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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS6_chr5_65143738_65486920 | 65381048 | CATAATT | C | intron_variant | MODIFIER | HG01243.hp1 HG02559.hp2 HG02630.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(2): Show | a0001c0001t0001g0125a0001c0001t0001g0163a0001c0001t0002g0014others(7): Show | 10 | 204 | 0.0490 | -6 | c.107 others(27): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 7/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65381529 | ATTTTTT | A | intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG00735.hp1 others(32): Show |
a0001 | a0001c0001a0001c0008a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0007a0001c0001t0001g0026a0001c0001t0001g0035others(32): Show | 35 | 204 | 0.1716 | -6 | c.107 others(27): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 7/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65391419 | TACACAC | T | intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG00735.hp1 others(48): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0010others(48): Show | 51 | 204 | 0.2500 | -6 | c.107 others(27): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 7/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65443622 | CAAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG00735.hp1 others(39): Show |
a0001 | a0001c0001a0001c0008a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0007a0001c0001t0001g0026a0001c0001t0001g0035others(39): Show | 42 | 204 | 0.2059 | -6 | c.107 others(25): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 7/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65447661 | TGATACA | T | intron_variant | MODIFIER | HG02451.hp1 HG02976.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0071a0001c0002t0002g0023 | 2 | 204 | 0.0098 | -6 | c.107 others(25): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 7/24 | chr5 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64514901 | TCACACA | T | downstream_gene_variant | MODIFIER | HG01978.hp1 HG02040.hp2 HG02273.hp2 others(11): Show |
a0001a0007a0010others(4): Show | a0001c0001a0001c0051a0007c0011others(5): Show | a0001c0001t0002a0001c0051t0018a0007c0011t0004others(5): Show | a0001c0001t0002g0137a0001c0051t0018g0268a0007c0011t0004g0086others(11): Show | 14 | 286 | 0.0490 | -6 | c.*22 others(17): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 752 | chr3 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64529982 | ATTTTTT | A | intron_variant | MODIFIER | HG00735.hp1 HG01884.hp1 HG02027.hp2 others(9): Show |
a0001a0003a0012others(1): Show | a0001c0001a0001c0037a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0016a0001c0037t0008others(4): Show | a0001c0001t0001g0018a0001c0001t0001g0087a0001c0001t0001g0128others(9): Show | 12 | 286 | 0.0420 | -6 | c.571 others(25): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 38/39 | chr3 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64535552 | CTTTTTT | C | intron_variant | MODIFIER | HG01071.hp2 HG01099.hp1 HG01099.hp2 others(35): Show |
a0002a0004a0005others(4): Show | a0002c0002a0004c0005a0005c0008others(4): Show | a0002c0002t0003a0004c0005t0003a0004c0005t0015others(7): Show | a0002c0002t0003g0077a0002c0002t0003g0078a0002c0002t0003g0107others(35): Show | 38 | 286 | 0.1329 | -6 | c.561 others(25): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 37/39 | chr3 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64593960 | GATGTGT | G | intron_variant | MODIFIER | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(5): Show |
a0001a0009a0011 | a0001c0006a0001c0007a0009c0029others(1): Show | a0001c0006t0010a0001c0006t0011a0001c0007t0002others(3): Show | a0001c0006t0010g0003a0001c0006t0010g0007a0001c0006t0011g0008others(5): Show | 8 | 286 | 0.0280 | -6 | c.435 others(23): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 28/39 | chr3 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64621787 | AAAAAAT | A | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG02015.hp2 others(26): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0014a0001c0030others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0090a0001c0001t0001g0093a0001c0001t0001g0106others(26): Show | 29 | 286 | 0.1014 | -6 | c.268 others(23): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 18/39 | chr3 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64670133 | TGTCTCA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(166): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0004a0001c0006others(35): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0067others(165): Show | 169 | 286 | 0.5909 | -6 | c.679 others(25): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 3/39 | chr3 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64689107 | CGTGTGT | C | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00609.hp2 others(70): Show |
a0001a0002a0005others(10): Show | a0001c0001a0001c0006a0001c0009others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0158a0001c0001t0001g0159a0001c0001t0001g0167others(70): Show | 73 | 286 | 0.2552 | -6 | c.-14 others(17): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 1108 | chr3 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64692855 | TACACAC | T | upstream_gene_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG00738.hp2 others(37): Show |
a0003a0004a0010others(3): Show | a0003c0003a0003c0017a0003c0024others(7): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0007others(12): Show | a0003c0003t0001g0021a0003c0003t0001g0022a0003c0003t0001g0023others(37): Show | 40 | 286 | 0.1399 | -6 | c.-52 others(17): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 4856 | chr3 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18607572 | TTTATTA | T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(119): Show |
a0001a0002a0003others(13): Show | a0001c0002a0001c0003a0001c0005others(52): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(88): Show | a0001c0002t0001g0052a0001c0002t0002g0064a0001c0002t0002g0066others(119): Show | 122 | 218 | 0.5596 | -6 | c.475 others(25): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18608896 | TTATTCA | T | intron_variant | MODIFIER | HG00597.hp1 HG00733.hp1 HG01261.hp1 others(14): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0003a0001c0007others(10): Show | a0001c0002t0004a0001c0003t0003a0001c0007t0001others(13): Show | a0001c0002t0004g0085a0001c0003t0003g0015a0001c0007t0001g0170others(14): Show | 17 | 218 | 0.0780 | -6 | c.475 others(25): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18609356 | TACCAGA | T | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG00741.hp1 others(15): Show |
a0001a0002a0004others(4): Show | a0001c0002a0001c0003a0001c0005others(12): Show | a0001c0002t0003a0001c0003t0029a0001c0005t0003others(13): Show | a0001c0002t0003g0156a0001c0003t0029g0025a0001c0005t0003g0011others(15): Show | 18 | 218 | 0.0826 | -6 | c.475 others(25): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 4/28 | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18620015 | ATTTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG00741.hp1 others(7): Show |
a0001a0002a0004others(2): Show | a0001c0003a0001c0006a0001c0024others(6): Show | a0001c0003t0029a0001c0006t0001a0001c0024t0001others(6): Show | a0001c0003t0029g0025a0001c0006t0001g0039a0001c0024t0001g0137others(7): Show | 10 | 218 | 0.0459 | -6 | c.475 others(23): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18655806 | TAAAAAA | T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(76): Show |
a0001a0002a0003others(11): Show | a0001c0002a0001c0003a0001c0005others(36): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(59): Show | a0001c0002t0001g0052a0001c0002t0001g0076a0001c0002t0001g0092others(76): Show | 79 | 218 | 0.3624 | -6 | c.835 others(23): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18703701 | CATATAT | C | intron_variant | MODIFIER | HG02622.hp2 HG03139.hp1 NA18612.hp2 others(1): Show |
a0001a0012a0024 | a0001c0007a0001c0008a0012c0031others(1): Show | a0001c0007t0001a0001c0008t0002a0012c0031t0003others(1): Show | a0001c0007t0001g0176a0001c0008t0002g0035a0012c0031t0003g0005others(1): Show | 4 | 218 | 0.0184 | -6 | c.157 others(25): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18756076 | AATATAT | A | intron_variant | MODIFIER | HG01167.hp1 HG01175.hp1 HG02300.hp1 others(7): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0003a0001c0008others(5): Show | a0001c0002t0004a0001c0003t0002a0001c0003t0005others(7): Show | a0001c0002t0004g0063a0001c0003t0002g0116a0001c0003t0005g0211others(7): Show | 10 | 218 | 0.0459 | -6 | c.221 others(25): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 16/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18798983 | TTTTATC | T | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00558.hp1 others(19): Show |
a0001 | a0001c0002a0001c0005a0001c0010others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(12): Show | a0001c0002t0001g0052a0001c0002t0001g0092a0001c0002t0001g0125others(19): Show | 22 | 218 | 0.1009 | -6 | c.380 others(25): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 20/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18828697 | ATGTGTG | A | intron_variant | MODIFIER | HG02615.hp1 HG03195.hp2 HG03579.hp1 |
a0001a0025 | a0001c0056a0001c0080a0025c0033 | a0001c0056t0003a0001c0080t0002a0025c0033t0024 | a0001c0056t0003g0006a0001c0080t0002g0004a0025c0033t0024g0165 | 3 | 218 | 0.0138 | -6 | c.411 others(25): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18838360 | TACACAC | T | intron_variant | MODIFIER | HG01261.hp1 HG02723.hp1 HG03098.hp2 others(4): Show |
a0001a0002a0029 | a0001c0002a0001c0003a0001c0006others(2): Show | a0001c0002t0003a0001c0003t0013a0001c0006t0002others(4): Show | a0001c0002t0003g0156a0001c0003t0013g0212a0001c0006t0002g0154others(4): Show | 7 | 218 | 0.0321 | -6 | c.424 others(25): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18886164 | GTGTATA | G | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 HG01081.hp1 others(18): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0003a0001c0007others(10): Show | a0001c0002t0002a0001c0002t0030a0001c0003t0001others(15): Show | a0001c0002t0002g0128a0001c0002t0030g0083a0001c0003t0001g0146others(18): Show | 21 | 218 | 0.0963 | -6 | c.425 others(25): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL2_chr9_133529704_133580519 | 133533163 | CTGTGTG | C | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG02080.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0007a0001c0003t0001a0001c0003t0002others(5): Show | a0001c0001t0007g0112a0001c0003t0001g0140a0001c0003t0002g0141others(6): Show | 9 | 152 | 0.0592 | -6 | c.-19 others(17): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 1540 | chr9 | TogoVar | ||||||
ADAMTSL2_chr9_133529704_133580519 | 133549541 | CTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00609.hp2 others(36): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(11): Show | a0001c0001t0001g0025a0001c0001t0001g0043a0001c0001t0001g0052others(36): Show | 39 | 152 | 0.2566 | -6 | c.939 others(23): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL2_chr9_133529704_133580519 | 133563838 | AGAGAGG | A | intron_variant | MODIFIER | HG03492.hp1 HG03710.hp2 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0032a0001c0007t0001g0142 | 2 | 152 | 0.0132 | -6 | c.174 others(25): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL2_chr9_133529704_133580519 | 133564117 | GGGGAGA | G | intron_variant | MODIFIER | HG02451.hp1 HG02965.hp1 HG06807.hp1 |
a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0016a0002c0009t0001g0124a0002c0009t0001g0149 | 3 | 152 | 0.0197 | -6 | c.174 others(25): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL2_chr9_133529704_133580519 | 133564507 | AGAGAGG | A | intron_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG00597.hp2 others(26): Show |
a0001a0002a0006 | a0001c0003a0001c0005a0001c0010others(3): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(7): Show | a0001c0003t0001g0140a0001c0003t0002g0033a0001c0003t0002g0049others(26): Show | 29 | 152 | 0.1908 | -6 | c.174 others(25): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL2_chr9_133529704_133580519 | 133564635 | AGAGAGG | A | intron_variant | MODIFIER | HG00323.hp2 HG01071.hp2 HG01255.hp1 others(19): Show |
a0001a0003 | a0001c0006a0001c0007a0001c0008others(8): Show | a0001c0006t0001a0001c0006t0005a0001c0006t0006others(10): Show | a0001c0006t0001g0080a0001c0006t0001g0104a0001c0006t0001g0128others(19): Show | 22 | 152 | 0.1447 | -6 | c.174 others(25): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83688751 | TATATAC | T | intron_variant | MODIFIER | HG01346.hp1 HG02738.hp1 HG03041.hp1 |
a0002a0003 | a0002c0008a0003c0003 | a0002c0008t0001a0003c0003t0001 | a0002c0008t0001g0239a0002c0008t0001g0241a0003c0003t0001g0167 | 3 | 274 | 0.0110 | -6 | c.70- others(23): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83709974 | GTTAATA | G | intron_variant | MODIFIER | HG03453.hp1 HG03579.hp1 |
a0008a0012 | a0008c0010a0012c0031 | a0008c0010t0001a0012c0031t0001 | a0008c0010t0001g0056a0012c0031t0001g0158 | 2 | 274 | 0.0073 | -6 | c.189 others(23): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83714863 | TCCCTCC | T | intron_variant | MODIFIER | HG01516.hp1 HG01952.hp2 HG02015.hp2 others(11): Show |
a0002a0003a0006others(3): Show | a0002c0002a0002c0008a0003c0003others(5): Show | a0002c0002t0001a0002c0008t0001a0003c0003t0001others(6): Show | a0002c0002t0001g0052a0002c0002t0001g0054a0002c0002t0001g0117others(11): Show | 14 | 274 | 0.0511 | -6 | c.189 others(25): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83795263 | GCAACAA | G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(58): Show |
a0001a0002a0007others(6): Show | a0001c0001a0001c0015a0001c0057others(9): Show | a0001c0001t0001a0001c0001t0006a0001c0015t0001others(11): Show | a0001c0001t0001g0017a0001c0001t0001g0029a0001c0001t0001g0053others(58): Show | 61 | 274 | 0.2226 | -6 | c.318 others(23): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83801651 | AATATAT | A | intron_variant | MODIFIER | HG00438.hp1 NA18986.hp2 NA19081.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0174a0003c0003t0001g0121a0003c0003t0001g0176 | 3 | 274 | 0.0110 | -6 | c.318 others(23): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83823887 | TTCTTCC | T | intron_variant | MODIFIER | HG01243.hp1 HG02109.hp1 HG02572.hp1 others(6): Show |
a0002a0003a0017others(1): Show | a0002c0002a0002c0048a0003c0003others(2): Show | a0002c0002t0001a0002c0048t0001a0003c0003t0001others(2): Show | a0002c0002t0001g0052a0002c0002t0001g0054a0002c0002t0001g0112others(6): Show | 9 | 274 | 0.0329 | -6 | c.600 others(23): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83823893 | CTCTTCT | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00733.hp1 others(7): Show |
a0002a0006a0009others(3): Show | a0002c0008a0006c0006a0009c0009others(3): Show | a0002c0008t0001a0006c0006t0001a0009c0009t0001others(3): Show | a0002c0008t0001g0128a0002c0008t0001g0129a0006c0006t0001g0082others(7): Show | 10 | 274 | 0.0365 | -6 | c.600 others(23): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83837877 | CTTAATA | C | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02257.hp2 others(5): Show |
a0001a0002a0007others(2): Show | a0001c0015a0002c0008a0007c0007others(2): Show | a0001c0015t0001a0002c0008t0001a0007c0007t0001others(2): Show | a0001c0015t0001g0077a0002c0008t0001g0115a0002c0008t0001g0128others(5): Show | 8 | 274 | 0.0292 | -6 | c.601 others(21): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83897284 | ATTAACT | A | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG02622.hp2 others(7): Show |
a0001a0007a0012 | a0001c0015a0007c0007a0007c0025others(1): Show | a0001c0015t0001a0007c0007t0001a0007c0007t0013others(2): Show | a0001c0015t0001g0065a0001c0015t0001g0066a0007c0007t0001g0059others(7): Show | 10 | 274 | 0.0365 | -6 | c.146 others(23): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 13/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83906622 | CCACACA | C | intron_variant | MODIFIER | HG00408.hp1 HG02027.hp2 HG02129.hp1 |
a0006a0015a0021 | a0006c0006a0015c0018a0021c0024 | a0006c0006t0001a0015c0018t0002a0021c0024t0001 | a0006c0006t0001g0161a0015c0018t0002g0164a0021c0024t0001g0143 | 3 | 274 | 0.0110 | -6 | c.170 others(25): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 84018679 | TGAGGGA | T | intron_variant | MODIFIER | HG00280.hp1 HG00738.hp2 HG01258.hp2 others(3): Show |
a0001a0009 | a0001c0058a0009c0009 | a0001c0058t0001a0009c0009t0001a0009c0009t0009others(1): Show | a0001c0058t0001g0031a0009c0009t0001g0006a0009c0009t0001g0046others(3): Show | 6 | 274 | 0.0219 | -6 | c.427 others(25): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL4_chr1_150544408_150565933 | 150544923 | CTTTTTT | C | upstream_gene_variant | MODIFIER | HG00621.hp1 HG02071.hp2 HG02080.hp1 others(10): Show |
a0001 | a0001c0001a0001c0006a0001c0007 | a0001c0001t0001a0001c0006t0001a0001c0007t0001 | a0001c0001t0001g0025a0001c0006t0001g0004a0001c0007t0001g0004 | 13 | 440 | 0.0296 | -6 | c.-47 others(17): Show |
ADAMTSL4 | ENSG00000143382.16 | transcript | ENST00000271643.9 | protein_coding | 4484 | chr1 | TogoVar | ||||||
ADAMTSL4_chr1_150544408_150565933 | 150557790 | GCTGAGC | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(66): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0002c0003others(13): Show | a0001c0001t0001a0002c0002t0001a0002c0003t0001others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0034a0002c0002t0001g0003others(24): Show | 69 | 440 | 0.1568 | -6 | c.217 others(23): Show |
ADAMTSL4 | ENSG00000143382.16 | transcript | ENST00000271643.9 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ADAMTSL5_chr19_1500022_1518019 | 1514754 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(111): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0009others(72): Show | 114 | 352 | 0.3239 | -6 | c.-20 others(17): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 1736 | chr19 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1209471 | ACCCATG | A | intron_variant | MODIFIER | HG02622.hp1 HG03139.hp1 HG03540.hp1 |
a0001a0008 | a0001c0001a0008c0013 | a0001c0001t0023a0001c0001t0061a0008c0013t0020 | a0001c0001t0023g0023a0001c0001t0061g0087a0008c0013t0020g0037 | 3 | 106 | 0.0283 | -6 | c.168 others(25): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 7/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1219049 | CAAAAAA | C | intron_variant | MODIFIER | HG01433.hp1 HG02145.hp2 HG02615.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0012others(10): Show | a0001c0001t0001g0045a0001c0001t0001g0065a0001c0001t0010g0013others(13): Show | 16 | 106 | 0.1509 | -6 | c.151 others(25): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 6/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1219852 | GTGATGA | G | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00639.hp1 others(30): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0012others(22): Show | a0001c0001t0001g0045a0001c0001t0001g0065a0001c0001t0010g0013others(30): Show | 33 | 106 | 0.3113 | -6 | c.151 others(25): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 6/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1220063 | ATGATGG | A | intron_variant | MODIFIER | HG02080.hp1 HG02080.hp2 HG03098.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0036a0002c0002t0004a0002c0002t0041 | a0001c0001t0036g0072a0002c0002t0004g0095a0002c0002t0041g0074 | 3 | 106 | 0.0283 | -6 | c.151 others(25): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 6/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1235765 | CAAAGAG | C | intron_variant | MODIFIER | HG02083.hp2 NA19070.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0005 | a0002c0002t0002g0050a0002c0002t0005g0012 | 2 | 106 | 0.0189 | -6 | c.136 others(25): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1236072 | CAGGTGG | C | intron_variant | MODIFIER | HG02257.hp2 HG03017.hp2 |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0008 | a0002c0002t0005g0033a0002c0002t0008g0047 | 2 | 106 | 0.0189 | -6 | c.136 others(25): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar |