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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACACB_chr12_109111587_109273226 | 109255095 | T | TACAC | intron_variant | MODIFIER | HG03098.hp2 HG03195.hp1 HG03225.hp2 |
a0028a0029a0031 | a0028c0076a0029c0080a0031c0063 | a0028c0076t0010a0029c0080t0010a0031c0063t0010 | a0028c0076t0010g0265 a0029c0080t0010g0071 a0031c0063t0010g0117 |
3 | 298 | 0.0101 | 4 | c.616 others(21): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 44/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109262950 | T | TTATA | intron_variant | MODIFIER | HG00323.hp1 HG01167.hp1 HG02523.hp1 others(10): Show |
a0001a0002a0003others(4): Show | a0001c0003a0001c0016a0001c0069others(7): Show | a0001c0003t0002a0001c0016t0011a0001c0069t0002others(8): Show | a0001c0003t0002g0102 a0001c0016t0011g0272 a0001c0069t0002g0204 others(10): Show |
13 | 37 | 0.3514 | 4 | c.678 others(21): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 49/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109266905 | A | ATTTT | 3_prime_UTR_variant | MODIFIER | HG02074.hp1 NA18970.hp1 NA18974.hp2 others(3): Show |
a0001a0003a0004 | a0001c0002a0001c0011a0003c0001others(1): Show | a0001c0002t0008a0001c0011t0008a0003c0001t0008others(1): Show | a0001c0002t0008g0304 a0001c0011t0008g0019 a0003c0001t0008g0128 others(3): Show |
6 | 75 | 0.0800 | 4 | c.*55 others(13): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 53/53 | 561 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACAD10_chr12_111681053_111762099 | 111704664 | T | TTTTC | intron_variant | MODIFIER | HG02559.hp2 HG02630.hp2 HG03927.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0013 a0001c0001t0001g0242 a0001c0006t0001g0202 |
3 | 331 | 0.0091 | 4 | c.337 others(21): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAD10_chr12_111681053_111762099 | 111718036 | C | CTTTT | intron_variant | MODIFIER | HG02886.hp1 HG03098.hp1 HG03453.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0189 a0001c0001t0001g0191 others(4): Show |
8 | 63 | 0.1270 | 4 | c.992 others(21): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAD10_chr12_111681053_111762099 | 111722369 | C | CTATT | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG01071.hp2 others(98): Show |
a0001a0004a0007others(1): Show | a0001c0001a0001c0002a0004c0005others(2): Show | a0001c0001t0001a0001c0002t0002a0004c0005t0002others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0042 others(93): Show |
101 | 302 | 0.3344 | 4 | c.106 others(21): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAD10_chr12_111681053_111762099 | 111752608 | T | TCAAA | intron_variant | MODIFIER | HG01943.hp2 HG02257.hp2 HG02717.hp1 others(5): Show |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0318 a0002c0003t0003g0319 a0002c0003t0003g0320 others(5): Show |
8 | 334 | 0.0240 | 4 | c.281 others(23): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAD10_chr12_111681053_111762099 | 111761291 | T | TTGTG | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02976.hp2 HG03130.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0166 a0001c0001t0001g0194 a0001c0001t0001g0208 others(2): Show |
5 | 291 | 0.0172 | 4 | c.*48 others(15): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 4193 | chr12 | TogoVar | |||||||
ACAD11_chr3_132553141_132664809 | 132588192 | G | GGTAT | intron_variant | MODIFIER | HG00673.hp2 HG00735.hp2 HG01069.hp1 others(23): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(1): Show | a0001c0001t0001g0018 a0001c0001t0001g0037 a0001c0001t0001g0038 others(20): Show |
26 | 270 | 0.0963 | 4 | c.162 others(23): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 13/19 | chr3 | TogoVar | |||||||
ACAD9_chr3_128874620_128918114 | 128879647 | C | CTAAG | 5_prime_UTR_variant | MODIFIER | HG02040.hp2 HG02055.hp2 HG02056.hp2 others(29): Show |
a0001a0004a0005 | a0001c0003a0001c0004a0001c0012others(3): Show | a0001c0003t0004a0001c0003t0005a0001c0004t0004others(4): Show | a0001c0003t0004g0050 a0001c0003t0004g0054 a0001c0003t0004g0061 others(26): Show |
32 | 370 | 0.0865 | 4 | c.-44 others(11): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 1/18 | 40 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACAD9_chr3_128874620_128918114 | 128887644 | A | AATAT | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01167.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0178 others(5): Show |
14 | 122 | 0.1148 | 4 | c.244 others(21): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACAD9_chr3_128874620_128918114 | 128899522 | C | CCGTG | intron_variant | MODIFIER | HG02258.hp2 HG02970.hp2 HG03516.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0037 a0001c0003t0005g0191 a0001c0003t0005g0192 |
4 | 357 | 0.0112 | 4 | c.808 others(17): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 7/17 | chr3 | TogoVar | |||||||
ACAD9_chr3_128874620_128918114 | 128899523 | G | GGTGT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00642.hp2 others(42): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0008others(5): Show | a0001c0001t0001g0215 a0001c0001t0001g0241 a0001c0002t0002g0005 others(30): Show |
45 | 182 | 0.2473 | 4 | c.808 others(18): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACAD9_chr3_128874620_128918114 | 128910662 | C | CTGAT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(132): Show |
a0001 | a0001c0002a0001c0015 | a0001c0002t0002a0001c0002t0007a0001c0002t0008others(1): Show | a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0005 others(90): Show |
135 | 370 | 0.3649 | 4 | c.169 others(19): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACAD9_chr3_128874620_128918114 | 128911045 | G | GTGTA | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 NA19003.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0006 | a0001c0001t0001g0208 a0001c0003t0006g0045 |
3 | 368 | 0.0082 | 4 | c.176 others(21): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACADL_chr2_210182923_210230447 | 210184989 | G | GACAC | downstream_gene_variant | MODIFIER | HG00140.hp1 HG01256.hp1 HG01891.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0030 a0001c0001t0001g0031 others(9): Show |
12 | 58 | 0.2069 | 4 | c.*39 others(15): Show |
ACADL | ENSG00000115361.8 | transcript | ENST00000233710.4 | protein_coding | 2933 | chr2 | TogoVar | |||||||
ACADL_chr2_210182923_210230447 | 210214467 | A | AAAAG | intron_variant | MODIFIER | HG01943.hp2 HG02451.hp1 HG03579.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0081 others(3): Show |
6 | 27 | 0.2222 | 4 | c.536 others(21): Show |
ACADL | ENSG00000115361.8 | transcript | ENST00000233710.4 | protein_coding | 4/10 | chr2 | TogoVar | |||||||
ACADM_chr1_75719709_75768679 | 75725263 | A | AACCT | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01192.hp2 others(22): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0008 | a0001c0001t0001a0001c0002t0001a0004c0008t0001 | a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 others(22): Show |
25 | 294 | 0.0850 | 4 | c.30+ others(17): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
ACADM_chr1_75719709_75768679 | 75726366 | C | CAAAA | intron_variant | MODIFIER | HG01255.hp1 HG02280.hp1 HG03540.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 others(4): Show |
7 | 11 | 0.6364 | 4 | c.30+ others(19): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACADM_chr1_75719709_75768679 | 75736173 | T | TACAC | intron_variant | MODIFIER | HG00735.hp1 HG01361.hp1 HG01884.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0015 a0001c0001t0001g0088 a0001c0001t0001g0089 others(21): Show |
24 | 38 | 0.6316 | 4 | c.468 others(21): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACADM_chr1_75719709_75768679 | 75737279 | A | AATAT | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG01081.hp1 others(28): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 others(28): Show |
31 | 131 | 0.2366 | 4 | c.468 others(21): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACADM_chr1_75719709_75768679 | 75737910 | A | ATATT | intron_variant | MODIFIER | HG00735.hp2 HG01261.hp2 HG02723.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0302 a0001c0002t0001g0304 a0001c0002t0001g0305 |
3 | 362 | 0.0083 | 4 | c.469 others(21): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACADM_chr1_75719709_75768679 | 75747325 | T | TATAC | intron_variant | MODIFIER | HG01192.hp2 HG01891.hp1 HG02145.hp2 others(12): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0004c0008t0001 | a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 others(12): Show |
15 | 362 | 0.0414 | 4 | c.708 others(21): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACADM_chr1_75719709_75768679 | 75756424 | C | CACAT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(217): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(212): Show |
220 | 362 | 0.6077 | 4 | c.946 others(21): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACADM_chr1_75719709_75768679 | 75760544 | C | CAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00733.hp1 others(24): Show |
a0001a0003a0004 | a0001c0001a0003c0006a0004c0008 | a0001c0001t0001a0001c0001t0002a0003c0006t0002others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 others(24): Show |
27 | 48 | 0.5625 | 4 | c.946 others(19): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACADSB_chr10_123004006_123063290 | 123025466 | A | AAAAT | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00639.hp2 others(75): Show |
a0002a0003 | a0002c0003a0002c0010a0003c0004 | a0002c0003t0001a0002c0003t0003a0002c0003t0011others(16): Show | a0002c0003t0001g0005 a0002c0003t0001g0015 a0002c0003t0001g0035 others(48): Show |
78 | 341 | 0.2287 | 4 | c.43- others(19): Show |
ACADSB | ENSG00000196177.13 | transcript | ENST00000358776.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACADSB_chr10_123004006_123063290 | 123045167 | A | ATTTT | intron_variant | MODIFIER | HG01243.hp1 HG02109.hp2 HG02602.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0021 a0001c0002t0002g0103 a0001c0002t0002g0253 others(2): Show |
5 | 259 | 0.0193 | 4 | c.900 others(19): Show |
ACADSB | ENSG00000196177.13 | transcript | ENST00000358776.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACADS_chr12_120720826_120745008 | 120734753 | A | ATTTT | intron_variant | MODIFIER | HG01943.hp1 HG03017.hp2 HG03710.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0002 | a0001c0001t0001g0038 a0001c0001t0001g0063 a0001c0001t0001g0064 others(2): Show |
6 | 210 | 0.0286 | 4 | c.211 others(21): Show |
ACADS | ENSG00000122971.9 | transcript | ENST00000242592.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAN_chr15_88798436_88880353 | 88807747 | A | AGTGT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(143): Show |
a0001a0002a0003others(42): Show | a0001c0001a0001c0009a0001c0014others(65): Show | a0001c0001t0001a0001c0009t0001a0001c0014t0001others(67): Show | a0001c0001t0001g0022 a0001c0001t0001g0048 a0001c0001t0001g0055 others(139): Show |
146 | 186 | 0.7849 | 4 | c.-8+ others(19): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ACAN_chr15_88798436_88880353 | 88840786 | T | TAAAA | intron_variant | MODIFIER | HG02109.hp2 HG02615.hp1 HG03540.hp2 others(5): Show |
a0018a0027a0075others(1): Show | a0018c0016a0027c0147a0027c0149others(3): Show | a0018c0016t0001a0027c0147t0001a0027c0149t0001others(3): Show | a0018c0016t0001g0145 a0018c0016t0001g0146 a0018c0016t0001g0318 others(5): Show |
8 | 189 | 0.0423 | 4 | c.629 others(19): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ACAN_chr15_88798436_88880353 | 88853736 | T | TGATA | intron_variant | MODIFIER | NA18940.hp2 NA18955.hp1 NA19080.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 others(1): Show |
4 | 347 | 0.0115 | 4 | c.226 others(23): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ACAN_chr15_88798436_88880353 | 88853749 | G | GATAC | intron_variant | MODIFIER | HG02027.hp2 HG02155.hp2 NA18981.hp1 others(1): Show |
a0002 | a0002c0003a0002c0033a0002c0082 | a0002c0003t0001a0002c0033t0001a0002c0082t0001 | a0002c0003t0001g0061 a0002c0033t0001g0331 a0002c0033t0001g0338 others(1): Show |
4 | 354 | 0.0113 | 4 | c.226 others(23): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ACAN_chr15_88798436_88880353 | 88853753 | G | GATAC | intron_variant | MODIFIER | HG00323.hp2 HG01496.hp1 HG02135.hp2 others(13): Show |
a0001a0004a0007others(6): Show | a0001c0001a0004c0005a0007c0012others(9): Show | a0001c0001t0001a0004c0005t0001a0007c0012t0001others(10): Show | a0001c0001t0001g0044 a0004c0005t0001g0122 a0004c0005t0001g0185 others(13): Show |
16 | 146 | 0.1096 | 4 | c.226 others(23): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ACAN_chr15_88798436_88880353 | 88860072 | C | CTTTT | intron_variant | MODIFIER | HG00323.hp2 HG01109.hp2 HG01515.hp2 others(23): Show |
a0001a0004a0007others(9): Show | a0001c0001a0004c0005a0004c0027others(12): Show | a0001c0001t0001a0004c0005t0001a0004c0027t0001others(12): Show | a0001c0001t0001g0026 a0004c0005t0001g0025 a0004c0005t0001g0034 others(23): Show |
26 | 247 | 0.1053 | 4 | c.683 others(21): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ACAP1_chr17_7331529_7356477 | 7354528 | G | GGTGT | downstream_gene_variant | MODIFIER | HG02895.hp2 HG02970.hp1 HG03130.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0002g0051 a0001c0002t0001g0029 others(1): Show |
4 | 240 | 0.0167 | 4 | c.*31 others(15): Show |
ACAP1 | ENSG00000072818.12 | transcript | ENST00000158762.8 | protein_coding | 3052 | chr17 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195290813 | A | AAAAT | intron_variant | MODIFIER | HG00438.hp1 HG02615.hp1 HG03942.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0020 | a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0221 others(3): Show |
6 | 317 | 0.0189 | 4 | c.206 others(21): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 20/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195290849 | T | TAATA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00544.hp1 others(102): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0199 others(102): Show |
105 | 287 | 0.3659 | 4 | c.206 others(21): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 20/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195292921 | C | CAAAA | intron_variant | MODIFIER | HG01433.hp2 HG02027.hp1 HG02622.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0151 a0001c0001t0002g0196 a0001c0001t0002g0303 others(4): Show |
7 | 80 | 0.0875 | 4 | c.176 others(21): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 18/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195298302 | C | CGCCT | intron_variant | MODIFIER | HG02055.hp2 HG02630.hp2 HG02647.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0013a0001c0003t0026 | a0001c0003t0013g0206 a0001c0003t0013g0208 a0001c0003t0013g0209 others(1): Show |
4 | 322 | 0.0124 | 4 | c.139 others(23): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 15/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195299415 | C | CAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00673.hp1 others(35): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004a0001c0002t0015others(2): Show | a0001c0002t0001g0043 a0001c0002t0004g0004 a0001c0002t0004g0024 others(35): Show |
38 | 218 | 0.1743 | 4 | c.139 others(23): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 15/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195302439 | A | AGGAC | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00673.hp1 others(35): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004a0001c0002t0015others(2): Show | a0001c0002t0001g0043 a0001c0002t0004g0004 a0001c0002t0004g0024 others(35): Show |
38 | 322 | 0.1180 | 4 | c.111 others(21): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 13/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195302443 | C | CAGAG | intron_variant | MODIFIER | HG02055.hp2 HG02630.hp2 HG02647.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0013a0001c0003t0026 | a0001c0003t0013g0206 a0001c0003t0013g0208 a0001c0003t0013g0209 others(1): Show |
4 | 284 | 0.0141 | 4 | c.111 others(21): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 13/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195303596 | A | AATAC | intron_variant | MODIFIER | HG01257.hp1 HG03710.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0141 |
3 | 322 | 0.0093 | 4 | c.111 others(23): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 13/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195316390 | G | GTTTA | intron_variant | MODIFIER | HG02615.hp1 HG04184.hp2 NA18906.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0020a0001c0001t0037 | a0001c0001t0014g0138 a0001c0001t0020g0322 a0001c0001t0020g0324 others(1): Show |
4 | 322 | 0.0124 | 4 | c.857 others(21): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 10/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195341321 | G | GTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(4): Show | a0001c0001t0001g0271 a0001c0001t0006g0095 a0001c0001t0006g0098 others(13): Show |
16 | 63 | 0.2540 | 4 | c.528 others(21): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 6/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195351441 | C | CGTGT | intron_variant | MODIFIER | HG02615.hp1 HG03209.hp1 NA18949.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0020a0001c0003t0026 | a0001c0001t0003g0107 a0001c0001t0020g0322 a0001c0003t0026g0207 |
3 | 13 | 0.2308 | 4 | c.286 others(21): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 4/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195363622 | T | TACAC | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0308 a0001c0001t0008g0101 a0001c0001t0008g0132 |
3 | 310 | 0.0097 | 4 | c.285 others(23): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 4/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195378068 | G | GAGGA | intron_variant | MODIFIER | HG02615.hp1 NA18906.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0037 | a0001c0001t0020g0322 a0001c0001t0020g0324 a0001c0001t0037g0323 |
3 | 322 | 0.0093 | 4 | c.285 others(21): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 4/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195391224 | C | CTTTT | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00673.hp1 others(39): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0024a0001c0002t0001others(4): Show | a0001c0001t0001g0229 a0001c0001t0001g0273 a0001c0001t0001g0320 others(39): Show |
42 | 322 | 0.1304 | 4 | c.111 others(19): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 2/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195398637 | C | CTAAA | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00558.hp2 others(90): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(14): Show | a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0151 others(90): Show |
93 | 203 | 0.4581 | 4 | c.54- others(19): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 1/22 | chr3 | TogoVar |