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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGO2_chr8_140515156_140640633 | 140622606 | CGGGGGAA others(23): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0006 | a0001c0006t0126 | a0001c0006t0126g0300 | 1 | 338 | 0.0030 | -30 | c.22+ others(47): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 1/18 | chr8 | TogoVar | ||||||
AGO2_chr8_140515156_140640633 | 140622648 | CCACATGG others(23): Show |
C | intron_variant | MODIFIER | HG03239.hp2 HG03540.hp1 HG03688.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0002t0017a0001c0002t0091others(2): Show | a0001c0001t0003g0054a0001c0001t0003g0335a0001c0002t0017g0084others(3): Show | 6 | 338 | 0.0178 | -30 | c.22+ others(47): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 1/18 | chr8 | TogoVar | ||||||
AGO2_chr8_140515156_140640633 | 140623254 | GGGGTCTC others(23): Show |
G | intron_variant | MODIFIER | HG01975.hp2 HG02040.hp2 HG02055.hp2 others(11): Show |
a0001 | a0001c0002a0001c0003a0001c0005others(2): Show | a0001c0002t0002a0001c0003t0006a0001c0003t0030others(5): Show | a0001c0002t0002g0119a0001c0003t0006g0318a0001c0003t0006g0319others(11): Show | 14 | 338 | 0.0414 | -30 | c.22+ others(47): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 1/18 | chr8 | TogoVar | ||||||
AGPAT4_chr6_161124967_161279061 | 161265225 | TGATTAGT others(23): Show |
T | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0009 | 1 | 264 | 0.0038 | -30 | c.-90 others(47): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 1/8 | chr6 | TogoVar | ||||||
AGR2_chr7_16786811_16809999 | 16804249 | GACACACA others(23): Show |
G | intron_variant | MODIFIER | HG01099.hp2 HG01123.hp1 HG01433.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0004g0084others(8): Show | 14 | 460 | 0.0304 | -30 | c.-8+ others(43): Show |
AGR2 | ENSG00000106541.12 | transcript | ENST00000419304.7 | protein_coding | 1/7 | chr7 | TogoVar | ||||||
AGXT_chr2_240863824_240885500 | 240884534 | TGCCACAT others(23): Show |
T | downstream_gene_variant | MODIFIER | HG02257.hp2 | a0006 | a0006c0007 | a0006c0007t0009 | a0006c0007t0009g0027 | 1 | 444 | 0.0023 | -30 | c.*57 others(41): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 4035 | chr2 | TogoVar | ||||||
AIF1L_chr9_131091531_131128144 | 131123944 | ATATGTGT others(23): Show |
A | downstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0239 | 1 | 424 | 0.0024 | -30 | c.*36 others(41): Show |
AIF1L | ENSG00000126878.13 | transcript | ENST00000247291.8 | protein_coding | 801 | chr9 | TogoVar | ||||||
AIFM2_chr10_70107271_70137825 | 70133098 | AAGAGAGA others(23): Show |
A | upstream_gene_variant | MODIFIER | HG02135.hp2 HG03209.hp2 NA18954.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0003 | a0001c0001t0001a0001c0001t0055a0002c0004t0009others(1): Show | a0001c0001t0001g0288a0001c0001t0001g0289a0001c0001t0055g0374others(4): Show | 7 | 468 | 0.0150 | -30 | c.-40 others(39): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 274 | chr10 | TogoVar | ||||||
AK8_chr9_132720578_132883284 | 132821769 | GTATATGT others(23): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00673.hp1 others(12): Show |
a0001a0008 | a0001c0001a0008c0008 | a0001c0001t0001a0008c0008t0001 | a0001c0001t0001g0122a0001c0001t0001g0126a0001c0001t0001g0128others(12): Show | 15 | 266 | 0.0564 | -30 | c.889 others(47): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 9/12 | chr9 | TogoVar | ||||||
AKAP12_chr6_151234967_151363559 | 151262584 | CAACTTCA others(23): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00597.hp2 others(71): Show |
a0001a0002a0003others(17): Show | a0001c0002a0001c0003a0001c0011others(27): Show | a0001c0002t0001a0001c0003t0001a0001c0011t0001others(40): Show | a0001c0002t0001g0021a0001c0002t0001g0064a0001c0002t0001g0163others(71): Show | 74 | 316 | 0.2342 | -30 | c.162 others(49): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32745467 | CTCTCTCT others(23): Show |
C | intron_variant | MODIFIER | HG02970.hp1 HG03486.hp1 |
a0004a0009 | a0004c0018a0009c0012 | a0004c0018t0004a0009c0012t0037 | a0004c0018t0004g0065a0009c0012t0037g0123 | 2 | 154 | 0.0130 | -30 | c.337 others(49): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32828517 | TCTCTCTC others(23): Show |
T | intron_variant | MODIFIER | HG01993.hp1 HG02109.hp2 HG02602.hp1 others(6): Show |
a0001a0004a0007 | a0001c0001a0001c0006a0004c0007others(4): Show | a0001c0001t0008a0001c0001t0017a0001c0006t0017others(6): Show | a0001c0001t0008g0129a0001c0001t0017g0112a0001c0006t0017g0079others(6): Show | 9 | 154 | 0.0584 | -30 | c.*43 others(47): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32828519 | TCTCTCTC others(23): Show |
T | intron_variant | MODIFIER | HG02630.hp1 NA21309.hp2 |
a0004 | a0004c0007 | a0004c0007t0006 | a0004c0007t0006g0072a0004c0007t0006g0101 | 2 | 154 | 0.0130 | -30 | c.*43 others(47): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP7_chr6_131130467_131288532 | 131247269 | GTATATAT others(23): Show |
G | intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0232 | 1 | 304 | 0.0033 | -30 | c.850 others(49): Show |
AKAP7 | ENSG00000118507.19 | transcript | ENST00000431975.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AKNA_chr9_114329156_114392982 | 114376190 | CCTCCCCA others(23): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01243.hp2 others(34): Show |
a0001a0002a0003others(6): Show | a0001c0033a0002c0002a0002c0028others(9): Show | a0001c0033t0051a0002c0002t0001a0002c0028t0029others(15): Show | a0001c0033t0051g0025a0002c0002t0001g0027a0002c0002t0001g0350others(32): Show | 37 | 388 | 0.0954 | -30 | c.134 others(47): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 3/21 | chr9 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243527870 | AACACACA others(23): Show |
A | intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 301 | 0.0033 | -30 | c.125 others(51): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243527908 | CACACACA others(23): Show |
C | intron_variant | MODIFIER | HG02622.hp1 NA18989.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0044 | a0001c0001t0006g0282a0001c0001t0044g0058 | 2 | 301 | 0.0066 | -30 | c.125 others(51): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243527910 | CACACACA others(23): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG02056.hp2 HG02080.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0002g0069a0001c0001t0002g0156a0001c0001t0002g0189others(13): Show | 16 | 301 | 0.0532 | -30 | c.125 others(51): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243527912 | CACACACA others(23): Show |
C | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0037 | 1 | 301 | 0.0033 | -30 | c.125 others(51): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243583158 | GTATATGT others(23): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00544.hp2 others(90): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0070a0001c0001t0001g0077a0001c0001t0001g0078others(90): Show | 93 | 301 | 0.3090 | -30 | c.697 others(49): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 8/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243693242 | TGATATAT others(23): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp2 HG02886.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0020a0001c0001t0041 | a0001c0001t0002g0061a0001c0001t0020g0286a0001c0001t0020g0293others(1): Show | 4 | 301 | 0.0133 | -30 | c.172 others(47): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 3/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243699465 | CTATATAT others(23): Show |
C | intron_variant | MODIFIER | HG00544.hp2 NA18943.hp2 NA18947.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0080a0001c0001t0010g0162a0001c0001t0010g0163others(1): Show | 4 | 301 | 0.0133 | -30 | c.47- others(45): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 2/13 | chr1 | TogoVar | ||||||
ALDH1A3_chr15_100874831_100921626 | 100887260 | GTCAAAAG others(23): Show |
G | intron_variant | MODIFIER | HG01106.hp1 HG02280.hp1 NA18965.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0026 | a0001c0001t0003g0127a0001c0001t0006g0008a0001c0001t0006g0120others(5): Show | 11 | 414 | 0.0266 | -30 | c.205 others(45): Show |
ALDH1A3 | ENSG00000184254.17 | transcript | ENST00000329841.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ALDH1A3_chr15_100874831_100921626 | 100887440 | GTCAAAAG others(23): Show |
G | intron_variant | MODIFIER | HG01106.hp1 HG02280.hp1 NA18965.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0026 | a0001c0001t0003g0127a0001c0001t0006g0008a0001c0001t0006g0120others(5): Show | 11 | 414 | 0.0266 | -30 | c.205 others(44): Show |
ALDH1A3 | ENSG00000184254.17 | transcript | ENST00000329841.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ALDH1L2_chr12_105014790_105089458 | 105036537 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0291 | 1 | 386 | 0.0026 | -30 | c.214 others(49): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 18/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105038260 | TCACACAC others(23): Show |
T | intron_variant | MODIFIER | HG02630.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0029 | a0001c0001t0023g0120a0001c0001t0029g0152 | 2 | 386 | 0.0052 | -30 | c.204 others(45): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 17/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105046171 | CTCTCTCT others(23): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG02071.hp2 HG02132.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0004a0001c0002t0002a0001c0010t0007 | a0001c0001t0004g0026a0001c0001t0004g0027a0001c0001t0004g0034others(12): Show | 15 | 386 | 0.0389 | -30 | c.186 others(47): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 15/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105046173 | CTCTCTCT others(23): Show |
C | intron_variant | MODIFIER | HG02015.hp1 HG02040.hp2 HG02056.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0002 | a0001c0001t0004g0156a0001c0001t0004g0157a0001c0001t0004g0242others(8): Show | 11 | 386 | 0.0285 | -30 | c.186 others(47): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 15/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105046175 | CTCTCTCT others(23): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01981.hp1 HG02258.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0015a0001c0001t0032others(1): Show | a0001c0001t0004g0028a0001c0001t0004g0030a0001c0001t0004g0233others(7): Show | 10 | 386 | 0.0259 | -30 | c.186 others(47): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 15/22 | chr12 | TogoVar | ||||||
ALDH5A1_chr6_24489969_24542207 | 24526846 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG02056.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0045 | 1 | 368 | 0.0027 | -30 | c.117 others(49): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ALDH5A1_chr6_24489969_24542207 | 24526953 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0346 | 1 | 368 | 0.0027 | -30 | c.117 others(49): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ALG1L2_chr3_130076831_130103390 | 130099980 | AACACACA others(23): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(113): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0008a0001c0014others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0008t0001others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(64): Show | 116 | 261 | 0.4444 | -30 | c.*17 others(41): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1591 | chr3 | TogoVar | ||||||
ALG1_chr16_5066843_5092379 | 5090967 | GTCAGTGG others(23): Show |
G | downstream_gene_variant | MODIFIER | NA19043.hp2 | a0005 | a0005c0018 | a0005c0018t0028 | a0005c0018t0028g0089 | 1 | 444 | 0.0023 | -30 | c.*60 others(41): Show |
ALG1 | ENSG00000033011.14 | transcript | ENST00000262374.10 | protein_coding | 3589 | chr16 | TogoVar | ||||||
ALG6_chr1_63362627_63443553 | 63400215 | ATATATAC others(23): Show |
A | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG02922.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0204a0001c0001t0003g0205a0001c0001t0003g0206others(3): Show | 6 | 388 | 0.0155 | -30 | c.168 others(47): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALG6_chr1_63362627_63443553 | 63400239 | ATATACGT others(23): Show |
A | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0324 | 1 | 388 | 0.0026 | -30 | c.168 others(47): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALG6_chr1_63362627_63443553 | 63422283 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00733.hp1 others(98): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0005a0004c0008others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0331a0001c0001t0003g0005a0001c0001t0003g0012others(98): Show | 101 | 388 | 0.2603 | -30 | c.105 others(49): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALG6_chr1_63362627_63443553 | 63422408 | AATATAAA others(23): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00544.hp2 others(130): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(5): Show | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0007others(126): Show | 133 | 388 | 0.3428 | -30 | c.105 others(49): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALK_chr2_29187774_29926586 | 29705252 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG02738.hp2 | a0003 | a0003c0054 | a0003c0054t0002 | a0003c0054t0002g0069 | 1 | 80 | 0.0125 | -30 | c.788 others(49): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 2/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29802339 | CAGGGGAG others(23): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01106.hp2 others(7): Show |
a0001a0002a0003 | a0001c0033a0002c0001a0002c0007others(4): Show | a0001c0033t0001a0002c0001t0001a0002c0007t0001others(4): Show | a0001c0033t0001g0029a0002c0001t0001g0033a0002c0001t0001g0061others(7): Show | 10 | 80 | 0.1250 | -30 | c.668 others(49): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29802364 | GAGGGGAG others(23): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG02970.hp1 HG03209.hp1 |
a0002a0005 | a0002c0011a0002c0052a0005c0013 | a0002c0011t0001a0002c0052t0001a0005c0013t0004 | a0002c0011t0001g0042a0002c0052t0001g0017a0005c0013t0004g0020 | 3 | 80 | 0.0375 | -30 | c.668 others(49): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29802556 | GGAGAGGG others(23): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01106.hp2 others(9): Show |
a0001a0002a0003 | a0001c0006a0001c0033a0002c0001others(6): Show | a0001c0006t0007a0001c0033t0001a0002c0001t0001others(6): Show | a0001c0006t0007g0056a0001c0033t0001g0029a0002c0001t0001g0033others(9): Show | 12 | 80 | 0.1500 | -30 | c.668 others(49): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29830955 | AAAGAAGA others(23): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0027 | a0001c0027t0001 | a0001c0027t0001g0013 | 1 | 80 | 0.0125 | -30 | c.667 others(49): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29889687 | TAGATAGA others(23): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG02145.hp1 HG02257.hp2 |
a0001a0002 | a0001c0035a0002c0001a0002c0055 | a0001c0035t0001a0002c0001t0001a0002c0055t0001 | a0001c0035t0001g0068a0002c0001t0001g0061a0002c0055t0001g0031 | 3 | 80 | 0.0375 | -30 | c.667 others(49): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALOX5_chr10_45369216_45451117 | 45391025 | CCTCTCCC others(23): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG02922.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0002a0001c0002t0002a0001c0002t0007others(1): Show | a0001c0001t0002g0306a0001c0002t0002g0280a0001c0002t0002g0281others(6): Show | 9 | 345 | 0.0261 | -30 | c.350 others(47): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ALOXE3_chr17_8090900_8123514 | 8107961 | GGAAGGAG others(23): Show |
G | intron_variant | MODIFIER | HG02135.hp1 NA18747.hp2 NA18950.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0127a0001c0002t0001g0332a0001c0002t0001g0333 | 3 | 422 | 0.0071 | -30 | c.168 others(47): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | ||||||
AMER1_chrX_64180117_64210708 | 64180709 | GAACCCTG others(23): Show |
G | downstream_gene_variant | MODIFIER | NA19089.hp2 | a0003 | a0003c0004 | a0003c0004t0043 | a0003c0004t0043g0106 | 1 | 243 | 0.0041 | -30 | c.*91 others(41): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 4407 | chrX | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38390961 | CAGAGAGA others(23): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00621.hp2 HG00642.hp1 others(76): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0002others(7): Show | a0001c0001t0002g0095a0001c0001t0004g0006a0001c0001t0004g0012others(76): Show | 79 | 288 | 0.2743 | -30 | c.187 others(47): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 19/20 | chr7 | TogoVar | ||||||
AMTN_chr4_70513569_70537743 | 70522856 | TGGAACAT others(23): Show |
T | intron_variant | MODIFIER | HG04228.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0076 | 1 | 458 | 0.0022 | -30 | c.138 others(43): Show |
AMTN | ENSG00000187689.10 | transcript | ENST00000339336.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANAPC16_chr10_72211012_72240860 | 72218165 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 2 | 352 | 0.0057 | -30 | c.-28 others(47): Show |
ANAPC16 | ENSG00000166295.9 | transcript | ENST00000299381.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ANGPT1_chr8_107244482_107502918 | 107282553 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG02647.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018 | a0001c0001t0002g0231a0001c0001t0018g0251 | 2 | 292 | 0.0069 | -30 | c.120 others(49): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 7/8 | chr8 | TogoVar |