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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENOX2_chrX_130617325_130908209 | 130824879 | G | GACAATTT | intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0007 | 1 | 154 | 0.0065 | 7 | c.-18 others(28): Show |
ENOX2 | ENSG00000165675.19 | transcript | ENST00000394363.6 | protein_coding | 2/14 | chrX | TogoVar | ||||||
ENPP1_chr6_131803020_131900155 | 131866007 | A | AAAAAGAG | intron_variant | MODIFIER | HG02622.hp1 HG02647.hp1 HG02717.hp1 others(3): Show |
a0002a0010 | a0002c0002a0002c0004a0010c0022 | a0002c0002t0010a0002c0002t0026a0002c0004t0025others(1): Show | a0002c0002t0010g0234a0002c0002t0026g0132a0002c0002t0026g0134others(3): Show | 6 | 292 | 0.0206 | 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 | a0001c0001t0001g0083a0001c0001t0001g0103a0001c0001t0001g0237others(2): Show | 5 | 340 | 0.0147 | 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 | a0001c0002t0001g0040a0001c0002t0001g0045a0001c0002t0001g0071others(21): Show | 24 | 340 | 0.0706 | 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 | a0001c0001t0001g0036a0001c0001t0001g0112a0001c0001t0001g0113others(3): Show | 6 | 278 | 0.0216 | 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 | a0001c0002t0001g0038a0001c0002t0001g0039a0001c0002t0001g0040others(2): Show | 5 | 278 | 0.0180 | 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 | a0001c0002t0001g0075a0001c0002t0001g0076a0001c0002t0001g0077others(4): Show | 7 | 278 | 0.0252 | 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 | a0004c0004t0001g0011a0004c0004t0001g0026a0004c0004t0001g0028others(3): Show | 6 | 278 | 0.0216 | 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 | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(6): Show | a0001c0002t0001g0151a0001c0002t0002g0072a0001c0002t0002g0089others(17): Show | 20 | 320 | 0.0625 | 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 | a0001c0002t0002a0001c0002t0005a0001c0003t0018others(2): Show | a0001c0002t0002g0035a0001c0002t0002g0038a0001c0002t0005g0039others(4): Show | 7 | 320 | 0.0219 | 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 | a0001c0001t0001g0311a0001c0001t0001g0314a0001c0001t0001g0315others(22): Show | 25 | 340 | 0.0735 | 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 |
a0001a0002a0011 | a0001c0001a0002c0002a0011c0013 | a0001c0001t0005a0002c0002t0002a0002c0002t0008others(1): Show | a0001c0001t0005g0053a0002c0002t0002g0022a0002c0002t0002g0070others(7): Show | 11 | 374 | 0.0294 | 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 |
a0001a0006a0008 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0008a0001c0001t0002g0011a0001c0001t0002g0037others(52): Show | 71 | 374 | 0.1898 | 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 |
a0001a0003a0009others(1): Show | a0001c0001a0001c0011a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(105): Show | 152 | 374 | 0.4064 | 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(187): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0002g0008a0001c0001t0002g0011a0001c0001t0002g0037others(146): Show | 190 | 374 | 0.5080 | 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 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0003t0001g0004others(1): Show | 6 | 412 | 0.0146 | 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 | a0001c0001t0001g0009a0001c0001t0001g0011a0001c0001t0001g0150others(11): Show | 16 | 380 | 0.0421 | 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 | a0001c0001t0002g0219a0001c0001t0002g0220a0001c0001t0002g0221others(31): Show | 42 | 408 | 0.1029 | 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 | a0001c0001t0001g0060a0001c0001t0001g0213a0001c0001t0001g0311others(2): Show | 5 | 342 | 0.0146 | 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 | a0001c0001t0001g0042a0001c0001t0001g0069a0001c0001t0001g0078others(12): Show | 15 | 125 | 0.1200 | 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 | a0001c0001t0001g0042a0001c0002t0016g0005a0001c0010t0025g0001others(9): Show | 12 | 125 | 0.0960 | 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 | a0004c0017t0014g0013a0006c0033t0049g0123 | 2 | 125 | 0.0160 | 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 | a0001c0001t0001g0047a0001c0001t0001g0068 | 2 | 125 | 0.0160 | 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 | a0001c0010t0001g0088a0001c0019t0001g0033a0002c0004t0003g0101others(9): Show | 12 | 125 | 0.0960 | 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 | a0001c0001t0001g0007a0001c0001t0001g0089 | 8 | 428 | 0.0187 | 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 | a0001c0001t0001a0002c0002t0002a0002c0002t0004others(1): Show | a0001c0001t0001g0023a0001c0001t0001g0030a0002c0002t0002g0004others(2): Show | 5 | 400 | 0.0125 | 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 |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0003a0001c0001t0008a0001c0002t0003others(42): Show | a0001c0001t0003g0256a0001c0001t0003g0260a0001c0001t0008g0261others(83): Show | 86 | 300 | 0.2867 | 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 | a0001c0001t0002a0001c0001t0008a0001c0001t0019others(1): Show | a0001c0001t0002g0215a0001c0001t0002g0222a0001c0001t0002g0223others(10): Show | 13 | 300 | 0.0433 | 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 | a0001c0001t0015a0001c0001t0041a0001c0004t0004others(1): Show | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0041g0187others(3): Show | 6 | 300 | 0.0200 | 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 |
a0001a0004a0006 | a0001c0026a0004c0009a0006c0010 | a0001c0026t0002a0004c0009t0004a0006c0010t0004 | a0001c0026t0002g0201a0004c0009t0004g0078a0004c0009t0004g0156others(2): Show | 5 | 208 | 0.0240 | 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(9): Show | a0001c0006a0001c0046a0001c0056others(17): Show | a0001c0006t0001a0001c0006t0005a0001c0046t0001others(19): Show | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(38): Show | 41 | 208 | 0.1971 | 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 |
a0003a0013a0018others(1): Show | a0003c0008a0013c0019a0018c0038others(1): Show | a0003c0008t0001a0013c0019t0001a0018c0038t0001others(1): Show | a0003c0008t0001g0160a0003c0008t0001g0166a0003c0008t0001g0194others(3): Show | 6 | 208 | 0.0289 | 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 | a0001c0001t0001g0178a0001c0001t0003g0290a0001c0001t0008g0001others(2): Show | 6 | 326 | 0.0184 | 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 | a0001c0001t0001g0144a0001c0001t0001g0149a0001c0001t0001g0155others(7): Show | 10 | 356 | 0.0281 | 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 | a0001c0001t0001g0261a0001c0001t0002g0297a0001c0001t0002g0303others(3): Show | 6 | 356 | 0.0169 | 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(148): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0024others(148): Show | 151 | 222 | 0.6802 | 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(80): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0017others(80): Show | 83 | 222 | 0.3739 | 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 | a0001c0001t0001g0021a0001c0001t0001g0024a0001c0001t0013g0025others(4): Show | 7 | 222 | 0.0315 | 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(173): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0005others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(173): Show | 176 | 222 | 0.7928 | 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 |
a0001a0005a0010 | a0001c0001a0001c0002a0005c0006others(1): Show | a0001c0001t0029a0001c0002t0001a0001c0002t0036others(3): Show | a0001c0001t0029g0005a0001c0002t0001g0193a0001c0002t0036g0125others(7): Show | 10 | 228 | 0.0439 | 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 |
a0001a0005 | a0001c0001a0001c0002a0005c0006 | a0001c0001t0007a0001c0001t0037a0001c0002t0001others(4): Show | a0001c0001t0007g0147a0001c0001t0037g0135a0001c0002t0001g0083others(8): Show | 11 | 228 | 0.0483 | 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 | a0001c0001t0005g0113a0001c0001t0005g0199a0001c0002t0001g0112others(1): Show | 4 | 228 | 0.0175 | 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 | a0001c0001t0005g0116a0001c0002t0001g0196a0001c0002t0039g0173others(3): Show | 6 | 228 | 0.0263 | 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 | a0001c0001t0001g0038a0001c0001t0001g0041a0001c0001t0001g0042others(101): Show | 106 | 318 | 0.3333 | 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 | a0001c0001t0001g0041a0001c0001t0001g0108a0001c0001t0003g0286others(4): Show | 7 | 318 | 0.0220 | 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 | a0001c0001t0006g0126a0001c0001t0006g0127a0001c0001t0009g0138others(7): Show | 10 | 278 | 0.0360 | 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 | a0001c0001t0004g0113a0001c0001t0004g0115a0001c0001t0004g0117others(126): Show | 129 | 278 | 0.4640 | 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 |
a0001a0004 | a0001c0001a0001c0003a0004c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0038a0001c0001t0001g0039a0001c0001t0001g0042others(45): Show | 48 | 312 | 0.1539 | 7 | c.-8+ others(24): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EPB41_chr1_28909569_29125041 | 29106564 | A | ATTTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG01074.hp1 HG01099.hp1 others(14): Show |
a0001a0008 | a0001c0001a0001c0003a0008c0006 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0002g0233a0001c0001t0002g0261a0001c0001t0004g0295others(14): Show | 17 | 312 | 0.0545 | 7 | c.231 others(26): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EPC1_chr10_32262751_32352158 | 32290483 | C | CTCAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp2 HG01074.hp1 others(47): Show |
a0001a0002 | a0001c0001a0001c0012a0001c0013others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0001g0041a0001c0001t0001g0068a0001c0001t0001g0081others(47): Show | 50 | 318 | 0.1572 | 7 | c.975 others(22): Show |
EPC1 | ENSG00000120616.16 | transcript | ENST00000319778.11 | protein_coding | 6/13 | chr10 | TogoVar |