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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASPH_chr8_61495556_61719592 | 61628323 | CTTTT | C | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG00735.hp1 others(84): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0078a0001c0001t0001g0079a0001c0001t0001g0082others(84): Show | 87 | 258 | 0.3372 | -4 | c.934 others(21): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 13/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61704194 | CAAAA | C | intron_variant | MODIFIER | HG00609.hp1 HG01109.hp2 HG02683.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0013 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0175a0001c0001t0001g0176a0001c0001t0003g0202others(2): Show | 5 | 258 | 0.0194 | -4 | c.103 others(23): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 1/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61706404 | CAAAA | C | intron_variant | MODIFIER | HG01070.hp2 HG01074.hp1 HG02148.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007 | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0087others(6): Show | 9 | 258 | 0.0349 | -4 | c.103 others(21): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 1/24 | chr8 | TogoVar | ||||||
ASPM_chr1_197079127_197151669 | 197109155 | AAGAT | A | intron_variant | MODIFIER | HG02280.hp2 HG03139.hp2 NA19043.hp1 |
a0001a0020 | a0001c0039a0020c0019 | a0001c0039t0001a0020c0019t0001 | a0001c0039t0001g0172a0020c0019t0001g0031 | 3 | 296 | 0.0101 | -4 | c.406 others(23): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 17/27 | chr1 | TogoVar | ||||||
ASPM_chr1_197079127_197151669 | 197126464 | AAAAG | A | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00735.hp2 others(56): Show |
a0001a0002a0016others(5): Show | a0001c0008a0002c0002a0002c0040others(6): Show | a0001c0008t0001a0002c0002t0001a0002c0002t0007others(7): Show | a0001c0008t0001g0096a0002c0002t0001g0003a0002c0002t0001g0004others(36): Show | 59 | 296 | 0.1993 | -4 | c.293 others(23): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 10/27 | chr1 | TogoVar | ||||||
ASPM_chr1_197079127_197151669 | 197128761 | AAAAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00639.hp2 others(61): Show |
a0002a0016a0024others(3): Show | a0002c0002a0002c0040a0016c0023others(4): Show | a0002c0002t0001a0002c0002t0007a0002c0040t0001others(5): Show | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0010others(41): Show | 64 | 296 | 0.2162 | -4 | c.276 others(20): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 9/27 | chr1 | TogoVar | ||||||
ASPM_chr1_197079127_197151669 | 197145845 | AATAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp1 others(85): Show |
a0001a0008a0009others(9): Show | a0001c0001a0001c0008a0001c0026others(11): Show | a0001c0001t0001a0001c0001t0009a0001c0008t0001others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(59): Show | 88 | 296 | 0.2973 | -4 | c.297 others(19): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 1/27 | chr1 | TogoVar | ||||||
ASPRV1_chr2_69955089_69966631 | 69962199 | GACAC | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(229): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000others(11): Show | 232 | 464 | 0.5000 | -4 | c.-76 others(13): Show |
ASPRV1 | ENSG00000244617.3 | transcript | ENST00000320256.6 | protein_coding | 569 | chr2 | TogoVar | ||||||
ASPSCR1_chr17_81972629_82022406 | 82013479 | GTGCC | G | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG03098.hp1 others(2): Show |
a0004 | a0004c0010a0004c0015 | a0004c0010t0001a0004c0015t0001 | a0004c0010t0001g0154a0004c0010t0001g0157a0004c0010t0001g0158others(1): Show | 5 | 366 | 0.0137 | -4 | c.135 others(23): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ASRGL1_chr11_62332448_62398412 | 62334639 | GAAGA | G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(100): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(99): Show | 103 | 370 | 0.2784 | -4 | c.-30 others(15): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 2808 | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62362813 | TACAC | T | intron_variant | MODIFIER | HG02622.hp1 HG02630.hp2 HG02683.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0021a0001c0001t0038 | a0001c0001t0003g0167a0001c0001t0021g0335a0001c0001t0021g0337others(1): Show | 4 | 370 | 0.0108 | -4 | c.491 others(21): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ASRGL1_chr11_62332448_62398412 | 62375428 | TTATA | T | intron_variant | MODIFIER | HG00735.hp1 HG01069.hp1 HG01070.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0060a0001c0001t0001g0113a0001c0001t0001g0127others(6): Show | 9 | 370 | 0.0243 | -4 | c.492 others(23): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ASRGL1_chr11_62332448_62398412 | 62375478 | ATATT | A | intron_variant | MODIFIER | HG03942.hp2 NA18962.hp1 NA18983.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0007t0003 | a0001c0001t0003g0142a0001c0001t0003g0157a0001c0007t0003g0134 | 3 | 370 | 0.0081 | -4 | c.492 others(23): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ASRGL1_chr11_62332448_62398412 | 62384035 | CGTGT | C | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp1 HG01358.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005 | a0001c0001t0002g0246a0001c0001t0003g0171a0001c0001t0005g0361 | 3 | 370 | 0.0081 | -4 | c.492 others(21): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ASRGL1_chr11_62332448_62398412 | 62394146 | CATTT | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(92): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0003a0001c0001t0009a0001c0001t0011others(10): Show | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0007others(92): Show | 95 | 370 | 0.2568 | -4 | c.*18 others(15): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 735 | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62397679 | AAAAC | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(93): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(11): Show | a0001c0001t0001g0045a0001c0001t0001g0064a0001c0001t0001g0078others(93): Show | 96 | 370 | 0.2595 | -4 | c.*53 others(15): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4268 | chr11 | TogoVar | ||||||
ASS1_chr9_130439961_130506274 | 130443805 | CTTTG | C | upstream_gene_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG01943.hp2 others(4): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0064a0001c0001t0001g0065a0001c0001t0001g0138others(4): Show | 7 | 374 | 0.0187 | -4 | c.-11 others(15): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 1155 | chr9 | TogoVar | ||||||
ASS1_chr9_130439961_130506274 | 130455051 | TCATC | T | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG00741.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0171a0001c0001t0001g0172a0001c0001t0001g0329others(19): Show | 26 | 374 | 0.0695 | -4 | c.174 others(19): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ASS1_chr9_130439961_130506274 | 130465034 | TTATA | T | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG00738.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0018a0001c0001t0001g0163a0001c0001t0001g0164others(24): Show | 30 | 374 | 0.0802 | -4 | c.420 others(19): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ASS1_chr9_130439961_130506274 | 130479281 | CTGTG | C | intron_variant | MODIFIER | HG01891.hp2 HG02559.hp2 HG02965.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0042a0001c0003t0001g0185a0001c0003t0001g0346 | 3 | 374 | 0.0080 | -4 | c.689 others(19): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ASS1_chr9_130439961_130506274 | 130484799 | GCACA | G | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 NA18968.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0008 | a0001c0001t0001a0001c0002t0001a0003c0008t0001 | a0001c0001t0001g0040a0001c0001t0001g0062a0001c0001t0001g0250others(2): Show | 6 | 374 | 0.0160 | -4 | c.838 others(21): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ASS1_chr9_130439961_130506274 | 130501278 | AGTGT | A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00558.hp1 others(40): Show |
a0001a0003a0007others(1): Show | a0001c0001a0001c0003a0001c0007others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0007t0001others(3): Show | a0001c0001t0001g0010a0001c0001t0001g0022a0001c0001t0001g0027others(39): Show | 43 | 374 | 0.1150 | -4 | c.*25 others(13): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 5 | chr9 | TogoVar | ||||||
ASS1_chr9_130439961_130506274 | 130505887 | GATTT | G | downstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG02922.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0044a0001c0003t0001g0219a0001c0003t0001g0324others(1): Show | 4 | 374 | 0.0107 | -4 | c.*48 others(15): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 4614 | chr9 | TogoVar | ||||||
ASTE1_chr3_131008875_131031825 | 131009246 | TACTC | T | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01123.hp2 HG01167.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0081 | 7 | 404 | 0.0173 | -4 | c.*48 others(15): Show |
ASTE1 | ENSG00000034533.12 | transcript | ENST00000264992.8 | protein_coding | 4628 | chr3 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176867919 | TTTCC | T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00673.hp1 others(16): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0017a0001c0002t0001others(4): Show | a0001c0001t0001g0023a0001c0001t0001g0026a0001c0001t0001g0028others(16): Show | 19 | 112 | 0.1696 | -4 | c.364 others(21): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 22/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176908132 | AACAC | A | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG01070.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0008a0001c0001t0018a0001c0002t0002others(5): Show | a0001c0001t0008g0086a0001c0001t0018g0054a0001c0002t0002g0013others(8): Show | 11 | 112 | 0.0982 | -4 | c.267 others(25): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 16/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176922556 | CAAAA | C | intron_variant | MODIFIER | HG02615.hp1 HG02615.hp2 HG02630.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0001a0001c0001t0007a0001c0002t0007others(2): Show | a0001c0001t0001g0035a0001c0001t0007g0099a0001c0002t0007g0020others(5): Show | 8 | 112 | 0.0714 | -4 | c.267 others(25): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 16/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176931471 | AAAAT | A | intron_variant | MODIFIER | HG02615.hp1 HG02630.hp1 HG02717.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0007 | a0001c0001t0007g0099a0001c0002t0007g0020a0001c0002t0007g0069others(2): Show | 5 | 112 | 0.0446 | -4 | c.267 others(23): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 16/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176939805 | AGAAG | A | intron_variant | MODIFIER | HG03098.hp1 HG03225.hp2 HG03579.hp2 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0002a0001c0003t0019 | a0001c0002t0002g0032a0001c0003t0002g0064a0001c0003t0002g0079others(2): Show | 5 | 112 | 0.0446 | -4 | c.237 others(23): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 14/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176939859 | AAGGG | A | intron_variant | MODIFIER | HG02647.hp2 HG02809.hp1 HG03579.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0011a0001c0003t0002 | a0001c0002t0002g0047a0001c0002t0011g0009a0001c0003t0002g0074 | 3 | 112 | 0.0268 | -4 | c.237 others(23): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 14/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176942818 | GTGTA | G | intron_variant | MODIFIER | HG01346.hp2 HG03834.hp1 |
a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0057a0002c0004t0003g0093 | 2 | 112 | 0.0179 | -4 | c.237 others(23): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 14/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176942832 | ATATG | A | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02895.hp2 others(7): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0006others(4): Show | a0001c0002t0002a0001c0003t0002a0001c0006t0011others(4): Show | a0001c0002t0002g0032a0001c0003t0002g0064a0001c0006t0011g0111others(7): Show | 10 | 112 | 0.0893 | -4 | c.237 others(23): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 14/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176952230 | TTTTC | T | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00673.hp1 others(12): Show |
a0001a0002a0005 | a0001c0006a0002c0004a0002c0008others(1): Show | a0001c0006t0010a0002c0004t0003a0002c0008t0003others(1): Show | a0001c0006t0010g0027a0002c0004t0003g0042a0002c0004t0003g0057others(12): Show | 15 | 112 | 0.1339 | -4 | c.188 others(23): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 11/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176962564 | TAAAC | T | intron_variant | MODIFIER | HG02976.hp1 HG03225.hp1 |
a0002 | a0002c0011 | a0002c0011t0009 | a0002c0011t0009g0003a0002c0011t0009g0040 | 2 | 112 | 0.0179 | -4 | c.159 others(23): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 9/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176970555 | ATAGG | A | intron_variant | MODIFIER | HG02257.hp2 HG02615.hp2 HG02809.hp2 others(3): Show |
a0001a0002 | a0001c0005a0001c0012a0002c0014 | a0001c0005t0004a0001c0005t0005a0001c0012t0005others(1): Show | a0001c0005t0004g0076a0001c0005t0004g0077a0001c0005t0005g0059others(3): Show | 6 | 112 | 0.0536 | -4 | c.152 others(23): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 8/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176985845 | TACAC | T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00673.hp2 others(37): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(14): Show | a0001c0001t0001g0023a0001c0001t0001g0026a0001c0001t0001g0028others(37): Show | 40 | 112 | 0.3571 | -4 | c.152 others(25): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 8/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177002376 | AACAC | A | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG01070.hp2 others(13): Show |
a0001a0002 | a0001c0003a0001c0006a0001c0009others(2): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0008others(7): Show | a0001c0003t0001g0002a0001c0003t0002g0067a0001c0003t0002g0079others(13): Show | 16 | 112 | 0.1429 | -4 | c.152 others(25): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 8/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177027713 | AGTGT | A | intron_variant | MODIFIER | HG01123.hp2 HG02145.hp2 HG02258.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0049a0001c0001t0002g0051a0001c0002t0001g0008others(10): Show | 13 | 112 | 0.1161 | -4 | c.112 others(23): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 5/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177033123 | CTGTG | C | intron_variant | MODIFIER | HG02145.hp1 HG02615.hp2 HG02886.hp1 others(4): Show |
a0001 | a0001c0003a0001c0012 | a0001c0003t0001a0001c0003t0002a0001c0003t0019others(1): Show | a0001c0003t0001g0109a0001c0003t0002g0018a0001c0003t0002g0036others(4): Show | 7 | 112 | 0.0625 | -4 | c.472 others(19): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 2/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177034244 | AACAC | A | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG01192.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(10): Show | a0001c0001t0001g0107a0001c0001t0002g0012a0001c0001t0002g0051others(18): Show | 21 | 112 | 0.1875 | -4 | c.472 others(21): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 2/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177058810 | CACAA | C | intron_variant | MODIFIER | NA18952.hp1 NA18952.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0002c0004t0003 | a0001c0001t0002g0021a0002c0004t0003g0065 | 2 | 112 | 0.0179 | -4 | c.471 others(21): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 2/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177115655 | AAAAT | A | intron_variant | MODIFIER | HG01192.hp1 HG01255.hp1 HG01993.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0007others(3): Show | a0001c0001t0001g0110a0001c0001t0001g0112a0001c0002t0002g0108others(6): Show | 9 | 112 | 0.0804 | -4 | c.283 others(23): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177149566 | ACACT | A | intron_variant | MODIFIER | HG01070.hp2 HG02257.hp2 HG02647.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0007others(7): Show | a0001c0001t0001g0058a0001c0002t0001g0008a0001c0002t0007g0082others(8): Show | 11 | 112 | 0.0982 | -4 | c.283 others(23): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177149594 | ACACT | A | intron_variant | MODIFIER | HG02896.hp2 NA18522.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0007a0001c0003t0002 | a0001c0002t0007g0082a0001c0003t0002g0081 | 2 | 112 | 0.0179 | -4 | c.283 others(23): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177158655 | CGTGT | C | intron_variant | MODIFIER | HG01071.hp1 HG01993.hp1 HG02257.hp1 others(15): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0002t0007a0001c0002t0015others(10): Show | a0001c0001t0001g0035a0001c0001t0001g0058a0001c0002t0007g0082others(15): Show | 18 | 112 | 0.1607 | -4 | c.283 others(21): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116419185 | TCACA | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00639.hp1 others(39): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0002g0051a0001c0001t0003g0013a0001c0001t0003g0063others(39): Show | 42 | 102 | 0.4118 | -4 | c.*66 others(15): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 3926 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116446272 | TAGAG | T | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01109.hp1 others(24): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(11): Show | a0001c0001t0001g0015a0001c0001t0001g0034a0001c0001t0001g0037others(24): Show | 27 | 102 | 0.2647 | -4 | c.349 others(23): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 20/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116468237 | CAGAA | C | intron_variant | MODIFIER | HG01496.hp1 HG02698.hp2 HG03239.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0008a0001c0002t0008a0001c0003t0002others(1): Show | a0001c0001t0008g0008a0001c0001t0008g0065a0001c0002t0008g0024others(2): Show | 5 | 102 | 0.0490 | -4 | c.349 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 20/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116477857 | AAAAG | A | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01109.hp1 others(17): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(6): Show | a0001c0001t0001g0015a0001c0001t0001g0034a0001c0001t0001g0037others(17): Show | 20 | 102 | 0.1961 | -4 | c.349 others(23): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 20/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116487882 | TTCTC | T | intron_variant | MODIFIER | HG01081.hp1 HG01109.hp2 HG01884.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0013others(2): Show | a0001c0001t0006a0001c0001t0009a0001c0001t0011others(4): Show | a0001c0001t0006g0014a0001c0001t0006g0079a0001c0001t0009g0086others(6): Show | 9 | 102 | 0.0882 | -4 | c.335 others(21): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar |