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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA12_chr2_214926542_215143626 | 214950414 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG02622.hp2 NA19240.hp2 NA20129.hp1 |
a0008a0019 | a0008c0028a0019c0047 | a0008c0028t0003a0019c0047t0003 | a0008c0028t0003g0081a0008c0028t0003g0083a0019c0047t0003g0052 | 3 | 198 | 0.0152 | -8 | c.685 others(25): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 45/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 214981955 | TTATTATT others(1): Show |
T | intron_variant | MODIFIER | HG01517.hp1 HG03490.hp2 HG03492.hp1 others(1): Show |
a0001a0003 | a0001c0011a0001c0031a0003c0065 | a0001c0011t0005a0001c0031t0005a0003c0065t0001 | a0001c0011t0005g0088a0001c0011t0005g0089a0001c0031t0005g0158others(1): Show | 4 | 198 | 0.0202 | -8 | c.457 others(25): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 30/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 214981958 | TTATTATT others(1): Show |
T | intron_variant | MODIFIER | HG01123.hp2 HG01243.hp2 HG01255.hp1 others(11): Show |
a0001a0002a0003others(2): Show | a0001c0009a0001c0010a0001c0011others(7): Show | a0001c0009t0003a0001c0010t0009a0001c0011t0001others(7): Show | a0001c0009t0003g0157a0001c0010t0009g0001a0001c0011t0001g0085others(11): Show | 14 | 198 | 0.0707 | -8 | c.457 others(25): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 30/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 214981961 | TTATTATT others(1): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG02055.hp1 HG02280.hp2 others(9): Show |
a0001a0002a0004others(1): Show | a0001c0005a0001c0009a0001c0010others(5): Show | a0001c0005t0001a0001c0009t0008a0001c0009t0010others(7): Show | a0001c0005t0001g0125a0001c0009t0008g0188a0001c0009t0008g0189others(9): Show | 12 | 198 | 0.0606 | -8 | c.457 others(25): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 30/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 214989187 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG02886.hp1 HG03579.hp2 |
a0002a0021 | a0002c0017a0021c0037 | a0002c0017t0009a0021c0037t0004 | a0002c0017t0009g0007a0021c0037t0004g0023 | 2 | 198 | 0.0101 | -8 | c.382 others(25): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 26/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215051609 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02622.hp1 HG02647.hp1 others(3): Show |
a0002a0005 | a0002c0007a0002c0056a0002c0058others(1): Show | a0002c0007t0003a0002c0007t0004a0002c0056t0004others(2): Show | a0002c0007t0003g0017a0002c0007t0003g0069a0002c0007t0004g0149others(3): Show | 6 | 198 | 0.0303 | -8 | c.507 others(23): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 5/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215064688 | TACACGCA others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02572.hp2 HG02630.hp1 others(4): Show |
a0001a0004a0005others(2): Show | a0001c0012a0004c0060a0005c0062others(4): Show | a0001c0012t0004a0004c0060t0006a0005c0062t0004others(4): Show | a0001c0012t0004g0065a0004c0060t0006g0080a0005c0062t0004g0078others(4): Show | 7 | 198 | 0.0354 | -8 | c.164 others(23): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215064693 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG02523.hp2 HG02572.hp1 HG02630.hp2 |
a0001a0002 | a0001c0006a0001c0010a0002c0007 | a0001c0006t0002a0001c0010t0003a0002c0007t0002 | a0001c0006t0002g0116a0001c0010t0003g0143a0002c0007t0002g0105 | 3 | 198 | 0.0152 | -8 | c.164 others(23): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215133149 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG02109.hp2 HG02280.hp1 others(5): Show |
a0001a0018a0020 | a0001c0005a0001c0010a0001c0043others(3): Show | a0001c0005t0003a0001c0005t0005a0001c0010t0004others(4): Show | a0001c0005t0003g0077a0001c0005t0005g0075a0001c0010t0004g0113others(5): Show | 8 | 198 | 0.0404 | -8 | c.69+ others(23): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215134398 | GTGTATAT others(1): Show |
G | intron_variant | MODIFIER | HG02717.hp2 HG02895.hp1 HG02897.hp2 others(1): Show |
a0001a0002a0004 | a0001c0025a0002c0017a0004c0061 | a0001c0025t0015a0002c0017t0016a0004c0061t0015 | a0001c0025t0015g0182a0002c0017t0016g0179a0002c0017t0016g0180others(1): Show | 4 | 198 | 0.0202 | -8 | c.69+ others(23): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215134577 | ATCTCTCT others(1): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02258.hp2 others(4): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0033a0002c0013others(3): Show | a0001c0001t0012a0001c0033t0026a0002c0013t0008others(3): Show | a0001c0001t0012g0191a0001c0001t0012g0192a0001c0033t0026g0193others(4): Show | 7 | 198 | 0.0354 | -8 | c.69+ others(23): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48172797 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp2 HG02970.hp2 others(3): Show |
a0003a0034 | a0003c0003a0003c0004a0034c0105 | a0003c0003t0004a0003c0004t0001a0003c0004t0002others(1): Show | a0003c0003t0004g0034a0003c0003t0004g0036a0003c0004t0001g0033others(3): Show | 6 | 178 | 0.0337 | -8 | c.69+ others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48180921 | GAAACAAA others(1): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01975.hp2 HG01993.hp1 others(14): Show |
a0005a0008a0009others(10): Show | a0005c0005a0008c0013a0009c0012others(12): Show | a0005c0005t0003a0008c0013t0002a0009c0012t0002others(12): Show | a0005c0005t0003g0090a0005c0005t0003g0102a0005c0005t0003g0103others(14): Show | 17 | 178 | 0.0955 | -8 | c.69+ others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48219883 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp2 HG01192.hp2 others(10): Show |
a0001a0003a0009others(7): Show | a0001c0010a0003c0003a0003c0004others(8): Show | a0001c0010t0002a0003c0003t0004a0003c0004t0001others(8): Show | a0001c0010t0002g0074a0003c0003t0004g0034a0003c0003t0004g0036others(10): Show | 13 | 178 | 0.0730 | -8 | c.439 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 4/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48225109 | GTGCCTGC others(1): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01123.hp2 HG01516.hp1 others(2): Show |
a0010a0011a0012others(1): Show | a0010c0033a0011c0017a0012c0045others(1): Show | a0010c0033t0003a0011c0017t0003a0012c0045t0002others(1): Show | a0010c0033t0003g0060a0011c0017t0003g0067a0012c0045t0002g0075others(2): Show | 5 | 178 | 0.0281 | -8 | c.469 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 5/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48225131 | GCCTGCCT others(1): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02280.hp2 others(4): Show |
a0002a0014a0025others(3): Show | a0002c0002a0014c0047a0025c0089others(3): Show | a0002c0002t0002a0014c0047t0001a0025c0089t0012others(3): Show | a0002c0002t0002g0156a0002c0002t0002g0168a0014c0047t0001g0155others(4): Show | 7 | 178 | 0.0393 | -8 | c.469 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 5/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48225135 | GCCTTCCT others(1): Show |
G | intron_variant | MODIFIER | HG03654.hp1 NA20129.hp2 |
a0012a0088 | a0012c0016a0088c0037 | a0012c0016t0001a0088c0037t0005 | a0012c0016t0001g0087a0088c0037t0005g0092 | 2 | 178 | 0.0112 | -8 | c.469 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 5/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48241252 | TCTGGATG others(1): Show |
T | intron_variant | MODIFIER | HG02723.hp2 HG06807.hp1 |
a0057a0058 | a0057c0036a0058c0035 | a0057c0036t0007a0058c0035t0002 | a0057c0036t0007g0083a0058c0035t0002g0157 | 2 | 178 | 0.0112 | -8 | c.126 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 10/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48286486 | CCCTTCCT others(1): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02258.hp1 others(4): Show |
a0028a0029a0057others(2): Show | a0028c0015a0029c0014a0057c0036others(2): Show | a0028c0015t0004a0029c0014t0005a0029c0014t0010others(3): Show | a0028c0015t0004g0173a0028c0015t0004g0176a0029c0014t0005g0119others(4): Show | 7 | 178 | 0.0393 | -8 | c.883 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48289736 | TGACTCAA others(1): Show |
T | intron_variant | MODIFIER | HG02886.hp2 HG06807.hp2 |
a0054a0055 | a0054c0048a0055c0049 | a0054c0048t0004a0055c0049t0001 | a0054c0048t0004g0159a0055c0049t0001g0086 | 2 | 178 | 0.0112 | -8 | c.895 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 20/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48330030 | TATCCATC others(1): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00735.hp2 others(71): Show |
a0001a0002a0003others(38): Show | a0001c0001a0001c0010a0001c0103others(47): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(54): Show | a0001c0001t0001g0040a0001c0001t0001g0042a0001c0001t0001g0058others(71): Show | 74 | 178 | 0.4157 | -8 | c.100 others(29): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 27/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48330737 | ACATCCAT others(1): Show |
A | intron_variant | MODIFIER | HG02083.hp1 HG03041.hp1 HG03492.hp2 others(1): Show |
a0003a0008a0014others(1): Show | a0003c0004a0008c0013a0014c0019others(1): Show | a0003c0004t0001a0008c0013t0001a0014c0019t0002others(1): Show | a0003c0004t0001g0033a0008c0013t0001g0111a0014c0019t0002g0136others(1): Show | 4 | 178 | 0.0225 | -8 | c.100 others(29): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 27/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48368687 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG02083.hp1 NA19083.hp1 |
a0006a0085 | a0006c0023a0085c0060 | a0006c0023t0003a0085c0060t0001 | a0006c0023t0003g0138a0085c0060t0001g0100 | 2 | 178 | 0.0112 | -8 | c.108 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 32/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48410977 | CTCTTTCT others(1): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG02723.hp1 HG02809.hp1 others(6): Show |
a0001a0010a0022others(4): Show | a0001c0001a0010c0031a0022c0020others(4): Show | a0001c0001t0001a0001c0001t0006a0010c0031t0003others(5): Show | a0001c0001t0001g0042a0001c0001t0001g0058a0001c0001t0006g0178others(6): Show | 9 | 178 | 0.0506 | -8 | c.122 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48558169 | CCCTCCCT others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp2 others(27): Show |
a0001a0002a0003others(18): Show | a0001c0001a0002c0002a0002c0022others(21): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(22): Show | a0001c0001t0004g0057a0001c0001t0004g0164a0002c0002t0004g0106others(27): Show | 30 | 178 | 0.1685 | -8 | c.143 others(31): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48563794 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02258.hp1 HG02572.hp2 others(10): Show |
a0019a0022a0027others(7): Show | a0019c0030a0022c0020a0027c0021others(7): Show | a0019c0030t0003a0022c0020t0001a0022c0020t0005others(9): Show | a0019c0030t0003g0038a0022c0020t0001g0007a0022c0020t0005g0123others(10): Show | 13 | 178 | 0.0730 | -8 | c.143 others(31): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48599918 | ACAGCAAG others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(130): Show |
a0001a0002a0003others(69): Show | a0001c0001a0001c0010a0001c0103others(89): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(102): Show | a0001c0001t0002g0054a0001c0001t0002g0065a0001c0001t0002g0085others(130): Show | 133 | 178 | 0.7472 | -8 | c.147 others(29): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 58/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48624059 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02895.hp1 HG02897.hp2 |
a0024a0040a0080 | a0024c0027a0040c0111a0080c0090 | a0024c0027t0006a0040c0111t0006a0080c0090t0005 | a0024c0027t0006g0162a0040c0111t0006g0031a0080c0090t0005g0104 | 3 | 178 | 0.0169 | -8 | c.148 others(29): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48633931 | CATAGATA others(1): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01192.hp1 HG01433.hp2 others(8): Show |
a0001a0002a0007others(6): Show | a0001c0001a0001c0104a0002c0002others(7): Show | a0001c0001t0001a0001c0104t0005a0002c0002t0001others(7): Show | a0001c0001t0001g0042a0001c0001t0001g0058a0001c0104t0005g0044others(8): Show | 11 | 178 | 0.0618 | -8 | c.148 others(29): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA1_chr9_104776006_104933155 | 104799394 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG01081.hp2 others(12): Show |
a0004a0005a0007others(2): Show | a0004c0008a0004c0113a0005c0070others(6): Show | a0004c0008t0003a0004c0113t0002a0005c0070t0001others(11): Show | a0004c0008t0003g0289a0004c0113t0002g0159a0005c0070t0001g0316others(12): Show | 15 | 318 | 0.0472 | -8 | c.494 others(25): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 36/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104807845 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02723.hp2 others(8): Show |
a0002a0004a0008 | a0002c0024a0002c0032a0004c0008others(4): Show | a0002c0024t0008a0002c0032t0001a0004c0008t0003others(4): Show | a0002c0024t0008g0003a0002c0024t0008g0008a0002c0024t0008g0109others(8): Show | 11 | 318 | 0.0346 | -8 | c.427 others(27): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 30/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104810141 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02895.hp2 others(9): Show |
a0002a0004a0005others(1): Show | a0002c0015a0002c0032a0002c0037others(5): Show | a0002c0015t0013a0002c0032t0001a0002c0037t0001others(7): Show | a0002c0015t0013g0305a0002c0015t0013g0306a0002c0032t0001g0025others(9): Show | 12 | 318 | 0.0377 | -8 | c.417 others(25): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 29/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104829943 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01169.hp1 HG01515.hp2 HG01517.hp1 others(10): Show |
a0002a0007a0011others(2): Show | a0002c0017a0002c0024a0002c0025others(6): Show | a0002c0017t0002a0002c0024t0008a0002c0025t0007others(7): Show | a0002c0017t0002g0271a0002c0024t0008g0003a0002c0024t0008g0008others(10): Show | 13 | 318 | 0.0409 | -8 | c.189 others(25): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 14/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104898549 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00558.hp1 others(70): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0035a0001c0092others(36): Show | a0001c0001t0006a0001c0001t0011a0001c0001t0012others(56): Show | a0001c0001t0006g0047a0001c0001t0006g0054a0001c0001t0006g0058others(70): Show | 73 | 318 | 0.2296 | -8 | c.66+ others(23): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104909607 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01978.hp2 HG02155.hp2 HG02257.hp2 others(15): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0011a0002c0017others(15): Show | a0001c0001t0001a0002c0011t0004a0002c0017t0026others(15): Show | a0001c0001t0001g0291a0002c0011t0004g0263a0002c0017t0026g0276others(15): Show | 18 | 318 | 0.0566 | -8 | c.-92 others(25): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104932859 | TGCCTAAT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG02300.hp1 NA20805.hp1 |
a0001a0003a0034 | a0001c0001a0003c0009a0034c0103 | a0001c0001t0004a0003c0009t0003a0034c0103t0007 | a0001c0001t0004g0194a0003c0009t0003g0209a0034c0103t0007g0240 | 3 | 318 | 0.0094 | -8 | c.-50 others(19): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 4705 | chr9 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2289961 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG02698.hp2 HG03017.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0138a0001c0002t0001g0141a0001c0002t0001g0168 | 3 | 252 | 0.0119 | -8 | c.251 others(25): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2336597 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG02486.hp2 HG02622.hp1 others(8): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(4): Show | a0001c0001t0001g0188a0001c0001t0001g0189a0001c0001t0004g0006others(8): Show | 11 | 252 | 0.0437 | -8 | c.-53 others(27): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2343708 | CCTATCTA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(67): Show |
a0001a0005a0008others(1): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0001g0052a0001c0001t0001g0054a0001c0001t0001g0069others(67): Show | 70 | 252 | 0.2778 | -8 | c.-36 others(19): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 2981 | chr16 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94091579 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG00738.hp2 others(26): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0009others(9): Show | a0001c0001t0001a0001c0004t0002a0001c0009t0001others(9): Show | a0001c0001t0001g0019a0001c0001t0001g0056a0001c0001t0001g0057others(25): Show | 29 | 306 | 0.0948 | -8 | c.768 others(25): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 6/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94115682 | AAGCACAA others(1): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02615.hp2 others(12): Show |
a0001a0003a0006others(5): Show | a0001c0004a0001c0006a0001c0007others(10): Show | a0001c0004t0001a0001c0006t0001a0001c0007t0001others(10): Show | a0001c0004t0001g0036a0001c0006t0001g0039a0001c0007t0001g0064others(12): Show | 15 | 306 | 0.0490 | -8 | c.67- others(23): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94116968 | CTCTTTCT others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG02027.hp2 others(3): Show |
a0003a0004a0005others(3): Show | a0003c0033a0004c0039a0005c0042others(3): Show | a0003c0033t0001a0004c0039t0001a0005c0042t0001others(3): Show | a0003c0033t0001g0186a0004c0039t0001g0118a0005c0042t0001g0114others(3): Show | 6 | 306 | 0.0196 | -8 | c.67- others(23): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94124141 | CTTTTTTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00621.hp2 others(71): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0003a0001c0004others(27): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(28): Show | a0001c0001t0001g0003a0001c0001t0001g0139a0001c0001t0001g0148others(70): Show | 74 | 306 | 0.2418 | -8 | c.-31 others(19): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 2994 | chr1 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69288719 | GAAGAAAG others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00642.hp1 others(44): Show |
a0001a0003a0006 | a0001c0002a0003c0003a0006c0009 | a0001c0002t0013a0003c0003t0003a0003c0003t0015others(3): Show | a0001c0002t0013g0052a0001c0002t0013g0074a0003c0003t0003g0001others(43): Show | 47 | 350 | 0.1343 | -8 | c.190 others(25): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 14/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69293865 | TGTGTGTG others(1): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG01109.hp1 HG01192.hp1 others(23): Show |
a0001a0002a0012 | a0001c0002a0001c0004a0001c0010others(3): Show | a0001c0002t0001a0001c0004t0017a0001c0010t0010others(5): Show | a0001c0002t0001g0093a0001c0004t0017g0323a0001c0010t0010g0332others(23): Show | 26 | 350 | 0.0743 | -8 | c.149 others(25): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 11/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69298229 | TAGGAAGG others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG01346.hp1 HG03209.hp2 |
a0001a0004 | a0001c0004a0001c0022a0004c0005 | a0001c0004t0003a0001c0022t0003a0004c0005t0003 | a0001c0004t0003g0166a0001c0022t0003g0315a0004c0005t0003g0212 | 3 | 350 | 0.0086 | -8 | c.126 others(25): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69298277 | AAGGAAGG others(1): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG03471.hp1 NA20129.hp1 |
a0001a0005 | a0001c0004a0005c0007 | a0001c0004t0017a0005c0007t0006 | a0001c0004t0017g0323a0005c0007t0006g0340a0005c0007t0006g0342 | 3 | 350 | 0.0086 | -8 | c.126 others(25): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69298281 | AAGGGAGG others(1): Show |
A | intron_variant | MODIFIER | HG02132.hp2 NA18994.hp2 NA18999.hp1 others(1): Show |
a0002a0015 | a0002c0001a0015c0023 | a0002c0001t0002a0015c0023t0002 | a0002c0001t0002g0213a0002c0001t0002g0267a0002c0001t0002g0280others(1): Show | 4 | 350 | 0.0114 | -8 | c.126 others(25): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69298316 | GAGGAAGG others(1): Show |
G | intron_variant | MODIFIER | HG01346.hp1 HG01884.hp2 HG02922.hp2 |
a0001 | a0001c0004 | a0001c0004t0003a0001c0004t0008a0001c0004t0026 | a0001c0004t0003g0166a0001c0004t0008g0167a0001c0004t0026g0165 | 3 | 350 | 0.0086 | -8 | c.126 others(25): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69143833 | GTAGATAG others(1): Show |
G | upstream_gene_variant | MODIFIER | HG02523.hp2 HG03471.hp2 HG03834.hp2 others(3): Show |
a0002a0004a0005others(1): Show | a0002c0002a0002c0019a0004c0004others(2): Show | a0002c0002t0002a0002c0019t0002a0004c0004t0002others(2): Show | a0002c0002t0002g0208a0002c0019t0002g0188a0004c0004t0002g0143others(2): Show | 6 | 326 | 0.0184 | -8 | c.-21 others(19): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 1939 | chr17 | TogoVar |