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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASTN2_chr9_116418112_117420057 | 116852878 | TACACAC | T | intron_variant | MODIFIER | NA18906.hp2 NA19010.hp2 |
a0001a0005 | a0001c0012a0005c0015 | a0001c0012t0001a0005c0015t0003 | a0001c0012t0001g0098a0005c0015t0003g0019 | 2 | 102 | 0.0196 | -6 | c.204 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 11/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116861214 | TACACAC | T | intron_variant | MODIFIER | HG01169.hp1 HG01258.hp2 HG02109.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(5): Show | a0001c0001t0001g0034a0001c0001t0001g0095a0001c0001t0006g0014others(7): Show | 10 | 102 | 0.0980 | -6 | c.204 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 11/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116862837 | CACACAT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00639.hp1 others(49): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0015a0001c0001t0001g0028a0001c0001t0001g0037others(49): Show | 52 | 102 | 0.5098 | -6 | c.204 others(23): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 11/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116865423 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG01099.hp2 others(18): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(12): Show | a0001c0001t0001g0054a0001c0001t0003g0063a0001c0001t0003g0090others(18): Show | 21 | 102 | 0.2059 | -6 | c.189 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116889720 | TACACAC | T | intron_variant | MODIFIER | HG02698.hp1 HG03471.hp2 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0003a0002c0004t0001 | a0001c0002t0003g0041a0002c0004t0001g0004 | 2 | 102 | 0.0196 | -6 | c.189 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116893159 | TCACACA | T | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG01515.hp2 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0037a0001c0001t0001g0100a0001c0001t0002g0018others(20): Show | 23 | 102 | 0.2255 | -6 | c.189 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116933979 | CTTTTTT | C | intron_variant | MODIFIER | HG01109.hp2 HG02451.hp2 HG02896.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0005a0001c0002t0001a0001c0002t0003others(1): Show | a0001c0001t0005g0077a0001c0002t0001g0033a0001c0002t0003g0094others(1): Show | 4 | 102 | 0.0392 | -6 | c.188 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117020002 | CTGTGTG | C | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp2 HG01109.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0015a0001c0001t0001g0028a0001c0001t0002g0070others(15): Show | 18 | 102 | 0.1765 | -6 | c.142 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 6/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117032068 | TGTAACA | T | intron_variant | MODIFIER | HG02615.hp2 HG02809.hp1 HG03041.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0002g0051a0001c0001t0005g0035a0001c0001t0006g0016others(1): Show | 4 | 102 | 0.0392 | -6 | c.142 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 6/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117120018 | GTATATA | G | intron_variant | MODIFIER | HG02451.hp2 HG03041.hp2 HG03130.hp2 others(2): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0005a0001c0001t0006a0001c0001t0015others(1): Show | a0001c0001t0005g0077a0001c0001t0006g0014a0001c0001t0006g0079others(2): Show | 5 | 102 | 0.0490 | -6 | c.116 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117128371 | CAAAAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG01081.hp2 HG01099.hp1 others(34): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0015a0001c0001t0001g0028a0001c0001t0001g0034others(34): Show | 37 | 102 | 0.3628 | -6 | c.116 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117134266 | TTATATA | T | intron_variant | MODIFIER | HG02572.hp1 NA19011.hp2 |
a0001 | a0001c0002a0001c0013 | a0001c0002t0002a0001c0013t0009 | a0001c0002t0002g0059a0001c0013t0009g0072 | 2 | 102 | 0.0196 | -6 | c.116 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117134295 | TACACAC | T | intron_variant | MODIFIER | HG01261.hp1 HG03471.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0015a0001c0005t0005 | a0001c0001t0015g0045a0001c0005t0005g0076 | 2 | 102 | 0.0196 | -6 | c.116 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117144660 | GTTTTTT | G | intron_variant | MODIFIER | HG00099.hp2 HG01099.hp2 HG01243.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(10): Show | a0001c0001t0001g0099a0001c0001t0001g0100a0001c0001t0003g0090others(14): Show | 17 | 102 | 0.1667 | -6 | c.101 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 3/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117155504 | GAGAGAC | G | intron_variant | MODIFIER | HG01081.hp1 HG01109.hp2 HG01496.hp2 others(18): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0001g0015a0001c0001t0001g0037a0001c0001t0003g0013others(18): Show | 21 | 102 | 0.2059 | -6 | c.101 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 3/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117225535 | GTATATA | G | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG01934.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004a0001c0002t0010 | a0001c0002t0002g0023a0001c0002t0002g0053a0001c0002t0004g0091others(1): Show | 4 | 102 | 0.0392 | -6 | c.631 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 2/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117242004 | CTTTTTT | C | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp2 HG01261.hp1 others(12): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(11): Show | a0001c0001t0001g0015a0001c0001t0002g0018a0001c0001t0006g0014others(12): Show | 15 | 102 | 0.1471 | -6 | c.631 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 2/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117298702 | ATGTGTG | A | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01099.hp2 others(18): Show |
a0001a0006a0007 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(12): Show | a0001c0001t0002g0040a0001c0001t0003g0090a0001c0001t0006g0016others(18): Show | 21 | 102 | 0.2059 | -6 | c.443 others(23): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117358261 | GACACAC | G | intron_variant | MODIFIER | HG00099.hp2 HG01243.hp1 HG01261.hp2 others(13): Show |
a0001a0005a0007 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0002others(11): Show | a0001c0001t0001g0037a0001c0001t0007g0087a0001c0002t0002g0059others(13): Show | 16 | 102 | 0.1569 | -6 | c.442 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117364950 | AACACAC | A | intron_variant | MODIFIER | HG00735.hp2 HG01884.hp2 HG02559.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0007a0001c0003t0004others(4): Show | a0001c0001t0002g0040a0001c0001t0007g0087a0001c0003t0004g0085others(4): Show | 7 | 102 | 0.0686 | -6 | c.442 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117374369 | TAAAAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG01081.hp2 others(11): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0002t0002others(9): Show | a0001c0001t0003g0063a0001c0001t0004g0060a0001c0002t0002g0059others(11): Show | 14 | 102 | 0.1373 | -6 | c.442 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117406857 | AACACAC | A | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG01891.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0015a0001c0001t0001g0100a0001c0001t0002g0051others(12): Show | 15 | 102 | 0.1471 | -6 | c.442 others(23): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/22 | chr9 | TogoVar | ||||||
ASXL1_chr20_32353331_32444319 | 32379161 | CTTTTTT | C | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02083.hp2 others(3): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0004a0004c0006t0008 | a0001c0001t0001g0073a0001c0001t0001g0088a0001c0001t0001g0093others(3): Show | 6 | 282 | 0.0213 | -6 | c.252 others(25): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASXL1_chr20_32353331_32444319 | 32393040 | TATAGAC | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00544.hp1 others(96): Show |
a0001a0008a0010others(3): Show | a0001c0002a0001c0017a0008c0011others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(9): Show | a0001c0002t0001g0241a0001c0002t0001g0253a0001c0002t0002g0013others(96): Show | 99 | 282 | 0.3511 | -6 | c.252 others(25): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASXL1_chr20_32353331_32444319 | 32411041 | AAAAAAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(38): Show |
a0001a0003 | a0001c0001a0001c0018a0001c0020others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(3): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0037others(38): Show | 41 | 282 | 0.1454 | -6 | c.253 others(25): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASXL1_chr20_32353331_32444319 | 32415933 | GAAAACA | G | intron_variant | MODIFIER | HG01167.hp1 HG01884.hp1 HG02572.hp1 others(3): Show |
a0005 | a0005c0009a0005c0021 | a0005c0009t0003a0005c0021t0003 | a0005c0009t0003g0177a0005c0009t0003g0178a0005c0009t0003g0179others(3): Show | 6 | 282 | 0.0213 | -6 | c.253 others(25): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASXL2_chr2_25728753_25883487 | 25744935 | CCACACA | C | intron_variant | MODIFIER | HG02451.hp1 HG03491.hp2 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0013 | a0001c0001t0001g0123a0001c0001t0012g0181a0001c0001t0013g0031 | 3 | 222 | 0.0135 | -6 | c.186 others(23): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 12/12 | chr2 | TogoVar | ||||||
ASXL2_chr2_25728753_25883487 | 25781960 | TTTTTTC | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00423.hp2 others(36): Show |
a0001a0007 | a0001c0001a0001c0011a0001c0012others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(10): Show | a0001c0001t0002g0009a0001c0001t0002g0010a0001c0001t0002g0011others(36): Show | 39 | 222 | 0.1757 | -6 | c.404 others(25): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 5/12 | chr2 | TogoVar | ||||||
ASXL2_chr2_25728753_25883487 | 25801604 | GAAATAT | G | intron_variant | MODIFIER | HG02109.hp1 HG02602.hp2 HG02647.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0019 | a0001c0001t0005g0213a0001c0001t0005g0214a0001c0001t0005g0215others(5): Show | 8 | 222 | 0.0360 | -6 | c.253 others(23): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 4/12 | chr2 | TogoVar | ||||||
ASXL2_chr2_25728753_25883487 | 25807986 | TACACAC | T | intron_variant | MODIFIER | HG01255.hp1 HG02109.hp2 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0013 | a0001c0001t0001g0221a0001c0001t0012g0161a0001c0001t0013g0031 | 3 | 222 | 0.0135 | -6 | c.144 others(23): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 3/12 | chr2 | TogoVar | ||||||
ASXL2_chr2_25728753_25883487 | 25811055 | TACACAC | T | intron_variant | MODIFIER | HG01243.hp1 HG02257.hp2 NA18951.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(1): Show | a0001c0001t0001g0096a0001c0001t0001g0099a0001c0001t0001g0100others(3): Show | 6 | 222 | 0.0270 | -6 | c.144 others(23): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 3/12 | chr2 | TogoVar | ||||||
ASXL2_chr2_25728753_25883487 | 25828515 | AAAAAAT | A | intron_variant | MODIFIER | HG01081.hp2 HG01433.hp1 HG01496.hp1 others(8): Show |
a0002a0009 | a0002c0002a0002c0003a0009c0013 | a0002c0002t0006a0002c0002t0021a0002c0003t0008others(1): Show | a0002c0002t0006g0055a0002c0002t0006g0056a0002c0002t0006g0061others(8): Show | 11 | 222 | 0.0496 | -6 | c.143 others(23): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 3/12 | chr2 | TogoVar | ||||||
ASXL2_chr2_25728753_25883487 | 25842788 | GTGTGTA | G | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02055.hp1 others(11): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0001c0001t0011a0001c0001t0039others(3): Show | a0001c0001t0001g0085a0001c0001t0001g0103a0001c0001t0001g0105others(11): Show | 14 | 222 | 0.0631 | -6 | c.140 others(23): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ASXL3_chr18_33573219_33756195 | 33578458 | CCCGCCG | C | 5_prime_UTR_variant | MODIFIER | HG03453.hp1 HG03704.hp2 NA18906.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0038a0001c0001t0039a0002c0002t0018 | a0001c0001t0038g0183a0001c0001t0039g0180a0002c0002t0018g0181others(1): Show | 4 | 220 | 0.0182 | -6 | c.-13 others(15): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 1/12 | 133 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||
ASXL3_chr18_33573219_33756195 | 33616398 | CTGTGTG | C | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00558.hp2 others(31): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0005a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0041a0001c0001t0001g0157a0001c0001t0002g0159others(31): Show | 34 | 220 | 0.1546 | -6 | c.137 others(23): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ASXL3_chr18_33573219_33756195 | 33636329 | ACAACAG | A | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00558.hp2 others(31): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0005a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0041a0001c0001t0001g0157a0001c0001t0002g0159others(31): Show | 34 | 220 | 0.1546 | -6 | c.138 others(23): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ASXL3_chr18_33573219_33756195 | 33713237 | TGTTTTG | T | intron_variant | MODIFIER | HG01361.hp1 HG02129.hp2 HG02258.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0008a0001c0001t0010others(4): Show | a0001c0001t0002g0050a0001c0001t0002g0132a0001c0001t0002g0186others(6): Show | 9 | 220 | 0.0409 | -6 | c.880 others(25): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 8/11 | chr18 | TogoVar | ||||||
ASZ1_chr7_117358222_117432493 | 117368376 | GTTTAAT | G | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02109.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0105a0001c0001t0003g0107a0001c0001t0003g0110others(17): Show | 20 | 306 | 0.0654 | -6 | c.116 others(23): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 11/12 | chr7 | TogoVar | ||||||
ASZ1_chr7_117358222_117432493 | 117370804 | TTGTGTG | T | intron_variant | MODIFIER | HG01496.hp1 HG01891.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069a0001c0001t0001g0073a0001c0001t0001g0191 | 3 | 306 | 0.0098 | -6 | c.105 others(25): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 10/12 | chr7 | TogoVar | ||||||
ASZ1_chr7_117358222_117432493 | 117379164 | TATATAC | T | intron_variant | MODIFIER | HG02165.hp2 HG02630.hp2 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064a0001c0001t0001g0068a0001c0001t0001g0222 | 3 | 306 | 0.0098 | -6 | c.105 others(23): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 10/12 | chr7 | TogoVar | ||||||
ASZ1_chr7_117358222_117432493 | 117387307 | TCAACAA | T | intron_variant | MODIFIER | HG03017.hp2 HG03654.hp1 NA18953.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0202a0002c0002t0002g0071a0002c0002t0002g0088 | 3 | 306 | 0.0098 | -6 | c.441 others(23): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 4/12 | chr7 | TogoVar | ||||||
ASZ1_chr7_117358222_117432493 | 117412039 | AGTGTGT | A | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02145.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0061a0001c0001t0001g0194a0001c0001t0001g0260others(10): Show | 13 | 306 | 0.0425 | -6 | c.440 others(23): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 4/12 | chr7 | TogoVar | ||||||
ATAD2B_chr2_23743664_23932123 | 23777348 | ATATATC | A | intron_variant | MODIFIER | HG02257.hp1 NA18963.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0144a0001c0001t0001g0174a0001c0001t0004g0116 | 3 | 246 | 0.0122 | -6 | c.313 others(25): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 22/27 | chr2 | TogoVar | ||||||
ATAD2B_chr2_23743664_23932123 | 23780267 | TTGTGTG | T | intron_variant | MODIFIER | HG01081.hp2 HG02074.hp1 HG02559.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0174a0001c0001t0002g0056a0001c0001t0002g0106others(4): Show | 7 | 246 | 0.0285 | -6 | c.313 others(25): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 22/27 | chr2 | TogoVar | ||||||
ATAD2B_chr2_23743664_23932123 | 23875548 | AAAGCAT | A | intron_variant | MODIFIER | HG01081.hp2 HG01255.hp2 HG01261.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005a0001c0001t0004g0006a0001c0001t0004g0117 | 3 | 246 | 0.0122 | -6 | c.977 others(21): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 8/27 | chr2 | TogoVar | ||||||
ATAD2_chr8_123314850_123401447 | 123329981 | CTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(220): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0005a0001c0009others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0041a0001c0001t0001g0061others(219): Show | 223 | 278 | 0.8022 | -6 | c.347 others(25): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 24/27 | chr8 | TogoVar | ||||||
ATAD2_chr8_123314850_123401447 | 123369918 | TTCATCA | T | disruptive_inframe_deletion | MODERATE | HG00597.hp1 HG02809.hp2 HG03688.hp2 others(1): Show |
a0004 | a0004c0007a0004c0014 | a0004c0007t0001a0004c0014t0001 | a0004c0007t0001g0109a0004c0007t0001g0201a0004c0007t0001g0208others(1): Show | 4 | 278 | 0.0144 | -6 | c.828 others(13): Show |
p.Asp others(13): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 7/28 | 923/5547 | 828/4173 | 276/1390 | chr8 | TogoVar | ||
ATAD3A_chr1_1507162_1539685 | 1518666 | TACACAC | T | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02109.hp2 others(10): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0005a0001c0004t0005a0001c0004t0029 | a0001c0003t0005g0019a0001c0003t0005g0052a0001c0003t0005g0054others(9): Show | 13 | 420 | 0.0310 | -6 | c.445 others(21): Show |
ATAD3A | ENSG00000197785.14 | transcript | ENST00000378756.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATAD3B_chr1_1466765_1502848 | 1470425 | CTTTTTT | C | upstream_gene_variant | MODIFIER | HG02451.hp1 HG02965.hp2 HG03225.hp2 others(4): Show |
a0003 | a0003c0005 | a0003c0005t0005 | a0003c0005t0005g0028a0003c0005t0005g0029a0003c0005t0005g0178others(2): Show | 7 | 276 | 0.0254 | -6 | c.-14 others(17): Show |
ATAD3B | ENSG00000160072.20 | transcript | ENST00000673477.1 | protein_coding | 1339 | chr1 | TogoVar | ||||||
ATAD3C_chr1_1444689_1475163 | 1455216 | CAAAAAA | C | intron_variant | MODIFIER | HG02622.hp1 HG03130.hp1 HG03453.hp2 others(4): Show |
a0001a0002a0003 | a0001c0005a0001c0022a0002c0002others(3): Show | a0001c0005t0133a0001c0022t0137a0002c0002t0009others(3): Show | a0001c0005t0133g0335a0001c0022t0137g0328a0002c0002t0009g0127others(3): Show | 7 | 410 | 0.0171 | -6 | c.379 others(21): Show |
ATAD3C | ENSG00000215915.10 | transcript | ENST00000378785.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |