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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCC4_chr13_95014835_95306451 | 95196582 | GAGGAAGG others(53): Show |
G | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0046 | a0001c0046t0001 | a0001c0046t0001g0078 | 1 | 248 | 0.0040 | -60 | c.116 others(79): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 8/30 | chr13 | TogoVar | |||||||
ABCG1_chr21_42214140_42302244 | 42283740 | CCCCCCAC others(53): Show |
C | intron_variant | MODIFIER | HG01192.hp2 NA18987.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0231 a0001c0001t0002g0291 |
2 | 354 | 0.0057 | -60 | c.735 others(75): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42284140 | CCCCCCCG others(53): Show |
C | intron_variant | MODIFIER | HG01934.hp1 HG02129.hp1 NA18522.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0213 a0001c0001t0002g0309 a0001c0002t0002g0094 others(1): Show |
4 | 354 | 0.0113 | -60 | c.735 others(75): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42292713 | ACACACTA others(53): Show |
A | intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0046 | 1 | 354 | 0.0028 | -60 | c.165 others(79): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1037021 | TTCCTTCC others(53): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01106.hp1 HG01109.hp1 others(30): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0098 a0001c0001t0001g0148 a0001c0001t0001g0157 others(30): Show |
33 | 337 | 0.0979 | -60 | c.179 others(81): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1119256 | TCCTCCCA others(53): Show |
T | intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0079 | 1 | 337 | 0.0030 | -60 | c.246 others(77): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1159399 | AGAAGTAG others(53): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01257.hp2 HG01258.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0002g0131 a0001c0001t0003g0130 a0001c0001t0005g0282 others(4): Show |
7 | 337 | 0.0208 | -60 | c.61+ others(77): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ABTB3_chr12_107313434_107664642 | 107469954 | TTCTTTCT others(53): Show |
T | intron_variant | MODIFIER | HG02615.hp1 NA18981.hp1 |
a0002a0003 | a0002c0002a0003c0008 | a0002c0002t0010a0003c0008t0001 | a0002c0002t0010g0173 a0003c0008t0001g0052 |
2 | 186 | 0.0108 | -60 | c.113 others(81): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107469958 | TTCTTTCT others(53): Show |
T | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0095 | 1 | 186 | 0.0054 | -60 | c.113 others(81): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAD10_chr12_111681053_111762099 | 111697908 | TCATTTGC others(53): Show |
T | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 336 | 0.0030 | -60 | c.188 others(77): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACADS_chr12_120720826_120745008 | 120733535 | CTGCCTGC others(53): Show |
C | intron_variant | MODIFIER | HG02004.hp2 HG02683.hp2 HG03239.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0004a0002c0015 | a0001c0001t0001a0002c0004t0002a0002c0015t0002 | a0001c0001t0001g0238 a0002c0004t0002g0048 a0002c0004t0002g0174 others(2): Show |
5 | 426 | 0.0117 | -60 | c.211 others(77): Show |
ACADS | ENSG00000122971.9 | transcript | ENST00000242592.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1288547 | TCCCCCGT others(53): Show |
T | downstream_gene_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 295 | 0.0034 | -60 | c.*49 others(71): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3843 | chr1 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1288567 | TCCCCCGT others(53): Show |
T | downstream_gene_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 295 | 0.0034 | -60 | c.*49 others(71): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3823 | chr1 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1289165 | TCCCCCGT others(53): Show |
T | downstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 295 | 0.0034 | -60 | c.*43 others(71): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3225 | chr1 | TogoVar | |||||||
ACLY_chr17_41861918_41923951 | 41865493 | TGCGCCGC others(53): Show |
T | downstream_gene_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0054 | 1 | 294 | 0.0034 | -60 | c.*22 others(71): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 1424 | chr17 | TogoVar | |||||||
ACOT7_chr1_6259272_6398767 | 6307828 | GCAGAGGG others(53): Show |
G | intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 240 | 0.0042 | -60 | c.712 others(79): Show |
ACOT7 | ENSG00000097021.21 | transcript | ENST00000361521.9 | protein_coding | 6/8 | chr1 | TogoVar | |||||||
ACOT7_chr1_6259272_6398767 | 6354670 | GCACTGGC others(53): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 a0001c0001t0002g0144 a0001c0001t0002g0145 |
3 | 240 | 0.0125 | -60 | c.144 others(77): Show |
ACOT7 | ENSG00000097021.21 | transcript | ENST00000361521.9 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
ACSF3_chr16_89088852_89161233 | 89147362 | CCACAGAG others(53): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02155.hp2 HG02280.hp1 others(2): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0044a0002c0002t0056a0002c0003t0005 | a0002c0002t0044g0124 a0002c0002t0056g0125 a0002c0003t0005g0024 others(2): Show |
5 | 368 | 0.0136 | -60 | c.161 others(79): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735670 | CGCGGGGC others(53): Show |
C | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0205 a0001c0001t0002g0212 |
2 | 314 | 0.0064 | -60 | c.*62 others(71): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4082 | chr19 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157826697 | GAAGGAAA others(53): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 |
a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0009 a0001c0002t0011g0010 |
2 | 174 | 0.0115 | -60 | c.-18 others(79): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 54197935 | ATGTATTA others(53): Show |
A | intron_variant | MODIFIER | HG03139.hp1 NA20129.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0006 | a0001c0001t0001g0130 a0001c0002t0006g0006 |
2 | 272 | 0.0074 | -60 | c.404 others(79): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54197942 | ATATTGTA others(53): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG01891.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0012a0001c0002t0001others(2): Show | a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0164 others(9): Show |
12 | 272 | 0.0441 | -60 | c.404 others(79): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ADAM18_chr8_39579568_39735065 | 39654040 | CTTCCACA others(53): Show |
C | intron_variant | MODIFIER | HG03139.hp2 HG03195.hp2 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0195 a0001c0007t0001g0227 |
2 | 347 | 0.0058 | -60 | c.123 others(79): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 12/19 | chr8 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100339564 | CCCACATT others(53): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00741.hp1 HG00741.hp2 others(12): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0005a0001c0007others(10): Show | a0001c0002t0065a0001c0005t0005a0001c0007t0006others(11): Show | a0001c0002t0065g0071 a0001c0005t0005g0193 a0001c0007t0006g0202 others(12): Show |
15 | 228 | 0.0658 | -60 | c.450 others(77): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 2/21 | chr15 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179134927 | CAGCCCCC others(53): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG02300.hp2 others(7): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0002c0002others(5): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(5): Show | a0001c0001t0001g0049 a0001c0001t0001g0066 a0001c0004t0001g0146 others(7): Show |
10 | 276 | 0.0362 | -60 | c.208 others(77): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 13/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179331396 | TGGAGGGA others(53): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG01258.hp1 HG02040.hp1 others(6): Show |
a0008a0014a0021others(5): Show | a0008c0010a0014c0038a0021c0088others(5): Show | a0008c0010t0003a0014c0038t0002a0014c0038t0019others(6): Show | a0008c0010t0003g0257 a0014c0038t0002g0219 a0014c0038t0019g0213 others(6): Show |
9 | 276 | 0.0326 | -60 | c.534 others(79): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72550021 | AGAAGAAG others(53): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG03041.hp2 HG06807.hp2 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0003a0003c0005t0006 | a0001c0001t0001g0083 a0001c0001t0003g0024 a0003c0005t0006g0151 |
3 | 182 | 0.0165 | -60 | c.98- others(75): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 2/21 | chr4 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1558504 | ATCTGCAT others(53): Show |
A | intron_variant | MODIFIER | HG04184.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0075 | 1 | 106 | 0.0094 | -60 | c.100 others(81): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADGB_chr6_146593972_146820462 | 146691417 | TATATATA others(53): Show |
T | intron_variant | MODIFIER | HG02647.hp2 | a0003 | a0003c0034 | a0003c0034t0001 | a0003c0034t0001g0236 | 1 | 276 | 0.0036 | -60 | c.148 others(77): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 11/35 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133127751 | CCCTCCGC others(53): Show |
C | intron_variant | MODIFIER | HG00735.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0043a0001c0001t0066 | a0001c0001t0043g0031 a0001c0001t0066g0216 |
2 | 368 | 0.0054 | -60 | c.500 others(75): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133127761 | TGCCCCGC others(53): Show |
T | intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 368 | 0.0027 | -60 | c.501 others(75): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRB3_chr6_68630282_69394506 | 69392292 | GCCAATTT others(53): Show |
G | downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0105 | 1 | 120 | 0.0083 | -60 | c.*34 others(71): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 2787 | chr6 | TogoVar | |||||||
ADGRD1_chr12_130948907_131146469 | 131067781 | TCTGTATG others(53): Show |
T | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0003 | a0001c0003t0036 | a0001c0003t0036g0209 | 1 | 242 | 0.0041 | -60 | c.147 others(79): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ADRA1D_chr20_4215630_4254287 | 4227651 | TTTCCTTC others(53): Show |
T | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0368 | 1 | 452 | 0.0022 | -60 | c.111 others(79): Show |
ADRA1D | ENSG00000171873.8 | transcript | ENST00000379453.6 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
AFDN_chr6_167821911_167977023 | 167940993 | ATGTGTGG others(53): Show |
A | intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0005 | a0001c0005t0015 | a0001c0005t0015g0074 | 1 | 326 | 0.0031 | -60 | c.310 others(79): Show |
AFDN | ENSG00000130396.22 | transcript | ENST00000683244.1 | protein_coding | 23/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AGAP1_chr2_235489043_236136793 | 235564634 | CCAGGTGT others(53): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG03540.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0014 | a0001c0001t0002g0047 a0001c0002t0014g0076 |
2 | 98 | 0.0204 | -60 | c.163 others(79): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGBL1_chr15_86074871_86921156 | 86633805 | ATATATAA others(53): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0004 | a0004c0009 | a0004c0009t0049 | a0004c0009t0049g0071 | 1 | 132 | 0.0076 | -60 | c.299 others(81): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AGBL1_chr15_86074871_86921156 | 86827430 | CACATATA others(53): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG01192.hp2 others(4): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0008others(4): Show | a0001c0001t0047a0001c0002t0062a0001c0008t0001others(4): Show | a0001c0001t0047g0014 a0001c0002t0062g0031 a0001c0008t0001g0079 others(4): Show |
7 | 132 | 0.0530 | -60 | c.315 others(81): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15354365 | TATAGACG others(53): Show |
T | intron_variant | MODIFIER | HG03139.hp1 | a0006 | a0006c0012 | a0006c0012t0003 | a0006c0012t0003g0223 | 1 | 236 | 0.0042 | -60 | c.126 others(81): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
AGO2_chr8_140515156_140640633 | 140622276 | TGGGGGAA others(53): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG00639.hp2 others(53): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(30): Show | a0001c0001t0001g0218 a0001c0001t0001g0234 a0001c0001t0001g0236 others(53): Show |
56 | 338 | 0.1657 | -60 | c.22+ others(77): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 1/18 | chr8 | TogoVar | |||||||
AGO2_chr8_140515156_140640633 | 140622306 | TGGGGGAA others(53): Show |
T | intron_variant | MODIFIER | HG01975.hp2 HG02055.hp2 HG02109.hp1 others(10): Show |
a0001 | a0001c0003a0001c0005a0001c0007others(1): Show | a0001c0003t0006a0001c0003t0030a0001c0003t0059others(4): Show | a0001c0003t0006g0318 a0001c0003t0006g0319 a0001c0003t0006g0326 others(10): Show |
13 | 338 | 0.0385 | -60 | c.22+ others(77): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 1/18 | chr8 | TogoVar | |||||||
AGO2_chr8_140515156_140640633 | 140622606 | CGGGGGAA others(53): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01071.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0043a0001c0001t0044a0001c0002t0004others(2): Show | a0001c0001t0043g0122 a0001c0001t0044g0144 a0001c0001t0044g0145 others(3): Show |
6 | 338 | 0.0178 | -60 | c.22+ others(77): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 1/18 | chr8 | TogoVar | |||||||
AGO2_chr8_140515156_140640633 | 140622648 | CCACATGG others(53): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0069a0001c0001t0114 | a0001c0001t0069g0098 a0001c0001t0114g0097 |
2 | 338 | 0.0059 | -60 | c.22+ others(77): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 1/18 | chr8 | TogoVar | |||||||
AGO2_chr8_140515156_140640633 | 140623151 | GAATAATC others(53): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG02523.hp2 NA18522.hp2 others(1): Show |
a0001 | a0001c0002a0001c0006a0001c0009others(1): Show | a0001c0002t0016a0001c0006t0126a0001c0009t0050others(1): Show | a0001c0002t0016g0310 a0001c0006t0126g0300 a0001c0009t0050g0301 others(1): Show |
4 | 338 | 0.0118 | -60 | c.22+ others(77): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 1/18 | chr8 | TogoVar | |||||||
AK8_chr9_132720578_132883284 | 132821769 | GTATATGT others(53): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG01106.hp2 HG02083.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0146 others(10): Show |
13 | 266 | 0.0489 | -60 | c.889 others(77): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 9/12 | chr9 | TogoVar | |||||||
ALDH1A3_chr15_100874831_100921626 | 100887320 | GTCAAAAG others(53): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG00738.hp2 HG01169.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0011 a0001c0001t0015g0011 |
5 | 414 | 0.0121 | -60 | c.205 others(75): Show |
ALDH1A3 | ENSG00000184254.17 | transcript | ENST00000329841.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ALDH1A3_chr15_100874831_100921626 | 100887336 | CAAACTGC others(53): Show |
C | intron_variant | MODIFIER | NA18978.hp2 NA19000.hp1 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0023 | a0001c0001t0006g0008 a0001c0001t0006g0119 a0001c0001t0023g0124 |
3 | 414 | 0.0073 | -60 | c.205 others(75): Show |
ALDH1A3 | ENSG00000184254.17 | transcript | ENST00000329841.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3702646 | ATTTAATA others(53): Show |
A | splice_region_variant | LOW | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0097 | 1 | 274 | 0.0037 | -60 | c.*84 others(68): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 12/12 | chr2 | TogoVar | |||||||
AMER3_chr2_130750540_130773134 | 130754910 | GACTGTGG others(53): Show |
G | upstream_gene_variant | MODIFIER | HG02165.hp2 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0020 a0001c0001t0008g0020 |
2 | 360 | 0.0056 | -60 | c.-78 others(69): Show |
AMER3 | ENSG00000178171.12 | transcript | ENST00000321420.5 | protein_coding | 629 | chr2 | TogoVar | |||||||
AMTN_chr4_70513569_70537743 | 70516344 | ATATATAT others(53): Show |
A | upstream_gene_variant | MODIFIER | HG02738.hp2 HG03239.hp2 HG03704.hp2 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0026 a0002c0003t0001g0042 a0002c0003t0001g0043 |
5 | 458 | 0.0109 | -60 | c.-23 others(71): Show |
AMTN | ENSG00000187689.10 | transcript | ENST00000339336.9 | protein_coding | 2224 | chr4 | TogoVar |