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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASAH2_chr10_50179861_50256516 | 50184127 | TAAG | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(270): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0004a0001c0005others(13): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0006others(60): Show | a0001c0002t0002g0017 a0001c0002t0002g0092 a0001c0002t0002g0104 others(235): Show |
273 | 406 | 0.6724 | -3 | c.*31 others(14): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 733 | chr10 | TogoVar | |||||||
ASAH2_chr10_50179861_50256516 | 50187083 | ACCT | A | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(102): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0005a0001c0009others(6): Show | a0001c0002t0002a0001c0002t0007a0001c0002t0013others(17): Show | a0001c0002t0002g0017 a0001c0002t0002g0092 a0001c0002t0002g0104 others(85): Show |
105 | 357 | 0.2941 | -3 | c.*22 others(12): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 21/21 | 229 | chr10 | TogoVar | ||||||
ASAH2_chr10_50179861_50256516 | 50220836 | CAAA | C | intron_variant | MODIFIER | HG00438.hp2 HG00735.hp1 HG00741.hp1 others(27): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0001c0005others(5): Show | a0001c0002t0006a0001c0002t0007a0001c0002t0018others(13): Show | a0001c0002t0006g0264 a0001c0002t0007g0120 a0001c0002t0018g0291 others(25): Show |
30 | 36 | 0.8333 | -3 | c.894 others(20): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
ASAH2_chr10_50179861_50256516 | 50239828 | ATTT | A | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00597.hp2 others(87): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0004a0001c0005others(7): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(28): Show | a0001c0002t0001g0091 a0001c0002t0002g0017 a0001c0002t0002g0092 others(74): Show |
90 | 170 | 0.5294 | -3 | c.510 others(20): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 4/20 | chr10 | TogoVar | |||||||
ASAH2_chr10_50179861_50256516 | 50247323 | ATTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(94): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0004a0001c0009others(8): Show | a0001c0002t0005a0001c0002t0006a0001c0002t0018others(25): Show | a0001c0002t0005g0044 a0001c0002t0005g0330 a0001c0002t0005g0331 others(78): Show |
97 | 205 | 0.4732 | -3 | c.127 others(20): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 2/20 | chr10 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130049854 | AGAG | A | downstream_gene_variant | MODIFIER | HG01496.hp2 HG02723.hp1 HG03195.hp2 |
a0001a0004 | a0001c0001a0004c0012 | a0001c0001t0012a0004c0012t0027 | a0001c0001t0012g0296 a0001c0001t0012g0298 a0004c0012t0027g0233 |
3 | 306 | 0.0098 | -3 | c.*48 others(14): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2249 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130071000 | AGGG | A | intron_variant | MODIFIER | HG00642.hp2 HG01175.hp1 HG02109.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004a0001c0009 | a0001c0001t0001a0001c0001t0014a0001c0001t0025others(2): Show | a0001c0001t0001g0158 a0001c0001t0001g0278 a0001c0001t0001g0280 others(5): Show |
8 | 287 | 0.0279 | -3 | c.270 others(22): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130080476 | CTCT | C | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG00621.hp2 others(101): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(17): Show | a0001c0001t0001g0020 a0001c0001t0001g0038 a0001c0001t0001g0039 others(101): Show |
104 | 303 | 0.3432 | -3 | c.257 others(20): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 25/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130095294 | ATTT | A | intron_variant | MODIFIER | HG01175.hp2 HG01943.hp2 HG02257.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0009a0002c0002t0003 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0009g0005 others(4): Show |
7 | 107 | 0.0654 | -3 | c.240 others(22): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130097126 | CAAA | C | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG03017.hp1 others(4): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0008t0001 | a0001c0001t0001g0011 a0001c0001t0001g0167 a0001c0001t0001g0243 others(4): Show |
7 | 37 | 0.1892 | -3 | c.240 others(22): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130107183 | CTTT | C | intron_variant | MODIFIER | HG01074.hp1 HG01496.hp1 HG01975.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0108 a0001c0001t0001g0212 a0001c0001t0002g0054 others(6): Show |
9 | 95 | 0.0947 | -3 | c.240 others(22): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130108757 | GTTT | G | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00558.hp1 others(61): Show |
a0001a0002 | a0001c0001a0001c0007a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0030a0001c0001t0031others(9): Show | a0001c0001t0001g0020 a0001c0001t0001g0039 a0001c0001t0001g0042 others(61): Show |
64 | 105 | 0.6095 | -3 | c.240 others(22): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130125694 | TGAA | T | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02615.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0018a0001c0001t0019 | a0001c0001t0008g0009 a0001c0001t0008g0015 a0001c0001t0008g0021 others(3): Show |
6 | 306 | 0.0196 | -3 | c.151 others(20): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 17/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130128139 | ATTT | A | intron_variant | MODIFIER | HG00423.hp2 HG00738.hp2 HG01256.hp1 others(7): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0010 | a0002c0003t0001g0017 a0002c0003t0001g0023 a0002c0003t0001g0025 others(7): Show |
10 | 152 | 0.0658 | -3 | c.121 others(18): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 15/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130132394 | TAAC | T | intron_variant | MODIFIER | HG00642.hp2 HG01891.hp1 HG01975.hp1 others(25): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0010a0001c0001t0011others(6): Show | a0001c0001t0001g0020 a0001c0001t0001g0038 a0001c0001t0001g0039 others(25): Show |
28 | 306 | 0.0915 | -3 | c.121 others(22): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 15/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130147198 | CAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00609.hp1 others(70): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(18): Show | a0001c0001t0001g0020 a0001c0001t0001g0038 a0001c0001t0001g0039 others(70): Show |
73 | 98 | 0.7449 | -3 | c.108 others(22): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 13/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130151370 | CAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG01496.hp2 HG02280.hp2 others(10): Show |
a0002a0004 | a0002c0002a0004c0012 | a0002c0002t0001a0002c0002t0005a0002c0002t0006others(2): Show | a0002c0002t0001g0066 a0002c0002t0001g0084 a0002c0002t0001g0090 others(10): Show |
13 | 35 | 0.3714 | -3 | c.108 others(22): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 13/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130169661 | CAAG | C | intron_variant | MODIFIER | NA18982.hp2 NA19001.hp1 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0011 | a0001c0001t0001g0051 a0001c0001t0010g0043 a0001c0001t0011g0045 |
3 | 306 | 0.0098 | -3 | c.747 others(18): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 9/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130171439 | GAAT | G | intron_variant | MODIFIER | HG01192.hp2 HG01255.hp2 HG01361.hp2 others(6): Show |
a0001 | a0001c0001a0001c0008a0001c0013 | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(1): Show | a0001c0001t0001g0053 a0001c0001t0001g0097 a0001c0001t0001g0163 others(6): Show |
9 | 306 | 0.0294 | -3 | c.747 others(20): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 9/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130174091 | CAAA | C | intron_variant | MODIFIER | HG01167.hp1 HG01168.hp2 HG01169.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0002c0002t0001a0002c0002t0004others(1): Show | a0001c0001t0011g0013 a0002c0002t0001g0085 a0002c0002t0001g0086 others(3): Show |
6 | 100 | 0.0600 | -3 | c.747 others(20): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 9/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130198134 | ATTT | A | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02615.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0018a0001c0001t0019 | a0001c0001t0008g0009 a0001c0001t0008g0015 a0001c0001t0008g0021 others(3): Show |
6 | 282 | 0.0213 | -3 | c.406 others(20): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 5/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130236000 | CAGA | C | intron_variant | MODIFIER | HG00099.hp1 HG01891.hp2 HG02145.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0008a0001c0001t0018a0001c0001t0019others(1): Show | a0001c0001t0008g0009 a0001c0001t0008g0015 a0001c0001t0008g0021 others(4): Show |
7 | 306 | 0.0229 | -3 | c.259 others(18): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 4/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130252254 | ACAT | A | intron_variant | MODIFIER | HG01074.hp2 HG01167.hp2 HG02055.hp2 others(4): Show |
a0001 | a0001c0005a0001c0006 | a0001c0005t0001a0001c0005t0005a0001c0005t0007others(1): Show | a0001c0005t0001g0166 a0001c0005t0005g0285 a0001c0005t0007g0002 others(4): Show |
7 | 306 | 0.0229 | -3 | c.187 others(22): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130262415 | AAAG | A | intron_variant | MODIFIER | HG00621.hp2 HG01071.hp1 HG01256.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0006 | a0001c0001t0001g0034 a0001c0001t0001g0047 a0001c0001t0001g0171 others(9): Show |
12 | 271 | 0.0443 | -3 | c.187 others(22): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130262417 | AGAG | A | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00621.hp1 others(43): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0102 a0001c0001t0002g0236 a0002c0002t0001g0018 others(43): Show |
46 | 264 | 0.1742 | -3 | c.187 others(22): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130263948 | ATTC | A | intron_variant | MODIFIER | HG01074.hp2 HG01167.hp2 HG02055.hp2 others(4): Show |
a0001 | a0001c0005a0001c0006 | a0001c0005t0001a0001c0005t0005a0001c0005t0007others(1): Show | a0001c0005t0001g0166 a0001c0005t0005g0285 a0001c0005t0007g0002 others(4): Show |
7 | 306 | 0.0229 | -3 | c.187 others(22): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130267120 | AAAC | A | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00558.hp1 others(50): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0004a0002c0002t0015others(2): Show | a0002c0002t0003g0055 a0002c0002t0003g0059 a0002c0002t0003g0082 others(50): Show |
53 | 306 | 0.1732 | -3 | c.187 others(22): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130267131 | AAAC | A | intron_variant | MODIFIER | HG00544.hp2 HG01168.hp2 HG01169.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0004a0002c0002t0020 | a0002c0002t0003g0121 a0002c0002t0003g0258 a0002c0002t0004g0230 others(3): Show |
6 | 306 | 0.0196 | -3 | c.187 others(22): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130285927 | TATC | T | intron_variant | MODIFIER | HG00099.hp1 HG01891.hp2 HG02145.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0008a0001c0001t0018a0001c0001t0019others(1): Show | a0001c0001t0008g0009 a0001c0001t0008g0015 a0001c0001t0008g0021 others(4): Show |
7 | 305 | 0.0230 | -3 | c.187 others(22): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130312277 | TAAA | T | intron_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG02922.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0006a0002c0002t0010 | a0002c0002t0006g0303 a0002c0002t0006g0304 a0002c0002t0006g0305 others(3): Show |
6 | 290 | 0.0207 | -3 | c.186 others(22): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130346518 | TTCA | T | intron_variant | MODIFIER | HG00099.hp1 HG01891.hp2 HG02145.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0008a0001c0001t0018a0001c0001t0019others(1): Show | a0001c0001t0008g0009 a0001c0001t0008g0015 a0001c0001t0008g0021 others(4): Show |
7 | 306 | 0.0229 | -3 | c.186 others(22): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130382285 | CAAA | C | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02886.hp1 others(6): Show |
a0001 | a0001c0001a0001c0009a0001c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0018others(3): Show | a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 others(6): Show |
9 | 84 | 0.1071 | -3 | c.59+ others(20): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130389131 | CTGT | C | intron_variant | MODIFIER | HG01175.hp2 HG01943.hp2 HG03017.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0005 a0001c0001t0009g0006 a0001c0001t0009g0007 others(1): Show |
4 | 306 | 0.0131 | -3 | c.59+ others(20): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130399866 | GAGT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00642.hp2 others(96): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(33): Show | a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0034 others(96): Show |
99 | 306 | 0.3235 | -3 | c.59+ others(18): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130402919 | GGTT | G | intron_variant | MODIFIER | HG00099.hp1 HG01496.hp2 HG01891.hp2 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0010others(1): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0018others(5): Show | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(10): Show |
13 | 220 | 0.0591 | -3 | c.-27 others(18): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130419945 | CCTT | C | intron_variant | MODIFIER | HG01175.hp2 HG01943.hp2 HG03017.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0005 a0001c0001t0009g0006 a0001c0001t0009g0007 others(1): Show |
4 | 306 | 0.0131 | -3 | c.-27 others(22): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130428635 | GTCA | G | intron_variant | MODIFIER | HG01167.hp2 HG02886.hp2 NA19240.hp1 |
a0001 | a0001c0005a0001c0007 | a0001c0005t0007a0001c0007t0007 | a0001c0005t0007g0002 a0001c0005t0007g0003 a0001c0007t0007g0001 |
3 | 306 | 0.0098 | -3 | c.-28 others(22): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130445972 | CAAA | C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00609.hp2 others(66): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(11): Show | a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0216 others(66): Show |
69 | 113 | 0.6106 | -3 | c.-25 others(14): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2299 | chr8 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9205445 | CTTG | C | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01361.hp1 NA21309.hp1 |
a0002 | a0002c0001a0002c0005 | a0002c0001t0001a0002c0005t0001 | a0002c0001t0001g0004 a0002c0001t0001g0005 a0002c0005t0001g0003 |
3 | 210 | 0.0143 | -3 | c.-16 others(14): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1366 | chr2 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9212589 | GTGA | G | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(17): Show |
a0001a0002 | a0001c0003a0001c0004a0001c0006others(2): Show | a0001c0003t0001a0001c0003t0004a0001c0003t0006others(6): Show | a0001c0003t0001g0029 a0001c0003t0001g0039 a0001c0003t0004g0038 others(17): Show |
20 | 210 | 0.0952 | -3 | c.126 others(20): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9234110 | CAAA | C | intron_variant | MODIFIER | HG00735.hp2 HG01346.hp1 HG01358.hp2 others(6): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0003a0002c0001t0001a0002c0001t0014 | a0001c0002t0003g0094 a0002c0001t0001g0042 a0002c0001t0001g0088 others(6): Show |
9 | 103 | 0.0874 | -3 | c.126 others(22): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9254208 | CAAA | C | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG01891.hp2 others(6): Show |
a0001a0002 | a0001c0002a0001c0006a0001c0007others(2): Show | a0001c0002t0003a0001c0006t0004a0001c0007t0004others(2): Show | a0001c0002t0003g0052 a0001c0006t0004g0013 a0001c0006t0004g0018 others(6): Show |
9 | 157 | 0.0573 | -3 | c.127 others(22): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9254235 | AAAT | A | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp2 HG01106.hp2 others(11): Show |
a0001a0002a0003 | a0001c0002a0002c0001a0003c0014 | a0001c0002t0001a0001c0002t0003a0002c0001t0001others(2): Show | a0001c0002t0001g0116 a0001c0002t0001g0126 a0001c0002t0003g0027 others(11): Show |
14 | 210 | 0.0667 | -3 | c.127 others(22): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9264195 | AAAT | A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(70): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(5): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(18): Show | a0001c0002t0001g0097 a0001c0002t0002g0007 a0001c0002t0002g0016 others(70): Show |
73 | 201 | 0.3632 | -3 | c.127 others(22): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9274319 | CTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG00738.hp2 others(25): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0001c0012others(3): Show | a0001c0002t0003a0001c0004t0005a0001c0012t0003others(4): Show | a0001c0002t0003g0027 a0001c0002t0003g0050 a0001c0002t0003g0052 others(25): Show |
28 | 50 | 0.5600 | -3 | c.127 others(20): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9279061 | CAGG | C | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG00735.hp2 others(31): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0001c0012others(3): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0013others(6): Show | a0001c0002t0002g0198 a0001c0002t0003g0027 a0001c0002t0003g0050 others(31): Show |
34 | 210 | 0.1619 | -3 | c.127 others(18): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9300392 | CCTT | C | intron_variant | MODIFIER | HG00738.hp1 HG01109.hp2 HG01884.hp2 others(12): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0003a0001c0003t0016a0001c0004t0005others(2): Show | a0001c0002t0003g0166 a0001c0003t0016g0174 a0001c0004t0005g0176 others(12): Show |
15 | 210 | 0.0714 | -3 | c.345 others(20): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9314922 | CAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00673.hp2 HG00735.hp1 others(35): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(11): Show | a0001c0002t0001g0097 a0001c0002t0002g0007 a0001c0002t0002g0016 others(35): Show |
38 | 40 | 0.9500 | -3 | c.346 others(20): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9315526 | TAGG | T | intron_variant | MODIFIER | HG02257.hp2 HG02723.hp1 HG03540.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0011 a0001c0003t0004g0038 a0001c0003t0004g0043 others(1): Show |
4 | 210 | 0.0190 | -3 | c.346 others(20): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9317119 | CACA | C | intron_variant | MODIFIER | HG01496.hp2 HG02717.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0003a0001c0011 | a0001c0003t0001a0001c0011t0001 | a0001c0003t0001g0169 a0001c0003t0001g0171 a0001c0003t0001g0172 others(1): Show |
4 | 210 | 0.0190 | -3 | c.346 others(20): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |