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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AKT3_chr1_243494724_243855243 | 243832120 | TAAAAAAA others(17): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02818.hp1 HG03195.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0050 | a0001c0001t0005g0285a0001c0001t0005g0294a0001c0001t0005g0296others(2): Show | 5 | 301 | 0.0166 | -24 | c.46+ others(41): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 2/13 | chr1 | TogoVar | ||||||
ALAS1_chr3_52193160_52219327 | 52193983 | AAAAGAAA others(17): Show |
A | upstream_gene_variant | MODIFIER | HG01981.hp1 HG02717.hp1 HG02735.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0016 | a0001c0001t0001a0001c0002t0001a0003c0016t0001 | a0001c0001t0001g0001a0001c0002t0001g0017a0001c0002t0001g0030others(2): Show | 7 | 354 | 0.0198 | -24 | c.-44 others(35): Show |
ALAS1 | ENSG00000023330.15 | transcript | ENST00000484952.6 | protein_coding | 4176 | chr3 | TogoVar | ||||||
ALAS1_chr3_52193160_52219327 | 52194035 | GAAAGAAA others(17): Show |
G | upstream_gene_variant | MODIFIER | HG02922.hp1 HG02965.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 3 | 354 | 0.0085 | -24 | c.-44 others(35): Show |
ALAS1 | ENSG00000023330.15 | transcript | ENST00000484952.6 | protein_coding | 4124 | chr3 | TogoVar | ||||||
ALDH18A1_chr10_95600941_95661711 | 95637967 | AAACAACA others(17): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG02280.hp2 HG02630.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0049a0001c0001t0001g0264a0001c0001t0001g0265others(3): Show | 7 | 372 | 0.0188 | -24 | c.304 others(39): Show |
ALDH18A1 | ENSG00000059573.9 | transcript | ENST00000371224.7 | protein_coding | 3/17 | chr10 | TogoVar | ||||||
ALDH18A1_chr10_95600941_95661711 | 95656385 | TTGCAGCG others(17): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG00741.hp2 others(30): Show |
a0001a0002a0003 | a0001c0003a0001c0010a0002c0002others(2): Show | a0001c0003t0005a0001c0010t0013a0002c0002t0003others(2): Show | a0001c0003t0005g0268a0001c0003t0005g0269a0001c0003t0005g0270others(24): Show | 33 | 372 | 0.0887 | -24 | c.-29 others(39): Show |
ALDH18A1 | ENSG00000059573.9 | transcript | ENST00000371224.7 | protein_coding | 1/17 | chr10 | TogoVar | ||||||
ALDH1L1_chr3_126098570_126185586 | 126105080 | GGGACCCC others(17): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00438.hp2 others(209): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0007a0001c0015others(27): Show | a0001c0001t0001a0001c0007t0001a0001c0015t0001others(27): Show | a0001c0001t0001g0007a0001c0001t0001g0022a0001c0001t0001g0055others(201): Show | 212 | 338 | 0.6272 | -24 | c.265 others(41): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 22/22 | chr3 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105036514 | TTATATAT others(17): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0057 | 2 | 386 | 0.0052 | -24 | c.214 others(43): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 18/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105036543 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG01175.hp1 others(8): Show |
a0001a0005 | a0001c0001a0005c0012 | a0001c0001t0003a0001c0001t0006a0005c0012t0006 | a0001c0001t0003g0203a0001c0001t0006g0005a0001c0001t0006g0160others(8): Show | 11 | 386 | 0.0285 | -24 | c.214 others(43): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 18/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105046171 | CTCTCTCT others(17): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0291 | 1 | 386 | 0.0026 | -24 | c.186 others(41): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 15/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105046177 | CTCTCTCT others(17): Show |
C | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0220 | 1 | 386 | 0.0026 | -24 | c.186 others(41): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 15/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105059267 | AAATAATA others(17): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp2 others(69): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0083a0001c0001t0001g0161a0001c0001t0001g0174others(69): Show | 72 | 386 | 0.1865 | -24 | c.114 others(43): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 9/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105064114 | CTTTTTTT others(17): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02559.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0005 | a0001c0001t0001g0226a0001c0002t0005g0333 | 2 | 386 | 0.0052 | -24 | c.787 others(41): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 6/22 | chr12 | TogoVar | ||||||
ALDH2_chr12_111761933_111822532 | 111764982 | TTGTGTGT others(17): Show |
T | upstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0081 | 1 | 342 | 0.0029 | -24 | c.-20 others(35): Show |
ALDH2 | ENSG00000111275.13 | transcript | ENST00000261733.7 | protein_coding | 1950 | chr12 | TogoVar | ||||||
ALDH3A1_chr17_19732989_19753298 | 19746638 | CGTGTGCG others(17): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02723.hp2 HG02886.hp1 others(2): Show |
a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0020a0005c0008t0001g0052a0005c0008t0001g0053 | 5 | 424 | 0.0118 | -24 | c.-5- others(39): Show |
ALDH3A1 | ENSG00000108602.18 | transcript | ENST00000225740.11 | protein_coding | 1/10 | chr17 | TogoVar | ||||||
ALDH3B1_chr11_68005327_68034276 | 68029379 | AATCCACG others(17): Show |
A | downstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0017 | a0001c0017t0020 | a0001c0017t0020g0070 | 1 | 374 | 0.0027 | -24 | c.*14 others(35): Show |
ALDH3B1 | ENSG00000006534.17 | transcript | ENST00000342456.11 | protein_coding | 104 | chr11 | TogoVar | ||||||
ALDH5A1_chr6_24489969_24542207 | 24497310 | TGCTGATT others(17): Show |
T | intron_variant | MODIFIER | HG02145.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0348a0001c0001t0002g0349 | 2 | 368 | 0.0054 | -24 | c.354 others(41): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ALDH5A1_chr6_24489969_24542207 | 24497336 | CTGATTGG others(17): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp1 HG02922.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0120a0001c0001t0002g0351a0001c0001t0002g0352others(3): Show | 6 | 368 | 0.0163 | -24 | c.354 others(41): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ALG14_chr1_94969405_95077951 | 95016942 | GGTGTGTG others(17): Show |
G | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0356 | 1 | 388 | 0.0026 | -24 | c.420 others(43): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
ALG14_chr1_94969405_95077951 | 95045664 | GTATACTA others(17): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01069.hp2 HG01099.hp2 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0012a0001c0001t0014others(21): Show | a0001c0001t0008g0098a0001c0001t0008g0099a0001c0001t0008g0100others(37): Show | 40 | 388 | 0.1031 | -24 | c.289 others(43): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
ALG1L2_chr3_130076831_130103390 | 130099980 | AACACACA others(17): Show |
A | downstream_gene_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0015 | a0002c0015t0001 | a0002c0015t0001g0098 | 1 | 261 | 0.0038 | -24 | c.*17 others(35): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1591 | chr3 | TogoVar | ||||||
ALG6_chr1_63362627_63443553 | 63382640 | AGTTTTTT others(17): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG02145.hp2 HG02559.hp1 others(16): Show |
a0001a0004a0006 | a0001c0001a0004c0008a0006c0009 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0331a0001c0001t0003g0196a0001c0001t0003g0197others(16): Show | 19 | 388 | 0.0490 | -24 | c.82+ others(41): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALG6_chr1_63362627_63443553 | 63400268 | CGTATATA others(17): Show |
C | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0193 | 1 | 388 | 0.0026 | -24 | c.168 others(41): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 3/14 | chr1 | TogoVar | ||||||
ALG9_chr11_111777195_111876581 | 111811603 | CATGTGGT others(17): Show |
C | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0174 | 1 | 314 | 0.0032 | -24 | c.160 others(43): Show |
ALG9 | ENSG00000086848.15 | transcript | ENST00000616540.5 | protein_coding | 13/14 | chr11 | TogoVar | ||||||
ALKBH5_chr17_18178828_18214954 | 18201794 | AAGATAGA others(17): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG01070.hp1 HG01952.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0098a0001c0002t0004g0107a0001c0002t0004g0109others(3): Show | 6 | 418 | 0.0144 | -24 | c.852 others(41): Show |
ALKBH5 | ENSG00000091542.9 | transcript | ENST00000399138.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALK_chr2_29187774_29926586 | 29750630 | GGGAAGGA others(17): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02895.hp2 others(1): Show |
a0001a0002a0003 | a0001c0025a0002c0028a0003c0010 | a0001c0025t0011a0002c0028t0001a0003c0010t0006 | a0001c0025t0011g0074a0002c0028t0001g0014a0003c0010t0006g0001others(1): Show | 4 | 80 | 0.0500 | -24 | c.668 others(43): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29831217 | GGAAGAGG others(17): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0037 | 1 | 80 | 0.0125 | -24 | c.667 others(43): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29889687 | TAGATAGA others(17): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02572.hp2 HG02738.hp1 others(3): Show |
a0002a0003a0004others(1): Show | a0002c0007a0002c0036a0002c0056others(3): Show | a0002c0007t0001a0002c0036t0015a0002c0056t0001others(3): Show | a0002c0007t0001g0064a0002c0036t0015g0080a0002c0056t0001g0040others(3): Show | 6 | 80 | 0.0750 | -24 | c.667 others(43): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29889695 | CAGAGAGA others(17): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02922.hp2 |
a0002 | a0002c0011a0002c0028 | a0002c0011t0001a0002c0028t0001 | a0002c0011t0001g0051a0002c0028t0001g0014 | 2 | 80 | 0.0250 | -24 | c.667 others(43): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29900995 | GAGCAAGC others(17): Show |
G | intron_variant | MODIFIER | HG02922.hp1 HG03041.hp1 |
a0001a0003 | a0001c0017a0003c0019 | a0001c0017t0001a0003c0019t0002 | a0001c0017t0001g0012a0003c0019t0002g0011 | 2 | 80 | 0.0250 | -24 | c.667 others(43): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3704397 | GGGGCGTG others(17): Show |
G | downstream_gene_variant | MODIFIER | HG01167.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0169 | 1 | 274 | 0.0037 | -24 | c.*18 others(35): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 1727 | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3704447 | GGGGCATG others(17): Show |
G | downstream_gene_variant | MODIFIER | HG00735.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0152 | 1 | 274 | 0.0037 | -24 | c.*18 others(35): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 1777 | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73474371 | CTGTGTGT others(17): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02572.hp1 HG02809.hp1 others(1): Show |
a0010a0047a0057 | a0010c0009a0047c0061a0057c0075 | a0010c0009t0001a0047c0061t0001a0057c0075t0001 | a0010c0009t0001g0184a0010c0009t0001g0185a0047c0061t0001g0183others(1): Show | 4 | 248 | 0.0161 | -24 | c.767 others(45): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALOX12B_chr17_8067636_8092716 | 8087235 | CAGACACA others(17): Show |
C | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 462 | 0.0022 | -24 | c.147 others(37): Show |
ALOX12B | ENSG00000179477.11 | transcript | ENST00000647874.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8107810 | CAAGAAAG others(17): Show |
C | intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0065 | 1 | 422 | 0.0024 | -24 | c.168 others(41): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58479079 | TATGTATA others(17): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp2 others(48): Show |
a0001a0002a0003others(18): Show | a0001c0006a0002c0002a0002c0014others(23): Show | a0001c0006t0011a0002c0002t0004a0002c0002t0007others(26): Show | a0001c0006t0011g0116a0002c0002t0004g0121a0002c0002t0004g0280others(48): Show | 51 | 320 | 0.1594 | -24 | c.*27 others(35): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 2167 | chr18 | TogoVar | ||||||
ALPK3_chr15_84812356_84878479 | 84877865 | TGATAGAT others(17): Show |
T | downstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0018 | 1 | 340 | 0.0029 | -24 | c.*94 others(35): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 4387 | chr15 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21554788 | CCTGTCTG others(17): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG00642.hp2 others(41): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0002g0229a0001c0001t0003g0025a0001c0001t0003g0096others(41): Show | 44 | 370 | 0.1189 | -24 | c.61+ others(37): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21554799 | GTCTGTCT others(17): Show |
G | intron_variant | MODIFIER | HG00621.hp2 NA19011.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0036a0002c0002t0001g0037 | 2 | 370 | 0.0054 | -24 | c.61+ others(37): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21554803 | GTCTGTCT others(17): Show |
G | intron_variant | MODIFIER | HG02132.hp1 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045a0001c0001t0002g0095 | 2 | 370 | 0.0054 | -24 | c.61+ others(37): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALX1_chr12_85275220_85306784 | 85276888 | CATATATA others(17): Show |
C | upstream_gene_variant | MODIFIER | HG02965.hp1 HG03139.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068 | 3 | 384 | 0.0078 | -24 | c.-33 others(35): Show |
ALX1 | ENSG00000180318.4 | transcript | ENST00000316824.4 | protein_coding | 3331 | chr12 | TogoVar | ||||||
ALX4_chr11_44255440_44315139 | 44293099 | AGAAGGAA others(17): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02451.hp2 others(7): Show |
a0001a0003 | a0001c0001a0001c0031a0003c0006others(1): Show | a0001c0001t0043a0001c0031t0002a0003c0006t0003others(5): Show | a0001c0001t0043g0297a0001c0031t0002g0381a0003c0006t0003g0021others(7): Show | 10 | 388 | 0.0258 | -24 | c.466 others(43): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
ALX4_chr11_44255440_44315139 | 44293148 | GAAGGAAG others(17): Show |
G | intron_variant | MODIFIER | HG02809.hp2 HG03130.hp1 HG03471.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0006a0003c0021 | a0001c0001t0002a0003c0006t0015a0003c0006t0032others(1): Show | a0001c0001t0002g0352a0003c0006t0015g0013a0003c0006t0032g0018others(1): Show | 4 | 388 | 0.0103 | -24 | c.466 others(43): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
ALX4_chr11_44255440_44315139 | 44309156 | CCGCAGCC others(17): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG01515.hp2 HG01517.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0184a0001c0002t0003g0185a0001c0002t0003g0186 | 3 | 388 | 0.0077 | -24 | c.466 others(39): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46447708 | GTAGATAG others(17): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043a0001c0001t0001g0060a0001c0001t0001g0095 | 3 | 160 | 0.0188 | -24 | c.252 others(43): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 11/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46595535 | TAAAAAAA others(17): Show |
T | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG01884.hp2 others(13): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0005t0001 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0063others(13): Show | 16 | 160 | 0.1000 | -24 | c.-18 others(35): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1513 | chr11 | TogoVar | ||||||
AMDHD1_chr12_95938331_95973720 | 95946576 | GCTCCCCC others(17): Show |
G | intron_variant | MODIFIER | HG01981.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0115 | 1 | 404 | 0.0025 | -24 | c.137 others(41): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AMER1_chrX_64180117_64210708 | 64189514 | GTATATAT others(17): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0059 | 1 | 243 | 0.0041 | -24 | c.*34 others(33): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 341 | chrX | TogoVar | |||||
AMER2_chr13_25156679_25177288 | 25174825 | CCTTTCTT others(17): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00621.hp2 HG01099.hp2 others(62): Show |
a0001a0002a0006 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000others(19): Show | 65 | 416 | 0.1563 | -24 | c.-32 others(35): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2538 | chr13 | TogoVar | ||||||
AMIGO1_chr1_109499178_109514727 | 109511251 | AAAAAAAA others(17): Show |
A | upstream_gene_variant | MODIFIER | HG00642.hp2 HG00673.hp2 HG00733.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0002a0001c0001t0002g0008a0001c0001t0003g0003others(3): Show | 26 | 400 | 0.0650 | -24 | c.-19 others(35): Show |
AMIGO1 | ENSG00000181754.7 | transcript | ENST00000369864.5 | protein_coding | 1525 | chr1 | TogoVar | ||||||
ANAPC10_chr4_144989576_145103196 | 145026975 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 336 | 0.0030 | -24 | c.328 others(43): Show |
ANAPC10 | ENSG00000164162.14 | transcript | ENST00000507656.6 | protein_coding | 4/4 | chr4 | TogoVar |