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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACACA_chr17_37079992_37411836 | 37314104 | C | CTT | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00438.hp2 others(89): Show |
a0001 | a0001c0001a0001c0005a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0053 others(89): Show |
92 | 240 | 0.3833 | 2 | c.338 others(21): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 3/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37316302 | T | TAC | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG01069.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(7): Show | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0002g0028 others(17): Show |
20 | 163 | 0.1227 | 2 | c.338 others(21): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 3/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37325579 | C | CTT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(80): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0084 others(80): Show |
83 | 207 | 0.4010 | 2 | c.338 others(19): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 3/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37326206 | C | CAA | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp2 HG02109.hp2 others(9): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0004t0005others(1): Show | a0001c0001t0001g0193 a0001c0001t0003g0116 a0001c0004t0005g0040 others(9): Show |
12 | 242 | 0.0496 | 2 | c.338 others(19): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 3/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37327273 | C | CAT | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG01891.hp2 others(16): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0027others(2): Show | a0001c0001t0001g0138 a0001c0001t0001g0180 a0001c0001t0001g0193 others(16): Show |
19 | 298 | 0.0638 | 2 | c.338 others(19): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 3/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37329640 | C | CAA | intron_variant | MODIFIER | HG00609.hp2 HG01884.hp1 HG02647.hp1 others(6): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(3): Show | a0001c0001t0001g0180 a0001c0001t0001g0187 a0001c0001t0001g0218 others(6): Show |
9 | 154 | 0.0584 | 2 | c.338 others(17): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 3/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37337415 | C | CAA | intron_variant | MODIFIER | HG00438.hp2 HG02258.hp1 HG02486.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0053 others(3): Show |
6 | 213 | 0.0282 | 2 | c.85+ others(17): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 2/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37346316 | C | CAA | intron_variant | MODIFIER | HG02622.hp2 HG03225.hp2 HG03491.hp2 others(9): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0031others(1): Show | a0001c0001t0001g0139 a0001c0001t0003g0112 a0001c0001t0003g0121 others(9): Show |
12 | 172 | 0.0698 | 2 | c.39- others(17): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37349378 | C | CAT | intron_variant | MODIFIER | HG01099.hp2 HG01167.hp1 HG01952.hp1 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002 | a0001c0003t0001g0109 a0001c0003t0002g0010 a0001c0003t0002g0024 |
3 | 298 | 0.0101 | 2 | c.39- others(17): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37353637 | T | TAA | intron_variant | MODIFIER | HG00140.hp2 HG01106.hp2 HG01109.hp2 others(21): Show |
a0001a0004 | a0001c0002a0001c0003a0004c0014 | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(3): Show | a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0101 others(21): Show |
24 | 51 | 0.4706 | 2 | c.39- others(19): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37363179 | C | CTT | intron_variant | MODIFIER | HG02486.hp1 HG02622.hp2 HG03130.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0031a0001c0002t0001others(1): Show | a0001c0001t0003g0045 a0001c0001t0031g0296 a0001c0002t0001g0229 others(3): Show |
6 | 125 | 0.0480 | 2 | c.39- others(19): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37367089 | G | GAA | intron_variant | MODIFIER | HG00738.hp2 HG01496.hp1 HG01993.hp2 others(9): Show |
a0001a0005 | a0001c0002a0001c0010a0005c0016 | a0001c0002t0001a0001c0002t0024a0001c0010t0001others(1): Show | a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0229 others(9): Show |
12 | 298 | 0.0403 | 2 | c.39- others(19): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37367095 | A | AAT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0060 a0001c0001t0001g0084 a0001c0001t0001g0143 others(31): Show |
34 | 298 | 0.1141 | 2 | c.39- others(19): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37370484 | T | TAA | intron_variant | MODIFIER | HG00733.hp1 HG01358.hp2 HG02145.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0005a0001c0004t0030others(1): Show | a0001c0001t0001g0260 a0001c0004t0005g0044 a0001c0004t0005g0125 others(4): Show |
7 | 243 | 0.0288 | 2 | c.39- others(19): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37390140 | G | GTA | intron_variant | MODIFIER | HG01261.hp1 HG02886.hp1 HG02965.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0009a0001c0002t0002others(1): Show | a0001c0001t0002g0020 a0001c0001t0002g0028 a0001c0001t0002g0034 others(4): Show |
7 | 142 | 0.0493 | 2 | c.38+ others(19): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37390304 | T | TTA | intron_variant | MODIFIER | HG00323.hp2 HG01099.hp2 HG01106.hp1 others(6): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0001a0001c0003t0002others(1): Show | a0001c0002t0002g0005 a0001c0002t0002g0013 a0001c0003t0001g0107 others(6): Show |
9 | 202 | 0.0446 | 2 | c.38+ others(19): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37390324 | A | ATC | intron_variant | MODIFIER | HG02486.hp1 HG02622.hp2 HG02647.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0031a0001c0004t0005 | a0001c0001t0003g0045 a0001c0001t0031g0296 a0001c0004t0005g0044 |
3 | 298 | 0.0101 | 2 | c.38+ others(19): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37390330 | A | ATC | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp1 HG02451.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0011 | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0096 others(3): Show |
6 | 61 | 0.0984 | 2 | c.38+ others(19): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37396339 | C | CAA | intron_variant | MODIFIER | HG00438.hp1 HG01981.hp1 HG02055.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(3): Show | a0001c0001t0001g0136 a0001c0001t0003g0112 a0001c0001t0003g0121 others(14): Show |
17 | 73 | 0.2329 | 2 | c.38+ others(17): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37398281 | C | CTT | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG01433.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0060 a0001c0001t0001g0136 a0001c0001t0001g0179 others(19): Show |
22 | 155 | 0.1419 | 2 | c.38+ others(17): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37404570 | A | ATT | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG01175.hp2 others(35): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(9): Show | a0001c0001t0001g0060 a0001c0001t0001g0077 a0001c0001t0003g0041 others(35): Show |
38 | 194 | 0.1959 | 2 | c.38+ others(17): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37405855 | C | CTT | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00609.hp1 others(52): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(11): Show | a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0193 others(52): Show |
55 | 211 | 0.2607 | 2 | c.38+ others(15): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37409767 | C | CAA | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG01106.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0217 a0001c0001t0003g0091 a0001c0002t0001g0106 others(7): Show |
10 | 118 | 0.0847 | 2 | c.-34 others(13): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 2932 | chr17 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109113649 | C | CTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(196): Show |
a0001a0002a0003others(31): Show | a0001c0002a0001c0003a0001c0004others(97): Show | a0001c0002t0001a0001c0002t0008a0001c0002t0021others(114): Show | a0001c0002t0001g0002 a0001c0002t0001g0235 a0001c0002t0001g0280 others(195): Show |
199 | 306 | 0.6503 | 2 | c.-30 others(13): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2937 | chr12 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109117047 | C | CTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00558.hp1 others(67): Show |
a0001a0002a0003others(11): Show | a0001c0002a0001c0003a0001c0016others(46): Show | a0001c0002t0001a0001c0002t0008a0001c0003t0004others(51): Show | a0001c0002t0001g0280 a0001c0002t0001g0282 a0001c0002t0008g0304 others(67): Show |
70 | 224 | 0.3125 | 2 | c.-10 others(17): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109122572 | C | CAA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00558.hp1 others(36): Show |
a0001a0002a0003others(8): Show | a0001c0002a0001c0003a0001c0004others(26): Show | a0001c0002t0008a0001c0003t0004a0001c0004t0017others(29): Show | a0001c0002t0008g0304 a0001c0003t0004g0298 a0001c0004t0017g0004 others(36): Show |
39 | 167 | 0.2335 | 2 | c.-10 others(19): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109133240 | T | TTC | intron_variant | MODIFIER | HG02257.hp2 HG02970.hp1 HG03579.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0049others(1): Show | a0001c0002t0001a0001c0003t0004a0001c0049t0001others(1): Show | a0001c0002t0001g0074 a0001c0003t0004g0075 a0001c0049t0001g0283 others(1): Show |
4 | 161 | 0.0248 | 2 | c.-9- others(17): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109133836 | C | CAT | intron_variant | MODIFIER | HG00597.hp2 HG00639.hp2 HG01069.hp1 others(10): Show |
a0001a0002a0007others(1): Show | a0001c0002a0001c0048a0001c0050others(8): Show | a0001c0002t0001a0001c0048t0004a0001c0050t0001others(9): Show | a0001c0002t0001g0191 a0001c0048t0004g0305 a0001c0050t0001g0274 others(10): Show |
13 | 256 | 0.0508 | 2 | c.-9- others(17): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109135808 | C | CTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(115): Show |
a0001a0002a0003others(17): Show | a0001c0010a0001c0012a0001c0013others(43): Show | a0001c0010t0001a0001c0010t0002a0001c0010t0009others(52): Show | a0001c0010t0001g0187 a0001c0010t0002g0259 a0001c0010t0009g0188 others(115): Show |
118 | 199 | 0.5930 | 2 | c.-9- others(17): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109137899 | C | CTT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(50): Show |
a0001a0002a0003others(16): Show | a0001c0010a0001c0012a0001c0013others(31): Show | a0001c0010t0002a0001c0012t0002a0001c0013t0001others(33): Show | a0001c0010t0002g0259 a0001c0012t0002g0045 a0001c0012t0002g0248 others(50): Show |
53 | 216 | 0.2454 | 2 | c.-9- others(17): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109143462 | C | CAA | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00558.hp2 others(76): Show |
a0001a0002a0006others(10): Show | a0001c0002a0001c0003a0001c0023others(33): Show | a0001c0002t0001a0001c0002t0008a0001c0002t0021others(40): Show | a0001c0002t0001g0002 a0001c0002t0001g0074 a0001c0002t0001g0079 others(75): Show |
79 | 144 | 0.5486 | 2 | c.653 others(19): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109144750 | C | CTT | intron_variant | MODIFIER | HG00323.hp1 HG01884.hp1 HG02074.hp2 others(10): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0060a0001c0108others(8): Show | a0001c0002t0008a0001c0060t0002a0001c0108t0001others(9): Show | a0001c0002t0008g0304 a0001c0060t0002g0270 a0001c0108t0001g0011 others(10): Show |
13 | 86 | 0.1512 | 2 | c.653 others(19): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109150982 | C | CTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00558.hp1 others(43): Show |
a0001a0002a0003others(10): Show | a0001c0010a0001c0022a0001c0034others(27): Show | a0001c0010t0001a0001c0010t0009a0001c0022t0004others(29): Show | a0001c0010t0001g0187 a0001c0010t0009g0188 a0001c0022t0004g0005 others(43): Show |
46 | 203 | 0.2266 | 2 | c.653 others(21): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109161731 | T | TTG | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp1 others(91): Show |
a0001a0002a0007others(10): Show | a0001c0002a0001c0003a0001c0010others(34): Show | a0001c0002t0001a0001c0002t0008a0001c0002t0021others(44): Show | a0001c0002t0001g0002 a0001c0002t0001g0035 a0001c0002t0001g0074 others(90): Show |
94 | 280 | 0.3357 | 2 | c.654 others(19): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109164717 | A | ATT | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG00621.hp2 others(66): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0003a0001c0013others(21): Show | a0001c0002t0001a0001c0003t0004a0001c0013t0001others(28): Show | a0001c0002t0001g0114 a0001c0003t0004g0298 a0001c0013t0001g0136 others(66): Show |
69 | 164 | 0.4207 | 2 | c.654 others(19): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109167617 | A | ATG | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG03710.hp1 |
a0001 | a0001c0034a0001c0048 | a0001c0034t0001a0001c0048t0002 | a0001c0034t0001g0211 a0001c0034t0001g0212 a0001c0048t0002g0279 |
3 | 306 | 0.0098 | 2 | c.787 others(17): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 3/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109167621 | G | GTA | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG01081.hp2 others(19): Show |
a0001a0002a0006others(2): Show | a0001c0002a0001c0003a0001c0010others(10): Show | a0001c0002t0001a0001c0003t0002a0001c0010t0002others(11): Show | a0001c0002t0001g0106 a0001c0002t0001g0110 a0001c0002t0001g0191 others(19): Show |
22 | 113 | 0.1947 | 2 | c.787 others(17): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 3/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109171013 | A | ATT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(57): Show |
a0001a0002a0006others(6): Show | a0001c0002a0001c0003a0001c0023others(20): Show | a0001c0002t0001a0001c0003t0002a0001c0003t0004others(25): Show | a0001c0002t0001g0002 a0001c0002t0001g0035 a0001c0002t0001g0079 others(56): Show |
60 | 215 | 0.2791 | 2 | c.926 others(17): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 4/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109181840 | C | CTT | intron_variant | MODIFIER | HG01515.hp1 HG01943.hp2 HG02717.hp1 others(13): Show |
a0001a0002a0003others(3): Show | a0001c0010a0001c0022a0001c0029others(11): Show | a0001c0010t0001a0001c0010t0009a0001c0022t0004others(12): Show | a0001c0010t0001g0187 a0001c0010t0009g0188 a0001c0022t0004g0005 others(13): Show |
16 | 90 | 0.1778 | 2 | c.181 others(21): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 11/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109194511 | C | CGT | intron_variant | MODIFIER | HG00609.hp2 HG02080.hp2 NA19010.hp1 |
a0003a0023a0038 | a0003c0001a0023c0084a0038c0093 | a0003c0001t0001a0023c0084t0004a0038c0093t0001 | a0003c0001t0001g0138 a0023c0084t0004g0253 a0038c0093t0001g0160 |
3 | 227 | 0.0132 | 2 | c.248 others(19): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 16/52 | chr12 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109194512 | A | ATG | intron_variant | MODIFIER | HG01943.hp1 HG02896.hp2 HG02922.hp2 others(3): Show |
a0001a0002a0027 | a0001c0069a0002c0007a0002c0017others(3): Show | a0001c0069t0002a0002c0007t0003a0002c0017t0024others(3): Show | a0001c0069t0002g0204 a0002c0007t0003g0016 a0002c0017t0024g0044 others(3): Show |
6 | 177 | 0.0339 | 2 | c.248 others(19): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 16/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109194610 | C | CTG | intron_variant | MODIFIER | HG00609.hp1 HG00735.hp2 HG01258.hp1 others(17): Show |
a0001a0002a0006others(2): Show | a0001c0011a0001c0016a0001c0022others(12): Show | a0001c0011t0001a0001c0016t0009a0001c0022t0004others(13): Show | a0001c0011t0001g0054 a0001c0016t0009g0287 a0001c0022t0004g0005 others(17): Show |
20 | 165 | 0.1212 | 2 | c.248 others(19): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 16/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109209767 | A | ATG | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp2 HG02559.hp1 others(4): Show |
a0001a0002a0007others(2): Show | a0001c0002a0001c0010a0001c0064others(4): Show | a0001c0002t0001a0001c0010t0001a0001c0064t0009others(4): Show | a0001c0002t0001g0074 a0001c0010t0001g0187 a0001c0064t0009g0184 others(4): Show |
7 | 306 | 0.0229 | 2 | c.324 others(19): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109209912 | C | CGT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(76): Show |
a0001a0002a0003others(17): Show | a0001c0002a0001c0003a0001c0010others(41): Show | a0001c0002t0001a0001c0003t0002a0001c0003t0004others(47): Show | a0001c0002t0001g0035 a0001c0002t0001g0074 a0001c0002t0001g0079 others(76): Show |
79 | 267 | 0.2959 | 2 | c.324 others(19): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109209944 | C | CGT | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00544.hp1 others(55): Show |
a0001a0002a0003others(8): Show | a0001c0002a0001c0003a0001c0010others(19): Show | a0001c0002t0001a0001c0003t0002a0001c0010t0002others(22): Show | a0001c0002t0001g0035 a0001c0002t0001g0074 a0001c0002t0001g0079 others(55): Show |
58 | 299 | 0.1940 | 2 | c.324 others(19): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | chr12 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109209946 | C | CAT | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02615.hp1 others(12): Show |
a0001a0002a0006others(4): Show | a0001c0039a0001c0069a0001c0074others(10): Show | a0001c0039t0004a0001c0069t0002a0001c0074t0004others(11): Show | a0001c0039t0004g0116 a0001c0069t0002g0204 a0001c0074t0004g0229 others(12): Show |
15 | 294 | 0.0510 | 2 | c.324 others(19): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | chr12 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109209947 | G | GTA | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00544.hp1 others(59): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0003a0001c0010others(20): Show | a0001c0002t0001a0001c0003t0002a0001c0010t0002others(23): Show | a0001c0002t0001g0035 a0001c0002t0001g0074 a0001c0002t0001g0079 others(59): Show |
62 | 281 | 0.2206 | 2 | c.324 others(19): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109209967 | A | ATG | intron_variant | MODIFIER | HG01884.hp1 HG02559.hp2 HG03579.hp1 others(2): Show |
a0001a0002a0006others(2): Show | a0001c0003a0002c0017a0006c0113others(2): Show | a0001c0003t0004a0002c0017t0003a0006c0113t0004others(2): Show | a0001c0003t0004g0075 a0002c0017t0003g0040 a0006c0113t0004g0031 others(2): Show |
5 | 306 | 0.0163 | 2 | c.324 others(19): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | chr12 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109209981 | A | ATG | intron_variant | MODIFIER | HG00280.hp2 HG02723.hp2 HG02965.hp1 others(3): Show |
a0001a0002a0038 | a0001c0010a0001c0011a0001c0013others(3): Show | a0001c0010t0001a0001c0011t0001a0001c0013t0001others(3): Show | a0001c0010t0001g0187 a0001c0011t0001g0014 a0001c0013t0001g0255 others(3): Show |
6 | 301 | 0.0199 | 2 | c.324 others(19): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | chr12 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109210116 | T | TAC | intron_variant | MODIFIER | HG01891.hp1 HG02056.hp2 HG03225.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0069a0001c0074a0001c0124others(3): Show | a0001c0069t0002a0001c0074t0004a0001c0124t0012others(3): Show | a0001c0069t0002g0204 a0001c0074t0004g0229 a0001c0124t0012g0197 others(3): Show |
6 | 298 | 0.0201 | 2 | c.324 others(19): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |