regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EFCAB11_chr14_89789669_89959730 | 89835643 | T | TGTGTGTG | intron_variant | MODIFIER | HG01109.hp1 HG04204.hp2 NA18970.hp2 |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0004a0001c0002t0043a0002c0005t0003 | a0001c0001t0004g0145a0001c0002t0043g0001a0002c0005t0003g0253 | 3 | 284 | 0.0106 | 7 | c.411 others(26): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | ||||||
EFCAB11_chr14_89789669_89959730 | 89925648 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00673.hp1 HG01074.hp1 others(61): Show |
a0001a0005 | a0001c0002a0001c0009a0005c0011 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(17): Show | a0001c0002t0001g0186a0001c0002t0001g0188a0001c0002t0001g0194others(61): Show | 64 | 284 | 0.2254 | 7 | c.410 others(24): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | ||||||
EFCAB13_chr17_47318955_47446312 | 47325941 | T | TAAACAAA | intron_variant | MODIFIER | NA18943.hp1 NA18946.hp2 NA18962.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0081a0001c0001t0001g0111a0001c0001t0001g0122others(13): Show | 16 | 356 | 0.0449 | 7 | c.-24 others(24): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EFCAB13_chr17_47318955_47446312 | 47421629 | A | AAAAAAAT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG02135.hp2 others(10): Show |
a0006a0008a0016 | a0006c0007a0008c0011a0016c0020 | a0006c0007t0001a0008c0011t0001a0016c0020t0001 | a0006c0007t0001g0059a0006c0007t0001g0060a0006c0007t0001g0062others(10): Show | 13 | 356 | 0.0365 | 7 | c.249 others(26): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 23/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EFCAB14_chr1_46670159_46724114 | 46679599 | G | GTTTTTTT | intron_variant | MODIFIER | HG01346.hp1 HG01496.hp2 HG01928.hp2 others(4): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0003a0004c0007t0003 | a0001c0001t0003g0031a0001c0001t0003g0199a0001c0001t0003g0203others(3): Show | 7 | 374 | 0.0187 | 7 | c.131 others(24): Show |
EFCAB14 | ENSG00000159658.15 | transcript | ENST00000371933.8 | protein_coding | 10/10 | chr1 | TogoVar | ||||||
EFCAB2_chr1_244964682_245092837 | 245035667 | G | GACCAGTC | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(77): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0002t0002others(1): Show | a0001c0001t0001g0120a0001c0001t0001g0123a0001c0001t0008g0288others(77): Show | 80 | 290 | 0.2759 | 7 | c.110 others(26): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EFCAB2_chr1_244964682_245092837 | 245056935 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(102): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0120a0001c0001t0001g0123a0001c0001t0001g0155others(102): Show | 105 | 290 | 0.3621 | 7 | c.111 others(24): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EFCAB5_chr17_29936634_30113452 | 29986637 | A | ATTTTTTT | intron_variant | MODIFIER | HG00741.hp1 HG01243.hp2 HG02451.hp1 others(6): Show |
a0003a0005 | a0003c0003a0005c0007 | a0003c0003t0002a0005c0007t0002 | a0003c0003t0002g0134a0003c0003t0002g0136a0003c0003t0002g0137others(6): Show | 9 | 248 | 0.0363 | 7 | c.768 others(24): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EFCAB5_chr17_29936634_30113452 | 30080645 | T | TCATATAA | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131 | 3 | 248 | 0.0121 | 7 | c.319 others(24): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EFCAB5_chr17_29936634_30113452 | 30108563 | C | CTTTTTAA | downstream_gene_variant | MODIFIER | HG02572.hp2 HG03098.hp2 HG03540.hp1 others(1): Show |
a0002a0003 | a0002c0017a0003c0003 | a0002c0017t0002a0003c0003t0002 | a0002c0017t0002g0035a0003c0003t0002g0135a0003c0003t0002g0136others(1): Show | 4 | 248 | 0.0161 | 7 | c.*53 others(16): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 112 | chr17 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43586340 | A | ATTTTTTT | intron_variant | MODIFIER | HG01346.hp1 HG02572.hp1 HG03041.hp2 others(3): Show |
a0006a0007a0021others(2): Show | a0006c0006a0007c0014a0021c0036others(2): Show | a0006c0006t0001a0007c0014t0002a0021c0036t0001others(2): Show | a0006c0006t0001g0267a0006c0006t0001g0268a0007c0014t0002g0017others(3): Show | 6 | 290 | 0.0207 | 7 | c.303 others(26): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 24/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43675458 | G | GATATAAT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(176): Show |
a0001a0003a0006others(16): Show | a0001c0001a0001c0013a0001c0023others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0027others(176): Show | 179 | 290 | 0.6172 | 7 | c.141 others(26): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 13/31 | chr22 | TogoVar | ||||||
EFEMP1_chr2_55860967_55928782 | 55878494 | G | GCTCAACT | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02922.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0220a0001c0001t0001g0231a0001c0001t0002g0278others(2): Show | 5 | 350 | 0.0143 | 7 | c.641 others(22): Show |
EFEMP1 | ENSG00000115380.20 | transcript | ENST00000355426.8 | protein_coding | 6/11 | chr2 | TogoVar | ||||||
EFHB_chr3_19874472_19939217 | 19926662 | C | CTTTTTTA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(223): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0026a0002c0002others(30): Show | a0001c0001t0002a0001c0026t0001a0002c0002t0001others(36): Show | a0001c0001t0002g0303a0001c0001t0002g0310a0001c0026t0001g0033others(214): Show | 226 | 344 | 0.6570 | 7 | c.790 others(24): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 1/12 | chr3 | TogoVar | ||||||
EFHB_chr3_19874472_19939217 | 19926662 | C | CTTTTTTG | intron_variant | MODIFIER | HG02258.hp2 HG02486.hp1 HG02818.hp2 others(1): Show |
a0006a0013 | a0006c0027a0013c0015 | a0006c0027t0002a0013c0015t0002 | a0006c0027t0002g0314a0013c0015t0002g0017a0013c0015t0002g0324 | 4 | 344 | 0.0116 | 7 | c.790 others(24): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 1/12 | chr3 | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44251597 | T | TAAAAAAA | intron_variant | MODIFIER | HG01071.hp1 HG03017.hp1 HG03942.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0045a0001c0001t0001g0145a0001c0001t0001g0180others(1): Show | 4 | 221 | 0.0181 | 7 | c.607 others(24): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44262526 | A | AAAGAAAG | intron_variant | MODIFIER | HG03130.hp1 | a0006 | a0006c0007 | a0006c0007t0002 | a0006c0007t0002g0203 | 1 | 221 | 0.0045 | 7 | c.383 others(24): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44262531 | A | AAGAAAAG | intron_variant | MODIFIER | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(36): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0008others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(9): Show | a0001c0001t0001g0012a0001c0001t0001g0194a0001c0001t0006g0078others(36): Show | 39 | 221 | 0.1765 | 7 | c.383 others(24): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44283532 | C | CTTTTTTT | intron_variant | MODIFIER | HG01358.hp1 NA18974.hp1 |
a0002a0013 | a0002c0002a0013c0014 | a0002c0002t0002a0013c0014t0023 | a0002c0002t0002g0164a0013c0014t0023g0191 | 2 | 221 | 0.0091 | 7 | c.232 others(26): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44339191 | C | CAAAAAAA | intron_variant | MODIFIER | HG01169.hp1 HG02615.hp1 HG03579.hp1 others(1): Show |
a0001a0009 | a0001c0001a0009c0011 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0002g0038a0001c0001t0003g0037a0001c0001t0006g0036others(1): Show | 4 | 221 | 0.0181 | 7 | c.42+ others(22): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44347996 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0011 | 1 | 221 | 0.0045 | 7 | c.-44 others(18): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4325 | chrX | TogoVar | ||||||
EFNA2_chr19_1280873_1306431 | 1282423 | G | GGAAGGGA | upstream_gene_variant | MODIFIER | HG01981.hp1 HG02004.hp1 HG02897.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0010others(3): Show | a0001c0001t0003g0006a0001c0001t0003g0064a0001c0001t0004g0002others(4): Show | 7 | 294 | 0.0238 | 7 | c.-37 others(18): Show |
EFNA2 | ENSG00000099617.4 | transcript | ENST00000215368.4 | protein_coding | 3449 | chr19 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107435315 | C | CTTTTTTT | intron_variant | MODIFIER | HG02559.hp1 HG02922.hp1 NA20129.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0066a0001c0001t0071others(2): Show | a0001c0001t0003g0130a0001c0001t0066g0166a0001c0001t0071g0083others(2): Show | 5 | 190 | 0.0263 | 7 | c.126 others(24): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107591969 | T | TATATATA | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG00741.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0090a0001c0001t0003g0066a0001c0001t0003g0126others(18): Show | 21 | 190 | 0.1105 | 7 | c.125 others(26): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFR3A_chr8_131899093_132018642 | 132013969 | T | TAAAAAAA | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG00738.hp2 others(10): Show |
a0001a0009 | a0001c0001a0001c0003a0009c0011 | a0001c0001t0001a0001c0003t0003a0009c0011t0001 | a0001c0001t0001g0108a0001c0001t0001g0109a0001c0001t0001g0123others(10): Show | 13 | 412 | 0.0316 | 7 | c.*30 others(18): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 328 | chr8 | TogoVar | ||||||
EFR3A_chr8_131899093_132018642 | 132018174 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(68): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0018a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0020others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0015others(65): Show | 71 | 412 | 0.1723 | 7 | c.*72 others(18): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 4533 | chr8 | TogoVar | ||||||
EFR3B_chr2_25037076_25164135 | 25039757 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG01346.hp2 HG01891.hp2 HG02280.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0048a0001c0002t0001others(3): Show | a0001c0001t0005g0161a0001c0001t0048g0218a0001c0002t0001g0173others(4): Show | 7 | 306 | 0.0229 | 7 | c.-25 others(18): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 2318 | chr2 | TogoVar | ||||||
EFR3B_chr2_25037076_25164135 | 25062918 | A | ATTTTTCT | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(59): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(15): Show | a0001c0001t0002g0067a0001c0001t0002g0091a0001c0001t0002g0120others(59): Show | 62 | 306 | 0.2026 | 7 | c.7+2 others(22): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EFR3B_chr2_25037076_25164135 | 25094282 | C | CAAAAAAA | intron_variant | MODIFIER | HG01884.hp1 HG02738.hp1 HG02897.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0015others(3): Show | a0001c0001t0001g0186a0001c0001t0005g0195a0001c0001t0005g0201others(4): Show | 7 | 306 | 0.0229 | 7 | c.212 others(24): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EFTUD2_chr17_44844948_44904445 | 44876855 | C | CAAAAAAA | intron_variant | MODIFIER | HG01169.hp1 HG02129.hp2 HG02559.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0311a0001c0001t0003g0297a0001c0001t0003g0309others(5): Show | 8 | 370 | 0.0216 | 7 | c.703 others(22): Show |
EFTUD2 | ENSG00000108883.13 | transcript | ENST00000426333.7 | protein_coding | 9/27 | chr17 | TogoVar | ||||||
EGFL6_chrX_13564601_13638575 | 13571107 | C | CCCCCCCA | intron_variant | MODIFIER | NA18994.hp1 NA19058.hp1 |
a0001a0011 | a0001c0001a0011c0023 | a0001c0001t0002a0011c0023t0001 | a0001c0001t0002g0177a0011c0023t0001g0176 | 2 | 302 | 0.0066 | 7 | c.74+ others(22): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EGFL6_chrX_13564601_13638575 | 13571113 | A | ACCCCCCC | intron_variant | MODIFIER | HG02647.hp1 | a0004 | a0004c0022 | a0004c0022t0001 | a0004c0022t0001g0175 | 1 | 302 | 0.0033 | 7 | c.74+ others(22): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EGFL6_chrX_13564601_13638575 | 13600274 | T | TTTCTTTC | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02280.hp2 others(4): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0003a0002c0026others(3): Show | a0001c0001t0003a0002c0003t0004a0002c0026t0004others(4): Show | a0001c0001t0003g0079a0002c0003t0004g0160a0002c0026t0004g0029others(4): Show | 7 | 302 | 0.0232 | 7 | c.400 others(22): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EGFL6_chrX_13564601_13638575 | 13623377 | G | GTTTTTTT | intron_variant | MODIFIER | HG02647.hp1 HG03041.hp2 |
a0004 | a0004c0010a0004c0022 | a0004c0010t0001a0004c0022t0001 | a0004c0010t0001g0241a0004c0022t0001g0175 | 2 | 302 | 0.0066 | 7 | c.118 others(24): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EGFL6_chrX_13564601_13638575 | 13623379 | T | TTTTTTTG | intron_variant | MODIFIER | HG02559.hp2 | a0007 | a0007c0024 | a0007c0024t0001 | a0007c0024t0001g0040 | 1 | 302 | 0.0033 | 7 | c.118 others(24): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EGFL6_chrX_13564601_13638575 | 13625885 | C | CAAAAAAA | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02559.hp1 others(5): Show |
a0001a0002a0009 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0001a0001c0005t0001a0002c0003t0004others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0149a0001c0001t0001g0278others(5): Show | 8 | 302 | 0.0265 | 7 | c.128 others(26): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EGFR_chr7_55014017_55216628 | 55027991 | A | ATATATAT | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01070.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0026a0001c0004t0008a0001c0005t0006others(5): Show | a0001c0001t0026g0121a0001c0004t0008g0073a0001c0004t0008g0074others(8): Show | 11 | 250 | 0.0440 | 7 | c.88+ others(22): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 1/27 | chr7 | TogoVar | ||||||
EGFR_chr7_55014017_55216628 | 55165729 | A | ACCTCGGC | intron_variant | MODIFIER | HG00639.hp1 HG01884.hp2 NA19043.hp1 |
a0001 | a0001c0022a0001c0034 | a0001c0022t0001a0001c0022t0054a0001c0034t0036 | a0001c0022t0001g0019a0001c0022t0054g0212a0001c0034t0036g0240 | 3 | 250 | 0.0120 | 7 | c.188 others(24): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EGF_chr4_109907883_110018766 | 109992170 | T | TAAAAAAA | intron_variant | MODIFIER | HG00735.hp2 HG02004.hp1 NA18956.hp1 others(10): Show |
a0001a0004a0005others(2): Show | a0001c0001a0004c0004a0005c0005others(2): Show | a0001c0001t0028a0004c0004t0003a0004c0004t0010others(3): Show | a0001c0001t0028g0242a0004c0004t0003g0008a0004c0004t0003g0272others(9): Show | 13 | 388 | 0.0335 | 7 | c.273 others(26): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EHBP1_chr2_62700713_63051487 | 62957641 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00621.hp1 HG00642.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0010t0001others(1): Show | a0001c0001t0001g0059a0001c0001t0001g0123a0001c0001t0001g0128others(18): Show | 21 | 198 | 0.1061 | 7 | c.246 others(26): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHBP1_chr2_62700713_63051487 | 63043920 | C | CTTTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG02015.hp2 HG02145.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0047a0001c0001t0002g0080a0001c0001t0002g0101others(5): Show | 8 | 198 | 0.0404 | 7 | c.327 others(26): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHD3_chr2_31229152_31274451 | 31243456 | C | CTTTTTTT | intron_variant | MODIFIER | HG01109.hp1 HG02145.hp2 HG02451.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0001t0020a0001c0002t0019others(1): Show | a0001c0001t0004g0248a0001c0001t0020g0247a0001c0002t0019g0025others(3): Show | 7 | 378 | 0.0185 | 7 | c.228 others(22): Show |
EHD3 | ENSG00000013016.16 | transcript | ENST00000322054.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHD3_chr2_31229152_31274451 | 31243460 | C | CTTTTTTT | intron_variant | MODIFIER | HG01496.hp2 HG01891.hp2 HG02004.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0025a0001c0001t0031others(1): Show | a0001c0001t0004g0297a0001c0001t0025g0289a0001c0001t0025g0310others(4): Show | 7 | 378 | 0.0185 | 7 | c.228 others(22): Show |
EHD3 | ENSG00000013016.16 | transcript | ENST00000322054.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHD3_chr2_31229152_31274451 | 31270016 | A | ATTTTTTT | downstream_gene_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG01106.hp2 others(21): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0002a0001c0001t0015a0001c0001t0022others(8): Show | a0001c0001t0002g0023a0001c0001t0002g0159a0001c0001t0002g0161others(21): Show | 24 | 378 | 0.0635 | 7 | c.*33 others(18): Show |
EHD3 | ENSG00000013016.16 | transcript | ENST00000322054.10 | protein_coding | 566 | chr2 | TogoVar | ||||||
EHF_chr11_34616093_34668288 | 34618637 | T | TATCTATC | upstream_gene_variant | MODIFIER | HG02647.hp2 HG02965.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0022a0001c0001t0054 | a0001c0001t0021g0328a0001c0001t0022g0327a0001c0001t0054g0310 | 3 | 410 | 0.0073 | 7 | c.-25 others(18): Show |
EHF | ENSG00000135373.13 | transcript | ENST00000257831.8 | protein_coding | 2455 | chr11 | TogoVar | ||||||
EIF1AX_chrX_20119525_20146838 | 20122369 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 278 | 0.0036 | 7 | c.*59 others(18): Show |
EIF1AX | ENSG00000173674.11 | transcript | ENST00000379607.10 | protein_coding | 2155 | chrX | TogoVar | ||||||
EIF1AX_chrX_20119525_20146838 | 20145729 | T | TTGCCCCC | upstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0044 | 1 | 278 | 0.0036 | 7 | c.-40 others(18): Show |
EIF1AX | ENSG00000173674.11 | transcript | ENST00000379607.10 | protein_coding | 3892 | chrX | TogoVar | ||||||
EIF2AK1_chr7_6017247_6064175 | 6056598 | G | GAAAAAAA | intron_variant | MODIFIER | HG00741.hp1 HG01358.hp2 HG02135.hp1 others(9): Show |
a0001a0002a0008 | a0001c0001a0002c0003a0008c0011 | a0001c0001t0001a0002c0003t0001a0008c0011t0024 | a0001c0001t0001g0293a0002c0003t0001g0234a0002c0003t0001g0235others(9): Show | 12 | 418 | 0.0287 | 7 | c.119 others(24): Show |
EIF2AK1 | ENSG00000086232.13 | transcript | ENST00000199389.11 | protein_coding | 1/14 | chr7 | TogoVar | ||||||
EIF2AK1_chr7_6017247_6064175 | 6056611 | A | ATATATAT | intron_variant | MODIFIER | HG00642.hp1 HG01928.hp2 HG01943.hp1 others(2): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0010a0002c0003t0001 | a0001c0002t0010g0008a0001c0002t0010g0205a0001c0002t0010g0206others(1): Show | 5 | 418 | 0.0120 | 7 | c.119 others(24): Show |
EIF2AK1 | ENSG00000086232.13 | transcript | ENST00000199389.11 | protein_coding | 1/14 | chr7 | TogoVar | ||||||
EIF2AK1_chr7_6017247_6064175 | 6056613 | A | AAATATAT | intron_variant | MODIFIER | HG01496.hp2 HG03471.hp1 HG03834.hp1 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0008 | a0001c0002t0001g0167a0001c0002t0001g0168a0001c0002t0001g0189others(9): Show | 13 | 418 | 0.0311 | 7 | c.119 others(24): Show |
EIF2AK1 | ENSG00000086232.13 | transcript | ENST00000199389.11 | protein_coding | 1/14 | chr7 | TogoVar |