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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS2_chr5_179105853_179350461 | 179214185 | TCACAGTC others(43): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01099.hp1 others(23): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0049others(17): Show | a0001c0001t0002a0001c0001t0004a0001c0004t0002others(18): Show | a0001c0001t0002g0037 a0001c0001t0004g0111 a0001c0004t0002g0005 others(23): Show |
26 | 274 | 0.0949 | -50 | c.689 others(67): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 3/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179277952 | ACCCCCTC others(43): Show |
A | intron_variant | MODIFIER | HG02293.hp1 | a0005 | a0005c0011 | a0005c0011t0003 | a0005c0011t0003g0167 | 1 | 272 | 0.0037 | -50 | c.535 others(67): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADAMTS7_chr15_78754206_78816464 | 78774029 | CCAGGAGG others(43): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG02895.hp1 HG02896.hp2 |
a0021 | a0021c0020 | a0021c0020t0001 | a0021c0020t0001g0025 a0021c0020t0001g0343 |
3 | 378 | 0.0079 | -50 | c.201 others(66): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 13/23 | chr15 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1327694 | TCGTCACA others(43): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG02083.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0016 | a0001c0001t0001a0001c0001t0023a0002c0002t0007others(2): Show | a0001c0001t0001g0069 a0001c0001t0023g0023 a0002c0002t0007g0001 others(2): Show |
5 | 106 | 0.0472 | -50 | c.107 others(71): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/9 | chr10 | TogoVar | |||||||
ADCY3_chr2_24814169_24925237 | 24817542 | GTGAGATT others(43): Show |
G | downstream_gene_variant | MODIFIER | HG02135.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0201 | 1 | 270 | 0.0037 | -50 | c.*23 others(61): Show |
ADCY3 | ENSG00000138031.15 | transcript | ENST00000679454.1 | protein_coding | 1626 | chr2 | TogoVar | |||||||
ADCY9_chr16_3957653_4121442 | 4116592 | GGCGGGGC others(43): Show |
G | upstream_gene_variant | MODIFIER | HG03130.hp2 HG03453.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0038a0001c0001t0040 | a0001c0001t0003g0210 a0001c0001t0038g0209 a0001c0001t0040g0214 |
3 | 318 | 0.0094 | -50 | c.-99 others(59): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 151 | chr16 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133129623 | TTCACACC others(43): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(46): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0024a0001c0001t0046a0001c0001t0047others(16): Show | a0001c0001t0024g0044 a0001c0001t0024g0118 a0001c0001t0024g0143 others(41): Show |
49 | 339 | 0.1445 | -50 | c.*16 others(59): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 7/7 | 163 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRB3_chr6_68630282_69394506 | 68661357 | GTGTGTGT others(43): Show |
G | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0110 | 1 | 118 | 0.0085 | -50 | c.757 others(69): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADGRB3_chr6_68630282_69394506 | 68661409 | GTGTGTGT others(43): Show |
G | intron_variant | MODIFIER | HG01074.hp1 HG03490.hp1 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001 | a0001c0001t0001g0007 a0002c0005t0001g0021 |
2 | 118 | 0.0169 | -50 | c.757 others(69): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADGRB3_chr6_68630282_69394506 | 68661502 | CATATATA others(43): Show |
C | intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0032 | 1 | 118 | 0.0085 | -50 | c.757 others(69): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADORA2B_chr17_15940130_15980746 | 15979621 | ACCCCCCC others(43): Show |
A | downstream_gene_variant | MODIFIER | HG02615.hp1 HG02630.hp1 HG02895.hp1 others(2): Show |
a0002 | a0002c0002a0002c0007 | a0002c0002t0003a0002c0002t0005a0002c0007t0003 | a0002c0002t0003g0058 a0002c0002t0003g0063 a0002c0002t0005g0152 others(2): Show |
5 | 344 | 0.0145 | -50 | c.*42 others(61): Show |
ADORA2B | ENSG00000170425.4 | transcript | ENST00000304222.3 | protein_coding | 3876 | chr17 | TogoVar | |||||||
ADORA2B_chr17_15940130_15980746 | 15979643 | CGGGGCGG others(43): Show |
C | downstream_gene_variant | MODIFIER | HG01106.hp2 HG01123.hp1 HG01168.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0007 | a0002c0002t0003g0142 a0002c0002t0003g0147 a0002c0002t0003g0149 others(4): Show |
7 | 337 | 0.0208 | -50 | c.*43 others(61): Show |
ADORA2B | ENSG00000170425.4 | transcript | ENST00000304222.3 | protein_coding | 3898 | chr17 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113421316 | CACCCCGG others(43): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0018 | a0018c0025 | a0018c0025t0039 | a0018c0025t0039g0260 | 1 | 260 | 0.0038 | -50 | c.106 others(69): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
AFF1_chr4_86930011_87146039 | 87022554 | ATATATAT others(43): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02976.hp1 HG03130.hp1 |
a0001 | a0001c0007 | a0001c0007t0008 | a0001c0007t0008g0210 a0001c0007t0008g0211 a0001c0007t0008g0237 |
3 | 292 | 0.0103 | -50 | c.39- others(67): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
AGAP1_chr2_235489043_236136793 | 235573004 | TTCTTCTT others(43): Show |
T | intron_variant | MODIFIER | HG02630.hp2 HG03471.hp2 |
a0001 | a0001c0009a0001c0011 | a0001c0009t0015a0001c0011t0036 | a0001c0009t0015g0038 a0001c0011t0036g0009 |
2 | 93 | 0.0215 | -50 | c.163 others(69): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGBL1_chr15_86074871_86921156 | 86827320 | CACACATA others(43): Show |
C | intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 98 | 0.0102 | -50 | c.315 others(71): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AGBL4_chr1_48527854_50028954 | 48732502 | ATGCAGAG others(43): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0088 | 1 | 104 | 0.0096 | -50 | c.635 others(69): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 6/13 | chr1 | TogoVar | |||||||
AGGF1_chr5_77025404_77070234 | 77043632 | ACCCCCCA others(43): Show |
A | intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0324 | 1 | 436 | 0.0023 | -50 | c.871 others(67): Show |
AGGF1 | ENSG00000164252.13 | transcript | ENST00000312916.12 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15198224 | AGAGAGAG others(43): Show |
A | downstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 234 | 0.0043 | -50 | c.*30 others(61): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 2092 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15354404 | GTACACAC others(43): Show |
G | intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 161 | 0.0062 | -50 | c.126 others(71): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15530260 | GATATTCT others(43): Show |
G | intron_variant | MODIFIER | HG02896.hp2 HG03486.hp2 |
a0001 | a0001c0005 | a0001c0005t0003a0001c0005t0004 | a0001c0005t0003g0001 a0001c0005t0004g0002 |
2 | 224 | 0.0089 | -50 | c.409 others(69): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 345332 | GGGGATGT others(43): Show |
G | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG03225.hp1 others(1): Show |
a0004a0014 | a0004c0003a0014c0012 | a0004c0003t0013a0004c0003t0034a0014c0012t0020 | a0004c0003t0013g0232 a0004c0003t0013g0248 a0004c0003t0034g0235 others(1): Show |
4 | 264 | 0.0152 | -50 | c.62+ others(65): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
AK5_chr1_77277019_77564966 | 77444335 | ATATATAC others(43): Show |
A | intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0179 | 1 | 282 | 0.0035 | -50 | c.105 others(71): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AKAP6_chr14_32324298_32842684 | 32510412 | ATGTATAT others(43): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02622.hp1 HG02895.hp1 others(1): Show |
a0001a0003a0004 | a0001c0006a0003c0002a0004c0007 | a0001c0006t0010a0003c0002t0003a0004c0007t0010 | a0001c0006t0010g0144 a0003c0002t0003g0152 a0004c0007t0010g0132 others(1): Show |
4 | 152 | 0.0263 | -50 | c.325 others(69): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AKIRIN2_chr6_87669860_87707233 | 87698268 | AACTTTTT others(43): Show |
A | intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 404 | 0.0025 | -50 | c.235 others(67): Show |
AKIRIN2 | ENSG00000135334.9 | transcript | ENST00000257787.6 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
AKT2_chr19_40225317_40290345 | 40248795 | GAGGAGAT others(43): Show |
G | intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059 | 1 | 358 | 0.0028 | -50 | c.288 others(67): Show |
AKT2 | ENSG00000105221.18 | transcript | ENST00000392038.7 | protein_coding | 4/13 | chr19 | TogoVar | |||||||
ALDH5A1_chr6_24489969_24542207 | 24541297 | CTGTGCCT others(43): Show |
C | downstream_gene_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 366 | 0.0027 | -50 | c.*75 others(61): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 4091 | chr6 | TogoVar | |||||||
ALG6_chr1_63362627_63443553 | 63400233 | ATATATAT others(43): Show |
A | intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0311 | 1 | 385 | 0.0026 | -50 | c.168 others(67): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALG6_chr1_63362627_63443553 | 63400271 | ATATATAT others(43): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG03516.hp2 HG03669.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0188 a0002c0002t0001g0226 a0002c0002t0001g0227 others(4): Show |
7 | 386 | 0.0181 | -50 | c.168 others(67): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29802374 | GAGGGGAG others(43): Show |
G | intron_variant | MODIFIER | HG02572.hp1 | a0007 | a0007c0057 | a0007c0057t0002 | a0007c0057t0002g0023 | 1 | 78 | 0.0128 | -50 | c.668 others(69): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8107948 | AGAAAGAA others(43): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG01934.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0284 a0001c0002t0001g0018 |
2 | 419 | 0.0048 | -50 | c.168 others(67): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
ALPP_chr2_232373751_232387889 | 232379332 | CTTAGAGT others(43): Show |
C | intron_variant | MODIFIER | NA18522.hp2 | a0019 | a0019c0033 | a0019c0033t0001 | a0019c0033t0001g0026 | 1 | 408 | 0.0025 | -50 | c.309 others(63): Show |
ALPP | ENSG00000163283.7 | transcript | ENST00000392027.3 | protein_coding | 3/10 | chr2 | TogoVar | |||||||
ANGPT1_chr8_107244482_107502918 | 107368450 | GTATTCCT others(43): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG01516.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0001g0140 others(11): Show |
14 | 19 | 0.7368 | -50 | c.298 others(69): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
ANKHD1_chr5_140396833_140544849 | 140458947 | TATATATA others(43): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG01934.hp2 others(18): Show |
a0001a0007a0008 | a0001c0001a0007c0015a0008c0008 | a0001c0001t0001a0007c0015t0001a0008c0008t0001 | a0001c0001t0001g0002 a0001c0001t0001g0104 a0001c0001t0001g0106 others(18): Show |
21 | 320 | 0.0656 | -50 | c.148 others(67): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 8/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKLE1_chr19_17276901_17292646 | 17277228 | GTCTCCCT others(43): Show |
G | upstream_gene_variant | MODIFIER | NA18947.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 404 | 0.0025 | -50 | c.-46 others(61): Show |
ANKLE1 | ENSG00000160117.16 | transcript | ENST00000404085.7 | protein_coding | 4672 | chr19 | TogoVar | |||||||
ANKRD11_chr16_89262630_89495561 | 89305719 | TCCCACTC others(43): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02109.hp1 others(5): Show |
a0001a0010a0019 | a0001c0006a0010c0014a0019c0053 | a0001c0006t0001a0001c0006t0003a0010c0014t0003others(1): Show | a0001c0006t0001g0200 a0001c0006t0003g0024 a0001c0006t0003g0092 others(5): Show |
8 | 308 | 0.0260 | -50 | c.88- others(63): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 3/12 | chr16 | TogoVar | |||||||
ANKRD11_chr16_89262630_89495561 | 89306437 | CCTCCCAC others(43): Show |
C | intron_variant | MODIFIER | HG02895.hp1 | a0003 | a0003c0008 | a0003c0008t0003 | a0003c0008t0003g0043 | 1 | 308 | 0.0032 | -50 | c.88- others(65): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 3/12 | chr16 | TogoVar | |||||||
ANKRD31_chr5_75063297_75241878 | 75206228 | AAAAAAAA others(43): Show |
A | intron_variant | MODIFIER | HG02723.hp2 HG03209.hp1 |
a0003 | a0003c0012a0003c0028 | a0003c0012t0001a0003c0028t0001 | a0003c0012t0001g0101 a0003c0028t0001g0091 |
2 | 332 | 0.0060 | -50 | c.403 others(65): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 5/25 | chr5 | TogoVar | |||||||
ANKRD31_chr5_75063297_75241878 | 75206230 | AAAAAAAA others(43): Show |
A | intron_variant | MODIFIER | HG02970.hp1 NA19043.hp2 |
a0003 | a0003c0012 | a0003c0012t0001 | a0003c0012t0001g0093 a0003c0012t0001g0100 |
2 | 315 | 0.0063 | -50 | c.403 others(65): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 5/25 | chr5 | TogoVar | |||||||
ANKRD31_chr5_75063297_75241878 | 75206232 | AAAAAAAA others(43): Show |
A | intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0042 | 1 | 314 | 0.0032 | -50 | c.403 others(65): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 5/25 | chr5 | TogoVar | |||||||
ANKRD31_chr5_75063297_75241878 | 75206234 | AAAAAAAA others(43): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG03579.hp2 NA18906.hp1 |
a0001a0003 | a0001c0005a0001c0024a0003c0006 | a0001c0005t0001a0001c0024t0007a0003c0006t0001 | a0001c0005t0001g0302 a0001c0024t0007g0021 a0003c0006t0001g0163 |
3 | 326 | 0.0092 | -50 | c.403 others(65): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 5/25 | chr5 | TogoVar | |||||||
ANKRD31_chr5_75063297_75241878 | 75206236 | AAAAAAAA others(43): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG02572.hp1 HG02622.hp1 others(6): Show |
a0001a0003a0009 | a0001c0005a0003c0006a0009c0034 | a0001c0005t0001a0003c0006t0001a0003c0006t0004others(1): Show | a0001c0005t0001g0297 a0001c0005t0001g0303 a0001c0005t0001g0304 others(6): Show |
9 | 326 | 0.0276 | -50 | c.403 others(65): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 5/25 | chr5 | TogoVar | |||||||
ANKRD54_chr22_37825855_37849334 | 37845116 | AGTAATAG others(43): Show |
A | upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 382 | 0.0026 | -50 | c.-92 others(59): Show |
ANKRD54 | ENSG00000100124.15 | transcript | ENST00000215941.9 | protein_coding | 783 | chr22 | TogoVar | |||||||
ANTXR2_chr4_79896146_80078229 | 80015893 | AAGGAAAG others(43): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00673.hp2 HG01070.hp1 others(41): Show |
a0001a0002a0007 | a0001c0001a0001c0008a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(16): Show | a0001c0001t0002g0207 a0001c0001t0002g0212 a0001c0001t0002g0213 others(41): Show |
44 | 245 | 0.1796 | -50 | c.945 others(67): Show |
ANTXR2 | ENSG00000163297.18 | transcript | ENST00000403729.7 | protein_coding | 11/16 | chr4 | TogoVar | |||||||
ANXA10_chr4_168087537_168192736 | 168155729 | ATATGATA others(43): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0118 | 1 | 282 | 0.0035 | -50 | c.196 others(67): Show |
ANXA10 | ENSG00000109511.12 | transcript | ENST00000359299.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ANXA2_chr15_60342151_60402986 | 60367167 | AGGGGGGG others(43): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0253 |
2 | 318 | 0.0063 | -50 | c.149 others(67): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 3/12 | chr15 | TogoVar | |||||||
AP1B1_chr22_29322680_29393570 | 29324982 | GAGCCTGG others(43): Show |
G | downstream_gene_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 376 | 0.0027 | -50 | c.*37 others(61): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 2697 | chr22 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 1009427 | GACACGCA others(43): Show |
G | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 266 | 0.0038 | -50 | c.260 others(65): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 1009439 | GTGACCCC others(43): Show |
G | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0132 | 1 | 266 | 0.0038 | -50 | c.260 others(66): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 1009539 | GCGACCCA others(43): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG01978.hp1 HG01981.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0007 | a0001c0001t0001a0001c0001t0016a0001c0004t0009others(1): Show | a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0053 others(4): Show |
7 | 265 | 0.0264 | -50 | c.260 others(65): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |