c0025t0001g0193 |
2 | 284 | 0.0070 | 18 | c.108 others(35): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EFCAB8_chr20_32853923_32966845 | 32935188 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 284 | 0.0035 | 18 | c.279 others(37): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EFCAB8_chr20_32853923_32966845 | 32935192 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0014 | a0014c0019 | a0014c0019t0005 | a0014c0019t0005g0232 | 1 | 284 | 0.0035 | 18 | c.279 others(37): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EFCC1_chr3_128996304_129045742 | 129027130 | A | AGGGGGTC others(11): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0222 | 1 | 354 | 0.0028 | 18 | c.981 others(35): Show |
EFCC1 | ENSG00000114654.8 | transcript | ENST00000683648.1 | protein_coding | 2/7 | chr3 | TogoVar | |||||||
EFEMP1_chr2_55860967_55928782 | 55865188 | A | AATATATA others(11): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG02818.hp1 HG02897.hp2 others(2): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0200 a0001c0001t0002g0277 a0001c0001t0005g0118 others(2): Show |
5 | 350 | 0.0143 | 18 | c.*18 others(29): Show |
EFEMP1 | ENSG00000115380.20 | transcript | ENST00000355426.8 | protein_coding | 778 | chr2 | TogoVar | |||||||
EFEMP1_chr2_55860967_55928782 | 55873066 | C | CCACACAC others(11): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0223 | 1 | 350 | 0.0029 | 18 | c.100 others(37): Show |
EFEMP1 | ENSG00000115380.20 | transcript | ENST00000355426.8 | protein_coding | 9/11 | chr2 | TogoVar | |||||||
EFEMP1_chr2_55860967_55928782 | 55875333 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0065 | 1 | 350 | 0.0029 | 18 | c.881 others(33): Show |
EFEMP1 | ENSG00000115380.20 | transcript | ENST00000355426.8 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
EFEMP1_chr2_55860967_55928782 | 55875365 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02280.hp2 HG02897.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0092 a0001c0001t0001g0099 a0001c0001t0001g0110 others(7): Show |
10 | 350 | 0.0286 | 18 | c.881 others(33): Show |
EFEMP1 | ENSG00000115380.20 | transcript | ENST00000355426.8 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
EFEMP1_chr2_55860967_55928782 | 55875365 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0128 | 1 | 350 | 0.0029 | 18 | c.881 others(33): Show |
EFEMP1 | ENSG00000115380.20 | transcript | ENST00000355426.8 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
EFHB_chr3_19874472_19939217 | 19892883 | A | AAATAAAA others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG01074.hp1 others(43): Show |
a0001a0002a0006others(4): Show | a0001c0028a0002c0002a0002c0003others(8): Show | a0001c0028t0002a0002c0002t0001a0002c0003t0001others(8): Show | a0001c0028t0002g0227 a0002c0002t0001g0078 a0002c0002t0001g0087 others(40): Show |
46 | 344 | 0.1337 | 18 | c.172 others(37): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 9/12 | chr3 | TogoVar | |||||||
EFHB_chr3_19874472_19939217 | 19908562 | A | AAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG02818.hp1 NA18522.hp2 |
a0008a0020 | a0008c0011a0020c0023 | a0008c0011t0001a0020c0023t0001 | a0008c0011t0001g0024 a0020c0023t0001g0019 |
2 | 344 | 0.0058 | 18 | c.128 others(37): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 5/12 | chr3 | TogoVar | |||||||
EFHB_chr3_19874472_19939217 | 19908568 | G | GAAAGAGA others(11): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01361.hp1 HG01943.hp1 |
a0002a0018 | a0002c0003a0018c0025 | a0002c0003t0001a0018c0025t0001 | a0002c0003t0001g0036 a0002c0003t0001g0037 a0018c0025t0001g0029 |
3 | 344 | 0.0087 | 18 | c.128 others(37): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 5/12 | chr3 | TogoVar | |||||||
EFHC1_chr6_52415342_52502198 | 52493365 | C | CATATATA others(11): Show |
3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG01255.hp2 HG01433.hp2 others(14): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0007a0001c0001t0044a0001c0001t0076others(1): Show | a0001c0001t0007g0007 a0001c0001t0007g0021 a0001c0001t0007g0040 others(12): Show |
17 | 396 | 0.0429 | 18 | c.*10 others(29): Show |
EFHC1 | ENSG00000096093.16 | transcript | ENST00000371068.11 | protein_coding | 11/11 | 1045 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EFHC2_chrX_44142872_44348672 | 44178129 | T | TCACACAC others(11): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02572.hp1 HG02735.hp1 others(5): Show |
a0002a0003a0006 | a0002c0002a0002c0008a0003c0003others(1): Show | a0002c0002t0002a0002c0008t0004a0003c0003t0002others(1): Show | a0002c0002t0002g0077 a0002c0002t0002g0079 a0002c0002t0002g0080 others(5): Show |
8 | 221 | 0.0362 | 18 | c.194 others(35): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | TogoVar | |||||||
EFHC2_chrX_44142872_44348672 | 44187135 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG01975.hp2 HG01981.hp2 HG02698.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0006a0002c0002t0007others(2): Show | a0001c0001t0002g0082 a0001c0001t0002g0096 a0001c0001t0002g0101 others(4): Show |
7 | 221 | 0.0317 | 18 | c.175 others(37): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | TogoVar | |||||||
EFHC2_chrX_44142872_44348672 | 44280030 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0006 | a0006c0007 | a0006c0007t0002 | a0006c0007t0002g0203 | 1 | 221 | 0.0045 | 18 | c.232 others(35): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | TogoVar | |||||||
EFHD1_chr2_232628604_232687776 | 232677207 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0319 | 1 | 382 | 0.0026 | 18 | c.586 others(35): Show |
EFHD1 | ENSG00000115468.13 | transcript | ENST00000264059.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EFL1_chr15_82125233_82267734 | 82211595 | G | GACACACA others(11): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02165.hp1 NA18963.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0108 a0002c0002t0001g0114 a0002c0002t0001g0338 others(1): Show |
4 | 368 | 0.0109 | 18 | c.175 others(37): Show |
EFL1 | ENSG00000140598.16 | transcript | ENST00000268206.12 | protein_coding | 15/19 | chr15 | TogoVar | |||||||
EFNA5_chr5_107371894_107675937 | 107448866 | T | TAAATAAA others(11): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00642.hp1 HG01981.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0028others(2): Show | a0001c0001t0001g0098 a0001c0001t0001g0124 a0001c0001t0004g0052 others(3): Show |
6 | 190 | 0.0316 | 18 | c.126 others(37): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
EFNB1_chrX_68824021_68847160 | 68832811 | C | CGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG01891.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0014a0001c0001t0019others(1): Show | a0001c0001t0013g0129 a0001c0001t0014g0040 a0001c0001t0019g0039 others(1): Show |
6 | 335 | 0.0179 | 18 | c.128 others(35): Show |
EFNB1 | ENSG00000090776.6 | transcript | ENST00000204961.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EFNB2_chr13_106484745_106540662 | 106509627 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0094 | 1 | 356 | 0.0028 | 18 | c.406 others(35): Show |
EFNB2 | ENSG00000125266.8 | transcript | ENST00000646441.1 | protein_coding | 2/4 | chr13 | TogoVar | |||||||
EFNB3_chr17_7700202_7716372 | 7714124 | C | CGTGTGTG others(11): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00609.hp2 others(32): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0002g0025 others(4): Show |
35 | 434 | 0.0807 | 18 | c.*45 others(29): Show |
EFNB3 | ENSG00000108947.5 | transcript | ENST00000226091.3 | protein_coding | 2753 | chr17 | TogoVar | |||||||
EFR3A_chr8_131899093_132018642 | 132010405 | G | GATATATA others(11): Show |
intron_variant | MODIFIER | HG02572.hp1 NA18978.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 a0001c0001t0001g0136 |
2 | 412 | 0.0049 | 18 | c.236 others(35): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EFR3A_chr8_131899093_132018642 | 132010407 | G | GATATATA others(11): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0244 | 1 | 412 | 0.0024 | 18 | c.236 others(35): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EFR3A_chr8_131899093_132018642 | 132013977 | A | AAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG01099.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0111 |
2 | 412 | 0.0049 | 18 | c.*30 others(29): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 336 | chr8 | TogoVar | |||||||
EFR3A_chr8_131899093_132018642 | 132018174 | C | CAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG02559.hp2 HG02895.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0013 | a0002c0002t0002g0241 a0002c0002t0002g0243 a0002c0002t0002g0245 others(5): Show |
8 | 412 | 0.0194 | 18 | c.*72 others(29): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 4533 | chr8 | TogoVar | |||||||
EFR3B_chr2_25037076_25164135 | 25046506 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02523.hp2 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0076 a0001c0001t0003g0077 |
2 | 306 | 0.0065 | 18 | c.7+4 others(31): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EFR3B_chr2_25037076_25164135 | 25080283 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00741.hp1 HG04199.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0006a0001c0003t0010 | a0001c0001t0001g0136 a0001c0003t0006g0119 a0001c0003t0010g0105 |
3 | 306 | 0.0098 | 18 | c.8-1 others(33): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EFR3B_chr2_25037076_25164135 | 25161599 | C | CGCTGCTG others(11): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0207 | 1 | 306 | 0.0033 | 18 | c.*72 others(29): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 2465 | chr2 | TogoVar | |||||||
EGFL6_chrX_13564601_13638575 | 13613157 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG02293.hp1 HG02723.hp2 HG03195.hp2 others(1): Show |
a0001a0005 | a0001c0007a0001c0008a0005c0013 | a0001c0007t0001a0001c0008t0001a0005c0013t0004 | a0001c0007t0001g0272 a0001c0008t0001g0048 a0001c0008t0001g0295 others(1): Show |
4 | 302 | 0.0133 | 18 | c.779 others(35): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EGFL6_chrX_13564601_13638575 | 13623377 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG01943.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0131 a0001c0001t0001g0220 a0001c0001t0001g0221 others(21): Show |
24 | 302 | 0.0795 | 18 | c.118 others(35): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EGFLAM_chr5_38253559_38470480 | 38336570 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01261.hp1 HG03041.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0007others(2): Show | a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0002g0144 others(3): Show |
6 | 190 | 0.0316 | 18 | c.98- others(31): Show |
EGFLAM | ENSG00000164318.18 | transcript | ENST00000322350.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
EGFLAM_chr5_38253559_38470480 | 38349773 | G | GCACACAC others(11): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0003 | a0003c0003 | a0003c0003t0022 | a0003c0003t0022g0069 | 1 | 190 | 0.0053 | 18 | c.292 others(33): Show |
EGFLAM | ENSG00000164318.18 | transcript | ENST00000322350.10 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
EGFLAM_chr5_38253559_38470480 | 38441593 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | NA18957.hp1 NA18962.hp2 NA18979.hp2 others(1): Show |
a0003a0004a0027 | a0003c0003a0004c0004a0027c0018 | a0003c0003t0008a0004c0004t0008a0027c0018t0025 | a0003c0003t0008g0058 a0004c0004t0008g0052 a0004c0004t0008g0165 others(1): Show |
4 | 190 | 0.0211 | 18 | c.246 others(37): Show |
EGFLAM | ENSG00000164318.18 | transcript | ENST00000322350.10 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
EGFR_chr7_55014017_55216628 | 55196178 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02818.hp1 NA19030.hp1 |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0003 | a0001c0001t0001g0247 a0001c0003t0001g0241 a0001c0004t0003g0118 |
3 | 250 | 0.0120 | 18 | c.270 others(37): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 22/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EGR3_chr8_22682659_22698480 | 22685400 | G | GGTGTGTG others(11): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 HG03516.hp1 HG03669.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0002t0003 | a0001c0001t0001g0001 a0001c0001t0006g0008 a0001c0002t0003g0003 |
4 | 374 | 0.0107 | 18 | c.*50 others(29): Show |
EGR3 | ENSG00000179388.9 | transcript | ENST00000317216.3 | protein_coding | 2258 | chr8 | TogoVar | |||||||
EHBP1_chr2_62700713_63051487 | 62820737 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0089 | 1 | 198 | 0.0051 | 18 | c.313 others(35): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 62879546 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0008 | 1 | 198 | 0.0051 | 18 | c.118 others(37): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 62894927 | A | AAGAGAGA others(11): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0187 | 1 | 198 | 0.0051 | 18 | c.118 others(39): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHD4_chr15_41890933_41977557 | 41949016 | C | CTATATAT others(11): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0004 | a0004c0010 | a0004c0010t0001 | a0004c0010t0001g0011 | 1 | 360 | 0.0028 | 18 | c.413 others(35): Show |
EHD4 | ENSG00000103966.11 | transcript | ENST00000220325.9 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
EHD4_chr15_41890933_41977557 | 41949051 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG03710.hp1 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0061 a0001c0001t0021g0082 |
2 | 360 | 0.0056 | 18 | c.413 others(35): Show |
EHD4 | ENSG00000103966.11 | transcript | ENST00000220325.9 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
EHF_chr11_34616093_34668288 | 34643329 | C | CCTGAATC others(11): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0136 | 1 | 410 | 0.0024 | 18 | c.97+ others(31): Show |
EHF | ENSG00000135373.13 | transcript | ENST00000257831.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EHHADH_chr3_185185624_185259049 | 185194800 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01168.hp1 HG01175.hp1 others(6): Show |
a0001a0013 | a0001c0001a0013c0015 | a0001c0001t0001a0013c0015t0009 | a0001c0001t0001g0026 a0001c0001t0001g0061 a0001c0001t0001g0096 others(6): Show |
9 | 348 | 0.0259 | 18 | c.911 others(35): Show |
EHHADH | ENSG00000113790.11 | transcript | ENST00000231887.8 | protein_coding | 6/6 | chr3 | TogoVar | |||||||
EHHADH_chr3_185185624_185259049 | 185228257 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 348 | 0.0029 | 18 | c.463 others(35): Show |
EHHADH | ENSG00000113790.11 | transcript | ENST00000231887.8 | protein_coding | 4/6 | chr3 | TogoVar |