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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA13_chr7_48166458_48652497 | 48312725 | A | AT | intron_variant | MODIFIER | HG06807.hp1 HG06807.hp2 |
a0074a0075 | a0074c0036a0075c0048 | a0074c0036t0007a0075c0048t0004 | a0074c0036t0007g0083 a0075c0048t0004g0159 |
2 | 176 | 0.0114 | 1 | c.951 others(9): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 24/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48318510 | G | GT | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00735.hp2 others(21): Show |
a0001a0002a0005others(13): Show | a0001c0001a0002c0002a0002c0022others(17): Show | a0001c0001t0001a0002c0002t0004a0002c0022t0002others(18): Show | a0001c0001t0001g0027 a0002c0002t0004g0106 a0002c0002t0004g0142 others(21): Show |
24 | 156 | 0.1538 | 1 | c.999 others(10): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 27/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48334337 | A | AT | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp2 others(49): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0010a0002c0022others(35): Show | a0001c0001t0001a0001c0010t0002a0002c0022t0002others(39): Show | a0001c0001t0001g0027 a0001c0010t0002g0075 a0002c0022t0002g0124 others(49): Show |
52 | 162 | 0.3210 | 1 | c.100 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 27/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48340831 | T | TA | intron_variant | MODIFIER | HG00544.hp1 HG01516.hp2 HG01975.hp2 others(8): Show |
a0001a0008a0009others(6): Show | a0001c0001a0008c0013a0008c0032others(7): Show | a0001c0001t0001a0008c0013t0005a0008c0032t0001others(8): Show | a0001c0001t0001g0027 a0008c0013t0005g0045 a0008c0032t0001g0080 others(8): Show |
11 | 176 | 0.0625 | 1 | c.102 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 29/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48343591 | C | CT | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00735.hp2 others(83): Show |
a0001a0002a0003others(47): Show | a0001c0001a0001c0010a0001c0103others(57): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(66): Show | a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0040 others(83): Show |
86 | 175 | 0.4914 | 1 | c.102 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 29/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48345517 | C | CA | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(155): Show |
a0001a0002a0003others(78): Show | a0001c0001a0001c0010a0001c0103others(103): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(123): Show | a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0040 others(155): Show |
158 | 176 | 0.8977 | 1 | c.102 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 29/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48358141 | C | CA | intron_variant | MODIFIER | HG01123.hp2 HG02109.hp1 HG02622.hp2 others(5): Show |
a0001a0006a0007others(4): Show | a0001c0001a0006c0024a0007c0011others(5): Show | a0001c0001t0004a0006c0024t0001a0007c0011t0007others(5): Show | a0001c0001t0004g0164 a0006c0024t0001g0019 a0007c0011t0007g0165 others(5): Show |
8 | 176 | 0.0455 | 1 | c.106 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 31/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48362409 | C | CT | intron_variant | MODIFIER | HG01516.hp1 HG02083.hp1 HG02109.hp2 others(8): Show |
a0002a0003a0008others(7): Show | a0002c0022a0003c0004a0008c0013others(7): Show | a0002c0022t0004a0003c0004t0001a0008c0013t0001others(7): Show | a0002c0022t0004g0163 a0003c0004t0001g0033 a0008c0013t0001g0110 others(8): Show |
11 | 104 | 0.1058 | 1 | c.106 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 31/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48369905 | A | AT | intron_variant | MODIFIER | HG02615.hp1 HG02622.hp1 HG02723.hp2 others(2): Show |
a0021a0049a0050others(2): Show | a0021c0018a0049c0082a0050c0080others(2): Show | a0021c0018t0004a0049c0082t0005a0050c0080t0013others(2): Show | a0021c0018t0004g0095 a0049c0082t0005g0139 a0050c0080t0013g0158 others(2): Show |
5 | 176 | 0.0284 | 1 | c.108 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 32/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48372515 | T | TA | intron_variant | MODIFIER | HG01516.hp1 HG02083.hp1 HG03492.hp2 others(3): Show |
a0001a0003a0008others(2): Show | a0001c0103a0003c0004a0008c0013others(2): Show | a0001c0103t0006a0003c0004t0001a0003c0004t0002others(3): Show | a0001c0103t0006g0059 a0003c0004t0001g0033 a0003c0004t0002g0035 others(3): Show |
6 | 115 | 0.0522 | 1 | c.111 others(9): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 33/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48390149 | C | CT | intron_variant | MODIFIER | HG00558.hp1 HG02071.hp1 NA18987.hp2 |
a0022a0033 | a0022c0030a0033c0068 | a0022c0030t0003a0033c0068t0002 | a0022c0030t0003g0038 a0022c0030t0003g0069 a0033c0068t0002g0061 |
3 | 176 | 0.0170 | 1 | c.116 others(10): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 37/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48391792 | T | TA | intron_variant | MODIFIER | HG00408.hp1 HG00738.hp1 HG00741.hp2 others(67): Show |
a0001a0002a0003others(40): Show | a0001c0001a0001c0010a0002c0022others(51): Show | a0001c0001t0004a0001c0010t0001a0002c0022t0004others(58): Show | a0001c0001t0004g0164 a0001c0010t0001g0054 a0002c0022t0004g0163 others(67): Show |
70 | 176 | 0.3977 | 1 | c.116 others(10): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 37/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48400044 | C | CT | intron_variant | MODIFIER | HG02717.hp1 HG02970.hp2 HG03195.hp1 others(2): Show |
a0005a0053a0064others(2): Show | a0005c0063a0053c0091a0064c0105others(2): Show | a0005c0063t0001a0053c0091t0001a0064c0105t0005others(2): Show | a0005c0063t0001g0010 a0053c0091t0001g0108 a0064c0105t0005g0037 others(2): Show |
5 | 125 | 0.0400 | 1 | c.118 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 38/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48407473 | C | CA | intron_variant | MODIFIER | HG01167.hp2 HG01975.hp2 HG01993.hp1 others(12): Show |
a0001a0008a0009others(11): Show | a0001c0010a0008c0013a0009c0044others(11): Show | a0001c0010t0001a0008c0013t0005a0009c0044t0001others(11): Show | a0001c0010t0001g0067 a0008c0013t0005g0045 a0009c0044t0001g0100 others(12): Show |
15 | 137 | 0.1095 | 1 | c.120 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 39/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48409926 | C | CA | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00735.hp1 others(35): Show |
a0001a0003a0004others(26): Show | a0001c0010a0003c0003a0004c0008others(28): Show | a0001c0010t0002a0003c0003t0004a0004c0008t0001others(30): Show | a0001c0010t0002g0075 a0003c0003t0004g0028 a0004c0008t0001g0148 others(35): Show |
38 | 132 | 0.2879 | 1 | c.120 others(10): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 39/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48410093 | C | CA | intron_variant | MODIFIER | HG00408.hp1 HG00738.hp1 HG01243.hp2 others(20): Show |
a0001a0005a0008others(17): Show | a0001c0010a0005c0007a0008c0013others(17): Show | a0001c0010t0001a0005c0007t0002a0005c0007t0003others(19): Show | a0001c0010t0001g0054 a0005c0007t0002g0129 a0005c0007t0003g0137 others(20): Show |
23 | 129 | 0.1783 | 1 | c.120 others(10): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 39/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48411292 | T | TC | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp2 others(37): Show |
a0001a0002a0003others(25): Show | a0001c0010a0002c0022a0003c0003others(26): Show | a0001c0010t0002a0002c0022t0002a0003c0003t0004others(29): Show | a0001c0010t0002g0075 a0002c0022t0002g0124 a0003c0003t0004g0028 others(37): Show |
40 | 176 | 0.2273 | 1 | c.122 others(20): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | chr7 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48412336 | C | CT | splice_region_variant others(1): Show |
LOW | HG01123.hp2 HG01169.hp1 HG02523.hp2 others(5): Show |
a0004a0007a0012others(3): Show | a0004c0008a0007c0102a0012c0012others(3): Show | a0004c0008t0004a0004c0008t0005a0007c0102t0001others(4): Show | a0004c0008t0004g0166 a0004c0008t0005g0168 a0007c0102t0001g0020 others(5): Show |
8 | 176 | 0.0455 | 1 | c.122 others(8): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48420731 | C | CT | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00558.hp2 others(84): Show |
a0001a0002a0003others(51): Show | a0001c0001a0002c0002a0003c0003others(60): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0004others(67): Show | a0001c0001t0001g0177 a0001c0001t0004g0049 a0002c0002t0004g0106 others(84): Show |
87 | 171 | 0.5088 | 1 | c.124 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 41/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48421202 | T | TC | intron_variant | MODIFIER | HG01123.hp2 HG02523.hp2 HG03098.hp1 others(13): Show |
a0001a0003a0005others(8): Show | a0001c0001a0001c0010a0001c0103others(11): Show | a0001c0001t0001a0001c0010t0001a0001c0103t0006others(11): Show | a0001c0001t0001g0082 a0001c0010t0001g0067 a0001c0103t0006g0059 others(13): Show |
16 | 176 | 0.0909 | 1 | c.124 others(22): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 41/61 | chr7 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48422055 | C | CA | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00558.hp1 others(50): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0010a0001c0103others(35): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(41): Show | a0001c0001t0001g0004 a0001c0001t0001g0040 a0001c0001t0001g0042 others(50): Show |
53 | 70 | 0.7571 | 1 | c.124 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 41/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48425729 | T | TA | intron_variant | MODIFIER | HG01123.hp2 HG02523.hp2 HG02572.hp1 others(15): Show |
a0001a0003a0007others(8): Show | a0001c0001a0001c0010a0003c0004others(10): Show | a0001c0001t0001a0001c0010t0001a0003c0004t0001others(11): Show | a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0063 others(15): Show |
18 | 176 | 0.1023 | 1 | c.124 others(22): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 41/61 | chr7 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48430672 | T | TA | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(109): Show |
a0001a0002a0003others(59): Show | a0001c0001a0001c0010a0001c0103others(75): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(91): Show | a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0040 others(109): Show |
112 | 166 | 0.6747 | 1 | c.125 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 42/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48435971 | G | GT | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG02055.hp2 others(5): Show |
a0002a0003a0004others(4): Show | a0002c0002a0002c0065a0003c0004others(5): Show | a0002c0002t0004a0002c0065t0006a0003c0004t0002others(5): Show | a0002c0002t0004g0106 a0002c0065t0006g0128 a0003c0004t0002g0035 others(5): Show |
8 | 158 | 0.0506 | 1 | c.125 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 42/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48444934 | G | GT | intron_variant | MODIFIER | HG02109.hp1 HG03540.hp2 |
a0006 | a0006c0024 | a0006c0024t0001a0006c0024t0003 | a0006c0024t0001g0019 a0006c0024t0003g0107 |
2 | 176 | 0.0114 | 1 | c.125 others(12): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 42/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48445011 | C | CT | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00738.hp2 others(40): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0010a0002c0002others(27): Show | a0001c0001t0001a0001c0001t0004a0001c0010t0001others(30): Show | a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0050 others(40): Show |
43 | 102 | 0.4216 | 1 | c.125 others(12): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 42/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48446387 | T | TA | intron_variant | MODIFIER | HG00558.hp2 HG00738.hp1 HG00741.hp2 others(32): Show |
a0005a0006a0007others(17): Show | a0005c0007a0005c0023a0006c0005others(22): Show | a0005c0007t0002a0005c0007t0003a0005c0023t0003others(24): Show | a0005c0007t0002g0129 a0005c0007t0003g0121 a0005c0007t0003g0137 others(32): Show |
35 | 135 | 0.2593 | 1 | c.125 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 42/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48446705 | C | CT | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00741.hp1 others(49): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0010a0002c0002others(33): Show | a0001c0001t0001a0001c0001t0004a0001c0010t0001others(38): Show | a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0063 others(49): Show |
52 | 176 | 0.2955 | 1 | c.125 others(22): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 42/61 | chr7 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48450972 | C | CT | intron_variant | MODIFIER | HG00558.hp2 HG00738.hp1 HG00741.hp2 others(60): Show |
a0003a0005a0006others(39): Show | a0003c0004a0005c0007a0005c0023others(44): Show | a0003c0004t0002a0005c0007t0002a0005c0007t0003others(48): Show | a0003c0004t0002g0035 a0005c0007t0002g0129 a0005c0007t0003g0121 others(60): Show |
63 | 119 | 0.5294 | 1 | c.125 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 42/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48453235 | A | AT | intron_variant | MODIFIER | HG00735.hp2 HG02145.hp2 HG02523.hp1 others(2): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0103a0002c0065others(2): Show | a0001c0001t0002a0001c0103t0006a0002c0065t0006others(2): Show | a0001c0001t0002g0066 a0001c0103t0006g0059 a0002c0065t0006g0128 others(2): Show |
5 | 106 | 0.0472 | 1 | c.125 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 42/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48454584 | A | AG | intron_variant | MODIFIER | HG01433.hp2 NA18998.hp2 |
a0001a0012 | a0001c0104a0012c0012 | a0001c0104t0005a0012c0012t0002 | a0001c0104t0005g0044 a0012c0012t0002g0056 |
2 | 176 | 0.0114 | 1 | c.125 others(10): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 42/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48462083 | T | TA | intron_variant | MODIFIER | HG00558.hp2 HG00738.hp1 HG00741.hp2 others(48): Show |
a0005a0006a0007others(24): Show | a0005c0007a0005c0023a0006c0005others(31): Show | a0005c0007t0002a0005c0007t0003a0005c0023t0003others(35): Show | a0005c0007t0002g0129 a0005c0007t0003g0121 a0005c0007t0003g0137 others(48): Show |
51 | 176 | 0.2898 | 1 | c.128 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 43/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48462214 | T | TA | intron_variant | MODIFIER | HG00558.hp2 HG00738.hp1 HG00741.hp2 others(48): Show |
a0005a0006a0007others(24): Show | a0005c0007a0005c0023a0006c0005others(31): Show | a0005c0007t0002a0005c0007t0003a0005c0023t0003others(35): Show | a0005c0007t0002g0129 a0005c0007t0003g0121 a0005c0007t0003g0137 others(48): Show |
51 | 176 | 0.2898 | 1 | c.128 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 43/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48462441 | A | AT | intron_variant | MODIFIER | HG00558.hp2 HG00738.hp1 HG00741.hp2 others(40): Show |
a0005a0006a0007others(21): Show | a0005c0007a0005c0023a0006c0005others(26): Show | a0005c0007t0002a0005c0007t0003a0005c0023t0003others(28): Show | a0005c0007t0002g0129 a0005c0007t0003g0121 a0005c0007t0003g0137 others(40): Show |
43 | 176 | 0.2443 | 1 | c.128 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 43/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48462443 | T | TC | intron_variant | MODIFIER | HG00408.hp1 HG01169.hp1 HG01243.hp2 others(32): Show |
a0001a0002a0003others(25): Show | a0001c0001a0002c0022a0003c0004others(25): Show | a0001c0001t0004a0002c0022t0004a0003c0004t0004others(27): Show | a0001c0001t0004g0049 a0001c0001t0004g0164 a0002c0022t0004g0163 others(32): Show |
35 | 162 | 0.2160 | 1 | c.128 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 43/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48462449 | C | CT | intron_variant | MODIFIER | HG02572.hp1 HG02895.hp1 HG02897.hp1 others(2): Show |
a0007a0015a0026others(1): Show | a0007c0102a0015c0047a0026c0027others(1): Show | a0007c0102t0001a0015c0047t0001a0026c0027t0001others(2): Show | a0007c0102t0001g0020 a0015c0047t0001g0155 a0026c0027t0001g0161 others(2): Show |
5 | 176 | 0.0284 | 1 | c.128 others(22): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 43/61 | chr7 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48465524 | C | CT | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp2 others(22): Show |
a0001a0002a0003others(16): Show | a0001c0001a0002c0002a0003c0003others(18): Show | a0001c0001t0004a0002c0002t0004a0003c0003t0004others(18): Show | a0001c0001t0004g0049 a0002c0002t0004g0106 a0003c0003t0004g0028 others(22): Show |
25 | 144 | 0.1736 | 1 | c.128 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 43/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48468120 | G | GA | intron_variant | MODIFIER | HG00558.hp2 HG00738.hp1 HG00741.hp2 others(55): Show |
a0005a0006a0007others(27): Show | a0005c0007a0005c0023a0005c0063others(37): Show | a0005c0007t0002a0005c0007t0003a0005c0023t0003others(42): Show | a0005c0007t0002g0129 a0005c0007t0003g0121 a0005c0007t0003g0137 others(55): Show |
58 | 176 | 0.3295 | 1 | c.129 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 44/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48469919 | C | CA | intron_variant | MODIFIER | HG00544.hp1 HG01123.hp2 HG02523.hp2 others(11): Show |
a0001a0003a0008others(5): Show | a0001c0001a0001c0010a0003c0004others(7): Show | a0001c0001t0001a0001c0010t0001a0003c0004t0001others(7): Show | a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0050 others(11): Show |
14 | 171 | 0.0819 | 1 | c.129 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 44/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48473814 | C | CT | intron_variant | MODIFIER | HG02976.hp1 HG03195.hp1 NA19043.hp1 |
a0027a0066 | a0027c0021a0066c0071 | a0027c0021t0008a0066c0071t0005 | a0027c0021t0008g0048 a0027c0021t0008g0078 a0066c0071t0005g0105 |
3 | 176 | 0.0170 | 1 | c.129 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 45/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48475458 | A | AT | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00738.hp1 others(35): Show |
a0001a0002a0003others(24): Show | a0001c0001a0002c0002a0002c0022others(28): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(29): Show | a0001c0001t0004g0049 a0001c0001t0004g0164 a0002c0002t0004g0106 others(35): Show |
38 | 138 | 0.2754 | 1 | c.129 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 45/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48478948 | C | CT | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01070.hp2 others(8): Show |
a0002a0003a0004others(5): Show | a0002c0065a0003c0003a0004c0079others(5): Show | a0002c0065t0006a0003c0003t0004a0004c0079t0006others(5): Show | a0002c0065t0006g0128 a0003c0003t0004g0028 a0003c0003t0004g0029 others(8): Show |
11 | 132 | 0.0833 | 1 | c.129 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 45/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48482544 | A | AT | intron_variant | MODIFIER | HG00558.hp2 HG00738.hp1 HG00741.hp2 others(51): Show |
a0001a0005a0006others(26): Show | a0001c0010a0005c0007a0005c0023others(34): Show | a0001c0010t0002a0005c0007t0002a0005c0007t0003others(38): Show | a0001c0010t0002g0075 a0005c0007t0002g0129 a0005c0007t0003g0121 others(51): Show |
54 | 173 | 0.3121 | 1 | c.130 others(10): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 46/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48483172 | A | AT | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp2 others(40): Show |
a0001a0002a0003others(30): Show | a0001c0001a0002c0002a0002c0022others(33): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(33): Show | a0001c0001t0004g0049 a0001c0001t0004g0164 a0002c0002t0004g0106 others(40): Show |
43 | 176 | 0.2443 | 1 | c.131 others(9): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 47/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48486527 | C | CT | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp2 others(35): Show |
a0001a0002a0003others(27): Show | a0001c0001a0002c0002a0002c0022others(30): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(30): Show | a0001c0001t0004g0049 a0001c0001t0004g0164 a0002c0002t0004g0106 others(35): Show |
38 | 176 | 0.2159 | 1 | c.131 others(22): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 47/61 | chr7 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48518523 | T | TA | 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 | 1 | c.137 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 52/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48522036 | C | CT | 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 | 1 | c.140 others(22): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 53/61 | chr7 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48524858 | C | CA | 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 | 1 | c.142 others(20): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 54/61 | chr7 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48525670 | C | CT | intron_variant | MODIFIER | HG00544.hp1 HG01123.hp2 HG01167.hp2 others(22): Show |
a0001a0003a0004others(14): Show | a0001c0001a0001c0010a0001c0104others(17): Show | a0001c0001t0001a0001c0010t0001a0001c0104t0005others(17): Show | a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0063 others(22): Show |
25 | 31 | 0.8065 | 1 | c.142 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 54/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48529764 | C | CT | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp2 others(32): Show |
a0001a0002a0003others(23): Show | a0001c0001a0002c0002a0002c0022others(26): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(27): Show | a0001c0001t0004g0049 a0001c0001t0004g0164 a0002c0002t0004g0106 others(32): Show |
35 | 159 | 0.2201 | 1 | c.143 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |