view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGO2_chr8_140515156_140640633 | 140622606 | CGGGGGAA others(23): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0006 | a0001c0006t0113 | a0001c0006t0113g0300 | 1 | 315 | 0.0032 | -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 | a0001c0001t0005a0001c0002t0016a0001c0002t0078others(2): Show | a0001c0001t0005g0055 a0001c0001t0005g0329 a0001c0002t0016g0084 others(3): Show |
6 | 267 | 0.0225 | -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 | a0001c0002t0002g0119 a0001c0003t0006g0316 a0001c0003t0006g0317 others(11): Show |
14 | 336 | 0.0417 | -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 | 261 | 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 | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0004g0083 others(8): Show |
14 | 363 | 0.0386 | -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 | 442 | 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 | a0001c0002t0023g0235 | 1 | 422 | 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 | a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0055g0375 others(4): Show |
7 | 61 | 0.1148 | -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 |
a0001a0009 | a0001c0001a0009c0008 | a0001c0001t0001a0009c0008t0001 | a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0128 others(12): Show |
15 | 170 | 0.0882 | -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(13): Show | a0001c0002a0001c0003a0001c0011others(27): Show | a0001c0002t0001a0001c0003t0001a0001c0011t0001others(40): Show | a0001c0002t0001g0021 a0001c0002t0001g0064 a0001c0002t0001g0163 others(71): Show |
74 | 314 | 0.2357 | -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 |
a0004a0010 | a0004c0018a0010c0012 | a0004c0018t0004a0010c0012t0037 | a0004c0018t0004g0065 a0010c0012t0037g0123 |
2 | 152 | 0.0132 | -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 | a0001c0001t0008g0129 a0001c0001t0017g0112 a0001c0006t0017g0079 others(6): Show |
9 | 152 | 0.0592 | -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 | a0004c0007t0005 | a0004c0007t0005g0069 a0004c0007t0005g0101 |
2 | 151 | 0.0132 | -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 | 37 | 0.0270 | -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 | a0001c0033t0050a0002c0002t0001a0002c0028t0029others(15): Show | a0001c0033t0050g0025 a0002c0002t0001g0027 a0002c0002t0001g0350 others(32): Show |
37 | 386 | 0.0959 | -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 | 227 | 0.0044 | -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 | a0001c0001t0006g0282 a0001c0001t0044g0058 |
2 | 265 | 0.0075 | -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 | a0001c0001t0002g0069 a0001c0001t0002g0156 a0001c0001t0002g0189 others(13): Show |
16 | 298 | 0.0537 | -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 | 293 | 0.0034 | -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 | a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0078 others(90): Show |
93 | 299 | 0.3110 | -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 | a0001c0001t0002g0061 a0001c0001t0020g0286 a0001c0001t0020g0293 others(1): Show |
4 | 110 | 0.0364 | -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 | a0001c0001t0010g0080 a0001c0001t0010g0162 a0001c0001t0010g0163 others(1): Show |
4 | 22 | 0.1818 | -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 | a0001c0001t0003g0128 a0001c0001t0006g0010 a0001c0001t0006g0122 others(5): Show |
11 | 412 | 0.0267 | -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 | a0001c0001t0003g0128 a0001c0001t0006g0010 a0001c0001t0006g0122 others(5): Show |
11 | 409 | 0.0269 | -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 | a0001c0001t0014 | a0001c0001t0014g0264 | 1 | 383 | 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 | a0001c0001t0022a0001c0001t0029 | a0001c0001t0022g0122 a0001c0001t0029g0151 |
2 | 377 | 0.0053 | -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 | a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0041 others(12): Show |
15 | 361 | 0.0416 | -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 | a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0239 others(8): Show |
11 | 360 | 0.0306 | -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 | a0001c0001t0004a0001c0001t0014a0001c0001t0036others(1): Show | a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0230 others(7): Show |
10 | 357 | 0.0280 | -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 | a0003c0003t0001g0048 | 1 | 364 | 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 | a0002c0002t0003g0338 | 1 | 236 | 0.0042 | -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 |
a0001a0005a0007others(1): Show | a0001c0001a0001c0008a0001c0014others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0008t0001others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(58): Show |
116 | 176 | 0.6591 | -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 | a0008 | a0008c0018 | a0008c0018t0028 | a0008c0018t0028g0089 | 1 | 442 | 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 | a0001c0001t0003g0013 a0001c0001t0003g0203 a0001c0001t0003g0204 others(2): Show |
6 | 382 | 0.0157 | -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 | a0001c0003t0010g0316 | 1 | 359 | 0.0028 | -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 | a0001c0001t0002g0324 a0001c0001t0003g0001 a0001c0001t0003g0002 others(93): Show |
101 | 386 | 0.2617 | -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 |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(5): Show | a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 others(126): Show |
133 | 384 | 0.3464 | -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 | a0001c0033t0001g0029 a0002c0001t0001g0033 a0002c0001t0001g0061 others(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 | a0002c0011t0001g0042 a0002c0052t0001g0017 a0005c0013t0004g0020 |
3 | 74 | 0.0405 | -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 | a0001c0006t0007g0056 a0001c0033t0001g0029 a0002c0001t0001g0033 others(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 | 25 | 0.0400 | -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 | a0001c0035t0001g0068 a0002c0001t0001g0061 a0002c0055t0001g0031 |
3 | 55 | 0.0545 | -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 | a0001c0001t0002g0305 a0001c0002t0002g0273 a0001c0002t0002g0274 others(6): Show |
9 | 344 | 0.0262 | -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 | a0001c0001t0002g0136 a0001c0002t0001g0018 a0001c0002t0001g0321 |
3 | 394 | 0.0076 | -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 | a0003c0004t0034 | a0003c0004t0034g0081 | 1 | 241 | 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 | a0001c0001t0002g0095 a0001c0001t0004g0006 a0001c0001t0004g0012 others(76): Show |
79 | 98 | 0.8061 | -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 | a0002c0003t0001g0078 | 1 | 456 | 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 | a0001c0001t0003g0014 | 2 | 280 | 0.0071 | -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 | a0001c0001t0002a0001c0001t0017 | a0001c0001t0002g0268 a0001c0001t0017g0251 |
2 | 69 | 0.0290 | -30 | c.120 others(49): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 7/8 | chr8 | TogoVar |