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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EEFSEC_chr3_128148481_128413646 | 128247786 | AGAGGAGA others(2): Show |
A | intron_variant | MODIFIER | NA18960.hp1 NA18995.hp1 NA19055.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 others(1): Show |
4 | 270 | 0.0148 | -9 | c.524 others(24): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EEIG1_chr9_127935582_127985989 | 127961291 | ATGGGGCA others(2): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(251): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(29): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(178): Show |
254 | 340 | 0.7471 | -9 | c.147 others(26): Show |
EEIG1 | ENSG00000167106.12 | transcript | ENST00000373095.6 | protein_coding | 1/10 | chr9 | TogoVar | |||||||
EEIG2_chr1_108555100_108644322 | 108560122 | AGGCGGCG others(2): Show |
A | 5_prime_UTR_variant | MODIFIER | HG01361.hp2 HG01496.hp2 HG01928.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0029a0001c0001t0030 | a0001c0001t0002g0009 a0001c0001t0002g0192 a0001c0001t0002g0193 others(21): Show |
25 | 221 | 0.1131 | -9 | c.-29 others(18): Show |
EEIG2 | ENSG00000162636.16 | transcript | ENST00000370035.8 | protein_coding | 1/11 | 285 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EEIG2_chr1_108555100_108644322 | 108580681 | AAATTCCC others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG01069.hp2 HG01070.hp1 others(85): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 others(80): Show |
88 | 270 | 0.3259 | -9 | c.138 others(28): Show |
EEIG2 | ENSG00000162636.16 | transcript | ENST00000370035.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EFCAB12_chr3_129396321_129433636 | 129400120 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01515.hp1 others(11): Show |
a0001a0005a0012others(1): Show | a0001c0001a0005c0006a0012c0012others(1): Show | a0001c0001t0001a0005c0006t0001a0012c0012t0001others(1): Show | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0136 others(9): Show |
14 | 101 | 0.1386 | -9 | c.*14 others(20): Show |
EFCAB12 | ENSG00000172771.13 | transcript | ENST00000505956.6 | protein_coding | 1200 | chr3 | TogoVar | |||||||
EFCAB5_chr17_29936634_30113452 | 30026961 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG01099.hp2 HG01123.hp1 others(27): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0001 | a0001c0001t0001g0122 a0001c0001t0001g0146 a0001c0001t0001g0147 others(27): Show |
30 | 48 | 0.6250 | -9 | c.104 others(28): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43599509 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00597.hp1 others(24): Show |
a0001a0002a0003others(3): Show | a0001c0013a0001c0035a0002c0002others(5): Show | a0001c0013t0001a0001c0035t0001a0002c0002t0001others(6): Show | a0001c0013t0001g0187 a0001c0035t0001g0235 a0002c0002t0001g0141 others(24): Show |
27 | 32 | 0.8438 | -9 | c.287 others(26): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 23/31 | chr22 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43623914 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG01175.hp2 HG02293.hp2 HG02818.hp2 others(13): Show |
a0001a0004a0032 | a0001c0001a0001c0027a0004c0012others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0027t0001others(2): Show | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 others(13): Show |
16 | 288 | 0.0556 | -9 | c.246 others(28): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 20/31 | chr22 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43662159 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG01433.hp1 HG02004.hp1 HG02293.hp1 others(5): Show |
a0001a0003a0006others(1): Show | a0001c0001a0003c0003a0006c0006others(1): Show | a0001c0001t0001a0003c0003t0001a0006c0006t0001others(2): Show | a0001c0001t0001g0087 a0003c0003t0001g0184 a0006c0006t0001g0279 others(5): Show |
8 | 83 | 0.0964 | -9 | c.198 others(28): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 17/31 | chr22 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43690343 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00639.hp2 others(16): Show |
a0006a0011a0026 | a0006c0006a0011c0016a0026c0042 | a0006c0006t0001a0011c0016t0001a0011c0016t0006others(1): Show | a0006c0006t0001g0163 a0006c0006t0001g0257 a0006c0006t0001g0265 others(16): Show |
19 | 133 | 0.1429 | -9 | c.103 others(28): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 10/31 | chr22 | TogoVar | |||||||
EFCAB8_chr20_32853923_32966845 | 32935188 | CTTTCTTT others(2): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG02615.hp1 HG02922.hp1 others(4): Show |
a0002a0007a0021 | a0002c0011a0007c0006a0007c0030others(1): Show | a0002c0011t0001a0007c0006t0004a0007c0030t0004others(1): Show | a0002c0011t0001g0102 a0002c0011t0001g0246 a0002c0011t0001g0248 others(4): Show |
7 | 171 | 0.0409 | -9 | c.279 others(28): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EFCAB9_chr5_172189172_172208454 | 172202332 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02572.hp1 HG02572.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0157 |
6 | 102 | 0.0588 | -9 | c.463 others(24): Show |
EFCAB9 | ENSG00000214360.5 | transcript | ENST00000398186.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
EFCC1_chr3_128996304_129045742 | 129025748 | CCCCAGGG others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(42): Show |
a0001a0003a0010 | a0001c0001a0003c0003a0010c0010 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0001g0023 a0001c0001t0001g0042 a0001c0001t0001g0114 others(28): Show |
45 | 352 | 0.1278 | -9 | c.981 others(26): Show |
EFCC1 | ENSG00000114654.8 | transcript | ENST00000683648.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44207792 | TCAACAAC others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01192.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 a0001c0001t0001g0151 |
2 | 219 | 0.0091 | -9 | c.175 others(30): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | TogoVar | |||||||
EFHD1_chr2_232628604_232687776 | 232631698 | AAAAAAAA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02622.hp1 HG02630.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0001g0265 a0001c0001t0003g0266 a0001c0001t0003g0268 others(15): Show |
18 | 380 | 0.0474 | -9 | c.-20 others(20): Show |
EFHD1 | ENSG00000115468.13 | transcript | ENST00000264059.8 | protein_coding | 1905 | chr2 | TogoVar | |||||||
EFHD2_chr1_15404888_15435339 | 15433203 | GACGGATC others(2): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(163): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0042 others(128): Show |
166 | 422 | 0.3934 | -9 | c.*44 others(20): Show |
EFHD2 | ENSG00000142634.13 | transcript | ENST00000375980.9 | protein_coding | 2865 | chr1 | TogoVar | |||||||
EFNA2_chr19_1280873_1306431 | 1300241 | ATTTTTTT others(2): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00544.hp1 HG01256.hp1 HG01952.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0027a0001c0001t0053others(4): Show | a0001c0001t0019g0026 a0001c0001t0019g0068 a0001c0001t0019g0127 others(7): Show |
10 | 58 | 0.1724 | -9 | c.*32 others(18): Show |
EFNA2 | ENSG00000099617.4 | transcript | ENST00000215368.4 | protein_coding | 4/4 | 323 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EFNA5_chr5_107371894_107675937 | 107384768 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG03471.hp2 HG03486.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0039a0001c0001t0040a0001c0001t0041others(2): Show | a0001c0001t0039g0172 a0001c0001t0040g0007 a0001c0001t0041g0171 others(2): Show |
5 | 62 | 0.0806 | -9 | c.565 others(26): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 4/4 | chr5 | TogoVar | |||||||
EFNB2_chr13_106484745_106540662 | 106523788 | GAGTCTTC others(2): Show |
G | intron_variant | MODIFIER | NA18960.hp1 NA18962.hp2 NA18968.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0002g0195 |
3 | 354 | 0.0085 | -9 | c.123 others(28): Show |
EFNB2 | ENSG00000125266.8 | transcript | ENST00000646441.1 | protein_coding | 1/4 | chr13 | TogoVar | |||||||
EFR3A_chr8_131899093_132018642 | 131986388 | GTCATTTA others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(148): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0003a0001c0018others(3): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0020others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 others(139): Show |
151 | 410 | 0.3683 | -9 | c.193 others(26): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EFR3B_chr2_25037076_25164135 | 25039757 | ATTTTTTT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(86): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0155 a0001c0001t0001g0261 a0001c0001t0002g0001 others(86): Show |
89 | 119 | 0.7479 | -9 | c.-25 others(20): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 2318 | chr2 | TogoVar | |||||||
EFR3B_chr2_25037076_25164135 | 25041238 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG03491.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0042a0001c0002t0004others(3): Show | a0001c0001t0003g0073 a0001c0001t0003g0076 a0001c0001t0003g0079 others(6): Show |
9 | 12 | 0.7500 | -9 | c.-10 others(20): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 837 | chr2 | TogoVar | |||||||
EFR3B_chr2_25037076_25164135 | 25128960 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00544.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0007 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(6): Show | a0001c0001t0003g0072 a0001c0001t0003g0079 a0001c0001t0003g0080 others(18): Show |
21 | 26 | 0.8077 | -9 | c.635 others(24): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EGFR_chr7_55014017_55216628 | 55135840 | AATGTATT others(2): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG01993.hp1 others(11): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0022a0001c0001t0028others(10): Show | a0001c0001t0001g0245 a0001c0001t0022g0014 a0001c0001t0022g0246 others(11): Show |
14 | 248 | 0.0565 | -9 | c.89- others(24): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 1/27 | chr7 | TogoVar | |||||||
EGFR_chr7_55014017_55216628 | 55203721 | GACACACC others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00642.hp2 others(46): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0003a0001c0004t0003a0001c0004t0006others(26): Show | a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0076 others(45): Show |
49 | 248 | 0.1976 | -9 | c.327 others(28): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EGLN1_chr1_231358756_231427287 | 231383057 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01943.hp2 HG02717.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0123 a0001c0001t0001g0155 a0001c0001t0001g0159 others(3): Show |
6 | 105 | 0.0571 | -9 | c.892 others(26): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
EGR4_chr2_73285929_73298548 | 73290909 | AGCTTACA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02622.hp1 HG02647.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0003 | a0001c0001t0003g0004 a0001c0004t0003g0008 |
5 | 356 | 0.0140 | -9 | c.*53 others(18): Show |
EGR4 | ENSG00000135625.8 | transcript | ENST00000436467.4 | protein_coding | 19 | chr2 | TogoVar | |||||||
EHBP1L1_chr11_65571053_65597650 | 65574282 | ACCCCCTC others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00609.hp2 others(45): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0003a0001c0010others(7): Show | a0001c0002t0002a0001c0003t0001a0001c0003t0002others(9): Show | a0001c0002t0002g0022 a0001c0002t0002g0136 a0001c0003t0001g0075 others(23): Show |
48 | 409 | 0.1174 | -9 | c.-20 others(20): Show |
EHBP1L1 | ENSG00000173442.13 | transcript | ENST00000309295.9 | protein_coding | 1770 | chr11 | TogoVar | |||||||
EHD2_chr19_47708422_47748134 | 47724981 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00642.hp1 HG00738.hp1 others(79): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0013a0001c0002t0002others(14): Show | a0001c0001t0001g0235 a0001c0001t0001g0303 a0001c0001t0001g0347 others(76): Show |
82 | 85 | 0.9647 | -9 | c.503 others(24): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EHD3_chr2_31229152_31274451 | 31245549 | ATATATTT others(2): Show |
A | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 HG02257.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0026 others(8): Show |
13 | 354 | 0.0367 | -9 | c.404 others(26): Show |
EHD3 | ENSG00000013016.16 | transcript | ENST00000322054.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHHADH_chr3_185185624_185259049 | 185213903 | GAAAGAGA others(2): Show |
G | intron_variant | MODIFIER | HG01074.hp1 HG01074.hp2 HG01109.hp2 others(31): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0002c0004others(4): Show | a0001c0001t0003a0002c0002t0007a0002c0004t0003others(6): Show | a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 others(31): Show |
34 | 346 | 0.0983 | -9 | c.568 others(26): Show |
EHHADH | ENSG00000113790.11 | transcript | ENST00000231887.8 | protein_coding | 5/6 | chr3 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137634868 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02486.hp2 HG02809.hp2 others(2): Show |
a0001 | a0001c0006a0001c0008a0001c0020 | a0001c0006t0001a0001c0008t0001a0001c0020t0003 | a0001c0006t0001g0146 a0001c0006t0001g0147 a0001c0006t0001g0148 others(2): Show |
5 | 87 | 0.0575 | -9 | c.21+ others(26): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137768529 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01192.hp2 HG01361.hp1 others(4): Show |
a0001 | a0001c0002a0001c0005a0001c0018 | a0001c0002t0001a0001c0005t0001a0001c0018t0001 | a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0005t0001g0072 others(4): Show |
7 | 25 | 0.2800 | -9 | c.164 others(28): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137780831 | CCGAGACG others(2): Show |
C | intron_variant | MODIFIER | HG01361.hp1 HG02809.hp2 |
a0001 | a0001c0005a0001c0008 | a0001c0005t0001a0001c0008t0001 | a0001c0005t0001g0072 a0001c0008t0001g0150 |
2 | 168 | 0.0119 | -9 | c.227 others(28): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 14/26 | chr9 | TogoVar | |||||||
EI24_chr11_125564477_125589684 | 125584229 | CAAAAAAA others(2): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00609.hp1 HG00642.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 a0001c0001t0004g0004 a0001c0001t0004g0007 others(8): Show |
34 | 51 | 0.6667 | -9 | c.*57 others(18): Show |
EI24 | ENSG00000149547.15 | transcript | ENST00000278903.11 | protein_coding | 11/11 | 571 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EIF1AD_chr11_65991545_66007157 | 65997326 | CAAAAAAA others(2): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00673.hp1 HG01891.hp1 HG02074.hp2 others(28): Show |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0009a0002c0002t0016others(2): Show | a0002c0002t0005g0004 a0002c0002t0005g0014 a0002c0002t0005g0054 others(5): Show |
31 | 287 | 0.1080 | -9 | c.*12 others(20): Show |
EIF1AD | ENSG00000175376.9 | transcript | ENST00000533544.6 | protein_coding | 6/6 | 1264 | chr11 | TogoVar | ||||||
EIF1AX_chrX_20119525_20146838 | 20119722 | TAAAAAAA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01106.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0002t0005 | a0001c0001t0002g0108 a0001c0001t0005g0008 a0001c0002t0005g0037 |
9 | 148 | 0.0608 | -9 | c.*85 others(20): Show |
EIF1AX | ENSG00000173674.11 | transcript | ENST00000379607.10 | protein_coding | 4802 | chrX | TogoVar | |||||||
EIF1AY_chrY_20570776_20598154 | 20590471 | TAAAAATA others(2): Show |
T | intron_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 131 | 0.0076 | -9 | c.429 others(24): Show |
EIF1AY | ENSG00000198692.10 | transcript | ENST00000361365.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
EIF2AK2_chr2_37094210_37161980 | 37111879 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02970.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0030a0001c0001t0034a0001c0001t0035 | a0001c0001t0030g0300 a0001c0001t0034g0021 a0001c0001t0035g0022 |
3 | 268 | 0.0112 | -9 | c.137 others(28): Show |
EIF2AK2 | ENSG00000055332.19 | transcript | ENST00000233057.9 | protein_coding | 14/16 | chr2 | TogoVar | |||||||
EIF2AK2_chr2_37094210_37161980 | 37156910 | GCGCCGCC others(2): Show |
G | 5_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00673.hp2 HG00738.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0001t0014a0001c0001t0032others(9): Show | a0001c0001t0013g0302 a0001c0001t0013g0303 a0001c0001t0013g0304 others(17): Show |
20 | 287 | 0.0697 | -9 | c.-19 others(18): Show |
EIF2AK2 | ENSG00000055332.19 | transcript | ENST00000233057.9 | protein_coding | 1/17 | 9105 | chr2 | TogoVar | ||||||
EIF2AK2_chr2_37094210_37161980 | 37161246 | GAGAAAGA others(2): Show |
G | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG02602.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0014a0001c0001t0025 | a0001c0001t0013g0302 a0001c0001t0013g0303 a0001c0001t0014g0010 others(2): Show |
5 | 317 | 0.0158 | -9 | c.-45 others(20): Show |
EIF2AK2 | ENSG00000055332.19 | transcript | ENST00000233057.9 | protein_coding | 4267 | chr2 | TogoVar | |||||||
EIF2B3_chr1_44845522_44991595 | 44937883 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00621.hp2 HG00642.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0004 | a0001c0001t0001g0291 a0001c0002t0001g0139 a0001c0002t0001g0140 others(17): Show |
20 | 54 | 0.3704 | -9 | c.454 others(26): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 4/11 | chr1 | TogoVar | |||||||
EIF2B3_chr1_44845522_44991595 | 44978621 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG02055.hp2 HG03942.hp2 others(3): Show |
a0001a0002 | a0001c0002a0002c0006 | a0001c0002t0001a0002c0006t0001 | a0001c0002t0001g0162 a0001c0002t0001g0170 a0001c0002t0001g0171 others(3): Show |
6 | 32 | 0.1875 | -9 | c.149 others(24): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 2/11 | chr1 | TogoVar | |||||||
EIF2D_chr1_206586642_206617465 | 206612944 | CAAAATAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01123.hp2 HG02074.hp2 others(24): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0005 a0001c0001t0001g0054 a0001c0001t0001g0196 others(11): Show |
27 | 419 | 0.0644 | -9 | c.-61 others(18): Show |
EIF2D | ENSG00000143486.16 | transcript | ENST00000271764.7 | protein_coding | 480 | chr1 | TogoVar | |||||||
EIF2D_chr1_206586642_206617465 | 206612949 | TAAAAAAA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00558.hp2 HG01358.hp2 HG01884.hp2 others(44): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0015 others(18): Show |
47 | 131 | 0.3588 | -9 | c.-61 others(18): Show |
EIF2D | ENSG00000143486.16 | transcript | ENST00000271764.7 | protein_coding | 485 | chr1 | TogoVar | |||||||
EIF3B_chr7_2349827_2385745 | 2367825 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG01433.hp2 HG02080.hp1 others(6): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0007 | a0001c0001t0001a0001c0003t0001a0005c0007t0001 | a0001c0001t0001g0001 a0001c0001t0001g0069 a0001c0001t0001g0086 others(6): Show |
9 | 40 | 0.2250 | -9 | c.140 others(26): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EIF3D_chr22_36505855_36534166 | 36518494 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00642.hp1 others(73): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0013others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0013t0001others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0011 others(46): Show |
76 | 274 | 0.2774 | -9 | c.859 others(24): Show |
EIF3D | ENSG00000100353.18 | transcript | ENST00000216190.13 | protein_coding | 9/14 | chr22 | TogoVar | |||||||
EIF3D_chr22_36505855_36534166 | 36518616 | AAAGAGTG others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00642.hp1 others(25): Show |
a0001 | a0001c0001a0001c0003a0001c0013 | a0001c0001t0001a0001c0003t0001a0001c0013t0001 | a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0039 others(18): Show |
28 | 387 | 0.0724 | -9 | c.859 others(24): Show |
EIF3D | ENSG00000100353.18 | transcript | ENST00000216190.13 | protein_coding | 9/14 | chr22 | TogoVar | |||||||
EIF3H_chr8_116637130_116760823 | 116638430 | GTTTTTTT others(2): Show |
G | downstream_gene_variant | MODIFIER | HG01261.hp1 HG01884.hp1 HG02109.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0015 | a0001c0001t0005g0003 a0001c0001t0007g0005 a0001c0001t0007g0253 others(9): Show |
12 | 61 | 0.1967 | -9 | c.*65 others(20): Show |
EIF3H | ENSG00000147677.12 | transcript | ENST00000521861.6 | protein_coding | 3699 | chr8 | TogoVar | |||||||
EIF3J_chr15_44532147_44567803 | 44540259 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG02040.hp2 HG02155.hp1 HG02523.hp1 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0002c0002t0003 | a0001c0001t0002g0021 a0001c0001t0002g0199 a0001c0001t0002g0201 others(14): Show |
20 | 286 | 0.0699 | -9 | c.147 others(26): Show |
EIF3J | ENSG00000104131.13 | transcript | ENST00000261868.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |