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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENOX1_chr13_43208130_43791972 | 43589636 | C | CTATACTT | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(168): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0080 a0001c0001t0001g0098 a0001c0001t0002g0006 others(168): Show |
171 | 186 | 0.9194 | 7 | c.-21 others(28): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43593492 | A | AACAAAAC | intron_variant | MODIFIER | HG01257.hp1 HG01515.hp2 HG01516.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0010others(1): Show | a0001c0001t0005g0145 a0001c0001t0008g0092 a0001c0001t0010g0099 others(1): Show |
4 | 115 | 0.0348 | 7 | c.-21 others(28): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43616204 | A | ATATTTTT | intron_variant | MODIFIER | HG01243.hp1 HG01261.hp1 HG02080.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0002g0059 a0001c0001t0005g0185 a0001c0001t0007g0183 others(2): Show |
5 | 47 | 0.1064 | 7 | c.-21 others(28): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | |||||||
ENPP1_chr6_131803020_131900155 | 131866007 | A | AAAAAGAG | intron_variant | MODIFIER | HG02622.hp1 HG02647.hp1 HG02717.hp1 others(3): Show |
a0002a0009 | a0002c0002a0002c0004a0009c0022 | a0002c0002t0010a0002c0002t0028a0002c0004t0027others(1): Show | a0002c0002t0010g0232 a0002c0002t0028g0120 a0002c0002t0028g0122 others(3): Show |
6 | 183 | 0.0328 | 7 | c.116 others(26): Show |
ENPP1 | ENSG00000197594.14 | transcript | ENST00000647893.1 | protein_coding | 11/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ENPP2_chr8_119552086_119643839 | 119605465 | T | TGTGTGTA | intron_variant | MODIFIER | NA18946.hp2 NA19000.hp1 NA19001.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 a0001c0001t0001g0103 a0001c0001t0001g0237 others(2): Show |
5 | 320 | 0.0156 | 7 | c.833 others(24): Show |
ENPP2 | ENSG00000136960.13 | transcript | ENST00000075322.11 | protein_coding | 9/24 | chr8 | TogoVar | |||||||
ENPP2_chr8_119552086_119643839 | 119610903 | T | TAAAAAAA | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG01891.hp2 others(21): Show |
a0001a0005a0006 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0001a0001c0003t0003a0001c0004t0002others(4): Show | a0001c0002t0001g0040 a0001c0002t0001g0045 a0001c0002t0001g0071 others(21): Show |
24 | 285 | 0.0842 | 7 | c.778 others(24): Show |
ENPP2 | ENSG00000136960.13 | transcript | ENST00000075322.11 | protein_coding | 8/24 | chr8 | TogoVar | |||||||
ENPP3_chr6_131632302_131752410 | 131639265 | A | ATATATAT | intron_variant | MODIFIER | HG02486.hp1 HG02970.hp2 NA18946.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0037 a0001c0001t0001g0113 a0001c0001t0001g0114 others(3): Show |
6 | 59 | 0.1017 | 7 | c.78+ others(22): Show |
ENPP3 | ENSG00000154269.15 | transcript | ENST00000357639.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ENPP3_chr6_131632302_131752410 | 131639265 | A | ATATATTT | intron_variant | MODIFIER | HG02056.hp1 NA18955.hp1 NA18964.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 others(2): Show |
5 | 58 | 0.0862 | 7 | c.78+ others(22): Show |
ENPP3 | ENSG00000154269.15 | transcript | ENST00000357639.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ENPP3_chr6_131632302_131752410 | 131692800 | T | TATATATG | intron_variant | MODIFIER | HG01952.hp2 HG02055.hp1 HG02630.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 others(4): Show |
7 | 274 | 0.0255 | 7 | c.128 others(24): Show |
ENPP3 | ENSG00000154269.15 | transcript | ENST00000357639.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ENPP3_chr6_131632302_131752410 | 131699235 | C | CAAAAAAA | intron_variant | MODIFIER | HG02922.hp1 HG02965.hp1 HG03041.hp1 others(3): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0012 a0004c0004t0001g0027 a0004c0004t0001g0029 others(3): Show |
6 | 142 | 0.0423 | 7 | c.141 others(26): Show |
ENPP3 | ENSG00000154269.15 | transcript | ENST00000357639.8 | protein_coding | 15/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ENPP6_chr4_184083706_184222873 | 184131201 | C | CTTTCTTT | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG01074.hp2 others(17): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(5): Show | a0001c0002t0001g0152 a0001c0002t0002g0073 a0001c0002t0002g0090 others(17): Show |
20 | 240 | 0.0833 | 7 | c.422 others(24): Show |
ENPP6 | ENSG00000164303.11 | transcript | ENST00000296741.7 | protein_coding | 2/7 | chr4 | TogoVar | |||||||
ENPP6_chr4_184083706_184222873 | 184206251 | A | ATTCTTTT | intron_variant | MODIFIER | HG00609.hp1 HG00738.hp2 HG01433.hp2 others(4): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0002a0001c0002t0004a0001c0003t0016others(2): Show | a0001c0002t0002g0036 a0001c0002t0002g0039 a0001c0002t0004g0040 others(4): Show |
7 | 106 | 0.0660 | 7 | c.241 others(26): Show |
ENPP6 | ENSG00000164303.11 | transcript | ENST00000296741.7 | protein_coding | 1/7 | chr4 | TogoVar | |||||||
ENTPD1_chr10_95751163_95882266 | 95760814 | C | CTTTTTTT | intron_variant | MODIFIER | HG00597.hp2 HG00733.hp2 HG00738.hp1 others(22): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0001g0305 a0001c0001t0001g0308 a0001c0001t0001g0309 others(22): Show |
25 | 63 | 0.3968 | 7 | 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 | 40397119 | C | CTTTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00738.hp1 others(8): Show |
a0001a0002a0012 | a0001c0001a0002c0002a0012c0013 | a0001c0001t0005a0002c0002t0002a0002c0002t0008others(1): Show | a0001c0001t0005g0049 a0002c0002t0002g0011 a0002c0002t0002g0069 others(5): Show |
11 | 30 | 0.3667 | 7 | c.169 others(24): Show |
ENTPD3 | ENSG00000168032.10 | transcript | ENST00000301825.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ENTPD3_chr3_40382184_40433744 | 40402117 | T | TTTTTTTC | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG00642.hp1 others(68): Show |
a0001a0005a0008 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0038 others(50): Show |
71 | 372 | 0.1909 | 7 | c.286 others(24): Show |
ENTPD3 | ENSG00000168032.10 | transcript | ENST00000301825.8 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ENTPD3_chr3_40382184_40433744 | 40402123 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(149): Show |
a0001a0003a0007others(1): Show | a0001c0001a0001c0011a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0012 others(89): Show |
152 | 164 | 0.9268 | 7 | c.286 others(24): Show |
ENTPD3 | ENSG00000168032.10 | transcript | ENST00000301825.8 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ENTPD3_chr3_40382184_40433744 | 40411308 | A | AAAAAAAG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(186): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0038 others(132): Show |
189 | 372 | 0.5081 | 7 | c.287 others(22): Show |
ENTPD3 | ENSG00000168032.10 | transcript | ENST00000301825.8 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ENTPD4_chr8_23424162_23462647 | 23427124 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00621.hp2 HG01081.hp1 HG03017.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0003t0001g0004 others(1): Show |
6 | 47 | 0.1277 | 7 | c.*57 others(18): Show |
ENTPD4 | ENSG00000197217.13 | transcript | ENST00000358689.9 | protein_coding | 2037 | chr8 | TogoVar | |||||||
ENTPD5_chr14_73958230_74024288 | 74001666 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG01069.hp1 HG01071.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0034 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0152 others(10): Show |
16 | 47 | 0.3404 | 7 | c.-71 others(24): Show |
ENTPD5 | ENSG00000187097.13 | transcript | ENST00000334696.11 | protein_coding | 3/15 | chr14 | TogoVar | |||||||
ENTPD7_chr10_99654509_99716241 | 99687259 | C | CTTTCTTT | intron_variant | MODIFIER | HG00423.hp1 HG00639.hp2 HG01071.hp2 others(39): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 others(31): Show |
42 | 48 | 0.8750 | 7 | c.652 others(24): Show |
ENTPD7 | ENSG00000198018.7 | transcript | ENST00000370489.5 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ENTREP1_chr9_69320215_69397456 | 69366384 | G | GTTTTTTT | intron_variant | MODIFIER | HG02622.hp1 HG03098.hp2 HG03209.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0061 a0001c0001t0001g0212 a0001c0001t0001g0308 others(2): Show |
5 | 202 | 0.0248 | 7 | c.472 others(24): Show |
ENTREP1 | ENSG00000135063.20 | transcript | ENST00000303068.14 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29231885 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG01081.hp1 others(12): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0015a0003c0014others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0045others(6): Show | a0001c0001t0001g0042 a0001c0001t0001g0069 a0001c0001t0001g0078 others(12): Show |
15 | 114 | 0.1316 | 7 | c.387 others(26): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 3/10 | chr15 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29368337 | A | AAAAATAT | intron_variant | MODIFIER | HG00642.hp2 HG02622.hp2 HG02965.hp2 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0010others(7): Show | a0001c0001t0001a0001c0002t0016a0001c0010t0025others(8): Show | a0001c0001t0001g0042 a0001c0002t0016g0009 a0001c0010t0025g0001 others(9): Show |
12 | 89 | 0.1348 | 7 | c.276 others(26): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 2/10 | chr15 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29368337 | A | ATATATAT | intron_variant | MODIFIER | HG00423.hp2 HG03041.hp2 |
a0004a0006 | a0004c0017a0006c0033 | a0004c0017t0014a0006c0033t0049 | a0004c0017t0014g0022 a0006c0033t0049g0123 |
2 | 79 | 0.0253 | 7 | c.276 others(26): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 2/10 | chr15 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29377864 | A | ATAATAAT | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 a0001c0001t0001g0068 |
2 | 122 | 0.0164 | 7 | c.276 others(24): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 2/10 | chr15 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29548453 | T | TAAAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp1 HG02258.hp1 others(9): Show |
a0001a0002a0003others(3): Show | a0001c0010a0001c0019a0002c0004others(7): Show | a0001c0010t0001a0001c0019t0001a0002c0004t0003others(8): Show | a0001c0010t0001g0088 a0001c0019t0001g0033 a0002c0004t0003g0101 others(9): Show |
12 | 62 | 0.1935 | 7 | c.219 others(26): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
ENY2_chr8_109329347_109350954 | 109347760 | T | TTAAATGA | downstream_gene_variant | MODIFIER | HG01167.hp1 HG02109.hp2 HG02258.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0086 |
8 | 426 | 0.0188 | 7 | c.*42 others(18): Show |
ENY2 | ENSG00000120533.13 | transcript | ENST00000521688.6 | protein_coding | 1807 | chr8 | TogoVar | |||||||
EOMES_chr3_27710953_27727323 | 27711317 | T | TATATATA | downstream_gene_variant | MODIFIER | HG00280.hp2 HG01993.hp2 HG02559.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0003others(1): Show | a0001c0001t0001g0022 a0001c0001t0001g0028 a0002c0002t0002g0004 others(2): Show |
5 | 374 | 0.0134 | 7 | c.*57 others(18): Show |
EOMES | ENSG00000163508.13 | transcript | ENST00000449599.4 | protein_coding | 4635 | chr3 | TogoVar | |||||||
EP300_chr22_41087592_41185077 | 41088007 | A | AAAAAAAG | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(83): Show |
a0001a0005a0011 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(26): Show | a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0001g0261 others(83): Show |
86 | 153 | 0.5621 | 7 | c.-49 others(18): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4584 | chr22 | TogoVar | |||||||
EP300_chr22_41087592_41185077 | 41126729 | C | CTTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00558.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0002 | a0001c0001t0001g0205 a0001c0001t0001g0215 a0001c0001t0001g0222 others(10): Show |
13 | 40 | 0.3250 | 7 | c.906 others(22): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
EP300_chr22_41087592_41185077 | 41154376 | C | CTTTTTTT | intron_variant | MODIFIER | HG01891.hp1 HG02886.hp2 HG03098.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0004a0001c0004t0001a0001c0006t0001 | a0001c0001t0004g0187 a0001c0001t0004g0189 a0001c0001t0004g0195 others(3): Show |
6 | 85 | 0.0706 | 7 | c.314 others(24): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
EP400_chr12_131944942_132085460 | 131966562 | C | CAAAAAAA | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02976.hp1 others(2): Show |
a0001a0003 | a0001c0026a0003c0009a0003c0010 | a0001c0026t0002a0003c0009t0004a0003c0010t0004 | a0001c0026t0002g0201 a0003c0009t0004g0078 a0003c0009t0004g0155 others(2): Show |
5 | 89 | 0.0562 | 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 | 131996295 | C | CTTTTTTT | intron_variant | MODIFIER | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(38): Show |
a0001a0002a0003others(4): Show | a0001c0006a0001c0046a0001c0049others(17): Show | a0001c0006t0001a0001c0006t0005a0001c0046t0001others(19): Show | a0001c0006t0001g0168 a0001c0006t0001g0169 a0001c0006t0001g0172 others(38): Show |
41 | 180 | 0.2278 | 7 | c.282 others(26): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EP400_chr12_131944942_132085460 | 132083498 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00280.hp2 HG02083.hp1 HG02486.hp1 others(3): Show |
a0004a0008a0010others(1): Show | a0004c0008a0008c0038a0010c0019others(1): Show | a0004c0008t0001a0008c0038t0001a0010c0019t0001others(1): Show | a0004c0008t0001g0159 a0004c0008t0001g0165 a0004c0008t0001g0194 others(3): Show |
6 | 59 | 0.1017 | 7 | c.*58 others(18): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 3039 | chr12 | TogoVar | |||||||
EPAS1_chr2_46292407_46391697 | 46359257 | C | CAAAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG02896.hp1 HG02897.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(2): Show | a0001c0001t0001g0178 a0001c0001t0003g0288 a0001c0001t0008g0001 others(2): Show |
6 | 67 | 0.0896 | 7 | c.455 others(24): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EPB41L2_chr6_130834347_131068245 | 130861874 | C | CAAAAAAA | intron_variant | MODIFIER | HG00741.hp1 HG02896.hp1 HG02897.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0154 others(7): Show |
10 | 245 | 0.0408 | 7 | c.291 others(26): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 18/19 | chr6 | TogoVar | |||||||
EPB41L2_chr6_130834347_131068245 | 130954040 | C | CTTTTTTT | intron_variant | MODIFIER | HG01943.hp1 HG02735.hp1 HG03225.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0262 a0001c0001t0002g0297 a0001c0001t0002g0303 others(3): Show |
6 | 51 | 0.1176 | 7 | c.705 others(24): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 3/19 | chr6 | TogoVar | |||||||
EPB41L3_chr18_5387386_5548997 | 5498594 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(147): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0025 others(147): Show |
150 | 189 | 0.7937 | 7 | c.-11 others(24): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | TogoVar | |||||||
EPB41L3_chr18_5387386_5548997 | 5533857 | T | TACAAGTG | intron_variant | MODIFIER | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(79): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0018 others(79): Show |
82 | 220 | 0.3727 | 7 | c.-12 others(26): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | TogoVar | |||||||
EPB41L3_chr18_5387386_5548997 | 5541252 | C | CAAAAAAA | intron_variant | MODIFIER | HG01433.hp1 HG01952.hp2 HG02976.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0013a0001c0002t0002others(1): Show | a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0013g0026 others(4): Show |
7 | 44 | 0.1591 | 7 | c.-12 others(24): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | TogoVar | |||||||
EPB41L3_chr18_5387386_5548997 | 5547053 | T | TCTTACTA | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(172): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0005others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0011 others(171): Show |
175 | 220 | 0.7955 | 7 | c.-31 others(18): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3057 | chr18 | TogoVar | |||||||
EPB41L4A_chr5_112157619_112424277 | 112208244 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG00733.hp2 others(7): Show |
a0001a0004a0015 | a0001c0001a0001c0002a0004c0006others(1): Show | a0001c0001t0029a0001c0002t0001a0001c0002t0036others(3): Show | a0001c0001t0029g0004 a0001c0002t0001g0193 a0001c0002t0036g0157 others(7): Show |
10 | 50 | 0.2000 | 7 | c.117 others(26): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 13/22 | chr5 | TogoVar | |||||||
EPB41L4A_chr5_112157619_112424277 | 112339542 | A | ATATATAT | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp2 HG01099.hp2 others(8): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0007a0001c0001t0037a0001c0002t0001others(4): Show | a0001c0001t0007g0125 a0001c0001t0037g0127 a0001c0002t0001g0083 others(8): Show |
11 | 127 | 0.0866 | 7 | c.100 others(26): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 1/22 | chr5 | TogoVar | |||||||
EPB41L4A_chr5_112157619_112424277 | 112339543 | T | TATATATA | intron_variant | MODIFIER | HG00738.hp2 HG01123.hp2 HG01993.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0001 | a0001c0001t0005g0143 a0001c0001t0005g0199 a0001c0002t0001g0142 others(1): Show |
4 | 226 | 0.0177 | 7 | c.100 others(26): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 1/22 | chr5 | TogoVar | |||||||
EPB41L4A_chr5_112157619_112424277 | 112346216 | A | ATTTTTTT | intron_variant | MODIFIER | HG00558.hp2 HG02132.hp1 HG03471.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0005a0001c0002t0001a0001c0002t0039others(3): Show | a0001c0001t0005g0148 a0001c0002t0001g0196 a0001c0002t0039g0108 others(3): Show |
6 | 45 | 0.1333 | 7 | c.100 others(26): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 1/22 | chr5 | TogoVar | |||||||
EPB41L4B_chr9_109166974_109326059 | 109178902 | T | TAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(103): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0012others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 others(101): Show |
106 | 153 | 0.6928 | 7 | c.248 others(26): Show |
EPB41L4B | ENSG00000095203.15 | transcript | ENST00000374566.8 | protein_coding | 24/25 | chr9 | TogoVar | |||||||
EPB41L4B_chr9_109166974_109326059 | 109288722 | C | CAAAAAAA | intron_variant | MODIFIER | NA18964.hp2 NA18977.hp1 NA18983.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(1): Show | a0001c0001t0001g0041 a0001c0001t0001g0108 a0001c0001t0003g0286 others(4): Show |
7 | 17 | 0.4118 | 7 | c.307 others(24): Show |
EPB41L4B | ENSG00000095203.15 | transcript | ENST00000374566.8 | protein_coding | 1/25 | chr9 | TogoVar | |||||||
EPB41L5_chr2_120008077_120184119 | 120061031 | G | GTTTTTTT | intron_variant | MODIFIER | HG01257.hp1 HG02280.hp2 HG02622.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0009a0002c0002t0001 | a0001c0001t0006g0126 a0001c0001t0006g0127 a0001c0001t0009g0138 others(7): Show |
10 | 99 | 0.1010 | 7 | c.286 others(26): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EPB41L5_chr2_120008077_120184119 | 120163980 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00609.hp2 others(126): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(14): Show | a0001c0001t0004g0113 a0001c0001t0004g0115 a0001c0001t0004g0117 others(126): Show |
129 | 234 | 0.5513 | 7 | c.188 others(24): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EPB41_chr1_28909569_29125041 | 28934666 | T | TTTGTGTG | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00558.hp1 others(45): Show |
a0001a0007 | a0001c0001a0001c0003a0007c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 others(45): Show |
48 | 54 | 0.8889 | 7 | c.-8+ others(24): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |