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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENOSF1_chr18_665318_717630 | 666920 | GAGATGGT | G | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01358.hp2 HG01975.hp1 others(46): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0007others(2): Show | a0001c0001t0002a0001c0001t0014a0002c0002t0002others(3): Show | a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0009 others(44): Show |
49 | 401 | 0.1222 | -7 | c.*73 others(18): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3397 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 667166 | GTGATGGT | G | downstream_gene_variant | MODIFIER | HG02809.hp1 HG03041.hp2 HG03139.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0026 a0002c0002t0012g0091 a0002c0002t0012g0174 others(1): Show |
4 | 416 | 0.0096 | -7 | c.*71 others(18): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3151 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 717401 | ATTTTTTT | A | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(206): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(26): Show | a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0147 others(195): Show |
209 | 273 | 0.7656 | -7 | c.-48 others(18): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 4772 | chr18 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43263942 | GATAAACT | G | intron_variant | MODIFIER | HG01261.hp1 HG01496.hp1 HG01515.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005 | a0001c0001t0003g0065 a0001c0001t0003g0067 a0001c0001t0004g0088 others(2): Show |
5 | 186 | 0.0269 | -7 | c.161 others(26): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 14/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43310197 | CAAAAAAA | C | intron_variant | MODIFIER | HG00609.hp1 HG01981.hp2 HG02257.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0002g0032 a0001c0001t0004g0044 a0001c0001t0004g0116 others(5): Show |
8 | 19 | 0.4211 | -7 | c.126 others(28): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 11/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43541173 | GTTTTTTT | G | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00609.hp2 others(67): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0098 a0001c0001t0002g0010 a0001c0001t0002g0011 others(67): Show |
70 | 78 | 0.8974 | -7 | c.-21 others(28): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43598590 | TCTCTGCA | T | intron_variant | MODIFIER | HG02109.hp1 HG02486.hp1 HG02559.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0003t0011a0001c0003t0013 | a0001c0001t0005g0170 a0001c0001t0005g0172 a0001c0001t0005g0173 others(4): Show |
7 | 186 | 0.0376 | -7 | c.-21 others(28): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43656794 | GCGCCTTT | G | intron_variant | MODIFIER | HG02559.hp1 HG02622.hp2 HG02717.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0002c0006others(1): Show | a0001c0001t0005a0002c0004t0001a0002c0004t0015others(4): Show | a0001c0001t0005g0166 a0002c0004t0001g0069 a0002c0004t0015g0070 others(5): Show |
8 | 186 | 0.0430 | -7 | c.-21 others(28): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43776347 | GGAATGAA | G | intron_variant | MODIFIER | HG02109.hp1 HG02486.hp1 HG02717.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0003t0011 | a0001c0001t0005g0170 a0001c0001t0005g0172 a0001c0001t0005g0173 others(1): Show |
4 | 186 | 0.0215 | -7 | c.-28 others(28): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 1/16 | chr13 | TogoVar | |||||||
ENPP1_chr6_131803020_131900155 | 131893949 | CTTTTTTT | C | 3_prime_UTR_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02451.hp1 others(12): Show |
a0001a0002a0003 | a0001c0007a0002c0002a0002c0003others(2): Show | a0001c0007t0037a0002c0002t0023a0002c0002t0035others(5): Show | a0001c0007t0037g0099 a0002c0002t0023g0112 a0002c0002t0023g0113 others(12): Show |
15 | 72 | 0.2083 | -7 | c.*34 others(18): Show |
ENPP1 | ENSG00000197594.14 | transcript | ENST00000647893.1 | protein_coding | 25/25 | 3462 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ENPP1_chr6_131803020_131900155 | 131896426 | CGCAAAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG01099.hp1 others(6): Show |
a0001a0002a0012 | a0001c0001a0002c0002a0012c0020 | a0001c0001t0001a0001c0001t0008a0001c0001t0017others(4): Show | a0001c0001t0001g0056 a0001c0001t0001g0211 a0001c0001t0008g0093 others(6): Show |
9 | 237 | 0.0380 | -7 | c.*59 others(18): Show |
ENPP1 | ENSG00000197594.14 | transcript | ENST00000647893.1 | protein_coding | 1272 | chr6 | TogoVar | |||||||
ENPP3_chr6_131632302_131752410 | 131717352 | GTGTGTGT | G | intron_variant | MODIFIER | HG02486.hp1 HG02818.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 a0001c0001t0001g0155 a0001c0001t0001g0172 others(1): Show |
4 | 276 | 0.0145 | -7 | c.141 others(26): Show |
ENPP3 | ENSG00000154269.15 | transcript | ENST00000357639.8 | protein_coding | 15/24 | chr6 | TogoVar | |||||||
ENPP6_chr4_184083706_184222873 | 184129288 | ACATACAC | A | intron_variant | MODIFIER | HG01884.hp2 HG02717.hp1 HG03130.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003a0001c0016 | a0001c0002t0002a0001c0002t0004a0001c0003t0003others(1): Show | a0001c0002t0002g0049 a0001c0002t0004g0023 a0001c0002t0004g0024 others(2): Show |
5 | 251 | 0.0199 | -7 | c.422 others(24): Show |
ENPP6 | ENSG00000164303.11 | transcript | ENST00000296741.7 | protein_coding | 2/7 | chr4 | TogoVar | |||||||
ENPP6_chr4_184083706_184222873 | 184131194 | TTTCTTTC | T | intron_variant | MODIFIER | HG02071.hp1 NA18974.hp1 NA18992.hp1 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0005 | a0002c0001t0001g0155 a0002c0001t0001g0193 a0002c0001t0001g0204 others(1): Show |
4 | 318 | 0.0126 | -7 | c.422 others(24): Show |
ENPP6 | ENSG00000164303.11 | transcript | ENST00000296741.7 | protein_coding | 2/7 | chr4 | TogoVar | |||||||
ENPP6_chr4_184083706_184222873 | 184208919 | TCCCTGAC | T | intron_variant | MODIFIER | HG02723.hp2 NA19030.hp1 NA19240.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0312 a0002c0001t0001g0313 a0002c0001t0001g0314 |
3 | 318 | 0.0094 | -7 | c.241 others(24): Show |
ENPP6 | ENSG00000164303.11 | transcript | ENST00000296741.7 | protein_coding | 1/7 | chr4 | TogoVar | |||||||
ENPP7_chr17_79725943_79747219 | 79736585 | TGTCCAGG | T | intron_variant | MODIFIER | HG00738.hp2 HG01261.hp1 HG01346.hp1 others(31): Show |
a0001a0002a0003 | a0001c0004a0001c0017a0002c0012others(1): Show | a0001c0004t0002a0001c0017t0001a0002c0012t0002others(2): Show | a0001c0004t0002g0007 a0001c0004t0002g0036 a0001c0004t0002g0063 others(18): Show |
34 | 428 | 0.0794 | -7 | c.102 others(24): Show |
ENPP7 | ENSG00000182156.10 | transcript | ENST00000328313.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ENTHD1_chr22_39738044_39898760 | 39888260 | CTTTTTTT | C | intron_variant | MODIFIER | HG00735.hp1 HG01069.hp2 HG01167.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 others(2): Show |
5 | 105 | 0.0476 | -7 | c.-15 others(24): Show |
ENTHD1 | ENSG00000176177.10 | transcript | ENST00000325157.7 | protein_coding | 1/6 | chr22 | TogoVar | |||||||
ENTPD1_chr10_95751163_95882266 | 95758002 | CAAAAAAA | C | intron_variant | MODIFIER | HG00639.hp1 HG02486.hp1 HG02559.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0016 a0001c0001t0007g0294 a0001c0001t0007g0295 others(5): Show |
9 | 232 | 0.0388 | -7 | c.16+ others(22): Show |
ENTPD1 | ENSG00000138185.20 | transcript | ENST00000371205.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ENTPD1_chr10_95751163_95882266 | 95758024 | AAAAAAAG | A | intron_variant | MODIFIER | HG01261.hp1 HG01433.hp1 HG02132.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0009others(2): Show | a0001c0001t0002g0005 a0001c0001t0002g0026 a0001c0001t0002g0028 others(21): Show |
26 | 337 | 0.0772 | -7 | c.16+ others(22): Show |
ENTPD1 | ENSG00000138185.20 | transcript | ENST00000371205.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ENTPD1_chr10_95751163_95882266 | 95767314 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG01256.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0036 | a0001c0001t0005g0228 a0001c0001t0005g0231 a0001c0001t0005g0232 others(4): Show |
7 | 273 | 0.0256 | -7 | c.16+ others(24): Show |
ENTPD1 | ENSG00000138185.20 | transcript | ENST00000371205.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ENTPD1_chr10_95751163_95882266 | 95826571 | CAAAAAAA | C | intron_variant | MODIFIER | HG01109.hp2 HG01123.hp1 HG01257.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0001 a0001c0001t0011g0018 a0001c0001t0011g0019 others(4): Show |
9 | 113 | 0.0796 | -7 | c.144 others(24): Show |
ENTPD1 | ENSG00000138185.20 | transcript | ENST00000371205.5 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ENTPD3_chr3_40382184_40433744 | 40392574 | CAAAAAAA | C | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp1 HG01255.hp1 others(11): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0002a0001c0001t0010a0005c0007t0002 | a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0038 others(6): Show |
14 | 345 | 0.0406 | -7 | c.168 others(22): Show |
ENTPD3 | ENSG00000168032.10 | transcript | ENST00000301825.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ENTPD3_chr3_40382184_40433744 | 40401083 | AGAGGTCC | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(112): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0006others(2): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0008others(4): Show | a0001c0001t0001g0138 a0002c0002t0002g0002 a0002c0002t0002g0006 others(76): Show |
115 | 372 | 0.3091 | -7 | c.286 others(20): Show |
ENTPD3 | ENSG00000168032.10 | transcript | ENST00000301825.8 | protein_coding | 4/10 | chr3 | TogoVar | |||||||
ENTPD5_chr14_73958230_74024288 | 73965268 | AGAGGATG | A | 3_prime_UTR_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG02622.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0022 | a0001c0001t0011g0134 a0001c0001t0011g0135 a0001c0001t0011g0136 others(4): Show |
7 | 378 | 0.0185 | -7 | c.*16 others(18): Show |
ENTPD5 | ENSG00000187097.13 | transcript | ENST00000334696.11 | protein_coding | 16/16 | 1653 | chr14 | TogoVar | ||||||
ENTREP1_chr9_69320215_69397456 | 69349184 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(233): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(213): Show |
236 | 284 | 0.8310 | -7 | c.471 others(26): Show |
ENTREP1 | ENSG00000135063.20 | transcript | ENST00000303068.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29116054 | GAGCTCCC | G | downstream_gene_variant | MODIFIER | HG03471.hp1 HG03579.hp1 |
a0001 | a0001c0011a0001c0024 | a0001c0011t0010a0001c0024t0010 | a0001c0011t0010g0116 a0001c0024t0010g0062 |
2 | 124 | 0.0161 | -7 | c.*72 others(18): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 4197 | chr15 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29356287 | TATATATA | T | intron_variant | MODIFIER | HG01891.hp2 HG02258.hp2 HG03041.hp1 |
a0002a0003a0006 | a0002c0003a0003c0023a0006c0029 | a0002c0003t0013a0003c0023t0022a0006c0029t0029 | a0002c0003t0013g0029 a0003c0023t0022g0008 a0006c0029t0029g0093 |
3 | 123 | 0.0244 | -7 | c.276 others(26): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 2/10 | chr15 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29408842 | TATATTTG | T | intron_variant | MODIFIER | HG01081.hp2 HG02055.hp2 |
a0002 | a0002c0003a0002c0015 | a0002c0003t0013a0002c0015t0005 | a0002c0003t0013g0010 a0002c0015t0005g0070 |
2 | 124 | 0.0161 | -7 | c.220 others(26): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29534106 | CAAAAAAA | C | intron_variant | MODIFIER | HG01109.hp1 HG02451.hp1 HG02965.hp2 others(1): Show |
a0002a0008 | a0002c0004a0002c0012a0008c0025 | a0002c0004t0003a0002c0012t0009a0008c0025t0002 | a0002c0004t0003g0101 a0002c0012t0009g0091 a0002c0012t0009g0092 others(1): Show |
4 | 17 | 0.2353 | -7 | c.219 others(26): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
EOMES_chr3_27710953_27727323 | 27722866 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00738.hp1 HG01099.hp2 others(60): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0007a0002c0002t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(17): Show |
63 | 112 | 0.5625 | -7 | c.-57 others(16): Show |
EOMES | ENSG00000163508.13 | transcript | ENST00000449599.4 | protein_coding | 544 | chr3 | TogoVar | |||||||
EP300_chr22_41087592_41185077 | 41110282 | ATTTTTTT | A | intron_variant | MODIFIER | HG02257.hp2 HG02486.hp1 HG02486.hp2 others(6): Show |
a0001 | a0001c0002a0001c0005a0001c0006others(2): Show | a0001c0002t0015a0001c0002t0019a0001c0005t0006others(3): Show | a0001c0002t0015g0099 a0001c0002t0019g0101 a0001c0005t0006g0135 others(6): Show |
9 | 54 | 0.1667 | -7 | c.95- others(22): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
EP300_chr22_41087592_41185077 | 41111519 | CTTCCTTT | C | intron_variant | MODIFIER | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(3): Show |
a0001 | a0001c0001a0001c0028 | a0001c0001t0004a0001c0028t0004 | a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 others(3): Show |
6 | 298 | 0.0201 | -7 | c.95- others(22): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
EP300_chr22_41087592_41185077 | 41122141 | TTTCTTTC | T | intron_variant | MODIFIER | HG01257.hp2 HG01943.hp1 HG02132.hp2 others(1): Show |
a0001a0002 | a0001c0002a0002c0024 | a0001c0002t0001a0001c0002t0003a0001c0002t0011others(1): Show | a0001c0002t0001g0057 a0001c0002t0003g0119 a0001c0002t0011g0086 others(1): Show |
4 | 298 | 0.0134 | -7 | c.730 others(24): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
EP300_chr22_41087592_41185077 | 41167819 | TTTTTTTG | T | intron_variant | MODIFIER | HG00544.hp1 HG01884.hp1 HG02132.hp1 others(20): Show |
a0001a0012 | a0001c0004a0001c0005a0012c0015 | a0001c0004t0001a0001c0004t0004a0001c0004t0010others(2): Show | a0001c0004t0001g0005 a0001c0004t0001g0006 a0001c0004t0001g0012 others(20): Show |
23 | 294 | 0.0782 | -7 | c.387 others(24): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
EP300_chr22_41087592_41185077 | 41170653 | CTTTTTTT | C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(31): Show |
a0001a0012 | a0001c0002a0001c0004a0001c0013others(1): Show | a0001c0002t0001a0001c0004t0001a0001c0004t0004others(4): Show | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0001 others(31): Show |
34 | 130 | 0.2615 | -7 | c.445 others(24): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
EP300_chr22_41087592_41185077 | 41179877 | CACTCACA | C | 3_prime_UTR_variant | MODIFIER | HG02523.hp1 HG03942.hp1 HG04184.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0005a0001c0002t0007others(2): Show | a0001c0002t0003g0299 a0001c0002t0005g0065 a0001c0002t0007g0072 others(5): Show |
8 | 285 | 0.0281 | -7 | c.*92 others(16): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 922 | chr22 | TogoVar | ||||||
EP400_chr12_131944942_132085460 | 131951065 | ATTTTTTT | A | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01074.hp1 others(6): Show |
a0001a0002a0007others(1): Show | a0001c0036a0002c0001a0002c0068others(2): Show | a0001c0036t0002a0002c0001t0001a0002c0068t0001others(2): Show | a0001c0036t0002g0042 a0002c0001t0001g0037 a0002c0001t0001g0038 others(6): Show |
9 | 114 | 0.0789 | -7 | c.-36 others(24): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EP400_chr12_131944942_132085460 | 131966903 | CAAAAAAA | C | intron_variant | MODIFIER | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
a0001a0015 | a0001c0018a0001c0025a0001c0026others(1): Show | a0001c0018t0001a0001c0018t0005a0001c0025t0001others(2): Show | a0001c0018t0001g0204 a0001c0018t0005g0203 a0001c0025t0001g0202 others(2): Show |
5 | 123 | 0.0407 | -7 | c.133 others(26): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EP400_chr12_131944942_132085460 | 131972152 | CTTTTTCT | C | intron_variant | MODIFIER | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(33): Show |
a0001a0003a0004others(4): Show | a0001c0006a0001c0046a0001c0049others(15): Show | a0001c0006t0001a0001c0006t0005a0001c0046t0001others(17): Show | a0001c0006t0001g0168 a0001c0006t0001g0169 a0001c0006t0001g0172 others(33): Show |
36 | 206 | 0.1748 | -7 | c.133 others(26): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EP400_chr12_131944942_132085460 | 132065573 | TTAAGAAA | T | intron_variant | MODIFIER | HG01891.hp2 HG03225.hp2 |
a0003 | a0003c0023a0003c0024 | a0003c0023t0001a0003c0024t0013 | a0003c0023t0001g0150 a0003c0024t0013g0151 |
2 | 206 | 0.0097 | -7 | c.855 others(24): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 48/52 | chr12 | TogoVar | |||||||
EPAS1_chr2_46292407_46391697 | 46302734 | GAAAAAAA | G | intron_variant | MODIFIER | HG00099.hp2 HG00673.hp2 HG01074.hp1 others(11): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0007a0001c0001t0010others(3): Show | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0142 others(10): Show |
14 | 145 | 0.0966 | -7 | c.26+ others(22): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EPB41L2_chr6_130834347_131068245 | 130954040 | CTTTTTTT | C | intron_variant | MODIFIER | HG00597.hp2 HG01168.hp1 HG02015.hp2 others(37): Show |
a0001a0002a0009others(2): Show | a0001c0001a0001c0002a0002c0004others(3): Show | a0001c0001t0001a0001c0002t0002a0002c0004t0001others(3): Show | a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0024 others(37): Show |
40 | 85 | 0.4706 | -7 | c.705 others(24): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 3/19 | chr6 | TogoVar | |||||||
EPB41L2_chr6_130834347_131068245 | 131001165 | TTAGACTA | T | intron_variant | MODIFIER | HG01123.hp1 HG02647.hp2 HG02818.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0100 a0001c0001t0005g0008 a0001c0001t0005g0009 others(7): Show |
10 | 354 | 0.0282 | -7 | c.-14 others(26): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 1/19 | chr6 | TogoVar | |||||||
EPB41L2_chr6_130834347_131068245 | 131048151 | AAAAAAAG | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00544.hp2 others(41): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0003 a0001c0001t0001g0132 a0001c0001t0001g0139 others(41): Show |
44 | 351 | 0.1254 | -7 | c.-15 others(26): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 1/19 | chr6 | TogoVar | |||||||
EPB41L3_chr18_5387386_5548997 | 5449455 | TTCAACAA | T | intron_variant | MODIFIER | HG02451.hp2 HG02922.hp2 HG03471.hp2 others(1): Show |
a0001a0013 | a0001c0002a0013c0023 | a0001c0002t0001a0001c0002t0002a0013c0023t0005 | a0001c0002t0001g0027 a0001c0002t0002g0009 a0001c0002t0002g0163 others(1): Show |
4 | 220 | 0.0182 | -7 | c.382 others(24): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | TogoVar | |||||||
EPB41L3_chr18_5387386_5548997 | 5484086 | CAAAAAAA | C | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02074.hp1 others(8): Show |
a0001a0007a0012others(1): Show | a0001c0001a0001c0002a0001c0020others(3): Show | a0001c0001t0001a0001c0002t0002a0001c0020t0001others(3): Show | a0001c0001t0001g0194 a0001c0001t0001g0218 a0001c0002t0002g0028 others(8): Show |
11 | 39 | 0.2821 | -7 | c.183 others(24): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | TogoVar | |||||||
EPB41L3_chr18_5387386_5548997 | 5502030 | CCCTCCTG | C | intron_variant | MODIFIER | HG00733.hp1 HG00733.hp2 HG00735.hp2 others(38): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(16): Show | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0031 others(38): Show |
41 | 218 | 0.1881 | -7 | c.-11 others(26): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | TogoVar | |||||||
EPB41L3_chr18_5387386_5548997 | 5541481 | AATATACT | A | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02717.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(5): Show | a0001c0001t0001g0011 a0001c0001t0002g0012 a0001c0002t0002g0007 others(8): Show |
11 | 220 | 0.0500 | -7 | c.-12 others(24): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | TogoVar | |||||||
EPB41L4A_chr5_112157619_112424277 | 112261045 | GTTTTCTT | G | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp1 HG00621.hp2 others(23): Show |
a0001a0002a0007others(4): Show | a0001c0001a0001c0002a0001c0021others(6): Show | a0001c0001t0038a0001c0002t0003a0001c0002t0005others(10): Show | a0001c0001t0038g0180 a0001c0002t0003g0106 a0001c0002t0003g0107 others(23): Show |
26 | 226 | 0.1150 | -7 | c.643 others(24): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 7/22 | chr5 | TogoVar | |||||||
EPB41L4A_chr5_112157619_112424277 | 112314505 | TAAAAAAA | T | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG00738.hp1 others(21): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0002c0003others(7): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0017others(13): Show | a0001c0001t0002g0020 a0001c0001t0006g0006 a0001c0001t0006g0041 others(21): Show |
24 | 38 | 0.6316 | -7 | c.100 others(24): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 1/22 | chr5 | TogoVar |