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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AATK_chr17_81112295_81171221 | 81140924 | ACCGTGGG others(40): Show |
A | intron_variant | MODIFIER | HG01255.hp2 HG02809.hp1 HG02895.hp1 |
a0012a0016 | a0012c0016a0016c0022 | a0012c0016t0001a0016c0022t0009 | a0012c0016t0001g0179 a0016c0022t0009g0240 a0016c0022t0009g0262 |
3 | 325 | 0.0092 | -47 | c.56- others(62): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81143478 | CGCAGCCC others(40): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG00733.hp2 others(30): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0011a0002c0002others(14): Show | a0001c0001t0001a0001c0011t0001a0002c0002t0001others(15): Show | a0001c0001t0001g0006 a0001c0001t0001g0092 a0001c0011t0001g0195 others(27): Show |
33 | 366 | 0.0902 | -47 | c.56- others(62): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81143512 | CTTCCCCC others(40): Show |
C | intron_variant | MODIFIER | HG02717.hp2 | a0005 | a0005c0021 | a0005c0021t0001 | a0005c0021t0001g0202 | 1 | 365 | 0.0027 | -47 | c.56- others(62): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69146192 | AATATATA others(40): Show |
A | downstream_gene_variant | MODIFIER | HG02451.hp1 | a0014 | a0014c0021 | a0014c0021t0006 | a0014c0021t0006g0304 | 1 | 346 | 0.0029 | -47 | c.*25 others(58): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 1814 | chr17 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104862644 | CGGGCCGG others(40): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG03139.hp1 |
a0011a0020 | a0011c0102a0020c0086 | a0011c0102t0007a0020c0086t0003 | a0011c0102t0007g0243 a0020c0086t0003g0103 |
2 | 283 | 0.0071 | -47 | c.422 others(62): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104862671 | GGCCGGGC others(40): Show |
G | intron_variant | MODIFIER | HG00741.hp1 | a0009 | a0009c0018 | a0009c0018t0004 | a0009c0018t0004g0216 | 1 | 273 | 0.0037 | -47 | c.422 others(62): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69146192 | AATATATA others(40): Show |
A | upstream_gene_variant | MODIFIER | HG02451.hp2 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0167 | 1 | 323 | 0.0031 | -47 | c.-45 others(58): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4298 | chr17 | TogoVar | |||||||
ABCC10_chr6_43422541_43455427 | 43449682 | TCCTTTAT others(40): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0150 |
3 | 340 | 0.0088 | -47 | c.431 others(64): Show |
ABCC10 | ENSG00000124574.15 | transcript | ENST00000372530.9 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ABCC2_chr10_99777640_99857594 | 99838689 | CCCCCACC others(40): Show |
C | intron_variant | MODIFIER | HG02055.hp1 | a0004 | a0004c0029 | a0004c0029t0001 | a0004c0029t0001g0329 | 1 | 334 | 0.0030 | -47 | c.361 others(66): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 25/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ABCC2_chr10_99777640_99857594 | 99839460 | GGGGGGCT others(40): Show |
G | intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0305 | 1 | 334 | 0.0030 | -47 | c.361 others(66): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 25/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ABCC2_chr10_99777640_99857594 | 99839470 | CCCCCCAC others(40): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG02109.hp1 HG02622.hp2 others(5): Show |
a0001a0004a0023 | a0001c0001a0004c0006a0023c0018 | a0001c0001t0001a0004c0006t0001a0023c0018t0001 | a0001c0001t0001g0308 a0004c0006t0001g0022 a0004c0006t0001g0038 others(5): Show |
8 | 334 | 0.0240 | -47 | c.361 others(66): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 25/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ABCC2_chr10_99777640_99857594 | 99839518 | CCCCCCAC others(40): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG01516.hp1 HG04228.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0246 others(3): Show |
6 | 334 | 0.0180 | -47 | c.361 others(66): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 25/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50674002 | CTCTCTCT others(40): Show |
C | intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0036 | a0002c0036t0001 | a0002c0036t0001g0231 | 1 | 265 | 0.0038 | -47 | c.259 others(64): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ABHD10_chr3_111974026_111998368 | 111994647 | AGAAAGCT others(40): Show |
A | downstream_gene_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 422 | 0.0024 | -47 | c.*29 others(58): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 1280 | chr3 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1131219 | TCCCCCCT others(40): Show |
T | intron_variant | MODIFIER | HG02015.hp2 HG02040.hp2 HG02132.hp1 others(10): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(9): Show | a0001c0001t0001g0188 a0001c0001t0004g0258 a0001c0001t0004g0301 others(10): Show |
13 | 336 | 0.0387 | -47 | c.62- others(62): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49800129 | TGGGGGTC others(40): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(262): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0004a0004c0007others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(24): Show | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0005 others(207): Show |
265 | 432 | 0.6134 | -47 | c.183 others(64): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126128645 | ATGTGGGA others(40): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02886.hp2 HG02970.hp1 others(1): Show |
a0001a0011 | a0001c0002a0001c0004a0011c0041 | a0001c0002t0001a0001c0002t0016a0001c0004t0010others(1): Show | a0001c0002t0001g0245 a0001c0002t0016g0014 a0001c0004t0010g0199 others(1): Show |
4 | 250 | 0.0160 | -47 | c.416 others(64): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 5/22 | chr10 | TogoVar | |||||||
ADAMTS10_chr19_8575240_8615715 | 8611975 | AACGCCCC others(40): Show |
A | upstream_gene_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 382 | 0.0026 | -47 | c.-15 others(58): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 1261 | chr19 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179277671 | GACACCCC others(40): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG01167.hp1 others(16): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0022a0001c0064others(11): Show | a0001c0001t0006a0001c0001t0024a0001c0022t0002others(13): Show | a0001c0001t0006g0106 a0001c0001t0024g0053 a0001c0022t0002g0098 others(16): Show |
19 | 274 | 0.0693 | -47 | c.535 others(64): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179277718 | AACCCCCC others(40): Show |
A | intron_variant | MODIFIER | NA18966.hp2 | a0002 | a0002c0010 | a0002c0010t0003 | a0002c0010t0003g0242 | 1 | 231 | 0.0043 | -47 | c.535 others(64): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179277911 | CCCCGAGA others(40): Show |
C | intron_variant | MODIFIER | NA20805.hp2 | a0004 | a0004c0077 | a0004c0077t0017 | a0004c0077t0017g0135 | 1 | 265 | 0.0038 | -47 | c.535 others(64): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179277929 | ACCCCCCC others(40): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG01071.hp2 NA18612.hp1 others(4): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0002c0010others(4): Show | a0001c0001t0006a0002c0003t0001a0002c0010t0003others(4): Show | a0001c0001t0006g0106 a0002c0003t0001g0224 a0002c0010t0003g0242 others(4): Show |
7 | 266 | 0.0263 | -47 | c.535 others(64): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADAP1_chr7_892900_959680 | 924392 | CTCCGGGT others(40): Show |
C | intron_variant | MODIFIER | HG01993.hp2 HG03654.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 |
3 | 12 | 0.2500 | -47 | c.305 others(64): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 3/10 | chr7 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1235765 | CAAAGAGC others(40): Show |
C | intron_variant | MODIFIER | NA20129.hp1 | a0002 | a0002c0002 | a0002c0002t0053 | a0002c0002t0053g0106 | 1 | 100 | 0.0100 | -47 | c.136 others(66): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1237068 | CCGGTGGT others(40): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0022a0002c0002t0005 | a0001c0001t0022g0015 a0002c0002t0005g0022 |
2 | 102 | 0.0196 | -47 | c.136 others(66): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1237297 | CCCCTCTC others(40): Show |
C | intron_variant | MODIFIER | NA18995.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0084 | 1 | 106 | 0.0094 | -47 | c.136 others(66): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1238890 | TTACTCCC others(40): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp1 HG01884.hp1 others(5): Show |
a0001a0002a0009others(1): Show | a0001c0001a0002c0002a0009c0015others(1): Show | a0001c0001t0011a0001c0001t0055a0002c0002t0004others(5): Show | a0001c0001t0011g0026 a0001c0001t0055g0089 a0002c0002t0004g0101 others(5): Show |
8 | 106 | 0.0755 | -47 | c.136 others(66): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1239645 | CCCCTCTC others(40): Show |
C | intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0099 | 1 | 106 | 0.0094 | -47 | c.136 others(66): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1239693 | CCCCTCTG others(40): Show |
C | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0007 | a0001c0007t0033 | a0001c0007t0033g0041 | 1 | 106 | 0.0094 | -47 | c.136 others(66): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1239885 | CCCCTCTC others(40): Show |
C | intron_variant | MODIFIER | NA18984.hp2 NA18995.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0057 | a0001c0001t0003g0085 a0001c0001t0057g0103 |
2 | 105 | 0.0190 | -47 | c.136 others(66): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADGRL4_chr1_78884764_79011730 | 79001164 | AAGGAAGG others(40): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp2 others(92): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 others(83): Show |
95 | 384 | 0.2474 | -47 | c.172 others(64): Show |
ADGRL4 | ENSG00000162618.15 | transcript | ENST00000370742.4 | protein_coding | 2/14 | chr1 | TogoVar | |||||||
AFF3_chr2_99540419_100147590 | 99626308 | GCCTCCCT others(40): Show |
G | intron_variant | MODIFIER | HG02055.hp1 NA18906.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010a0001c0001t0015 | a0001c0001t0005g0075 a0001c0001t0010g0057 a0001c0001t0015g0002 |
3 | 98 | 0.0306 | -47 | c.118 others(68): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 13/24 | chr2 | TogoVar | |||||||
AGAP1_chr2_235489043_236136793 | 235573007 | TTCTTCTT others(40): Show |
T | intron_variant | MODIFIER | HG02615.hp2 HG03516.hp2 |
a0001 | a0001c0001a0001c0019 | a0001c0001t0012a0001c0019t0007 | a0001c0001t0012g0071 a0001c0019t0007g0056 |
2 | 97 | 0.0206 | -47 | c.163 others(66): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGBL1_chr15_86074871_86921156 | 86633833 | GTATATAT others(40): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG00735.hp2 others(33): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(31): Show | a0001c0001t0003g0098 a0001c0001t0003g0113 a0001c0001t0005g0110 others(33): Show |
36 | 132 | 0.2727 | -47 | c.299 others(68): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AGGF1_chr5_77025404_77070234 | 77042767 | CCCCCCCA others(40): Show |
C | intron_variant | MODIFIER | NA18992.hp2 NA19065.hp2 |
a0002 | a0002c0003 | a0002c0003t0002a0002c0003t0016 | a0002c0003t0002g0057 a0002c0003t0016g0002 |
2 | 436 | 0.0046 | -47 | c.870 others(64): Show |
AGGF1 | ENSG00000164252.13 | transcript | ENST00000312916.12 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AGR2_chr7_16786811_16809999 | 16789677 | GGGGGCTG others(40): Show |
G | downstream_gene_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0023 | 1 | 458 | 0.0022 | -47 | c.*31 others(58): Show |
AGR2 | ENSG00000106541.12 | transcript | ENST00000419304.7 | protein_coding | 2133 | chr7 | TogoVar | |||||||
AGR2_chr7_16786811_16809999 | 16789685 | AGCCCCCC others(40): Show |
A | downstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 | 1 | 458 | 0.0022 | -47 | c.*31 others(58): Show |
AGR2 | ENSG00000106541.12 | transcript | ENST00000419304.7 | protein_coding | 2125 | chr7 | TogoVar | |||||||
AGR2_chr7_16786811_16809999 | 16789686 | GCCCCCCA others(40): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00733.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0014others(1): Show | a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0003g0042 others(22): Show |
35 | 458 | 0.0764 | -47 | c.*31 others(58): Show |
AGR2 | ENSG00000106541.12 | transcript | ENST00000419304.7 | protein_coding | 2124 | chr7 | TogoVar | |||||||
AGRN_chr1_1015120_1061116 | 1041776 | CCGGCCAG others(40): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(152): Show |
a0001a0002a0006others(19): Show | a0001c0001a0001c0004a0001c0006others(37): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(42): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(144): Show |
155 | 208 | 0.7452 | -47 | c.117 others(63): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 6/35 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AIRE_chr21_44280876_44303648 | 44293804 | GCGCGTTG others(40): Show |
G | frameshift_variant | HIGH | HG01256.hp1 | a0005 | a0005c0040 | a0005c0040t0001 | a0005c0040t0001g0157 | 1 | 424 | 0.0024 | -47 | c.129 others(56): Show |
p.Arg others(5): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 11/14 | 1427/2690 | 1296/1638 | 432/545 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||
AKAP10_chr17_19899302_19982828 | 19951143 | GCAGCCCC others(40): Show |
G | intron_variant | MODIFIER | HG02970.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0056 a0001c0001t0010g0057 |
2 | 266 | 0.0075 | -47 | c.878 others(64): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 4/14 | chr17 | TogoVar | |||||||
AKAP10_chr17_19899302_19982828 | 19951169 | ATCTGGGA others(40): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0006 | a0001c0006t0022 | a0001c0006t0022g0055 | 1 | 165 | 0.0061 | -47 | c.878 others(64): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 4/14 | chr17 | TogoVar | |||||||
AKAP10_chr17_19899302_19982828 | 19951172 | TGGGAGGG others(40): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG01070.hp1 others(40): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0051 a0001c0001t0002g0006 a0001c0001t0002g0009 others(40): Show |
43 | 263 | 0.1635 | -47 | c.878 others(64): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 4/14 | chr17 | TogoVar | |||||||
AKAP17A_chrX_1586604_1607520 | 1596431 | CTCCTCCT others(40): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(66): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(15): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(50): Show |
69 | 141 | 0.4894 | -47 | c.911 others(62): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ALG10B_chr12_38311774_38334721 | 38330369 | GCCCCCCA others(40): Show |
G | downstream_gene_variant | MODIFIER | HG03927.hp2 NA18976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 446 | 0.0045 | -47 | c.*91 others(58): Show |
ALG10B | ENSG00000175548.9 | transcript | ENST00000308742.9 | protein_coding | 649 | chr12 | TogoVar | |||||||
ALOX15B_chr17_8034059_8054134 | 8044762 | GTGTCCCC others(40): Show |
G | splice_acceptor_variant others(2): Show |
HIGH | HG02738.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 a0001c0001t0001g0195 |
2 | 468 | 0.0043 | -47 | c.677 others(59): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8107918 | AAAGAAAG others(40): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG03209.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0030 a0001c0002t0003g0349 |
2 | 420 | 0.0048 | -47 | c.168 others(64): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38610335 | AAAGAAAA others(40): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG06807.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0005t0004 | a0001c0001t0003g0158 a0001c0005t0004g0162 |
2 | 230 | 0.0087 | -47 | c.69+ others(64): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | |||||||
ANAPC1_chr2_111762640_111889193 | 111858482 | CGGGCGCG others(40): Show |
C | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0007 | a0001c0007t0007 | a0001c0007t0007g0255 | 1 | 336 | 0.0030 | -47 | c.126 others(63): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 10/47 | chr2 | TogoVar | |||||||
ANKRA2_chr5_73547190_73570639 | 73561588 | AAACCCCA others(40): Show |
A | intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 | 1 | 390 | 0.0026 | -47 | c.290 others(62): Show |
ANKRA2 | ENSG00000164331.10 | transcript | ENST00000296785.8 | protein_coding | 2/8 | chr5 | TogoVar |