regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTSL1_chr9_18469153_18915950 | 18853918 | T | TGTGTGTG others(9): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0176 | 1 | 218 | 0.0046 | 16 | c.424 others(37): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18853918 | T | TGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00741.hp2 HG01433.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0007a0002c0001a0002c0053others(2): Show | a0001c0007t0001a0001c0007t0004a0002c0001t0001others(3): Show | a0001c0007t0001g0188a0001c0007t0004g0017a0002c0001t0001g0177others(4): Show | 7 | 218 | 0.0321 | 16 | c.424 others(37): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18866116 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01517.hp1 HG03704.hp1 HG03831.hp1 others(1): Show |
a0001a0002a0006 | a0001c0002a0001c0006a0002c0004others(1): Show | a0001c0002t0008a0001c0006t0002a0002c0004t0008others(1): Show | a0001c0002t0008g0089a0001c0006t0002g0062a0002c0004t0008g0091others(1): Show | 4 | 218 | 0.0184 | 16 | c.425 others(37): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18876301 | C | CGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01167.hp2 HG02109.hp2 others(8): Show |
a0001a0002a0008others(1): Show | a0001c0003a0001c0023a0001c0057others(5): Show | a0001c0003t0013a0001c0023t0001a0001c0057t0002others(7): Show | a0001c0003t0013g0212a0001c0023t0001g0175a0001c0057t0002g0001others(8): Show | 11 | 218 | 0.0505 | 16 | c.425 others(37): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18876329 | T | TGTGTGTG others(9): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0156 | 1 | 218 | 0.0046 | 16 | c.425 others(37): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83674770 | T | TATACACA others(9): Show |
intron_variant | MODIFIER | HG01496.hp2 HG01884.hp1 HG02109.hp2 others(14): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0015a0002c0008others(11): Show | a0001c0001t0001a0001c0015t0001a0002c0008t0001others(11): Show | a0001c0001t0001g0073a0001c0001t0001g0075a0001c0015t0001g0077others(14): Show | 17 | 274 | 0.0620 | 16 | c.69+ others(33): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83757422 | A | AGCTGAGT others(9): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG00639.hp2 others(35): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0015a0002c0008others(11): Show | a0001c0001t0001a0001c0015t0001a0002c0008t0001others(11): Show | a0001c0001t0001g0264a0001c0015t0001g0077a0002c0008t0001g0128others(35): Show | 38 | 274 | 0.1387 | 16 | c.190 others(35): 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(9): Show |
intron_variant | MODIFIER | HG02698.hp1 HG02965.hp2 HG03710.hp1 others(2): Show |
a0003a0004a0006 | a0003c0003a0004c0004a0006c0006 | a0003c0003t0001a0004c0004t0001a0006c0006t0001 | a0003c0003t0001g0144a0003c0003t0001g0147a0004c0004t0001g0238others(2): Show | 5 | 274 | 0.0183 | 16 | c.318 others(33): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83801651 | A | AATATAAA others(9): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01175.hp2 HG02027.hp2 others(6): Show |
a0002a0003a0006others(3): Show | a0002c0002a0002c0048a0003c0003others(4): Show | a0002c0002t0001a0002c0048t0001a0003c0003t0001others(4): Show | a0002c0002t0001g0093a0002c0002t0001g0142a0002c0002t0001g0153others(6): Show | 9 | 274 | 0.0329 | 16 | c.318 others(33): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83872627 | C | CACACACA others(9): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0012 | a0012c0031 | a0012c0031t0001 | a0012c0031t0001g0158 | 1 | 274 | 0.0037 | 16 | c.960 others(33): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83872627 | C | CACACACA others(9): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01069.hp2 HG01123.hp2 others(6): Show |
a0008a0009a0028others(2): Show | a0008c0010a0008c0011a0009c0009others(3): Show | a0008c0010t0001a0008c0011t0001a0009c0009t0001others(5): Show | a0008c0010t0001g0243a0008c0011t0001g0008a0009c0009t0001g0046others(6): Show | 9 | 274 | 0.0329 | 16 | c.960 others(33): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83917417 | G | GTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02135.hp2 HG03654.hp1 others(3): Show |
a0004a0005 | a0004c0004a0005c0005 | a0004c0004t0001a0005c0005t0002 | a0004c0004t0001g0195a0004c0004t0001g0248a0004c0004t0001g0250others(3): Show | 6 | 274 | 0.0219 | 16 | c.198 others(35): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 16/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 84019076 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0026 | a0026c0032 | a0026c0032t0001 | a0026c0032t0001g0091 | 1 | 274 | 0.0037 | 16 | c.427 others(35): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAP1_chr7_892900_959680 | 906762 | G | GGGGACAC others(9): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 14 | 0.0714 | 16 | c.389 others(33): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 4/10 | chr7 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1510110 | C | CTCTTTCT others(9): Show |
intron_variant | MODIFIER | HG02027.hp2 NA18983.hp1 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0055a0003c0006t0003 | a0001c0001t0055g0089a0003c0006t0003g0090 | 2 | 106 | 0.0189 | 16 | c.101 others(37): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1514178 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03041.hp1 NA18983.hp2 others(3): Show |
a0001a0002a0011 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0025a0001c0001t0050a0001c0003t0032others(3): Show | a0001c0001t0025g0036a0001c0001t0050g0077a0001c0003t0032g0071others(3): Show | 6 | 106 | 0.0566 | 16 | c.101 others(37): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1544956 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01433.hp1 HG01934.hp1 others(8): Show |
a0001a0002a0010others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0010a0001c0001t0057a0001c0001t0061others(7): Show | a0001c0001t0010g0013a0001c0001t0010g0025a0001c0001t0057g0103others(8): Show | 11 | 106 | 0.1038 | 16 | c.101 others(37): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1544956 | T | TATACACA others(9): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02040.hp1 HG02615.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0016 | a0001c0001t0001a0001c0001t0030a0002c0002t0007others(1): Show | a0001c0001t0001g0065a0001c0001t0001g0069a0001c0001t0030g0034others(2): Show | 5 | 106 | 0.0472 | 16 | c.101 others(37): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1557880 | G | GTTGCGGT others(9): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG01243.hp1 others(19): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(18): Show | a0001c0001t0001g0045a0001c0001t0001g0065a0001c0001t0003g0097others(19): Show | 22 | 106 | 0.2076 | 16 | c.101 others(37): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1608774 | G | GAGAAAGA others(9): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02040.hp2 HG02080.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0011a0002c0002t0004a0002c0002t0007others(4): Show | a0001c0001t0011g0017a0002c0002t0004g0082a0002c0002t0004g0101others(6): Show | 9 | 106 | 0.0849 | 16 | c.100 others(37): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1629908 | A | AGGGAGCG others(9): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0010 | a0010c0009 | a0010c0009t0024 | a0010c0009t0024g0016 | 1 | 106 | 0.0094 | 16 | c.100 others(37): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADAR_chr1_154577057_154613186 | 154582475 | A | AGGGGCAT others(9): Show |
3_prime_UTR_variant | MODIFIER | HG02040.hp1 HG02040.hp2 HG02523.hp2 |
a0001a0009 | a0001c0001a0009c0020 | a0001c0001t0010a0009c0020t0010 | a0001c0001t0010g0075a0001c0001t0010g0088a0009c0020t0010g0083 | 3 | 416 | 0.0072 | 16 | c.*23 others(27): Show |
ADAR | ENSG00000160710.18 | transcript | ENST00000368474.9 | protein_coding | 15/15 | 2330 | chr1 | TogoVar | |||||
ADAT1_chr16_75591868_75628281 | 75604474 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0314 | 1 | 348 | 0.0029 | 16 | c.129 others(35): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 8/9 | chr16 | TogoVar | ||||||
ADAT1_chr16_75591868_75628281 | 75604474 | T | TATACACA others(9): Show |
intron_variant | MODIFIER | NA18965.hp1 NA19006.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0066 | a0001c0001t0002g0286a0001c0001t0066g0266 | 2 | 348 | 0.0058 | 16 | c.129 others(35): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 8/9 | chr16 | TogoVar | ||||||
ADAT1_chr16_75591868_75628281 | 75622600 | G | GAGCATGC others(9): Show |
5_prime_UTR_variant | MODIFIER | NA18994.hp1 | a0002 | a0002c0002 | a0002c0002t0052 | a0002c0002t0052g0127 | 1 | 348 | 0.0029 | 16 | c.-23 others(25): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 1/10 | 1802 | chr16 | TogoVar | |||||
ADAT1_chr16_75591868_75628281 | 75624114 | C | CATATATA others(9): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 NA20805.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001a0002c0002t0001g0009 | 2 | 348 | 0.0058 | 16 | c.-17 others(27): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 834 | chr16 | TogoVar | ||||||
ADAT1_chr16_75591868_75628281 | 75624133 | A | ATATATAT others(9): Show |
upstream_gene_variant | MODIFIER | NA18959.hp1 | a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0013 | 1 | 348 | 0.0029 | 16 | c.-17 others(27): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 853 | chr16 | TogoVar | ||||||
ADAT1_chr16_75591868_75628281 | 75624133 | A | ATATATAT others(9): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00673.hp2 HG03669.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0052a0002c0002t0060 | a0002c0002t0001g0001a0002c0002t0001g0012a0002c0002t0001g0135others(3): Show | 6 | 348 | 0.0172 | 16 | c.-17 others(27): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 853 | chr16 | TogoVar | ||||||
ADAT1_chr16_75591868_75628281 | 75624133 | A | ATATATAT others(9): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 HG01952.hp2 HG01975.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0001a0002c0002t0013others(1): Show | a0001c0001t0005g0016a0002c0002t0001g0001a0002c0002t0001g0010others(9): Show | 14 | 348 | 0.0402 | 16 | c.-17 others(27): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 853 | chr16 | TogoVar | ||||||
ADAT1_chr16_75591868_75628281 | 75624133 | A | ATATATAT others(9): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 HG02293.hp1 NA18957.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0001 | a0001c0001t0005g0016a0002c0002t0001g0140a0002c0002t0001g0198 | 3 | 348 | 0.0086 | 16 | c.-17 others(27): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 853 | chr16 | TogoVar | ||||||
ADAT2_chr6_143417832_143455695 | 143425733 | T | TTGTGTGT others(9): Show |
3_prime_UTR_variant | MODIFIER | HG01071.hp2 HG01168.hp2 HG01361.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0017a0001c0001t0044a0001c0001t0061others(8): Show | a0001c0001t0017g0261a0001c0001t0017g0262a0001c0001t0017g0265others(12): Show | 16 | 322 | 0.0497 | 16 | c.*27 others(27): Show |
ADAT2 | ENSG00000189007.16 | transcript | ENST00000237283.9 | protein_coding | 6/6 | 2729 | chr6 | TogoVar | |||||
ADAT2_chr6_143417832_143455695 | 143427096 | A | AACACACA others(9): Show |
3_prime_UTR_variant | MODIFIER | HG02818.hp2 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0095a0001c0001t0170 | a0001c0001t0095g0102a0001c0001t0170g0253 | 2 | 322 | 0.0062 | 16 | c.*13 others(27): Show |
ADAT2 | ENSG00000189007.16 | transcript | ENST00000237283.9 | protein_coding | 6/6 | 1366 | chr6 | TogoVar | |||||
ADAT2_chr6_143417832_143455695 | 143442476 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01952.hp2 HG01978.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0115a0001c0001t0117others(1): Show | a0001c0001t0011g0006a0001c0001t0011g0057a0001c0001t0115g0055others(2): Show | 7 | 322 | 0.0217 | 16 | c.97- others(31): Show |
ADAT2 | ENSG00000189007.16 | transcript | ENST00000237283.9 | protein_coding | 1/5 | chr6 | TogoVar | ||||||
ADAT3_chr19_1900399_1918447 | 1906866 | T | TGGTGTGT others(9): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01167.hp1 HG01167.hp2 others(6): Show |
a0001 | a0001c0002a0001c0003a0001c0010 | a0001c0002t0002a0001c0003t0002a0001c0010t0002 | a0001c0002t0002g0091a0001c0003t0002g0015a0001c0003t0002g0038others(1): Show | 9 | 442 | 0.0204 | 16 | c.-15 others(35): Show |
ADAT3 | ENSG00000213638.6 | transcript | ENST00000329478.4 | protein_coding | 1/1 | chr19 | TogoVar | ||||||
ADAT3_chr19_1900399_1918447 | 1906866 | T | TTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG03139.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0004a0001c0002t0001a0001c0004t0001 | a0001c0001t0004g0103a0001c0001t0004g0104a0001c0002t0001g0011others(4): Show | 12 | 442 | 0.0272 | 16 | c.-15 others(35): Show |
ADAT3 | ENSG00000213638.6 | transcript | ENST00000329478.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ADCK1_chr14_77795109_77940014 | 77816881 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG01099.hp1 others(18): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0103a0001c0001t0001g0231a0001c0001t0001g0254others(18): Show | 21 | 286 | 0.0734 | 16 | c.-11 others(33): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ADCK1_chr14_77795109_77940014 | 77852652 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0001 | 1 | 286 | 0.0035 | 16 | c.220 others(33): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ADCK1_chr14_77795109_77940014 | 77852656 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0168 | 1 | 286 | 0.0035 | 16 | c.220 others(33): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ADCK1_chr14_77795109_77940014 | 77852660 | A | AATAAATA others(9): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0165 | 1 | 286 | 0.0035 | 16 | c.220 others(33): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ADCK1_chr14_77795109_77940014 | 77852660 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0192 | 1 | 286 | 0.0035 | 16 | c.220 others(33): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ADCK1_chr14_77795109_77940014 | 77852883 | G | GTATATAT others(9): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02040.hp1 HG02040.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0211a0001c0001t0001g0267a0001c0001t0001g0272others(4): Show | 7 | 286 | 0.0245 | 16 | c.220 others(33): 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(9): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 286 | 0.0035 | 16 | c.220 others(33): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ADCK1_chr14_77795109_77940014 | 77893736 | C | CCTTCCTT others(9): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01346.hp2 HG02257.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0155a0001c0001t0001g0157a0001c0001t0001g0162others(5): Show | 8 | 286 | 0.0280 | 16 | c.583 others(33): 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(9): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02040.hp1 HG02135.hp1 others(5): Show |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0001a0001c0001t0002a0005c0010t0001 | a0001c0001t0001g0098a0001c0001t0001g0211a0001c0001t0001g0249others(5): Show | 8 | 286 | 0.0280 | 16 | c.583 others(33): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ADCK1_chr14_77795109_77940014 | 77921326 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00438.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0155a0001c0001t0001g0157a0001c0001t0002g0039others(16): Show | 19 | 286 | 0.0664 | 16 | c.859 others(33): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ADCK1_chr14_77795109_77940014 | 77938169 | C | CAAAAAAA others(9): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 HG01070.hp2 HG01168.hp1 others(10): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0005a0001c0004t0002 | a0001c0001t0002g0009a0001c0001t0002g0022a0001c0001t0002g0031others(10): Show | 13 | 286 | 0.0455 | 16 | c.*47 others(27): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3156 | chr14 | TogoVar | ||||||
ADCK5_chr8_144369047_144398242 | 144392334 | T | TGGGGGTG others(9): Show |
splice_region_variant others(1): Show |
LOW | HG01255.hp2 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0124 | 1 | 346 | 0.0029 | 16 | c.125 others(27): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADCY10_chr1_167804386_167919134 | 167850697 | G | GTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02896.hp1 others(2): Show |
a0001a0002 | a0001c0004a0002c0001a0002c0047 | a0001c0004t0002a0002c0001t0002a0002c0047t0002 | a0001c0004t0002g0204a0001c0004t0002g0286a0002c0001t0002g0024others(2): Show | 5 | 326 | 0.0153 | 16 | c.230 others(35): Show |
ADCY10 | ENSG00000143199.18 | transcript | ENST00000367851.9 | protein_coding | 18/32 | chr1 | TogoVar | ||||||
ADCY10_chr1_167804386_167919134 | 167853830 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0047 | a0002c0047t0002 | a0002c0047t0002g0269 | 1 | 326 | 0.0031 | 16 | c.230 others(33): Show |
ADCY10 | ENSG00000143199.18 | transcript | ENST00000367851.9 | protein_coding | 18/32 | chr1 | TogoVar | ||||||
ADCY10_chr1_167804386_167919134 | 167897997 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01361.hp2 NA18966.hp1 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002 | a0001c0004t0001g0016a0001c0004t0002g0003 | 2 | 326 | 0.0061 | 16 | c.643 others(33): Show |
ADCY10 | ENSG00000143199.18 | transcript | ENST00000367851.9 | protein_coding | 6/32 | chr1 | TogoVar |