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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA10_chr17_69143007_69233824 | 69143827 | C | CAGT | downstream_gene_variant | MODIFIER | HG02451.hp2 HG03098.hp2 HG03225.hp1 others(2): Show |
a0008 | a0008c0009 | a0008c0009t0009 | a0008c0009t0009g0005 a0008c0009t0009g0227 a0008c0009t0009g0245 others(1): Show |
5 | 345 | 0.0145 | 3 | c.*49 others(14): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 4179 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69147216 | G | GTTT | downstream_gene_variant | MODIFIER | HG01433.hp2 HG02451.hp2 HG02572.hp1 others(6): Show |
a0004a0008 | a0004c0004a0008c0009 | a0004c0004t0003a0008c0009t0009 | a0004c0004t0003g0007 a0004c0004t0003g0235 a0008c0009t0009g0005 others(4): Show |
9 | 24 | 0.3750 | 3 | c.*16 others(14): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 790 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69172802 | G | GGTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(229): Show |
a0002a0003a0004others(14): Show | a0002c0002a0002c0015a0003c0003others(20): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(28): Show | a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0011 others(222): Show |
232 | 346 | 0.6705 | 3 | c.316 others(22): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 25/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69210081 | T | TTTA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00642.hp1 others(84): Show |
a0001a0003a0005others(5): Show | a0001c0001a0001c0034a0003c0028others(6): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(9): Show | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0015 others(82): Show |
87 | 265 | 0.3283 | 3 | c.100 others(22): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214936938 | G | GAAA | intron_variant | MODIFIER | HG01346.hp2 HG01891.hp1 HG01943.hp2 others(8): Show |
a0001a0003a0004 | a0001c0004a0001c0012a0001c0015others(3): Show | a0001c0004t0002a0001c0012t0004a0001c0012t0014others(4): Show | a0001c0004t0002g0137 a0001c0004t0002g0138 a0001c0012t0004g0039 others(8): Show |
11 | 136 | 0.0809 | 3 | c.754 others(20): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 51/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214940755 | T | TAGA | intron_variant | MODIFIER | HG02622.hp2 HG03471.hp1 NA19240.hp2 others(1): Show |
a0001a0009a0014 | a0001c0015a0009c0028a0014c0048 | a0001c0015t0009a0009c0028t0003a0014c0048t0003 | a0001c0015t0009g0006 a0009c0028t0003g0081 a0009c0028t0003g0083 others(1): Show |
4 | 196 | 0.0204 | 3 | c.743 others(22): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 50/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214943157 | A | AGAT | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01071.hp1 others(54): Show |
a0001a0002a0003others(7): Show | a0001c0004a0001c0005a0001c0009others(31): Show | a0001c0004t0003a0001c0005t0003a0001c0009t0003others(42): Show | a0001c0004t0003g0062 a0001c0005t0003g0077 a0001c0009t0003g0157 others(54): Show |
57 | 196 | 0.2908 | 3 | c.734 others(20): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 49/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214963923 | C | CAAA | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG01070.hp1 others(69): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0005others(32): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0020others(45): Show | a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0035 others(69): Show |
72 | 145 | 0.4966 | 3 | c.588 others(22): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 39/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214977880 | C | CTTT | intron_variant | MODIFIER | HG01243.hp2 HG01258.hp2 HG02071.hp2 others(5): Show |
a0001a0012 | a0001c0001a0001c0051a0012c0039 | a0001c0001t0002a0001c0001t0012a0001c0051t0004others(1): Show | a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0119 others(5): Show |
8 | 129 | 0.0620 | 3 | c.512 others(20): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 33/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214981942 | T | TTTA | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00438.hp2 others(44): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0022others(26): Show | a0001c0001t0002g0066 a0001c0002t0001g0027 a0001c0002t0001g0049 others(44): Show |
47 | 140 | 0.3357 | 3 | c.457 others(20): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 30/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214984094 | C | CTTT | intron_variant | MODIFIER | HG02451.hp2 HG02622.hp2 HG02896.hp2 others(8): Show |
a0001a0004a0009others(1): Show | a0001c0005a0001c0015a0004c0018others(2): Show | a0001c0005t0005a0001c0015t0007a0001c0015t0009others(3): Show | a0001c0005t0005g0109 a0001c0005t0005g0110 a0001c0005t0005g0111 others(8): Show |
11 | 160 | 0.0688 | 3 | c.416 others(20): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 28/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215016582 | C | CAAA | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02109.hp2 others(13): Show |
a0001a0002 | a0001c0005a0001c0010a0001c0012others(6): Show | a0001c0005t0005a0001c0010t0004a0001c0010t0009others(10): Show | a0001c0005t0005g0075 a0001c0005t0005g0109 a0001c0005t0005g0111 others(13): Show |
16 | 34 | 0.4706 | 3 | c.178 others(20): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 14/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215041551 | C | CAAA | intron_variant | MODIFIER | HG02280.hp2 HG02559.hp1 HG02572.hp1 others(16): Show |
a0002 | a0002c0007a0002c0008a0002c0013others(3): Show | a0002c0007t0002a0002c0007t0006a0002c0007t0017others(9): Show | a0002c0007t0002g0105 a0002c0007t0006g0175 a0002c0007t0006g0176 others(16): Show |
19 | 160 | 0.1188 | 3 | c.872 others(20): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 7/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215065297 | T | TAAA | intron_variant | MODIFIER | HG00423.hp2 HG00741.hp2 HG01070.hp2 others(16): Show |
a0001a0002a0005others(3): Show | a0001c0003a0001c0006a0001c0010others(7): Show | a0001c0003t0001a0001c0003t0002a0001c0006t0002others(8): Show | a0001c0003t0001g0033 a0001c0003t0001g0038 a0001c0003t0001g0121 others(16): Show |
19 | 46 | 0.4130 | 3 | c.164 others(20): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215070159 | C | CAAT | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00423.hp2 others(143): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0002a0001c0003others(55): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0020others(86): Show | a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0116 others(143): Show |
146 | 196 | 0.7449 | 3 | c.164 others(20): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215081495 | A | AAAG | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(112): Show |
a0001a0002a0004others(14): Show | a0001c0001a0001c0002a0001c0003others(38): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0013others(61): Show | a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0035 others(112): Show |
115 | 125 | 0.9200 | 3 | c.164 others(22): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215082043 | C | CTTT | intron_variant | MODIFIER | HG01346.hp2 HG01943.hp2 HG01978.hp2 others(2): Show |
a0001a0020 | a0001c0001a0001c0004a0001c0022others(1): Show | a0001c0001t0002a0001c0004t0002a0001c0022t0006others(1): Show | a0001c0001t0002g0170 a0001c0004t0002g0137 a0001c0004t0002g0138 others(2): Show |
5 | 13 | 0.3846 | 3 | c.164 others(22): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215086919 | T | TTTA | intron_variant | MODIFIER | HG01243.hp2 HG01258.hp2 HG01975.hp2 others(9): Show |
a0001a0002a0012 | a0001c0001a0001c0009a0001c0040others(4): Show | a0001c0001t0002a0001c0009t0001a0001c0009t0008others(6): Show | a0001c0001t0002g0025 a0001c0009t0001g0136 a0001c0009t0008g0188 others(9): Show |
12 | 14 | 0.8571 | 3 | c.164 others(22): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215103263 | C | CTTT | intron_variant | MODIFIER | HG02622.hp2 HG03471.hp1 HG03540.hp2 others(1): Show |
a0001a0002a0014 | a0001c0012a0001c0015a0002c0008others(1): Show | a0001c0012t0004a0001c0015t0009a0002c0008t0007others(1): Show | a0001c0012t0004g0039 a0001c0015t0009g0006 a0002c0008t0007g0005 others(1): Show |
4 | 159 | 0.0252 | 3 | c.163 others(20): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215112333 | A | ATTT | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02055.hp1 others(12): Show |
a0001a0002a0004others(2): Show | a0001c0045a0002c0007a0002c0008others(7): Show | a0001c0045t0004a0002c0007t0003a0002c0007t0006others(8): Show | a0001c0045t0004g0067 a0002c0007t0003g0017 a0002c0007t0003g0069 others(12): Show |
15 | 130 | 0.1154 | 3 | c.70- others(16): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215119734 | T | TAAA | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02132.hp1 others(11): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0004a0001c0009others(8): Show | a0001c0001t0012a0001c0004t0010a0001c0009t0008others(9): Show | a0001c0001t0012g0191 a0001c0001t0012g0192 a0001c0004t0010g0198 others(11): Show |
14 | 155 | 0.0903 | 3 | c.70- others(18): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215128566 | T | TTTC | intron_variant | MODIFIER | HG00140.hp2 HG00741.hp2 HG01123.hp2 others(88): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0004a0001c0005others(43): Show | a0001c0001t0012a0001c0004t0001a0001c0004t0010others(62): Show | a0001c0001t0012g0191 a0001c0001t0012g0192 a0001c0004t0001g0091 others(88): Show |
91 | 196 | 0.4643 | 3 | c.69+ others(18): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215131699 | A | ATCG | intron_variant | MODIFIER | HG02717.hp2 NA18906.hp1 |
a0001a0004 | a0001c0025a0004c0061 | a0001c0025t0015a0004c0061t0015 | a0001c0025t0015g0182 a0004c0061t0015g0181 |
2 | 190 | 0.0105 | 3 | c.69+ others(18): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215133149 | A | ATTT | intron_variant | MODIFIER | HG00423.hp1 HG01978.hp1 HG01978.hp2 others(2): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0002a0001c0002t0001a0001c0005t0001others(2): Show | a0001c0001t0002g0170 a0001c0002t0001g0156 a0001c0005t0001g0145 others(2): Show |
5 | 34 | 0.1471 | 3 | c.69+ others(18): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48178975 | C | CCAA | intron_variant | MODIFIER | HG01074.hp2 HG02083.hp1 HG02132.hp2 others(13): Show |
a0001a0005a0006others(11): Show | a0001c0001a0005c0023a0006c0005others(11): Show | a0001c0001t0001a0001c0001t0004a0005c0023t0003others(12): Show | a0001c0001t0001g0177 a0001c0001t0004g0049 a0005c0023t0003g0171 others(13): Show |
16 | 80 | 0.2000 | 3 | c.69+ others(18): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | chr7 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48219883 | A | ACAC | intron_variant | MODIFIER | HG02258.hp2 HG02886.hp2 |
a0045a0058 | a0045c0041a0058c0049 | a0045c0041t0004a0058c0049t0001 | a0045c0041t0004g0039 a0058c0049t0001g0086 |
2 | 35 | 0.0571 | 3 | c.439 others(18): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 4/61 | chr7 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48232139 | A | ATTT | intron_variant | MODIFIER | HG00735.hp2 HG01167.hp1 HG01169.hp2 others(4): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0002c0065others(3): Show | a0001c0001t0004a0002c0002t0002a0002c0065t0006others(3): Show | a0001c0001t0004g0164 a0002c0002t0002g0156 a0002c0002t0002g0167 others(4): Show |
7 | 9 | 0.7778 | 3 | c.764 others(20): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 7/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48293192 | G | GCCC | intron_variant | MODIFIER | HG01192.hp1 HG01192.hp2 HG02145.hp1 others(9): Show |
a0001a0007a0009others(4): Show | a0001c0001a0001c0010a0007c0011others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0050 a0001c0001t0002g0066 a0001c0001t0002g0085 others(9): Show |
12 | 100 | 0.1200 | 3 | c.895 others(22): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 20/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48293204 | C | CCCA | intron_variant | MODIFIER | HG01070.hp1 HG03139.hp2 HG03654.hp2 |
a0001a0008a0017 | a0001c0001a0008c0032a0017c0095 | a0001c0001t0001a0008c0032t0002a0017c0095t0002 | a0001c0001t0001g0004 a0008c0032t0002g0047 a0017c0095t0002g0043 |
3 | 164 | 0.0183 | 3 | c.895 others(22): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 20/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48358211 | A | AAGG | intron_variant | MODIFIER | HG00408.hp1 HG00738.hp1 HG01123.hp1 others(11): Show |
a0001a0003a0004others(9): Show | a0001c0010a0003c0003a0004c0008others(9): Show | a0001c0010t0001a0003c0003t0004a0004c0008t0004others(10): Show | a0001c0010t0001g0054 a0003c0003t0004g0028 a0004c0008t0004g0166 others(11): Show |
14 | 175 | 0.0800 | 3 | c.106 others(24): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 31/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48431342 | A | AAAC | intron_variant | MODIFIER | HG00558.hp2 HG00738.hp1 HG01074.hp1 others(39): Show |
a0001a0005a0006others(22): Show | a0001c0001a0001c0103a0005c0007others(26): Show | a0001c0001t0001a0001c0103t0006a0005c0007t0002others(29): Show | a0001c0001t0001g0040 a0001c0001t0001g0064 a0001c0001t0001g0177 others(39): Show |
42 | 73 | 0.5753 | 3 | c.125 others(24): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 42/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48543864 | C | CATT | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp2 others(33): Show |
a0001a0002a0003others(24): Show | a0001c0001a0002c0002a0002c0022others(27): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(28): Show | a0001c0001t0004g0049 a0001c0001t0004g0164 a0002c0002t0004g0106 others(33): Show |
36 | 176 | 0.2045 | 3 | c.143 others(26): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48554822 | T | TTTA | intron_variant | MODIFIER | HG00735.hp2 HG02055.hp2 HG02109.hp1 others(8): Show |
a0001a0002a0004others(8): Show | a0001c0103a0002c0065a0004c0079others(8): Show | a0001c0103t0006a0002c0065t0006a0004c0079t0006others(8): Show | a0001c0103t0006g0059 a0002c0065t0006g0128 a0004c0079t0006g0147 others(8): Show |
11 | 128 | 0.0859 | 3 | c.143 others(26): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48565214 | C | CTTT | intron_variant | MODIFIER | HG00735.hp2 HG02109.hp2 HG02280.hp2 others(4): Show |
a0001a0002a0004others(4): Show | a0001c0103a0002c0065a0004c0079others(4): Show | a0001c0103t0006a0002c0065t0006a0004c0079t0006others(4): Show | a0001c0103t0006g0059 a0002c0065t0006g0128 a0004c0079t0006g0147 others(4): Show |
7 | 51 | 0.1373 | 3 | c.143 others(26): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48570319 | C | CTTT | intron_variant | MODIFIER | HG00558.hp2 HG00738.hp1 HG00741.hp2 others(15): Show |
a0005a0007a0009others(8): Show | a0005c0007a0005c0023a0007c0101others(11): Show | a0005c0007t0002a0005c0007t0003a0005c0023t0003others(13): Show | a0005c0007t0002g0129 a0005c0007t0003g0121 a0005c0007t0003g0137 others(15): Show |
18 | 108 | 0.1667 | 3 | c.143 others(24): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48589347 | T | TACC | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG03486.hp1 others(1): Show |
a0006a0014a0046others(1): Show | a0006c0024a0014c0076a0046c0067others(1): Show | a0006c0024t0001a0014c0076t0001a0046c0067t0009others(1): Show | a0006c0024t0001g0019 a0014c0076t0001g0021 a0046c0067t0009g0144 others(1): Show |
4 | 176 | 0.0227 | 3 | c.146 others(24): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 57/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48625517 | T | TTTA | intron_variant | MODIFIER | HG02280.hp1 HG02886.hp1 HG03486.hp1 others(2): Show |
a0007a0046a0069others(2): Show | a0007c0011a0046c0067a0069c0086others(2): Show | a0007c0011t0007a0046c0067t0009a0069c0086t0009others(2): Show | a0007c0011t0007g0165 a0046c0067t0009g0144 a0069c0086t0009g0160 others(2): Show |
5 | 176 | 0.0284 | 3 | c.148 others(26): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48625607 | A | ATGT | intron_variant | MODIFIER | NA18986.hp1 NA19011.hp2 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0063 |
3 | 176 | 0.0170 | 3 | c.148 others(26): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48629575 | C | CAAA | intron_variant | MODIFIER | HG01975.hp2 HG02083.hp2 HG02280.hp1 others(11): Show |
a0001a0003a0007others(9): Show | a0001c0103a0003c0004a0007c0011others(10): Show | a0001c0103t0006a0003c0004t0002a0007c0011t0007others(10): Show | a0001c0103t0006g0059 a0003c0004t0002g0035 a0007c0011t0007g0165 others(11): Show |
14 | 71 | 0.1972 | 3 | c.148 others(26): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48630817 | G | GTTT | intron_variant | MODIFIER | HG02280.hp1 HG02886.hp1 HG03486.hp1 others(2): Show |
a0007a0046a0069others(2): Show | a0007c0011a0046c0067a0069c0086others(2): Show | a0007c0011t0007a0046c0067t0009a0069c0086t0009others(2): Show | a0007c0011t0007g0165 a0046c0067t0009g0144 a0069c0086t0009g0160 others(2): Show |
5 | 59 | 0.0847 | 3 | c.148 others(26): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48637381 | C | CAAA | intron_variant | MODIFIER | HG01074.hp2 HG01433.hp1 HG02280.hp1 others(4): Show |
a0001a0036a0046others(2): Show | a0001c0001a0036c0081a0046c0067others(2): Show | a0001c0001t0001a0036c0081t0001a0046c0067t0009others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0064 a0001c0001t0001g0177 others(4): Show |
7 | 59 | 0.1186 | 3 | c.148 others(24): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48646525 | A | ATTT | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp2 others(21): Show |
a0001a0002a0003others(13): Show | a0001c0001a0002c0002a0002c0022others(15): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(15): Show | a0001c0001t0004g0049 a0001c0001t0004g0164 a0002c0002t0004g0106 others(21): Show |
24 | 170 | 0.1412 | 3 | c.*10 others(14): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 62/62 | 1026 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48648504 | A | ACAT | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(156): Show |
a0001a0002a0003others(73): Show | a0001c0001a0001c0010a0001c0103others(98): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(118): Show | a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0040 others(156): Show |
159 | 176 | 0.9034 | 3 | c.*29 others(14): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1008 | chr7 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104779621 | G | GTTT | downstream_gene_variant | MODIFIER | HG02258.hp2 HG02486.hp2 HG02615.hp2 others(6): Show |
a0001a0002a0004others(4): Show | a0001c0035a0002c0015a0002c0031others(5): Show | a0001c0035t0004a0002c0015t0031a0002c0031t0001others(5): Show | a0001c0035t0004g0012 a0002c0015t0031g0085 a0002c0031t0001g0155 others(6): Show |
9 | 87 | 0.1034 | 3 | c.*46 others(14): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1384 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104794512 | T | TAAA | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(139): Show |
a0001a0003a0005others(12): Show | a0001c0001a0001c0005a0001c0035others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(76): Show | a0001c0001t0001g0056 a0001c0001t0001g0078 a0001c0001t0001g0083 others(139): Show |
142 | 164 | 0.8659 | 3 | c.538 others(16): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 39/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104831149 | T | TAAA | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG02027.hp2 others(13): Show |
a0003a0006a0007others(2): Show | a0003c0009a0006c0004a0006c0012others(3): Show | a0003c0009t0003a0006c0004t0002a0006c0004t0003others(10): Show | a0003c0009t0003g0074 a0006c0004t0002g0133 a0006c0004t0003g0245 others(13): Show |
16 | 109 | 0.1468 | 3 | c.171 others(18): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 13/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104839517 | G | GTTT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00544.hp2 others(35): Show |
a0001a0002a0004others(9): Show | a0001c0108a0001c0109a0002c0033others(18): Show | a0001c0108t0002a0001c0109t0001a0002c0033t0002others(27): Show | a0001c0108t0002g0114 a0001c0109t0001g0287 a0002c0033t0002g0302 others(35): Show |
38 | 316 | 0.1203 | 3 | c.105 others(20): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 9/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104839521 | T | TTTG | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00558.hp1 others(100): Show |
a0002a0003a0004others(14): Show | a0002c0011a0002c0015a0002c0024others(38): Show | a0002c0011t0004a0002c0011t0007a0002c0011t0012others(69): Show | a0002c0011t0004g0177 a0002c0011t0004g0269 a0002c0011t0007g0119 others(99): Show |
103 | 316 | 0.3259 | 3 | c.105 others(20): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 9/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104860755 | C | CTTT | intron_variant | MODIFIER | HG00741.hp2 HG01255.hp2 HG01346.hp1 others(11): Show |
a0002a0003a0008others(2): Show | a0002c0017a0002c0025a0002c0032others(7): Show | a0002c0017t0026a0002c0025t0008a0002c0025t0015others(8): Show | a0002c0017t0026g0190 a0002c0017t0026g0209 a0002c0025t0008g0199 others(11): Show |
14 | 147 | 0.0952 | 3 | c.543 others(18): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 6/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104862689 | C | CCCA | intron_variant | MODIFIER | HG00738.hp2 HG01261.hp1 HG01952.hp1 others(2): Show |
a0001a0002a0004 | a0001c0001a0002c0037a0004c0008others(1): Show | a0001c0001t0001a0002c0037t0001a0004c0008t0004others(1): Show | a0001c0001t0001g0078 a0001c0001t0001g0273 a0002c0037t0001g0189 others(2): Show |
5 | 209 | 0.0239 | 3 | c.422 others(18): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar |