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 | 43409601 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02647.hp2 others(5): Show |
a0001a0004a0012 | a0001c0002a0004c0007a0012c0029 | a0001c0002t0001a0001c0002t0002a0004c0007t0001others(1): Show | a0001c0002t0001g0212 a0001c0002t0002g0294 a0001c0002t0002g0297 others(5): Show |
8 | 29 | 0.2759 | 13 | c.428 others(34): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43420800 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG01070.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0017 a0001c0001t0001g0097 a0001c0001t0001g0158 others(12): Show |
15 | 31 | 0.4839 | 13 | c.428 others(32): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179134839 | C | CCCAGCTC others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00558.hp2 others(55): Show |
a0001a0002a0003others(8): Show | a0001c0050a0002c0005a0002c0010others(22): Show | a0001c0050t0001a0002c0005t0003a0002c0005t0009others(30): Show | a0001c0050t0001g0175 a0002c0005t0003g0222 a0002c0005t0003g0229 others(55): Show |
58 | 274 | 0.2117 | 13 | c.208 others(32): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 13/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179140799 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02809.hp2 HG02895.hp1 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0065a0002c0039a0002c0112others(5): Show | a0001c0065t0002a0002c0039t0007a0002c0112t0001others(6): Show | a0001c0065t0002g0118 a0002c0039t0007g0210 a0002c0112t0001g0206 others(7): Show |
10 | 85 | 0.1176 | 13 | c.163 others(30): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 10/21 | chr5 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72530060 | T | TATAATAT others(6): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02451.hp1 HG02647.hp1 others(8): Show |
a0001a0003a0007 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(3): Show | a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0029 others(8): Show |
11 | 180 | 0.0611 | 13 | c.504 others(32): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65175543 | C | CTGAGGAC others(6): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02451.hp2 HG02630.hp1 others(3): Show |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0002a0007c0007t0002 | a0001c0001t0002g0078 a0001c0001t0002g0170 a0001c0001t0002g0171 others(3): Show |
6 | 202 | 0.0297 | 13 | c.291 others(32): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 22/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65275411 | G | GAAAGAAA others(6): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 200 | 0.0050 | 13 | c.151 others(32): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 11/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65319743 | A | AGGAAGGG others(6): Show |
intron_variant | MODIFIER | HG03017.hp2 NA18942.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0056 a0001c0003t0001g0051 |
2 | 202 | 0.0099 | 13 | c.122 others(32): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 9/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65398792 | G | GAAAGAAA others(6): Show |
intron_variant | MODIFIER | HG03669.hp2 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 a0001c0001t0001g0113 |
2 | 202 | 0.0099 | 13 | c.107 others(34): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 7/24 | chr5 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64535554 | T | TTTCTTTT others(6): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0059 | 1 | 284 | 0.0035 | 13 | c.561 others(32): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 37/39 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64643445 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG01106.hp1 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0017others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0218 others(9): Show |
13 | 57 | 0.2281 | 13 | c.171 others(32): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 11/39 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64681968 | A | AAGCTGGC others(6): Show |
intron_variant | MODIFIER | NA19004.hp1 NA19010.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0143 a0002c0002t0003g0142 |
2 | 284 | 0.0070 | 13 | c.517 others(28): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 2/39 | chr3 | TogoVar | |||||||
ADAMTSL1_chr9_18469153_18915950 | 18688677 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0080 | a0001c0080t0002 | a0001c0080t0002g0004 | 1 | 211 | 0.0047 | 13 | c.157 others(32): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | chr9 | TogoVar | |||||||
ADAMTSL1_chr9_18469153_18915950 | 18688689 | A | AAAAATAT others(6): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0134 | 1 | 33 | 0.0303 | 13 | c.157 others(32): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18688689 | A | AAATATAT others(6): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0007 | a0007c0059 | a0007c0059t0013 | a0007c0059t0013g0019 | 1 | 33 | 0.0303 | 13 | c.157 others(32): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18688689 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0055 | a0001c0055t0002 | a0001c0055t0002g0209 | 1 | 33 | 0.0303 | 13 | c.157 others(32): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | chr9 | TogoVar | |||||||
ADAMTSL1_chr9_18469153_18915950 | 18735746 | T | TTTCTTTT others(6): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02135.hp2 HG03516.hp2 others(3): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0005a0002c0001others(3): Show | a0001c0002t0001a0001c0005t0003a0002c0001t0001others(3): Show | a0001c0002t0001g0090 a0001c0005t0003g0011 a0002c0001t0001g0193 others(3): Show |
6 | 216 | 0.0278 | 13 | c.200 others(34): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18752090 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01167.hp2 HG01168.hp1 others(8): Show |
a0001a0002 | a0001c0002a0001c0006a0001c0007others(5): Show | a0001c0002t0001a0001c0006t0002a0001c0007t0001others(8): Show | a0001c0002t0001g0052 a0001c0006t0002g0051 a0001c0007t0001g0170 others(8): Show |
11 | 188 | 0.0585 | 13 | c.200 others(32): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18828660 | T | TTTATATA others(6): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00621.hp1 others(28): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0003a0001c0005others(19): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(28): Show | a0001c0002t0001g0077 a0001c0002t0002g0128 a0001c0002t0004g0091 others(28): Show |
31 | 94 | 0.3298 | 13 | c.411 others(32): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18866116 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01516.hp1 HG01517.hp2 others(7): Show |
a0001a0002a0021 | a0001c0002a0001c0003a0001c0005others(4): Show | a0001c0002t0003a0001c0003t0013a0001c0005t0003others(6): Show | a0001c0002t0003g0156 a0001c0003t0013g0212 a0001c0005t0003g0011 others(7): Show |
10 | 61 | 0.1639 | 13 | c.425 others(34): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL2_chr9_133529704_133580519 | 133552826 | T | TTTAGGTC others(6): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0015 | a0001c0015t0002 | a0001c0015t0002g0148 | 1 | 150 | 0.0067 | 13 | c.940 others(30): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL2_chr9_133529704_133580519 | 133564640 | G | GGGAGAGA others(6): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0092 | 1 | 146 | 0.0068 | 13 | c.174 others(32): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83872598 | C | CACACACA others(6): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0030 | 1 | 235 | 0.0043 | 13 | c.960 others(30): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 9/29 | chr15 | TogoVar | |||||||
ADAP1_chr7_892900_959680 | 905703 | A | AGAAAGGA others(6): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 11 | 0.0909 | 13 | c.389 others(28): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 4/10 | chr7 | TogoVar | |||||||
ADAP1_chr7_892900_959680 | 906457 | G | GGAAAGGG others(6): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0011 | 1 | 9 | 0.1111 | 13 | c.389 others(30): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 4/10 | chr7 | TogoVar | |||||||
ADAP1_chr7_892900_959680 | 915229 | A | ACCTGCAC others(6): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01346.hp2 HG01993.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(8): Show |
11 | 12 | 0.9167 | 13 | c.388 others(30): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 4/10 | chr7 | TogoVar | |||||||
ADAP2_chr17_30916945_30964322 | 30917021 | C | CAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02258.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(1): Show | a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 others(6): Show |
10 | 218 | 0.0459 | 13 | c.-49 others(24): Show |
ADAP2 | ENSG00000184060.11 | transcript | ENST00000330889.8 | protein_coding | 4923 | chr17 | TogoVar | |||||||
ADARB1_chr21_45069580_45231560 | 45156915 | T | TCATACTT others(6): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0010 | a0001c0010t0116 | a0001c0010t0116g0224 | 1 | 348 | 0.0029 | 13 | c.-47 others(32): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 2/10 | chr21 | TogoVar | |||||||
ADARB1_chr21_45069580_45231560 | 45191881 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0004 | a0001c0004t0026 | a0001c0004t0026g0103 | 1 | 342 | 0.0029 | 13 | c.156 others(32): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 8/10 | chr21 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1376856 | T | TGGTGGGG others(6): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0002 | a0002c0002 | a0002c0002t0042 | a0002c0002t0042g0061 | 1 | 106 | 0.0094 | 13 | c.187 others(30): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 2/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1415494 | G | GCGGTCAA others(6): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(47): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(7): Show | a0001c0001t0003a0001c0001t0009a0001c0001t0010others(36): Show | a0001c0001t0003g0085 a0001c0001t0003g0094 a0001c0001t0003g0102 others(47): Show |
50 | 100 | 0.5000 | 13 | c.101 others(32): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1493729 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0002 | a0002c0016 | a0002c0016t0006 | a0002c0016t0006g0010 | 1 | 3 | 0.3333 | 13 | c.101 others(34): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADAR_chr1_154577057_154613186 | 154610808 | C | CAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG02129.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 1 | 234 | 0.0043 | 13 | c.-28 others(24): Show |
ADAR | ENSG00000160710.18 | transcript | ENST00000368474.9 | protein_coding | 2623 | chr1 | TogoVar | |||||||
ADAT1_chr16_75591868_75628281 | 75604456 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0220 | 1 | 274 | 0.0036 | 13 | c.129 others(32): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 8/9 | chr16 | TogoVar | |||||||
ADAT1_chr16_75591868_75628281 | 75604456 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03471.hp2 HG03486.hp2 |
a0004 | a0004c0005 | a0004c0005t0012a0004c0005t0049 | a0004c0005t0012g0107 a0004c0005t0049g0106 |
2 | 275 | 0.0073 | 13 | c.129 others(32): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 8/9 | chr16 | TogoVar | |||||||
ADAT1_chr16_75591868_75628281 | 75624133 | A | ATATATAT others(6): Show |
upstream_gene_variant | MODIFIER | HG02523.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0005 | 1 | 68 | 0.0147 | 13 | c.-17 others(24): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 853 | chr16 | TogoVar | |||||||
ADAT1_chr16_75591868_75628281 | 75624133 | A | ATATATAT others(6): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 | a0004 | a0004c0005 | a0004c0005t0012 | a0004c0005t0012g0111 | 1 | 68 | 0.0147 | 13 | c.-17 others(24): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 853 | chr16 | TogoVar | |||||||
ADAT1_chr16_75591868_75628281 | 75624133 | A | ATATATAT others(6): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0005 | a0005c0006 | a0005c0006t0011 | a0005c0006t0011g0117 | 1 | 68 | 0.0147 | 13 | c.-17 others(24): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 853 | chr16 | TogoVar | |||||||
ADAT1_chr16_75591868_75628281 | 75624134 | T | TATATATA others(6): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0025 | 1 | 325 | 0.0031 | 13 | c.-17 others(24): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 854 | chr16 | TogoVar | |||||||
ADAT2_chr6_143417832_143455695 | 143425733 | T | TGTGTGTG others(6): Show |
3_prime_UTR_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0147 | a0001c0001t0147g0186 | 1 | 21 | 0.0476 | 13 | c.*27 others(24): Show |
ADAT2 | ENSG00000189007.16 | transcript | ENST00000237283.9 | protein_coding | 6/6 | 2729 | chr6 | TogoVar | ||||||
ADAT3_chr19_1900399_1918447 | 1906865 | A | AATGGTGT others(6): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0089 | 1 | 428 | 0.0023 | 13 | c.-15 others(32): Show |
ADAT3 | ENSG00000213638.6 | transcript | ENST00000329478.4 | protein_coding | 1/1 | chr19 | TogoVar | |||||||
ADAT3_chr19_1900399_1918447 | 1914533 | A | AAAAGAGA others(6): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 440 | 0.0023 | 13 | c.*13 others(24): Show |
ADAT3 | ENSG00000213638.6 | transcript | ENST00000329478.4 | protein_coding | 1087 | chr19 | TogoVar | |||||||
ADCK1_chr14_77795109_77940014 | 77852908 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG01243.hp1 NA18955.hp2 NA19084.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0007t0002 | a0001c0001t0001g0123 a0001c0001t0002g0210 a0001c0007t0002g0203 |
3 | 274 | 0.0109 | 13 | c.220 others(30): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3/10 | chr14 | TogoVar | |||||||
ADCK1_chr14_77795109_77940014 | 77893737 | C | CTTCCTTC others(6): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01175.hp2 HG01257.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0016 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0096 others(21): Show |
24 | 266 | 0.0902 | 13 | c.583 others(30): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77894736 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01258.hp1 HG01516.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0097 a0001c0001t0001g0279 a0001c0001t0002g0177 others(5): Show |
8 | 71 | 0.1127 | 13 | c.583 others(30): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77905304 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01192.hp2 HG02622.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004a0001c0016 | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(1): Show | a0001c0001t0001g0094 a0001c0001t0002g0143 a0001c0004t0002g0036 others(2): Show |
5 | 125 | 0.0400 | 13 | c.742 others(30): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77921326 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02055.hp2 HG02257.hp1 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0006a0001c0001t0009others(1): Show | a0001c0001t0002g0102 a0001c0001t0002g0116 a0001c0001t0002g0230 others(4): Show |
7 | 69 | 0.1014 | 13 | c.859 others(30): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADCY10_chr1_167804386_167919134 | 167853830 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01496.hp1 HG02559.hp1 others(3): Show |
a0001a0002 | a0001c0005a0001c0014a0002c0007 | a0001c0005t0002a0001c0005t0003a0001c0005t0004others(2): Show | a0001c0005t0002g0234 a0001c0005t0002g0240 a0001c0005t0003g0208 others(3): Show |
6 | 105 | 0.0571 | 13 | c.230 others(30): Show |
ADCY10 | ENSG00000143199.18 | transcript | ENST00000367851.9 | protein_coding | 18/32 | chr1 | TogoVar | |||||||
ADCY10_chr1_167804386_167919134 | 167897997 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0038 | a0001c0038t0001 | a0001c0038t0001g0284 | 1 | 79 | 0.0127 | 13 | c.643 others(30): Show |
ADCY10 | ENSG00000143199.18 | transcript | ENST00000367851.9 | protein_coding | 6/32 | chr1 | TogoVar | |||||||
ADCY1_chr7_45569368_45728116 | 45641932 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0057 | 1 | 20 | 0.0500 | 13 | c.102 others(32): Show |
ADCY1 | ENSG00000164742.16 | transcript | ENST00000297323.12 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |