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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS9_chr3_64510654_64693000 | 64517416 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00642.hp2 HG02055.hp1 others(2): Show |
a0001a0009 | a0001c0001a0009c0047 | a0001c0001t0001a0009c0047t0001 | a0001c0001t0001g0164 a0001c0001t0001g0199 a0001c0001t0001g0203 others(2): Show |
5 | 17 | 0.2941 | 20 | c.*6- others(33): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 39/39 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64692855 | T | TACACACA others(13): Show |
upstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0020 | a0001c0020t0002 | a0001c0020t0002g0258 | 1 | 87 | 0.0115 | 20 | c.-51 others(31): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 4856 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64692888 | A | ACACACAC others(13): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0117 | 1 | 214 | 0.0047 | 20 | c.-52 others(31): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 4889 | chr3 | TogoVar | |||||||
ADAMTSL1_chr9_18469153_18915950 | 18503421 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0022 | 1 | 110 | 0.0091 | 20 | c.64- others(35): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18503421 | G | GTGTATAT others(13): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02451.hp2 HG04199.hp2 others(1): Show |
a0001a0002a0005others(1): Show | a0001c0007a0002c0016a0005c0022others(1): Show | a0001c0007t0001a0002c0016t0002a0005c0022t0001others(1): Show | a0001c0007t0001g0170 a0002c0016t0002g0163 a0005c0022t0001g0169 others(1): Show |
4 | 113 | 0.0354 | 20 | c.64- others(35): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18688689 | A | AAAATATA others(13): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0081 | 1 | 33 | 0.0303 | 20 | c.157 others(39): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18703701 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00621.hp2 HG01257.hp2 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0007a0001c0008others(4): Show | a0001c0002t0030a0001c0007t0001a0001c0007t0031others(6): Show | a0001c0002t0030g0083 a0001c0007t0001g0172 a0001c0007t0031g0140 others(7): Show |
10 | 24 | 0.4167 | 20 | c.157 others(39): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18752090 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0046 | 1 | 178 | 0.0056 | 20 | c.200 others(39): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18756076 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02135.hp1 HG02451.hp1 others(2): Show |
a0001a0002a0005others(1): Show | a0001c0008a0001c0055a0002c0001others(2): Show | a0001c0008t0002a0001c0055t0002a0002c0001t0001others(2): Show | a0001c0008t0002g0070 a0001c0055t0002g0209 a0002c0001t0001g0160 others(2): Show |
5 | 14 | 0.3571 | 20 | c.221 others(39): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 16/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18853889 | C | CTCTCTGT others(13): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0057 | a0001c0057t0002 | a0001c0057t0002g0001 | 1 | 100 | 0.0100 | 20 | c.424 others(41): 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(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG02698.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0006others(1): Show | a0001c0002t0001a0001c0003t0015a0001c0003t0029others(2): Show | a0001c0002t0001g0052 a0001c0003t0015g0188 a0001c0003t0029g0025 others(2): Show |
5 | 107 | 0.0467 | 20 | c.424 others(41): 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(13): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0002 | a0002c0043 | a0002c0043t0002 | a0002c0043t0002g0159 | 1 | 52 | 0.0192 | 20 | c.425 others(41): 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(13): Show |
intron_variant | MODIFIER | NA18949.hp1 NA18988.hp1 NA18992.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0002a0001c0003t0002a0001c0005t0002 | a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0003t0002g0116 others(1): Show |
4 | 56 | 0.0714 | 20 | c.425 others(41): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18886166 | G | GTATGTAT others(13): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0193 | 1 | 138 | 0.0072 | 20 | c.425 others(39): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83674718 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00621.hp2 others(32): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0002c0039others(8): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0004others(9): Show | a0001c0001t0001g0120 a0001c0001t0001g0265 a0002c0002t0001g0255 others(32): Show |
35 | 271 | 0.1292 | 20 | c.69+ others(37): 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(13): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0005 | a0005c0017 | a0005c0017t0001 | a0005c0017t0001g0186 | 1 | 257 | 0.0039 | 20 | c.189 others(39): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83800101 | T | TTAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02723.hp1 HG02896.hp1 |
a0002 | a0002c0002a0002c0020 | a0002c0002t0001a0002c0020t0001 | a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0020t0001g0164 |
3 | 272 | 0.0110 | 20 | c.318 others(37): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 4/29 | chr15 | TogoVar | |||||||
ADAMTSL3_chr15_83649123_84044842 | 83801651 | A | AATATAAA others(13): Show |
intron_variant | MODIFIER | NA18985.hp1 NA19000.hp1 |
a0018a0043 | a0018c0043a0043c0044 | a0018c0043t0001a0043c0044t0002 | a0018c0043t0001g0110 a0043c0044t0002g0109 |
2 | 134 | 0.0149 | 20 | c.318 others(37): 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(13): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01261.hp2 HG02615.hp1 others(2): Show |
a0002a0008a0014others(1): Show | a0002c0002a0008c0010a0014c0059others(1): Show | a0002c0002t0001a0008c0010t0001a0014c0059t0001others(1): Show | a0002c0002t0001g0180 a0002c0002t0001g0200 a0008c0010t0001g0169 others(2): Show |
5 | 137 | 0.0365 | 20 | c.318 others(37): 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(13): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03669.hp2 NA20752.hp2 others(1): Show |
a0002a0006 | a0002c0008a0006c0005 | a0002c0008t0001a0006c0005t0002 | a0002c0008t0001g0161 a0006c0005t0002g0015 a0006c0005t0002g0016 others(1): Show |
4 | 60 | 0.0667 | 20 | c.960 others(37): 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(13): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02970.hp2 HG06807.hp2 |
a0010a0030a0035 | a0010c0012a0030c0062a0035c0065 | a0010c0012t0001a0030c0062t0001a0035c0065t0008 | a0010c0012t0001g0038 a0030c0062t0001g0037 a0035c0065t0008g0036 |
3 | 59 | 0.0508 | 20 | c.960 others(37): 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(13): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01256.hp2 HG01258.hp2 others(2): Show |
a0008a0009a0010 | a0008c0011a0009c0009a0010c0012 | a0008c0011t0001a0009c0009t0001a0010c0012t0001 | a0008c0011t0001g0005 a0008c0011t0001g0029 a0009c0009t0001g0008 others(2): Show |
5 | 61 | 0.0820 | 20 | c.960 others(37): 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(13): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0006 | a0006c0005 | a0006c0005t0002 | a0006c0005t0002g0018 | 1 | 107 | 0.0093 | 20 | c.198 others(39): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 16/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAP1_chr7_892900_959680 | 900659 | A | AGGGCTGG others(13): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 12 | 0.0833 | 20 | c.649 others(33): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 6/10 | chr7 | TogoVar | |||||||
ADAP1_chr7_892900_959680 | 900661 | C | CGCTGGGG others(13): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0011 | 1 | 3 | 0.3333 | 20 | c.649 others(33): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 6/10 | chr7 | TogoVar | |||||||
ADARB1_chr21_45069580_45231560 | 45191880 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0060 | a0001c0002t0060g0033 | 1 | 320 | 0.0031 | 20 | c.156 others(39): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1228038 | G | GAAAATCT others(13): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0099 | 1 | 106 | 0.0094 | 20 | c.151 others(39): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 6/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1237996 | C | CTCTCCCT others(13): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0013 | 1 | 106 | 0.0094 | 20 | c.136 others(39): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1444281 | A | ACATCCAT others(13): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0006 | a0006c0009 | a0006c0009t0024 | a0006c0009t0024g0016 | 1 | 54 | 0.0185 | 20 | c.101 others(39): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1510110 | C | CTCTTTCT others(13): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0075 | 1 | 26 | 0.0385 | 20 | c.101 others(41): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1510110 | C | CTCTTTCT others(13): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02055.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0015a0002c0002t0002 | a0001c0001t0015g0005 a0002c0002t0002g0043 |
2 | 27 | 0.0741 | 20 | c.101 others(41): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1514178 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG01433.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0007a0002c0002t0027 | a0001c0001t0003g0097 a0002c0002t0007g0001 a0002c0002t0027g0021 |
3 | 12 | 0.2500 | 20 | c.101 others(41): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1544956 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0039 | 1 | 10 | 0.1000 | 20 | c.101 others(41): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1544956 | T | TATACACA others(13): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01243.hp2 HG01433.hp2 others(11): Show |
a0001a0002a0010 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0003a0001c0001t0012a0001c0001t0019others(11): Show | a0001c0001t0003g0097 a0001c0001t0012g0024 a0001c0001t0019g0038 others(11): Show |
14 | 23 | 0.6087 | 20 | c.101 others(41): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1562155 | T | TCACCCCG others(13): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02886.hp2 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019a0001c0001t0030others(1): Show | a0001c0001t0001g0065 a0001c0001t0019g0038 a0001c0001t0030g0034 others(1): Show |
4 | 106 | 0.0377 | 20 | c.100 others(41): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1608774 | G | GAGAAAGA others(13): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02257.hp1 HG03017.hp2 others(1): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0002c0016others(1): Show | a0001c0001t0013a0002c0002t0008a0002c0016t0006others(1): Show | a0001c0001t0013g0007 a0002c0002t0008g0047 a0002c0016t0006g0010 others(1): Show |
4 | 59 | 0.0678 | 20 | c.100 others(41): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADAT1_chr16_75591868_75628281 | 75624133 | A | ATATATAT others(13): Show |
upstream_gene_variant | MODIFIER | HG02300.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0011 | 1 | 68 | 0.0147 | 20 | c.-17 others(31): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 853 | chr16 | TogoVar | |||||||
ADAT1_chr16_75591868_75628281 | 75624133 | A | ATATATAT others(13): Show |
upstream_gene_variant | MODIFIER | NA18986.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0192 | 1 | 68 | 0.0147 | 20 | c.-17 others(31): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 853 | chr16 | TogoVar | |||||||
ADAT2_chr6_143417832_143455695 | 143425733 | T | TTGTGTGT others(13): Show |
3_prime_UTR_variant | MODIFIER | HG01243.hp1 HG02148.hp1 HG02818.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0033a0001c0001t0052others(2): Show | a0001c0001t0019g0016 a0001c0001t0019g0098 a0001c0001t0033g0133 others(5): Show |
9 | 29 | 0.3103 | 20 | c.*27 others(31): Show |
ADAT2 | ENSG00000189007.16 | transcript | ENST00000237283.9 | protein_coding | 6/6 | 2729 | chr6 | TogoVar | ||||||
ADAT2_chr6_143417832_143455695 | 143427096 | A | AACACACA others(13): Show |
3_prime_UTR_variant | MODIFIER | HG02809.hp2 HG03669.hp2 NA18957.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0032a0001c0001t0033a0001c0001t0056others(1): Show | a0001c0001t0032g0018 a0001c0001t0033g0133 a0001c0001t0033g0135 others(2): Show |
6 | 27 | 0.2222 | 20 | c.*13 others(31): Show |
ADAT2 | ENSG00000189007.16 | transcript | ENST00000237283.9 | protein_coding | 6/6 | 1366 | chr6 | TogoVar | ||||||
ADAT2_chr6_143417832_143455695 | 143455171 | A | ATTTTCTT others(13): Show |
upstream_gene_variant | MODIFIER | HG02886.hp1 HG03130.hp2 HG03471.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0054a0001c0001t0098a0001c0001t0101others(2): Show | a0001c0001t0054g0070 a0001c0001t0098g0246 a0001c0001t0101g0037 others(2): Show |
5 | 88 | 0.0568 | 20 | c.-45 others(31): Show |
ADAT2 | ENSG00000189007.16 | transcript | ENST00000237283.9 | protein_coding | 4477 | chr6 | TogoVar | |||||||
ADAT3_chr19_1900399_1918447 | 1906866 | T | TGGTGTGT others(13): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01346.hp1 HG01952.hp2 others(12): Show |
a0001 | a0001c0003a0001c0010 | a0001c0003t0002a0001c0010t0002 | a0001c0003t0002g0007 a0001c0003t0002g0096 a0001c0010t0002g0097 |
15 | 148 | 0.1014 | 20 | c.-15 others(39): Show |
ADAT3 | ENSG00000213638.6 | transcript | ENST00000329478.4 | protein_coding | 1/1 | chr19 | TogoVar | |||||||
ADAT3_chr19_1900399_1918447 | 1906866 | T | TTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG00738.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0020 a0001c0002t0001g0006 a0001c0002t0001g0021 others(10): Show |
33 | 166 | 0.1988 | 20 | c.-15 others(39): Show |
ADAT3 | ENSG00000213638.6 | transcript | ENST00000329478.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ADAT3_chr19_1900399_1918447 | 1906888 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0065 | 1 | 440 | 0.0023 | 20 | c.-15 others(39): 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(13): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01106.hp1 HG02027.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0002a0001c0001t0007a0001c0002t0001others(1): Show | a0001c0001t0002g0204 a0001c0001t0002g0266 a0001c0001t0007g0265 others(3): Show |
6 | 127 | 0.0472 | 20 | c.-11 others(37): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77852656 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 250 | 0.0040 | 20 | c.220 others(37): 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(13): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01257.hp1 HG02074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0103 a0001c0001t0001g0238 a0001c0001t0003g0229 |
3 | 118 | 0.0254 | 20 | c.220 others(37): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77852883 | G | GTGTATAT others(13): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01168.hp1 HG02071.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0279 a0001c0001t0002g0201 a0001c0001t0002g0257 others(1): Show |
4 | 119 | 0.0336 | 20 | c.220 others(37): 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(13): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0023 | 1 | 163 | 0.0061 | 20 | c.220 others(37): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77894736 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | NA19084.hp2 NA20300.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0007t0002 | a0001c0001t0002g0192 a0001c0007t0002g0203 |
2 | 65 | 0.0308 | 20 | c.583 others(37): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |