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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABR_chr17_998519_1184981 | 1088452 | TTAATAA | T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(96): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0067 a0001c0001t0001g0097 a0001c0001t0001g0147 others(96): Show |
99 | 210 | 0.4714 | -6 | c.531 others(23): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 4/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1143252 | CATTCCT | C | intron_variant | MODIFIER | NA18970.hp2 NA19000.hp2 NA19070.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0011 | a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 others(2): Show |
5 | 336 | 0.0149 | -6 | c.62- others(23): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ABT1_chr6_26591953_26605739 | 26603553 | AAACAAC | A | downstream_gene_variant | MODIFIER | HG03017.hp1 HG03239.hp2 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 365 | 0.0082 | -6 | c.*49 others(17): Show |
ABT1 | ENSG00000146109.5 | transcript | ENST00000274849.3 | protein_coding | 2815 | chr6 | TogoVar | |||||||
ABTB1_chr3_127667952_127685926 | 127668101 | CGTGTGT | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG00741.hp2 others(39): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0025 others(9): Show |
42 | 139 | 0.3022 | -6 | c.-49 others(17): Show |
ABTB1 | ENSG00000114626.18 | transcript | ENST00000232744.13 | protein_coding | 4850 | chr3 | TogoVar | |||||||
ABTB2_chr11_34145987_34363010 | 34172371 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00621.hp2 others(71): Show |
a0001a0002a0006 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0001others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(71): Show |
74 | 194 | 0.3814 | -6 | c.139 others(23): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 4/16 | chr11 | TogoVar | |||||||
ABTB2_chr11_34145987_34363010 | 34258965 | CTTTATA | C | intron_variant | MODIFIER | HG00621.hp2 HG01070.hp1 HG01175.hp2 others(30): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0053 others(30): Show |
33 | 244 | 0.1352 | -6 | c.884 others(25): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
ABTB2_chr11_34145987_34363010 | 34293609 | TGTGTCA | T | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG02486.hp2 others(3): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0018 | a0001c0001t0001a0002c0002t0002a0005c0018t0002 | a0001c0001t0001g0141 a0001c0001t0001g0147 a0002c0002t0002g0190 others(3): Show |
6 | 244 | 0.0246 | -6 | c.883 others(25): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
ABTB2_chr11_34145987_34363010 | 34293623 | CTGAGAT | C | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG02486.hp2 others(3): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0018 | a0001c0001t0001a0002c0002t0002a0005c0018t0002 | a0001c0001t0001g0141 a0001c0001t0001g0147 a0002c0002t0002g0190 others(3): Show |
6 | 244 | 0.0246 | -6 | c.883 others(25): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
ABTB2_chr11_34145987_34363010 | 34306982 | TAAAAAA | T | intron_variant | MODIFIER | HG00544.hp2 HG00642.hp1 HG00642.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0025 a0001c0001t0001g0038 others(19): Show |
22 | 136 | 0.1618 | -6 | c.883 others(25): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
ABTB2_chr11_34145987_34363010 | 34359880 | GTGTAGA | G | upstream_gene_variant | MODIFIER | HG01891.hp1 NA19030.hp1 NA21309.hp2 |
a0001a0003 | a0001c0004a0001c0005a0003c0003 | a0001c0004t0001a0001c0005t0004a0003c0003t0008 | a0001c0004t0001g0149 a0001c0005t0004g0150 a0003c0003t0008g0148 |
3 | 244 | 0.0123 | -6 | c.-23 others(17): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1871 | chr11 | TogoVar | |||||||
ABTB2_chr11_34145987_34363010 | 34360525 | AATATAT | A | upstream_gene_variant | MODIFIER | HG01261.hp1 HG02055.hp2 HG02145.hp2 others(13): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0013others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(6): Show | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0067 others(13): Show |
16 | 129 | 0.1240 | -6 | c.-29 others(17): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 2516 | chr11 | TogoVar | |||||||
ABTB3_chr12_107313434_107664642 | 107313835 | CACAGAG | C | upstream_gene_variant | MODIFIER | HG01257.hp1 HG02486.hp1 HG02630.hp2 others(3): Show |
a0002a0003a0004others(3): Show | a0002c0009a0003c0004a0004c0005others(3): Show | a0002c0009t0001a0003c0004t0011a0004c0005t0013others(3): Show | a0002c0009t0001g0052 a0003c0004t0011g0155 a0004c0005t0013g0163 others(3): Show |
6 | 168 | 0.0357 | -6 | c.-51 others(17): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 4598 | chr12 | TogoVar | |||||||
ABTB3_chr12_107313434_107664642 | 107321626 | CACACAT | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp2 others(36): Show |
a0002a0005a0007others(2): Show | a0002c0002a0002c0009a0002c0015others(9): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0004others(23): Show | a0002c0002t0001g0045 a0002c0002t0003g0047 a0002c0002t0004g0044 others(36): Show |
39 | 186 | 0.2097 | -6 | c.113 others(25): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | chr12 | TogoVar | |||||||
ABTB3_chr12_107313434_107664642 | 107375422 | AATCATC | A | intron_variant | MODIFIER | HG01361.hp2 HG01884.hp1 HG02055.hp2 others(16): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0011a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(10): Show | a0001c0001t0001g0004 a0001c0001t0002g0093 a0001c0001t0002g0098 others(16): Show |
19 | 44 | 0.4318 | -6 | c.113 others(27): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107377414 | AGTGTGT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(102): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0003a0001c0011others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(52): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(102): Show |
105 | 112 | 0.9375 | -6 | c.113 others(27): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107389840 | GTGTGTT | G | intron_variant | MODIFIER | HG01884.hp1 HG02698.hp1 HG03139.hp2 others(1): Show |
a0001a0015 | a0001c0001a0001c0011a0015c0023 | a0001c0001t0001a0001c0001t0006a0001c0011t0006others(1): Show | a0001c0001t0001g0008 a0001c0001t0006g0100 a0001c0011t0006g0101 others(1): Show |
4 | 186 | 0.0215 | -6 | c.113 others(27): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107389846 | TTGTGTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(84): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0011others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(84): Show |
87 | 115 | 0.7565 | -6 | c.113 others(27): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107464206 | AGTGTGT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG01099.hp2 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0033others(2): Show | a0001c0001t0006a0002c0002t0007a0002c0033t0001others(2): Show | a0001c0001t0006g0074 a0002c0002t0007g0175 a0002c0002t0007g0176 others(3): Show |
6 | 13 | 0.4615 | -6 | c.113 others(27): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107469934 | CTTTCTT | C | intron_variant | MODIFIER | HG00140.hp1 HG01074.hp1 HG01168.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0015others(1): Show | a0001c0001t0001a0001c0001t0024a0002c0002t0010others(4): Show | a0001c0001t0001g0006 a0001c0001t0024g0071 a0002c0002t0010g0182 others(5): Show |
8 | 164 | 0.0488 | -6 | c.113 others(27): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107481883 | GTCTCTC | G | intron_variant | MODIFIER | NA18982.hp2 NA20129.hp2 |
a0001a0003 | a0001c0003a0003c0008 | a0001c0003t0006a0003c0008t0002 | a0001c0003t0006g0140 a0003c0008t0002g0087 |
2 | 18 | 0.1111 | -6 | c.113 others(27): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107521263 | TTGTGTG | T | intron_variant | MODIFIER | HG00423.hp2 HG02622.hp1 HG02717.hp1 others(7): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0012a0002c0002others(6): Show | a0001c0001t0001a0001c0012t0004a0002c0002t0004others(6): Show | a0001c0001t0001g0065 a0001c0012t0004g0039 a0002c0002t0004g0044 others(7): Show |
10 | 22 | 0.4545 | -6 | c.128 others(23): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107564088 | CTCTGTG | C | intron_variant | MODIFIER | HG01099.hp1 HG02055.hp2 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0024 | a0001c0001t0004g0030 a0001c0001t0004g0033 a0001c0001t0024g0071 |
3 | 147 | 0.0204 | -6 | c.149 others(27): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107564090 | CTGTGTG | C | intron_variant | MODIFIER | HG00099.hp2 HG01243.hp1 HG01496.hp2 others(3): Show |
a0001a0002a0014 | a0001c0001a0001c0003a0002c0009others(1): Show | a0001c0001t0002a0001c0003t0005a0002c0009t0003others(2): Show | a0001c0001t0002g0098 a0001c0003t0005g0133 a0001c0003t0005g0135 others(3): Show |
6 | 64 | 0.0938 | -6 | c.149 others(27): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107637786 | TTGTGTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG01081.hp1 others(12): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0011others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0016 a0001c0001t0002g0093 a0001c0001t0002g0105 others(12): Show |
15 | 33 | 0.4545 | -6 | c.273 others(25): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107643401 | TCAAAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG01074.hp1 others(22): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0010 others(22): Show |
25 | 184 | 0.1359 | -6 | c.292 others(25): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 14/16 | chr12 | TogoVar | |||||||
ABTB3_chr12_107313434_107664642 | 107643402 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp2 HG01099.hp1 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0012others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(10): Show | a0001c0001t0001g0011 a0001c0001t0004g0030 a0001c0001t0004g0031 others(16): Show |
19 | 101 | 0.1881 | -6 | c.292 others(25): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107654813 | TATACAC | T | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG03139.hp1 others(1): Show |
a0001a0003a0015 | a0001c0011a0003c0021a0015c0023 | a0001c0011t0004a0001c0011t0006a0003c0021t0006others(1): Show | a0001c0011t0004g0066 a0001c0011t0006g0101 a0003c0021t0006g0151 others(1): Show |
4 | 182 | 0.0220 | -6 | c.310 others(25): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107654815 | TACACAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp2 HG01175.hp2 others(28): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(28): Show |
31 | 72 | 0.4306 | -6 | c.310 others(25): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAA2_chr18_49777164_49818533 | 49803239 | AAATAAT | A | intron_variant | MODIFIER | HG01109.hp2 HG02258.hp1 HG02486.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0079 a0001c0001t0004g0022 a0001c0001t0004g0038 others(5): Show |
11 | 78 | 0.1410 | -6 | c.17- others(19): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37103722 | AACACAC | A | intron_variant | MODIFIER | HG01109.hp1 HG01168.hp1 HG01169.hp1 others(16): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0005others(2): Show | a0001c0001t0001g0179 a0001c0001t0001g0193 a0001c0003t0001g0130 others(16): Show |
19 | 101 | 0.1881 | -6 | c.656 others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 52/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37119589 | AACACAC | A | intron_variant | MODIFIER | HG00735.hp2 HG01255.hp2 HG01346.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0053 a0001c0001t0001g0139 a0001c0001t0001g0225 others(20): Show |
23 | 58 | 0.3966 | -6 | c.627 others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 50/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37177269 | CGTGTGT | C | intron_variant | MODIFIER | HG00609.hp2 HG03579.hp2 NA18943.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0193 a0001c0001t0001g0294 a0001c0009t0001g0262 |
3 | 103 | 0.0291 | -6 | c.507 others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37202710 | TATACAC | T | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00738.hp2 others(20): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0010a0001c0002t0001a0001c0002t0002others(7): Show | a0001c0001t0010g0094 a0001c0001t0010g0105 a0001c0002t0001g0056 others(20): Show |
23 | 296 | 0.0777 | -6 | c.405 others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 33/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37251111 | ATGCATT | A | intron_variant | MODIFIER | HG00733.hp1 HG01358.hp2 HG02647.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0005a0001c0004t0030a0001c0004t0032 | a0001c0004t0005g0044 a0001c0004t0005g0125 a0001c0004t0005g0276 others(2): Show |
5 | 298 | 0.0168 | -6 | c.208 others(23): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 16/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37260249 | CATATAT | C | intron_variant | MODIFIER | HG01070.hp2 HG01168.hp1 HG01261.hp1 others(14): Show |
a0001a0005 | a0001c0002a0001c0003a0001c0012others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0008others(3): Show | a0001c0002t0001g0056 a0001c0002t0001g0155 a0001c0002t0001g0156 others(14): Show |
17 | 247 | 0.0688 | -6 | c.133 others(23): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 11/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37260292 | ATATATT | A | intron_variant | MODIFIER | HG00408.hp1 HG02895.hp1 HG02896.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0022 | a0001c0002t0001g0085 a0001c0002t0001g0237 a0001c0002t0001g0258 others(4): Show |
7 | 246 | 0.0285 | -6 | c.133 others(23): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 11/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37268735 | ATCTATC | A | intron_variant | MODIFIER | HG02818.hp2 HG02965.hp1 HG02976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0027 | a0001c0001t0001g0293 a0001c0001t0002g0034 a0001c0001t0002g0035 others(1): Show |
4 | 297 | 0.0135 | -6 | c.111 others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 10/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37342406 | CAAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(47): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0144 a0001c0001t0001g0185 a0001c0001t0001g0197 others(47): Show |
50 | 210 | 0.2381 | -6 | c.39- others(21): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37342432 | AAAAAAT | A | intron_variant | MODIFIER | HG02145.hp1 HG02647.hp2 HG02809.hp2 others(3): Show |
a0001 | a0001c0004a0001c0006 | a0001c0004t0005a0001c0006t0005 | a0001c0004t0005g0044 a0001c0004t0005g0118 a0001c0004t0005g0119 others(3): Show |
6 | 293 | 0.0205 | -6 | c.39- others(21): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37390304 | TTATATA | T | intron_variant | MODIFIER | NA18964.hp2 NA18979.hp1 NA19000.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 a0001c0001t0001g0205 a0001c0001t0001g0206 others(1): Show |
4 | 197 | 0.0203 | -6 | c.38+ others(23): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109133240 | TTCTCTC | T | intron_variant | MODIFIER | HG02965.hp1 HG03579.hp2 NA18906.hp1 |
a0001a0002 | a0001c0016a0001c0069a0002c0092 | a0001c0016t0011a0001c0069t0002a0002c0092t0010 | a0001c0016t0011g0272 a0001c0069t0002g0204 a0002c0092t0010g0192 |
3 | 160 | 0.0188 | -6 | c.-9- others(21): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109137257 | GCAAATT | G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp1 others(32): Show |
a0001a0002a0004others(7): Show | a0001c0010a0001c0012a0001c0013others(17): Show | a0001c0010t0002a0001c0012t0002a0001c0013t0001others(18): Show | a0001c0010t0002g0259 a0001c0012t0002g0045 a0001c0012t0002g0248 others(32): Show |
35 | 306 | 0.1144 | -6 | c.-9- others(21): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109144750 | CTTTCTT | C | intron_variant | MODIFIER | HG01891.hp2 HG02976.hp1 HG03041.hp1 others(3): Show |
a0001a0002a0007others(2): Show | a0001c0105a0001c0106a0002c0006others(3): Show | a0001c0105t0004a0001c0106t0001a0002c0006t0005others(3): Show | a0001c0105t0004g0293 a0001c0106t0001g0291 a0002c0006t0005g0292 others(3): Show |
6 | 79 | 0.0759 | -6 | c.653 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109194610 | CTGTGTG | C | intron_variant | MODIFIER | HG00642.hp2 HG01109.hp2 HG02071.hp1 others(23): Show |
a0001a0004a0006others(5): Show | a0001c0064a0001c0095a0001c0098others(14): Show | a0001c0064t0009a0001c0095t0001a0001c0098t0001others(16): Show | a0001c0064t0009g0184 a0001c0095t0001g0133 a0001c0098t0001g0285 others(23): Show |
26 | 171 | 0.1520 | -6 | c.248 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 16/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109209932 | CACACAT | C | intron_variant | MODIFIER | HG01081.hp1 HG02074.hp2 NA18522.hp1 |
a0002a0004a0018 | a0002c0070a0004c0112a0018c0065 | a0002c0070t0005a0004c0112t0001a0018c0065t0005 | a0002c0070t0005g0200 a0004c0112t0001g0119 a0018c0065t0005g0225 |
3 | 283 | 0.0106 | -6 | c.324 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109210188 | CGTGTGT | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(59): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0003a0001c0010others(21): Show | a0001c0002t0001a0001c0003t0002a0001c0003t0004others(26): Show | a0001c0002t0001g0002 a0001c0002t0001g0081 a0001c0002t0001g0110 others(58): Show |
62 | 290 | 0.2138 | -6 | c.324 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | chr12 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109210225 | GTGTATA | G | intron_variant | MODIFIER | HG01261.hp2 HG02056.hp1 HG02074.hp2 others(1): Show |
a0004a0011a0022others(1): Show | a0004c0112a0011c0027a0022c0085others(1): Show | a0004c0112t0001a0011c0027t0004a0022c0085t0003others(1): Show | a0004c0112t0001g0119 a0011c0027t0004g0144 a0022c0085t0003g0238 others(1): Show |
4 | 302 | 0.0132 | -6 | c.324 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109210281 | ACATATC | A | intron_variant | MODIFIER | HG00673.hp1 HG01081.hp1 HG01109.hp2 others(9): Show |
a0001a0002a0003others(3): Show | a0001c0003a0001c0012a0001c0013others(7): Show | a0001c0003t0004a0001c0012t0002a0001c0013t0001others(8): Show | a0001c0003t0004g0075 a0001c0012t0002g0045 a0001c0012t0002g0248 others(9): Show |
12 | 306 | 0.0392 | -6 | c.324 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | chr12 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109210313 | ACATATC | A | intron_variant | MODIFIER | NA18992.hp2 NA19060.hp2 NA19066.hp1 |
a0003a0006a0008 | a0003c0001a0006c0078a0008c0044 | a0003c0001t0001a0006c0078t0001a0008c0044t0003 | a0003c0001t0001g0141 a0006c0078t0001g0181 a0008c0044t0003g0182 |
3 | 254 | 0.0118 | -6 | c.324 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | chr12 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109259577 | AAAAAAC | A | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG02717.hp1 others(4): Show |
a0001a0009 | a0001c0010a0001c0016a0001c0064others(1): Show | a0001c0010t0009a0001c0016t0009a0001c0016t0011others(2): Show | a0001c0010t0009g0188 a0001c0016t0009g0287 a0001c0016t0009g0288 others(4): Show |
7 | 306 | 0.0229 | -6 | c.649 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 47/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |