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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENPP1_chr6_131803020_131900155 | 131845043 | G | GTTTTT | intron_variant | MODIFIER | HG02818.hp1 HG03486.hp2 HG03579.hp1 others(3): Show |
a0002a0003 | a0002c0002a0003c0005 | a0002c0002t0001a0002c0002t0049a0002c0002t0062others(1): Show | a0002c0002t0001g0160a0002c0002t0049g0198a0002c0002t0062g0203others(3): Show | 6 | 292 | 0.0206 | 5 | c.241 others(22): Show |
ENPP1 | ENSG00000197594.14 | transcript | ENST00000647893.1 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ENPP1_chr6_131803020_131900155 | 131866007 | A | AGAGAG | intron_variant | MODIFIER | HG02818.hp1 HG04204.hp2 NA21309.hp2 |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0002t0049a0002c0004t0043 | a0002c0002t0001g0160a0002c0002t0049g0198a0002c0004t0043g0243 | 3 | 292 | 0.0103 | 5 | c.116 others(24): Show |
ENPP1 | ENSG00000197594.14 | transcript | ENST00000647893.1 | protein_coding | 11/24 | chr6 | TogoVar | ||||||
ENPP1_chr6_131803020_131900155 | 131893751 | C | CTTTCT | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG00673.hp2 others(24): Show |
a0001a0002a0012 | a0001c0001a0002c0002a0012c0014 | a0001c0001t0004a0001c0001t0033a0001c0001t0058others(6): Show | a0001c0001t0004g0008a0001c0001t0004g0017a0001c0001t0033g0016others(24): Show | 27 | 292 | 0.0925 | 5 | c.*32 others(16): Show |
ENPP1 | ENSG00000197594.14 | transcript | ENST00000647893.1 | protein_coding | 25/25 | 3257 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
ENPP2_chr8_119552086_119643839 | 119590995 | T | TAAAAA | intron_variant | MODIFIER | HG01071.hp2 HG01123.hp2 HG01243.hp1 others(36): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(5): Show | a0001c0001t0001g0057a0001c0001t0001g0064a0001c0001t0001g0069others(35): Show | 39 | 340 | 0.1147 | 5 | c.108 others(22): Show |
ENPP2 | ENSG00000136960.13 | transcript | ENST00000075322.11 | protein_coding | 12/24 | chr8 | TogoVar | ||||||
ENPP3_chr6_131632302_131752410 | 131639265 | A | ATATTT | intron_variant | MODIFIER | HG01123.hp1 HG02055.hp2 HG02622.hp1 others(4): Show |
a0001a0005a0008 | a0001c0001a0001c0002a0005c0007others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0157a0001c0002t0001g0030a0001c0002t0001g0044others(4): Show | 7 | 278 | 0.0252 | 5 | c.78+ others(20): Show |
ENPP3 | ENSG00000154269.15 | transcript | ENST00000357639.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ENPP3_chr6_131632302_131752410 | 131639266 | T | TATATA | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02922.hp1 others(2): Show |
a0001a0004 | a0001c0002a0004c0004 | a0001c0002t0001a0001c0002t0002a0004c0004t0001 | a0001c0002t0001g0278a0001c0002t0002g0027a0001c0002t0002g0277others(2): Show | 5 | 278 | 0.0180 | 5 | c.78+ others(20): Show |
ENPP3 | ENSG00000154269.15 | transcript | ENST00000357639.8 | protein_coding | 1/24 | chr6 | TogoVar | ||||||
ENPP3_chr6_131632302_131752410 | 131663524 | C | CAAAAA | intron_variant | MODIFIER | HG01952.hp2 HG02055.hp1 HG02630.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0075a0001c0002t0001g0076a0001c0002t0001g0077others(4): Show | 7 | 278 | 0.0252 | 5 | c.562 others(22): Show |
ENPP3 | ENSG00000154269.15 | transcript | ENST00000357639.8 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ENPP3_chr6_131632302_131752410 | 131706023 | A | ATTATT | intron_variant | MODIFIER | HG02723.hp1 HG03195.hp2 HG03486.hp1 |
a0001a0005a0008 | a0001c0002a0005c0007a0008c0016 | a0001c0002t0001a0005c0007t0002a0008c0016t0002 | a0001c0002t0001g0020a0005c0007t0002g0269a0008c0016t0002g0029 | 3 | 278 | 0.0108 | 5 | c.141 others(26): Show |
ENPP3 | ENSG00000154269.15 | transcript | ENST00000357639.8 | protein_coding | 15/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ENPP3_chr6_131632302_131752410 | 131743824 | C | CAAAAT | intron_variant | MODIFIER | HG01258.hp2 HG01952.hp1 HG02630.hp2 others(9): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0003c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0050a0001c0001t0001g0118a0001c0001t0001g0207others(9): Show | 12 | 278 | 0.0432 | 5 | c.245 others(24): Show |
ENPP3 | ENSG00000154269.15 | transcript | ENST00000357639.8 | protein_coding | 24/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ENPP6_chr4_184083706_184222873 | 184131201 | C | CTTTCT | intron_variant | MODIFIER | HG02615.hp1 HG03471.hp2 NA18974.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0007a0001c0003t0017 | a0001c0002t0002g0218a0001c0003t0007g0019a0001c0003t0017g0165 | 3 | 320 | 0.0094 | 5 | c.422 others(22): Show |
ENPP6 | ENSG00000164303.11 | transcript | ENST00000296741.7 | protein_coding | 2/7 | chr4 | TogoVar | ||||||
ENPP6_chr4_184083706_184222873 | 184131234 | C | CTCTTT | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00642.hp1 others(32): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(8): Show | a0001c0002t0001g0151a0001c0002t0002g0072a0001c0002t0002g0089others(32): Show | 35 | 320 | 0.1094 | 5 | c.422 others(22): Show |
ENPP6 | ENSG00000164303.11 | transcript | ENST00000296741.7 | protein_coding | 2/7 | chr4 | TogoVar | ||||||
ENPP6_chr4_184083706_184222873 | 184157774 | A | ATTTTT | intron_variant | MODIFIER | HG01081.hp2 HG01106.hp1 HG01346.hp1 others(31): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0005others(2): Show | a0001c0002t0002a0001c0002t0012a0001c0003t0003others(9): Show | a0001c0002t0002g0038a0001c0002t0002g0042a0001c0002t0002g0076others(31): Show | 34 | 320 | 0.1063 | 5 | c.242 others(22): Show |
ENPP6 | ENSG00000164303.11 | transcript | ENST00000296741.7 | protein_coding | 1/7 | chr4 | TogoVar | ||||||
ENPP6_chr4_184083706_184222873 | 184206251 | A | ATTCTT | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00639.hp1 others(66): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0005others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0009others(12): Show | a0001c0002t0001g0062a0001c0002t0001g0078a0001c0002t0001g0138others(65): Show | 69 | 320 | 0.2156 | 5 | c.241 others(24): Show |
ENPP6 | ENSG00000164303.11 | transcript | ENST00000296741.7 | protein_coding | 1/7 | chr4 | TogoVar | ||||||
ENPP6_chr4_184083706_184222873 | 184219926 | A | AGAAGG | upstream_gene_variant | MODIFIER | HG00609.hp1 HG00733.hp2 HG00741.hp1 others(53): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(6): Show | a0001c0002t0001g0283a0001c0002t0001g0300a0001c0002t0002g0004others(52): Show | 56 | 320 | 0.1750 | 5 | c.-21 others(16): Show |
ENPP6 | ENSG00000164303.11 | transcript | ENST00000296741.7 | protein_coding | 2054 | chr4 | TogoVar | ||||||
ENPP7_chr17_79725943_79747219 | 79746195 | T | TAAAAA | downstream_gene_variant | MODIFIER | HG00741.hp1 NA18940.hp2 NA18942.hp1 others(6): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0002others(1): Show | a0001c0002t0001g0002a0001c0002t0001g0003a0001c0002t0001g0084others(6): Show | 9 | 430 | 0.0209 | 5 | c.*44 others(16): Show |
ENPP7 | ENSG00000182156.10 | transcript | ENST00000328313.10 | protein_coding | 3977 | chr17 | TogoVar | ||||||
ENSA_chr1_150617125_150634612 | 150631474 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(12): Show | 53 | 422 | 0.1256 | 5 | c.-20 others(16): Show |
ENSA | ENSG00000143420.19 | transcript | ENST00000369014.10 | protein_coding | 1863 | chr1 | TogoVar | ||||||
ENTPD1_chr10_95751163_95882266 | 95758002 | C | CAAAAA | intron_variant | MODIFIER | HG01123.hp1 HG01515.hp2 HG01516.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0001a0001c0001t0011g0016a0001c0001t0011g0017others(1): Show | 6 | 340 | 0.0177 | 5 | c.16+ others(20): Show |
ENTPD1 | ENSG00000138185.20 | transcript | ENST00000371205.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ENTPD1_chr10_95751163_95882266 | 95760814 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00741.hp1 HG01069.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(4): Show | a0001c0001t0004g0199a0001c0001t0005g0230a0001c0001t0005g0231others(13): Show | 16 | 340 | 0.0471 | 5 | c.16+ others(20): Show |
ENTPD1 | ENSG00000138185.20 | transcript | ENST00000371205.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ENTPD1_chr10_95751163_95882266 | 95778476 | A | AAAAGC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(176): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(36): Show | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0002g0005others(169): Show | 179 | 340 | 0.5265 | 5 | c.16+ others(22): Show |
ENTPD1 | ENSG00000138185.20 | transcript | ENST00000371205.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ENTPD3_chr3_40382184_40433744 | 40397495 | G | GTATGA | intron_variant | MODIFIER | HG01891.hp2 HG02486.hp1 HG02723.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0212a0001c0001t0001g0213a0001c0001t0001g0214others(12): Show | 15 | 374 | 0.0401 | 5 | c.169 others(22): Show |
ENTPD3 | ENSG00000168032.10 | transcript | ENST00000301825.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ENTPD4_chr8_23424162_23462647 | 23427124 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG02015.hp1 HG02074.hp2 NA18956.hp2 others(10): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0044 | a0001c0003t0001g0004a0001c0003t0001g0020a0001c0003t0001g0103others(3): Show | 13 | 412 | 0.0316 | 5 | c.*57 others(16): Show |
ENTPD4 | ENSG00000197217.13 | transcript | ENST00000358689.9 | protein_coding | 2037 | chr8 | TogoVar | ||||||
ENTPD5_chr14_73958230_74024288 | 73978601 | C | CAAACA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(124): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0004a0001c0002t0002a0001c0002t0003others(9): Show | a0001c0001t0004g0017a0001c0001t0004g0228a0001c0002t0002g0098others(121): Show | 127 | 380 | 0.3342 | 5 | c.442 others(22): Show |
ENTPD5 | ENSG00000187097.13 | transcript | ENST00000334696.11 | protein_coding | 6/15 | chr14 | TogoVar | ||||||
ENTPD5_chr14_73958230_74024288 | 73989832 | C | CAAAAA | intron_variant | MODIFIER | HG02257.hp1 HG02486.hp1 HG02723.hp1 others(4): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0009a0001c0002t0010a0002c0003t0009 | a0001c0002t0009g0226a0001c0002t0010g0221a0001c0002t0010g0222others(3): Show | 7 | 380 | 0.0184 | 5 | c.-70 others(22): Show |
ENTPD5 | ENSG00000187097.13 | transcript | ENST00000334696.11 | protein_coding | 3/15 | chr14 | TogoVar | ||||||
ENTPD5_chr14_73958230_74024288 | 73990381 | C | CTGGAG | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00558.hp2 others(49): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0017a0001c0002t0021others(2): Show | a0001c0002t0003g0007a0001c0002t0003g0070a0001c0002t0003g0072others(47): Show | 52 | 380 | 0.1368 | 5 | c.-70 others(22): Show |
ENTPD5 | ENSG00000187097.13 | transcript | ENST00000334696.11 | protein_coding | 3/15 | chr14 | TogoVar | ||||||
ENTPD5_chr14_73958230_74024288 | 73991625 | A | AAAAAG | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00558.hp2 others(37): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0017a0001c0002t0021others(2): Show | a0001c0002t0003g0007a0001c0002t0003g0070a0001c0002t0003g0074others(35): Show | 40 | 380 | 0.1053 | 5 | c.-70 others(22): Show |
ENTPD5 | ENSG00000187097.13 | transcript | ENST00000334696.11 | protein_coding | 3/15 | chr14 | TogoVar | ||||||
ENTPD5_chr14_73958230_74024288 | 74001666 | C | CAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG01256.hp2 HG01258.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0032 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0145others(28): Show | 35 | 380 | 0.0921 | 5 | c.-71 others(22): Show |
ENTPD5 | ENSG00000187097.13 | transcript | ENST00000334696.11 | protein_coding | 3/15 | chr14 | TogoVar | ||||||
ENTPD8_chr9_137429364_137446357 | 137432278 | T | TAAAAA | downstream_gene_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG00673.hp2 others(15): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0002a0001c0001t0005a0003c0003t0002others(1): Show | a0001c0001t0002g0001a0001c0001t0002g0003a0001c0001t0002g0004others(8): Show | 18 | 392 | 0.0459 | 5 | c.*26 others(16): Show |
ENTPD8 | ENSG00000188833.10 | transcript | ENST00000371506.7 | protein_coding | 2085 | chr9 | TogoVar | ||||||
ENTREP1_chr9_69320215_69397456 | 69327619 | C | CAAAAG | intron_variant | MODIFIER | HG00597.hp2 HG01123.hp1 HG01167.hp1 others(67): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(6): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(59): Show | 70 | 342 | 0.2047 | 5 | c.414 others(22): Show |
ENTREP1 | ENSG00000135063.20 | transcript | ENST00000303068.14 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ENTREP1_chr9_69320215_69397456 | 69354254 | A | ATTTTT | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02055.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0055a0001c0001t0001g0063a0001c0001t0001g0163others(11): Show | 14 | 342 | 0.0409 | 5 | c.472 others(24): Show |
ENTREP1 | ENSG00000135063.20 | transcript | ENST00000303068.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ENTREP1_chr9_69320215_69397456 | 69366384 | G | GTTTTT | intron_variant | MODIFIER | HG02055.hp1 HG02135.hp1 HG03130.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0046a0001c0001t0001g0055a0001c0001t0001g0056others(4): Show | 7 | 342 | 0.0205 | 5 | c.472 others(22): Show |
ENTREP1 | ENSG00000135063.20 | transcript | ENST00000303068.14 | protein_coding | 2/10 | chr9 | TogoVar | ||||||
ENTREP1_chr9_69320215_69397456 | 69397321 | A | AAAAAC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(259): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(243): Show | 262 | 342 | 0.7661 | 5 | c.*55 others(16): Show |
ENTREP1 | ENSG00000135063.20 | transcript | ENST00000303068.14 | protein_coding | 4866 | chr9 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29131939 | T | TCTGAC | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG01069.hp1 others(18): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0056a0001c0001t0001g0069a0001c0001t0001g0098others(18): Show | 21 | 125 | 0.1680 | 5 | c.928 others(22): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 7/10 | chr15 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29292436 | A | AATGGC | intron_variant | MODIFIER | HG00423.hp1 HG03139.hp2 HG03486.hp2 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0002c0004others(2): Show | a0001c0001t0004a0001c0001t0045a0002c0003t0021others(3): Show | a0001c0001t0004g0026a0001c0001t0045g0034a0002c0003t0021g0016others(3): Show | 6 | 125 | 0.0480 | 5 | c.277 others(24): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 2/10 | chr15 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29343027 | T | TGGGGG | intron_variant | MODIFIER | HG00558.hp2 HG00642.hp2 HG00741.hp2 others(9): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(8): Show | a0001c0001t0001g0047a0001c0001t0001g0068a0001c0001t0004g0026others(9): Show | 12 | 125 | 0.0960 | 5 | c.276 others(24): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 2/10 | chr15 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29478020 | T | TATATA | intron_variant | MODIFIER | HG02809.hp1 HG03130.hp1 |
a0002 | a0002c0005a0002c0009 | a0002c0005t0020a0002c0009t0015 | a0002c0005t0020g0028a0002c0009t0015g0029 | 2 | 125 | 0.0160 | 5 | c.219 others(24): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
EOLA1_chrX_149536012_149553331 | 149551480 | C | CTGGCT | downstream_gene_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0029 | 1 | 315 | 0.0032 | 5 | c.*45 others(16): Show |
EOLA1 | ENSG00000197620.11 | transcript | ENST00000393985.8 | protein_coding | 3150 | chrX | TogoVar | ||||||
EP300_chr22_41087592_41185077 | 41112708 | T | TATTTG | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00735.hp2 others(17): Show |
a0001a0002a0009 | a0001c0006a0002c0003a0002c0024others(1): Show | a0001c0006t0003a0001c0006t0007a0001c0006t0010others(3): Show | a0001c0006t0003g0044a0001c0006t0007g0045a0001c0006t0007g0048others(17): Show | 20 | 300 | 0.0667 | 5 | c.95- others(20): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | TogoVar | ||||||
EP300_chr22_41087592_41185077 | 41113157 | A | ACCCCC | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00597.hp2 others(36): Show |
a0001a0002a0007others(1): Show | a0001c0002a0001c0004a0001c0005others(5): Show | a0001c0002t0014a0001c0002t0059a0001c0004t0002others(18): Show | a0001c0002t0014g0167a0001c0002t0059g0129a0001c0004t0002g0033others(36): Show | 39 | 300 | 0.1300 | 5 | c.95- others(20): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
EP300_chr22_41087592_41185077 | 41119176 | T | TTATTA | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00597.hp2 others(50): Show |
a0001a0002a0005others(1): Show | a0001c0002a0001c0004a0001c0006others(6): Show | a0001c0002t0005a0001c0002t0006a0001c0002t0009others(28): Show | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0002t0006g0125others(50): Show | 53 | 300 | 0.1767 | 5 | c.729 others(22): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
EP300_chr22_41087592_41185077 | 41126729 | C | CTTTTT | intron_variant | MODIFIER | HG00544.hp2 HG00642.hp1 HG02683.hp2 others(17): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0002a0001c0001t0011a0001c0001t0019others(2): Show | a0001c0001t0002g0206a0001c0001t0002g0207a0001c0001t0002g0208others(17): Show | 20 | 300 | 0.0667 | 5 | c.906 others(20): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
EP300_chr22_41087592_41185077 | 41154376 | C | CTTTTT | intron_variant | MODIFIER | HG01884.hp1 HG01952.hp1 HG02027.hp1 others(21): Show |
a0001a0002a0007 | a0001c0002a0001c0004a0001c0005others(2): Show | a0001c0002t0005a0001c0004t0002a0001c0004t0003others(16): Show | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(21): Show | 24 | 300 | 0.0800 | 5 | c.314 others(22): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
EP300_chr22_41087592_41185077 | 41167814 | G | GGTTTT | intron_variant | MODIFIER | HG00642.hp2 HG01106.hp2 HG01167.hp2 others(6): Show |
a0001a0002a0009 | a0001c0007a0002c0003a0002c0027others(1): Show | a0001c0007t0066a0002c0003t0001a0002c0003t0013others(3): Show | a0001c0007t0066g0194a0002c0003t0001g0149a0002c0003t0001g0152others(6): Show | 9 | 300 | 0.0300 | 5 | c.387 others(22): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | TogoVar | ||||||
EP400_chr12_131944942_132085460 | 131966903 | C | CAAAAA | intron_variant | MODIFIER | HG01261.hp2 HG02486.hp1 HG03098.hp1 others(3): Show |
a0001a0003a0011 | a0001c0006a0001c0046a0001c0056others(2): Show | a0001c0006t0001a0001c0006t0005a0001c0046t0001others(3): Show | a0001c0006t0001g0170a0001c0006t0005g0199a0001c0046t0001g0159others(3): Show | 6 | 208 | 0.0289 | 5 | c.133 others(24): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
EP400_chr12_131944942_132085460 | 132083498 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01433.hp2 HG01952.hp2 others(5): Show |
a0001a0003a0007others(1): Show | a0001c0006a0003c0008a0003c0013others(2): Show | a0001c0006t0001a0003c0008t0001a0003c0013t0001others(2): Show | a0001c0006t0001g0169a0001c0006t0001g0173a0001c0006t0001g0175others(5): Show | 8 | 208 | 0.0385 | 5 | c.*58 others(16): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 3039 | chr12 | TogoVar | ||||||
EPAS1_chr2_46292407_46391697 | 46359257 | C | CAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG00673.hp1 HG00738.hp1 others(54): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0009a0001c0001t0001g0054a0001c0001t0001g0066others(53): Show | 57 | 326 | 0.1749 | 5 | c.455 others(22): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EPB41L2_chr6_130834347_131068245 | 130933564 | A | ATATAC | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(319): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0018others(319): Show | 322 | 356 | 0.9045 | 5 | c.706 others(22): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 3/19 | chr6 | TogoVar | ||||||
EPB41L2_chr6_130834347_131068245 | 130937833 | A | AAAAAG | intron_variant | MODIFIER | HG00621.hp2 HG02055.hp1 HG02615.hp2 others(5): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0002a0001c0001t0004a0001c0013t0002 | a0001c0001t0002g0111a0001c0001t0002g0113a0001c0001t0002g0124others(5): Show | 8 | 356 | 0.0225 | 5 | c.706 others(24): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 3/19 | chr6 | TogoVar | ||||||
EPB41L2_chr6_130834347_131068245 | 130974717 | C | CTTTTT | intron_variant | MODIFIER | HG00621.hp1 HG01515.hp2 HG02602.hp1 others(6): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0141a0001c0001t0001g0142others(6): Show | 9 | 356 | 0.0253 | 5 | c.-14 others(24): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 1/19 | chr6 | TogoVar | ||||||
EPB41L2_chr6_130834347_131068245 | 131051465 | A | AAACAC | intron_variant | MODIFIER | HG00423.hp2 HG00673.hp1 HG02015.hp2 others(32): Show |
a0001a0006a0008 | a0001c0001a0001c0002a0006c0019others(1): Show | a0001c0001t0001a0001c0002t0002a0006c0019t0001others(1): Show | a0001c0001t0001g0017a0001c0001t0001g0021a0001c0001t0001g0027others(32): Show | 35 | 356 | 0.0983 | 5 | c.-15 others(24): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 1/19 | chr6 | TogoVar | ||||||
EPB41L2_chr6_130834347_131068245 | 131051465 | A | ACACAC | intron_variant | MODIFIER | HG00597.hp2 HG02523.hp2 NA18963.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0024others(2): Show | 5 | 356 | 0.0140 | 5 | c.-15 others(24): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 1/19 | chr6 | TogoVar |