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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA13_chr7_48166458_48652497 | 48275201 | G | T | synonymous_variant | LOW | HG00735.hp1 HG00738.hp2 HG01123.hp2 others(29): Show |
a0004a0015a0024others(18): Show | a0004c0008a0004c0009a0004c0079others(22): Show | a0004c0008t0001a0004c0008t0004a0004c0008t0005others(26): Show | a0004c0008t0001g0149a0004c0008t0004g0167a0004c0008t0005g0169others(29): Show | 32 | 178 | 0.1798 | 0 | c.553 others(4): Show |
p.Gly others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 17/62 | 5561/17188 | 5535/15177 | 1845/5058 | chr7 | TogoVar | ||
ABCA13_chr7_48166458_48652497 | 48275279 | A | C | synonymous_variant | LOW | HG02280.hp2 HG02572.hp2 HG02965.hp2 others(1): Show |
a0025a0079a0080others(1): Show | a0025c0089a0079c0087a0080c0090others(1): Show | a0025c0089t0012a0079c0087t0002a0080c0090t0005others(1): Show | a0025c0089t0012g0154a0079c0087t0002g0153a0080c0090t0005g0104others(1): Show | 4 | 178 | 0.0225 | 0 | c.561 others(4): Show |
p.Ser others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 17/62 | 5639/17188 | 5613/15177 | 1871/5058 | chr7 | TogoVar | ||
ABCA13_chr7_48166458_48652497 | 48276344 | C | T | synonymous_variant | LOW | NA18956.hp2 NA19091.hp1 |
a0021 | a0021c0028 | a0021c0028t0003 | a0021c0028t0003g0005a0021c0028t0003g0011 | 2 | 178 | 0.0112 | 0 | c.667 others(4): Show |
p.Asn others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 17/62 | 6704/17188 | 6678/15177 | 2226/5058 | chr7 | TogoVar | ||
ABCA13_chr7_48166458_48652497 | 48276458 | A | G | synonymous_variant | LOW | HG02723.hp2 HG06807.hp1 |
a0057a0058 | a0057c0036a0058c0035 | a0057c0036t0007a0058c0035t0002 | a0057c0036t0007g0083a0058c0035t0002g0157 | 2 | 178 | 0.0112 | 0 | c.679 others(4): Show |
p.Thr others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 17/62 | 6818/17188 | 6792/15177 | 2264/5058 | chr7 | TogoVar | ||
ABCA13_chr7_48166458_48652497 | 48278844 | C | T | synonymous_variant | LOW | HG06807.hp1 | a0057 | a0057c0036 | a0057c0036t0007 | a0057c0036t0007g0083 | 1 | 178 | 0.0056 | 0 | c.765 others(4): Show |
p.Asp others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 18/62 | 7676/17188 | 7650/15177 | 2550/5058 | chr7 | TogoVar | ||
ABCA13_chr7_48166458_48652497 | 48297247 | C | T | synonymous_variant | LOW | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(138): Show |
a0001a0002a0003others(61): Show | a0001c0001a0001c0010a0001c0103others(82): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(102): Show | a0001c0001t0001g0004a0001c0001t0001g0027a0001c0001t0001g0040others(138): Show | 141 | 178 | 0.7921 | 0 | c.913 others(4): Show |
p.Leu others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 22/62 | 9161/17188 | 9135/15177 | 3045/5058 | chr7 | TogoVar | ||
ABCA13_chr7_48166458_48652497 | 48309967 | C | T | synonymous_variant | LOW | HG02523.hp2 | a0020 | a0020c0034 | a0020c0034t0003 | a0020c0034t0003g0117 | 1 | 178 | 0.0056 | 0 | c.934 others(4): Show |
p.Thr others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 24/62 | 9368/17188 | 9342/15177 | 3114/5058 | chr7 | TogoVar | ||
ABCA13_chr7_48166458_48652497 | 48314324 | C | T | synonymous_variant | LOW | HG02886.hp2 | a0055 | a0055c0049 | a0055c0049t0001 | a0055c0049t0001g0086 | 1 | 178 | 0.0056 | 0 | c.977 others(4): Show |
p.Ser others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 26/62 | 9800/17188 | 9774/15177 | 3258/5058 | chr7 | TogoVar | ||
ABCA13_chr7_48166458_48652497 | 48387904 | G | A | synonymous_variant | LOW | HG01975.hp2 HG01993.hp1 NA20300.hp1 |
a0011a0012a0031 | a0011c0044a0012c0043a0031c0092 | a0011c0044t0001a0012c0043t0002a0031c0092t0004 | a0011c0044t0001g0096a0012c0043t0002g0098a0031c0092t0004g0095 | 3 | 178 | 0.0169 | 0 | c.114 others(5): Show |
p.Arg others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 36/62 | 11444/17188 | 11418/15177 | 3806/5058 | chr7 | TogoVar | ||
ABCA13_chr7_48166458_48652497 | 48392059 | C | T | synonymous_variant | LOW | HG00408.hp1 | a0084 | a0084c0061 | a0084c0061t0004 | a0084c0061t0004g0013 | 1 | 178 | 0.0056 | 0 | c.117 others(5): Show |
p.Thr others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 38/62 | 11819/17188 | 11793/15177 | 3931/5058 | chr7 | TogoVar | ||
ABCA13_chr7_48166458_48652497 | 48403803 | T | C | synonymous_variant | LOW | HG02970.hp2 HG03195.hp1 |
a0034a0063 | a0034c0105a0063c0071 | a0034c0105t0005a0063c0071t0005 | a0034c0105t0005g0037a0063c0071t0005g0105 | 2 | 178 | 0.0112 | 0 | c.119 others(5): Show |
p.Val others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 39/62 | 12020/17188 | 11994/15177 | 3998/5058 | chr7 | TogoVar | ||
ABCA13_chr7_48166458_48652497 | 48410542 | C | T | synonymous_variant | LOW | HG01433.hp2 | a0001 | a0001c0104 | a0001c0104t0005 | a0001c0104t0005g0044 | 1 | 178 | 0.0056 | 0 | c.120 others(5): Show |
p.Thr others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/62 | 12119/17188 | 12093/15177 | 4031/5058 | chr7 | TogoVar | ||
ABCA13_chr7_48166458_48652497 | 48410560 | T | C | synonymous_variant | LOW | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(88): Show |
a0001a0002a0003others(54): Show | a0001c0010a0002c0022a0003c0003others(60): Show | a0001c0010t0001a0001c0010t0002a0002c0022t0002others(72): Show | a0001c0010t0001g0050a0001c0010t0001g0066a0001c0010t0002g0074others(88): Show | 91 | 178 | 0.5112 | 0 | c.121 others(5): Show |
p.Ala others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/62 | 12137/17188 | 12111/15177 | 4037/5058 | chr7 | TogoVar | ||
ABCA13_chr7_48166458_48652497 | 48455083 | C | G | synonymous_variant | LOW | HG02572.hp1 HG02895.hp1 HG02897.hp1 others(2): Show |
a0007a0014a0024others(1): Show | a0007c0102a0014c0047a0024c0027others(1): Show | a0007c0102t0001a0014c0047t0001a0024c0027t0001others(2): Show | a0007c0102t0001g0020a0014c0047t0001g0155a0024c0027t0001g0161others(2): Show | 5 | 178 | 0.0281 | 0 | c.126 others(5): Show |
p.Leu others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 43/62 | 12638/17188 | 12612/15177 | 4204/5058 | chr7 | TogoVar | ||
ABCA13_chr7_48166458_48652497 | 48467034 | A | G | synonymous_variant | LOW | HG02809.hp1 | a0050 | a0050c0054 | a0050c0054t0002 | a0050c0054t0002g0015 | 1 | 178 | 0.0056 | 0 | c.128 others(5): Show |
p.Leu others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 44/62 | 12920/17188 | 12894/15177 | 4298/5058 | chr7 | TogoVar | ||
ABCA13_chr7_48166458_48652497 | 48520070 | G | A | synonymous_variant | LOW | HG00735.hp2 HG02055.hp1 HG02109.hp1 others(17): Show |
a0001a0002a0004others(13): Show | a0001c0103a0002c0065a0004c0079others(13): Show | a0001c0103t0006a0002c0065t0006a0004c0079t0006others(15): Show | a0001c0103t0006g0059a0002c0065t0006g0128a0004c0079t0006g0147others(17): Show | 20 | 178 | 0.1124 | 0 | c.138 others(5): Show |
p.Lys others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 53/62 | 13853/17188 | 13827/15177 | 4609/5058 | chr7 | TogoVar | ||
ABCA13_chr7_48166458_48652497 | 48520100 | T | C | synonymous_variant | LOW | HG00735.hp2 HG02055.hp1 HG02109.hp1 others(17): Show |
a0001a0002a0004others(13): Show | a0001c0103a0002c0065a0004c0079others(13): Show | a0001c0103t0006a0002c0065t0006a0004c0079t0006others(15): Show | a0001c0103t0006g0059a0002c0065t0006g0128a0004c0079t0006g0147others(17): Show | 20 | 178 | 0.1124 | 0 | c.138 others(5): Show |
p.Cys others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 53/62 | 13883/17188 | 13857/15177 | 4619/5058 | chr7 | TogoVar | ||
ABCA13_chr7_48166458_48652497 | 48524317 | A | G | synonymous_variant | LOW | HG00735.hp2 HG02055.hp1 HG02055.hp2 others(20): Show |
a0001a0002a0004others(16): Show | a0001c0103a0002c0065a0004c0079others(16): Show | a0001c0103t0006a0002c0065t0006a0004c0079t0006others(18): Show | a0001c0103t0006g0059a0002c0065t0006g0128a0004c0079t0006g0147others(20): Show | 23 | 178 | 0.1292 | 0 | c.141 others(5): Show |
p.Arg others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 54/62 | 14147/17188 | 14121/15177 | 4707/5058 | chr7 | TogoVar | ||
ABCA13_chr7_48166458_48652497 | 48524380 | A | G | synonymous_variant | LOW | HG02622.hp1 | a0074 | a0074c0080 | a0074c0080t0013 | a0074c0080t0013g0158 | 1 | 178 | 0.0056 | 0 | c.141 others(5): Show |
p.Arg others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 54/62 | 14210/17188 | 14184/15177 | 4728/5058 | chr7 | TogoVar | ||
ABCA1_chr9_104776006_104933155 | 104785486 | A | C | synonymous_variant | LOW | HG03471.hp1 | a0019 | a0019c0106 | a0019c0106t0001 | a0019c0106t0001g0094 | 1 | 318 | 0.0031 | 0 | c.655 others(4): Show |
p.Ser others(7): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 49/50 | 6868/10408 | 6555/6786 | 2185/2261 | chr9 | TogoVar | ||
ABCA1_chr9_104776006_104933155 | 104785591 | C | T | synonymous_variant | LOW | HG01081.hp2 HG01109.hp1 HG02647.hp1 others(7): Show |
a0002a0003a0008others(2): Show | a0002c0024a0002c0032a0002c0085others(4): Show | a0002c0024t0008a0002c0032t0001a0002c0085t0008others(4): Show | a0002c0024t0008g0003a0002c0024t0008g0008a0002c0024t0008g0109others(7): Show | 10 | 318 | 0.0315 | 0 | c.645 others(4): Show |
p.Pro others(7): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 49/50 | 6763/10408 | 6450/6786 | 2150/2261 | chr9 | TogoVar | ||
ABCA1_chr9_104776006_104933155 | 104787941 | G | A | synonymous_variant | LOW | HG01099.hp1 HG01106.hp1 HG01192.hp2 others(32): Show |
a0002a0003a0004others(11): Show | a0002c0025a0002c0058a0002c0075others(21): Show | a0002c0025t0007a0002c0025t0008a0002c0025t0015others(25): Show | a0002c0025t0007g0237a0002c0025t0008g0285a0002c0025t0015g0283others(32): Show | 35 | 318 | 0.1101 | 0 | c.618 others(4): Show |
p.Gly others(7): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 46/50 | 6496/10408 | 6183/6786 | 2061/2261 | chr9 | TogoVar | ||
ABCA1_chr9_104776006_104933155 | 104788486 | C | T | synonymous_variant | LOW | NA19240.hp1 | a0002 | a0002c0074 | a0002c0074t0027 | a0002c0074t0027g0290 | 1 | 318 | 0.0031 | 0 | c.600 others(4): Show |
p.Gly others(7): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 45/50 | 6322/10408 | 6009/6786 | 2003/2261 | chr9 | TogoVar | ||
ABCA1_chr9_104776006_104933155 | 104791957 | G | A | synonymous_variant | LOW | HG02976.hp1 | a0002 | a0002c0075 | a0002c0075t0027 | a0002c0075t0027g0150 | 1 | 318 | 0.0031 | 0 | c.579 others(4): Show |
p.Cys others(7): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 43/50 | 6112/10408 | 5799/6786 | 1933/2261 | chr9 | TogoVar | ||
ABCA1_chr9_104776006_104933155 | 104791993 | A | G | synonymous_variant | LOW | HG01884.hp1 HG01891.hp2 HG02257.hp1 others(17): Show |
a0002a0004a0008others(5): Show | a0002c0033a0002c0057a0002c0078others(13): Show | a0002c0033t0002a0002c0033t0032a0002c0057t0001others(15): Show | a0002c0033t0002g0301a0002c0033t0032g0024a0002c0057t0001g0148others(17): Show | 20 | 318 | 0.0629 | 0 | c.576 others(4): Show |
p.Tyr others(7): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 43/50 | 6076/10408 | 5763/6786 | 1921/2261 | chr9 | TogoVar | ||
ABCA1_chr9_104776006_104933155 | 104796122 | G | A | synonymous_variant | LOW | NA18964.hp1 | a0014 | a0014c0054 | a0014c0054t0010 | a0014c0054t0010g0251 | 1 | 318 | 0.0031 | 0 | c.531 others(4): Show |
p.Thr others(7): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 39/50 | 5626/10408 | 5313/6786 | 1771/2261 | chr9 | TogoVar | ||
ABCA1_chr9_104776006_104933155 | 104798448 | G | A | synonymous_variant | LOW | HG03516.hp1 | a0004 | a0004c0099 | a0004c0099t0001 | a0004c0099t0001g0110 | 1 | 318 | 0.0031 | 0 | c.509 others(4): Show |
p.Tyr others(7): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 37/50 | 5407/10408 | 5094/6786 | 1698/2261 | chr9 | TogoVar | ||
ABCA1_chr9_104776006_104933155 | 104804649 | C | A | synonymous_variant | LOW | HG01071.hp2 | a0001 | a0001c0097 | a0001c0097t0001 | a0001c0097t0001g0106 | 1 | 318 | 0.0031 | 0 | c.453 others(4): Show |
p.Thr others(7): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 32/50 | 4849/10408 | 4536/6786 | 1512/2261 | chr9 | TogoVar | ||
ABCA1_chr9_104776006_104933155 | 104806265 | C | A | synonymous_variant | LOW | HG01884.hp1 HG02280.hp2 HG02451.hp1 others(13): Show |
a0002a0004a0008others(5): Show | a0002c0046a0002c0057a0002c0058others(11): Show | a0002c0046t0002a0002c0057t0001a0002c0058t0007others(12): Show | a0002c0046t0002g0154a0002c0057t0001g0148a0002c0058t0007g0143others(13): Show | 16 | 318 | 0.0503 | 0 | c.444 others(4): Show |
p.Gly others(7): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 31/50 | 4753/10408 | 4440/6786 | 1480/2261 | chr9 | TogoVar | ||
ABCA1_chr9_104776006_104933155 | 104806265 | C | T | synonymous_variant | LOW | NA18522.hp1 | a0002 | a0002c0059 | a0002c0059t0001 | a0002c0059t0001g0235 | 1 | 318 | 0.0031 | 0 | c.444 others(4): Show |
p.Gly others(7): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 31/50 | 4753/10408 | 4440/6786 | 1480/2261 | chr9 | TogoVar | ||
ABCA1_chr9_104776006_104933155 | 104806424 | C | T | synonymous_variant | LOW | HG00408.hp1 HG00423.hp2 HG00544.hp2 others(53): Show |
a0001a0003a0006others(6): Show | a0001c0005a0001c0108a0003c0002others(10): Show | a0001c0005t0001a0001c0005t0002a0001c0005t0004others(24): Show | a0001c0005t0001g0050a0001c0005t0002g0017a0001c0005t0002g0031others(53): Show | 56 | 318 | 0.1761 | 0 | c.428 others(4): Show |
p.Thr others(7): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 31/50 | 4594/10408 | 4281/6786 | 1427/2261 | chr9 | TogoVar | ||
ABCA1_chr9_104776006_104933155 | 104812679 | C | T | synonymous_variant | LOW | HG02109.hp2 HG02258.hp1 HG02895.hp2 others(9): Show |
a0002a0004a0005others(1): Show | a0002c0015a0002c0059a0004c0044others(2): Show | a0002c0015t0002a0002c0015t0004a0002c0015t0013others(7): Show | a0002c0015t0002g0315a0002c0015t0004g0004a0002c0015t0013g0305others(9): Show | 12 | 318 | 0.0377 | 0 | c.394 others(4): Show |
p.Gly others(7): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 28/50 | 4258/10408 | 3945/6786 | 1315/2261 | chr9 | TogoVar | ||
ABCA1_chr9_104776006_104933155 | 104816197 | C | T | synonymous_variant | LOW | HG01884.hp2 HG01891.hp2 HG01952.hp2 others(18): Show |
a0002a0004a0005others(3): Show | a0002c0017a0002c0024a0002c0032others(11): Show | a0002c0017t0002a0002c0017t0015a0002c0017t0026others(13): Show | a0002c0017t0002g0271a0002c0017t0015g0101a0002c0017t0026g0163others(18): Show | 21 | 318 | 0.0660 | 0 | c.368 others(4): Show |
p.Arg others(7): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 25/50 | 3997/10408 | 3684/6786 | 1228/2261 | chr9 | TogoVar | ||
ABCA1_chr9_104776006_104933155 | 104816248 | T | C | synonymous_variant | LOW | HG02109.hp1 HG02145.hp1 HG02300.hp1 others(16): Show |
a0011a0015a0017others(7): Show | a0011c0010a0015c0020a0017c0034others(7): Show | a0011c0010t0005a0011c0010t0037a0015c0020t0001others(9): Show | a0011c0010t0005g0097a0011c0010t0005g0169a0011c0010t0005g0255others(16): Show | 19 | 318 | 0.0598 | 0 | c.363 others(4): Show |
p.Glu others(7): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 25/50 | 3946/10408 | 3633/6786 | 1211/2261 | chr9 | TogoVar | ||
ABCA1_chr9_104776006_104933155 | 104818761 | G | A | synonymous_variant | LOW | HG01891.hp1 HG02109.hp2 HG02258.hp1 others(15): Show |
a0002a0004a0005others(1): Show | a0002c0015a0002c0031a0002c0033others(6): Show | a0002c0015t0002a0002c0015t0004a0002c0015t0013others(12): Show | a0002c0015t0002g0315a0002c0015t0004g0004a0002c0015t0013g0305others(15): Show | 18 | 318 | 0.0566 | 0 | c.336 others(4): Show |
p.Leu others(7): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 23/50 | 3677/10408 | 3364/6786 | 1122/2261 | chr9 | TogoVar | ||
ABCA1_chr9_104776006_104933155 | 104821467 | G | A | synonymous_variant | LOW | HG01952.hp2 HG02258.hp2 HG02486.hp2 |
a0002a0012 | a0002c0031a0012c0093 | a0002c0031t0001a0012c0093t0001 | a0002c0031t0001g0152a0002c0031t0001g0278a0012c0093t0001g0108 | 3 | 318 | 0.0094 | 0 | c.286 others(4): Show |
p.Thr others(6): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 20/50 | 3181/10408 | 2868/6786 | 956/2261 | chr9 | TogoVar | ||
ABCA1_chr9_104776006_104933155 | 104822510 | C | T | synonymous_variant | LOW | HG02622.hp2 HG02809.hp1 HG03579.hp2 |
a0004 | a0004c0112a0004c0113a0004c0114 | a0004c0112t0005a0004c0113t0002a0004c0114t0005 | a0004c0112t0005g0098a0004c0113t0002g0159a0004c0114t0005g0304 | 3 | 318 | 0.0094 | 0 | c.281 others(4): Show |
p.Gly others(6): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 19/50 | 3127/10408 | 2814/6786 | 938/2261 | chr9 | TogoVar | ||
ABCA1_chr9_104776006_104933155 | 104827089 | C | T | synonymous_variant | LOW | NA18978.hp1 NA18991.hp1 |
a0006 | a0006c0063a0006c0089 | a0006c0063t0003a0006c0089t0003 | a0006c0063t0003g0151a0006c0089t0003g0180 | 2 | 318 | 0.0063 | 0 | c.219 others(4): Show |
p.Gln others(6): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 16/50 | 2509/10408 | 2196/6786 | 732/2261 | chr9 | TogoVar | ||
ABCA1_chr9_104776006_104933155 | 104828991 | G | T | synonymous_variant | LOW | HG00099.hp2 HG00408.hp2 HG00423.hp2 others(136): Show |
a0001a0002a0003others(13): Show | a0001c0092a0002c0011a0002c0015others(44): Show | a0001c0092t0012a0002c0011t0004a0002c0011t0007others(93): Show | a0001c0092t0012g0220a0002c0011t0004g0112a0002c0011t0004g0213others(136): Show | 139 | 318 | 0.4371 | 0 | c.204 others(4): Show |
p.Ile others(6): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 15/50 | 2353/10408 | 2040/6786 | 680/2261 | chr9 | TogoVar | ||
ABCA1_chr9_104776006_104933155 | 104831702 | G | A | synonymous_variant | LOW | HG02280.hp1 HG03225.hp1 |
a0012a0032 | a0012c0105a0032c0104 | a0012c0105t0024a0032c0104t0005 | a0012c0105t0024g0217a0032c0104t0005g0168 | 2 | 318 | 0.0063 | 0 | c.163 others(4): Show |
p.Ser others(6): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 13/50 | 1948/10408 | 1635/6786 | 545/2261 | chr9 | TogoVar | ||
ABCA1_chr9_104776006_104933155 | 104831807 | T | C | synonymous_variant | LOW | HG02723.hp2 HG02965.hp2 |
a0002 | a0002c0032 | a0002c0032t0001 | a0002c0032t0001g0025a0002c0032t0001g0317 | 2 | 318 | 0.0063 | 0 | c.153 others(4): Show |
p.Leu others(6): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 13/50 | 1843/10408 | 1530/6786 | 510/2261 | chr9 | TogoVar | ||
ABCA1_chr9_104776006_104933155 | 104832706 | T | G | synonymous_variant | LOW | NA19080.hp2 | a0031 | a0031c0067 | a0031c0067t0006 | a0031c0067t0006g0223 | 1 | 318 | 0.0031 | 0 | c.137 others(4): Show |
p.Thr others(6): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 12/50 | 1690/10408 | 1377/6786 | 459/2261 | chr9 | TogoVar | ||
ABCA1_chr9_104776006_104933155 | 104840385 | C | T | synonymous_variant | LOW | HG00642.hp1 HG00741.hp2 HG01081.hp2 others(50): Show |
a0002a0004a0005others(8): Show | a0002c0046a0004c0087a0004c0112others(22): Show | a0002c0046t0002a0004c0087t0009a0004c0112t0005others(38): Show | a0002c0046t0002g0154a0004c0087t0009g0118a0004c0112t0005g0098others(50): Show | 53 | 318 | 0.1667 | 0 | c.948 others(3): Show |
p.Gly others(6): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 9/50 | 1261/10408 | 948/6786 | 316/2261 | chr9 | TogoVar | ||
ABCA1_chr9_104776006_104933155 | 104840397 | G | A | synonymous_variant | LOW | HG00408.hp1 HG00423.hp1 HG00544.hp2 others(34): Show |
a0001a0002a0004others(9): Show | a0001c0108a0001c0109a0002c0033others(17): Show | a0001c0108t0002a0001c0109t0001a0002c0033t0002others(26): Show | a0001c0108t0002g0113a0001c0109t0001g0232a0002c0033t0002g0301others(34): Show | 37 | 318 | 0.1164 | 0 | c.936 others(3): Show |
p.Pro others(6): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 9/50 | 1249/10408 | 936/6786 | 312/2261 | chr9 | TogoVar | ||
ABCA1_chr9_104776006_104933155 | 104858591 | T | C | synonymous_variant | LOW | HG02622.hp2 HG02809.hp1 HG03579.hp2 |
a0004 | a0004c0112a0004c0113a0004c0114 | a0004c0112t0005a0004c0113t0002a0004c0114t0005 | a0004c0112t0005g0098a0004c0113t0002g0159a0004c0114t0005g0304 | 3 | 318 | 0.0094 | 0 | c.651 others(3): Show |
p.Leu others(6): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 7/50 | 964/10408 | 651/6786 | 217/2261 | chr9 | TogoVar | ||
ABCA1_chr9_104776006_104933155 | 104861748 | C | T | synonymous_variant | LOW | HG00099.hp2 HG00423.hp1 HG00423.hp2 others(145): Show |
a0001a0002a0003others(18): Show | a0001c0035a0002c0011a0002c0017others(47): Show | a0001c0035t0004a0001c0035t0009a0002c0011t0004others(97): Show | a0001c0035t0004g0011a0001c0035t0009g0071a0002c0011t0004g0112others(145): Show | 148 | 318 | 0.4654 | 0 | c.474 others(3): Show |
p.Leu others(6): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 6/50 | 787/10408 | 474/6786 | 158/2261 | chr9 | TogoVar | ||
ABCA2_chr9_137002234_137033237 | 137009585 | A | G | synonymous_variant | LOW | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(218): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0003a0001c0007others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(41): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(140): Show | 221 | 320 | 0.6906 | 0 | c.669 others(4): Show |
p.Leu others(7): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 44/49 | 6787/8103 | 6690/7311 | 2230/2436 | chr9 | TogoVar | ||
ABCA2_chr9_137002234_137033237 | 137010270 | C | T | synonymous_variant | LOW | HG00642.hp1 HG01070.hp2 HG01071.hp2 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0006a0001c0005t0002g0069 | 6 | 320 | 0.0188 | 0 | c.627 others(4): Show |
p.Ala others(7): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 41/49 | 6373/8103 | 6276/7311 | 2092/2436 | chr9 | TogoVar | ||
ABCA2_chr9_137002234_137033237 | 137010665 | C | T | synonymous_variant | LOW | HG03225.hp2 | a0001 | a0001c0056 | a0001c0056t0001 | a0001c0056t0001g0186 | 1 | 320 | 0.0031 | 0 | c.612 others(4): Show |
p.Arg others(7): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 40/49 | 6226/8103 | 6129/7311 | 2043/2436 | chr9 | TogoVar | ||
ABCA2_chr9_137002234_137033237 | 137010689 | G | A | synonymous_variant | LOW | HG00099.hp2 HG01168.hp1 HG01168.hp2 others(22): Show |
a0001a0003 | a0001c0003a0001c0009a0001c0011others(5): Show | a0001c0003t0001a0001c0009t0001a0001c0011t0001others(5): Show | a0001c0003t0001g0015a0001c0003t0001g0041a0001c0003t0001g0051others(16): Show | 25 | 320 | 0.0781 | 0 | c.610 others(4): Show |
p.Ala others(7): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 40/49 | 6202/8103 | 6105/7311 | 2035/2436 | chr9 | TogoVar |