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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACACA_chr17_37079992_37411836 | 37290756 | GGAA | G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(134): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0059a0001c0001t0001g0076a0001c0001t0001g0083others(134): Show | 137 | 299 | 0.4582 | -3 | c.339 others(20): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 3/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37316490 | CAAT | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00438.hp1 others(52): Show |
a0001a0002 | a0001c0003a0001c0012a0002c0013 | a0001c0003t0001a0001c0003t0002a0001c0003t0006others(6): Show | a0001c0003t0001g0054a0001c0003t0001g0056a0001c0003t0001g0058others(52): Show | 55 | 299 | 0.1840 | -3 | c.338 others(22): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 3/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37346384 | GGGA | G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(103): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0059a0001c0001t0001g0076a0001c0001t0001g0083others(103): Show | 106 | 299 | 0.3545 | -3 | c.39- others(18): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37353637 | TAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG01069.hp1 HG01099.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0177a0001c0001t0001g0205a0001c0001t0004g0161others(3): Show | 6 | 299 | 0.0201 | -3 | c.39- others(20): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37386590 | TCAA | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00558.hp1 others(34): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(9): Show | a0001c0001t0001g0053a0001c0001t0001g0059a0001c0001t0001g0076others(34): Show | 37 | 299 | 0.1238 | -3 | c.38+ others(20): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37386923 | TCCC | T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(43): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0015a0001c0002t0001others(6): Show | a0001c0001t0001g0203a0001c0001t0001g0213a0001c0001t0001g0252others(43): Show | 46 | 299 | 0.1539 | -3 | c.38+ others(20): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37390233 | TATA | T | intron_variant | MODIFIER | HG02055.hp1 HG02976.hp2 HG03139.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0049a0001c0002t0001g0097a0001c0002t0001g0101others(2): Show | 5 | 299 | 0.0167 | -3 | c.38+ others(20): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109112329 | TGTG | T | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01168.hp1 HG01169.hp2 others(4): Show |
a0001a0007a0013 | a0001c0010a0001c0058a0001c0064others(2): Show | a0001c0010t0001a0001c0010t0009a0001c0058t0016others(3): Show | a0001c0010t0001g0188a0001c0010t0009g0186a0001c0058t0016g0187others(4): Show | 7 | 308 | 0.0227 | -3 | c.-43 others(14): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 4257 | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109112688 | CAAA | C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG01074.hp1 others(3): Show |
a0001a0002a0006others(2): Show | a0001c0050a0002c0036a0006c0026others(3): Show | a0001c0050t0001a0002c0036t0006a0006c0026t0016others(3): Show | a0001c0050t0001g0277a0002c0036t0006g0223a0006c0026t0016g0066others(3): Show | 6 | 308 | 0.0195 | -3 | c.-40 others(14): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 3898 | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109133863 | ATTT | A | intron_variant | MODIFIER | HG02109.hp2 HG02896.hp1 HG02897.hp2 others(3): Show |
a0001 | a0001c0016a0001c0032a0001c0062 | a0001c0016t0009a0001c0032t0004a0001c0062t0019 | a0001c0016t0009g0287a0001c0016t0009g0290a0001c0016t0009g0305others(3): Show | 6 | 308 | 0.0195 | -3 | c.-9- others(18): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109166675 | AAAC | A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00544.hp1 others(80): Show |
a0001a0002a0003others(12): Show | a0001c0004a0001c0012a0001c0013others(32): Show | a0001c0004t0017a0001c0012t0002a0001c0013t0001others(37): Show | a0001c0004t0017g0003a0001c0012t0002g0045a0001c0012t0002g0250others(80): Show | 83 | 308 | 0.2695 | -3 | c.654 others(18): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109211020 | CGTT | C | intron_variant | MODIFIER | HG02145.hp2 HG03098.hp2 HG03195.hp1 others(2): Show |
a0007a0033a0035others(1): Show | a0007c0037a0007c0057a0033c0063others(2): Show | a0007c0037t0004a0007c0057t0004a0033c0063t0010others(2): Show | a0007c0037t0004g0200a0007c0057t0004g0207a0033c0063t0010g0117others(2): Show | 5 | 308 | 0.0162 | -3 | c.324 others(22): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACAD10_chr12_111681053_111762099 | 111703101 | AATT | A | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00597.hp1 others(78): Show |
a0001a0004a0010 | a0001c0002a0004c0005a0010c0011 | a0001c0002t0002a0004c0005t0002a0010c0011t0002 | a0001c0002t0002g0001a0001c0002t0002g0004a0001c0002t0002g0020others(73): Show | 81 | 336 | 0.2411 | -3 | c.336 others(18): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 3/20 | chr12 | TogoVar | ||||||
ACAD10_chr12_111681053_111762099 | 111718036 | CTTT | C | intron_variant | MODIFIER | HG01099.hp1 HG02109.hp2 HG02717.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0015a0001c0001t0001g0038a0001c0001t0001g0160others(7): Show | 10 | 336 | 0.0298 | -3 | c.992 others(20): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACAD10_chr12_111681053_111762099 | 111726568 | AAAC | A | intron_variant | MODIFIER | HG02723.hp1 HG03486.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039a0001c0001t0001g0068a0001c0001t0001g0082 | 3 | 336 | 0.0089 | -3 | c.106 others(22): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACAD10_chr12_111681053_111762099 | 111752278 | TTTG | T | intron_variant | MODIFIER | HG01993.hp1 HG02074.hp1 HG02135.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0210a0001c0001t0001g0211a0001c0001t0001g0212others(18): Show | 21 | 336 | 0.0625 | -3 | c.281 others(22): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACAD10_chr12_111681053_111762099 | 111755405 | CTGT | C | intron_variant | MODIFIER | HG00597.hp1 HG02027.hp2 HG02135.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0092a0001c0002t0002g0101a0001c0002t0002g0106others(6): Show | 9 | 336 | 0.0268 | -3 | c.296 others(20): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACAD11_chr3_132553141_132664809 | 132623534 | AAAG | A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(3): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0129a0001c0001t0001g0130a0001c0001t0001g0131others(3): Show | 6 | 316 | 0.0190 | -3 | c.119 others(22): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 9/19 | chr3 | TogoVar | ||||||
ACAD11_chr3_132553141_132664809 | 132633533 | CTCT | C | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG02258.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0161a0001c0001t0001g0162others(11): Show | 15 | 316 | 0.0475 | -3 | c.703 others(20): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 5/19 | chr3 | TogoVar | ||||||
ACAD11_chr3_132553141_132664809 | 132641560 | TGAA | T | intron_variant | MODIFIER | HG01123.hp1 HG01168.hp1 HG01169.hp2 others(24): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0003 | a0001c0001t0001a0001c0004t0001a0003c0003t0001 | a0001c0001t0001g0013a0001c0001t0001g0026a0001c0001t0001g0044others(23): Show | 27 | 316 | 0.0854 | -3 | c.537 others(18): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 4/19 | chr3 | TogoVar | ||||||
ACAD11_chr3_132553141_132664809 | 132641665 | GGAA | G | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG02109.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015a0001c0001t0002g0288a0001c0001t0002g0289 | 4 | 316 | 0.0127 | -3 | c.537 others(18): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 4/19 | chr3 | TogoVar | ||||||
ACAD11_chr3_132553141_132664809 | 132641698 | GGAA | G | intron_variant | MODIFIER | HG00323.hp2 HG01106.hp1 HG01168.hp2 others(4): Show |
a0002a0003 | a0002c0002a0002c0005a0003c0003 | a0002c0002t0001a0002c0005t0001a0003c0003t0001 | a0002c0002t0001g0012a0002c0002t0001g0266a0002c0002t0001g0267others(3): Show | 7 | 316 | 0.0222 | -3 | c.537 others(18): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 4/19 | chr3 | TogoVar | ||||||
ACAD11_chr3_132553141_132664809 | 132653631 | ACTC | A | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp2 HG00621.hp1 others(77): Show |
a0001a0002 | a0001c0001a0001c0009a0001c0010others(1): Show | a0001c0001t0001a0001c0009t0001a0001c0010t0001others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0009others(71): Show | 80 | 316 | 0.2532 | -3 | c.149 others(20): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 1/19 | chr3 | TogoVar | ||||||
ACAD11_chr3_132553141_132664809 | 132658716 | TTTA | T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(3): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0129a0001c0001t0001g0130a0001c0001t0001g0131others(3): Show | 6 | 316 | 0.0190 | -3 | c.149 others(18): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 1/19 | chr3 | TogoVar | ||||||
ACAD9_chr3_128874620_128918114 | 128893242 | CATG | C | intron_variant | MODIFIER | HG00639.hp1 HG01256.hp2 HG01258.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0045a0001c0003t0006g0046a0001c0003t0006g0255others(1): Show | 6 | 372 | 0.0161 | -3 | c.245 others(18): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACAD9_chr3_128874620_128918114 | 128894872 | ATTT | A | intron_variant | MODIFIER | HG02040.hp2 HG02055.hp2 HG02056.hp2 others(28): Show |
a0001a0004a0008 | a0001c0003a0001c0004a0001c0012others(3): Show | a0001c0003t0004a0001c0003t0005a0001c0004t0004others(4): Show | a0001c0003t0004g0050a0001c0003t0004g0054a0001c0003t0004g0061others(25): Show | 31 | 372 | 0.0833 | -3 | c.347 others(18): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACAD9_chr3_128874620_128918114 | 128897458 | TGAG | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG02148.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0128a0001c0002t0002g0160a0001c0002t0002g0161 | 3 | 372 | 0.0081 | -3 | c.555 others(18): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACAD9_chr3_128874620_128918114 | 128908004 | CCCT | C | intron_variant | MODIFIER | HG00738.hp2 HG01167.hp2 HG01169.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 4 | 372 | 0.0108 | -3 | c.127 others(20): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACAD9_chr3_128874620_128918114 | 128910196 | CCTG | C | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG01192.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0026a0001c0002t0002g0031a0001c0002t0002g0142 | 5 | 372 | 0.0134 | -3 | c.169 others(18): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACAD9_chr3_128874620_128918114 | 128915468 | TTTC | T | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01891.hp2 HG02965.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0088a0001c0003t0002g0089a0001c0003t0002g0186 | 3 | 372 | 0.0081 | -3 | c.*28 others(14): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 2355 | chr3 | TogoVar | ||||||
ACADL_chr2_210182923_210230447 | 210184925 | AAAG | A | downstream_gene_variant | MODIFIER | HG01081.hp1 HG01255.hp1 HG01261.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0103a0001c0001t0001g0209a0001c0001t0001g0212others(4): Show | 7 | 274 | 0.0256 | -3 | c.*40 others(14): Show |
ACADL | ENSG00000115361.8 | transcript | ENST00000233710.4 | protein_coding | 2997 | chr2 | TogoVar | ||||||
ACADM_chr1_75719709_75768679 | 75726800 | CTTT | C | intron_variant | MODIFIER | HG00558.hp1 HG02015.hp2 HG02071.hp2 others(20): Show |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0002a0005c0010t0002 | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0162others(18): Show | 23 | 364 | 0.0632 | -3 | c.31- others(18): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACADM_chr1_75719709_75768679 | 75731303 | AAAG | A | intron_variant | MODIFIER | HG00639.hp2 HG01884.hp1 HG02145.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263a0001c0001t0001g0266a0001c0001t0001g0267others(10): Show | 13 | 364 | 0.0357 | -3 | c.119 others(20): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACADM_chr1_75719709_75768679 | 75731795 | CAGG | C | intron_variant | MODIFIER | HG00639.hp2 HG01884.hp1 HG02145.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263a0001c0001t0001g0264a0001c0001t0001g0266others(12): Show | 15 | 364 | 0.0412 | -3 | c.119 others(18): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACADM_chr1_75719709_75768679 | 75760544 | CAAA | C | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG01978.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152a0001c0001t0002g0199a0001c0001t0002g0201others(6): Show | 9 | 364 | 0.0247 | -3 | c.946 others(18): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACADSB_chr10_123004006_123063290 | 123017691 | TAGA | T | intron_variant | MODIFIER | HG02300.hp2 HG02622.hp1 HG02630.hp1 others(3): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0014a0001c0001t0024a0001c0001t0033others(2): Show | a0001c0001t0014g0138a0001c0001t0024g0139a0001c0001t0033g0023others(3): Show | 6 | 374 | 0.0160 | -3 | c.42+ others(18): Show |
ACADSB | ENSG00000196177.13 | transcript | ENST00000358776.7 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ACADSB_chr10_123004006_123063290 | 123040356 | AAAT | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(314): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0008others(264): Show | 317 | 374 | 0.8476 | -3 | c.304 others(16): Show |
ACADSB | ENSG00000196177.13 | transcript | ENST00000358776.7 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACADSB_chr10_123004006_123063290 | 123045169 | ATAT | A | intron_variant | MODIFIER | HG01515.hp1 NA18956.hp2 NA18973.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0046 | a0001c0001t0001g0031a0001c0001t0001g0045a0001c0001t0001g0051others(4): Show | 7 | 374 | 0.0187 | -3 | c.900 others(18): Show |
ACADSB | ENSG00000196177.13 | transcript | ENST00000358776.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACADSB_chr10_123004006_123063290 | 123051188 | TAAA | T | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00733.hp1 others(14): Show |
a0003a0004 | a0003c0004a0004c0007a0004c0016 | a0003c0004t0006a0003c0004t0014a0003c0004t0030others(3): Show | a0003c0004t0006g0146a0003c0004t0006g0157a0003c0004t0006g0158others(14): Show | 17 | 374 | 0.0455 | -3 | c.112 others(18): Show |
ACADSB | ENSG00000196177.13 | transcript | ENST00000358776.7 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACADS_chr12_120720826_120745008 | 120742881 | GTAT | G | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(56): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0013a0001c0003t0014others(1): Show | a0001c0003t0003g0002a0001c0003t0003g0021a0001c0003t0003g0022others(36): Show | 59 | 426 | 0.1385 | -3 | c.*34 others(14): Show |
ACADS | ENSG00000122971.9 | transcript | ENST00000242592.9 | protein_coding | 2874 | chr12 | TogoVar | ||||||
ACAN_chr15_88798436_88880353 | 88806352 | ATTT | A | intron_variant | MODIFIER | HG00323.hp1 HG01257.hp1 NA18747.hp2 others(3): Show |
a0001a0002a0004others(3): Show | a0001c0002a0002c0001a0004c0005others(3): Show | a0001c0002t0001a0002c0001t0001a0004c0005t0001others(3): Show | a0001c0002t0001g0022a0002c0001t0001g0023a0004c0005t0001g0025others(3): Show | 6 | 368 | 0.0163 | -3 | c.-8+ others(18): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ACAN_chr15_88798436_88880353 | 88815655 | TTAA | T | intron_variant | MODIFIER | HG00741.hp2 HG01070.hp1 HG01256.hp1 others(6): Show |
a0005a0008a0025others(6): Show | a0005c0037a0008c0007a0025c0053others(6): Show | a0005c0037t0001a0008c0007t0001a0025c0053t0002others(6): Show | a0005c0037t0001g0355a0008c0007t0001g0139a0025c0053t0002g0164others(6): Show | 9 | 368 | 0.0245 | -3 | c.-8+ others(20): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 1/18 | chr15 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195290846 | AAAT | A | intron_variant | MODIFIER | HG01934.hp1 HG01975.hp1 HG02055.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012 | a0001c0001t0002g0317a0001c0001t0002g0318a0001c0001t0012g0108others(1): Show | 4 | 324 | 0.0124 | -3 | c.206 others(20): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 20/22 | chr3 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195294606 | AAAT | A | intron_variant | MODIFIER | HG01069.hp1 HG02615.hp1 HG02622.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020a0001c0001t0023others(1): Show | a0001c0001t0001g0151a0001c0001t0001g0169a0001c0001t0001g0171others(6): Show | 9 | 324 | 0.0278 | -3 | c.176 others(20): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 18/22 | chr3 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195298252 | CTTT | C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(93): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(6): Show | a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0022others(93): Show | 96 | 324 | 0.2963 | -3 | c.139 others(20): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 15/22 | chr3 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195306852 | TAAA | T | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00673.hp1 others(35): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004a0001c0002t0015others(2): Show | a0001c0002t0001g0043a0001c0002t0004g0004a0001c0002t0004g0024others(35): Show | 38 | 324 | 0.1173 | -3 | c.101 others(20): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 12/22 | chr3 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195337446 | CTTT | C | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00673.hp1 others(34): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004a0001c0002t0015others(2): Show | a0001c0002t0001g0043a0001c0002t0004g0004a0001c0002t0004g0024others(34): Show | 37 | 324 | 0.1142 | -3 | c.529 others(18): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 6/22 | chr3 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195360984 | CAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(97): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(9): Show | a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0022others(97): Show | 100 | 324 | 0.3086 | -3 | c.286 others(22): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 4/22 | chr3 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195370952 | CAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(102): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(10): Show | a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0022others(102): Show | 105 | 324 | 0.3241 | -3 | c.285 others(22): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 4/22 | chr3 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195375507 | CAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(106): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(14): Show | a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0022others(106): Show | 109 | 324 | 0.3364 | -3 | c.285 others(20): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 4/22 | chr3 | TogoVar |