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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA12_chr2_214926542_215143626 | 215064689 | ACACG | A | intron_variant | MODIFIER | HG02486.hp1 HG02818.hp1 NA18522.hp2 |
a0003 | a0003c0014a0003c0020 | a0003c0014t0002a0003c0014t0006a0003c0020t0001 | a0003c0014t0002g0101 a0003c0014t0006g0102 a0003c0020t0001g0106 |
3 | 196 | 0.0153 | -4 | c.164 others(19): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215064693 | GCACA | G | intron_variant | MODIFIER | HG01074.hp1 HG02280.hp1 HG02717.hp1 others(5): Show |
a0001 | a0001c0001a0001c0005a0001c0009others(2): Show | a0001c0001t0002a0001c0005t0001a0001c0005t0003others(4): Show | a0001c0001t0002g0119 a0001c0001t0002g0131 a0001c0005t0001g0145 others(5): Show |
8 | 74 | 0.1081 | -4 | c.164 others(19): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215065297 | TAAAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp2 others(36): Show |
a0001a0002a0021 | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0002a0001c0001t0013a0001c0002t0001others(15): Show | a0001c0001t0002g0025 a0001c0001t0002g0059 a0001c0001t0002g0150 others(36): Show |
39 | 66 | 0.5909 | -4 | c.164 others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215071408 | ATAAT | A | intron_variant | MODIFIER | HG02559.hp1 NA20129.hp2 |
a0002 | a0002c0008 | a0002c0008t0004a0002c0008t0007 | a0002c0008t0004g0021 a0002c0008t0007g0003 |
2 | 196 | 0.0102 | -4 | c.164 others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215095749 | ACCGG | A | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02109.hp2 others(16): Show |
a0001a0003a0004others(1): Show | a0001c0010a0001c0022a0003c0014others(8): Show | a0001c0010t0004a0001c0022t0019a0003c0014t0002others(11): Show | a0001c0010t0004g0113 a0001c0010t0004g0114 a0001c0022t0019g0014 others(16): Show |
19 | 196 | 0.0969 | -4 | c.163 others(23): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215129946 | GGCTA | G | intron_variant | MODIFIER | HG01975.hp2 HG02109.hp2 HG02280.hp1 others(6): Show |
a0001a0002 | a0001c0005a0001c0010a0001c0022others(3): Show | a0001c0005t0003a0001c0005t0005a0001c0010t0004others(4): Show | a0001c0005t0003g0077 a0001c0005t0005g0075 a0001c0010t0004g0113 others(6): Show |
9 | 196 | 0.0459 | -4 | c.69+ others(19): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215134597 | CTCTA | C | intron_variant | MODIFIER | HG02647.hp1 HG02723.hp1 NA20129.hp2 |
a0001a0002 | a0001c0022a0002c0008a0002c0056 | a0001c0022t0019a0002c0008t0004a0002c0056t0004 | a0001c0022t0019g0014 a0002c0008t0004g0021 a0002c0056t0004g0020 |
3 | 167 | 0.0180 | -4 | c.69+ others(19): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215134616 | TAGAG | T | intron_variant | MODIFIER | HG02109.hp2 HG02559.hp2 HG02572.hp2 others(4): Show |
a0001a0002a0006 | a0001c0010a0001c0022a0001c0045others(2): Show | a0001c0010t0004a0001c0022t0006a0001c0045t0004others(2): Show | a0001c0010t0004g0113 a0001c0010t0004g0114 a0001c0022t0006g0112 others(4): Show |
7 | 148 | 0.0473 | -4 | c.69+ others(19): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215142261 | CTTGT | C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG02559.hp1 others(13): Show |
a0001a0002a0006 | a0001c0010a0001c0012a0001c0015others(7): Show | a0001c0010t0009a0001c0012t0014a0001c0015t0007others(8): Show | a0001c0010t0009g0001 a0001c0012t0014g0015 a0001c0015t0007g0009 others(13): Show |
16 | 196 | 0.0816 | -4 | c.-40 others(15): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 3636 | chr2 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48172797 | CAAAA | C | intron_variant | MODIFIER | HG01123.hp2 HG01243.hp1 HG01433.hp2 others(12): Show |
a0001a0007a0008others(7): Show | a0001c0001a0001c0010a0001c0104others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0050 a0001c0001t0002g0058 a0001c0001t0004g0049 others(12): Show |
15 | 20 | 0.7500 | -4 | c.69+ others(19): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48180921 | GAAAC | G | intron_variant | MODIFIER | HG01192.hp1 HG02895.hp2 NA19030.hp1 |
a0007a0059 | a0007c0011a0007c0102a0059c0059 | a0007c0011t0003a0007c0102t0001a0059c0059t0003 | a0007c0011t0003g0130 a0007c0102t0001g0020 a0059c0059t0003g0172 |
3 | 159 | 0.0189 | -4 | c.69+ others(19): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48203405 | AGTAG | A | intron_variant | MODIFIER | HG02622.hp2 HG02886.hp1 |
a0001a0007 | a0001c0001a0007c0011 | a0001c0001t0004a0007c0011t0007 | a0001c0001t0004g0164 a0007c0011t0007g0165 |
2 | 176 | 0.0114 | -4 | c.287 others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 3/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48219883 | AACAC | A | intron_variant | MODIFIER | HG00735.hp2 HG01975.hp1 HG01981.hp2 others(15): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0010a0002c0065others(13): Show | a0001c0001t0001a0001c0010t0001a0002c0065t0006others(14): Show | a0001c0001t0001g0027 a0001c0010t0001g0067 a0002c0065t0006g0128 others(15): Show |
18 | 51 | 0.3529 | -4 | c.439 others(19): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 4/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48225109 | GTGCC | G | intron_variant | MODIFIER | HG00558.hp1 HG00735.hp2 HG01070.hp1 others(29): Show |
a0001a0002a0004others(18): Show | a0001c0001a0001c0010a0001c0104others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0177 a0001c0001t0002g0066 a0001c0001t0002g0085 others(29): Show |
32 | 111 | 0.2883 | -4 | c.469 others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 5/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48225135 | GCCTT | G | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00741.hp2 others(25): Show |
a0001a0002a0003others(18): Show | a0001c0010a0002c0022a0003c0003others(21): Show | a0001c0010t0002a0002c0022t0002a0003c0003t0004others(21): Show | a0001c0010t0002g0075 a0002c0022t0002g0124 a0003c0003t0004g0028 others(25): Show |
28 | 76 | 0.3684 | -4 | c.469 others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 5/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48251705 | TTTTC | T | intron_variant | MODIFIER | HG02630.hp1 HG02717.hp1 HG02809.hp2 others(5): Show |
a0014a0051a0053others(3): Show | a0014c0025a0014c0076a0051c0073others(4): Show | a0014c0025t0003a0014c0076t0001a0051c0073t0005others(4): Show | a0014c0025t0003g0024 a0014c0025t0003g0025 a0014c0076t0001g0021 others(5): Show |
8 | 176 | 0.0455 | -4 | c.200 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 15/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48286486 | CCCTT | C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(119): Show |
a0001a0002a0003others(52): Show | a0001c0001a0001c0010a0001c0103others(69): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(86): Show | a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0042 others(119): Show |
122 | 167 | 0.7305 | -4 | c.883 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48290939 | GGAAA | G | intron_variant | MODIFIER | HG02630.hp1 HG02717.hp1 HG02809.hp2 others(5): Show |
a0014a0051a0053others(3): Show | a0014c0025a0014c0076a0051c0073others(4): Show | a0014c0025t0003a0014c0076t0001a0051c0073t0005others(4): Show | a0014c0025t0003g0024 a0014c0025t0003g0025 a0014c0076t0001g0021 others(5): Show |
8 | 135 | 0.0593 | -4 | c.895 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 20/61 | chr7 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48309033 | GCACA | G | intron_variant | MODIFIER | HG00741.hp2 HG01516.hp1 |
a0009a0010 | a0009c0046a0010c0045 | a0009c0046t0002a0010c0045t0002 | a0009c0046t0002g0090 a0010c0045t0002g0076 |
2 | 14 | 0.1429 | -4 | c.932 others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 23/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48313979 | GTGTA | G | intron_variant | MODIFIER | HG02630.hp2 NA19030.hp1 |
a0007a0052 | a0007c0102a0052c0106 | a0007c0102t0001a0052c0106t0005 | a0007c0102t0001g0020 a0052c0106t0005g0006 |
2 | 176 | 0.0114 | -4 | c.968 others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 25/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48330030 | TATCC | T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp2 others(64): Show |
a0001a0002a0003others(36): Show | a0001c0001a0001c0010a0002c0002others(46): Show | a0001c0001t0001a0001c0001t0004a0001c0010t0002others(54): Show | a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0177 others(64): Show |
67 | 99 | 0.6768 | -4 | c.100 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 27/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48330485 | GTCCA | G | intron_variant | MODIFIER | HG02109.hp2 HG03492.hp2 |
a0003a0043 | a0003c0004a0043c0039 | a0003c0004t0001a0043c0039t0001 | a0003c0004t0001g0033 a0043c0039t0001g0003 |
2 | 77 | 0.0260 | -4 | c.100 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 27/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48330737 | ACATC | A | intron_variant | MODIFIER | HG02723.hp1 NA18979.hp2 |
a0004a0055 | a0004c0009a0055c0057 | a0004c0009t0001a0055c0057t0001 | a0004c0009t0001g0115 a0055c0057t0001g0001 |
2 | 76 | 0.0263 | -4 | c.100 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 27/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48368687 | GTATA | G | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00558.hp2 others(27): Show |
a0002a0005a0006others(16): Show | a0002c0022a0005c0007a0005c0063others(19): Show | a0002c0022t0002a0005c0007t0003a0005c0063t0001others(21): Show | a0002c0022t0002g0124 a0005c0007t0003g0121 a0005c0063t0001g0010 others(27): Show |
30 | 77 | 0.3896 | -4 | c.108 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 32/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48368776 | TACAC | T | intron_variant | MODIFIER | HG01123.hp2 HG02572.hp2 HG02809.hp2 others(5): Show |
a0014a0018a0048others(4): Show | a0014c0025a0018c0026a0048c0090others(4): Show | a0014c0025t0003a0018c0026t0001a0048c0090t0005others(4): Show | a0014c0025t0003g0024 a0014c0025t0003g0025 a0018c0026t0001g0057 others(5): Show |
8 | 95 | 0.0842 | -4 | c.108 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 32/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48381370 | TACAC | T | intron_variant | MODIFIER | HG01433.hp1 HG03834.hp2 |
a0001a0036 | a0001c0001a0036c0081 | a0001c0001t0002a0036c0081t0001 | a0001c0001t0002g0058 a0036c0081t0001g0149 |
2 | 147 | 0.0136 | -4 | c.113 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 35/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48410977 | CTCTT | C | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01123.hp2 others(25): Show |
a0001a0002a0004others(18): Show | a0001c0001a0001c0104a0002c0002others(23): Show | a0001c0001t0004a0001c0104t0005a0002c0002t0004others(23): Show | a0001c0001t0004g0049 a0001c0104t0005g0044 a0002c0002t0004g0106 others(25): Show |
28 | 113 | 0.2478 | -4 | c.122 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48411165 | CTCTT | C | intron_variant | MODIFIER | HG02630.hp2 HG02922.hp2 NA18906.hp1 |
a0052a0061a0076 | a0052c0106a0061c0098a0076c0110 | a0052c0106t0005a0061c0098t0001a0076c0110t0007 | a0052c0106t0005g0006 a0061c0098t0001g0070 a0076c0110t0007g0126 |
3 | 176 | 0.0170 | -4 | c.122 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48425753 | ATTTT | A | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00741.hp1 others(26): Show |
a0001a0002a0003others(16): Show | a0001c0001a0002c0002a0002c0022others(19): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(19): Show | a0001c0001t0004g0049 a0001c0001t0004g0164 a0002c0002t0004g0106 others(26): Show |
29 | 176 | 0.1648 | -4 | c.124 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 41/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48435374 | ATTTG | A | intron_variant | MODIFIER | HG02055.hp2 HG02630.hp2 HG03098.hp1 |
a0040a0052a0065 | a0040c0064a0052c0106a0065c0056 | a0040c0064t0001a0052c0106t0005a0065c0056t0002 | a0040c0064t0001g0127 a0052c0106t0005g0006 a0065c0056t0002g0018 |
3 | 176 | 0.0170 | -4 | c.125 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 42/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48490594 | TTGAC | T | intron_variant | MODIFIER | HG02523.hp2 HG03654.hp1 HG04204.hp2 others(3): Show |
a0001a0008a0010others(2): Show | a0001c0001a0008c0013a0010c0016others(2): Show | a0001c0001t0001a0008c0013t0002a0010c0016t0001others(2): Show | a0001c0001t0001g0082 a0008c0013t0002g0089 a0010c0016t0001g0088 others(3): Show |
6 | 176 | 0.0341 | -4 | c.132 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 48/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48512158 | AAGAC | A | intron_variant | MODIFIER | HG02109.hp1 HG03540.hp2 NA19043.hp2 |
a0006a0014 | a0006c0024a0014c0076 | a0006c0024t0001a0006c0024t0003a0014c0076t0001 | a0006c0024t0001g0019 a0006c0024t0003g0107 a0014c0076t0001g0021 |
3 | 176 | 0.0170 | -4 | c.136 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 51/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48524634 | CTGAT | C | intron_variant | MODIFIER | HG00735.hp2 HG02055.hp1 HG02055.hp2 others(20): Show |
a0001a0002a0004others(16): Show | a0001c0103a0002c0065a0004c0079others(16): Show | a0001c0103t0006a0002c0065t0006a0004c0079t0006others(18): Show | a0001c0103t0006g0059 a0002c0065t0006g0128 a0004c0079t0006g0147 others(20): Show |
23 | 176 | 0.1307 | -4 | c.142 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 54/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48525670 | CTTTT | C | intron_variant | MODIFIER | HG01243.hp2 HG02258.hp1 HG02572.hp2 others(10): Show |
a0020a0024a0027others(7): Show | a0020c0020a0024c0014a0027c0021others(7): Show | a0020c0020t0001a0020c0020t0005a0024c0014t0005others(9): Show | a0020c0020t0001g0007 a0020c0020t0005g0123 a0024c0014t0005g0119 others(10): Show |
13 | 19 | 0.6842 | -4 | c.142 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 54/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48534195 | TTGTC | T | intron_variant | MODIFIER | HG02071.hp1 NA18961.hp1 NA18971.hp2 others(7): Show |
a0005a0006a0007others(3): Show | a0005c0023a0006c0005a0007c0011others(3): Show | a0005c0023t0003a0006c0005t0003a0007c0011t0003others(3): Show | a0005c0023t0003g0171 a0006c0005t0003g0087 a0006c0005t0003g0093 others(7): Show |
10 | 176 | 0.0568 | -4 | c.143 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48558177 | TCCTC | T | 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 | -4 | c.143 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48563794 | TTGTG | T | intron_variant | MODIFIER | HG00544.hp2 HG00738.hp2 HG01074.hp2 others(21): Show |
a0001a0002a0004others(13): Show | a0001c0001a0001c0010a0002c0002others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0010t0001others(17): Show | a0001c0001t0001g0027 a0001c0001t0001g0064 a0001c0001t0001g0133 others(21): Show |
24 | 35 | 0.6857 | -4 | c.143 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48565214 | CTTTT | C | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp2 others(27): Show |
a0001a0002a0003others(19): Show | a0001c0001a0002c0002a0002c0022others(22): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(23): Show | a0001c0001t0004g0049 a0001c0001t0004g0164 a0002c0002t0004g0106 others(27): Show |
30 | 74 | 0.4054 | -4 | c.143 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48599100 | CAGTA | C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(99): Show |
a0001a0002a0003others(51): Show | a0001c0001a0001c0010a0002c0002others(66): Show | a0001c0001t0002a0001c0001t0004a0001c0010t0002others(73): Show | a0001c0001t0002g0058 a0001c0001t0002g0066 a0001c0001t0002g0085 others(99): Show |
102 | 176 | 0.5795 | -4 | c.147 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 58/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48605172 | CTCTT | C | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG03486.hp1 others(2): Show |
a0006a0014a0046others(2): Show | a0006c0024a0014c0076a0046c0067others(2): Show | a0006c0024t0001a0014c0076t0001a0046c0067t0009others(2): Show | a0006c0024t0001g0019 a0014c0076t0001g0021 a0046c0067t0009g0144 others(2): Show |
5 | 176 | 0.0284 | -4 | c.147 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 58/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48624059 | AGTGT | A | intron_variant | MODIFIER | HG00544.hp1 HG00735.hp2 HG01975.hp1 others(22): Show |
a0001a0002a0004others(18): Show | a0001c0103a0002c0065a0004c0008others(19): Show | a0001c0103t0006a0002c0065t0006a0004c0008t0005others(19): Show | a0001c0103t0006g0059 a0002c0065t0006g0128 a0004c0008t0005g0168 others(22): Show |
25 | 116 | 0.2155 | -4 | c.148 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48633931 | CATAG | C | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG01952.hp2 others(19): Show |
a0001a0006a0016others(15): Show | a0001c0001a0001c0010a0006c0024others(16): Show | a0001c0001t0001a0001c0010t0001a0006c0024t0003others(16): Show | a0001c0001t0001g0040 a0001c0001t0001g0082 a0001c0001t0001g0133 others(19): Show |
22 | 133 | 0.1654 | -4 | c.148 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104807845 | TACAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(149): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0005a0001c0035others(42): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(88): Show | a0001c0001t0001g0017 a0001c0001t0001g0056 a0001c0001t0001g0078 others(149): Show |
152 | 223 | 0.6816 | -4 | c.427 others(23): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 30/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104810141 | CATAT | C | intron_variant | MODIFIER | HG01081.hp2 HG01106.hp1 HG01109.hp1 others(23): Show |
a0002a0004a0005others(4): Show | a0002c0017a0002c0025a0002c0074others(17): Show | a0002c0017t0002a0002c0017t0015a0002c0017t0026others(21): Show | a0002c0017t0002g0185 a0002c0017t0015g0104 a0002c0017t0026g0190 others(23): Show |
26 | 195 | 0.1333 | -4 | c.417 others(21): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 29/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104824239 | CAAAG | C | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00558.hp1 others(35): Show |
a0002a0003a0011 | a0002c0011a0002c0037a0002c0059others(5): Show | a0002c0011t0004a0002c0011t0007a0002c0011t0012others(19): Show | a0002c0011t0004g0177 a0002c0011t0004g0269 a0002c0011t0007g0119 others(35): Show |
38 | 316 | 0.1203 | -4 | c.265 others(21): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 18/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104829943 | TACAC | T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00544.hp2 others(30): Show |
a0001a0004a0005others(5): Show | a0001c0001a0001c0108a0001c0109others(13): Show | a0001c0001t0001a0001c0001t0039a0001c0108t0002others(21): Show | a0001c0001t0001g0089 a0001c0001t0039g0158 a0001c0108t0002g0114 others(30): Show |
33 | 127 | 0.2598 | -4 | c.189 others(21): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 14/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104839660 | CAAAT | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(159): Show |
a0001a0002a0003others(23): Show | a0001c0092a0001c0108a0001c0109others(60): Show | a0001c0092t0012a0001c0108t0002a0001c0109t0001others(113): Show | a0001c0092t0012g0275 a0001c0108t0002g0114 a0001c0109t0001g0287 others(158): Show |
162 | 316 | 0.5127 | -4 | c.105 others(21): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 9/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104846808 | CAGAT | C | intron_variant | MODIFIER | HG01081.hp2 HG02145.hp1 HG02559.hp2 others(7): Show |
a0002a0008a0012 | a0002c0011a0002c0017a0002c0059others(3): Show | a0002c0011t0004a0002c0017t0002a0002c0059t0001others(3): Show | a0002c0011t0004g0113 a0002c0017t0002g0185 a0002c0059t0001g0290 others(7): Show |
10 | 316 | 0.0316 | -4 | c.721 others(21): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 7/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104862049 | TACAC | T | intron_variant | MODIFIER | HG01255.hp2 HG01884.hp2 HG02257.hp2 others(2): Show |
a0002 | a0002c0017a0002c0025a0002c0032others(1): Show | a0002c0017t0026a0002c0025t0015a0002c0032t0001others(1): Show | a0002c0017t0026g0190 a0002c0017t0026g0209 a0002c0025t0015g0197 others(2): Show |
5 | 176 | 0.0284 | -4 | c.422 others(19): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104862073 | CACAT | C | intron_variant | MODIFIER | NA19001.hp2 NA19009.hp1 NA19088.hp1 |
a0002a0009a0013 | a0002c0011a0009c0018a0013c0013 | a0002c0011t0004a0009c0018t0038a0013c0013t0003 | a0002c0011t0004g0269 a0009c0018t0038g0283 a0013c0013t0003g0263 |
3 | 316 | 0.0095 | -4 | c.422 others(19): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar |