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
ABCA6_chr17_69073702_69146895	69129699	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(173): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02280.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18612.hp1 NA18940.hp2 NA18942.hp1 NA18945.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18977.hp2 NA18982.hp2 NA18985.hp2 NA18987.hp1 NA18989.hp2 NA18993.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19006.hp2 NA19007.hp1 NA19010.hp2 NA19030.hp2 NA19054.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19075.hp1 NA19078.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(9): Show a0001 a0004 a0005 a0007 a0008 a0009 a0010 a0012 a0013 a0014 a0015 a0025	a0001c0001 a0004c0004 a0005c0005 others(9): Show a0001c0001 a0004c0004 a0005c0005 a0007c0006 a0008c0008 a0009c0011 a0010c0012 a0012c0030 a0013c0016 a0014c0018 a0015c0017 a0025c0015	a0001c0001t0001 a0004c0004t0002 a0005c0005t0001 others(11): Show a0001c0001t0001 a0004c0004t0002 a0005c0005t0001 a0005c0005t0002 a0007c0006t0001 a0007c0006t0002 a0008c0008t0002 a0009c0011t0001 a0010c0012t0002 a0012c0030t0002 a0013c0016t0001 a0014c0018t0002 a0015c0017t0001 a0025c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(147): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0163 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0282 a0004c0004t0002g0006 a0004c0004t0002g0019 a0004c0004t0002g0020 a0004c0004t0002g0032 a0004c0004t0002g0132 a0004c0004t0002g0137 a0004c0004t0002g0138 a0004c0004t0002g0140 a0004c0004t0002g0142 a0004c0004t0002g0143 a0004c0004t0002g0144 a0004c0004t0002g0145 a0004c0004t0002g0146 a0004c0004t0002g0147 a0004c0004t0002g0148 a0004c0004t0002g0149 a0004c0004t0002g0150 a0004c0004t0002g0151 a0004c0004t0002g0152 a0004c0004t0002g0155 a0005c0005t0001g0159 a0005c0005t0001g0160 a0005c0005t0002g0007 a0005c0005t0002g0125 a0005c0005t0002g0126 a0005c0005t0002g0127 a0005c0005t0002g0128 a0005c0005t0002g0129 a0005c0005t0002g0130 a0005c0005t0002g0133 a0005c0005t0002g0134 a0005c0005t0002g0153 a0005c0005t0002g0154 a0005c0005t0002g0156 a0005c0005t0002g0157 a0005c0005t0002g0158 a0005c0005t0002g0162 a0007c0006t0001g0059 a0007c0006t0001g0087 a0007c0006t0001g0088 a0007c0006t0001g0104 a0007c0006t0001g0105 a0007c0006t0002g0034 a0007c0006t0002g0055 a0007c0006t0002g0099 a0007c0006t0002g0110 a0008c0008t0002g0018 a0008c0008t0002g0135 a0008c0008t0002g0136 a0009c0011t0001g0042 a0009c0011t0001g0043 a0010c0012t0002g0139 a0010c0012t0002g0141 a0012c0030t0002g0131 a0013c0016t0001g0161 a0014c0018t0002g0058 a0015c0017t0001g0100 a0025c0015t0001g0046	176	326	0.5399	c.844 others(3): Show c.844G>A	p.Val others(6): Show p.Val282Ile	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	7/39	1040/5321	844/4854	282/1617	chr17	TogoVar
ABCA6_chr17_69073702_69146895	69133710	T T	C C	missense_variant missense_variant	MODERATE	HG02622.hp1 HG02622.hp1	a0024 a0024	a0024c0029 a0024c0029	a0024c0029t0001 a0024c0029t0001	a0024c0029t0001g0243 a0024c0029t0001g0243	1	326	0.0031	c.722 others(3): Show c.722A>G	p.Asn others(6): Show p.Asn241Ser	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	6/39	918/5321	722/4854	241/1617	chr17	TogoVar
ABCA6_chr17_69073702_69146895	69133840	C C	G G	missense_variant missense_variant	MODERATE	NA19066.hp1 NA19066.hp1	a0025 a0025	a0025c0015 a0025c0015	a0025c0015t0001 a0025c0015t0001	a0025c0015t0001g0046 a0025c0015t0001g0046	1	326	0.0031	c.592 others(3): Show c.592G>C	p.Glu others(6): Show p.Glu198Gln	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	6/39	788/5321	592/4854	198/1617	chr17	TogoVar
ABCA6_chr17_69073702_69146895	69134707	T T	C C	missense_variant missense_variant	MODERATE	HG02895.hp2 HG02895.hp2	a0012 a0012	a0012c0030 a0012c0030	a0012c0030t0002 a0012c0030t0002	a0012c0030t0002g0131 a0012c0030t0002g0131	1	326	0.0031	c.496 others(3): Show c.496A>G	p.Thr others(6): Show p.Thr166Ala	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	5/39	692/5321	496/4854	166/1617	chr17	TogoVar
ABCA7_chr19_1035107_1070572	1042810	A A	G G	missense_variant missense_variant	MODERATE	HG00673.hp1 HG01071.hp2 HG02071.hp1 others(7): Show HG00673.hp1 HG01071.hp2 HG02071.hp1 HG02145.hp1 HG03688.hp1 HG03688.hp2 NA18970.hp1 NA18983.hp1 NA19066.hp1 NA20905.hp2	a0004 a0012 a0013 others(6): Show a0004 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019	a0004c0004 a0012c0016 a0013c0013 others(6): Show a0004c0004 a0012c0016 a0013c0013 a0014c0019 a0015c0018 a0016c0014 a0017c0017 a0018c0015 a0019c0012	a0004c0004t0001 a0012c0016t0001 a0013c0013t0002 others(6): Show a0004c0004t0001 a0012c0016t0001 a0013c0013t0002 a0014c0019t0002 a0015c0018t0001 a0016c0014t0002 a0017c0017t0001 a0018c0015t0001 a0019c0012t0001	a0004c0004t0001g0021 a0004c0004t0001g0023 a0012c0016t0001g0024 others(7): Show a0004c0004t0001g0021 a0004c0004t0001g0023 a0012c0016t0001g0024 a0013c0013t0002g0030 a0014c0019t0002g0029 a0015c0018t0001g0028 a0016c0014t0002g0025 a0017c0017t0001g0027 a0018c0015t0001g0022 a0019c0012t0001g0026	10	30	0.3333	c.563 others(3): Show c.563A>G	p.Glu others(6): Show p.Glu188Gly	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	7/47	790/6815	563/6441	188/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1043104	G G	A A	missense_variant missense_variant	MODERATE	HG03688.hp2 HG03688.hp2	a0019 a0019	a0019c0012 a0019c0012	a0019c0012t0001 a0019c0012t0001	a0019c0012t0001g0026 a0019c0012t0001g0026	1	30	0.0333	c.643 others(3): Show c.643G>A	p.Gly others(6): Show p.Gly215Ser	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	8/47	870/6815	643/6441	215/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1043749	A A	G G	missense_variant missense_variant	MODERATE	HG02145.hp2 HG02451.hp1 HG02451.hp2 others(2): Show HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02970.hp1 HG02970.hp2	a0003 a0005 a0006 others(1): Show a0003 a0005 a0006 a0007	a0003c0005 a0005c0022 a0006c0020 others(1): Show a0003c0005 a0005c0022 a0006c0020 a0007c0021	a0003c0005t0002 a0005c0022t0001 a0006c0020t0002 others(1): Show a0003c0005t0002 a0005c0022t0001 a0006c0020t0002 a0007c0021t0001	a0003c0005t0002g0002 a0003c0005t0002g0003 a0005c0022t0001g0004 others(2): Show a0003c0005t0002g0002 a0003c0005t0002g0003 a0005c0022t0001g0004 a0006c0020t0002g0020 a0007c0021t0001g0001	5	30	0.1667	c.955 others(3): Show c.955A>G	p.Thr others(6): Show p.Thr319Ala	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	10/47	1182/6815	955/6441	319/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1044713	A A	G G	missense_variant missense_variant	MODERATE	HG02145.hp2 HG02451.hp1 HG02451.hp2 others(2): Show HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02970.hp1 HG02970.hp2	a0003 a0005 a0006 others(1): Show a0003 a0005 a0006 a0007	a0003c0005 a0005c0022 a0006c0020 others(1): Show a0003c0005 a0005c0022 a0006c0020 a0007c0021	a0003c0005t0002 a0005c0022t0001 a0006c0020t0002 others(1): Show a0003c0005t0002 a0005c0022t0001 a0006c0020t0002 a0007c0021t0001	a0003c0005t0002g0002 a0003c0005t0002g0003 a0005c0022t0001g0004 others(2): Show a0003c0005t0002g0002 a0003c0005t0002g0003 a0005c0022t0001g0004 a0006c0020t0002g0020 a0007c0021t0001g0001	5	30	0.1667	c.118 others(4): Show c.1184A>G	p.His others(6): Show p.His395Arg	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	11/47	1411/6815	1184/6441	395/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1045027	C C	G G	missense_variant missense_variant	MODERATE	HG02145.hp2 HG02451.hp1 HG02970.hp1 HG02145.hp2 HG02451.hp1 HG02970.hp1	a0003 a0007 a0003 a0007	a0003c0005 a0007c0021 a0003c0005 a0007c0021	a0003c0005t0002 a0007c0021t0001 a0003c0005t0002 a0007c0021t0001	a0003c0005t0002g0002 a0003c0005t0002g0003 a0007c0021t0001g0001 a0003c0005t0002g0002 a0003c0005t0002g0003 a0007c0021t0001g0001	3	30	0.1000	c.124 others(4): Show c.1241C>G	p.Ala others(6): Show p.Ala414Gly	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	12/47	1468/6815	1241/6441	414/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1045174	G G	A A	missense_variant missense_variant	MODERATE	NA18983.hp2 NA19079.hp2 NA18983.hp2 NA19079.hp2	a0008 a0009 a0008 a0009	a0008c0006 a0009c0007 a0008c0006 a0009c0007	a0008c0006t0002 a0009c0007t0002 a0008c0006t0002 a0009c0007t0002	a0008c0006t0002g0006 a0009c0007t0002g0005 a0008c0006t0002g0006 a0009c0007t0002g0005	2	30	0.0667	c.138 others(4): Show c.1388G>A	p.Arg others(6): Show p.Arg463His	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	12/47	1615/6815	1388/6441	463/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1046405	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02451.hp2 HG02451.hp2	a0005 a0005	a0005c0022 a0005c0022	a0005c0022t0001 a0005c0022t0001	a0005c0022t0001g0004 a0005c0022t0001g0004	1	30	0.0333	c.162 others(4): Show c.1621G>A	p.Val others(6): Show p.Val541Met	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	13/47	1848/6815	1621/6441	541/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1047538	A A	C C	missense_variant missense_variant	MODERATE	NA18983.hp2 NA19079.hp2 NA18983.hp2 NA19079.hp2	a0008 a0009 a0008 a0009	a0008c0006 a0009c0007 a0008c0006 a0009c0007	a0008c0006t0002 a0009c0007t0002 a0008c0006t0002 a0009c0007t0002	a0008c0006t0002g0006 a0009c0007t0002g0005 a0008c0006t0002g0006 a0009c0007t0002g0005	2	30	0.0667	c.215 others(4): Show c.2153A>C	p.Asn others(6): Show p.Asn718Thr	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	16/47	2380/6815	2153/6441	718/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1049394	A A	C C	missense_variant missense_variant	MODERATE	NA18983.hp1 NA18983.hp1	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0001 a0012c0016t0001	a0012c0016t0001g0024 a0012c0016t0001g0024	1	30	0.0333	c.250 others(4): Show c.2509A>C	p.Thr others(6): Show p.Thr837Pro	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	18/47	2736/6815	2509/6441	837/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1049397	G G	A A	missense_variant missense_variant	MODERATE	NA18970.hp1 NA18970.hp1	a0018 a0018	a0018c0015 a0018c0015	a0018c0015t0001 a0018c0015t0001	a0018c0015t0001g0022 a0018c0015t0001g0022	1	30	0.0333	c.251 others(4): Show c.2512G>A	p.Ala others(6): Show p.Ala838Thr	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	18/47	2739/6815	2512/6441	838/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1050997	G G	A A	missense_variant missense_variant	MODERATE	HG01071.hp2 HG01071.hp2	a0017 a0017	a0017c0017 a0017c0017	a0017c0017t0001 a0017c0017t0001	a0017c0017t0001g0027 a0017c0017t0001g0027	1	30	0.0333	c.262 others(4): Show c.2629G>A	p.Ala others(6): Show p.Ala877Thr	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	19/47	2856/6815	2629/6441	877/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1051487	G G	T T	missense_variant missense_variant	MODERATE	HG02723.hp1 HG02723.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0013 a0010c0010t0001g0013	1	30	0.0333	c.286 others(4): Show c.2863G>T	p.Val others(6): Show p.Val955Leu	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	21/47	3090/6815	2863/6441	955/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1051488	T T	G G	missense_variant missense_variant	MODERATE	HG02723.hp1 HG02723.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0013 a0010c0010t0001g0013	1	30	0.0333	c.286 others(4): Show c.2864T>G	p.Val others(6): Show p.Val955Gly	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	21/47	3091/6815	2864/6441	955/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1055192	G G	A A	missense_variant missense_variant	MODERATE	HG00673.hp1 HG02145.hp1 HG02451.hp1 others(7): Show HG00673.hp1 HG02145.hp1 HG02451.hp1 NA18970.hp1 NA18983.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0004 a0007 others(3): Show a0002 a0004 a0007 a0012 a0013 a0018	a0002c0003 a0002c0009 a0002c0011 others(5): Show a0002c0003 a0002c0009 a0002c0011 a0004c0004 a0007c0021 a0012c0016 a0013c0013 a0018c0015	a0002c0003t0001 a0002c0009t0001 a0002c0011t0001 others(5): Show a0002c0003t0001 a0002c0009t0001 a0002c0011t0001 a0004c0004t0001 a0007c0021t0001 a0012c0016t0001 a0013c0013t0002 a0018c0015t0001	a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0009t0001g0008 others(7): Show a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0009t0001g0008 a0002c0011t0001g0012 a0004c0004t0001g0021 a0004c0004t0001g0023 a0007c0021t0001g0001 a0012c0016t0001g0024 a0013c0013t0002g0030 a0018c0015t0001g0022	10	30	0.3333	c.404 others(4): Show c.4046G>A	p.Arg others(7): Show p.Arg1349Gln	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	30/47	4273/6815	4046/6441	1349/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1056493	G G	C C	missense_variant missense_variant	MODERATE	HG00673.hp1 HG01071.hp2 HG02071.hp1 others(19): Show HG00673.hp1 HG01071.hp2 HG02071.hp1 HG02145.hp1 HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02723.hp1 HG02723.hp2 HG02970.hp1 HG02970.hp2 HG03688.hp1 HG03688.hp2 NA18970.hp1 NA18983.hp1 NA18983.hp2 NA19066.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(14): Show a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019	a0002c0003 a0002c0009 a0002c0011 others(16): Show a0002c0003 a0002c0009 a0002c0011 a0003c0005 a0004c0004 a0005c0022 a0006c0020 a0007c0021 a0008c0006 a0010c0010 a0011c0008 a0012c0016 a0013c0013 a0014c0019 a0015c0018 a0016c0014 a0017c0017 a0018c0015 a0019c0012	a0002c0003t0001 a0002c0009t0001 a0002c0011t0001 others(16): Show a0002c0003t0001 a0002c0009t0001 a0002c0011t0001 a0003c0005t0002 a0004c0004t0001 a0005c0022t0001 a0006c0020t0002 a0007c0021t0001 a0008c0006t0002 a0010c0010t0001 a0011c0008t0002 a0012c0016t0001 a0013c0013t0002 a0014c0019t0002 a0015c0018t0001 a0016c0014t0002 a0017c0017t0001 a0018c0015t0001 a0019c0012t0001	a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0009t0001g0008 others(19): Show a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0009t0001g0008 a0002c0011t0001g0012 a0003c0005t0002g0002 a0003c0005t0002g0003 a0004c0004t0001g0021 a0004c0004t0001g0023 a0005c0022t0001g0004 a0006c0020t0002g0020 a0007c0021t0001g0001 a0008c0006t0002g0006 a0010c0010t0001g0013 a0011c0008t0002g0014 a0012c0016t0001g0024 a0013c0013t0002g0030 a0014c0019t0002g0029 a0015c0018t0001g0028 a0016c0014t0002g0025 a0017c0017t0001g0027 a0018c0015t0001g0022 a0019c0012t0001g0026	22	30	0.7333	c.458 others(4): Show c.4580G>C	p.Gly others(7): Show p.Gly1527Ala	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	33/47	4807/6815	4580/6441	1527/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1058177	A A	G G	missense_variant missense_variant	MODERATE	NA18983.hp2 NA19066.hp1 NA18983.hp2 NA19066.hp1	a0008 a0016 a0008 a0016	a0008c0006 a0016c0014 a0008c0006 a0016c0014	a0008c0006t0002 a0016c0014t0002 a0008c0006t0002 a0016c0014t0002	a0008c0006t0002g0006 a0016c0014t0002g0025 a0008c0006t0002g0006 a0016c0014t0002g0025	2	30	0.0667	c.505 others(4): Show c.5057A>G	p.Gln others(7): Show p.Gln1686Arg	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	37/47	5284/6815	5057/6441	1686/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1058860	G G	A A	missense_variant missense_variant	MODERATE	NA19079.hp2 NA19079.hp2	a0009 a0009	a0009c0007 a0009c0007	a0009c0007t0002 a0009c0007t0002	a0009c0007t0002g0005 a0009c0007t0002g0005	1	30	0.0333	c.532 others(4): Show c.5320G>A	p.Glu others(7): Show p.Glu1774Lys	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	39/47	5547/6815	5320/6441	1774/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1065019	G G	T T	missense_variant missense_variant	MODERATE	HG00673.hp1 HG01071.hp2 HG02145.hp1 others(11): Show HG00673.hp1 HG01071.hp2 HG02145.hp1 HG02451.hp1 HG02451.hp2 HG02723.hp1 HG03688.hp1 HG03688.hp2 NA18970.hp1 NA18983.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0004 a0005 others(7): Show a0002 a0004 a0005 a0007 a0010 a0012 a0015 a0017 a0018 a0019	a0002c0003 a0002c0009 a0002c0011 others(9): Show a0002c0003 a0002c0009 a0002c0011 a0004c0004 a0005c0022 a0007c0021 a0010c0010 a0012c0016 a0015c0018 a0017c0017 a0018c0015 a0019c0012	a0002c0003t0001 a0002c0009t0001 a0002c0011t0001 others(9): Show a0002c0003t0001 a0002c0009t0001 a0002c0011t0001 a0004c0004t0001 a0005c0022t0001 a0007c0021t0001 a0010c0010t0001 a0012c0016t0001 a0015c0018t0001 a0017c0017t0001 a0018c0015t0001 a0019c0012t0001	a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0009t0001g0008 others(11): Show a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0009t0001g0008 a0002c0011t0001g0012 a0004c0004t0001g0021 a0004c0004t0001g0023 a0005c0022t0001g0004 a0007c0021t0001g0001 a0010c0010t0001g0013 a0012c0016t0001g0024 a0015c0018t0001g0028 a0017c0017t0001g0027 a0018c0015t0001g0022 a0019c0012t0001g0026	14	30	0.4667	c.613 others(4): Show c.6133G>T	p.Ala others(7): Show p.Ala2045Ser	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	46/47	6360/6815	6133/6441	2045/2146	chr19	TogoVar
ABCA8_chr17_68862289_68960392	68868095	T T	G G	missense_variant missense_variant	MODERATE	NA18971.hp1 NA18971.hp1	a0023 a0023	a0023c0047 a0023c0047	a0023c0047t0001 a0023c0047t0001	a0023c0047t0001g0010 a0023c0047t0001g0010	1	274	0.0037	c.485 others(4): Show c.4856A>C	p.Glu others(7): Show p.Glu1619Ala	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	40/40	5196/6002	4856/4866	1619/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68868097	C C	G G	missense_variant missense_variant	MODERATE	HG02970.hp2 HG02970.hp2	a0017 a0017	a0017c0024 a0017c0024	a0017c0024t0001 a0017c0024t0001	a0017c0024t0001g0022 a0017c0024t0001g0022	1	274	0.0037	c.485 others(4): Show c.4854G>C	p.Gln others(7): Show p.Gln1618His	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	40/40	5194/6002	4854/4866	1618/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68875343	C C	G G	missense_variant missense_variant	MODERATE	HG02647.hp1 HG02647.hp1	a0029 a0029	a0029c0028 a0029c0028	a0029c0028t0001 a0029c0028t0001	a0029c0028t0001g0113 a0029c0028t0001g0113	1	274	0.0037	c.454 others(4): Show c.4548G>C	p.Glu others(7): Show p.Glu1516Asp	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	37/40	4888/6002	4548/4866	1516/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68875696	C C	T T	missense_variant missense_variant	MODERATE	HG01069.hp1 HG01071.hp2 HG01106.hp1 others(20): Show HG01069.hp1 HG01071.hp2 HG01106.hp1 HG01884.hp1 HG02040.hp2 HG02071.hp2 HG02109.hp1 HG02451.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02809.hp2 HG02922.hp1 HG02976.hp2 HG03225.hp2 HG03579.hp2 NA18960.hp2 NA18980.hp1 NA18991.hp1 NA19010.hp2 NA19030.hp1 NA19081.hp2 NA21309.hp1	a0002 a0005 a0012 others(3): Show a0002 a0005 a0012 a0014 a0018 a0026	a0002c0006 a0002c0022 a0002c0034 others(7): Show a0002c0006 a0002c0022 a0002c0034 a0002c0046 a0002c0053 a0005c0009 a0012c0055 a0014c0057 a0018c0051 a0026c0043	a0002c0006t0001 a0002c0022t0001 a0002c0034t0001 others(7): Show a0002c0006t0001 a0002c0022t0001 a0002c0034t0001 a0002c0046t0001 a0002c0053t0001 a0005c0009t0001 a0012c0055t0001 a0014c0057t0004 a0018c0051t0004 a0026c0043t0001	a0002c0006t0001g0001 a0002c0006t0001g0094 a0002c0006t0001g0161 others(19): Show a0002c0006t0001g0001 a0002c0006t0001g0094 a0002c0006t0001g0161 a0002c0006t0001g0165 a0002c0006t0001g0166 a0002c0006t0001g0201 a0002c0006t0001g0202 a0002c0006t0001g0240 a0002c0022t0001g0136 a0002c0034t0001g0006 a0002c0046t0001g0051 a0002c0053t0001g0049 a0005c0009t0001g0106 a0005c0009t0001g0108 a0005c0009t0001g0109 a0005c0009t0001g0111 a0005c0009t0001g0112 a0005c0009t0001g0116 a0012c0055t0001g0131 a0014c0057t0004g0133 a0018c0051t0004g0122 a0026c0043t0001g0261	23	274	0.0839	c.440 others(4): Show c.4408G>A	p.Gly others(7): Show p.Gly1470Ser	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	36/40	4748/6002	4408/4866	1470/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68877568	C C	T T	missense_variant missense_variant	MODERATE	HG02145.hp2 NA20129.hp2 HG02145.hp2 NA20129.hp2	a0024 a0031 a0024 a0031	a0024c0021 a0031c0027 a0024c0021 a0031c0027	a0024c0021t0001 a0031c0027t0001 a0024c0021t0001 a0031c0027t0001	a0024c0021t0001g0139 a0031c0027t0001g0107 a0024c0021t0001g0139 a0031c0027t0001g0107	2	274	0.0073	c.415 others(4): Show c.4150G>A	p.Ala others(7): Show p.Ala1384Thr	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	33/40	4490/6002	4150/4866	1384/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68883824	C C	T T	missense_variant missense_variant	MODERATE	NA18906.hp1 NA18906.hp1	a0022 a0022	a0022c0020 a0022c0020	a0022c0020t0001 a0022c0020t0001	a0022c0020t0001g0145 a0022c0020t0001g0145	1	274	0.0037	c.367 others(4): Show c.3674G>A	p.Gly others(7): Show p.Gly1225Glu	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	29/40	4014/6002	3674/4866	1225/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68885315	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02809.hp1 HG02809.hp1	a0013 a0013	a0013c0056 a0013c0056	a0013c0056t0001 a0013c0056t0001	a0013c0056t0001g0135 a0013c0056t0001g0135	1	274	0.0037	c.343 others(4): Show c.3430G>A	p.Val others(7): Show p.Val1144Ile	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	27/40	3770/6002	3430/4866	1144/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68887031	A A	C C	missense_variant missense_variant	MODERATE	HG02109.hp2 HG02109.hp2	a0025 a0025	a0025c0045 a0025c0045	a0025c0045t0001 a0025c0045t0001	a0025c0045t0001g0273 a0025c0045t0001g0273	1	274	0.0037	c.341 others(4): Show c.3415T>G	p.Phe others(7): Show p.Phe1139Val	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	26/40	3755/6002	3415/4866	1139/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68894198	C C	T T	missense_variant missense_variant	MODERATE	HG02572.hp1 HG02572.hp1	a0012 a0012	a0012c0055 a0012c0055	a0012c0055t0001 a0012c0055t0001	a0012c0055t0001g0131 a0012c0055t0001g0131	1	274	0.0037	c.301 others(4): Show c.3011G>A	p.Arg others(7): Show p.Arg1004Gln	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	23/40	3351/6002	3011/4866	1004/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68894282	G G	T T	missense_variant missense_variant	MODERATE	NA18980.hp1 NA18980.hp1	a0026 a0026	a0026c0043 a0026c0043	a0026c0043t0001 a0026c0043t0001	a0026c0043t0001g0261 a0026c0043t0001g0261	1	274	0.0037	c.292 others(4): Show c.2927C>A	p.Ala others(6): Show p.Ala976Asp	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	23/40	3267/6002	2927/4866	976/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68894921	G G	C C	missense_variant missense_variant	MODERATE	NA18960.hp1 NA18960.hp1	a0021 a0021	a0021c0036 a0021c0036	a0021c0036t0001 a0021c0036t0001	a0021c0036t0001g0158 a0021c0036t0001g0158	1	274	0.0037	c.285 others(4): Show c.2857C>G	p.Pro others(6): Show p.Pro953Ala	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	22/40	3197/6002	2857/4866	953/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68903330	T T	G G	missense_variant missense_variant	MODERATE	NA19043.hp1 NA19043.hp1	a0020 a0020	a0020c0049 a0020c0049	a0020c0049t0001 a0020c0049t0001	a0020c0049t0001g0093 a0020c0049t0001g0093	1	274	0.0037	c.256 others(4): Show c.2568A>C	p.Leu others(6): Show p.Leu856Phe	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	20/40	2908/6002	2568/4866	856/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68907761	C C	G G	missense_variant missense_variant	MODERATE	NA18969.hp2 NA18982.hp1 NA18969.hp2 NA18982.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0001 a0011c0013t0001	a0011c0013t0001g0032 a0011c0013t0001g0092 a0011c0013t0001g0032 a0011c0013t0001g0092	2	274	0.0073	c.225 others(4): Show c.2257G>C	p.Glu others(6): Show p.Glu753Gln	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	18/40	2597/6002	2257/4866	753/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68907857	C C	T T	missense_variant missense_variant	MODERATE	NA19091.hp2 NA19091.hp2	a0019 a0019	a0019c0041 a0019c0041	a0019c0041t0001 a0019c0041t0001	a0019c0041t0001g0009 a0019c0041t0001g0009	1	274	0.0037	c.216 others(4): Show c.2161G>A	p.Val others(6): Show p.Val721Ile	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	18/40	2501/6002	2161/4866	721/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68907860	A A	C C	missense_variant missense_variant	MODERATE	HG02129.hp1 HG02129.hp2 HG02135.hp1 others(6): Show HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02165.hp2 NA18952.hp2 NA18959.hp1 NA18965.hp2 NA19056.hp2 NA19065.hp1	a0003 a0003	a0003c0007 a0003c0033 a0003c0007 a0003c0033	a0003c0007t0001 a0003c0033t0001 a0003c0007t0001 a0003c0033t0001	a0003c0007t0001g0059 a0003c0007t0001g0163 a0003c0007t0001g0189 others(6): Show a0003c0007t0001g0059 a0003c0007t0001g0163 a0003c0007t0001g0189 a0003c0007t0001g0252 a0003c0007t0001g0257 a0003c0007t0001g0263 a0003c0007t0001g0266 a0003c0007t0001g0267 a0003c0033t0001g0056	9	274	0.0329	c.215 others(4): Show c.2158T>G	p.Cys others(6): Show p.Cys720Gly	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	18/40	2498/6002	2158/4866	720/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68918079	G G	C C	missense_variant missense_variant	MODERATE	HG02976.hp2 HG02976.hp2	a0018 a0018	a0018c0051 a0018c0051	a0018c0051t0004 a0018c0051t0004	a0018c0051t0004g0122 a0018c0051t0004g0122	1	274	0.0037	c.201 others(4): Show c.2015C>G	p.Thr others(6): Show p.Thr672Ser	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	16/40	2355/6002	2015/4866	672/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68924734	G G	A A	missense_variant missense_variant	MODERATE	NA18973.hp2 NA18973.hp2	a0027 a0027	a0027c0037 a0027c0037	a0027c0037t0001 a0027c0037t0001	a0027c0037t0001g0159 a0027c0037t0001g0159	1	274	0.0037	c.140 others(4): Show c.1409C>T	p.Ala others(6): Show p.Ala470Val	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	11/40	1749/6002	1409/4866	470/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68927933	A A	G G	missense_variant missense_variant	MODERATE	HG00733.hp2 HG02622.hp1 HG02896.hp1 others(3): Show HG00733.hp2 HG02622.hp1 HG02896.hp1 HG02970.hp1 HG03130.hp1 HG03516.hp1	a0008 a0009 a0008 a0009	a0008c0019 a0008c0039 a0008c0040 others(3): Show a0008c0019 a0008c0039 a0008c0040 a0009c0025 a0009c0031 a0009c0032	a0008c0019t0001 a0008c0039t0001 a0008c0040t0001 others(3): Show a0008c0019t0001 a0008c0039t0001 a0008c0040t0001 a0009c0025t0001 a0009c0031t0001 a0009c0032t0005	a0008c0019t0001g0156 a0008c0039t0001g0154 a0008c0040t0001g0121 others(3): Show a0008c0019t0001g0156 a0008c0039t0001g0154 a0008c0040t0001g0121 a0009c0025t0001g0102 a0009c0031t0001g0096 a0009c0032t0005g0095	6	274	0.0219	c.125 others(4): Show c.1256T>C	p.Phe others(6): Show p.Phe419Ser	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	10/40	1596/6002	1256/4866	419/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68927942	G G	A A	missense_variant missense_variant	MODERATE	HG00323.hp2 HG01346.hp2 HG03491.hp2 others(1): Show HG00323.hp2 HG01346.hp2 HG03491.hp2 NA20805.hp1	a0006 a0006	a0006c0014 a0006c0038 a0006c0052 a0006c0014 a0006c0038 a0006c0052	a0006c0014t0001 a0006c0038t0001 a0006c0052t0001 a0006c0014t0001 a0006c0038t0001 a0006c0052t0001	a0006c0014t0001g0054 a0006c0014t0001g0084 a0006c0038t0001g0098 others(1): Show a0006c0014t0001g0054 a0006c0014t0001g0084 a0006c0038t0001g0098 a0006c0052t0001g0204	4	274	0.0146	c.124 others(4): Show c.1247C>T	p.Ala others(6): Show p.Ala416Val	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	10/40	1587/6002	1247/4866	416/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68932304	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp1	a0028 a0028	a0028c0054 a0028c0054	a0028c0054t0001 a0028c0054t0001	a0028c0054t0001g0223 a0028c0054t0001g0223	1	274	0.0037	c.781 others(3): Show c.781C>T	p.Arg others(6): Show p.Arg261Trp	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	7/40	1121/6002	781/4866	261/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68932319	T T	C C	missense_variant missense_variant	MODERATE	HG01346.hp1 HG01884.hp1 HG02055.hp1 others(18): Show HG01346.hp1 HG01884.hp1 HG02055.hp1 HG02145.hp2 HG02258.hp1 HG02451.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02809.hp2 HG02818.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp2 HG06807.hp2 NA18522.hp1	a0004 a0005 a0009 others(3): Show a0004 a0005 a0009 a0029 a0030 a0031	a0004c0008 a0004c0026 a0004c0029 others(7): Show a0004c0008 a0004c0026 a0004c0029 a0005c0009 a0009c0025 a0009c0031 a0009c0032 a0029c0028 a0030c0030 a0031c0027	a0004c0008t0001 a0004c0008t0005 a0004c0026t0001 others(8): Show a0004c0008t0001 a0004c0008t0005 a0004c0026t0001 a0004c0029t0001 a0005c0009t0001 a0009c0025t0001 a0009c0031t0001 a0009c0032t0005 a0029c0028t0001 a0030c0030t0001 a0031c0027t0001	a0004c0008t0001g0104 a0004c0008t0001g0110 a0004c0008t0001g0115 others(18): Show a0004c0008t0001g0104 a0004c0008t0001g0110 a0004c0008t0001g0115 a0004c0008t0001g0125 a0004c0008t0001g0126 a0004c0008t0001g0153 a0004c0008t0005g0152 a0004c0026t0001g0114 a0004c0029t0001g0105 a0005c0009t0001g0106 a0005c0009t0001g0108 a0005c0009t0001g0109 a0005c0009t0001g0111 a0005c0009t0001g0112 a0005c0009t0001g0116 a0009c0025t0001g0102 a0009c0031t0001g0096 a0009c0032t0005g0095 a0029c0028t0001g0113 a0030c0030t0001g0103 a0031c0027t0001g0107	21	274	0.0766	c.766 others(3): Show c.766A>G	p.Thr others(6): Show p.Thr256Ala	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	7/40	1106/6002	766/4866	256/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68932327	G G	C C	missense_variant missense_variant	MODERATE	HG01346.hp1 HG01884.hp1 HG02055.hp1 others(18): Show HG01346.hp1 HG01884.hp1 HG02055.hp1 HG02145.hp2 HG02258.hp1 HG02451.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02809.hp2 HG02818.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp2 HG06807.hp2 NA18522.hp1	a0004 a0005 a0009 others(3): Show a0004 a0005 a0009 a0029 a0030 a0031	a0004c0008 a0004c0026 a0004c0029 others(7): Show a0004c0008 a0004c0026 a0004c0029 a0005c0009 a0009c0025 a0009c0031 a0009c0032 a0029c0028 a0030c0030 a0031c0027	a0004c0008t0001 a0004c0008t0005 a0004c0026t0001 others(8): Show a0004c0008t0001 a0004c0008t0005 a0004c0026t0001 a0004c0029t0001 a0005c0009t0001 a0009c0025t0001 a0009c0031t0001 a0009c0032t0005 a0029c0028t0001 a0030c0030t0001 a0031c0027t0001	a0004c0008t0001g0104 a0004c0008t0001g0110 a0004c0008t0001g0115 others(18): Show a0004c0008t0001g0104 a0004c0008t0001g0110 a0004c0008t0001g0115 a0004c0008t0001g0125 a0004c0008t0001g0126 a0004c0008t0001g0153 a0004c0008t0005g0152 a0004c0026t0001g0114 a0004c0029t0001g0105 a0005c0009t0001g0106 a0005c0009t0001g0108 a0005c0009t0001g0109 a0005c0009t0001g0111 a0005c0009t0001g0112 a0005c0009t0001g0116 a0009c0025t0001g0102 a0009c0031t0001g0096 a0009c0032t0005g0095 a0029c0028t0001g0113 a0030c0030t0001g0103 a0031c0027t0001g0107	21	274	0.0766	c.758 others(3): Show c.758C>G	p.Ala others(6): Show p.Ala253Gly	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	7/40	1098/6002	758/4866	253/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68932332	C C	T T	missense_variant missense_variant	MODERATE	HG02559.hp2 HG02965.hp2 HG02970.hp2 HG02559.hp2 HG02965.hp2 HG02970.hp2	a0010 a0017 a0010 a0017	a0010c0012 a0017c0024 a0010c0012 a0017c0024	a0010c0012t0001 a0017c0024t0001 a0010c0012t0001 a0017c0024t0001	a0010c0012t0001g0030 a0010c0012t0001g0031 a0017c0024t0001g0022 a0010c0012t0001g0030 a0010c0012t0001g0031 a0017c0024t0001g0022	3	274	0.0110	c.753 others(3): Show c.753G>A	p.Met others(6): Show p.Met251Ile	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	7/40	1093/6002	753/4866	251/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68933226	A A	T T	missense_variant missense_variant	MODERATE	NA18968.hp1 NA18968.hp1	a0016 a0016	a0016c0018 a0016c0018	a0016c0018t0001 a0016c0018t0001	a0016c0018t0001g0235 a0016c0018t0001g0235	1	274	0.0037	c.512 others(3): Show c.512T>A	p.Val others(6): Show p.Val171Glu	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	6/40	852/6002	512/4866	171/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68940889	G G	T T	missense_variant missense_variant	MODERATE	NA18946.hp2 NA18946.hp2	a0032 a0032	a0032c0016 a0032c0016	a0032c0016t0001 a0032c0016t0001	a0032c0016t0001g0062 a0032c0016t0001g0062	1	274	0.0037	c.170 others(3): Show c.170C>A	p.Ser others(5): Show p.Ser57Tyr	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	4/40	510/6002	170/4866	57/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68941957	C C	T T	missense_variant missense_variant	MODERATE	HG02486.hp1 HG02486.hp1	a0015 a0015	a0015c0015 a0015c0015	a0015c0015t0001 a0015c0015t0001	a0015c0015t0001g0012 a0015c0015t0001g0012	1	274	0.0037	c.78G others(2): Show c.78G>A	p.Met others(5): Show p.Met26Ile	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	3/40	418/6002	78/4866	26/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68942000	G G	C C	missense_variant missense_variant	MODERATE	HG02572.hp1 HG02622.hp2 HG02809.hp1 others(3): Show HG02572.hp1 HG02622.hp2 HG02809.hp1 HG02965.hp1 HG03139.hp1 HG03225.hp1	a0007 a0012 a0013 others(1): Show a0007 a0012 a0013 a0014	a0007c0010 a0012c0055 a0013c0056 others(1): Show a0007c0010 a0012c0055 a0013c0056 a0014c0057	a0007c0010t0001 a0012c0055t0001 a0013c0056t0001 others(1): Show a0007c0010t0001 a0012c0055t0001 a0013c0056t0001 a0014c0057t0004	a0007c0010t0001g0123 a0007c0010t0001g0132 a0007c0010t0001g0134 others(3): Show a0007c0010t0001g0123 a0007c0010t0001g0132 a0007c0010t0001g0134 a0012c0055t0001g0131 a0013c0056t0001g0135 a0014c0057t0004g0133	6	274	0.0219	c.35C others(2): Show c.35C>G	p.Thr others(5): Show p.Thr12Ser	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	3/40	375/6002	35/4866	12/1621	chr17	TogoVar
ABCA9_chr17_68969488_69065927	68986306	C C	T T	missense_variant missense_variant	MODERATE	HG01109.hp2 HG01346.hp1 HG02145.hp1 others(18): Show HG01109.hp2 HG01346.hp1 HG02145.hp1 HG02451.hp2 HG02559.hp2 HG02630.hp1 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp2 HG06807.hp2 NA20300.hp2	a0004 a0012 a0016 others(1): Show a0004 a0012 a0016 a0022	a0004c0005 a0012c0014 a0016c0017 others(1): Show a0004c0005 a0012c0014 a0016c0017 a0022c0018	a0004c0005t0003 a0012c0014t0003 a0016c0017t0003 others(1): Show a0004c0005t0003 a0012c0014t0003 a0016c0017t0003 a0022c0018t0014	a0004c0005t0003g0001 a0004c0005t0003g0268 a0004c0005t0003g0269 others(14): Show a0004c0005t0003g0001 a0004c0005t0003g0268 a0004c0005t0003g0269 a0004c0005t0003g0270 a0004c0005t0003g0271 a0004c0005t0003g0272 a0004c0005t0003g0274 a0004c0005t0003g0285 a0004c0005t0003g0286 a0004c0005t0003g0287 a0004c0005t0003g0288 a0004c0005t0003g0289 a0004c0005t0003g0290 a0004c0005t0003g0291 a0012c0014t0003g0048 a0016c0017t0003g0189 a0022c0018t0014g0298	21	312	0.0673	c.406 others(4): Show c.4066G>A	p.Gly others(7): Show p.Gly1356Ser	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	32/39	4141/6377	4066/4875	1356/1624	chr17	TogoVar

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