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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANGEL1_chr14_76781009_76817882 | 76799330 | G | GTCGCCC | intron_variant | MODIFIER | HG00642.hp2 HG00673.hp1 HG00735.hp1 others(54): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0012a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0022others(38): Show | 57 | 396 | 0.1439 | 6 | c.161 others(25): Show |
ANGEL1 | ENSG00000013523.11 | transcript | ENST00000251089.8 | protein_coding | 7/9 | chr14 | TogoVar | ||||||
ANGEL2_chr1_212987182_213020867 | 212996622 | C | CAAAAAA | intron_variant | MODIFIER | HG00639.hp2 HG01258.hp2 HG02451.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0232a0001c0001t0003g0233a0001c0001t0003g0253others(5): Show | 8 | 392 | 0.0204 | 6 | c.148 others(23): Show |
ANGEL2 | ENSG00000174606.14 | transcript | ENST00000366962.8 | protein_coding | 8/8 | chr1 | TogoVar | ||||||
ANGEL2_chr1_212987182_213020867 | 213018750 | A | AAATAAT | upstream_gene_variant | MODIFIER | HG02071.hp2 NA18947.hp2 NA19058.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0080a0001c0001t0004g0034a0001c0001t0004g0135 | 3 | 392 | 0.0077 | 6 | c.-30 others(17): Show |
ANGEL2 | ENSG00000174606.14 | transcript | ENST00000366962.8 | protein_coding | 2884 | chr1 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107257926 | T | TTCTCTC | intron_variant | MODIFIER | HG02258.hp2 HG02818.hp1 HG02895.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0020 | a0001c0001t0002g0003a0001c0001t0002g0099a0001c0001t0002g0177others(4): Show | 7 | 292 | 0.0240 | 6 | c.133 others(25): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 8/8 | chr8 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107268406 | T | TTGTGTG | intron_variant | MODIFIER | HG00738.hp2 HG01175.hp2 HG02145.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0016others(1): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0024others(10): Show | 13 | 292 | 0.0445 | 6 | c.120 others(25): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 7/8 | chr8 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107279746 | T | TACACAC | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0095a0001c0001t0005g0067a0001c0001t0005g0096others(3): Show | 6 | 292 | 0.0206 | 6 | c.120 others(25): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 7/8 | chr8 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107282553 | C | CATATAT | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp2 HG00735.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0080a0001c0001t0001g0123a0001c0001t0001g0128others(9): Show | 12 | 292 | 0.0411 | 6 | c.120 others(25): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 7/8 | chr8 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107293197 | G | GTGATGA | intron_variant | MODIFIER | HG00621.hp2 HG02735.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013a0001c0001t0015 | a0001c0001t0002g0031a0001c0001t0002g0212a0001c0001t0013g0059others(3): Show | 6 | 292 | 0.0206 | 6 | c.103 others(23): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 6/8 | chr8 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107299391 | G | GTATATA | intron_variant | MODIFIER | HG02080.hp2 HG02109.hp2 HG02155.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0052a0001c0001t0001g0133others(7): Show | 10 | 292 | 0.0343 | 6 | c.936 others(23): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 5/8 | chr8 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107299420 | T | TATATAA | intron_variant | MODIFIER | HG01099.hp2 HG01175.hp2 HG02280.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(1): Show | a0001c0001t0001g0097a0001c0001t0002g0171a0001c0001t0016g0062others(1): Show | 4 | 292 | 0.0137 | 6 | c.936 others(23): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 5/8 | chr8 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107342782 | T | TACACAC | intron_variant | MODIFIER | HG00735.hp1 HG01256.hp1 HG01258.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0048a0001c0001t0001g0049a0001c0001t0001g0097others(2): Show | 5 | 292 | 0.0171 | 6 | c.453 others(23): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107365856 | A | AACACAC | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00597.hp1 others(55): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0012others(54): Show | 58 | 292 | 0.1986 | 6 | c.298 others(25): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107365890 | C | CACACAT | intron_variant | MODIFIER | HG00735.hp1 HG01981.hp2 HG01993.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056a0001c0001t0001g0140a0001c0001t0001g0147 | 3 | 292 | 0.0103 | 6 | c.298 others(25): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107380359 | T | TTGTGTG | intron_variant | MODIFIER | HG01109.hp1 HG02630.hp1 HG02818.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0075a0001c0001t0002g0177a0001c0001t0002g0178others(7): Show | 10 | 292 | 0.0343 | 6 | c.298 others(25): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107431364 | A | AGAGGAG | intron_variant | MODIFIER | HG00544.hp1 HG01074.hp1 HG01123.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0151a0001c0001t0001g0223a0001c0001t0001g0230others(36): Show | 39 | 292 | 0.1336 | 6 | c.297 others(25): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107449400 | G | GCACACA | intron_variant | MODIFIER | HG01074.hp1 HG01081.hp2 HG01167.hp1 others(17): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0009a0001c0001t0001g0013a0001c0001t0001g0014others(17): Show | 20 | 292 | 0.0685 | 6 | c.297 others(25): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107450705 | G | GGTGTGT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(103): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0012others(102): Show | 106 | 292 | 0.3630 | 6 | c.297 others(25): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107451316 | G | GACACAC | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(105): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0009others(105): Show | 108 | 292 | 0.3699 | 6 | c.297 others(25): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107457825 | T | TACACAC | intron_variant | MODIFIER | HG01891.hp2 HG02004.hp2 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0026 | a0001c0001t0004g0091a0001c0001t0004g0093a0001c0001t0026g0094 | 3 | 292 | 0.0103 | 6 | c.297 others(25): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107459489 | A | AAACAAC | intron_variant | MODIFIER | HG03195.hp1 HG03486.hp1 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0007 | a0001c0001t0002g0163a0001c0001t0005g0249a0001c0001t0007g0250 | 3 | 292 | 0.0103 | 6 | c.297 others(25): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
ANGPT2_chr8_6494632_6568245 | 6505239 | A | AATATAT | intron_variant | MODIFIER | HG02486.hp1 HG02486.hp2 HG02738.hp2 others(4): Show |
a0001 | a0001c0004a0001c0007a0001c0009 | a0001c0004t0012a0001c0007t0004a0001c0007t0005others(2): Show | a0001c0004t0012g0297a0001c0007t0004g0176a0001c0007t0004g0210others(4): Show | 7 | 336 | 0.0208 | 6 | c.132 others(25): Show |
ANGPT2 | ENSG00000091879.14 | transcript | ENST00000629816.3 | protein_coding | 8/8 | chr8 | TogoVar | ||||||
ANGPT2_chr8_6494632_6568245 | 6505976 | T | TTATATA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(210): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(60): Show | a0001c0001t0001g0045a0001c0001t0001g0052a0001c0001t0001g0057others(209): Show | 213 | 336 | 0.6339 | 6 | c.132 others(25): Show |
ANGPT2 | ENSG00000091879.14 | transcript | ENST00000629816.3 | protein_coding | 8/8 | chr8 | TogoVar | ||||||
ANGPT2_chr8_6494632_6568245 | 6544891 | A | AGATTCT | intron_variant | MODIFIER | HG02818.hp1 HG02922.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0006a0001c0007a0001c0014others(1): Show | a0001c0006t0005a0001c0007t0078a0001c0014t0005others(1): Show | a0001c0006t0005g0277a0001c0007t0078g0334a0001c0014t0005g0278others(2): Show | 5 | 336 | 0.0149 | 6 | c.289 others(25): Show |
ANGPT2 | ENSG00000091879.14 | transcript | ENST00000629816.3 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
ANGPT2_chr8_6494632_6568245 | 6557688 | T | TACACAC | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00597.hp2 others(43): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0007a0001c0001t0008a0001c0001t0009others(26): Show | a0001c0001t0007g0159a0001c0001t0008g0004a0001c0001t0008g0012others(42): Show | 46 | 336 | 0.1369 | 6 | c.288 others(23): Show |
ANGPT2 | ENSG00000091879.14 | transcript | ENST00000629816.3 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
ANGPT2_chr8_6494632_6568245 | 6559230 | A | AACACAC | intron_variant | MODIFIER | HG00558.hp2 HG02080.hp1 HG02135.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0106a0001c0001t0001g0160a0001c0001t0001g0162others(12): Show | 15 | 336 | 0.0446 | 6 | c.288 others(23): Show |
ANGPT2 | ENSG00000091879.14 | transcript | ENST00000629816.3 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
ANGPT4_chr20_864900_921334 | 867424 | A | ATGTGTG | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01168.hp2 HG01978.hp2 others(8): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0016 | a0001c0001t0002a0001c0001t0011a0001c0002t0008others(1): Show | a0001c0001t0002g0025a0001c0001t0002g0066a0001c0001t0002g0096others(7): Show | 11 | 432 | 0.0255 | 6 | c.*55 others(17): Show |
ANGPT4 | ENSG00000101280.8 | transcript | ENST00000381922.5 | protein_coding | 2475 | chr20 | TogoVar | ||||||
ANGPT4_chr20_864900_921334 | 867469 | T | TGTGAGA | downstream_gene_variant | MODIFIER | HG00673.hp1 HG04228.hp2 NA18939.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0024 | a0001c0001t0007g0036a0001c0001t0007g0042a0001c0001t0007g0074others(4): Show | 7 | 432 | 0.0162 | 6 | c.*54 others(17): Show |
ANGPT4 | ENSG00000101280.8 | transcript | ENST00000381922.5 | protein_coding | 2430 | chr20 | TogoVar | ||||||
ANGPT4_chr20_864900_921334 | 867469 | T | TGTGTGA | downstream_gene_variant | MODIFIER | HG01099.hp2 HG02055.hp2 HG02723.hp2 others(10): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0010a0001c0001t0001g0344a0001c0001t0001g0353others(10): Show | 13 | 432 | 0.0301 | 6 | c.*54 others(17): Show |
ANGPT4 | ENSG00000101280.8 | transcript | ENST00000381922.5 | protein_coding | 2430 | chr20 | TogoVar | ||||||
ANGPTL1_chr1_178844535_178876077 | 178856202 | G | GATATAT | intron_variant | MODIFIER | HG01358.hp1 HG01978.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017 | a0001c0001t0002g0162a0001c0001t0002g0200a0001c0001t0017g0212 | 3 | 424 | 0.0071 | 6 | c.824 others(23): Show |
ANGPTL1 | ENSG00000116194.13 | transcript | ENST00000234816.7 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
ANGPTL4_chr19_8359155_8379370 | 8368024 | C | CTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG01070.hp2 HG01346.hp2 others(7): Show |
a0001a0010 | a0001c0005a0010c0016 | a0001c0005t0001a0010c0016t0001 | a0001c0005t0001g0007a0001c0005t0001g0080a0010c0016t0001g0007 | 10 | 408 | 0.0245 | 6 | c.548 others(23): Show |
ANGPTL4 | ENSG00000167772.12 | transcript | ENST00000301455.7 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ANGPTL5_chr11_101885674_101921522 | 101901015 | C | CTTTTTT | intron_variant | MODIFIER | HG02615.hp2 HG02647.hp1 HG03130.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0009 | a0002c0002t0001g0041a0002c0002t0001g0043a0002c0002t0001g0181others(3): Show | 8 | 422 | 0.0190 | 6 | c.541 others(21): Show |
ANGPTL5 | ENSG00000187151.7 | transcript | ENST00000334289.7 | protein_coding | 6/8 | chr11 | TogoVar | ||||||
ANGPTL6_chr19_10087338_10107678 | 10088953 | T | TATAATA | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00639.hp1 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(26): Show | 40 | 462 | 0.0866 | 6 | c.*36 others(17): Show |
ANGPTL6 | ENSG00000130812.11 | transcript | ENST00000253109.5 | protein_coding | 3384 | chr19 | TogoVar | ||||||
ANHX_chr12_133213312_133240877 | 133239641 | C | CTATCTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(411): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0006a0001c0011others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(313): Show | 414 | 442 | 0.9367 | 6 | c.-38 others(17): Show |
ANHX | ENSG00000227059.7 | transcript | ENST00000545940.6 | protein_coding | 3765 | chr12 | TogoVar | ||||||
ANK1_chr8_41648225_41802622 | 41655129 | G | GGTGTGT | 3_prime_UTR_variant | MODIFIER | HG01123.hp2 HG01261.hp1 HG06807.hp1 |
a0001a0013 | a0001c0002a0001c0006a0013c0041 | a0001c0002t0012a0001c0006t0018a0013c0041t0012 | a0001c0002t0012g0022a0001c0006t0018g0117a0013c0041t0012g0174 | 3 | 278 | 0.0108 | 6 | c.*65 others(15): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 43/43 | 6336 | chr8 | TogoVar | |||||
ANK1_chr8_41648225_41802622 | 41663098 | G | GTCTCTC | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(70): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0002a0001c0001t0013a0001c0001t0023others(23): Show | a0001c0001t0002g0009a0001c0001t0002g0020a0001c0001t0002g0024others(70): Show | 73 | 278 | 0.2626 | 6 | c.547 others(23): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 40/42 | chr8 | TogoVar | ||||||
ANK1_chr8_41648225_41802622 | 41663114 | C | CTCTCTG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(44): Show |
a0001a0003a0010 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(14): Show | a0001c0001t0001g0160a0001c0001t0001g0214a0001c0001t0001g0226others(44): Show | 47 | 278 | 0.1691 | 6 | c.547 others(23): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 40/42 | chr8 | TogoVar | ||||||
ANK1_chr8_41648225_41802622 | 41663114 | C | CTCTGTG | intron_variant | MODIFIER | HG02015.hp1 HG02572.hp2 HG02630.hp2 others(4): Show |
a0001a0004a0007 | a0001c0001a0004c0011a0004c0020others(1): Show | a0001c0001t0001a0004c0011t0001a0004c0020t0001others(1): Show | a0001c0001t0001g0242a0004c0011t0001g0186a0004c0011t0001g0187others(4): Show | 7 | 278 | 0.0252 | 6 | c.547 others(23): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 40/42 | chr8 | TogoVar | ||||||
ANK2_chr4_113044653_113388736 | 113048248 | G | GTATATA | upstream_gene_variant | MODIFIER | NA18977.hp1 NA18980.hp2 NA18995.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0042a0001c0001t0001g0044a0002c0003t0001g0048 | 3 | 178 | 0.0169 | 6 | c.-14 others(17): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 1404 | chr4 | TogoVar | ||||||
ANK2_chr4_113044653_113388736 | 113135521 | C | CTGTGTG | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00558.hp2 others(65): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0001others(10): Show | a0001c0001t0001g0009a0001c0001t0001g0014a0001c0001t0001g0022others(65): Show | 68 | 178 | 0.3820 | 6 | c.85- others(23): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 1/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANK2_chr4_113044653_113388736 | 113149874 | C | CAAAAAA | intron_variant | MODIFIER | HG00642.hp2 HG02630.hp1 HG03579.hp1 others(2): Show |
a0001a0002a0016 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0131a0002c0002t0001g0089a0002c0003t0001g0115others(2): Show | 5 | 178 | 0.0281 | 6 | c.85- others(23): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 1/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANK2_chr4_113044653_113388736 | 113159191 | C | CCACACA | intron_variant | MODIFIER | HG01433.hp2 HG01891.hp1 HG02040.hp2 others(25): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0004a0002c0002others(8): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(8): Show | a0001c0001t0001g0030a0001c0001t0001g0039a0001c0001t0001g0040others(25): Show | 28 | 178 | 0.1573 | 6 | c.85- others(23): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 1/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANK2_chr4_113044653_113388736 | 113161695 | C | CGTGTGT | intron_variant | MODIFIER | HG02970.hp2 HG03225.hp2 |
a0001a0002 | a0001c0001a0002c0023 | a0001c0001t0001a0002c0023t0001 | a0001c0001t0001g0099a0002c0023t0001g0058 | 2 | 178 | 0.0112 | 6 | c.85- others(23): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 1/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANK2_chr4_113044653_113388736 | 113182961 | T | TGAGAGA | intron_variant | MODIFIER | HG00639.hp1 HG01255.hp2 HG01884.hp2 others(10): Show |
a0001a0002a0010 | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0015a0001c0001t0001g0046a0001c0001t0001g0078others(10): Show | 13 | 178 | 0.0730 | 6 | c.186 others(23): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 2/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANK2_chr4_113044653_113388736 | 113233106 | G | GTTTTTT | intron_variant | MODIFIER | HG01346.hp1 HG02293.hp1 HG02572.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0043others(3): Show | 6 | 178 | 0.0337 | 6 | c.483 others(21): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 5/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANK2_chr4_113044653_113388736 | 113271479 | G | GACACAC | intron_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG00738.hp1 others(23): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0003others(4): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0004others(5): Show | a0001c0001t0001g0027a0001c0001t0001g0044a0001c0001t0001g0073others(23): Show | 26 | 178 | 0.1461 | 6 | c.148 others(25): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 14/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANK2_chr4_113044653_113388736 | 113299319 | G | GGACAAA | intron_variant | MODIFIER | HG01884.hp2 HG03453.hp1 |
a0002a0003 | a0002c0035a0003c0034 | a0002c0035t0001a0003c0034t0001 | a0002c0035t0001g0169a0003c0034t0001g0056 | 2 | 178 | 0.0112 | 6 | c.247 others(25): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 22/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANK2_chr4_113044653_113388736 | 113333298 | A | ATGTGTG | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02559.hp2 others(3): Show |
a0004a0016 | a0004c0005a0016c0028 | a0004c0005t0001a0016c0028t0001 | a0004c0005t0001g0019a0004c0005t0001g0068a0004c0005t0001g0072others(3): Show | 6 | 178 | 0.0337 | 6 | c.337 others(23): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 29/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANK2_chr4_113044653_113388736 | 113365201 | A | ATGTGTG | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG01106.hp1 others(4): Show |
a0002a0003 | a0002c0003a0002c0023a0002c0027others(2): Show | a0002c0003t0001a0002c0023t0001a0002c0027t0008others(2): Show | a0002c0003t0001g0098a0002c0023t0001g0058a0002c0027t0008g0076others(4): Show | 7 | 178 | 0.0393 | 6 | c.110 others(23): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 41/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANK3_chr10_60021298_60394875 | 60064672 | G | GCAACAA | intron_variant | MODIFIER | HG02451.hp2 HG02970.hp2 HG03139.hp1 others(1): Show |
a0001a0014 | a0001c0001a0014c0060 | a0001c0001t0008a0001c0001t0042a0001c0001t0044others(1): Show | a0001c0001t0008g0047a0001c0001t0042g0145a0001c0001t0044g0189others(1): Show | 4 | 192 | 0.0208 | 6 | c.123 others(25): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 38/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60064675 | A | ACAACAG | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00609.hp2 others(66): Show |
a0001a0003a0004others(10): Show | a0001c0001a0001c0002a0001c0005others(37): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(54): Show | a0001c0001t0001g0060a0001c0001t0001g0119a0001c0001t0001g0120others(66): Show | 69 | 192 | 0.3594 | 6 | c.123 others(25): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 38/43 | chr10 | TogoVar |