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 (≤).

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⚠️ 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
ABCA13_chr7_48166458_48652497	48279710	C C	G G	missense_variant missense_variant	MODERATE	HG02109.hp2 HG02145.hp2 HG02258.hp1 others(2): Show HG02109.hp2 HG02145.hp2 HG02258.hp1 HG02976.hp2 HG03139.hp1	a0028 a0029 a0087 a0028 a0029 a0087	a0028c0015 a0029c0014 a0087c0039 a0028c0015 a0029c0014 a0087c0039	a0028c0015t0004 a0029c0014t0005 a0029c0014t0010 others(1): Show a0028c0015t0004 a0029c0014t0005 a0029c0014t0010 a0087c0039t0001	a0028c0015t0004g0173 a0028c0015t0004g0176 a0029c0014t0005g0119 others(2): Show a0028c0015t0004g0173 a0028c0015t0004g0176 a0029c0014t0005g0119 a0029c0014t0010g0174 a0087c0039t0001g0003	5	178	0.0281	c.851 others(4): Show c.8516C>G	p.Thr others(7): Show p.Thr2839Ser	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	18/62	8542/17188	8516/15177	2839/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48279806	A A	C C	missense_variant missense_variant	MODERATE	HG02723.hp2 HG06807.hp1 HG02723.hp2 HG06807.hp1	a0057 a0058 a0057 a0058	a0057c0036 a0058c0035 a0057c0036 a0058c0035	a0057c0036t0007 a0058c0035t0002 a0057c0036t0007 a0058c0035t0002	a0057c0036t0007g0083 a0058c0035t0002g0157 a0057c0036t0007g0083 a0058c0035t0002g0157	2	178	0.0112	c.861 others(4): Show c.8612A>C	p.Lys others(7): Show p.Lys2871Thr	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	18/62	8638/17188	8612/15177	2871/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48281413	G G	A A	missense_variant missense_variant	MODERATE	HG00544.hp1 HG01952.hp1 NA19007.hp1 others(2): Show HG00544.hp1 HG01952.hp1 NA19007.hp1 NA19083.hp2 NA19091.hp2	a0017 a0018 a0030 a0017 a0018 a0030	a0017c0096 a0017c0097 a0018c0029 others(1): Show a0017c0096 a0017c0097 a0018c0029 a0030c0042	a0017c0096t0001 a0017c0097t0001 a0018c0029t0001 others(2): Show a0017c0096t0001 a0017c0097t0001 a0018c0029t0001 a0018c0029t0004 a0030c0042t0004	a0017c0096t0001g0049 a0017c0097t0001g0084 a0018c0029t0001g0134 others(2): Show a0017c0096t0001g0049 a0017c0097t0001g0084 a0018c0029t0001g0134 a0018c0029t0004g0070 a0030c0042t0004g0073	5	178	0.0281	c.879 others(4): Show c.8797G>A	p.Val others(7): Show p.Val2933Met	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	19/62	8823/17188	8797/15177	2933/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48281446	G G	A A	missense_variant missense_variant	MODERATE	NA20129.hp1 NA20129.hp1	a0060 a0060	a0060c0070 a0060c0070	a0060c0070t0003 a0060c0070t0003	a0060c0070t0003g0014 a0060c0070t0003g0014	1	178	0.0056	c.883 others(4): Show c.8830G>A	p.Val others(7): Show p.Val2944Ile	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	19/62	8856/17188	8830/15177	2944/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48295707	A A	G G	missense_variant missense_variant	MODERATE	HG02083.hp1 HG02083.hp1	a0085 a0085	a0085c0060 a0085c0060	a0085c0060t0001 a0085c0060t0001	a0085c0060t0001g0100 a0085c0060t0001g0100	1	178	0.0056	c.896 others(4): Show c.8963A>G	p.Glu others(7): Show p.Glu2988Gly	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	21/62	8989/17188	8963/15177	2988/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48310050	C C	T T	missense_variant missense_variant	MODERATE	HG00544.hp1 HG01070.hp1 HG01167.hp2 others(16): Show HG00544.hp1 HG01070.hp1 HG01167.hp2 HG01516.hp2 HG01975.hp1 HG01993.hp2 HG02523.hp2 HG02897.hp2 HG03492.hp1 HG03654.hp2 HG04204.hp2 NA18906.hp1 NA18959.hp1 NA18971.hp1 NA19011.hp1 NA19062.hp2 NA19091.hp2 NA20805.hp2 NA20905.hp2	a0008 a0010 a0016 others(6): Show a0008 a0010 a0016 a0018 a0020 a0038 a0039 a0040 a0078	a0008c0013 a0008c0032 a0010c0031 others(10): Show a0008c0013 a0008c0032 a0010c0031 a0010c0033 a0016c0094 a0016c0095 a0018c0029 a0020c0034 a0020c0109 a0038c0108 a0039c0110 a0040c0111 a0078c0084	a0008c0013t0001 a0008c0013t0002 a0008c0013t0005 others(14): Show a0008c0013t0001 a0008c0013t0002 a0008c0013t0005 a0008c0032t0001 a0008c0032t0002 a0010c0031t0003 a0010c0033t0003 a0016c0094t0002 a0016c0095t0002 a0018c0029t0001 a0018c0029t0004 a0020c0034t0003 a0020c0109t0001 a0038c0108t0001 a0039c0110t0007 a0040c0111t0006 a0078c0084t0002	a0008c0013t0001g0111 a0008c0013t0002g0088 a0008c0013t0005g0045 others(16): Show a0008c0013t0001g0111 a0008c0013t0002g0088 a0008c0013t0005g0045 a0008c0032t0001g0079 a0008c0032t0002g0055 a0010c0031t0003g0115 a0010c0031t0003g0118 a0010c0033t0003g0060 a0010c0033t0003g0071 a0016c0094t0002g0078 a0016c0095t0002g0043 a0018c0029t0001g0134 a0018c0029t0004g0070 a0020c0034t0003g0117 a0020c0109t0001g0120 a0038c0108t0001g0113 a0039c0110t0007g0126 a0040c0111t0006g0031 a0078c0084t0002g0076	19	178	0.1067	c.942 others(4): Show c.9425C>T	p.Ala others(7): Show p.Ala3142Val	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	24/62	9451/17188	9425/15177	3142/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48313101	A A	G G	missense_variant missense_variant	MODERATE	HG02615.hp1 HG02723.hp2 HG06807.hp1 others(2): Show HG02615.hp1 HG02723.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2	a0054 a0057 a0058 others(2): Show a0054 a0057 a0058 a0076 a0077	a0054c0048 a0057c0036 a0058c0035 others(2): Show a0054c0048 a0057c0036 a0058c0035 a0076c0083 a0077c0082	a0054c0048t0004 a0057c0036t0007 a0058c0035t0002 others(2): Show a0054c0048t0004 a0057c0036t0007 a0058c0035t0002 a0076c0083t0003 a0077c0082t0005	a0054c0048t0004g0159 a0057c0036t0007g0083 a0058c0035t0002g0157 others(2): Show a0054c0048t0004g0159 a0057c0036t0007g0083 a0058c0035t0002g0157 a0076c0083t0003g0145 a0077c0082t0005g0146	5	178	0.0281	c.955 others(4): Show c.9551A>G	p.Asn others(7): Show p.Asn3184Ser	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	25/62	9577/17188	9551/15177	3184/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48313170	T T	C C	missense_variant missense_variant	MODERATE	HG02258.hp2 HG03453.hp2 HG02258.hp2 HG03453.hp2	a0047 a0048 a0047 a0048	a0047c0040 a0048c0041 a0047c0040 a0048c0041	a0047c0040t0001 a0048c0041t0004 a0047c0040t0001 a0048c0041t0004	a0047c0040t0001g0009 a0048c0041t0004g0039 a0047c0040t0001g0009 a0048c0041t0004g0039	2	178	0.0112	c.962 others(4): Show c.9620T>C	p.Leu others(7): Show p.Leu3207Pro	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	25/62	9646/17188	9620/15177	3207/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48338432	T T	A A	missense_variant missense_variant	MODERATE	NA20752.hp2 NA20752.hp2	a0033 a0033	a0033c0099 a0033c0099	a0033c0099t0002 a0033c0099t0002	a0033c0099t0002g0062 a0033c0099t0002g0062	1	178	0.0056	c.101 others(5): Show c.10181T>A	p.Leu others(7): Show p.Leu3394His	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	29/62	10207/17188	10181/15177	3394/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48350709	T T	C C	missense_variant missense_variant	MODERATE	NA18961.hp1 NA18961.hp1	a0037 a0037	a0037c0100 a0037c0100	a0037c0100t0001 a0037c0100t0001	a0037c0100t0001g0041 a0037c0100t0001g0041	1	178	0.0056	c.102 others(5): Show c.10271T>C	p.Leu others(7): Show p.Leu3424Ser	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	30/62	10297/17188	10271/15177	3424/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48367867	G G	A A	missense_variant missense_variant	MODERATE	HG02970.hp1 HG02970.hp1	a0079 a0079	a0079c0087 a0079c0087	a0079c0087t0002 a0079c0087t0002	a0079c0087t0002g0153 a0079c0087t0002g0153	1	178	0.0056	c.107 others(5): Show c.10762G>A	p.Val others(7): Show p.Val3588Ile	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	32/62	10788/17188	10762/15177	3588/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48372190	A A	C C	missense_variant missense_variant	MODERATE	HG01981.hp1 HG01981.hp1	a0072 a0072	a0072c0069 a0072c0069	a0072c0069t0001 a0072c0069t0001	a0072c0069t0001g0144 a0072c0069t0001g0144	1	178	0.0056	c.108 others(5): Show c.10826A>C	p.His others(7): Show p.His3609Pro	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	33/62	10852/17188	10826/15177	3609/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48372487	A A	T T	missense_variant missense_variant	MODERATE	HG00558.hp1 HG02071.hp1 NA18987.hp2 HG00558.hp1 HG02071.hp1 NA18987.hp2	a0019 a0067 a0019 a0067	a0019c0030 a0067c0068 a0019c0030 a0067c0068	a0019c0030t0003 a0067c0068t0002 a0019c0030t0003 a0067c0068t0002	a0019c0030t0003g0038 a0019c0030t0003g0068 a0067c0068t0002g0061 a0019c0030t0003g0038 a0019c0030t0003g0068 a0067c0068t0002g0061	3	178	0.0169	c.111 others(5): Show c.11123A>T	p.Gln others(7): Show p.Gln3708Leu	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	33/62	11149/17188	11123/15177	3708/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48387882	T T	C C	missense_variant missense_variant	MODERATE	HG06807.hp2 HG06807.hp2	a0054 a0054	a0054c0048 a0054c0048	a0054c0048t0004 a0054c0048t0004	a0054c0048t0004g0159 a0054c0048t0004g0159	1	178	0.0056	c.113 others(5): Show c.11396T>C	p.Val others(7): Show p.Val3799Ala	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	36/62	11422/17188	11396/15177	3799/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48389118	A A	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01952.hp2 HG02109.hp1 others(25): Show HG01167.hp2 HG01952.hp2 HG02109.hp1 HG02280.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp2 HG02809.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 NA18953.hp2 NA18956.hp2 NA18977.hp2 NA18987.hp1 NA18991.hp1 NA18998.hp2 NA19010.hp2 NA19043.hp2 NA19060.hp1 NA19074.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp2	a0005 a0009 a0014 others(10): Show a0005 a0009 a0014 a0015 a0020 a0021 a0023 a0049 a0060 a0061 a0062 a0068 a0080	a0005c0005 a0005c0024 a0009c0012 others(15): Show a0005c0005 a0005c0024 a0009c0012 a0009c0107 a0014c0019 a0014c0047 a0015c0025 a0015c0076 a0020c0034 a0020c0109 a0021c0028 a0023c0018 a0049c0055 a0060c0070 a0061c0074 a0062c0075 a0068c0067 a0080c0090	a0005c0005t0003 a0005c0024t0001 a0005c0024t0003 others(17): Show a0005c0005t0003 a0005c0024t0001 a0005c0024t0003 a0009c0012t0002 a0009c0107t0001 a0014c0019t0002 a0014c0047t0001 a0015c0025t0003 a0015c0076t0001 a0020c0034t0003 a0020c0109t0001 a0021c0028t0003 a0023c0018t0001 a0023c0018t0004 a0049c0055t0003 a0060c0070t0003 a0061c0074t0001 a0062c0075t0005 a0068c0067t0009 a0080c0090t0005	a0005c0005t0003g0090 a0005c0005t0003g0102 a0005c0005t0003g0103 others(25): Show a0005c0005t0003g0090 a0005c0005t0003g0102 a0005c0005t0003g0103 a0005c0005t0003g0132 a0005c0024t0001g0018 a0005c0024t0003g0107 a0009c0012t0002g0052 a0009c0012t0002g0072 a0009c0012t0002g0094 a0009c0107t0001g0112 a0014c0019t0002g0136 a0014c0019t0002g0175 a0014c0047t0001g0155 a0015c0025t0003g0024 a0015c0025t0003g0025 a0015c0076t0001g0021 a0020c0034t0003g0117 a0020c0109t0001g0120 a0021c0028t0003g0005 a0021c0028t0003g0011 a0023c0018t0001g0110 a0023c0018t0004g0091 a0049c0055t0003g0125 a0060c0070t0003g0014 a0061c0074t0001g0022 a0062c0075t0005g0023 a0068c0067t0009g0142 a0080c0090t0005g0104	28	178	0.1573	c.115 others(5): Show c.11552A>T	p.Tyr others(7): Show p.Tyr3851Phe	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	37/62	11578/17188	11552/15177	3851/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48391932	C C	T T	missense_variant missense_variant	MODERATE	HG02055.hp2 HG02572.hp1 HG02630.hp1 others(7): Show HG02055.hp2 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG03195.hp1 HG03486.hp1	a0024 a0034 a0035 others(6): Show a0024 a0034 a0035 a0063 a0064 a0069 a0070 a0071 a0081	a0024c0027 a0034c0105 a0035c0106 others(6): Show a0024c0027 a0034c0105 a0035c0106 a0063c0071 a0064c0073 a0069c0066 a0070c0064 a0071c0038 a0081c0086	a0024c0027t0001 a0024c0027t0006 a0034c0105t0005 others(7): Show a0024c0027t0001 a0024c0027t0006 a0034c0105t0005 a0035c0106t0005 a0063c0071t0005 a0064c0073t0005 a0069c0066t0001 a0070c0064t0001 a0071c0038t0005 a0081c0086t0009	a0024c0027t0001g0161 a0024c0027t0006g0162 a0034c0105t0005g0037 others(7): Show a0024c0027t0001g0161 a0024c0027t0006g0162 a0034c0105t0005g0037 a0035c0106t0005g0006 a0063c0071t0005g0105 a0064c0073t0005g0047 a0069c0066t0001g0143 a0070c0064t0001g0127 a0071c0038t0005g0135 a0081c0086t0009g0160	10	178	0.0562	c.116 others(5): Show c.11666C>T	p.Thr others(7): Show p.Thr3889Met	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	38/62	11692/17188	11666/15177	3889/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48391946	C C	T T	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02258.hp2	a0048 a0048	a0048c0041 a0048c0041	a0048c0041t0004 a0048c0041t0004	a0048c0041t0004g0039 a0048c0041t0004g0039	1	178	0.0056	c.116 others(5): Show c.11680C>T	p.Pro others(7): Show p.Pro3894Ser	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	38/62	11706/17188	11680/15177	3894/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48410588	C C	G G	missense_variant missense_variant	MODERATE	HG01433.hp1 HG01433.hp1	a0075 a0075	a0075c0081 a0075c0081	a0075c0081t0001 a0075c0081t0001	a0075c0081t0001g0148 a0075c0081t0001g0148	1	178	0.0056	c.121 others(5): Show c.12139C>G	p.Leu others(7): Show p.Leu4047Val	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	40/62	12165/17188	12139/15177	4047/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48410657	C C	T T	missense_variant missense_variant	MODERATE	HG02970.hp2 HG03195.hp1 HG02970.hp2 HG03195.hp1	a0034 a0063 a0034 a0063	a0034c0105 a0063c0071 a0034c0105 a0063c0071	a0034c0105t0005 a0063c0071t0005 a0034c0105t0005 a0063c0071t0005	a0034c0105t0005g0037 a0063c0071t0005g0105 a0034c0105t0005g0037 a0063c0071t0005g0105	2	178	0.0112	c.122 others(5): Show c.12208C>T	p.Arg others(7): Show p.Arg4070Cys	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	40/62	12234/17188	12208/15177	4070/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48412375	A A	T T	missense_variant missense_variant	MODERATE	HG03453.hp2 HG03453.hp2	a0047 a0047	a0047c0040 a0047c0040	a0047c0040t0001 a0047c0040t0001	a0047c0040t0001g0009 a0047c0040t0001g0009	1	178	0.0056	c.122 others(5): Show c.12251A>T	p.Asp others(7): Show p.Asp4084Val	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	41/62	12277/17188	12251/15177	4084/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48412378	T T	C C	missense_variant missense_variant	MODERATE	HG02630.hp1 HG02717.hp2 HG03486.hp1 HG02630.hp1 HG02717.hp2 HG03486.hp1	a0064 a0071 a0081 a0064 a0071 a0081	a0064c0073 a0071c0038 a0081c0086 a0064c0073 a0071c0038 a0081c0086	a0064c0073t0005 a0071c0038t0005 a0081c0086t0009 a0064c0073t0005 a0071c0038t0005 a0081c0086t0009	a0064c0073t0005g0047 a0071c0038t0005g0135 a0081c0086t0009g0160 a0064c0073t0005g0047 a0071c0038t0005g0135 a0081c0086t0009g0160	3	178	0.0169	c.122 others(5): Show c.12254T>C	p.Leu others(7): Show p.Leu4085Pro	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	41/62	12280/17188	12254/15177	4085/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48466969	A A	G G	missense_variant missense_variant	MODERATE	HG00558.hp2 HG00738.hp1 HG00741.hp2 others(55): Show HG00558.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp1 HG01192.hp1 HG01243.hp1 HG01433.hp1 HG01975.hp1 HG01993.hp2 HG02071.hp1 HG02109.hp1 HG02145.hp2 HG02572.hp1 HG02717.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03669.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18944.hp2 NA18956.hp2 NA18959.hp2 NA18961.hp1 NA18971.hp2 NA18977.hp2 NA18979.hp1 NA18986.hp2 NA18987.hp2 NA18991.hp1 NA18992.hp1 NA18998.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19062.hp2 NA19074.hp2 NA19083.hp1 NA19091.hp1 NA20129.hp1 NA20300.hp1	a0005 a0006 a0007 others(27): Show a0005 a0006 a0007 a0010 a0011 a0014 a0015 a0019 a0021 a0024 a0028 a0034 a0037 a0039 a0042 a0043 a0047 a0049 a0057 a0060 a0065 a0066 a0069 a0073 a0075 a0076 a0078 a0081 a0083 a0086	a0005c0005 a0005c0024 a0006c0007 others(37): Show a0005c0005 a0005c0024 a0006c0007 a0006c0023 a0006c0063 a0007c0011 a0007c0101 a0007c0102 a0010c0031 a0010c0033 a0011c0017 a0011c0044 a0011c0046 a0014c0019 a0014c0047 a0015c0025 a0015c0076 a0019c0030 a0021c0028 a0024c0027 a0028c0015 a0034c0105 a0037c0100 a0039c0110 a0042c0113 a0043c0093 a0047c0040 a0049c0055 a0057c0036 a0060c0070 a0065c0091 a0066c0062 a0069c0066 a0073c0078 a0075c0081 a0076c0083 a0078c0084 a0081c0086 a0083c0077 a0086c0059	a0005c0005t0003 a0005c0024t0001 a0005c0024t0003 others(42): Show a0005c0005t0003 a0005c0024t0001 a0005c0024t0003 a0006c0007t0002 a0006c0007t0003 a0006c0023t0003 a0006c0063t0001 a0007c0011t0003 a0007c0011t0007 a0007c0101t0003 a0007c0102t0001 a0010c0031t0003 a0010c0033t0003 a0011c0017t0002 a0011c0017t0003 a0011c0044t0001 a0011c0046t0002 a0014c0019t0002 a0014c0047t0001 a0015c0025t0003 a0015c0076t0001 a0019c0030t0003 a0021c0028t0003 a0024c0027t0001 a0024c0027t0006 a0028c0015t0004 a0034c0105t0005 a0037c0100t0001 a0039c0110t0007 a0042c0113t0003 a0043c0093t0002 a0047c0040t0001 a0049c0055t0003 a0057c0036t0007 a0060c0070t0003 a0065c0091t0001 a0066c0062t0003 a0069c0066t0001 a0073c0078t0003 a0075c0081t0001 a0076c0083t0003 a0078c0084t0002 a0081c0086t0009 a0083c0077t0003 a0086c0059t0003	a0005c0005t0003g0090 a0005c0005t0003g0102 a0005c0005t0003g0103 others(55): Show a0005c0005t0003g0090 a0005c0005t0003g0102 a0005c0005t0003g0103 a0005c0005t0003g0132 a0005c0024t0001g0018 a0005c0024t0003g0107 a0006c0007t0002g0129 a0006c0007t0003g0121 a0006c0007t0003g0137 a0006c0023t0003g0138 a0006c0023t0003g0171 a0006c0063t0001g0010 a0007c0011t0003g0051 a0007c0011t0003g0130 a0007c0011t0007g0165 a0007c0101t0003g0139 a0007c0102t0001g0020 a0010c0031t0003g0115 a0010c0031t0003g0118 a0010c0033t0003g0060 a0010c0033t0003g0071 a0011c0017t0002g0048 a0011c0017t0003g0067 a0011c0044t0001g0096 a0011c0046t0002g0089 a0014c0019t0002g0136 a0014c0019t0002g0175 a0014c0047t0001g0155 a0015c0025t0003g0024 a0015c0025t0003g0025 a0015c0076t0001g0021 a0019c0030t0003g0038 a0019c0030t0003g0068 a0021c0028t0003g0005 a0021c0028t0003g0011 a0024c0027t0001g0161 a0024c0027t0006g0162 a0028c0015t0004g0173 a0028c0015t0004g0176 a0034c0105t0005g0037 a0037c0100t0001g0041 a0039c0110t0007g0126 a0042c0113t0003g0093 a0043c0093t0002g0150 a0047c0040t0001g0009 a0049c0055t0003g0125 a0057c0036t0007g0083 a0060c0070t0003g0014 a0065c0091t0001g0109 a0066c0062t0003g0141 a0069c0066t0001g0143 a0073c0078t0003g0170 a0075c0081t0001g0148 a0076c0083t0003g0145 a0078c0084t0002g0076 a0081c0086t0009g0160 a0083c0077t0003g0046 a0086c0059t0003g0172	58	178	0.3258	c.128 others(5): Show c.12829A>G	p.Asn others(7): Show p.Asn4277Asp	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	44/62	12855/17188	12829/15177	4277/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48467045	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00558.hp2 HG00738.hp1 HG00741.hp2 others(55): Show HG00558.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp1 HG01192.hp1 HG01243.hp1 HG01433.hp1 HG01975.hp1 HG01993.hp2 HG02071.hp1 HG02109.hp1 HG02145.hp2 HG02572.hp1 HG02717.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03669.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18944.hp2 NA18956.hp2 NA18959.hp2 NA18961.hp1 NA18971.hp2 NA18977.hp2 NA18979.hp1 NA18986.hp2 NA18987.hp2 NA18991.hp1 NA18992.hp1 NA18998.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19062.hp2 NA19074.hp2 NA19083.hp1 NA19091.hp1 NA20129.hp1 NA20300.hp1	a0005 a0006 a0007 others(27): Show a0005 a0006 a0007 a0010 a0011 a0014 a0015 a0019 a0021 a0024 a0028 a0034 a0037 a0039 a0042 a0043 a0047 a0049 a0057 a0060 a0065 a0066 a0069 a0073 a0075 a0076 a0078 a0081 a0083 a0086	a0005c0005 a0005c0024 a0006c0007 others(37): Show a0005c0005 a0005c0024 a0006c0007 a0006c0023 a0006c0063 a0007c0011 a0007c0101 a0007c0102 a0010c0031 a0010c0033 a0011c0017 a0011c0044 a0011c0046 a0014c0019 a0014c0047 a0015c0025 a0015c0076 a0019c0030 a0021c0028 a0024c0027 a0028c0015 a0034c0105 a0037c0100 a0039c0110 a0042c0113 a0043c0093 a0047c0040 a0049c0055 a0057c0036 a0060c0070 a0065c0091 a0066c0062 a0069c0066 a0073c0078 a0075c0081 a0076c0083 a0078c0084 a0081c0086 a0083c0077 a0086c0059	a0005c0005t0003 a0005c0024t0001 a0005c0024t0003 others(42): Show a0005c0005t0003 a0005c0024t0001 a0005c0024t0003 a0006c0007t0002 a0006c0007t0003 a0006c0023t0003 a0006c0063t0001 a0007c0011t0003 a0007c0011t0007 a0007c0101t0003 a0007c0102t0001 a0010c0031t0003 a0010c0033t0003 a0011c0017t0002 a0011c0017t0003 a0011c0044t0001 a0011c0046t0002 a0014c0019t0002 a0014c0047t0001 a0015c0025t0003 a0015c0076t0001 a0019c0030t0003 a0021c0028t0003 a0024c0027t0001 a0024c0027t0006 a0028c0015t0004 a0034c0105t0005 a0037c0100t0001 a0039c0110t0007 a0042c0113t0003 a0043c0093t0002 a0047c0040t0001 a0049c0055t0003 a0057c0036t0007 a0060c0070t0003 a0065c0091t0001 a0066c0062t0003 a0069c0066t0001 a0073c0078t0003 a0075c0081t0001 a0076c0083t0003 a0078c0084t0002 a0081c0086t0009 a0083c0077t0003 a0086c0059t0003	a0005c0005t0003g0090 a0005c0005t0003g0102 a0005c0005t0003g0103 others(55): Show a0005c0005t0003g0090 a0005c0005t0003g0102 a0005c0005t0003g0103 a0005c0005t0003g0132 a0005c0024t0001g0018 a0005c0024t0003g0107 a0006c0007t0002g0129 a0006c0007t0003g0121 a0006c0007t0003g0137 a0006c0023t0003g0138 a0006c0023t0003g0171 a0006c0063t0001g0010 a0007c0011t0003g0051 a0007c0011t0003g0130 a0007c0011t0007g0165 a0007c0101t0003g0139 a0007c0102t0001g0020 a0010c0031t0003g0115 a0010c0031t0003g0118 a0010c0033t0003g0060 a0010c0033t0003g0071 a0011c0017t0002g0048 a0011c0017t0003g0067 a0011c0044t0001g0096 a0011c0046t0002g0089 a0014c0019t0002g0136 a0014c0019t0002g0175 a0014c0047t0001g0155 a0015c0025t0003g0024 a0015c0025t0003g0025 a0015c0076t0001g0021 a0019c0030t0003g0038 a0019c0030t0003g0068 a0021c0028t0003g0005 a0021c0028t0003g0011 a0024c0027t0001g0161 a0024c0027t0006g0162 a0028c0015t0004g0173 a0028c0015t0004g0176 a0034c0105t0005g0037 a0037c0100t0001g0041 a0039c0110t0007g0126 a0042c0113t0003g0093 a0043c0093t0002g0150 a0047c0040t0001g0009 a0049c0055t0003g0125 a0057c0036t0007g0083 a0060c0070t0003g0014 a0065c0091t0001g0109 a0066c0062t0003g0141 a0069c0066t0001g0143 a0073c0078t0003g0170 a0075c0081t0001g0148 a0076c0083t0003g0145 a0078c0084t0002g0076 a0081c0086t0009g0160 a0083c0077t0003g0046 a0086c0059t0003g0172	58	178	0.3258	c.129 others(5): Show c.12905A>G	p.Gln others(7): Show p.Gln4302Arg	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	44/62	12931/17188	12905/15177	4302/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48481063	C C	G G	missense_variant missense_variant	MODERATE	HG02970.hp2 HG03453.hp2 HG02970.hp2 HG03453.hp2	a0034 a0047 a0034 a0047	a0034c0105 a0047c0040 a0034c0105 a0047c0040	a0034c0105t0005 a0047c0040t0001 a0034c0105t0005 a0047c0040t0001	a0034c0105t0005g0037 a0047c0040t0001g0009 a0034c0105t0005g0037 a0047c0040t0001g0009	2	178	0.0112	c.130 others(5): Show c.13003C>G	p.Pro others(7): Show p.Pro4335Ala	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	46/62	13029/17188	13003/15177	4335/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48481089	C C	A A	missense_variant missense_variant	MODERATE	NA18953.hp1 NA18953.hp1	a0052 a0052	a0052c0052 a0052c0052	a0052c0052t0001 a0052c0052t0001	a0052c0052t0001g0097 a0052c0052t0001g0097	1	178	0.0056	c.130 others(5): Show c.13029C>A	p.His others(7): Show p.His4343Gln	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	46/62	13055/17188	13029/15177	4343/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48489326	G G	C C	missense_variant missense_variant	MODERATE	HG01243.hp2 HG02258.hp1 HG02572.hp2 others(10): Show HG01243.hp2 HG02258.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02717.hp2 HG02965.hp2 HG02976.hp1 HG03139.hp1 HG03195.hp1 HG03471.hp2 HG03579.hp1 NA19043.hp1	a0022 a0027 a0029 others(7): Show a0022 a0027 a0029 a0061 a0063 a0064 a0071 a0077 a0080 a0082	a0022c0020 a0027c0021 a0029c0014 others(7): Show a0022c0020 a0027c0021 a0029c0014 a0061c0074 a0063c0071 a0064c0073 a0071c0038 a0077c0082 a0080c0090 a0082c0088	a0022c0020t0001 a0022c0020t0005 a0027c0021t0008 others(9): Show a0022c0020t0001 a0022c0020t0005 a0027c0021t0008 a0029c0014t0005 a0029c0014t0010 a0061c0074t0001 a0063c0071t0005 a0064c0073t0005 a0071c0038t0005 a0077c0082t0005 a0080c0090t0005 a0082c0088t0005	a0022c0020t0001g0007 a0022c0020t0005g0123 a0027c0021t0008g0056 others(10): Show a0022c0020t0001g0007 a0022c0020t0005g0123 a0027c0021t0008g0056 a0027c0021t0008g0077 a0029c0014t0005g0119 a0029c0014t0010g0174 a0061c0074t0001g0022 a0063c0071t0005g0105 a0064c0073t0005g0047 a0071c0038t0005g0135 a0077c0082t0005g0146 a0080c0090t0005g0104 a0082c0088t0005g0152	13	178	0.0730	c.132 others(5): Show c.13273G>C	p.Val others(7): Show p.Val4425Leu	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	48/62	13299/17188	13273/15177	4425/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48507915	C C	A A	missense_variant missense_variant	MODERATE	NA20752.hp2 NA20752.hp2	a0033 a0033	a0033c0099 a0033c0099	a0033c0099t0002 a0033c0099t0002	a0033c0099t0002g0062 a0033c0099t0002g0062	1	178	0.0056	c.133 others(5): Show c.13390C>A	p.Leu others(7): Show p.Leu4464Met	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	50/62	13416/17188	13390/15177	4464/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48507969	G G	T T	missense_variant missense_variant	MODERATE	HG02055.hp2 HG02809.hp1 HG02970.hp1 HG02055.hp2 HG02809.hp1 HG02970.hp1	a0050 a0070 a0079 a0050 a0070 a0079	a0050c0054 a0070c0064 a0079c0087 a0050c0054 a0070c0064 a0079c0087	a0050c0054t0002 a0070c0064t0001 a0079c0087t0002 a0050c0054t0002 a0070c0064t0001 a0079c0087t0002	a0050c0054t0002g0015 a0070c0064t0001g0127 a0079c0087t0002g0153 a0050c0054t0002g0015 a0070c0064t0001g0127 a0079c0087t0002g0153	3	178	0.0169	c.134 others(5): Show c.13444G>T	p.Val others(7): Show p.Val4482Leu	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	50/62	13470/17188	13444/15177	4482/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48511175	C C	T T	missense_variant missense_variant	MODERATE	HG02922.hp2 HG02922.hp2	a0036 a0036	a0036c0098 a0036c0098	a0036c0098t0001 a0036c0098t0001	a0036c0098t0001g0069 a0036c0098t0001g0069	1	178	0.0056	c.136 others(5): Show c.13616C>T	p.Thr others(7): Show p.Thr4539Met	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	51/62	13642/17188	13616/15177	4539/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48580241	C C	A A	missense_variant missense_variant	MODERATE	HG02622.hp1 HG02622.hp1	a0074 a0074	a0074c0080 a0074c0080	a0074c0080t0013 a0074c0080t0013	a0074c0080t0013g0158 a0074c0080t0013g0158	1	178	0.0056	c.143 others(5): Show c.14372C>A	p.Ser others(7): Show p.Ser4791Tyr	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	56/62	14398/17188	14372/15177	4791/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48594795	C C	T T	missense_variant missense_variant	MODERATE	NA18959.hp1 NA18959.hp1	a0038 a0038	a0038c0108 a0038c0108	a0038c0108t0001 a0038c0108t0001	a0038c0108t0001g0113 a0038c0108t0001g0113	1	178	0.0056	c.147 others(5): Show c.14726C>T	p.Ala others(7): Show p.Ala4909Val	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	58/62	14752/17188	14726/15177	4909/5058	chr7	TogoVar
ABCA1_chr9_104776006_104933155	104784372	G G	T T	missense_variant missense_variant	MODERATE	HG02486.hp1 HG02572.hp1 HG02723.hp1 HG02486.hp1 HG02572.hp1 HG02723.hp1	a0022 a0023 a0033 a0022 a0023 a0033	a0022c0050 a0023c0072 a0033c0101 a0022c0050 a0023c0072 a0033c0101	a0022c0050t0001 a0023c0072t0001 a0033c0101t0001 a0022c0050t0001 a0023c0072t0001 a0033c0101t0001	a0022c0050t0001g0166 a0023c0072t0001g0309 a0033c0101t0001g0308 a0022c0050t0001g0166 a0023c0072t0001g0309 a0033c0101t0001g0308	3	318	0.0094	c.672 others(4): Show c.6729C>A	p.Asp others(7): Show p.Asp2243Glu	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	50/50	7042/10408	6729/6786	2243/2261	chr9	TogoVar
ABCA1_chr9_104776006_104933155	104792796	T T	G G	missense_variant missense_variant	MODERATE	HG03139.hp2 HG03139.hp2	a0029 a0029	a0029c0110 a0029c0110	a0029c0110t0002 a0029c0110t0002	a0029c0110t0002g0165 a0029c0110t0002g0165	1	318	0.0031	c.574 others(4): Show c.5747A>C	p.Glu others(7): Show p.Glu1916Ala	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	42/50	6060/10408	5747/6786	1916/2261	chr9	TogoVar
ABCA1_chr9_104776006_104933155	104798522	C C	T T	missense_variant missense_variant	MODERATE	NA19080.hp2 NA19080.hp2	a0031 a0031	a0031c0067 a0031c0067	a0031c0067t0006 a0031c0067t0006	a0031c0067t0006g0223 a0031c0067t0006g0223	1	318	0.0031	c.502 others(4): Show c.5020G>A	p.Val others(7): Show p.Val1674Ile	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	37/50	5333/10408	5020/6786	1674/2261	chr9	TogoVar
ABCA1_chr9_104776006_104933155	104800523	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(148): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02293.hp2 HG02300.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG03239.hp1 HG03490.hp1 HG03492.hp2 HG03688.hp2 HG03704.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18747.hp1 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19060.hp2 NA19066.hp2 NA19068.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 others(12): Show a0001 a0003 a0006 a0009 a0010 a0014 a0016 a0020 a0021 a0024 a0026 a0028 a0030 a0036 a0037	a0001c0001 a0001c0005 a0001c0035 others(32): Show a0001c0001 a0001c0005 a0001c0035 a0001c0092 a0001c0097 a0001c0108 a0001c0109 a0003c0002 a0003c0009 a0003c0038 a0003c0056 a0003c0076 a0003c0077 a0006c0004 a0006c0012 a0006c0063 a0006c0089 a0009c0018 a0009c0021 a0009c0027 a0009c0028 a0010c0007 a0010c0030 a0014c0023 a0014c0053 a0014c0054 a0016c0019 a0020c0045 a0021c0060 a0024c0073 a0026c0111 a0028c0095 a0030c0100 a0036c0094 a0037c0088	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(80): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0023 a0001c0001t0039 a0001c0001t0043 a0001c0001t0049 a0001c0001t0052 a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 a0001c0005t0010 a0001c0035t0004 a0001c0035t0009 a0001c0092t0012 a0001c0097t0001 a0001c0108t0002 a0001c0109t0001 a0003c0002t0002 a0003c0002t0003 a0003c0002t0007 a0003c0002t0010 a0003c0002t0014 a0003c0002t0028 a0003c0002t0050 a0003c0009t0001 a0003c0009t0003 a0003c0009t0006 a0003c0009t0046 a0003c0009t0051 a0003c0038t0003 a0003c0038t0005 a0003c0056t0001 a0003c0076t0002 a0003c0077t0005 a0006c0004t0002 a0006c0004t0003 a0006c0004t0004 a0006c0004t0005 a0006c0004t0006 a0006c0004t0010 a0006c0004t0011 a0006c0004t0042 a0006c0004t0045 a0006c0012t0001 a0006c0012t0002 a0006c0012t0010 a0006c0063t0003 a0006c0089t0003 a0009c0018t0003 a0009c0018t0004 a0009c0018t0038 a0009c0021t0001 a0009c0021t0004 a0009c0027t0004 a0009c0027t0006 a0009c0028t0009 a0009c0028t0048 a0010c0007t0002 a0010c0007t0003 a0010c0007t0010 a0010c0030t0001 a0010c0030t0022 a0014c0023t0007 a0014c0023t0017 a0014c0023t0036 a0014c0053t0002 a0014c0054t0010 a0016c0019t0006 a0016c0019t0018 a0020c0045t0002 a0021c0060t0001 a0024c0073t0019 a0026c0111t0002 a0028c0095t0002 a0030c0100t0009 a0036c0094t0009 a0037c0088t0034	a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0077 others(148): Show a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0102 a0001c0001t0001g0121 a0001c0001t0001g0176 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0001g0218 a0001c0001t0001g0238 a0001c0001t0001g0291 a0001c0001t0002g0074 a0001c0001t0002g0137 a0001c0001t0002g0233 a0001c0001t0003g0086 a0001c0001t0003g0089 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0297 a0001c0001t0004g0021 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0006g0047 a0001c0001t0006g0054 a0001c0001t0006g0058 a0001c0001t0006g0214 a0001c0001t0006g0225 a0001c0001t0006g0239 a0001c0001t0007g0183 a0001c0001t0011g0085 a0001c0001t0012g0039 a0001c0001t0012g0144 a0001c0001t0023g0295 a0001c0001t0023g0296 a0001c0001t0039g0246 a0001c0001t0043g0002 a0001c0001t0049g0034 a0001c0001t0052g0318 a0001c0005t0001g0050 a0001c0005t0002g0017 a0001c0005t0002g0031 a0001c0005t0002g0062 a0001c0005t0002g0064 a0001c0005t0002g0123 a0001c0005t0002g0129 a0001c0005t0002g0192 a0001c0005t0002g0254 a0001c0005t0004g0167 a0001c0005t0010g0043 a0001c0035t0004g0011 a0001c0035t0009g0071 a0001c0092t0012g0220 a0001c0097t0001g0106 a0001c0108t0002g0113 a0001c0109t0001g0232 a0003c0002t0002g0040 a0003c0002t0002g0041 a0003c0002t0002g0044 a0003c0002t0002g0045 a0003c0002t0002g0069 a0003c0002t0002g0070 a0003c0002t0002g0122 a0003c0002t0002g0126 a0003c0002t0002g0172 a0003c0002t0002g0184 a0003c0002t0002g0205 a0003c0002t0002g0257 a0003c0002t0003g0127 a0003c0002t0007g0059 a0003c0002t0010g0270 a0003c0002t0014g0066 a0003c0002t0028g0261 a0003c0002t0050g0068 a0003c0009t0001g0279 a0003c0009t0003g0073 a0003c0009t0003g0138 a0003c0009t0003g0178 a0003c0009t0003g0209 a0003c0009t0006g0186 a0003c0009t0046g0219 a0003c0009t0051g0145 a0003c0038t0003g0293 a0003c0038t0005g0307 a0003c0056t0001g0288 a0003c0076t0002g0130 a0003c0077t0005g0312 a0006c0004t0002g0132 a0006c0004t0002g0133 a0006c0004t0003g0190 a0006c0004t0004g0067 a0006c0004t0004g0227 a0006c0004t0005g0206 a0006c0004t0006g0249 a0006c0004t0010g0252 a0006c0004t0011g0269 a0006c0004t0042g0265 a0006c0004t0045g0155 a0006c0012t0001g0090 a0006c0012t0001g0212 a0006c0012t0002g0028 a0006c0012t0002g0060 a0006c0012t0002g0140 a0006c0012t0002g0226 a0006c0012t0010g0198 a0006c0063t0003g0151 a0006c0089t0003g0180 a0009c0018t0003g0248 a0009c0018t0003g0253 a0009c0018t0004g0292 a0009c0018t0038g0228 a0009c0021t0001g0174 a0009c0021t0001g0189 a0009c0021t0004g0204 a0009c0027t0004g0124 a0009c0027t0006g0224 a0009c0027t0006g0267 a0009c0028t0009g0092 a0009c0028t0009g0093 a0009c0028t0048g0241 a0010c0007t0002g0012 a0010c0007t0002g0013 a0010c0007t0002g0015 a0010c0007t0002g0125 a0010c0007t0003g0149 a0010c0007t0010g0139 a0010c0007t0010g0185 a0010c0007t0010g0200 a0010c0007t0010g0201 a0010c0030t0001g0053 a0010c0030t0022g0191 a0014c0023t0007g0115 a0014c0023t0017g0105 a0014c0023t0036g0104 a0014c0053t0002g0146 a0014c0054t0010g0251 a0016c0019t0006g0250 a0016c0019t0018g0117 a0016c0019t0018g0131 a0016c0019t0018g0177 a0020c0045t0002g0299 a0021c0060t0001g0078 a0024c0073t0019g0231 a0026c0111t0002g0065 a0028c0095t0002g0114 a0030c0100t0009g0268 a0036c0094t0009g0079 a0037c0088t0034g0298	151	318	0.4748	c.476 others(4): Show c.4760A>G	p.Lys others(7): Show p.Lys1587Arg	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	35/50	5073/10408	4760/6786	1587/2261	chr9	TogoVar
ABCA1_chr9_104776006_104933155	104814451	T T	G G	missense_variant missense_variant	MODERATE	HG01109.hp1 HG01243.hp2 HG01109.hp1 HG01243.hp2	a0018 a0018	a0018c0079 a0018c0080 a0018c0079 a0018c0080	a0018c0079t0004 a0018c0080t0004 a0018c0079t0004 a0018c0080t0004	a0018c0079t0004g0314 a0018c0080t0004g0107 a0018c0079t0004g0314 a0018c0080t0004g0107	2	318	0.0063	c.376 others(4): Show c.3763A>C	p.Ser others(7): Show p.Ser1255Arg	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	26/50	4076/10408	3763/6786	1255/2261	chr9	TogoVar
ABCA1_chr9_104776006_104933155	104817351	C C	G G	missense_variant missense_variant	MODERATE	HG02109.hp1 HG02145.hp1 HG02280.hp1 others(19): Show HG02109.hp1 HG02145.hp1 HG02280.hp1 HG02300.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02886.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03540.hp2 HG03579.hp1 HG03831.hp2 HG06807.hp1 NA19240.hp2 NA21309.hp2	a0011 a0015 a0017 others(8): Show a0011 a0015 a0017 a0022 a0023 a0024 a0027 a0028 a0032 a0033 a0034	a0011c0010 a0011c0055 a0015c0020 others(10): Show a0011c0010 a0011c0055 a0015c0020 a0015c0061 a0017c0034 a0022c0050 a0023c0072 a0024c0073 a0027c0062 a0028c0095 a0032c0104 a0033c0101 a0034c0103	a0011c0010t0005 a0011c0010t0037 a0011c0055t0001 others(12): Show a0011c0010t0005 a0011c0010t0037 a0011c0055t0001 a0015c0020t0001 a0015c0020t0004 a0015c0061t0001 a0017c0034t0001 a0022c0050t0001 a0023c0072t0001 a0024c0073t0019 a0027c0062t0001 a0028c0095t0002 a0032c0104t0005 a0033c0101t0001 a0034c0103t0007	a0011c0010t0005g0097 a0011c0010t0005g0169 a0011c0010t0005g0255 others(19): Show a0011c0010t0005g0097 a0011c0010t0005g0169 a0011c0010t0005g0255 a0011c0010t0005g0258 a0011c0010t0005g0286 a0011c0010t0005g0287 a0011c0010t0037g0181 a0011c0055t0001g0259 a0015c0020t0001g0006 a0015c0020t0001g0160 a0015c0020t0004g0005 a0015c0061t0001g0080 a0017c0034t0001g0153 a0017c0034t0001g0300 a0022c0050t0001g0166 a0023c0072t0001g0309 a0024c0073t0019g0231 a0027c0062t0001g0310 a0028c0095t0002g0114 a0032c0104t0005g0168 a0033c0101t0001g0308 a0034c0103t0007g0240	22	318	0.0692	c.351 others(4): Show c.3516G>C	p.Glu others(7): Show p.Glu1172Asp	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	24/50	3829/10408	3516/6786	1172/2261	chr9	TogoVar
ABCA1_chr9_104776006_104933155	104817352	T T	C C	missense_variant missense_variant	MODERATE	HG04204.hp2 HG04204.hp2	a0030 a0030	a0030c0100 a0030c0100	a0030c0100t0009 a0030c0100t0009	a0030c0100t0009g0268 a0030c0100t0009g0268	1	318	0.0031	c.351 others(4): Show c.3515A>G	p.Glu others(7): Show p.Glu1172Gly	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	24/50	3828/10408	3515/6786	1172/2261	chr9	TogoVar
ABCA1_chr9_104776006_104933155	104819706	G G	C C	missense_variant missense_variant	MODERATE	NA18964.hp2 NA18969.hp2 NA18978.hp2 others(1): Show NA18964.hp2 NA18969.hp2 NA18978.hp2 NA18982.hp2	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0006 a0016c0019t0018 a0016c0019t0006 a0016c0019t0018	a0016c0019t0006g0250 a0016c0019t0018g0117 a0016c0019t0018g0131 others(1): Show a0016c0019t0006g0250 a0016c0019t0018g0117 a0016c0019t0018g0131 a0016c0019t0018g0177	4	318	0.0126	c.312 others(4): Show c.3121C>G	p.Leu others(7): Show p.Leu1041Val	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	22/50	3434/10408	3121/6786	1041/2261	chr9	TogoVar
ABCA1_chr9_104776006_104933155	104819977	T T	C C	missense_variant missense_variant	MODERATE	HG02300.hp1 HG02300.hp1	a0034 a0034	a0034c0103 a0034c0103	a0034c0103t0007 a0034c0103t0007	a0034c0103t0007g0240 a0034c0103t0007g0240	1	318	0.0031	c.305 others(4): Show c.3053A>G	p.Asp others(7): Show p.Asp1018Gly	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	21/50	3366/10408	3053/6786	1018/2261	chr9	TogoVar
ABCA1_chr9_104776006_104933155	104822664	C C	A A	missense_variant missense_variant	MODERATE	NA19080.hp2 NA19080.hp2	a0031 a0031	a0031c0067 a0031c0067	a0031c0067t0006 a0031c0067t0006	a0031c0067t0006g0223 a0031c0067t0006g0223	1	318	0.0031	c.266 others(4): Show c.2660G>T	p.Cys others(6): Show p.Cys887Phe	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	19/50	2973/10408	2660/6786	887/2261	chr9	TogoVar
ABCA1_chr9_104776006_104933155	104824472	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00408.hp2 HG00423.hp2 others(142): Show HG00099.hp2 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG01106.hp1 HG01109.hp1 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp2 HG01361.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01952.hp2 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp1 HG03834.hp1 HG03927.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18949.hp1 NA18955.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18978.hp1 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18999.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19060.hp1 NA19066.hp1 NA19066.hp2 NA19078.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2	a0002 a0003 a0006 others(14): Show a0002 a0003 a0006 a0007 a0011 a0012 a0013 a0014 a0018 a0023 a0024 a0025 a0032 a0033 a0034 a0035 a0038	a0002c0011 a0002c0015 a0002c0017 others(49): Show a0002c0011 a0002c0015 a0002c0017 a0002c0024 a0002c0025 a0002c0031 a0002c0032 a0002c0033 a0002c0037 a0002c0046 a0002c0057 a0002c0058 a0002c0059 a0002c0074 a0002c0075 a0002c0078 a0002c0081 a0002c0085 a0003c0002 a0003c0009 a0003c0038 a0003c0056 a0003c0076 a0003c0077 a0006c0004 a0006c0012 a0006c0063 a0006c0089 a0007c0003 a0007c0090 a0011c0010 a0011c0055 a0012c0040 a0012c0041 a0012c0065 a0012c0093 a0012c0102 a0012c0105 a0013c0013 a0014c0023 a0014c0053 a0014c0054 a0018c0079 a0018c0080 a0023c0072 a0024c0073 a0025c0083 a0032c0104 a0033c0101 a0034c0103 a0035c0091 a0038c0068	a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 others(99): Show a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 a0002c0011t0020 a0002c0015t0002 a0002c0015t0004 a0002c0015t0013 a0002c0015t0031 a0002c0017t0002 a0002c0017t0015 a0002c0017t0026 a0002c0024t0008 a0002c0025t0007 a0002c0025t0008 a0002c0025t0015 a0002c0031t0001 a0002c0032t0001 a0002c0033t0002 a0002c0033t0032 a0002c0037t0001 a0002c0037t0011 a0002c0046t0002 a0002c0057t0001 a0002c0058t0007 a0002c0059t0001 a0002c0074t0027 a0002c0075t0027 a0002c0078t0001 a0002c0081t0013 a0002c0085t0008 a0003c0002t0002 a0003c0002t0003 a0003c0002t0007 a0003c0002t0010 a0003c0002t0014 a0003c0002t0028 a0003c0002t0050 a0003c0009t0001 a0003c0009t0003 a0003c0009t0006 a0003c0009t0046 a0003c0009t0051 a0003c0038t0003 a0003c0038t0005 a0003c0056t0001 a0003c0076t0002 a0003c0077t0005 a0006c0004t0002 a0006c0004t0003 a0006c0004t0004 a0006c0004t0005 a0006c0004t0006 a0006c0004t0010 a0006c0004t0011 a0006c0004t0042 a0006c0004t0045 a0006c0012t0001 a0006c0012t0002 a0006c0012t0010 a0006c0063t0003 a0006c0089t0003 a0007c0003t0002 a0007c0003t0003 a0007c0003t0004 a0007c0003t0006 a0007c0003t0009 a0007c0003t0011 a0007c0003t0014 a0007c0003t0016 a0007c0003t0020 a0007c0003t0033 a0007c0003t0035 a0007c0090t0007 a0011c0010t0005 a0011c0010t0037 a0011c0055t0001 a0012c0040t0029 a0012c0040t0040 a0012c0041t0001 a0012c0041t0002 a0012c0065t0007 a0012c0093t0001 a0012c0102t0007 a0012c0105t0024 a0013c0013t0002 a0013c0013t0003 a0013c0013t0025 a0014c0023t0007 a0014c0023t0017 a0014c0023t0036 a0014c0053t0002 a0014c0054t0010 a0018c0079t0004 a0018c0080t0004 a0023c0072t0001 a0024c0073t0019 a0025c0083t0001 a0032c0104t0005 a0033c0101t0001 a0034c0103t0007 a0035c0091t0008 a0038c0068t0044	a0002c0011t0004g0112 a0002c0011t0004g0213 a0002c0011t0004g0263 others(142): Show a0002c0011t0004g0112 a0002c0011t0004g0213 a0002c0011t0004g0263 a0002c0011t0007g0119 a0002c0011t0007g0247 a0002c0011t0012g0134 a0002c0011t0020g0171 a0002c0015t0002g0315 a0002c0015t0004g0004 a0002c0015t0013g0305 a0002c0015t0013g0306 a0002c0015t0031g0084 a0002c0017t0002g0271 a0002c0017t0015g0101 a0002c0017t0026g0163 a0002c0017t0026g0276 a0002c0024t0008g0003 a0002c0024t0008g0008 a0002c0024t0008g0109 a0002c0025t0007g0237 a0002c0025t0008g0285 a0002c0025t0015g0283 a0002c0031t0001g0152 a0002c0031t0001g0278 a0002c0032t0001g0025 a0002c0032t0001g0317 a0002c0033t0002g0301 a0002c0033t0032g0024 a0002c0037t0001g0275 a0002c0037t0011g0116 a0002c0046t0002g0154 a0002c0057t0001g0148 a0002c0058t0007g0143 a0002c0059t0001g0235 a0002c0074t0027g0290 a0002c0075t0027g0150 a0002c0078t0001g0216 a0002c0081t0013g0277 a0002c0085t0008g0142 a0003c0002t0002g0040 a0003c0002t0002g0041 a0003c0002t0002g0044 a0003c0002t0002g0045 a0003c0002t0002g0069 a0003c0002t0002g0070 a0003c0002t0002g0122 a0003c0002t0002g0126 a0003c0002t0002g0172 a0003c0002t0002g0184 a0003c0002t0002g0205 a0003c0002t0002g0257 a0003c0002t0003g0127 a0003c0002t0007g0059 a0003c0002t0010g0270 a0003c0002t0014g0066 a0003c0002t0028g0261 a0003c0002t0050g0068 a0003c0009t0001g0279 a0003c0009t0003g0073 a0003c0009t0003g0138 a0003c0009t0003g0178 a0003c0009t0003g0209 a0003c0009t0006g0186 a0003c0009t0046g0219 a0003c0009t0051g0145 a0003c0038t0003g0293 a0003c0038t0005g0307 a0003c0056t0001g0288 a0003c0076t0002g0130 a0003c0077t0005g0312 a0006c0004t0002g0132 a0006c0004t0002g0133 a0006c0004t0003g0190 a0006c0004t0004g0067 a0006c0004t0004g0227 a0006c0004t0005g0206 a0006c0004t0006g0249 a0006c0004t0010g0252 a0006c0004t0011g0269 a0006c0004t0042g0265 a0006c0004t0045g0155 a0006c0012t0001g0090 a0006c0012t0001g0212 a0006c0012t0002g0028 a0006c0012t0002g0060 a0006c0012t0002g0140 a0006c0012t0002g0226 a0006c0012t0010g0198 a0006c0063t0003g0151 a0006c0089t0003g0180 a0007c0003t0002g0037 a0007c0003t0002g0038 a0007c0003t0003g0014 a0007c0003t0003g0229 a0007c0003t0004g0027 a0007c0003t0004g0048 a0007c0003t0004g0170 a0007c0003t0006g0051 a0007c0003t0009g0156 a0007c0003t0009g0260 a0007c0003t0011g0072 a0007c0003t0014g0030 a0007c0003t0016g0029 a0007c0003t0016g0242 a0007c0003t0020g0179 a0007c0003t0033g0035 a0007c0003t0035g0061 a0007c0090t0007g0046 a0011c0010t0005g0097 a0011c0010t0005g0169 a0011c0010t0005g0255 a0011c0010t0005g0258 a0011c0010t0005g0286 a0011c0010t0005g0287 a0011c0010t0037g0181 a0011c0055t0001g0259 a0012c0040t0029g0001 a0012c0040t0040g0055 a0012c0041t0001g0274 a0012c0041t0002g0230 a0012c0065t0007g0182 a0012c0093t0001g0108 a0012c0102t0007g0188 a0012c0105t0024g0217 a0013c0013t0002g0262 a0013c0013t0003g0120 a0013c0013t0003g0207 a0013c0013t0003g0256 a0013c0013t0025g0032 a0013c0013t0025g0033 a0014c0023t0007g0115 a0014c0023t0017g0105 a0014c0023t0036g0104 a0014c0053t0002g0146 a0014c0054t0010g0251 a0018c0079t0004g0314 a0018c0080t0004g0107 a0023c0072t0001g0309 a0024c0073t0019g0231 a0025c0083t0001g0313 a0032c0104t0005g0168 a0033c0101t0001g0308 a0034c0103t0007g0240 a0035c0091t0008g0161 a0038c0068t0044g0272	145	318	0.4560	c.264 others(4): Show c.2649A>G	p.Ile others(6): Show p.Ile883Met	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	18/50	2962/10408	2649/6786	883/2261	chr9	TogoVar
ABCA1_chr9_104776006_104933155	104824519	C C	T T	missense_variant missense_variant	MODERATE	NA19030.hp2 NA19030.hp2	a0035 a0035	a0035c0091 a0035c0091	a0035c0091t0008 a0035c0091t0008	a0035c0091t0008g0161 a0035c0091t0008g0161	1	318	0.0031	c.260 others(4): Show c.2602G>A	p.Glu others(6): Show p.Glu868Lys	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	18/50	2915/10408	2602/6786	868/2261	chr9	TogoVar
ABCA1_chr9_104776006_104933155	104825752	C C	T T	missense_variant missense_variant	MODERATE	HG00408.hp2 HG00558.hp2 HG00609.hp2 others(46): Show HG00408.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG01169.hp1 HG01243.hp1 HG01255.hp1 HG01361.hp2 HG01515.hp2 HG01517.hp1 HG01978.hp2 HG02004.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG03490.hp2 HG03688.hp1 HG03834.hp1 NA18747.hp2 NA18944.hp2 NA18949.hp1 NA18955.hp2 NA18962.hp2 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18970.hp2 NA18978.hp1 NA18979.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18990.hp2 NA18991.hp1 NA19002.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19066.hp1 NA19066.hp2 NA19081.hp2 NA19082.hp2 NA19084.hp2	a0006 a0007 a0013 others(1): Show a0006 a0007 a0013 a0014	a0006c0004 a0006c0012 a0006c0063 others(7): Show a0006c0004 a0006c0012 a0006c0063 a0006c0089 a0007c0003 a0007c0090 a0013c0013 a0014c0023 a0014c0053 a0014c0054	a0006c0004t0002 a0006c0004t0003 a0006c0004t0004 others(31): Show a0006c0004t0002 a0006c0004t0003 a0006c0004t0004 a0006c0004t0005 a0006c0004t0006 a0006c0004t0010 a0006c0004t0011 a0006c0004t0042 a0006c0004t0045 a0006c0012t0001 a0006c0012t0002 a0006c0012t0010 a0006c0063t0003 a0006c0089t0003 a0007c0003t0002 a0007c0003t0003 a0007c0003t0004 a0007c0003t0006 a0007c0003t0009 a0007c0003t0011 a0007c0003t0014 a0007c0003t0016 a0007c0003t0020 a0007c0003t0033 a0007c0003t0035 a0007c0090t0007 a0013c0013t0002 a0013c0013t0003 a0013c0013t0025 a0014c0023t0007 a0014c0023t0017 a0014c0023t0036 a0014c0053t0002 a0014c0054t0010	a0006c0004t0002g0132 a0006c0004t0002g0133 a0006c0004t0003g0190 others(46): Show a0006c0004t0002g0132 a0006c0004t0002g0133 a0006c0004t0003g0190 a0006c0004t0004g0067 a0006c0004t0004g0227 a0006c0004t0005g0206 a0006c0004t0006g0249 a0006c0004t0010g0252 a0006c0004t0011g0269 a0006c0004t0042g0265 a0006c0004t0045g0155 a0006c0012t0001g0090 a0006c0012t0001g0212 a0006c0012t0002g0028 a0006c0012t0002g0060 a0006c0012t0002g0140 a0006c0012t0002g0226 a0006c0012t0010g0198 a0006c0063t0003g0151 a0006c0089t0003g0180 a0007c0003t0002g0037 a0007c0003t0002g0038 a0007c0003t0003g0014 a0007c0003t0003g0229 a0007c0003t0004g0027 a0007c0003t0004g0048 a0007c0003t0004g0170 a0007c0003t0006g0051 a0007c0003t0009g0156 a0007c0003t0009g0260 a0007c0003t0011g0072 a0007c0003t0014g0030 a0007c0003t0016g0029 a0007c0003t0016g0242 a0007c0003t0020g0179 a0007c0003t0033g0035 a0007c0003t0035g0061 a0007c0090t0007g0046 a0013c0013t0002g0262 a0013c0013t0003g0120 a0013c0013t0003g0207 a0013c0013t0003g0256 a0013c0013t0025g0032 a0013c0013t0025g0033 a0014c0023t0007g0115 a0014c0023t0017g0105 a0014c0023t0036g0104 a0014c0053t0002g0146 a0014c0054t0010g0251	49	318	0.1541	c.247 others(4): Show c.2473G>A	p.Val others(6): Show p.Val825Ile	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	17/50	2786/10408	2473/6786	825/2261	chr9	TogoVar
ABCA1_chr9_104776006_104933155	104826957	C C	G G	missense_variant missense_variant	MODERATE	HG04199.hp2 HG04199.hp2	a0036 a0036	a0036c0094 a0036c0094	a0036c0094t0009 a0036c0094t0009	a0036c0094t0009g0079 a0036c0094t0009g0079	1	318	0.0031	c.232 others(4): Show c.2328G>C	p.Lys others(6): Show p.Lys776Asn	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	16/50	2641/10408	2328/6786	776/2261	chr9	TogoVar
ABCA1_chr9_104776006_104933155	104826965	T T	G G	missense_variant missense_variant	MODERATE	HG01993.hp1 HG01993.hp1	a0021 a0021	a0021c0060 a0021c0060	a0021c0060t0001 a0021c0060t0001	a0021c0060t0001g0078 a0021c0060t0001g0078	1	318	0.0031	c.232 others(4): Show c.2320A>C	p.Thr others(6): Show p.Thr774Pro	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	16/50	2633/10408	2320/6786	774/2261	chr9	TogoVar
ABCA1_chr9_104776006_104933155	104826974	C C	T T	missense_variant missense_variant	MODERATE	HG00741.hp2 HG01081.hp2 HG01099.hp2 others(28): Show HG00741.hp2 HG01081.hp2 HG01099.hp2 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01934.hp2 HG01975.hp1 HG01993.hp2 HG02155.hp1 HG02615.hp2 HG02630.hp2 HG02965.hp1 HG02970.hp2 HG03139.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03704.hp2 HG06807.hp1 NA18906.hp1 NA18949.hp2 NA18953.hp2 NA18955.hp1 NA18960.hp1 NA18979.hp2 NA18992.hp2 NA19083.hp2 NA20905.hp2 NA21309.hp2	a0008 a0010 a0017 others(3): Show a0008 a0010 a0017 a0019 a0020 a0027	a0008c0006 a0008c0047 a0008c0048 others(9): Show a0008c0006 a0008c0047 a0008c0048 a0008c0049 a0008c0069 a0010c0007 a0010c0030 a0017c0034 a0019c0086 a0019c0106 a0020c0045 a0027c0062	a0008c0006t0001 a0008c0006t0003 a0008c0006t0005 others(21): Show a0008c0006t0001 a0008c0006t0003 a0008c0006t0005 a0008c0006t0006 a0008c0006t0007 a0008c0006t0012 a0008c0006t0014 a0008c0006t0015 a0008c0006t0022 a0008c0006t0047 a0008c0047t0002 a0008c0048t0030 a0008c0049t0004 a0008c0069t0008 a0010c0007t0002 a0010c0007t0003 a0010c0007t0010 a0010c0030t0001 a0010c0030t0022 a0017c0034t0001 a0019c0086t0003 a0019c0106t0001 a0020c0045t0002 a0027c0062t0001	a0008c0006t0001g0087 a0008c0006t0003g0187 a0008c0006t0005g0063 others(28): Show a0008c0006t0001g0087 a0008c0006t0003g0187 a0008c0006t0005g0063 a0008c0006t0006g0057 a0008c0006t0007g0111 a0008c0006t0012g0081 a0008c0006t0014g0221 a0008c0006t0015g0095 a0008c0006t0022g0135 a0008c0006t0047g0056 a0008c0047t0002g0244 a0008c0048t0030g0022 a0008c0049t0004g0103 a0008c0069t0008g0096 a0010c0007t0002g0012 a0010c0007t0002g0013 a0010c0007t0002g0015 a0010c0007t0002g0125 a0010c0007t0003g0149 a0010c0007t0010g0139 a0010c0007t0010g0185 a0010c0007t0010g0200 a0010c0007t0010g0201 a0010c0030t0001g0053 a0010c0030t0022g0191 a0017c0034t0001g0153 a0017c0034t0001g0300 a0019c0086t0003g0100 a0019c0106t0001g0094 a0020c0045t0002g0299 a0027c0062t0001g0310	31	318	0.0975	c.231 others(4): Show c.2311G>A	p.Val others(6): Show p.Val771Met	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	16/50	2624/10408	2311/6786	771/2261	chr9	TogoVar
ABCA1_chr9_104776006_104933155	104830980	T T	C C	missense_variant missense_variant	MODERATE	HG00408.hp1 HG00408.hp1	a0026 a0026	a0026c0111 a0026c0111	a0026c0111t0002 a0026c0111t0002	a0026c0111t0002g0065 a0026c0111t0002g0065	1	318	0.0031	c.183 others(4): Show c.1837A>G	p.Lys others(6): Show p.Lys613Glu	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	14/50	2150/10408	1837/6786	613/2261	chr9	TogoVar
ABCA1_chr9_104776006_104933155	104837015	A A	G G	missense_variant missense_variant	MODERATE	HG01257.hp1 HG01257.hp1	a0037 a0037	a0037c0088 a0037c0088	a0037c0088t0034 a0037c0088t0034	a0037c0088t0034g0298 a0037c0088t0034g0298	1	318	0.0031	c.127 others(4): Show c.1276T>C	p.Phe others(6): Show p.Phe426Leu	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	11/50	1589/10408	1276/6786	426/2261	chr9	TogoVar
ABCA1_chr9_104776006_104933155	104837555	T T	C C	missense_variant missense_variant	MODERATE	HG03453.hp1 HG03453.hp1	a0025 a0025	a0025c0083 a0025c0083	a0025c0083t0001 a0025c0083t0001	a0025c0083t0001g0313 a0025c0083t0001g0313	1	318	0.0031	c.106 others(4): Show c.1067A>G	p.Asn others(6): Show p.Asn356Ser	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	10/50	1380/10408	1067/6786	356/2261	chr9	TogoVar

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