Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
ACACB_chr12_109111587_109273226	109246239	G G	A A	missense_variant missense_variant	MODERATE	HG01081.hp1 HG01081.hp1	a0027 a0027	a0027c0065 a0027c0065	a0027c0065t0005 a0027c0065t0005	a0027c0065t0005g0225 a0027c0065t0005g0225	1	308	0.0033	c.536 others(4): Show c.5362G>A	p.Val others(7): Show p.Val1788Met	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	39/53	5489/9368	5362/7377	1788/2458	chr12	TogoVar
ACACB_chr12_109111587_109273226	109246269	C C	G G	missense_variant missense_variant	MODERATE	HG03225.hp2 HG03225.hp2	a0033 a0033	a0033c0063 a0033c0063	a0033c0063t0010 a0033c0063t0010	a0033c0063t0010g0117 a0033c0063t0010g0117	1	308	0.0033	c.539 others(4): Show c.5392C>G	p.Arg others(7): Show p.Arg1798Gly	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	39/53	5519/9368	5392/7377	1798/2458	chr12	TogoVar
ACACB_chr12_109111587_109273226	109246320	G G	A A	missense_variant missense_variant	MODERATE	HG02145.hp1 HG02145.hp2 HG02486.hp2 others(10): Show HG02145.hp1 HG02145.hp2 HG02486.hp2 HG02559.hp1 HG02622.hp2 HG03225.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp2 HG06807.hp2 NA18522.hp2 homoSapiens_chm13v2.hp1	a0007 a0015 a0021 others(2): Show a0007 a0015 a0021 a0032 a0038	a0007c0030 a0007c0037 a0007c0057 others(7): Show a0007c0030 a0007c0037 a0007c0057 a0007c0101 a0007c0104 a0015c0114 a0015c0119 a0021c0068 a0032c0059 a0038c0082	a0007c0030t0002 a0007c0030t0004 a0007c0037t0004 others(8): Show a0007c0030t0002 a0007c0030t0004 a0007c0037t0004 a0007c0057t0004 a0007c0101t0002 a0007c0104t0004 a0015c0114t0004 a0015c0119t0004 a0021c0068t0001 a0032c0059t0002 a0038c0082t0002	a0007c0030t0002g0110 a0007c0030t0004g0280 a0007c0030t0004g0285 others(10): Show a0007c0030t0002g0110 a0007c0030t0004g0280 a0007c0030t0004g0285 a0007c0037t0004g0073 a0007c0037t0004g0200 a0007c0057t0004g0207 a0007c0101t0002g0086 a0007c0104t0004g0183 a0015c0114t0004g0009 a0015c0119t0004g0169 a0021c0068t0001g0202 a0032c0059t0002g0038 a0038c0082t0002g0127	13	308	0.0422	c.544 others(4): Show c.5443G>A	p.Glu others(7): Show p.Glu1815Lys	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	39/53	5570/9368	5443/7377	1815/2458	chr12	TogoVar
ACACB_chr12_109111587_109273226	109253037	C C	T T	missense_variant missense_variant	MODERATE	NA19003.hp2 NA19003.hp2	a0028 a0028	a0028c0100 a0028c0100	a0028c0100t0001 a0028c0100t0001	a0028c0100t0001g0070 a0028c0100t0001g0070	1	308	0.0033	c.592 others(4): Show c.5924C>T	p.Thr others(7): Show p.Thr1975Ile	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	43/53	6051/9368	5924/7377	1975/2458	chr12	TogoVar
ACACB_chr12_109111587_109273226	109253060	G G	A A	missense_variant missense_variant	MODERATE	HG02056.hp1 HG02056.hp1	a0029 a0029	a0029c0085 a0029c0085	a0029c0085t0003 a0029c0085t0003	a0029c0085t0003g0238 a0029c0085t0003g0238	1	308	0.0033	c.594 others(4): Show c.5947G>A	p.Val others(7): Show p.Val1983Ile	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	43/53	6074/9368	5947/7377	1983/2458	chr12	TogoVar
ACACB_chr12_109111587_109273226	109254248	C C	T T	missense_variant missense_variant	MODERATE	HG01168.hp2 HG01261.hp2 HG01433.hp1 others(15): Show HG01168.hp2 HG01261.hp2 HG01433.hp1 HG02145.hp1 HG02145.hp2 HG02486.hp2 HG02559.hp1 HG02622.hp2 HG03017.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03654.hp2 HG04184.hp2 HG06807.hp2 NA18522.hp2 NA18966.hp2 homoSapiens_chm13v2.hp1	a0007 a0011 a0012 others(3): Show a0007 a0011 a0012 a0014 a0015 a0038	a0007c0030 a0007c0037 a0007c0057 others(9): Show a0007c0030 a0007c0037 a0007c0057 a0007c0101 a0007c0104 a0011c0027 a0012c0035 a0014c0077 a0014c0079 a0015c0114 a0015c0119 a0038c0082	a0007c0030t0002 a0007c0030t0004 a0007c0037t0004 others(11): Show a0007c0030t0002 a0007c0030t0004 a0007c0037t0004 a0007c0057t0004 a0007c0101t0002 a0007c0104t0004 a0011c0027t0004 a0011c0027t0013 a0012c0035t0004 a0014c0077t0004 a0014c0079t0004 a0015c0114t0004 a0015c0119t0004 a0038c0082t0002	a0007c0030t0002g0110 a0007c0030t0004g0280 a0007c0030t0004g0285 others(15): Show a0007c0030t0002g0110 a0007c0030t0004g0280 a0007c0030t0004g0285 a0007c0037t0004g0073 a0007c0037t0004g0200 a0007c0057t0004g0207 a0007c0101t0002g0086 a0007c0104t0004g0183 a0011c0027t0004g0150 a0011c0027t0004g0249 a0011c0027t0013g0065 a0012c0035t0004g0063 a0012c0035t0004g0082 a0014c0077t0004g0118 a0014c0079t0004g0180 a0015c0114t0004g0009 a0015c0119t0004g0169 a0038c0082t0002g0127	18	308	0.0584	c.608 others(4): Show c.6080C>T	p.Thr others(7): Show p.Thr2027Ile	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	44/53	6207/9368	6080/7377	2027/2458	chr12	TogoVar
ACACB_chr12_109111587_109273226	109254256	A A	G G	missense_variant missense_variant	MODERATE	HG02922.hp2 HG02922.hp2	a0036 a0036	a0036c0094 a0036c0094	a0036c0094t0004 a0036c0094t0004	a0036c0094t0004g0072 a0036c0094t0004g0072	1	308	0.0033	c.608 others(4): Show c.6088A>G	p.Ile others(7): Show p.Ile2030Val	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	44/53	6215/9368	6088/7377	2030/2458	chr12	TogoVar
ACACB_chr12_109111587_109273226	109259033	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(218): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19084.hp1 NA19085.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(25): Show a0001 a0003 a0004 a0006 a0007 a0009 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0019 a0020 a0021 a0022 a0023 a0024 a0026 a0028 a0030 a0032 a0034 a0036 a0037 a0038 a0040	a0001c0002 a0001c0003 a0001c0004 others(84): Show a0001c0002 a0001c0003 a0001c0004 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0016 a0001c0018 a0001c0022 a0001c0023 a0001c0029 a0001c0032 a0001c0034 a0001c0038 a0001c0039 a0001c0045 a0001c0046 a0001c0048 a0001c0049 a0001c0050 a0001c0054 a0001c0055 a0001c0058 a0001c0060 a0001c0062 a0001c0064 a0001c0069 a0001c0074 a0001c0087 a0001c0089 a0001c0095 a0001c0098 a0001c0105 a0001c0106 a0001c0107 a0001c0108 a0001c0109 a0001c0111 a0001c0124 a0003c0001 a0003c0005 a0003c0081 a0003c0083 a0004c0008 a0004c0040 a0004c0041 a0004c0112 a0006c0026 a0006c0031 a0006c0078 a0006c0113 a0006c0120 a0006c0121 a0006c0122 a0007c0030 a0007c0037 a0007c0057 a0007c0101 a0007c0104 a0009c0025 a0009c0096 a0009c0103 a0011c0027 a0012c0035 a0013c0033 a0014c0077 a0014c0079 a0015c0114 a0015c0119 a0016c0047 a0017c0123 a0019c0093 a0020c0052 a0021c0068 a0022c0084 a0023c0099 a0024c0091 a0026c0066 a0028c0100 a0030c0071 a0032c0059 a0034c0102 a0036c0094 a0037c0072 a0038c0082 a0040c0115	a0001c0002t0001 a0001c0002t0008 a0001c0002t0021 others(106): Show a0001c0002t0001 a0001c0002t0008 a0001c0002t0021 a0001c0003t0002 a0001c0003t0004 a0001c0004t0002 a0001c0004t0007 a0001c0004t0017 a0001c0004t0020 a0001c0010t0001 a0001c0010t0002 a0001c0010t0009 a0001c0011t0001 a0001c0011t0008 a0001c0012t0002 a0001c0013t0001 a0001c0016t0009 a0001c0016t0011 a0001c0018t0002 a0001c0018t0011 a0001c0022t0004 a0001c0023t0001 a0001c0023t0004 a0001c0029t0002 a0001c0029t0011 a0001c0032t0004 a0001c0034t0001 a0001c0038t0001 a0001c0039t0004 a0001c0045t0002 a0001c0046t0002 a0001c0048t0002 a0001c0048t0004 a0001c0049t0001 a0001c0049t0004 a0001c0050t0001 a0001c0054t0001 a0001c0055t0001 a0001c0058t0016 a0001c0060t0002 a0001c0062t0019 a0001c0064t0009 a0001c0069t0002 a0001c0074t0004 a0001c0087t0001 a0001c0089t0002 a0001c0095t0001 a0001c0098t0001 a0001c0105t0004 a0001c0106t0001 a0001c0107t0012 a0001c0108t0001 a0001c0109t0002 a0001c0111t0001 a0001c0124t0012 a0003c0001t0001 a0003c0001t0004 a0003c0001t0008 a0003c0005t0002 a0003c0081t0002 a0003c0083t0001 a0004c0008t0001 a0004c0008t0008 a0004c0040t0002 a0004c0041t0002 a0004c0112t0001 a0006c0026t0002 a0006c0026t0016 a0006c0031t0004 a0006c0031t0013 a0006c0078t0001 a0006c0113t0004 a0006c0120t0003 a0006c0121t0004 a0006c0122t0004 a0007c0030t0002 a0007c0030t0004 a0007c0037t0004 a0007c0057t0004 a0007c0101t0002 a0007c0104t0004 a0009c0025t0001 a0009c0096t0009 a0009c0103t0004 a0011c0027t0004 a0011c0027t0013 a0012c0035t0004 a0013c0033t0002 a0014c0077t0004 a0014c0079t0004 a0015c0114t0004 a0015c0119t0004 a0016c0047t0002 a0017c0123t0015 a0019c0093t0001 a0020c0052t0001 a0021c0068t0001 a0022c0084t0004 a0023c0099t0001 a0024c0091t0002 a0026c0066t0015 a0028c0100t0001 a0030c0071t0002 a0032c0059t0002 a0034c0102t0018 a0036c0094t0004 a0037c0072t0001 a0038c0082t0002 a0040c0115t0001	a0001c0002t0001g0035 a0001c0002t0001g0075 a0001c0002t0001g0079 others(217): Show a0001c0002t0001g0035 a0001c0002t0001g0075 a0001c0002t0001g0079 a0001c0002t0001g0081 a0001c0002t0001g0085 a0001c0002t0001g0091 a0001c0002t0001g0098 a0001c0002t0001g0109 a0001c0002t0001g0114 a0001c0002t0001g0126 a0001c0002t0001g0191 a0001c0002t0001g0235 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0008g0306 a0001c0002t0021g0243 a0001c0003t0002g0068 a0001c0003t0002g0077 a0001c0003t0002g0078 a0001c0003t0002g0094 a0001c0003t0002g0097 a0001c0003t0002g0099 a0001c0003t0002g0101 a0001c0003t0002g0102 a0001c0003t0002g0103 a0001c0003t0002g0104 a0001c0003t0002g0112 a0001c0003t0002g0193 a0001c0003t0002g0244 a0001c0003t0004g0074 a0001c0003t0004g0300 a0001c0004t0002g0050 a0001c0004t0002g0052 a0001c0004t0002g0054 a0001c0004t0007g0001 a0001c0004t0007g0011 a0001c0004t0007g0019 a0001c0004t0007g0020 a0001c0004t0007g0022 a0001c0004t0007g0028 a0001c0004t0017g0003 a0001c0004t0020g0023 a0001c0010t0001g0188 a0001c0010t0002g0016 a0001c0010t0002g0021 a0001c0010t0002g0261 a0001c0010t0009g0186 a0001c0011t0001g0008 a0001c0011t0001g0013 a0001c0011t0001g0056 a0001c0011t0001g0157 a0001c0011t0008g0018 a0001c0012t0002g0045 a0001c0012t0002g0250 a0001c0012t0002g0251 a0001c0012t0002g0259 a0001c0012t0002g0262 a0001c0013t0001g0153 a0001c0013t0001g0163 a0001c0013t0001g0237 a0001c0013t0001g0248 a0001c0013t0001g0256 a0001c0016t0009g0287 a0001c0016t0009g0290 a0001c0016t0009g0305 a0001c0016t0011g0274 a0001c0018t0002g0048 a0001c0018t0002g0049 a0001c0018t0011g0046 a0001c0018t0011g0047 a0001c0022t0004g0004 a0001c0022t0004g0005 a0001c0022t0004g0006 a0001c0022t0004g0007 a0001c0023t0001g0089 a0001c0023t0001g0100 a0001c0023t0001g0122 a0001c0023t0004g0121 a0001c0029t0002g0096 a0001c0029t0002g0108 a0001c0029t0011g0090 a0001c0032t0004g0291 a0001c0032t0004g0292 a0001c0034t0001g0211 a0001c0034t0001g0212 a0001c0038t0001g0029 a0001c0038t0001g0201 a0001c0039t0004g0039 a0001c0039t0004g0116 a0001c0045t0002g0146 a0001c0045t0002g0234 a0001c0046t0002g0067 a0001c0046t0002g0190 a0001c0048t0002g0281 a0001c0048t0004g0307 a0001c0049t0001g0289 a0001c0049t0004g0088 a0001c0050t0001g0277 a0001c0050t0001g0278 a0001c0054t0001g0203 a0001c0055t0001g0226 a0001c0058t0016g0187 a0001c0060t0002g0272 a0001c0062t0019g0288 a0001c0064t0009g0184 a0001c0069t0002g0204 a0001c0074t0004g0229 a0001c0087t0001g0236 a0001c0089t0002g0162 a0001c0095t0001g0133 a0001c0098t0001g0286 a0001c0105t0004g0296 a0001c0106t0001g0293 a0001c0107t0012g0196 a0001c0108t0001g0010 a0001c0109t0002g0276 a0001c0111t0001g0275 a0001c0124t0012g0197 a0003c0001t0001g0064 a0003c0001t0001g0087 a0003c0001t0001g0132 a0003c0001t0001g0136 a0003c0001t0001g0137 a0003c0001t0001g0138 a0003c0001t0001g0140 a0003c0001t0001g0141 a0003c0001t0001g0142 a0003c0001t0001g0143 a0003c0001t0001g0145 a0003c0001t0001g0147 a0003c0001t0001g0149 a0003c0001t0001g0154 a0003c0001t0001g0158 a0003c0001t0001g0178 a0003c0001t0001g0265 a0003c0001t0001g0297 a0003c0001t0001g0298 a0003c0001t0004g0139 a0003c0001t0004g0266 a0003c0001t0008g0128 a0003c0005t0002g0059 a0003c0005t0002g0060 a0003c0005t0002g0129 a0003c0005t0002g0131 a0003c0005t0002g0134 a0003c0005t0002g0240 a0003c0005t0002g0245 a0003c0005t0002g0246 a0003c0005t0002g0264 a0003c0005t0002g0299 a0003c0081t0002g0230 a0003c0083t0001g0151 a0004c0008t0001g0198 a0004c0008t0001g0218 a0004c0008t0001g0221 a0004c0008t0001g0227 a0004c0008t0008g0216 a0004c0008t0008g0219 a0004c0008t0008g0263 a0004c0040t0002g0213 a0004c0040t0002g0215 a0004c0041t0002g0222 a0004c0041t0002g0224 a0004c0112t0001g0119 a0006c0026t0002g0155 a0006c0026t0002g0156 a0006c0026t0016g0066 a0006c0031t0004g0002 a0006c0031t0004g0206 a0006c0031t0013g0205 a0006c0078t0001g0181 a0006c0113t0004g0031 a0006c0120t0003g0043 a0006c0121t0004g0170 a0006c0122t0004g0167 a0007c0030t0002g0110 a0007c0030t0004g0280 a0007c0030t0004g0285 a0007c0037t0004g0073 a0007c0037t0004g0200 a0007c0057t0004g0207 a0007c0101t0002g0086 a0007c0104t0004g0183 a0009c0025t0001g0105 a0009c0025t0001g0269 a0009c0025t0001g0270 a0009c0025t0001g0301 a0009c0096t0009g0295 a0009c0103t0004g0165 a0011c0027t0004g0150 a0011c0027t0004g0249 a0011c0027t0013g0065 a0012c0035t0004g0063 a0012c0035t0004g0082 a0013c0033t0002g0185 a0013c0033t0002g0189 a0014c0077t0004g0118 a0014c0079t0004g0180 a0015c0114t0004g0009 a0015c0119t0004g0169 a0016c0047t0002g0175 a0016c0047t0002g0176 a0017c0123t0015g0058 a0019c0093t0001g0159 a0020c0052t0001g0210 a0021c0068t0001g0202 a0022c0084t0004g0254 a0023c0099t0001g0084 a0024c0091t0002g0174 a0026c0066t0015g0115 a0028c0100t0001g0070 a0030c0071t0002g0040 a0032c0059t0002g0038 a0034c0102t0018g0195 a0036c0094t0004g0072 a0037c0072t0001g0217 a0038c0082t0002g0127 a0040c0115t0001g0258	221	308	0.7175	c.642 others(4): Show c.6421G>A	p.Val others(7): Show p.Val2141Ile	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	47/53	6548/9368	6421/7377	2141/2458	chr12	TogoVar
ACACB_chr12_109111587_109273226	109262460	G G	A A	missense_variant missense_variant	MODERATE	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0013 a0013	a0013c0033 a0013c0033	a0013c0033t0002 a0013c0033t0002	a0013c0033t0002g0185 a0013c0033t0002g0189 a0013c0033t0002g0185 a0013c0033t0002g0189	2	308	0.0065	c.677 others(4): Show c.6778G>A	p.Glu others(7): Show p.Glu2260Lys	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	49/53	6905/9368	6778/7377	2260/2458	chr12	TogoVar
ACACB_chr12_109111587_109273226	109264361	G G	A A	missense_variant missense_variant	MODERATE	HG02615.hp1 HG02615.hp1	a0030 a0030	a0030c0071 a0030c0071	a0030c0071t0002 a0030c0071t0002	a0030c0071t0002g0040 a0030c0071t0002g0040	1	308	0.0033	c.691 others(4): Show c.6917G>A	p.Arg others(7): Show p.Arg2306Gln	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	50/53	7044/9368	6917/7377	2306/2458	chr12	TogoVar
ACACB_chr12_109111587_109273226	109265135	G G	A A	missense_variant missense_variant	MODERATE	HG01891.hp2 HG01891.hp2	a0034 a0034	a0034c0102 a0034c0102	a0034c0102t0018 a0034c0102t0018	a0034c0102t0018g0195 a0034c0102t0018g0195	1	308	0.0033	c.696 others(4): Show c.6968G>A	p.Arg others(7): Show p.Arg2323His	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	51/53	7095/9368	6968/7377	2323/2458	chr12	TogoVar
ACACB_chr12_109111587_109273226	109265153	G G	A A	missense_variant missense_variant	MODERATE	HG02015.hp2 HG02015.hp2	a0031 a0031	a0031c0067 a0031c0067	a0031c0067t0003 a0031c0067t0003	a0031c0067t0003g0027 a0031c0067t0003g0027	1	308	0.0033	c.698 others(4): Show c.6986G>A	p.Arg others(7): Show p.Arg2329His	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	51/53	7113/9368	6986/7377	2329/2458	chr12	TogoVar
ACAD10_chr12_111681053_111762099	111692854	A A	G G	missense_variant missense_variant	MODERATE	HG02897.hp2 HG02897.hp2	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0001 a0012c0015t0001	a0012c0015t0001g0317 a0012c0015t0001g0317	1	336	0.0030	c.145 others(3): Show c.145A>G	p.Met others(5): Show p.Met49Val	ACAD10	ENSG00000111271.15	transcript	ENST00000313698.9	protein_coding	2/21	345/4006	145/3180	49/1059	chr12	TogoVar
ACAD10_chr12_111681053_111762099	111709593	A A	G G	missense_variant missense_variant	MODERATE	HG01943.hp2 HG02257.hp2 HG02717.hp1 others(5): Show HG01943.hp2 HG02257.hp2 HG02717.hp1 HG02809.hp2 HG02965.hp2 HG03130.hp2 NA19030.hp2 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0318 a0002c0003t0003g0319 a0002c0003t0003g0320 others(5): Show a0002c0003t0003g0318 a0002c0003t0003g0319 a0002c0003t0003g0320 a0002c0003t0003g0321 a0002c0003t0003g0322 a0002c0003t0003g0323 a0002c0003t0003g0324 a0002c0003t0003g0325	8	336	0.0238	c.599 others(3): Show c.599A>G	p.Gln others(6): Show p.Gln200Arg	ACAD10	ENSG00000111271.15	transcript	ENST00000313698.9	protein_coding	5/21	799/4006	599/3180	200/1059	chr12	TogoVar
ACAD10_chr12_111681053_111762099	111709640	A A	C C	missense_variant missense_variant	MODERATE	HG01943.hp2 HG02257.hp2 HG02717.hp1 others(5): Show HG01943.hp2 HG02257.hp2 HG02717.hp1 HG02809.hp2 HG02965.hp2 HG03130.hp2 NA19030.hp2 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0318 a0002c0003t0003g0319 a0002c0003t0003g0320 others(5): Show a0002c0003t0003g0318 a0002c0003t0003g0319 a0002c0003t0003g0320 a0002c0003t0003g0321 a0002c0003t0003g0322 a0002c0003t0003g0323 a0002c0003t0003g0324 a0002c0003t0003g0325	8	336	0.0238	c.646 others(3): Show c.646A>C	p.Thr others(6): Show p.Thr216Pro	ACAD10	ENSG00000111271.15	transcript	ENST00000313698.9	protein_coding	5/21	846/4006	646/3180	216/1059	chr12	TogoVar
ACAD10_chr12_111681053_111762099	111712604	C C	T T	missense_variant missense_variant	MODERATE	HG03834.hp1 HG03834.hp1	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0226 a0006c0014t0001g0226	1	336	0.0030	c.797 others(3): Show c.797C>T	p.Pro others(6): Show p.Pro266Leu	ACAD10	ENSG00000111271.15	transcript	ENST00000313698.9	protein_coding	6/21	997/4006	797/3180	266/1059	chr12	TogoVar
ACAD10_chr12_111681053_111762099	111729905	C C	A A	missense_variant missense_variant	MODERATE	HG03017.hp1 HG03239.hp2 HG04204.hp1 HG03017.hp1 HG03239.hp2 HG04204.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0098 a0004c0005t0002g0108 a0004c0005t0002g0109 a0004c0005t0002g0098 a0004c0005t0002g0108 a0004c0005t0002g0109	3	336	0.0089	c.134 others(4): Show c.1343C>A	p.Pro others(6): Show p.Pro448His	ACAD10	ENSG00000111271.15	transcript	ENST00000313698.9	protein_coding	10/21	1543/4006	1343/3180	448/1059	chr12	TogoVar
ACAD10_chr12_111681053_111762099	111736969	C C	G G	missense_variant missense_variant	MODERATE	HG01943.hp2 HG02257.hp2 HG02717.hp1 others(5): Show HG01943.hp2 HG02257.hp2 HG02717.hp1 HG02809.hp2 HG02965.hp2 HG03130.hp2 NA19030.hp2 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0318 a0002c0003t0003g0319 a0002c0003t0003g0320 others(5): Show a0002c0003t0003g0318 a0002c0003t0003g0319 a0002c0003t0003g0320 a0002c0003t0003g0321 a0002c0003t0003g0322 a0002c0003t0003g0323 a0002c0003t0003g0324 a0002c0003t0003g0325	8	336	0.0238	c.167 others(4): Show c.1679C>G	p.Ala others(6): Show p.Ala560Gly	ACAD10	ENSG00000111271.15	transcript	ENST00000313698.9	protein_coding	12/21	1879/4006	1679/3180	560/1059	chr12	TogoVar
ACAD10_chr12_111681053_111762099	111744850	A A	G G	missense_variant missense_variant	MODERATE	HG04228.hp2 HG04228.hp2	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0001 a0011c0012t0001	a0011c0012t0001g0305 a0011c0012t0001g0305	1	336	0.0030	c.192 others(4): Show c.1922A>G	p.Glu others(6): Show p.Glu641Gly	ACAD10	ENSG00000111271.15	transcript	ENST00000313698.9	protein_coding	13/21	2122/4006	1922/3180	641/1059	chr12	TogoVar
ACAD10_chr12_111681053_111762099	111746229	A A	G G	missense_variant missense_variant	MODERATE	NA18981.hp2 NA18981.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0002 a0010c0011t0002	a0010c0011t0002g0028 a0010c0011t0002g0028	1	336	0.0030	c.220 others(4): Show c.2201A>G	p.Asn others(6): Show p.Asn734Ser	ACAD10	ENSG00000111271.15	transcript	ENST00000313698.9	protein_coding	14/21	2401/4006	2201/3180	734/1059	chr12	TogoVar
ACAD10_chr12_111681053_111762099	111747061	T T	C C	missense_variant missense_variant	MODERATE	HG03540.hp2 HG03540.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0014 a0007c0007t0001g0014	1	336	0.0030	c.226 others(4): Show c.2269T>C	p.Ser others(6): Show p.Ser757Pro	ACAD10	ENSG00000111271.15	transcript	ENST00000313698.9	protein_coding	15/21	2469/4006	2269/3180	757/1059	chr12	TogoVar
ACAD10_chr12_111681053_111762099	111748470	C C	T T	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00738.hp1 HG01106.hp1 others(3): Show HG00140.hp1 HG00738.hp1 HG01106.hp1 HG03017.hp2 NA20752.hp2 NA20905.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0208 a0003c0004t0001g0237 a0003c0004t0001g0269 others(3): Show a0003c0004t0001g0208 a0003c0004t0001g0237 a0003c0004t0001g0269 a0003c0004t0001g0271 a0003c0004t0001g0272 a0003c0004t0001g0282	6	336	0.0179	c.263 others(4): Show c.2639C>T	p.Ala others(6): Show p.Ala880Val	ACAD10	ENSG00000111271.15	transcript	ENST00000313698.9	protein_coding	17/21	2839/4006	2639/3180	880/1059	chr12	TogoVar
ACAD10_chr12_111681053_111762099	111749178	C C	T T	missense_variant missense_variant	MODERATE	NA20129.hp1 NA20129.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0003 a0009c0010t0001g0003	1	336	0.0030	c.265 others(4): Show c.2650C>T	p.His others(6): Show p.His884Tyr	ACAD10	ENSG00000111271.15	transcript	ENST00000313698.9	protein_coding	18/21	2850/4006	2650/3180	884/1059	chr12	TogoVar
ACAD10_chr12_111681053_111762099	111749336	G G	A A	missense_variant missense_variant	MODERATE	HG03540.hp2 HG03540.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0014 a0007c0007t0001g0014	1	336	0.0030	c.280 others(4): Show c.2808G>A	p.Met others(6): Show p.Met936Ile	ACAD10	ENSG00000111271.15	transcript	ENST00000313698.9	protein_coding	18/21	3008/4006	2808/3180	936/1059	chr12	TogoVar
ACAD10_chr12_111681053_111762099	111749344	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01943.hp2 HG02257.hp2 HG02717.hp1 others(5): Show HG01943.hp2 HG02257.hp2 HG02717.hp1 HG02809.hp2 HG02965.hp2 HG03130.hp2 NA19030.hp2 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0318 a0002c0003t0003g0319 a0002c0003t0003g0320 others(5): Show a0002c0003t0003g0318 a0002c0003t0003g0319 a0002c0003t0003g0320 a0002c0003t0003g0321 a0002c0003t0003g0322 a0002c0003t0003g0323 a0002c0003t0003g0324 a0002c0003t0003g0325	8	336	0.0238	c.281 others(4): Show c.2816G>T	p.Arg others(6): Show p.Arg939Leu	ACAD10	ENSG00000111271.15	transcript	ENST00000313698.9	protein_coding	18/21	3016/4006	2816/3180	939/1059	chr12	TogoVar
ACAD10_chr12_111681053_111762099	111753865	C C	T T	missense_variant missense_variant	MODERATE	HG01943.hp2 HG02257.hp2 HG02717.hp1 others(5): Show HG01943.hp2 HG02257.hp2 HG02717.hp1 HG02809.hp2 HG02965.hp2 HG03130.hp2 NA19030.hp2 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0318 a0002c0003t0003g0319 a0002c0003t0003g0320 others(5): Show a0002c0003t0003g0318 a0002c0003t0003g0319 a0002c0003t0003g0320 a0002c0003t0003g0321 a0002c0003t0003g0322 a0002c0003t0003g0323 a0002c0003t0003g0324 a0002c0003t0003g0325	8	336	0.0238	c.291 others(4): Show c.2911C>T	p.Arg others(6): Show p.Arg971Trp	ACAD10	ENSG00000111271.15	transcript	ENST00000313698.9	protein_coding	19/21	3111/4006	2911/3180	971/1059	chr12	TogoVar
ACAD10_chr12_111681053_111762099	111756433	G G	A A	missense_variant missense_variant	MODERATE	HG01943.hp2 HG02257.hp2 HG02717.hp1 others(5): Show HG01943.hp2 HG02257.hp2 HG02717.hp1 HG02809.hp2 HG02965.hp2 HG03130.hp2 NA19030.hp2 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0318 a0002c0003t0003g0319 a0002c0003t0003g0320 others(5): Show a0002c0003t0003g0318 a0002c0003t0003g0319 a0002c0003t0003g0320 a0002c0003t0003g0321 a0002c0003t0003g0322 a0002c0003t0003g0323 a0002c0003t0003g0324 a0002c0003t0003g0325	8	336	0.0238	c.314 others(4): Show c.3140G>A	p.Arg others(7): Show p.Arg1047Gln	ACAD10	ENSG00000111271.15	transcript	ENST00000313698.9	protein_coding	21/21	3340/4006	3140/3180	1047/1059	chr12	TogoVar
ACAD11_chr3_132553141_132664809	132559063	G G	A A	missense_variant missense_variant	MODERATE	HG01074.hp1 HG01074.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0100 a0008c0011t0001g0100	1	316	0.0032	c.225 others(4): Show c.2251C>T	p.Arg others(6): Show p.Arg751Cys	ACAD11	ENSG00000240303.8	transcript	ENST00000264990.11	protein_coding	20/20	2309/3231	2251/2343	751/780	chr3	TogoVar
ACAD11_chr3_132553141_132664809	132561129	G G	T T	missense_variant missense_variant	MODERATE	NA18942.hp1 NA18942.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0155 a0009c0013t0001g0155	1	316	0.0032	c.209 others(4): Show c.2090C>A	p.Thr others(6): Show p.Thr697Asn	ACAD11	ENSG00000240303.8	transcript	ENST00000264990.11	protein_coding	18/20	2148/3231	2090/2343	697/780	chr3	TogoVar
ACAD11_chr3_132553141_132664809	132603269	T T	A A	missense_variant missense_variant	MODERATE	HG02630.hp1 HG02630.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0122 a0007c0012t0001g0122	1	316	0.0032	c.158 others(4): Show c.1581A>T	p.Glu others(6): Show p.Glu527Asp	ACAD11	ENSG00000240303.8	transcript	ENST00000264990.11	protein_coding	13/20	1639/3231	1581/2343	527/780	chr3	TogoVar
ACAD11_chr3_132553141_132664809	132605156	C C	A A	missense_variant missense_variant	MODERATE	NA19030.hp2 NA19030.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0274 a0006c0014t0001g0274	1	316	0.0032	c.146 others(4): Show c.1464G>T	p.Lys others(6): Show p.Lys488Asn	ACAD11	ENSG00000240303.8	transcript	ENST00000264990.11	protein_coding	12/20	1522/3231	1464/2343	488/780	chr3	TogoVar
ACAD11_chr3_132553141_132664809	132619490	G G	C C	missense_variant missense_variant	MODERATE	HG03490.hp1 HG03492.hp1 NA21309.hp2 HG03490.hp1 HG03492.hp1 NA21309.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0146 a0004c0007t0001g0150 a0004c0007t0001g0154 a0004c0007t0001g0146 a0004c0007t0001g0150 a0004c0007t0001g0154	3	316	0.0095	c.125 others(4): Show c.1253C>G	p.Pro others(6): Show p.Pro418Arg	ACAD11	ENSG00000240303.8	transcript	ENST00000264990.11	protein_coding	10/20	1311/3231	1253/2343	418/780	chr3	TogoVar
ACAD11_chr3_132553141_132664809	132619502	T T	G G	missense_variant missense_variant	MODERATE	HG00323.hp2 HG00621.hp2 HG00738.hp2 others(36): Show HG00323.hp2 HG00621.hp2 HG00738.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01175.hp2 HG01433.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02132.hp1 HG02135.hp2 HG02738.hp1 HG03490.hp1 HG03492.hp1 HG03704.hp2 HG03927.hp2 NA18941.hp2 NA18942.hp1 NA18948.hp1 NA18955.hp1 NA18962.hp2 NA18967.hp2 NA18987.hp1 NA18992.hp2 NA18998.hp1 NA19000.hp2 NA19012.hp1 NA19063.hp1 NA19064.hp1 NA19067.hp1 NA19074.hp1 NA19082.hp1 NA19090.hp2 NA21309.hp2	a0002 a0004 a0005 others(1): Show a0002 a0004 a0005 a0009	a0002c0002 a0002c0005 a0004c0007 others(2): Show a0002c0002 a0002c0005 a0004c0007 a0005c0015 a0009c0013	a0002c0002t0001 a0002c0005t0001 a0004c0007t0001 others(2): Show a0002c0002t0001 a0002c0005t0001 a0004c0007t0001 a0005c0015t0001 a0009c0013t0001	a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0012 others(32): Show a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0012 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0147 a0002c0002t0001g0149 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0172 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0005t0001g0142 a0002c0005t0001g0143 a0002c0005t0001g0153 a0002c0005t0001g0265 a0004c0007t0001g0146 a0004c0007t0001g0150 a0004c0007t0001g0154 a0005c0015t0001g0148 a0009c0013t0001g0155	39	316	0.1234	c.124 others(4): Show c.1241A>C	p.Lys others(6): Show p.Lys414Thr	ACAD11	ENSG00000240303.8	transcript	ENST00000264990.11	protein_coding	10/20	1299/3231	1241/2343	414/780	chr3	TogoVar
ACAD11_chr3_132553141_132664809	132626747	C C	T T	missense_variant missense_variant	MODERATE	HG01074.hp2 HG01074.hp2	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0001 a0010c0016t0001	a0010c0016t0001g0104 a0010c0016t0001g0104	1	316	0.0032	c.114 others(4): Show c.1141G>A	p.Glu others(6): Show p.Glu381Lys	ACAD11	ENSG00000240303.8	transcript	ENST00000264990.11	protein_coding	9/20	1199/3231	1141/2343	381/780	chr3	TogoVar
ACAD11_chr3_132553141_132664809	132626804	C C	A A	missense_variant missense_variant	MODERATE	HG01109.hp1 HG01123.hp1 HG02055.hp1 others(22): Show HG01109.hp1 HG01123.hp1 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp1 NA19030.hp2 NA19043.hp2	a0003 a0006 a0003 a0006	a0003c0003 a0006c0014 a0003c0003 a0006c0014	a0003c0003t0001 a0006c0014t0001 a0003c0003t0001 a0006c0014t0001	a0003c0003t0001g0011 a0003c0003t0001g0017 a0003c0003t0001g0018 others(21): Show a0003c0003t0001g0011 a0003c0003t0001g0017 a0003c0003t0001g0018 a0003c0003t0001g0019 a0003c0003t0001g0020 a0003c0003t0001g0176 a0003c0003t0001g0186 a0003c0003t0001g0188 a0003c0003t0001g0255 a0003c0003t0001g0256 a0003c0003t0001g0257 a0003c0003t0001g0258 a0003c0003t0001g0259 a0003c0003t0001g0260 a0003c0003t0001g0261 a0003c0003t0001g0262 a0003c0003t0001g0269 a0003c0003t0001g0270 a0003c0003t0001g0271 a0003c0003t0001g0272 a0003c0003t0001g0273 a0003c0003t0001g0275 a0003c0003t0001g0280 a0006c0014t0001g0274	25	316	0.0791	c.108 others(4): Show c.1084G>T	p.Val others(6): Show p.Val362Leu	ACAD11	ENSG00000240303.8	transcript	ENST00000264990.11	protein_coding	9/20	1142/3231	1084/2343	362/780	chr3	TogoVar
ACAD11_chr3_132553141_132664809	132630469	G G	A A	missense_variant missense_variant	MODERATE	HG00738.hp2 HG00738.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0148 a0005c0015t0001g0148	1	316	0.0032	c.931 others(3): Show c.931C>T	p.Leu others(6): Show p.Leu311Phe	ACAD11	ENSG00000240303.8	transcript	ENST00000264990.11	protein_coding	7/20	989/3231	931/2343	311/780	chr3	TogoVar
ACAD8_chr11_134248568_134270855	134253620	G G	C C	missense_variant missense_variant	MODERATE	HG02055.hp1 HG02145.hp2 HG02257.hp1 others(3): Show HG02055.hp1 HG02145.hp2 HG02257.hp1 HG02572.hp2 HG03486.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0015 a0002c0002t0001g0054 a0002c0002t0001g0015 a0002c0002t0001g0054	6	448	0.0134	c.20G others(2): Show c.20G>C	p.Arg others(4): Show p.Arg7Pro	ACAD8	ENSG00000151498.12	transcript	ENST00000281182.9	protein_coding	1/11	53/2176	20/1248	7/415	chr11	TogoVar
ACAD8_chr11_134248568_134270855	134258518	G G	A A	missense_variant missense_variant	MODERATE	HG02280.hp2 HG02280.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0010 a0005c0005t0001g0010	1	448	0.0022	c.384 others(3): Show c.384G>A	p.Met others(6): Show p.Met128Ile	ACAD8	ENSG00000151498.12	transcript	ENST00000281182.9	protein_coding	4/11	417/2176	384/1248	128/415	chr11	TogoVar
ACAD8_chr11_134248568_134270855	134262589	G G	A A	missense_variant missense_variant	MODERATE	HG01109.hp2 HG02922.hp1 HG01109.hp2 HG02922.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0017 a0003c0003t0001g0017	2	448	0.0045	c.116 others(4): Show c.1162G>A	p.Val others(6): Show p.Val388Met	ACAD8	ENSG00000151498.12	transcript	ENST00000281182.9	protein_coding	10/11	1195/2176	1162/1248	388/415	chr11	TogoVar
ACAD9_chr3_128874620_128918114	128897655	G G	A A	missense_variant missense_variant	MODERATE	HG02922.hp2 HG02922.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0004 a0004c0011t0004	a0004c0011t0004g0024 a0004c0011t0004g0024	1	372	0.0027	c.578 others(3): Show c.578G>A	p.Arg others(6): Show p.Arg193Gln	ACAD9	ENSG00000177646.20	transcript	ENST00000308982.12	protein_coding	6/18	650/2445	578/1866	193/621	chr3	TogoVar
ACAD9_chr3_128874620_128918114	128904079	G G	A A	missense_variant missense_variant	MODERATE	HG01433.hp1 HG03017.hp2 HG01433.hp1 HG03017.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0230 a0003c0006t0001g0235 a0003c0006t0001g0230 a0003c0006t0001g0235	2	372	0.0054	c.976 others(3): Show c.976G>A	p.Ala others(6): Show p.Ala326Thr	ACAD9	ENSG00000177646.20	transcript	ENST00000308982.12	protein_coding	10/18	1048/2445	976/1866	326/621	chr3	TogoVar
ACAD9_chr3_128874620_128918114	128904091	A A	C C	missense_variant missense_variant	MODERATE	NA18943.hp1 NA18955.hp1 NA19057.hp2 NA18943.hp1 NA18955.hp1 NA19057.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0001 a0002c0005t0001g0221 a0002c0005t0001g0233 a0002c0005t0001g0001 a0002c0005t0001g0221 a0002c0005t0001g0233	3	372	0.0081	c.988 others(3): Show c.988A>C	p.Lys others(6): Show p.Lys330Gln	ACAD9	ENSG00000177646.20	transcript	ENST00000308982.12	protein_coding	10/18	1060/2445	988/1866	330/621	chr3	TogoVar
ACAD9_chr3_128874620_128918114	128906146	A A	T T	missense_variant missense_variant	MODERATE	NA19010.hp1 NA19010.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0204 a0005c0010t0001g0204	1	372	0.0027	c.117 others(4): Show c.1175A>T	p.Gln others(6): Show p.Gln392Leu	ACAD9	ENSG00000177646.20	transcript	ENST00000308982.12	protein_coding	12/18	1247/2445	1175/1866	392/621	chr3	TogoVar
ACAD9_chr3_128874620_128918114	128908237	C C	T T	missense_variant missense_variant	MODERATE	HG02683.hp1 HG02683.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0004 a0008c0013t0004	a0008c0013t0004g0260 a0008c0013t0004g0260	1	372	0.0027	c.133 others(4): Show c.1331C>T	p.Ala others(6): Show p.Ala444Val	ACAD9	ENSG00000177646.20	transcript	ENST00000308982.12	protein_coding	13/18	1403/2445	1331/1866	444/621	chr3	TogoVar
ACAD9_chr3_128874620_128918114	128909044	G G	A A	missense_variant missense_variant	MODERATE	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0018 a0006c0008t0001g0018	1	372	0.0027	c.143 others(4): Show c.1430G>A	p.Arg others(6): Show p.Arg477Gln	ACAD9	ENSG00000177646.20	transcript	ENST00000308982.12	protein_coding	14/18	1502/2445	1430/1866	477/621	chr3	TogoVar
ACAD9_chr3_128874620_128918114	128910132	C C	A A	missense_variant missense_variant	MODERATE	NA18973.hp1 NA18973.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0011 a0007c0009t0001g0011	1	372	0.0027	c.167 others(4): Show c.1675C>A	p.Arg others(6): Show p.Arg559Ser	ACAD9	ENSG00000177646.20	transcript	ENST00000308982.12	protein_coding	16/18	1747/2445	1675/1866	559/621	chr3	TogoVar
ACADL_chr2_210182923_210230447	210195326	T T	G G	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(56): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00609.hp2 HG00639.hp2 HG00741.hp2 HG01099.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01975.hp2 HG02015.hp2 HG02027.hp2 HG02056.hp2 HG02071.hp2 HG02129.hp2 HG02132.hp1 HG02559.hp2 HG02735.hp2 HG02738.hp2 HG02895.hp2 HG02896.hp1 HG02970.hp1 HG02976.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04204.hp2 NA18943.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp1 NA18954.hp1 NA18956.hp1 NA18962.hp1 NA18964.hp1 NA18967.hp1 NA18972.hp1 NA18989.hp2 NA18993.hp1 NA19002.hp1 NA19009.hp2 NA19067.hp2 NA19077.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0006 a0002c0002 a0004c0006	a0002c0002t0001 a0004c0006t0001 a0002c0002t0001 a0004c0006t0001	a0002c0002t0001g0002 a0002c0002t0001g0012 a0002c0002t0001g0013 others(48): Show a0002c0002t0001g0002 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0029 a0002c0002t0001g0045 a0002c0002t0001g0071 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0122 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0147 a0002c0002t0001g0151 a0002c0002t0001g0159 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0177 a0002c0002t0001g0182 a0002c0002t0001g0204 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0237 a0002c0002t0001g0239 a0002c0002t0001g0240 a0004c0006t0001g0161	59	274	0.2153	c.997 others(3): Show c.997A>C	p.Lys others(6): Show p.Lys333Gln	ACADL	ENSG00000115361.8	transcript	ENST00000233710.4	protein_coding	9/11	1181/2515	997/1293	333/430	chr2	TogoVar
ACADL_chr2_210182923_210230447	210216386	C C	T T	missense_variant missense_variant	MODERATE	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0161 a0004c0006t0001g0161	1	274	0.0037	c.497 others(3): Show c.497G>A	p.Cys others(6): Show p.Cys166Tyr	ACADL	ENSG00000115361.8	transcript	ENST00000233710.4	protein_coding	4/11	681/2515	497/1293	166/430	chr2	TogoVar
ACADL_chr2_210182923_210230447	210220767	G G	A A	missense_variant missense_variant	MODERATE	HG01081.hp1 HG01255.hp1 HG01261.hp1 others(1): Show HG01081.hp1 HG01255.hp1 HG01261.hp1 NA20752.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0217 a0003c0004t0001g0218 a0003c0004t0001g0219 others(1): Show a0003c0004t0001g0217 a0003c0004t0001g0218 a0003c0004t0001g0219 a0003c0004t0001g0238	4	274	0.0146	c.113 others(3): Show c.113C>T	p.Thr others(5): Show p.Thr38Ile	ACADL	ENSG00000115361.8	transcript	ENST00000233710.4	protein_coding	2/11	297/2515	113/1293	38/430	chr2	TogoVar
ACADM_chr1_75719709_75768679	75732712	G G	C C	missense_variant missense_variant	MODERATE	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0155 a0002c0006t0002g0155	1	364	0.0028	c.187 others(3): Show c.187G>C	p.Val others(5): Show p.Val63Leu	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	3/12	266/2261	187/1266	63/421	chr1	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)