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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ERBIN_chr5_65921575_66087546 | 66018466 | A | ATATATAT | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00609.hp2 others(66): Show |
a0001a0002a0009others(1): Show | a0001c0002a0002c0003a0009c0009others(1): Show | a0001c0002t0002a0002c0003t0002a0002c0003t0003others(4): Show | a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0033 others(66): Show |
69 | 289 | 0.2388 | 7 | c.534 others(24): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 7/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERBIN_chr5_65921575_66087546 | 66018480 | T | TAATATAA | intron_variant | MODIFIER | HG02559.hp2 HG02615.hp1 HG02622.hp1 |
a0001 | a0001c0007 | a0001c0007t0012 | a0001c0007t0012g0217 a0001c0007t0012g0218 a0001c0007t0012g0219 |
3 | 231 | 0.0130 | 7 | c.534 others(24): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ERBIN_chr5_65921575_66087546 | 66018480 | T | TTATATAA | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00621.hp2 others(42): Show |
a0001a0003a0011others(2): Show | a0001c0001a0001c0002a0001c0022others(5): Show | a0001c0001t0001a0001c0001t0009a0001c0002t0002others(11): Show | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0121 others(42): Show |
45 | 273 | 0.1648 | 7 | c.534 others(24): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 7/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERBIN_chr5_65921575_66087546 | 66018506 | T | TTATATAA | intron_variant | MODIFIER | HG02145.hp2 HG03540.hp1 HG04115.hp2 others(1): Show |
a0001a0014 | a0001c0001a0014c0018 | a0001c0001t0006a0001c0001t0013a0001c0001t0029others(1): Show | a0001c0001t0006g0154 a0001c0001t0013g0102 a0001c0001t0029g0091 others(1): Show |
4 | 205 | 0.0195 | 7 | c.534 others(24): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 7/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERBIN_chr5_65921575_66087546 | 66053103 | A | AATTCCAC | intron_variant | MODIFIER | HG01167.hp2 HG02055.hp2 HG02109.hp1 others(19): Show |
a0001a0004 | a0001c0007a0004c0005a0004c0014others(1): Show | a0001c0007t0010a0004c0005t0004a0004c0005t0026others(2): Show | a0001c0007t0010g0160 a0001c0007t0010g0161 a0001c0007t0010g0162 others(19): Show |
22 | 304 | 0.0724 | 7 | c.208 others(24): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 20/25 | chr5 | TogoVar | |||||||
ERC1_chr12_986223_1500931 | 994066 | C | CAAAAAAA | intron_variant | MODIFIER | HG01243.hp1 HG01257.hp1 HG01891.hp1 others(6): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0008 | a0001c0001t0020a0001c0001t0053a0002c0002t0008others(4): Show | a0001c0001t0020g0141 a0001c0001t0053g0039 a0002c0002t0008g0135 others(6): Show |
9 | 24 | 0.3750 | 7 | c.-15 others(26): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1146308 | G | GTTTTTTT | intron_variant | MODIFIER | HG01993.hp2 HG02109.hp2 HG03195.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0009a0001c0001t0013others(2): Show | a0001c0001t0005g0161 a0001c0001t0009g0072 a0001c0001t0013g0041 others(2): Show |
5 | 55 | 0.0909 | 7 | c.173 others(26): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1219635 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG01952.hp2 HG02129.hp2 others(11): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0002g0044 a0001c0001t0003g0034 a0001c0001t0004g0024 others(11): Show |
14 | 75 | 0.1867 | 7 | c.235 others(28): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1225449 | T | TAAAACAC | intron_variant | MODIFIER | HG01517.hp1 HG02622.hp2 HG02976.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0081others(1): Show | a0001c0001t0001g0086 a0001c0001t0007g0066 a0001c0001t0081g0102 others(1): Show |
4 | 69 | 0.0580 | 7 | c.235 others(28): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1255621 | C | CTTTTTTT | intron_variant | MODIFIER | HG01256.hp2 HG01433.hp1 HG01981.hp1 others(4): Show |
a0001a0003a0009 | a0001c0001a0003c0004a0009c0009 | a0001c0001t0002a0001c0001t0005a0001c0001t0047others(3): Show | a0001c0001t0002g0028 a0001c0001t0005g0109 a0001c0001t0047g0121 others(4): Show |
7 | 87 | 0.0805 | 7 | c.248 others(26): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1303964 | A | AAAAAAAG | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00639.hp1 others(15): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0008 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0003g0034 a0001c0001t0004g0024 a0001c0001t0005g0118 others(15): Show |
18 | 126 | 0.1429 | 7 | c.278 others(28): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1356212 | A | AGTGTGTG | intron_variant | MODIFIER | HG02615.hp2 HG02976.hp2 HG03130.hp2 others(3): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0002a0007c0012others(1): Show | a0001c0001t0018a0001c0001t0019a0002c0002t0023others(3): Show | a0001c0001t0018g0074 a0001c0001t0019g0157 a0002c0002t0023g0058 others(3): Show |
6 | 102 | 0.0588 | 7 | c.278 others(28): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 15/18 | chr12 | TogoVar | |||||||
ERC1_chr12_986223_1500931 | 1386664 | A | AAAAAAAT | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02258.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0001c0001t0086a0002c0002t0028others(2): Show | a0001c0001t0009g0078 a0001c0001t0086g0095 a0002c0002t0028g0097 others(2): Show |
5 | 116 | 0.0431 | 7 | c.292 others(28): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1408427 | G | GTTGGTGA | intron_variant | MODIFIER | HG00408.hp1 HG00639.hp2 HG00741.hp1 others(73): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0013others(59): Show | a0001c0001t0005g0162 a0001c0001t0007g0066 a0001c0001t0013g0041 others(73): Show |
76 | 160 | 0.4750 | 7 | c.302 others(24): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 17/18 | chr12 | TogoVar | |||||||
ERC1_chr12_986223_1500931 | 1485197 | A | ATTTCTCT | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02257.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0011a0002c0002t0034a0002c0002t0037others(2): Show | a0002c0002t0011g0122 a0002c0002t0011g0124 a0002c0002t0011g0125 others(5): Show |
8 | 159 | 0.0503 | 7 | c.321 others(26): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1493546 | A | ATATATAT | 3_prime_UTR_variant | MODIFIER | HG02572.hp1 NA19240.hp2 |
a0002 | a0002c0002 | a0002c0002t0011a0002c0002t0016 | a0002c0002t0011g0124 a0002c0002t0016g0105 |
2 | 81 | 0.0247 | 7 | c.*33 others(18): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 19/19 | 3317 | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1493548 | A | ATATATAT | 3_prime_UTR_variant | MODIFIER | HG03139.hp2 HG03579.hp2 |
a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0098 a0002c0002t0016g0101 |
2 | 23 | 0.0870 | 7 | c.*33 others(18): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 19/19 | 3319 | chr12 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55675903 | C | CTTTTTTT | intron_variant | MODIFIER | HG00741.hp2 HG03098.hp1 HG03834.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007 | a0001c0001t0002g0005 a0001c0001t0002g0034 a0001c0001t0003g0046 others(1): Show |
4 | 19 | 0.2105 | 7 | c.*39 others(24): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 17/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 55816203 | A | AGCGTGAC | intron_variant | MODIFIER | HG02630.hp1 HG02647.hp1 HG03041.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0001 | a0001c0001t0001g0033 a0001c0001t0007g0002 a0001c0001t0007g0024 others(1): Show |
4 | 72 | 0.0556 | 7 | c.256 others(28): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 14/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 55879099 | A | ATTTTTTT | intron_variant | MODIFIER | HG00741.hp2 HG01069.hp1 HG01099.hp2 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0010 a0001c0001t0001g0041 a0001c0001t0001g0050 others(7): Show |
10 | 11 | 0.9091 | 7 | c.256 others(26): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 14/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 55920446 | A | ACACCCCC | intron_variant | MODIFIER | HG01099.hp1 HG01109.hp2 HG02145.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0014 a0001c0001t0002g0008 a0001c0001t0002g0057 others(1): Show |
4 | 67 | 0.0597 | 7 | c.240 others(28): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 13/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 56252757 | C | CAAAAAAA | intron_variant | MODIFIER | HG00741.hp1 HG01169.hp2 HG01346.hp1 others(15): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0038 a0001c0001t0001g0048 a0001c0001t0001g0050 others(15): Show |
18 | 49 | 0.3673 | 7 | c.107 others(28): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 3/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 56443958 | A | ATTTTTTT | intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01099.hp2 others(14): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0002g0005 others(14): Show |
17 | 18 | 0.9444 | 7 | c.-14 others(26): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 1/17 | chr3 | TogoVar | |||||||
ERCC2_chr19_45344837_45375573 | 45352122 | A | AGGGTGGG | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG02040.hp1 others(11): Show |
a0001a0011 | a0001c0001a0001c0002a0001c0020others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0030others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0078 a0001c0001t0001g0083 others(6): Show |
14 | 410 | 0.0341 | 7 | c.219 others(22): Show |
ERCC2 | ENSG00000104884.17 | transcript | ENST00000391945.10 | protein_coding | 22/22 | chr19 | TogoVar | |||||||
ERCC6L_chrX_72199665_72244027 | 72238948 | T | TTTGGAGC | 5_prime_UTR_variant | MODIFIER | HG01884.hp2 HG04199.hp1 NA18999.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0006a0001c0004t0007 | a0001c0001t0006g0185 a0001c0001t0006g0186 a0001c0004t0007g0187 |
3 | 281 | 0.0107 | 7 | c.-44 others(14): Show |
ERCC6L | ENSG00000186871.7 | transcript | ENST00000334463.4 | protein_coding | 1/2 | 38 | chrX | TogoVar | ||||||
ERCC6_chr10_49449470_49544121 | 49449560 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01891.hp2 HG02257.hp1 others(11): Show |
a0001a0002 | a0001c0004a0001c0029a0002c0012 | a0001c0004t0001a0001c0029t0001a0002c0012t0001 | a0001c0004t0001g0025 a0001c0004t0001g0026 a0001c0004t0001g0027 others(8): Show |
14 | 76 | 0.1842 | 7 | c.*92 others(18): Show |
ERCC6 | ENSG00000225830.16 | transcript | ENST00000355832.10 | protein_coding | 4909 | chr10 | TogoVar | |||||||
EREG_chr4_74360145_74393749 | 74369364 | T | TCATAGTA | intron_variant | MODIFIER | HG02486.hp2 HG02717.hp1 HG03490.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0092 a0001c0001t0006g0093 a0001c0001t0006g0094 |
3 | 355 | 0.0085 | 7 | c.67+ others(22): Show |
EREG | ENSG00000124882.4 | transcript | ENST00000244869.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172834267 | A | AGGCGAGT | 5_prime_UTR_variant | MODIFIER | HG02280.hp2 HG02451.hp2 HG02572.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0012 | a0001c0001t0009g0329 a0001c0001t0009g0330 a0001c0001t0012g0331 |
3 | 332 | 0.0090 | 7 | c.-12 others(16): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 1/10 | 117 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERGIC1_chr5_172829251_172957683 | 172862307 | C | CAAAAAAA | intron_variant | MODIFIER | HG01433.hp2 HG02074.hp1 HG02523.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0051 a0001c0001t0001g0074 a0001c0001t0001g0116 others(10): Show |
13 | 41 | 0.3171 | 7 | c.21- others(24): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172894132 | C | CTTTTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00597.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0020 others(40): Show |
43 | 188 | 0.2287 | 7 | c.83- others(22): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172897443 | A | AAAAAGAG | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp2 HG01109.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0144 others(29): Show |
32 | 268 | 0.1194 | 7 | c.155 others(22): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172914246 | A | AAATAAAT | intron_variant | MODIFIER | HG01167.hp2 HG01261.hp2 HG02055.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0288 a0001c0001t0002g0082 a0001c0001t0002g0107 others(4): Show |
7 | 316 | 0.0222 | 7 | c.251 others(22): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172914254 | A | AAAAAAAT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00544.hp2 others(60): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0041 others(60): Show |
63 | 265 | 0.2377 | 7 | c.251 others(22): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172914254 | A | AAATAAAT | intron_variant | MODIFIER | HG02572.hp1 HG02647.hp1 HG02922.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0012 | a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0190 others(8): Show |
11 | 213 | 0.0516 | 7 | c.251 others(22): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC2_chr12_29332352_29386172 | 29332509 | G | GTCACTCA | downstream_gene_variant | MODIFIER | HG00738.hp2 HG02451.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 3 | 404 | 0.0074 | 7 | c.*86 others(18): Show |
ERGIC2 | ENSG00000087502.19 | transcript | ENST00000360150.9 | protein_coding | 4842 | chr12 | TogoVar | |||||||
ERGIC3_chr20_35537078_35562634 | 35544805 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(128): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0013 others(78): Show |
131 | 132 | 0.9924 | 7 | c.367 others(24): Show |
ERGIC3 | ENSG00000125991.21 | transcript | ENST00000348547.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ERG_chr21_38375036_38503477 | 38468982 | C | CAAAAAAA | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG01978.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0002g0002 others(3): Show |
7 | 315 | 0.0222 | 7 | c.19- others(24): Show |
ERG | ENSG00000157554.20 | transcript | ENST00000288319.12 | protein_coding | 1/9 | chr21 | TogoVar | |||||||
ERG_chr21_38375036_38503477 | 38480591 | C | CTTTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00642.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0060 a0001c0001t0001g0070 a0001c0001t0001g0072 others(28): Show |
31 | 107 | 0.2897 | 7 | c.18+ others(24): Show |
ERG | ENSG00000157554.20 | transcript | ENST00000288319.12 | protein_coding | 1/9 | chr21 | TogoVar | |||||||
ERH_chr14_69375128_69403299 | 69387695 | C | CAAAAAAA | intron_variant | MODIFIER | HG01081.hp2 HG01496.hp1 HG01884.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 others(13): Show |
19 | 195 | 0.0974 | 7 | c.92- others(20): Show |
ERH | ENSG00000100632.11 | transcript | ENST00000557016.6 | protein_coding | 2/3 | chr14 | TogoVar | |||||||
ERI1_chr8_8997897_9038338 | 9015722 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00733.hp2 others(33): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0004a0001c0002t0024others(1): Show | a0001c0001t0004g0043 a0001c0001t0004g0047 a0001c0001t0004g0048 others(26): Show |
36 | 328 | 0.1098 | 7 | c.499 others(22): Show |
ERI1 | ENSG00000104626.15 | transcript | ENST00000250263.8 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ERI3_chr1_44216070_44360257 | 44281601 | A | AAATATAT | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG00673.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 a0001c0001t0001g0148 a0001c0001t0001g0150 others(13): Show |
16 | 260 | 0.0615 | 7 | c.831 others(24): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 7/8 | chr1 | TogoVar | |||||||
ERI3_chr1_44216070_44360257 | 44281601 | A | ATATATAT | intron_variant | MODIFIER | HG01071.hp1 HG01361.hp2 HG01934.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 a0001c0001t0001g0152 a0001c0001t0001g0153 others(4): Show |
7 | 251 | 0.0279 | 7 | c.831 others(24): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 7/8 | chr1 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 700291 | G | GCCACAGA | intron_variant | MODIFIER | HG01099.hp1 HG02630.hp1 HG03098.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001a0002c0005t0002 | a0001c0001t0001g0222 a0002c0005t0001g0234 a0002c0005t0001g0235 others(1): Show |
4 | 368 | 0.0109 | 7 | c.170 others(24): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ERICH5_chr8_98059568_98098609 | 98070660 | C | CAAAAAAA | intron_variant | MODIFIER | HG00733.hp2 HG00738.hp2 HG01884.hp2 others(15): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 others(14): Show |
18 | 202 | 0.0891 | 7 | c.58+ others(22): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ERICH5_chr8_98059568_98098609 | 98085136 | C | CTTTTTTT | intron_variant | MODIFIER | HG00323.hp2 HG02818.hp2 NA18747.hp1 others(4): Show |
a0001a0010 | a0001c0001a0010c0013 | a0001c0001t0001a0001c0001t0002a0010c0013t0001 | a0001c0001t0001g0074 a0001c0001t0001g0098 a0001c0001t0001g0106 others(4): Show |
7 | 17 | 0.4118 | 7 | c.59- others(22): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ERICH6_chr3_150654885_150708920 | 150665515 | C | CAAAAAAA | intron_variant | MODIFIER | HG00673.hp2 HG00741.hp1 HG00741.hp2 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0029a0002c0002others(4): Show | a0001c0001t0001a0001c0029t0001a0002c0002t0001others(4): Show | a0001c0001t0001g0029 a0001c0001t0001g0074 a0001c0001t0001g0090 others(19): Show |
23 | 29 | 0.7931 | 7 | c.172 others(26): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 13/13 | chr3 | TogoVar | |||||||
ERICH6_chr3_150654885_150708920 | 150682348 | T | TCCCCACA | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG00738.hp1 others(31): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0003others(4): Show | a0001c0001t0001a0001c0005t0001a0002c0003t0001others(5): Show | a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0001g0061 others(30): Show |
34 | 345 | 0.0986 | 7 | c.784 others(20): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 6/13 | chr3 | TogoVar | |||||||
ERMARD_chr6_169746622_169786600 | 169775171 | T | TTTATAGA | intron_variant | MODIFIER | HG01099.hp1 HG02055.hp1 HG02258.hp2 others(6): Show |
a0002a0005 | a0002c0006a0005c0011 | a0002c0006t0001a0005c0011t0001 | a0002c0006t0001g0051 a0002c0006t0001g0161 a0002c0006t0001g0162 others(5): Show |
9 | 378 | 0.0238 | 7 | c.131 others(22): Show |
ERMARD | ENSG00000130023.16 | transcript | ENST00000366773.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ERO1B_chr1_236210101_236286958 | 236213558 | T | TAAAAAAA | downstream_gene_variant | MODIFIER | HG01346.hp2 HG01928.hp2 HG01993.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0026others(1): Show | a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0295 others(5): Show |
8 | 139 | 0.0576 | 7 | c.*49 others(18): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 1542 | chr1 | TogoVar | |||||||
ERO1B_chr1_236210101_236286958 | 236216856 | C | CAATACTT | 3_prime_UTR_variant | MODIFIER | HG01243.hp2 HG02809.hp2 HG02886.hp1 |
a0003 | a0003c0004 | a0003c0004t0025 | a0003c0004t0025g0022 a0003c0004t0025g0024 a0003c0004t0025g0025 |
3 | 394 | 0.0076 | 7 | c.*16 others(18): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 16/16 | 1659 | chr1 | TogoVar |