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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABI3BP_chr3_100744156_100998421 | 100851943 | T | TAAA | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00323.hp1 HG00642.hp2 others(33): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0004a0001c0005others(15): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(27): Show | a0001c0001t0003g0085 a0001c0001t0003g0112 a0001c0001t0005g0096 others(33): Show |
36 | 189 | 0.1905 | 3 | c.128 others(16): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 14/67 | chr3 | TogoVar | |||||||
ABI3BP_chr3_100744156_100998421 | 100851943 | T | TAAAA | splice_region_variant others(1): Show |
LOW | HG00733.hp1 HG00741.hp1 HG01071.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0013a0003c0050 | a0001c0001t0021a0001c0013t0002a0001c0013t0005others(1): Show | a0001c0001t0021g0076 a0001c0013t0002g0116 a0001c0013t0005g0114 others(2): Show |
5 | 158 | 0.0316 | 4 | c.128 others(17): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 14/67 | chr3 | TogoVar | |||||||
ABI3_chr17_49205707_49228225 | 49219853 | G | C | splice_region_variant others(1): Show |
LOW | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 446 | 0.0022 | 0 | c.549 others(5): Show |
ABI3 | ENSG00000108798.9 | transcript | ENST00000225941.6 | protein_coding | 4/7 | chr17 | TogoVar | |||||||
ABL1_chr9_130830254_130892675 | 130880156 | C | T | splice_region_variant others(1): Show |
LOW | HG03225.hp2 | a0001 | a0001c0026 | a0001c0026t0029 | a0001c0026t0029g0250 | 1 | 276 | 0.0036 | 0 | c.151 others(4): Show |
p.Asp others(6): Show |
ABL1 | ENSG00000097007.20 | transcript | ENST00000318560.6 | protein_coding | 9/11 | 1705/5578 | 1512/3393 | 504/1130 | chr9 | TogoVar | |||
ABL1_chr9_130830254_130892675 | 130880163 | G | T | splice_region_variant others(1): Show |
LOW | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 276 | 0.0036 | 0 | c.151 others(6): Show |
ABL1 | ENSG00000097007.20 | transcript | ENST00000318560.6 | protein_coding | 9/10 | chr9 | TogoVar | |||||||
ABL1_chr9_130830254_130892675 | 130880663 | C | T | splice_region_variant others(1): Show |
LOW | HG02723.hp1 | a0001 | a0001c0025 | a0001c0025t0018 | a0001c0025t0018g0047 | 1 | 276 | 0.0036 | 0 | c.167 others(4): Show |
p.Ser others(6): Show |
ABL1 | ENSG00000097007.20 | transcript | ENST00000318560.6 | protein_coding | 10/11 | 1870/5578 | 1677/3393 | 559/1130 | chr9 | TogoVar | |||
ABL2_chr1_179094330_179234677 | 179115036 | T | C | splice_region_variant others(1): Show |
LOW | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0064 | 1 | 348 | 0.0029 | 0 | c.140 others(6): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 8/11 | chr1 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114437932 | G | T | splice_region_variant others(1): Show |
LOW | NA19063.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0054 | 1 | 254 | 0.0039 | 0 | c.214 others(6): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 21/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114439169 | C | T | splice_region_variant others(1): Show |
LOW | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0127 | a0001c0001t0127g0229 | 1 | 254 | 0.0039 | 0 | c.214 others(6): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 21/22 | chr10 | TogoVar | |||||||
ABLIM2_chr4_7960327_8163813 | 7983559 | A | AAG | splice_region_variant others(1): Show |
LOW | HG02451.hp1 HG03139.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012a0001c0001t0014others(1): Show | a0001c0001t0002g0010 a0001c0001t0012g0008 a0001c0001t0014g0036 others(1): Show |
4 | 320 | 0.0125 | 2 | c.173 others(15): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 18/20 | chr4 | TogoVar | |||||||
ABLIM2_chr4_7960327_8163813 | 8020311 | C | T | splice_region_variant others(1): Show |
LOW | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0132 | 1 | 320 | 0.0031 | 0 | c.126 others(6): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 12/20 | chr4 | TogoVar | |||||||
ABLIM2_chr4_7960327_8163813 | 8060962 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(302): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 others(302): Show |
305 | 320 | 0.9531 | 0 | c.763 others(5): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 7/20 | chr4 | TogoVar | |||||||
ABLIM2_chr4_7960327_8163813 | 8060963 | G | A | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(237): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0023 others(237): Show |
240 | 320 | 0.7500 | 0 | c.763 others(5): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 7/20 | chr4 | TogoVar | |||||||
ABLIM2_chr4_7960327_8163813 | 8077729 | G | A | splice_region_variant others(1): Show |
LOW | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0287 | 1 | 320 | 0.0031 | 0 | c.582 others(5): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 5/20 | chr4 | TogoVar | |||||||
ABLIM2_chr4_7960327_8163813 | 8080669 | C | A | splice_region_variant others(1): Show |
LOW | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0310 | 1 | 320 | 0.0031 | 0 | c.581 others(5): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 5/20 | chr4 | TogoVar | |||||||
ABLIM3_chr5_149136493_149265542 | 149230713 | C | A | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00323.hp1 HG00438.hp1 others(101): Show |
a0001 | a0001c0001a0001c0006a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0044 others(99): Show |
104 | 256 | 0.4063 | 0 | c.816 others(5): Show |
ABLIM3 | ENSG00000173210.21 | transcript | ENST00000309868.12 | protein_coding | 9/23 | chr5 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1007161 | G | A | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00323.hp2 HG00609.hp2 others(106): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(26): Show | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 others(106): Show |
109 | 336 | 0.3244 | 0 | c.249 others(6): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 22/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1009674 | G | A | splice_region_variant others(1): Show |
LOW | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(54): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(11): Show | a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0061 others(54): Show |
57 | 336 | 0.1696 | 0 | c.234 others(6): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 21/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1013098 | G | A | splice_region_variant others(1): Show |
LOW | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0046 | 1 | 336 | 0.0030 | 0 | c.185 others(6): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 17/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1079395 | C | A | splice_region_variant others(1): Show |
LOW | HG02895.hp1 HG03098.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0023 | a0001c0001t0001g0123 a0001c0001t0003g0111 a0001c0001t0023g0034 |
3 | 336 | 0.0089 | 0 | c.640 others(5): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 5/22 | chr17 | TogoVar | |||||||
ABT1_chr6_26591953_26605739 | 26597915 | C | G | missense_variant others(1): Show |
MODERATE | NA19068.hp1 | a0003 | a0003c0007 | a0003c0007t0018 | a0003c0007t0018g0005 | 1 | 408 | 0.0025 | 0 | c.243 others(3): Show |
p.Asp others(5): Show |
ABT1 | ENSG00000146109.5 | transcript | ENST00000274849.3 | protein_coding | 2/3 | 273/2943 | 243/819 | 81/272 | chr6 | TogoVar | |||
ACAA2_chr18_49777164_49818533 | 49785358 | A | G | splice_region_variant others(1): Show |
LOW | NA18970.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0115 | 1 | 432 | 0.0023 | 0 | c.955 others(5): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 8/9 | chr18 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49787284 | C | A | splice_region_variant others(1): Show |
LOW | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 432 | 0.0023 | 0 | c.954 others(5): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 8/9 | chr18 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49802853 | C | T | missense_variant others(1): Show |
MODERATE | NA18522.hp2 | a0005 | a0005c0005 | a0005c0005t0008 | a0005c0005t0008g0233 | 1 | 432 | 0.0023 | 0 | c.17G others(2): Show |
p.Gly others(4): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 2/10 | 66/2926 | 17/1194 | 6/397 | chr18 | TogoVar | |||
ACAA2_chr18_49777164_49818533 | 49802858 | T | C | splice_region_variant others(1): Show |
LOW | NA18953.hp2 NA18971.hp1 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 3 | 432 | 0.0069 | 0 | c.17- others(4): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37181363 | G | C | splice_region_variant others(1): Show |
LOW | HG02486.hp1 HG02622.hp2 HG02647.hp1 others(11): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0031others(1): Show | a0001c0001t0001g0187 a0001c0001t0003g0045 a0001c0001t0003g0112 others(11): Show |
14 | 291 | 0.0481 | 0 | c.477 others(6): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 39/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37181363 | G | GA | splice_region_variant others(1): Show |
LOW | HG01884.hp2 HG02055.hp2 HG02572.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0008 | a0001c0002t0001g0113 a0001c0002t0001g0133 a0001c0002t0001g0244 others(4): Show |
7 | 284 | 0.0246 | 1 | c.477 others(7): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 39/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37235105 | C | T | splice_region_variant others(1): Show |
LOW | HG02145.hp1 HG02809.hp2 HG03139.hp2 others(1): Show |
a0001 | a0001c0004a0001c0006 | a0001c0004t0005a0001c0006t0005 | a0001c0004t0005g0118 a0001c0004t0005g0119 a0001c0004t0005g0277 others(1): Show |
4 | 298 | 0.0134 | 0 | c.312 others(6): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 24/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37248681 | G | GAAC | splice_region_variant others(1): Show |
LOW | HG01884.hp2 HG02055.hp2 HG02572.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0008 | a0001c0002t0001g0133 a0001c0002t0001g0269 a0001c0002t0008g0039 others(2): Show |
5 | 298 | 0.0168 | 3 | c.208 others(17): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 16/55 | chr17 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109166863 | C | T | missense_variant others(1): Show |
MODERATE | NA19010.hp1 | a0038 | a0038c0093 | a0038c0093t0001 | a0038c0093t0001g0160 | 1 | 306 | 0.0033 | 0 | c.656 others(3): Show |
p.Pro others(6): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 3/53 | 783/9368 | 656/7377 | 219/2458 | chr12 | TogoVar | |||
ACACB_chr12_109111587_109273226 | 109179083 | G | A | splice_region_variant others(1): Show |
LOW | HG03098.hp2 | a0028 | a0028c0076 | a0028c0076t0010 | a0028c0076t0010g0265 | 1 | 306 | 0.0033 | 0 | c.143 others(6): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 9/52 | chr12 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109199557 | C | T | splice_region_variant others(1): Show |
LOW | NA19060.hp2 | a0006 | a0006c0078 | a0006c0078t0001 | a0006c0078t0001g0181 | 1 | 306 | 0.0033 | 0 | c.277 others(6): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 18/52 | chr12 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109209157 | C | T | splice_region_variant others(1): Show |
LOW | NA18993.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0047 | 1 | 306 | 0.0033 | 0 | c.306 others(6): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 20/52 | chr12 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109222793 | C | T | splice_region_variant others(1): Show |
LOW | HG00642.hp2 HG00741.hp2 HG01255.hp1 |
a0002a0003a0004 | a0002c0024a0003c0001a0004c0008 | a0002c0024t0003a0003c0001t0001a0004c0008t0001 | a0002c0024t0003g0300 a0003c0001t0001g0151 a0004c0008t0001g0222 |
3 | 306 | 0.0098 | 0 | c.367 others(6): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 25/52 | chr12 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109232663 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(239): Show |
a0001a0002a0003others(33): Show | a0001c0002a0001c0003a0001c0004others(101): Show | a0001c0002t0001a0001c0002t0021a0001c0003t0002others(121): Show | a0001c0002t0001g0002 a0001c0002t0001g0035 a0001c0002t0001g0074 others(238): Show |
242 | 306 | 0.7909 | 0 | c.400 others(6): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 28/52 | chr12 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109233933 | C | A | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(31): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0010a0001c0011others(21): Show | a0001c0002t0001a0001c0010t0001a0001c0011t0001others(22): Show | a0001c0002t0001g0074 a0001c0002t0001g0079 a0001c0002t0001g0085 others(31): Show |
34 | 306 | 0.1111 | 0 | c.424 others(6): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 30/52 | chr12 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109246452 | C | T | splice_region_variant others(1): Show |
LOW | HG03453.hp2 NA20300.hp2 |
a0001a0006 | a0001c0124a0006c0031 | a0001c0124t0012a0006c0031t0013 | a0001c0124t0012g0197 a0006c0031t0013g0205 |
2 | 306 | 0.0065 | 0 | c.557 others(6): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 39/52 | chr12 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109265287 | C | T | splice_region_variant others(1): Show |
LOW | HG02559.hp1 HG03486.hp2 HG06807.hp2 others(1): Show |
a0007a0014 | a0007c0037a0007c0104a0014c0114others(1): Show | a0007c0037t0004a0007c0104t0004a0014c0114t0004others(1): Show | a0007c0037t0004g0073 a0007c0104t0004g0183 a0014c0114t0004g0010 others(1): Show |
4 | 306 | 0.0131 | 0 | c.711 others(6): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 51/52 | chr12 | TogoVar | |||||||
ACAD10_chr12_111681053_111762099 | 111692904 | A | G | splice_region_variant others(1): Show |
LOW | HG00408.hp1 HG00544.hp1 HG00597.hp1 others(96): Show |
a0001a0004a0010 | a0001c0002a0004c0005a0010c0011 | a0001c0002t0002a0004c0005t0002a0010c0011t0002 | a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0016 others(91): Show |
99 | 334 | 0.2964 | 0 | c.187 others(5): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 2/20 | chr12 | TogoVar | |||||||
ACAD10_chr12_111681053_111762099 | 111749344 | G | T | missense_variant others(1): Show |
MODERATE | HG01943.hp2 HG02257.hp2 HG02717.hp1 others(5): Show |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0318 a0002c0003t0003g0319 a0002c0003t0003g0320 others(5): Show |
8 | 334 | 0.0240 | 0 | c.281 others(4): Show |
p.Arg others(6): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 18/21 | 3016/4006 | 2816/3180 | 939/1059 | chr12 | TogoVar | |||
ACAD10_chr12_111681053_111762099 | 111753922 | G | T | splice_region_variant others(1): Show |
LOW | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 334 | 0.0030 | 0 | c.296 others(6): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 19/20 | chr12 | TogoVar | |||||||
ACAD11_chr3_132553141_132664809 | 132561221 | T | C | splice_region_variant others(1): Show |
LOW | HG03704.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0265 | 1 | 314 | 0.0032 | 0 | c.200 others(6): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 17/19 | chr3 | TogoVar | |||||||
ACAD11_chr3_132553141_132664809 | 132605211 | C | T | splice_region_variant others(1): Show |
LOW | HG02451.hp1 HG02486.hp1 HG02723.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0275 a0001c0001t0001g0276 others(1): Show |
5 | 314 | 0.0159 | 0 | c.141 others(6): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 11/19 | chr3 | TogoVar | |||||||
ACAD8_chr11_134248568_134270855 | 134256654 | C | T | splice_region_variant others(1): Show |
LOW | HG01891.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 2 | 448 | 0.0045 | 0 | c.210 others(5): Show |
ACAD8 | ENSG00000151498.12 | transcript | ENST00000281182.9 | protein_coding | 2/10 | chr11 | TogoVar | |||||||
ACAD8_chr11_134248568_134270855 | 134259753 | G | A | splice_region_variant others(1): Show |
LOW | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 448 | 0.0022 | 0 | c.705 others(5): Show |
ACAD8 | ENSG00000151498.12 | transcript | ENST00000281182.9 | protein_coding | 6/10 | chr11 | TogoVar | |||||||
ACAD8_chr11_134248568_134270855 | 134261186 | T | C | splice_region_variant others(1): Show |
LOW | HG02109.hp2 HG02257.hp2 HG02280.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0054 |
16 | 448 | 0.0357 | 0 | c.841 others(5): Show |
ACAD8 | ENSG00000151498.12 | transcript | ENST00000281182.9 | protein_coding | 7/10 | chr11 | TogoVar | |||||||
ACAD9_chr3_128874620_128918114 | 128908178 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(211): Show |
a0001a0004a0005 | a0001c0002a0001c0003a0001c0004others(6): Show | a0001c0002t0002a0001c0002t0007a0001c0002t0008others(13): Show | a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0005 others(157): Show |
214 | 370 | 0.5784 | 0 | c.127 others(6): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 12/17 | chr3 | TogoVar | |||||||
ACADL_chr2_210182923_210230447 | 210195206 | C | T | splice_region_variant others(1): Show |
LOW | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 272 | 0.0037 | 0 | c.111 others(6): Show |
ACADL | ENSG00000115361.8 | transcript | ENST00000233710.4 | protein_coding | 9/10 | chr2 | TogoVar | |||||||
ACADM_chr1_75719709_75768679 | 75733627 | G | C | missense_variant others(1): Show |
MODERATE | HG00735.hp1 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0343 | 1 | 362 | 0.0028 | 0 | c.386 others(3): Show |
p.Gly others(6): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 5/12 | 465/2261 | 386/1266 | 129/421 | chr1 | TogoVar | |||
ACADSB_chr10_123004006_123063290 | 123034358 | A | C | splice_region_variant others(1): Show |
LOW | HG03017.hp2 | a0001 | a0001c0017 | a0001c0017t0002 | a0001c0017t0002g0012 | 1 | 372 | 0.0027 | 0 | c.45A others(2): Show |
p.Leu others(5): Show |
ACADSB | ENSG00000196177.13 | transcript | ENST00000358776.7 | protein_coding | 2/11 | 69/5848 | 45/1299 | 15/432 | chr10 | TogoVar |