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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 44 | 0.0227 | 32 | c.161 others(51): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43547524 | C | CCCTCTGA others(25): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0128 | 1 | 304 | 0.0033 | 32 | c.453 others(49): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 2/38 | chr12 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179209550 | A | ACACACAC others(25): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02723.hp2 |
a0001 | a0001c0001a0001c0070 | a0001c0001t0004a0001c0070t0001 | a0001c0001t0004g0122 a0001c0070t0001g0081 |
2 | 254 | 0.0079 | 32 | c.689 others(49): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 3/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179209552 | A | ACACACGC others(25): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02809.hp2 HG02922.hp1 others(1): Show |
a0001a0003 | a0001c0014a0003c0008a0003c0012 | a0001c0014t0002a0001c0014t0013a0003c0008t0001others(1): Show | a0001c0014t0002g0072 a0001c0014t0013g0112 a0003c0008t0001g0149 others(1): Show |
4 | 274 | 0.0146 | 32 | c.689 others(49): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 3/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179217855 | G | GAGATGGT others(25): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02818.hp1 HG03195.hp1 others(3): Show |
a0001a0002a0003others(2): Show | a0001c0048a0002c0108a0003c0043others(3): Show | a0001c0048t0004a0002c0108t0008a0003c0043t0014others(3): Show | a0001c0048t0004g0195 a0002c0108t0008g0207 a0003c0043t0014g0193 others(3): Show |
6 | 254 | 0.0236 | 32 | c.689 others(51): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 3/21 | chr5 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72533600 | C | CATATGCA others(25): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG01884.hp1 others(34): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0018others(13): Show | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0015 others(34): Show |
37 | 85 | 0.4353 | 32 | c.504 others(51): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTS4_chr1_161179302_161204054 | 161188883 | A | AATATATA others(25): Show |
3_prime_UTR_variant | MODIFIER | HG01070.hp2 HG01361.hp2 HG01515.hp2 others(20): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0004c0005others(1): Show | a0001c0001t0020a0001c0001t0021a0001c0001t0110others(14): Show | a0001c0001t0020g0012 a0001c0001t0021g0013 a0001c0001t0110g0137 others(14): Show |
23 | 85 | 0.2706 | 32 | c.*22 others(43): Show |
ADAMTS4 | ENSG00000158859.10 | transcript | ENST00000367996.6 | protein_coding | 9/9 | 2254 | chr1 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65352176 | G | GATAAAAT others(25): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01978.hp1 HG01993.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0006a0001c0008t0006 | a0001c0001t0001g0147 a0001c0001t0006g0135 a0001c0008t0006g0130 |
3 | 201 | 0.0149 | 32 | c.107 others(53): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 7/24 | chr5 | TogoVar | |||||||
ADAMTSL1_chr9_18469153_18915950 | 18503421 | G | GTGTATAT others(25): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00741.hp1 HG02135.hp1 |
a0001a0002a0004 | a0001c0024a0002c0001a0004c0015 | a0001c0024t0001a0002c0001t0001a0004c0015t0002 | a0001c0024t0001g0137 a0002c0001t0001g0160 a0004c0015t0002g0201 |
3 | 112 | 0.0268 | 32 | c.64- others(47): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18503421 | G | GTGTGTAT others(25): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0003 | a0003c0011 | a0003c0011t0021 | a0003c0011t0021g0204 | 1 | 110 | 0.0091 | 32 | c.64- others(47): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18588884 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0027 | a0001c0027t0001 | a0001c0027t0001g0033 | 1 | 190 | 0.0053 | 32 | c.474 others(51): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18688685 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0110 | 1 | 198 | 0.0051 | 32 | c.157 others(51): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18688689 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0011 | a0011c0076 | a0011c0076t0027 | a0011c0076t0027g0072 | 1 | 33 | 0.0303 | 32 | c.157 others(51): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18688689 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0074 | a0002c0074t0003 | a0002c0074t0003g0034 | 1 | 33 | 0.0303 | 32 | c.157 others(51): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18688689 | A | AAAAAATA others(25): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01257.hp2 NA20300.hp2 |
a0001a0002 | a0001c0007a0001c0023a0002c0018 | a0001c0007t0031a0001c0023t0001a0002c0018t0003 | a0001c0007t0031g0140 a0001c0023t0001g0175 a0002c0018t0003g0092 |
3 | 35 | 0.0857 | 32 | c.157 others(51): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18688689 | A | AAAATATA others(25): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0176 | 1 | 33 | 0.0303 | 32 | c.157 others(51): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18866116 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03195.hp1 HG03209.hp1 others(5): Show |
a0001a0002a0007others(1): Show | a0001c0006a0002c0001a0002c0004others(4): Show | a0001c0006t0003a0002c0001t0003a0002c0004t0003others(4): Show | a0001c0006t0003g0129 a0002c0001t0003g0217 a0002c0004t0003g0044 others(5): Show |
8 | 59 | 0.1356 | 32 | c.425 others(53): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL2_chr9_133529704_133580519 | 133564302 | G | GAAAGAGA others(25): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0124 | 1 | 149 | 0.0067 | 32 | c.174 others(51): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL2_chr9_133529704_133580519 | 133564365 | G | GGAGAGAG others(25): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0149 | 1 | 117 | 0.0085 | 32 | c.174 others(51): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83674766 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02717.hp2 HG03704.hp1 others(1): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0020others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0020t0001others(1): Show | a0001c0001t0001g0149 a0002c0002t0001g0156 a0002c0020t0001g0151 others(1): Show |
4 | 110 | 0.0364 | 32 | c.69+ others(49): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83714761 | C | CTCTTTCT others(25): Show |
intron_variant | MODIFIER | HG02717.hp2 HG04204.hp1 HG04228.hp1 others(1): Show |
a0002a0005 | a0002c0020a0005c0006 | a0002c0020t0001a0005c0006t0001 | a0002c0020t0001g0151 a0005c0006t0001g0127 a0005c0006t0001g0145 others(1): Show |
4 | 260 | 0.0154 | 32 | c.189 others(51): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83714785 | T | TTCTTTCT others(25): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01069.hp2 HG01099.hp1 others(4): Show |
a0006a0008a0024 | a0006c0005a0008c0011a0024c0037 | a0006c0005t0002a0008c0011t0001a0024c0037t0002 | a0006c0005t0002g0007 a0006c0005t0002g0011 a0006c0005t0002g0024 others(4): Show |
7 | 193 | 0.0363 | 32 | c.189 others(51): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83801651 | A | AATATAAA others(25): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0182 | 1 | 133 | 0.0075 | 32 | c.318 others(49): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADARB1_chr21_45069580_45231560 | 45229846 | A | AACACACA others(25): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0002 | a0001c0002t0069 | a0001c0002t0069g0234 | 1 | 348 | 0.0029 | 32 | c.*76 others(43): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 3287 | chr21 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1514178 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0078 a0001c0001t0019g0038 |
2 | 11 | 0.1818 | 32 | c.101 others(53): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1544956 | T | TATACACA others(25): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0002 | a0002c0002t0046 | a0002c0002t0046g0056 | 1 | 10 | 0.1000 | 32 | c.101 others(53): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1608774 | G | GAGAAAGA others(25): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02622.hp2 NA18522.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0029a0001c0003t0045others(2): Show | a0001c0001t0001g0045 a0001c0001t0029g0031 a0001c0003t0045g0057 others(2): Show |
5 | 60 | 0.0833 | 32 | c.100 others(53): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADAT1_chr16_75591868_75628281 | 75624114 | C | CACATATA others(25): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0004 | a0004c0005 | a0004c0005t0025 | a0004c0005t0025g0103 | 1 | 333 | 0.0030 | 32 | c.-17 others(43): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 834 | chr16 | TogoVar | |||||||
ADAT1_chr16_75591868_75628281 | 75624133 | A | ATATATAT others(25): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 | a0003 | a0003c0003 | a0003c0003t0019 | a0003c0003t0019g0131 | 1 | 68 | 0.0147 | 32 | c.-17 others(43): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 853 | chr16 | TogoVar | |||||||
ADAT2_chr6_143417832_143455695 | 143427096 | A | AACACACA others(25): Show |
3_prime_UTR_variant | MODIFIER | NA18942.hp2 NA18952.hp1 NA19006.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0055a0001c0001t0059a0001c0001t0060others(2): Show | a0001c0001t0055g0108 a0001c0001t0059g0110 a0001c0001t0060g0111 others(2): Show |
5 | 26 | 0.1923 | 32 | c.*13 others(43): Show |
ADAT2 | ENSG00000189007.16 | transcript | ENST00000237283.9 | protein_coding | 6/6 | 1366 | chr6 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77816881 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01109.hp1 HG01258.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0002 | a0001c0001t0002g0202 a0001c0001t0002g0208 a0001c0001t0002g0222 others(1): Show |
4 | 125 | 0.0320 | 32 | c.-11 others(49): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77852907 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03209.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0001 | a0001c0001t0006g0166 a0001c0002t0001g0016 |
2 | 164 | 0.0122 | 32 | c.220 others(49): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77852907 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0075 | 1 | 163 | 0.0061 | 32 | c.220 others(49): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADCY1_chr7_45569368_45728116 | 45641932 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0240 | 1 | 20 | 0.0500 | 32 | c.102 others(51): Show |
ADCY1 | ENSG00000164742.16 | transcript | ENST00000297323.12 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ADCY2_chr5_7391138_7835081 | 7557201 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 | 1 | 114 | 0.0088 | 32 | c.570 others(51): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 3/24 | chr5 | TogoVar | |||||||
ADCY2_chr5_7391138_7835081 | 7561568 | T | TTTTTGTT others(25): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02647.hp1 HG02976.hp2 others(3): Show |
a0001a0002 | a0001c0005a0001c0013a0001c0014others(2): Show | a0001c0005t0001a0001c0013t0001a0001c0014t0019others(2): Show | a0001c0005t0001g0117 a0001c0013t0001g0078 a0001c0014t0019g0139 others(3): Show |
6 | 118 | 0.0508 | 32 | c.570 others(51): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADCY2_chr5_7391138_7835081 | 7561568 | T | TTTTTTTT others(25): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02615.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0015others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(7): Show | a0001c0001t0001g0111 a0001c0001t0001g0131 a0001c0001t0003g0107 others(9): Show |
12 | 124 | 0.0968 | 32 | c.570 others(51): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADCY2_chr5_7391138_7835081 | 7673269 | A | AAAAAATA others(25): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0009 | 1 | 7 | 0.1429 | 32 | c.721 others(51): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADCY2_chr5_7391138_7835081 | 7757568 | G | GATGGCCG others(25): Show |
splice_region_variant others(1): Show |
LOW | HG00323.hp2 HG00597.hp2 HG00639.hp1 others(77): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0005a0001c0006others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0034 others(77): Show |
80 | 137 | 0.5839 | 32 | c.209 others(45): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADCY2_chr5_7391138_7835081 | 7757568 | G | GATGGCCG others(25): Show |
frameshift_variant others(1): Show |
HIGH | HG02451.hp2 | a0005 | a0005c0023 | a0005c0023t0001 | a0005c0023t0001g0054 | 1 | 58 | 0.0172 | 32 | c.209 others(41): Show |
p.Met others(5): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 16/25 | 2251/6645 | 2092/3276 | 698/1091 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
ADCY2_chr5_7391138_7835081 | 7757638 | C | CGTGTTCA others(25): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02818.hp1 HG02896.hp2 others(2): Show |
a0002 | a0002c0008 | a0002c0008t0001a0002c0008t0009 | a0002c0008t0001g0088 a0002c0008t0001g0118 a0002c0008t0009g0030 others(2): Show |
5 | 138 | 0.0362 | 32 | c.209 others(47): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADCY2_chr5_7391138_7835081 | 7804040 | A | AAGAGAGA others(25): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 55 | 0.0182 | 32 | c.277 others(49): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADCY2_chr5_7391138_7835081 | 7833284 | C | CACATGCA others(25): Show |
downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0014 | a0001c0014t0019 | a0001c0014t0019g0139 | 1 | 138 | 0.0072 | 32 | c.*64 others(43): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 3204 | chr5 | TogoVar | |||||||
ADCY5_chr3_123277296_123454090 | 123310103 | T | TACACACA others(25): Show |
intron_variant | MODIFIER | NA19000.hp1 NA19080.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 a0001c0001t0001g0204 |
2 | 38 | 0.0526 | 32 | c.244 others(51): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 12/20 | chr3 | TogoVar | |||||||
ADCY5_chr3_123277296_123454090 | 123345765 | G | GACACACA others(25): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0164 a0001c0001t0008g0093 |
2 | 109 | 0.0183 | 32 | c.140 others(51): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
ADCY5_chr3_123277296_123454090 | 123345765 | G | GACACACA others(25): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03453.hp1 |
a0001 | a0001c0003 | a0001c0003t0007a0001c0003t0018 | a0001c0003t0007g0186 a0001c0003t0018g0021 |
2 | 109 | 0.0183 | 32 | c.140 others(51): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
ADCY5_chr3_123277296_123454090 | 123345769 | G | GACAGACA others(25): Show |
intron_variant | MODIFIER | HG03834.hp1 NA19043.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0029 | a0001c0001t0002g0010 a0001c0005t0029g0090 |
2 | 4 | 0.5000 | 32 | c.140 others(51): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
ADCY5_chr3_123277296_123454090 | 123348036 | A | AGTGTGTG others(25): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 6 | 0.1667 | 32 | c.128 others(49): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 2/20 | chr3 | TogoVar | |||||||
ADCY5_chr3_123277296_123454090 | 123359331 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | HG02818.hp1 NA18946.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0051 a0001c0001t0006g0039 |
2 | 18 | 0.1111 | 32 | c.113 others(51): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
ADCY5_chr3_123277296_123454090 | 123396013 | A | AGAGAGAG others(25): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0096 | 1 | 241 | 0.0041 | 32 | c.113 others(53): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 1/20 | chr3 | TogoVar |