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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AATF_chr17_36943954_37061871 | 37053376 | CAATT | C | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02630.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0086 others(5): Show |
8 | 244 | 0.0328 | -4 | c.162 others(23): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81116738 | CTGTT | C | downstream_gene_variant | MODIFIER | HG02451.hp2 HG03209.hp1 HG03688.hp2 |
a0006a0027 | a0006c0012a0027c0054 | a0006c0012t0008a0027c0054t0001 | a0006c0012t0008g0103 a0006c0012t0008g0246 a0027c0054t0001g0221 |
3 | 365 | 0.0082 | -4 | c.*16 others(15): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 556 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81117472 | CAGTT | C | 3_prime_UTR_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02258.hp1 others(7): Show |
a0009a0024a0025others(2): Show | a0009c0019a0009c0025a0009c0065others(4): Show | a0009c0019t0004a0009c0025t0004a0009c0065t0004others(4): Show | a0009c0019t0004g0233 a0009c0019t0004g0234 a0009c0019t0004g0235 others(7): Show |
10 | 366 | 0.0273 | -4 | c.*92 others(13): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 14/14 | 926 | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81119206 | CCAGG | C | intron_variant | MODIFIER | HG00738.hp1 HG02257.hp1 HG02630.hp1 others(4): Show |
a0001a0003a0005others(2): Show | a0001c0004a0003c0007a0005c0006others(2): Show | a0001c0004t0001a0003c0007t0001a0005c0006t0003others(2): Show | a0001c0004t0001g0044 a0003c0007t0001g0116 a0003c0007t0001g0187 others(4): Show |
7 | 359 | 0.0195 | -4 | c.408 others(21): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 13/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81138170 | CACTT | C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(6): Show |
a0001a0006a0007others(3): Show | a0001c0004a0006c0042a0006c0056others(5): Show | a0001c0004t0002a0006c0042t0001a0006c0056t0001others(5): Show | a0001c0004t0002g0070 a0006c0042t0001g0335 a0006c0056t0001g0332 others(6): Show |
9 | 366 | 0.0246 | -4 | c.56- others(19): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81141917 | CTCCT | C | intron_variant | MODIFIER | HG01261.hp1 HG01516.hp1 HG01517.hp2 |
a0002a0003 | a0002c0002a0003c0047 | a0002c0002t0001a0003c0047t0001 | a0002c0002t0001g0017 a0003c0047t0001g0302 |
3 | 268 | 0.0112 | -4 | c.56- others(19): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81148064 | CAAAA | C | intron_variant | MODIFIER | HG02145.hp2 HG02280.hp2 HG02615.hp1 others(7): Show |
a0003a0004a0005others(4): Show | a0003c0027a0004c0062a0005c0006others(5): Show | a0003c0027t0001a0004c0062t0001a0005c0006t0003others(6): Show | a0003c0027t0001g0277 a0004c0062t0001g0197 a0005c0006t0003g0226 others(7): Show |
10 | 59 | 0.1695 | -4 | c.56- others(21): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81148802 | ACACT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(141): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0004a0001c0040others(35): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(39): Show | a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0059 others(134): Show |
144 | 366 | 0.3934 | -4 | c.56- others(21): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81156094 | CAATG | C | intron_variant | MODIFIER | HG00438.hp2 HG00735.hp1 HG00735.hp2 others(72): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0004a0001c0011others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(31): Show | a0001c0001t0001g0014 a0001c0001t0001g0237 a0001c0001t0001g0250 others(69): Show |
75 | 365 | 0.2055 | -4 | c.55+ others(19): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81170124 | ATGTG | A | upstream_gene_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02109.hp2 others(12): Show |
a0001a0003a0005others(6): Show | a0001c0001a0001c0004a0003c0027others(8): Show | a0001c0001t0001a0001c0004t0002a0003c0027t0001others(8): Show | a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0001g0124 others(12): Show |
15 | 365 | 0.0411 | -4 | c.-41 others(15): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 3904 | chr17 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8671167 | ATTAT | A | upstream_gene_variant | MODIFIER | HG01257.hp1 HG02735.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0221 a0001c0001t0002g0027 a0001c0001t0002g0220 |
3 | 360 | 0.0083 | -4 | c.-35 others(15): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 3449 | chr16 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8673396 | CTGTG | C | upstream_gene_variant | MODIFIER | HG02698.hp1 HG03942.hp1 HG04184.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0039a0002c0002t0002 | a0001c0001t0001g0101 a0001c0001t0001g0114 a0001c0001t0001g0248 others(2): Show |
5 | 122 | 0.0410 | -4 | c.-13 others(15): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1220 | chr16 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8682224 | CACAG | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00438.hp1 others(47): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(19): Show | a0001c0001t0001g0031 a0001c0001t0001g0070 a0001c0001t0001g0104 others(47): Show |
50 | 360 | 0.1389 | -4 | c.-42 others(21): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8709350 | TTTTA | T | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02109.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(7): Show | a0001c0001t0001g0233 a0001c0001t0001g0316 a0001c0001t0001g0319 others(9): Show |
12 | 92 | 0.1304 | -4 | c.-41 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8710694 | CAGAG | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(31): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0281 a0001c0001t0001g0313 a0001c0001t0001g0318 others(31): Show |
34 | 76 | 0.4474 | -4 | c.-41 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8711326 | CAGGT | C | intron_variant | MODIFIER | HG02559.hp1 HG02809.hp1 HG03098.hp1 others(2): Show |
a0002 | a0002c0002a0002c0006a0002c0007 | a0002c0002t0006a0002c0002t0007a0002c0006t0007others(2): Show | a0002c0002t0006g0346 a0002c0002t0007g0270 a0002c0006t0007g0222 others(2): Show |
5 | 360 | 0.0139 | -4 | c.-41 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8711786 | AGATG | A | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02055.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0007others(3): Show | a0001c0001t0011a0002c0002t0003a0002c0002t0005others(7): Show | a0001c0001t0011g0232 a0002c0002t0003g0239 a0002c0002t0003g0264 others(9): Show |
12 | 300 | 0.0400 | -4 | c.-41 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8715657 | CAATT | C | intron_variant | MODIFIER | HG02258.hp1 HG02976.hp2 HG03017.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0009others(1): Show | a0001c0003t0002a0002c0002t0019a0002c0009t0002others(1): Show | a0001c0003t0002g0172 a0002c0002t0019g0002 a0002c0009t0002g0315 others(1): Show |
4 | 360 | 0.0111 | -4 | c.-41 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8723827 | ATTTT | A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG01123.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0021others(3): Show | a0001c0001t0005a0001c0003t0003a0001c0021t0001others(6): Show | a0001c0001t0005g0045 a0001c0003t0003g0107 a0001c0021t0001g0120 others(8): Show |
11 | 130 | 0.0846 | -4 | c.-41 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8734400 | AAAAT | A | intron_variant | MODIFIER | HG02717.hp2 HG03130.hp2 NA19240.hp1 |
a0002 | a0002c0007 | a0002c0007t0003a0002c0007t0007a0002c0007t0011 | a0002c0007t0003g0005 a0002c0007t0007g0242 a0002c0007t0011g0004 |
3 | 360 | 0.0083 | -4 | c.-41 others(21): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8743318 | CTGTG | C | intron_variant | MODIFIER | HG00099.hp1 HG00733.hp2 HG01167.hp2 others(19): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0003t0004a0002c0002t0001others(11): Show | a0001c0001t0001g0051 a0001c0003t0004g0108 a0002c0002t0001g0009 others(19): Show |
22 | 66 | 0.3333 | -4 | c.71- others(19): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8743580 | AATAT | A | intron_variant | MODIFIER | HG01516.hp1 HG02040.hp2 HG03704.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0005a0001c0003t0001others(2): Show | a0001c0001t0004g0097 a0001c0001t0004g0118 a0001c0001t0004g0268 others(4): Show |
7 | 360 | 0.0194 | -4 | c.71- others(19): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8747991 | ATATT | A | intron_variant | MODIFIER | HG03098.hp1 HG03540.hp1 NA18522.hp1 |
a0002 | a0002c0006 | a0002c0006t0002a0002c0006t0007a0002c0006t0030 | a0002c0006t0002g0343 a0002c0006t0007g0222 a0002c0006t0030g0008 |
3 | 360 | 0.0083 | -4 | c.169 others(19): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8749386 | CTTTT | C | intron_variant | MODIFIER | HG01169.hp1 HG01192.hp2 HG01891.hp2 others(8): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0009others(1): Show | a0001c0001t0003a0002c0002t0001a0002c0002t0006others(4): Show | a0001c0001t0003g0353 a0002c0002t0001g0009 a0002c0002t0001g0292 others(8): Show |
11 | 53 | 0.2075 | -4 | c.199 others(21): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8754661 | GATTT | G | intron_variant | MODIFIER | HG02258.hp1 HG02559.hp1 HG02723.hp2 others(1): Show |
a0002 | a0002c0002a0002c0007a0002c0009others(1): Show | a0002c0002t0003a0002c0007t0008a0002c0009t0002others(1): Show | a0002c0002t0003g0304 a0002c0007t0008g0241 a0002c0009t0002g0315 others(1): Show |
4 | 356 | 0.0112 | -4 | c.317 others(21): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8772252 | CTGTG | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00621.hp1 others(39): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0011others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0070 a0001c0001t0001g0104 a0001c0001t0001g0114 others(39): Show |
42 | 57 | 0.7368 | -4 | c.817 others(19): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8773105 | TACAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(87): Show |
a0001a0002a0005 | a0001c0001a0001c0011a0001c0013others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0031 a0001c0001t0001g0070 a0001c0001t0001g0091 others(87): Show |
90 | 117 | 0.7692 | -4 | c.954 others(19): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8781189 | TGATG | T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(222): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0011others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(48): Show | a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0051 others(222): Show |
225 | 360 | 0.6250 | -4 | c.138 others(19): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8783191 | ATCAT | A | 3_prime_UTR_variant | MODIFIER | HG01192.hp2 HG02622.hp1 HG02895.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0002c0002t0006 | a0001c0001t0006g0298 a0001c0001t0006g0307 a0002c0002t0006g0037 others(5): Show |
8 | 360 | 0.0222 | -4 | c.*17 others(15): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 16/16 | 1773 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8784536 | TAGTC | T | 3_prime_UTR_variant | MODIFIER | HG01192.hp2 HG02622.hp1 HG02895.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0006a0002c0002t0006a0002c0005t0041 | a0001c0001t0006g0298 a0001c0001t0006g0307 a0002c0002t0006g0037 others(6): Show |
9 | 360 | 0.0250 | -4 | c.*31 others(15): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 16/16 | 3110 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8789444 | AAAAC | A | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(91): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0023others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0021others(21): Show | a0001c0001t0001g0219 a0001c0001t0001g0281 a0001c0001t0003g0032 others(91): Show |
94 | 129 | 0.7287 | -4 | c.*80 others(15): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 4875 | chr16 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69143833 | GTAGA | G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG00733.hp2 others(45): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0003c0003others(12): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(15): Show | a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0162 others(44): Show |
48 | 119 | 0.4034 | -4 | c.*49 others(15): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 4173 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69146088 | GAATA | G | downstream_gene_variant | MODIFIER | HG01243.hp2 HG02148.hp2 NA20752.hp1 |
a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0208 a0004c0004t0003g0255 a0004c0004t0003g0256 |
3 | 346 | 0.0087 | -4 | c.*27 others(15): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 1918 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69152802 | GTAAA | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(202): Show |
a0001a0002a0003others(13): Show | a0001c0001a0002c0002a0002c0015others(17): Show | a0001c0001t0002a0002c0002t0001a0002c0002t0005others(23): Show | a0001c0001t0002g0015 a0001c0001t0002g0160 a0001c0001t0002g0180 others(196): Show |
205 | 342 | 0.5994 | -4 | c.413 others(21): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 34/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69156752 | CAAAT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(153): Show |
a0002a0003a0004others(9): Show | a0002c0002a0002c0015a0003c0003others(12): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(15): Show | a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0011 others(148): Show |
156 | 346 | 0.4509 | -4 | c.345 others(19): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 28/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69184849 | ATGTG | A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp1 others(126): Show |
a0002a0003a0005others(4): Show | a0002c0002a0002c0015a0003c0003others(6): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(8): Show | a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0011 others(122): Show |
129 | 310 | 0.4161 | -4 | c.249 others(21): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 20/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69184916 | TACAC | T | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01071.hp1 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0002a0002c0002t0001a0003c0003t0001others(4): Show | a0001c0001t0002g0177 a0002c0002t0001g0148 a0003c0003t0001g0090 others(17): Show |
21 | 234 | 0.0897 | -4 | c.249 others(21): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 20/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69194395 | AACAG | A | frameshift_variant | HIGH | HG00609.hp2 HG00733.hp2 HG01070.hp1 others(39): Show |
a0004 | a0004c0004a0004c0006 | a0004c0004t0003a0004c0004t0011a0004c0006t0003others(1): Show | a0004c0004t0003g0007 a0004c0004t0003g0010 a0004c0004t0003g0077 others(38): Show |
42 | 346 | 0.1214 | -4 | c.133 others(13): Show |
p.Ser others(5): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 12/39 | 1890/6008 | 1331/4632 | 444/1543 | chr17 | TogoVar | |||
ABCA10_chr17_69143007_69233824 | 69208417 | CAAAA | C | intron_variant | MODIFIER | HG01361.hp2 HG02027.hp2 HG02074.hp1 others(5): Show |
a0002a0003a0006others(1): Show | a0002c0002a0003c0003a0006c0007others(1): Show | a0002c0002t0001a0002c0002t0005a0003c0003t0001others(2): Show | a0002c0002t0001g0039 a0002c0002t0001g0066 a0002c0002t0001g0119 others(5): Show |
8 | 108 | 0.0741 | -4 | c.100 others(23): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69211314 | GATAT | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG01123.hp2 others(23): Show |
a0001a0010a0024 | a0001c0001a0010c0018a0024c0033 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(3): Show | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0029 others(22): Show |
26 | 268 | 0.0970 | -4 | c.100 others(23): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69225116 | AAAAC | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(116): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0034a0002c0002others(10): Show | a0001c0001t0002a0001c0034t0002a0002c0002t0001others(10): Show | a0001c0001t0002g0001 a0001c0001t0002g0029 a0001c0001t0002g0038 others(114): Show |
119 | 346 | 0.3439 | -4 | c.34+ others(17): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 3/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69231833 | CTGGA | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(67): Show |
a0001a0002a0003others(12): Show | a0001c0001a0002c0002a0003c0003others(15): Show | a0001c0001t0002a0001c0001t0006a0002c0002t0001others(17): Show | a0001c0001t0002g0204 a0001c0001t0006g0225 a0001c0001t0006g0226 others(66): Show |
70 | 346 | 0.2023 | -4 | c.-35 others(15): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 3010 | chr17 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214926797 | TCCTA | T | downstream_gene_variant | MODIFIER | HG01074.hp2 HG01517.hp1 HG02630.hp1 others(4): Show |
a0001a0002a0006 | a0001c0006a0001c0015a0001c0016others(3): Show | a0001c0006t0005a0001c0015t0009a0001c0016t0005others(3): Show | a0001c0006t0005g0152 a0001c0015t0009g0006 a0001c0016t0005g0063 others(4): Show |
7 | 196 | 0.0357 | -4 | c.*58 others(15): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 4744 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214930993 | TTCTA | T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(127): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0003others(51): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0013others(80): Show | a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0035 others(127): Show |
130 | 196 | 0.6633 | -4 | c.*16 others(15): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 548 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214931084 | CATAT | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(47): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0002a0001c0001t0012a0001c0002t0011others(22): Show | a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0035 others(47): Show |
50 | 113 | 0.4425 | -4 | c.*15 others(15): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 457 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214932803 | AATTC | A | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00735.hp1 others(47): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(16): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0020others(22): Show | a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0035 others(47): Show |
50 | 196 | 0.2551 | -4 | c.768 others(19): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 52/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214950384 | CTGTG | C | intron_variant | MODIFIER | HG02559.hp1 HG02615.hp2 HG02647.hp2 others(5): Show |
a0001a0002a0003 | a0001c0045a0001c0051a0002c0008others(1): Show | a0001c0045t0004a0001c0051t0004a0002c0008t0004others(2): Show | a0001c0045t0004g0067 a0001c0051t0004g0076 a0002c0008t0004g0021 others(5): Show |
8 | 85 | 0.0941 | -4 | c.685 others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 45/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214950418 | GTGTA | G | intron_variant | MODIFIER | HG02559.hp2 HG02723.hp1 |
a0001 | a0001c0022 | a0001c0022t0006a0001c0022t0019 | a0001c0022t0006g0112 a0001c0022t0019g0014 |
2 | 150 | 0.0133 | -4 | c.685 others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 45/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214969555 | CAGTT | C | intron_variant | MODIFIER | HG02258.hp1 HG02896.hp1 |
a0001a0002 | a0001c0032a0002c0057 | a0001c0032t0006a0002c0057t0006 | a0001c0032t0006g0042 a0002c0057t0006g0177 |
2 | 196 | 0.0102 | -4 | c.569 others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 37/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215039759 | AAAAT | A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01975.hp2 others(26): Show |
a0002a0008a0015 | a0002c0007a0002c0008a0002c0013others(8): Show | a0002c0007t0002a0002c0007t0003a0002c0007t0004others(16): Show | a0002c0007t0002g0105 a0002c0007t0003g0017 a0002c0007t0003g0069 others(26): Show |
29 | 176 | 0.1648 | -4 | c.873 others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 7/52 | chr2 | TogoVar |