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 | 48166821 | C | CAA | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp2 others(41): Show |
a0001a0002a0004others(28): Show | a0001c0001a0002c0002a0002c0022others(34): Show | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(37): Show | a0001c0001t0001g0133a0001c0001t0006g0178a0002c0002t0001g0131others(41): Show | 44 | 178 | 0.2472 | 2 | c.-46 others(13): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 4636 | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48172797 | C | CAA | intron_variant | MODIFIER | HG02723.hp1 HG02965.hp1 HG03579.hp1 others(2): Show |
a0007a0013a0015others(2): Show | a0007c0102a0013c0006a0015c0076others(2): Show | a0007c0102t0001a0013c0006t0001a0015c0076t0001others(2): Show | a0007c0102t0001g0020a0013c0006t0001g0002a0015c0076t0001g0021others(2): Show | 5 | 178 | 0.0281 | 2 | c.69+ others(17): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48181557 | C | CAT | intron_variant | MODIFIER | HG00408.hp2 NA19062.hp2 |
a0002a0010 | a0002c0022a0010c0031 | a0002c0022t0002a0010c0031t0003 | a0002c0022t0002g0124a0010c0031t0003g0118 | 2 | 178 | 0.0112 | 2 | c.69+ others(19): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48187017 | G | GTA | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG01167.hp2 others(19): Show |
a0002a0004a0006others(17): Show | a0002c0022a0004c0009a0006c0007others(18): Show | a0002c0022t0002a0004c0009t0001a0006c0007t0003others(18): Show | a0002c0022t0002g0124a0004c0009t0001g0116a0006c0007t0003g0121others(19): Show | 22 | 178 | 0.1236 | 2 | c.70- others(17): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48187019 | G | GTA | intron_variant | MODIFIER | HG02723.hp1 HG03453.hp2 NA20129.hp1 others(1): Show |
a0001a0046a0047others(1): Show | a0001c0001a0046c0057a0047c0040others(1): Show | a0001c0001t0006a0046c0057t0001a0047c0040t0001others(1): Show | a0001c0001t0006g0178a0046c0057t0001g0001a0047c0040t0001g0009others(1): Show | 4 | 178 | 0.0225 | 2 | c.70- others(17): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48194865 | T | TTA | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(174): Show |
a0001a0002a0003others(84): Show | a0001c0001a0001c0010a0001c0103others(110): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(134): Show | a0001c0001t0001g0004a0001c0001t0001g0027a0001c0001t0001g0040others(174): Show | 177 | 178 | 0.9944 | 2 | c.163 others(19): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 2/61 | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48206787 | A | AGT | intron_variant | MODIFIER | HG00544.hp1 HG00735.hp2 HG01192.hp1 others(26): Show |
a0001a0002a0005others(16): Show | a0001c0001a0002c0002a0002c0065others(20): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0004others(22): Show | a0001c0001t0001g0133a0002c0002t0001g0131a0002c0002t0004g0106others(26): Show | 29 | 178 | 0.1629 | 2 | c.287 others(19): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 3/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48219883 | A | AAC | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01167.hp1 others(18): Show |
a0001a0002a0004others(15): Show | a0001c0001a0002c0002a0004c0008others(17): Show | a0001c0001t0001a0002c0002t0002a0004c0008t0001others(17): Show | a0001c0001t0001g0133a0002c0002t0002g0156a0004c0008t0001g0149others(18): Show | 21 | 178 | 0.1180 | 2 | c.439 others(17): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 4/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48246350 | G | GTC | intron_variant | MODIFIER | HG00544.hp2 HG00738.hp1 HG00741.hp2 others(45): Show |
a0011a0012a0013others(29): Show | a0011c0017a0011c0044a0011c0046others(35): Show | a0011c0017t0002a0011c0017t0003a0011c0044t0001others(39): Show | a0011c0017t0002g0048a0011c0017t0003g0067a0011c0044t0001g0096others(45): Show | 48 | 178 | 0.2697 | 2 | c.165 others(19): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 13/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48278070 | G | GTA | splice_region_variant others(1): Show |
LOW | HG00741.hp1 HG01070.hp2 HG01123.hp1 others(12): Show |
a0001a0003a0028others(3): Show | a0001c0001a0003c0003a0003c0004others(4): Show | a0001c0001t0001a0003c0003t0004a0003c0004t0001others(7): Show | a0001c0001t0001g0042a0003c0003t0004g0028a0003c0003t0004g0029others(12): Show | 15 | 178 | 0.0843 | 2 | c.690 others(15): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 17/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48281689 | C | CTT | intron_variant | MODIFIER | HG00544.hp2 HG00738.hp1 HG00741.hp1 others(37): Show |
a0003a0011a0012others(18): Show | a0003c0003a0003c0004a0011c0017others(24): Show | a0003c0003t0004a0003c0004t0001a0003c0004t0002others(29): Show | a0003c0003t0004g0028a0003c0003t0004g0029a0003c0003t0004g0034others(37): Show | 40 | 178 | 0.2247 | 2 | c.883 others(19): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48293192 | G | GCC | intron_variant | MODIFIER | HG00408.hp1 HG02083.hp2 HG02615.hp2 others(11): Show |
a0001a0007a0008others(5): Show | a0001c0001a0007c0011a0008c0013others(5): Show | a0001c0001t0001a0001c0001t0002a0007c0011t0003others(7): Show | a0001c0001t0001g0040a0001c0001t0001g0042a0001c0001t0001g0063others(11): Show | 14 | 178 | 0.0787 | 2 | c.895 others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 20/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48297940 | A | ATT | intron_variant | MODIFIER | HG02809.hp2 HG02895.hp2 HG03471.hp1 others(3): Show |
a0015a0061a0062others(1): Show | a0015c0025a0015c0076a0061c0074others(2): Show | a0015c0025t0003a0015c0076t0001a0061c0074t0001others(2): Show | a0015c0025t0003g0024a0015c0025t0003g0025a0015c0076t0001g0021others(3): Show | 6 | 178 | 0.0337 | 2 | c.920 others(19): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 22/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48309033 | G | GCA | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(37): Show |
a0001a0002a0005others(23): Show | a0001c0001a0002c0002a0002c0022others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(32): Show | a0001c0001t0001g0133a0001c0001t0002g0054a0001c0001t0002g0065others(37): Show | 40 | 178 | 0.2247 | 2 | c.932 others(19): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 23/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48314423 | A | AAT | intron_variant | MODIFIER | HG00558.hp1 HG02071.hp1 HG02071.hp2 |
a0002a0019a0067 | a0002c0002a0019c0030a0067c0068 | a0002c0002t0001a0019c0030t0003a0067c0068t0002 | a0002c0002t0001g0131a0019c0030t0003g0068a0067c0068t0002g0061 | 3 | 178 | 0.0169 | 2 | c.985 others(17): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 26/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48358204 | G | GAA | intron_variant | MODIFIER | HG00408.hp1 HG00738.hp1 HG01123.hp1 others(13): Show |
a0001a0003a0004others(9): Show | a0001c0010a0003c0003a0004c0008others(10): Show | a0001c0010t0001a0003c0003t0004a0004c0008t0004others(12): Show | a0001c0010t0001g0050a0003c0003t0004g0028a0004c0008t0004g0167others(13): Show | 16 | 178 | 0.0899 | 2 | c.106 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 31/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48358221 | G | GAA | intron_variant | MODIFIER | HG02622.hp2 HG02886.hp1 HG03195.hp2 |
a0001a0007a0025 | a0001c0001a0007c0011a0025c0085 | a0001c0001t0004a0007c0011t0007a0025c0085t0004 | a0001c0001t0004g0164a0007c0011t0007g0165a0025c0085t0004g0008 | 3 | 178 | 0.0169 | 2 | c.106 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 31/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48368687 | G | GTA | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01192.hp2 others(16): Show |
a0001a0002a0008others(12): Show | a0001c0010a0002c0002a0002c0022others(13): Show | a0001c0010t0002a0002c0002t0002a0002c0002t0004others(15): Show | a0001c0010t0002g0074a0002c0002t0002g0156a0002c0002t0002g0168others(16): Show | 19 | 178 | 0.1067 | 2 | c.108 others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 32/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48368776 | T | TAC | intron_variant | MODIFIER | HG00741.hp2 HG01070.hp1 HG01192.hp1 others(12): Show |
a0001a0004a0006others(7): Show | a0001c0001a0004c0009a0006c0023others(7): Show | a0001c0001t0001a0004c0009t0002a0006c0023t0003others(7): Show | a0001c0001t0001g0004a0001c0001t0001g0040a0001c0001t0001g0058others(12): Show | 15 | 178 | 0.0843 | 2 | c.108 others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 32/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48381370 | T | TAC | intron_variant | MODIFIER | HG01167.hp2 HG01952.hp2 HG02109.hp1 others(25): Show |
a0001a0005a0009others(10): Show | a0001c0001a0005c0005a0005c0024others(15): Show | a0001c0001t0001a0005c0005t0003a0005c0024t0001others(17): Show | a0001c0001t0001g0081a0005c0005t0003g0090a0005c0005t0003g0102others(25): Show | 28 | 178 | 0.1573 | 2 | c.113 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 35/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48401744 | A | AAC | intron_variant | MODIFIER | HG00408.hp1 HG00738.hp1 HG01433.hp2 others(26): Show |
a0001a0002a0006others(17): Show | a0001c0001a0001c0010a0001c0104others(21): Show | a0001c0001t0004a0001c0010t0001a0001c0104t0005others(24): Show | a0001c0001t0004g0164a0001c0010t0001g0050a0001c0104t0005g0044others(26): Show | 29 | 178 | 0.1629 | 2 | c.118 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 38/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48409926 | C | CAA | intron_variant | MODIFIER | HG00408.hp2 HG00741.hp1 HG01070.hp2 others(17): Show |
a0001a0002a0003others(14): Show | a0001c0010a0002c0022a0003c0003others(14): Show | a0001c0010t0001a0002c0022t0002a0003c0003t0004others(14): Show | a0001c0010t0001g0066a0002c0022t0002g0124a0003c0003t0004g0029others(17): Show | 20 | 178 | 0.1124 | 2 | c.120 others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 39/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48411050 | T | TCC | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG01070.hp2 others(8): Show |
a0001a0003a0006others(7): Show | a0001c0010a0003c0003a0006c0007others(7): Show | a0001c0010t0002a0003c0003t0004a0006c0007t0003others(7): Show | a0001c0010t0002g0074a0003c0003t0004g0029a0003c0003t0004g0034others(8): Show | 11 | 178 | 0.0618 | 2 | c.122 others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48420322 | C | CTT | intron_variant | MODIFIER | HG02630.hp2 HG02717.hp1 HG03540.hp1 |
a0006a0035a0065 | a0006c0063a0035c0106a0065c0091 | a0006c0063t0001a0035c0106t0005a0065c0091t0001 | a0006c0063t0001g0010a0035c0106t0005g0006a0065c0091t0001g0109 | 3 | 178 | 0.0169 | 2 | c.124 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 41/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48422055 | C | CAA | intron_variant | MODIFIER | HG00738.hp2 HG02071.hp2 HG02145.hp1 others(3): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0010a0002c0002others(3): Show | a0001c0001t0002a0001c0010t0001a0002c0002t0001others(3): Show | a0001c0001t0002g0085a0001c0010t0001g0050a0002c0002t0001g0131others(3): Show | 6 | 178 | 0.0337 | 2 | c.124 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 41/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48425721 | A | ATG | intron_variant | MODIFIER | HG01123.hp2 HG02523.hp2 HG03041.hp2 others(11): Show |
a0001a0003a0007others(6): Show | a0001c0001a0001c0010a0003c0004others(8): Show | a0001c0001t0001a0001c0010t0001a0003c0004t0001others(8): Show | a0001c0001t0001g0042a0001c0001t0001g0058a0001c0001t0001g0063others(11): Show | 14 | 178 | 0.0787 | 2 | c.124 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 41/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48426938 | G | GAC | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(154): Show |
a0001a0002a0003others(76): Show | a0001c0001a0001c0010a0001c0103others(99): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(118): Show | a0001c0001t0001g0004a0001c0001t0001g0042a0001c0001t0001g0058others(154): Show | 157 | 178 | 0.8820 | 2 | c.124 others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 41/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48430672 | T | TAA | intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02145.hp2 others(6): Show |
a0007a0009a0013others(6): Show | a0007c0102a0009c0012a0013c0006others(6): Show | a0007c0102t0001a0009c0012t0002a0013c0006t0001others(6): Show | a0007c0102t0001g0020a0009c0012t0002g0072a0013c0006t0001g0016others(6): Show | 9 | 178 | 0.0506 | 2 | c.125 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 42/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48445011 | C | CTT | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp2 HG02280.hp2 others(2): Show |
a0005a0015a0025others(1): Show | a0005c0024a0015c0076a0025c0089others(1): Show | a0005c0024t0001a0005c0024t0003a0015c0076t0001others(2): Show | a0005c0024t0001g0018a0005c0024t0003g0107a0015c0076t0001g0021others(2): Show | 5 | 178 | 0.0281 | 2 | 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 | 48450972 | C | CTT | intron_variant | MODIFIER | HG02055.hp2 HG02630.hp2 HG02886.hp1 others(3): Show |
a0007a0035a0039others(3): Show | a0007c0011a0035c0106a0039c0110others(3): Show | a0007c0011t0007a0035c0106t0005a0039c0110t0007others(3): Show | a0007c0011t0007g0165a0035c0106t0005g0006a0039c0110t0007g0126others(3): Show | 6 | 178 | 0.0337 | 2 | c.125 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 42/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48453235 | A | ATT | intron_variant | MODIFIER | HG00544.hp1 HG01123.hp2 HG02523.hp2 others(11): Show |
a0001a0003a0008others(5): Show | a0001c0001a0001c0010a0003c0004others(7): Show | a0001c0001t0001a0001c0010t0001a0003c0004t0001others(7): Show | a0001c0001t0001g0042a0001c0001t0001g0058a0001c0001t0001g0063others(11): Show | 14 | 178 | 0.0787 | 2 | c.125 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 42/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48457275 | C | CTA | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00558.hp1 others(28): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0010a0002c0002others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(22): Show | a0001c0001t0001g0004a0001c0001t0001g0133a0001c0001t0001g0177others(28): Show | 31 | 178 | 0.1742 | 2 | c.128 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 43/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48461644 | C | CCT | intron_variant | MODIFIER | HG02809.hp2 HG03471.hp1 HG03486.hp2 |
a0015a0049 | a0015c0025a0049c0055 | a0015c0025t0003a0049c0055t0003 | a0015c0025t0003g0024a0015c0025t0003g0025a0049c0055t0003g0125 | 3 | 178 | 0.0169 | 2 | c.128 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 43/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48462021 | A | ATC | intron_variant | MODIFIER | HG00558.hp2 HG00738.hp1 HG00741.hp2 others(48): Show |
a0005a0006a0007others(24): Show | a0005c0005a0005c0024a0006c0007others(31): Show | a0005c0005t0003a0005c0024t0001a0005c0024t0003others(35): Show | a0005c0005t0003g0090a0005c0005t0003g0102a0005c0005t0003g0103others(48): Show | 51 | 178 | 0.2865 | 2 | c.128 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 43/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48465828 | T | TTA | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp2 others(24): Show |
a0001a0002a0003others(16): Show | a0001c0001a0002c0002a0002c0022others(19): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(19): Show | a0001c0001t0004g0057a0001c0001t0004g0164a0002c0002t0004g0106others(24): Show | 27 | 178 | 0.1517 | 2 | c.128 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 43/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48475458 | A | ATT | intron_variant | MODIFIER | HG00741.hp2 HG01243.hp1 HG01993.hp1 others(4): Show |
a0009a0011a0023others(4): Show | a0009c0012a0011c0046a0023c0018others(4): Show | a0009c0012t0002a0011c0046t0002a0023c0018t0004others(4): Show | a0009c0012t0002g0094a0011c0046t0002g0089a0023c0018t0004g0091others(4): Show | 7 | 178 | 0.0393 | 2 | c.129 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 45/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48496968 | G | GTT | intron_variant | MODIFIER | HG02280.hp1 HG02886.hp1 HG03486.hp1 others(2): Show |
a0007a0039a0057others(2): Show | a0007c0011a0039c0110a0057c0036others(2): Show | a0007c0011t0007a0039c0110t0007a0057c0036t0007others(2): Show | a0007c0011t0007g0165a0039c0110t0007g0126a0057c0036t0007g0083others(2): Show | 5 | 178 | 0.0281 | 2 | c.132 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 48/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48512760 | T | TCA | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(157): Show |
a0001a0002a0003others(77): Show | a0001c0001a0001c0010a0001c0103others(100): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(121): Show | a0001c0001t0001g0004a0001c0001t0001g0042a0001c0001t0001g0058others(157): Show | 160 | 178 | 0.8989 | 2 | 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 | 48525670 | C | CTT | intron_variant | MODIFIER | HG00738.hp2 HG01070.hp1 HG01167.hp1 others(21): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0010a0002c0002others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(18): Show | a0001c0001t0001g0004a0001c0001t0001g0133a0001c0001t0002g0054others(21): Show | 24 | 178 | 0.1348 | 2 | 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 | 48536259 | A | AAT | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp2 others(33): Show |
a0001a0002a0003others(24): Show | a0001c0001a0002c0002a0002c0022others(27): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(28): Show | a0001c0001t0004g0057a0001c0001t0004g0164a0002c0002t0004g0106others(33): Show | 36 | 178 | 0.2023 | 2 | c.143 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48551265 | A | ACT | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp2 others(33): Show |
a0001a0002a0003others(24): Show | a0001c0001a0002c0002a0002c0022others(27): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(28): Show | a0001c0001t0004g0057a0001c0001t0004g0164a0002c0002t0004g0106others(33): Show | 36 | 178 | 0.2023 | 2 | 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 | 48570319 | C | CTT | intron_variant | MODIFIER | HG01192.hp1 HG01975.hp1 HG01993.hp2 others(37): Show |
a0001a0005a0006others(24): Show | a0001c0001a0005c0005a0005c0024others(27): Show | a0001c0001t0002a0005c0005t0003a0005c0024t0001others(29): Show | a0001c0001t0002g0065a0005c0005t0003g0090a0005c0005t0003g0102others(37): Show | 40 | 178 | 0.2247 | 2 | c.143 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48590272 | T | TAC | intron_variant | MODIFIER | HG02055.hp2 HG02523.hp2 HG03654.hp1 others(4): Show |
a0001a0008a0012others(3): Show | a0001c0001a0008c0013a0012c0016others(3): Show | a0001c0001t0001a0008c0013t0002a0012c0016t0001others(3): Show | a0001c0001t0001g0081a0008c0013t0002g0088a0012c0016t0001g0087others(4): Show | 7 | 178 | 0.0393 | 2 | c.146 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 57/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48593242 | T | TTG | intron_variant | MODIFIER | NA18977.hp2 NA18987.hp2 NA19083.hp1 |
a0005a0006a0019 | a0005c0005a0006c0023a0019c0030 | a0005c0005t0003a0006c0023t0003a0019c0030t0003 | a0005c0005t0003g0132a0006c0023t0003g0138a0019c0030t0003g0038 | 3 | 178 | 0.0169 | 2 | c.146 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 57/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48624059 | A | AGT | intron_variant | MODIFIER | HG00558.hp1 HG01074.hp1 HG01192.hp1 others(11): Show |
a0001a0003a0006others(11): Show | a0001c0001a0003c0004a0006c0007others(11): Show | a0001c0001t0004a0003c0004t0001a0006c0007t0002others(11): Show | a0001c0001t0004g0057a0003c0004t0001g0033a0006c0007t0002g0129others(11): Show | 14 | 178 | 0.0787 | 2 | c.148 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48629575 | C | CAA | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00735.hp2 others(28): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0010a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(23): Show | a0001c0001t0001g0064a0001c0001t0002g0054a0001c0001t0002g0065others(28): Show | 31 | 178 | 0.1742 | 2 | 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 | 48646525 | A | ATT | 3_prime_UTR_variant | MODIFIER | HG00735.hp2 HG02895.hp1 HG02897.hp2 others(3): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0103a0002c0065others(3): Show | a0001c0001t0006a0001c0103t0006a0002c0065t0006others(3): Show | a0001c0001t0006g0178a0001c0103t0006g0059a0002c0065t0006g0128others(3): Show | 6 | 178 | 0.0337 | 2 | c.*10 others(13): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 62/62 | 1026 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
ABCA1_chr9_104776006_104933155 | 104778099 | T | TCC | downstream_gene_variant | MODIFIER | HG01884.hp1 HG03486.hp1 HG03540.hp1 others(1): Show |
a0002a0005a0011 | a0002c0037a0002c0078a0005c0070others(1): Show | a0002c0037t0001a0002c0078t0001a0005c0070t0001others(1): Show | a0002c0037t0001g0275a0002c0078t0001g0216a0005c0070t0001g0316others(1): Show | 4 | 318 | 0.0126 | 2 | c.*62 others(13): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2906 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104779621 | G | GTT | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01175.hp2 HG01257.hp2 others(31): Show |
a0001a0002a0003others(12): Show | a0001c0001a0002c0032a0002c0059others(21): Show | a0001c0001t0001a0002c0032t0001a0002c0059t0001others(24): Show | a0001c0001t0001g0195a0001c0001t0001g0238a0002c0032t0001g0317others(31): Show | 34 | 318 | 0.1069 | 2 | c.*46 others(13): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1384 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104790096 | C | CAA | intron_variant | MODIFIER | HG01099.hp1 HG01106.hp1 HG01192.hp2 others(20): Show |
a0002a0004a0005others(2): Show | a0002c0015a0002c0017a0002c0025others(12): Show | a0002c0015t0002a0002c0015t0004a0002c0015t0013others(18): Show | a0002c0015t0002g0315a0002c0015t0004g0004a0002c0015t0013g0305others(20): Show | 23 | 318 | 0.0723 | 2 | c.592 others(19): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 44/49 | chr9 | TogoVar |