Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
ABCD2_chr12_39545033_39624803	39554083	G G	A A	synonymous_variant synonymous_variant	LOW	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0006 a0001c0008t0006	a0001c0008t0006g0058 a0001c0008t0006g0058	1	340	0.0029	c.205 others(4): Show c.2052C>T	p.Arg others(6): Show p.Arg684Arg	ABCD2	ENSG00000173208.4	transcript	ENST00000308666.4	protein_coding	10/10	2240/6290	2052/2223	684/740	chr12	TogoVar
ABCD2_chr12_39545033_39624803	39586261	G G	T T	synonymous_variant synonymous_variant	LOW	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0024 a0001c0006t0024	a0001c0006t0024g0030 a0001c0006t0024g0030	1	340	0.0029	c.168 others(4): Show c.1683C>A	p.Val others(6): Show p.Val561Val	ABCD2	ENSG00000173208.4	transcript	ENST00000308666.4	protein_coding	7/10	1871/6290	1683/2223	561/740	chr12	TogoVar
ABCD2_chr12_39545033_39624803	39617061	C C	T T	synonymous_variant synonymous_variant	LOW	HG00738.hp2 HG01106.hp1 HG04199.hp2 HG00738.hp2 HG01106.hp1 HG04199.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0026 a0001c0003t0001 a0001c0003t0026	a0001c0003t0001g0208 a0001c0003t0001g0209 a0001c0003t0026g0210 a0001c0003t0001g0208 a0001c0003t0001g0209 a0001c0003t0026g0210	3	340	0.0088	c.104 others(4): Show c.1047G>A	p.Lys others(6): Show p.Lys349Lys	ABCD2	ENSG00000173208.4	transcript	ENST00000308666.4	protein_coding	2/10	1235/6290	1047/2223	349/740	chr12	TogoVar
ABCD2_chr12_39545033_39624803	39619351	G G	A A	synonymous_variant synonymous_variant	LOW	HG03516.hp2 HG03516.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0011 a0003c0009t0011	a0003c0009t0011g0285 a0003c0009t0011g0285	1	340	0.0029	c.265 others(3): Show c.265C>T	p.Leu others(5): Show p.Leu89Leu	ABCD2	ENSG00000173208.4	transcript	ENST00000308666.4	protein_coding	1/10	453/6290	265/2223	89/740	chr12	TogoVar
ABCD3_chr1_94413389_94523663	94464789	G G	A A	synonymous_variant synonymous_variant	LOW	HG00323.hp2 HG00438.hp2 HG00544.hp2 others(75): Show HG00323.hp2 HG00438.hp2 HG00544.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG00741.hp2 HG01106.hp1 HG01109.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02056.hp2 HG02074.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02300.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02895.hp1 HG02897.hp1 HG03490.hp1 HG03491.hp1 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04204.hp1 NA18747.hp2 NA18940.hp2 NA18944.hp1 NA18946.hp1 NA18948.hp1 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18967.hp2 NA18970.hp1 NA18971.hp2 NA18986.hp2 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18995.hp2 NA19007.hp1 NA19012.hp2 NA19054.hp2 NA19056.hp1 NA19062.hp2 NA19064.hp1 NA19076.hp2 NA19082.hp2 NA19089.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0026 a0001c0002t0001 a0001c0002t0002 a0001c0002t0026	a0001c0002t0001g0097 a0001c0002t0001g0130 a0001c0002t0002g0001 others(72): Show a0001c0002t0001g0097 a0001c0002t0001g0130 a0001c0002t0002g0001 a0001c0002t0002g0013 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0026g0134	78	362	0.2155	c.162 others(3): Show c.162G>A	p.Lys others(5): Show p.Lys54Lys	ABCD3	ENSG00000117528.14	transcript	ENST00000370214.9	protein_coding	3/23	252/3604	162/1980	54/659	chr1	TogoVar
ABCD3_chr1_94413389_94523663	94475665	A A	G G	synonymous_variant synonymous_variant	LOW	NA18964.hp2 NA18982.hp2 NA19064.hp2 NA18964.hp2 NA18982.hp2 NA19064.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0072 a0001c0003t0001g0076 a0001c0003t0001g0078 a0001c0003t0001g0072 a0001c0003t0001g0076 a0001c0003t0001g0078	3	362	0.0083	c.555 others(3): Show c.555A>G	p.Pro others(6): Show p.Pro185Pro	ABCD3	ENSG00000117528.14	transcript	ENST00000370214.9	protein_coding	7/23	645/3604	555/1980	185/659	chr1	TogoVar
ABCD3_chr1_94413389_94523663	94491217	A A	G G	synonymous_variant synonymous_variant	LOW	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0016 a0001c0004t0016	a0001c0004t0016g0017 a0001c0004t0016g0017	1	362	0.0028	c.135 others(4): Show c.1356A>G	p.Gly others(6): Show p.Gly452Gly	ABCD3	ENSG00000117528.14	transcript	ENST00000370214.9	protein_coding	16/23	1446/3604	1356/1980	452/659	chr1	TogoVar
ABCD4_chr14_74280269_74307934	74288233	G G	A A	synonymous_variant synonymous_variant	LOW	HG01081.hp2 HG01109.hp2 HG01243.hp2 others(24): Show HG01081.hp2 HG01109.hp2 HG01243.hp2 HG01884.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02897.hp1 HG02970.hp1 HG03041.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp2 NA21309.hp2	a0003 a0004 a0007 a0003 a0004 a0007	a0003c0003 a0004c0005 a0007c0007 a0003c0003 a0004c0005 a0007c0007	a0003c0003t0005 a0003c0003t0008 a0003c0003t0009 others(11): Show a0003c0003t0005 a0003c0003t0008 a0003c0003t0009 a0003c0003t0011 a0003c0003t0013 a0003c0003t0014 a0003c0003t0015 a0003c0003t0016 a0003c0003t0017 a0003c0003t0018 a0003c0003t0019 a0004c0005t0005 a0007c0007t0011 a0007c0007t0023	a0003c0003t0005g0020 a0003c0003t0005g0131 a0003c0003t0005g0132 others(18): Show a0003c0003t0005g0020 a0003c0003t0005g0131 a0003c0003t0005g0132 a0003c0003t0008g0103 a0003c0003t0008g0125 a0003c0003t0008g0127 a0003c0003t0008g0134 a0003c0003t0009g0033 a0003c0003t0009g0098 a0003c0003t0009g0099 a0003c0003t0011g0156 a0003c0003t0013g0136 a0003c0003t0014g0126 a0003c0003t0015g0133 a0003c0003t0016g0100 a0003c0003t0017g0123 a0003c0003t0018g0124 a0003c0003t0019g0128 a0004c0005t0005g0011 a0007c0007t0011g0049 a0007c0007t0023g0048	27	384	0.0703	c.153 others(4): Show c.1533C>T	p.Gly others(6): Show p.Gly511Gly	ABCD4	ENSG00000119688.21	transcript	ENST00000356924.9	protein_coding	16/19	1555/3035	1533/1821	511/606	chr14	TogoVar
ABCD4_chr14_74280269_74307934	74290313	A A	T T	synonymous_variant synonymous_variant	LOW	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0112 a0001c0017t0002g0112	1	384	0.0026	c.130 others(4): Show c.1305T>A	p.Gly others(6): Show p.Gly435Gly	ABCD4	ENSG00000119688.21	transcript	ENST00000356924.9	protein_coding	12/19	1327/3035	1305/1821	435/606	chr14	TogoVar
ABCD4_chr14_74280269_74307934	74290316	C C	T T	synonymous_variant synonymous_variant	LOW	HG01081.hp2 HG01109.hp2 HG01243.hp2 others(24): Show HG01081.hp2 HG01109.hp2 HG01243.hp2 HG01884.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02897.hp1 HG02970.hp1 HG03041.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp2 NA21309.hp2	a0003 a0004 a0007 a0003 a0004 a0007	a0003c0003 a0004c0005 a0007c0007 a0003c0003 a0004c0005 a0007c0007	a0003c0003t0005 a0003c0003t0008 a0003c0003t0009 others(11): Show a0003c0003t0005 a0003c0003t0008 a0003c0003t0009 a0003c0003t0011 a0003c0003t0013 a0003c0003t0014 a0003c0003t0015 a0003c0003t0016 a0003c0003t0017 a0003c0003t0018 a0003c0003t0019 a0004c0005t0005 a0007c0007t0011 a0007c0007t0023	a0003c0003t0005g0020 a0003c0003t0005g0131 a0003c0003t0005g0132 others(18): Show a0003c0003t0005g0020 a0003c0003t0005g0131 a0003c0003t0005g0132 a0003c0003t0008g0103 a0003c0003t0008g0125 a0003c0003t0008g0127 a0003c0003t0008g0134 a0003c0003t0009g0033 a0003c0003t0009g0098 a0003c0003t0009g0099 a0003c0003t0011g0156 a0003c0003t0013g0136 a0003c0003t0014g0126 a0003c0003t0015g0133 a0003c0003t0016g0100 a0003c0003t0017g0123 a0003c0003t0018g0124 a0003c0003t0019g0128 a0004c0005t0005g0011 a0007c0007t0011g0049 a0007c0007t0023g0048	27	384	0.0703	c.130 others(4): Show c.1302G>A	p.Leu others(6): Show p.Leu434Leu	ABCD4	ENSG00000119688.21	transcript	ENST00000356924.9	protein_coding	12/19	1324/3035	1302/1821	434/606	chr14	TogoVar
ABCD4_chr14_74280269_74307934	74292556	C C	T T	synonymous_variant synonymous_variant	LOW	HG02155.hp1 HG03098.hp1 HG03130.hp1 others(2): Show HG02155.hp1 HG03098.hp1 HG03130.hp1 HG03486.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0012 a0001c0004 a0002c0012	a0001c0004t0001 a0002c0012t0001 a0001c0004t0001 a0002c0012t0001	a0001c0004t0001g0090 a0001c0004t0001g0091 a0001c0004t0001g0092 others(2): Show a0001c0004t0001g0090 a0001c0004t0001g0091 a0001c0004t0001g0092 a0001c0004t0001g0093 a0002c0012t0001g0068	5	384	0.0130	c.102 others(4): Show c.1023G>A	p.Thr others(6): Show p.Thr341Thr	ABCD4	ENSG00000119688.21	transcript	ENST00000356924.9	protein_coding	10/19	1045/3035	1023/1821	341/606	chr14	TogoVar
ABCD4_chr14_74280269_74307934	74292595	G G	A A	synonymous_variant synonymous_variant	LOW	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0002 a0001c0020t0002	a0001c0020t0002g0118 a0001c0020t0002g0118	1	384	0.0026	c.984 others(3): Show c.984C>T	p.Ile others(6): Show p.Ile328Ile	ABCD4	ENSG00000119688.21	transcript	ENST00000356924.9	protein_coding	10/19	1006/3035	984/1821	328/606	chr14	TogoVar
ABCD4_chr14_74280269_74307934	74292598	G G	T T	synonymous_variant synonymous_variant	LOW	HG00140.hp1 HG00280.hp2 HG00323.hp2 others(100): Show HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00621.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01257.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02280.hp1 HG02615.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG03209.hp1 HG03490.hp1 HG03654.hp1 HG03831.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18943.hp1 NA18946.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18982.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA19000.hp1 NA19001.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19055.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19078.hp2 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0010 a0011 a0002 a0010 a0011	a0002c0002 a0002c0012 a0010c0014 others(1): Show a0002c0002 a0002c0012 a0010c0014 a0011c0013	a0002c0002t0001 a0002c0002t0024 a0002c0012t0001 others(2): Show a0002c0002t0001 a0002c0002t0024 a0002c0012t0001 a0010c0014t0001 a0011c0013t0001	a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0013 others(52): Show a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0206 a0002c0002t0024g0060 a0002c0012t0001g0068 a0010c0014t0001g0065 a0011c0013t0001g0061	103	384	0.2682	c.981 others(3): Show c.981C>A	p.Leu others(6): Show p.Leu327Leu	ABCD4	ENSG00000119688.21	transcript	ENST00000356924.9	protein_coding	10/19	1003/3035	981/1821	327/606	chr14	TogoVar
ABCD4_chr14_74280269_74307934	74292826	G G	A A	synonymous_variant synonymous_variant	LOW	HG01081.hp2 HG01109.hp2 HG01243.hp2 others(24): Show HG01081.hp2 HG01109.hp2 HG01243.hp2 HG01884.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02897.hp1 HG02970.hp1 HG03041.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp2 NA21309.hp2	a0003 a0004 a0007 a0003 a0004 a0007	a0003c0003 a0004c0005 a0007c0007 a0003c0003 a0004c0005 a0007c0007	a0003c0003t0005 a0003c0003t0008 a0003c0003t0009 others(11): Show a0003c0003t0005 a0003c0003t0008 a0003c0003t0009 a0003c0003t0011 a0003c0003t0013 a0003c0003t0014 a0003c0003t0015 a0003c0003t0016 a0003c0003t0017 a0003c0003t0018 a0003c0003t0019 a0004c0005t0005 a0007c0007t0011 a0007c0007t0023	a0003c0003t0005g0020 a0003c0003t0005g0131 a0003c0003t0005g0132 others(18): Show a0003c0003t0005g0020 a0003c0003t0005g0131 a0003c0003t0005g0132 a0003c0003t0008g0103 a0003c0003t0008g0125 a0003c0003t0008g0127 a0003c0003t0008g0134 a0003c0003t0009g0033 a0003c0003t0009g0098 a0003c0003t0009g0099 a0003c0003t0011g0156 a0003c0003t0013g0136 a0003c0003t0014g0126 a0003c0003t0015g0133 a0003c0003t0016g0100 a0003c0003t0017g0123 a0003c0003t0018g0124 a0003c0003t0019g0128 a0004c0005t0005g0011 a0007c0007t0011g0049 a0007c0007t0023g0048	27	384	0.0703	c.858 others(3): Show c.858C>T	p.Tyr others(6): Show p.Tyr286Tyr	ABCD4	ENSG00000119688.21	transcript	ENST00000356924.9	protein_coding	9/19	880/3035	858/1821	286/606	chr14	TogoVar
ABCD4_chr14_74280269_74307934	74293212	C C	T T	synonymous_variant synonymous_variant	LOW	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0110 a0001c0016t0002g0110	1	384	0.0026	c.756 others(3): Show c.756G>A	p.Arg others(6): Show p.Arg252Arg	ABCD4	ENSG00000119688.21	transcript	ENST00000356924.9	protein_coding	8/19	778/3035	756/1821	252/606	chr14	TogoVar
ABCD4_chr14_74280269_74307934	74295889	C C	T T	synonymous_variant synonymous_variant	LOW	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0106 a0001c0015t0002g0106	1	384	0.0026	c.633 others(3): Show c.633G>A	p.Lys others(6): Show p.Lys211Lys	ABCD4	ENSG00000119688.21	transcript	ENST00000356924.9	protein_coding	6/19	655/3035	633/1821	211/606	chr14	TogoVar
ABCD4_chr14_74280269_74307934	74296383	G G	C C	synonymous_variant synonymous_variant	LOW	HG01081.hp2 HG01109.hp2 HG01243.hp2 others(24): Show HG01081.hp2 HG01109.hp2 HG01243.hp2 HG01884.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02897.hp1 HG02970.hp1 HG03041.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp2 NA21309.hp2	a0003 a0004 a0007 a0003 a0004 a0007	a0003c0003 a0004c0005 a0007c0007 a0003c0003 a0004c0005 a0007c0007	a0003c0003t0005 a0003c0003t0008 a0003c0003t0009 others(11): Show a0003c0003t0005 a0003c0003t0008 a0003c0003t0009 a0003c0003t0011 a0003c0003t0013 a0003c0003t0014 a0003c0003t0015 a0003c0003t0016 a0003c0003t0017 a0003c0003t0018 a0003c0003t0019 a0004c0005t0005 a0007c0007t0011 a0007c0007t0023	a0003c0003t0005g0020 a0003c0003t0005g0131 a0003c0003t0005g0132 others(18): Show a0003c0003t0005g0020 a0003c0003t0005g0131 a0003c0003t0005g0132 a0003c0003t0008g0103 a0003c0003t0008g0125 a0003c0003t0008g0127 a0003c0003t0008g0134 a0003c0003t0009g0033 a0003c0003t0009g0098 a0003c0003t0009g0099 a0003c0003t0011g0156 a0003c0003t0013g0136 a0003c0003t0014g0126 a0003c0003t0015g0133 a0003c0003t0016g0100 a0003c0003t0017g0123 a0003c0003t0018g0124 a0003c0003t0019g0128 a0004c0005t0005g0011 a0007c0007t0011g0049 a0007c0007t0023g0048	27	384	0.0703	c.492 others(3): Show c.492C>G	p.Leu others(6): Show p.Leu164Leu	ABCD4	ENSG00000119688.21	transcript	ENST00000356924.9	protein_coding	5/19	514/3035	492/1821	164/606	chr14	TogoVar
ABCD4_chr14_74280269_74307934	74299638	A A	G G	synonymous_variant synonymous_variant	LOW	HG02559.hp1 NA18522.hp1 HG02559.hp1 NA18522.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0139 a0001c0008t0001g0140 a0001c0008t0001g0139 a0001c0008t0001g0140	2	384	0.0052	c.195 others(3): Show c.195T>C	p.Ser others(5): Show p.Ser65Ser	ABCD4	ENSG00000119688.21	transcript	ENST00000356924.9	protein_coding	3/19	217/3035	195/1821	65/606	chr14	TogoVar
ABCD4_chr14_74280269_74307934	74299649	A A	G G	synonymous_variant synonymous_variant	LOW	HG00140.hp1 HG00280.hp2 HG00323.hp2 others(100): Show HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00621.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01257.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02280.hp1 HG02615.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG03209.hp1 HG03490.hp1 HG03654.hp1 HG03831.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18943.hp1 NA18946.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18982.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA19000.hp1 NA19001.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19055.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19078.hp2 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0010 a0011 a0002 a0010 a0011	a0002c0002 a0002c0012 a0010c0014 others(1): Show a0002c0002 a0002c0012 a0010c0014 a0011c0013	a0002c0002t0001 a0002c0002t0024 a0002c0012t0001 others(2): Show a0002c0002t0001 a0002c0002t0024 a0002c0012t0001 a0010c0014t0001 a0011c0013t0001	a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0013 others(52): Show a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0206 a0002c0002t0024g0060 a0002c0012t0001g0068 a0010c0014t0001g0065 a0011c0013t0001g0061	103	384	0.2682	c.184 others(3): Show c.184T>C	p.Leu others(5): Show p.Leu62Leu	ABCD4	ENSG00000119688.21	transcript	ENST00000356924.9	protein_coding	3/19	206/3035	184/1821	62/606	chr14	TogoVar
ABCD4_chr14_74280269_74307934	74300250	T T	C C	synonymous_variant synonymous_variant	LOW	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0186 a0001c0021t0001g0186	1	384	0.0026	c.57A others(2): Show c.57A>G	p.Gln others(5): Show p.Gln19Gln	ABCD4	ENSG00000119688.21	transcript	ENST00000356924.9	protein_coding	2/19	79/3035	57/1821	19/606	chr14	TogoVar
ABCE1_chr4_145093311_145134524	145109174	A A	T T	synonymous_variant synonymous_variant	LOW	HG02818.hp1 HG06807.hp2 HG02818.hp1 HG06807.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0130 a0001c0004t0004g0131 a0001c0004t0004g0130 a0001c0004t0004g0131	2	260	0.0077	c.330 others(3): Show c.330A>T	p.Gly others(6): Show p.Gly110Gly	ABCE1	ENSG00000164163.11	transcript	ENST00000296577.9	protein_coding	5/18	466/3887	330/1800	110/599	chr4	TogoVar
ABCE1_chr4_145093311_145134524	145112254	G G	A A	synonymous_variant synonymous_variant	LOW	HG02145.hp1 HG03209.hp2 NA18522.hp2 others(1): Show HG02145.hp1 HG03209.hp2 NA18522.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0013 a0001c0002t0003g0090 a0001c0002t0003g0013 a0001c0002t0003g0090	4	260	0.0154	c.726 others(3): Show c.726G>A	p.Glu others(6): Show p.Glu242Glu	ABCE1	ENSG00000164163.11	transcript	ENST00000296577.9	protein_coding	9/18	862/3887	726/1800	242/599	chr4	TogoVar
ABCE1_chr4_145093311_145134524	145123265	C C	T T	synonymous_variant synonymous_variant	LOW	HG01243.hp1 HG02723.hp1 HG02818.hp1 others(1): Show HG01243.hp1 HG02723.hp1 HG02818.hp1 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0006 a0001c0004t0004 a0001c0003t0006 a0001c0004t0004	a0001c0003t0006g0022 a0001c0004t0004g0130 a0001c0004t0004g0131 a0001c0003t0006g0022 a0001c0004t0004g0130 a0001c0004t0004g0131	4	260	0.0154	c.142 others(4): Show c.1425C>T	p.Cys others(6): Show p.Cys475Cys	ABCE1	ENSG00000164163.11	transcript	ENST00000296577.9	protein_coding	15/18	1561/3887	1425/1800	475/599	chr4	TogoVar
ABCF1_chr6_30566442_30596522	30578102	A A	G G	synonymous_variant synonymous_variant	LOW	HG01070.hp1 HG01071.hp1 HG01168.hp1 others(1): Show HG01070.hp1 HG01071.hp1 HG01168.hp1 NA18978.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0003 a0001c0003t0001g0064 a0001c0003t0001g0001 a0001c0003t0001g0003 a0001c0003t0001g0064	4	415	0.0096	c.243 others(3): Show c.243A>G	p.Lys others(5): Show p.Lys81Lys	ABCF1	ENSG00000204574.14	transcript	ENST00000326195.13	protein_coding	4/25	289/3405	243/2538	81/845	chr6	TogoVar
ABCF1_chr6_30566442_30596522	30583649	C C	T T	synonymous_variant synonymous_variant	LOW	HG02896.hp2 HG02976.hp1 HG02896.hp2 HG02976.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0086 a0002c0007t0002g0087 a0002c0007t0002g0086 a0002c0007t0002g0087	2	415	0.0048	c.957 others(3): Show c.957C>T	p.Phe others(6): Show p.Phe319Phe	ABCF1	ENSG00000204574.14	transcript	ENST00000326195.13	protein_coding	11/25	1003/3405	957/2538	319/845	chr6	TogoVar
ABCF2_chr7_151206484_151232205	151215664	G G	T T	synonymous_variant synonymous_variant	LOW	HG00741.hp1 HG01069.hp2 HG01175.hp1 others(17): Show HG00741.hp1 HG01069.hp2 HG01175.hp1 HG01433.hp2 HG01516.hp1 HG01975.hp1 HG02004.hp1 HG02451.hp1 HG02976.hp2 HG03654.hp2 HG03927.hp2 NA18956.hp2 NA18970.hp2 NA18991.hp2 NA18992.hp2 NA19056.hp2 NA19075.hp1 NA19077.hp1 NA19080.hp2 NA20300.hp1	a0001 a0001	a0001c0005 a0001c0010 a0001c0012 a0001c0005 a0001c0010 a0001c0012	a0001c0005t0005 a0001c0005t0023 a0001c0005t0024 others(4): Show a0001c0005t0005 a0001c0005t0023 a0001c0005t0024 a0001c0005t0047 a0001c0005t0049 a0001c0010t0005 a0001c0012t0023	a0001c0005t0005g0008 a0001c0005t0005g0044 a0001c0005t0005g0046 others(7): Show a0001c0005t0005g0008 a0001c0005t0005g0044 a0001c0005t0005g0046 a0001c0005t0023g0045 a0001c0005t0024g0078 a0001c0005t0024g0079 a0001c0005t0047g0077 a0001c0005t0049g0048 a0001c0010t0005g0047 a0001c0012t0023g0049	20	390	0.0513	c.147 others(4): Show c.1470C>A	p.Ile others(6): Show p.Ile490Ile	ABCF2	ENSG00000033050.9	transcript	ENST00000287844.7	protein_coding	13/15	1555/4527	1470/1872	490/623	chr7	TogoVar
ABCF2_chr7_151206484_151232205	151215700	T T	C C	synonymous_variant synonymous_variant	LOW	HG00741.hp1 HG01069.hp2 HG01175.hp1 others(28): Show HG00741.hp1 HG01069.hp2 HG01175.hp1 HG01433.hp2 HG01516.hp1 HG01884.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp1 HG02055.hp2 HG02451.hp1 HG02615.hp2 HG02809.hp2 HG02886.hp2 HG02976.hp2 HG03139.hp2 HG03195.hp1 HG03540.hp2 HG03654.hp2 HG03927.hp2 NA18906.hp1 NA18956.hp2 NA18970.hp2 NA18991.hp2 NA18992.hp2 NA19056.hp2 NA19075.hp1 NA19077.hp1 NA19080.hp2 NA20300.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0008 others(3): Show a0001c0005 a0001c0006 a0001c0008 a0001c0010 a0001c0012 a0001c0013	a0001c0005t0005 a0001c0005t0023 a0001c0005t0024 others(9): Show a0001c0005t0005 a0001c0005t0023 a0001c0005t0024 a0001c0005t0047 a0001c0005t0049 a0001c0006t0010 a0001c0006t0011 a0001c0006t0013 a0001c0008t0010 a0001c0010t0005 a0001c0012t0023 a0001c0013t0010	a0001c0005t0005g0008 a0001c0005t0005g0044 a0001c0005t0005g0046 others(15): Show a0001c0005t0005g0008 a0001c0005t0005g0044 a0001c0005t0005g0046 a0001c0005t0023g0045 a0001c0005t0024g0078 a0001c0005t0024g0079 a0001c0005t0047g0077 a0001c0005t0049g0048 a0001c0006t0010g0072 a0001c0006t0010g0073 a0001c0006t0011g0076 a0001c0006t0013g0030 a0001c0006t0013g0031 a0001c0008t0010g0033 a0001c0008t0010g0074 a0001c0010t0005g0047 a0001c0012t0023g0049 a0001c0013t0010g0075	31	390	0.0795	c.143 others(4): Show c.1434A>G	p.Ser others(6): Show p.Ser478Ser	ABCF2	ENSG00000033050.9	transcript	ENST00000287844.7	protein_coding	13/15	1519/4527	1434/1872	478/623	chr7	TogoVar
ABCF2_chr7_151206484_151232205	151218573	A A	G G	synonymous_variant synonymous_variant	LOW	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0047 a0001c0010t0005g0047	1	390	0.0026	c.121 others(4): Show c.1215T>C	p.Tyr others(6): Show p.Tyr405Tyr	ABCF2	ENSG00000033050.9	transcript	ENST00000287844.7	protein_coding	10/15	1300/4527	1215/1872	405/623	chr7	TogoVar
ABCF2_chr7_151206484_151232205	151218766	G G	A A	synonymous_variant synonymous_variant	LOW	HG03195.hp1 NA19068.hp1 HG03195.hp1 NA19068.hp1	a0001 a0001	a0001c0011 a0001c0013 a0001c0011 a0001c0013	a0001c0011t0001 a0001c0013t0010 a0001c0011t0001 a0001c0013t0010	a0001c0011t0001g0102 a0001c0013t0010g0075 a0001c0011t0001g0102 a0001c0013t0010g0075	2	390	0.0051	c.112 others(4): Show c.1125C>T	p.Val others(6): Show p.Val375Val	ABCF2	ENSG00000033050.9	transcript	ENST00000287844.7	protein_coding	9/15	1210/4527	1125/1872	375/623	chr7	TogoVar
ABCF2_chr7_151206484_151232205	151218862	C C	T T	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(20): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG02257.hp1 HG02647.hp2 HG02717.hp1 HG02965.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0026 a0001c0004t0042 others(2): Show a0001c0004t0004 a0001c0004t0026 a0001c0004t0042 a0001c0004t0046 a0001c0004t0050	a0001c0004t0004g0005 a0001c0004t0004g0071 a0001c0004t0026g0026 others(3): Show a0001c0004t0004g0005 a0001c0004t0004g0071 a0001c0004t0026g0026 a0001c0004t0042g0053 a0001c0004t0046g0070 a0001c0004t0050g0126	23	390	0.0590	c.102 others(4): Show c.1029G>A	p.Ala others(6): Show p.Ala343Ala	ABCF2	ENSG00000033050.9	transcript	ENST00000287844.7	protein_coding	9/15	1114/4527	1029/1872	343/623	chr7	TogoVar
ABCF2_chr7_151206484_151232205	151219142	G G	A A	synonymous_variant synonymous_variant	LOW	HG00423.hp2 HG00438.hp1 HG00544.hp1 others(148): Show HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02922.hp1 HG02970.hp2 HG03209.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03831.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp2 NA18975.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18993.hp1 NA18995.hp1 NA18997.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19054.hp2 NA19056.hp1 NA19058.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19075.hp2 NA19076.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0011 a0001c0001 a0001c0009 a0001c0011	a0001c0001t0001 a0001c0001t0014 a0001c0001t0016 others(14): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0048 a0001c0009t0001 a0001c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(41): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0014g0021 a0001c0001t0016g0037 a0001c0001t0016g0112 a0001c0001t0019g0036 a0001c0001t0021g0090 a0001c0001t0021g0096 a0001c0001t0022g0098 a0001c0001t0027g0040 a0001c0001t0028g0092 a0001c0001t0029g0093 a0001c0001t0030g0094 a0001c0001t0031g0095 a0001c0001t0032g0105 a0001c0001t0033g0097 a0001c0001t0034g0106 a0001c0001t0048g0099 a0001c0009t0001g0080 a0001c0011t0001g0102	151	390	0.3872	c.939 others(3): Show c.939C>T	p.Tyr others(6): Show p.Tyr313Tyr	ABCF2	ENSG00000033050.9	transcript	ENST00000287844.7	protein_coding	8/15	1024/4527	939/1872	313/623	chr7	TogoVar
ABCF2_chr7_151206484_151232205	151223805	G G	A A	synonymous_variant synonymous_variant	LOW	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0023 a0001c0012t0023	a0001c0012t0023g0049 a0001c0012t0023g0049	1	390	0.0026	c.595 others(3): Show c.595C>T	p.Leu others(6): Show p.Leu199Leu	ABCF2	ENSG00000033050.9	transcript	ENST00000287844.7	protein_coding	5/15	680/4527	595/1872	199/623	chr7	TogoVar
ABCF2_chr7_151206484_151232205	151223833	G G	A A	synonymous_variant synonymous_variant	LOW	HG02615.hp2 HG02886.hp2 HG03139.hp2 others(1): Show HG02615.hp2 HG02886.hp2 HG03139.hp2 HG03195.hp1	a0001 a0001	a0001c0008 a0001c0013 a0001c0008 a0001c0013	a0001c0008t0010 a0001c0013t0010 a0001c0008t0010 a0001c0013t0010	a0001c0008t0010g0033 a0001c0008t0010g0074 a0001c0013t0010g0075 a0001c0008t0010g0033 a0001c0008t0010g0074 a0001c0013t0010g0075	4	390	0.0103	c.567 others(3): Show c.567C>T	p.Leu others(6): Show p.Leu189Leu	ABCF2	ENSG00000033050.9	transcript	ENST00000287844.7	protein_coding	5/15	652/4527	567/1872	189/623	chr7	TogoVar
ABCF2_chr7_151206484_151232205	151224783	A A	G G	synonymous_variant synonymous_variant	LOW	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0080 a0001c0009t0001g0080	1	390	0.0026	c.360 others(3): Show c.360T>C	p.Asn others(6): Show p.Asn120Asn	ABCF2	ENSG00000033050.9	transcript	ENST00000287844.7	protein_coding	3/15	445/4527	360/1872	120/623	chr7	TogoVar
ABCF2_chr7_151206484_151232205	151224864	A A	G G	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(294): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18995.hp1 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19077.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013	a0001c0001t0001 a0001c0001t0014 a0001c0001t0016 others(47): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0048 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0011 a0001c0002t0012 a0001c0002t0017 a0001c0002t0020 a0001c0002t0022 a0001c0002t0035 a0001c0002t0039 a0001c0002t0040 a0001c0002t0043 a0001c0002t0044 a0001c0002t0045 a0001c0004t0004 a0001c0004t0026 a0001c0004t0042 a0001c0004t0046 a0001c0004t0050 a0001c0005t0005 a0001c0005t0023 a0001c0005t0024 a0001c0005t0047 a0001c0005t0049 a0001c0006t0010 a0001c0006t0011 a0001c0006t0013 a0001c0008t0010 a0001c0009t0001 a0001c0010t0005 a0001c0011t0001 a0001c0012t0023 a0001c0013t0010	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(97): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0014g0021 a0001c0001t0016g0037 a0001c0001t0016g0112 a0001c0001t0019g0036 a0001c0001t0021g0090 a0001c0001t0021g0096 a0001c0001t0022g0098 a0001c0001t0027g0040 a0001c0001t0028g0092 a0001c0001t0029g0093 a0001c0001t0030g0094 a0001c0001t0031g0095 a0001c0001t0032g0105 a0001c0001t0033g0097 a0001c0001t0034g0106 a0001c0001t0048g0099 a0001c0002t0003g0004 a0001c0002t0003g0010 a0001c0002t0003g0014 a0001c0002t0003g0116 a0001c0002t0003g0119 a0001c0002t0003g0123 a0001c0002t0003g0125 a0001c0002t0006g0007 a0001c0002t0006g0051 a0001c0002t0007g0013 a0001c0002t0007g0084 a0001c0002t0008g0024 a0001c0002t0008g0039 a0001c0002t0008g0052 a0001c0002t0008g0114 a0001c0002t0009g0015 a0001c0002t0009g0025 a0001c0002t0009g0054 a0001c0002t0011g0022 a0001c0002t0012g0020 a0001c0002t0012g0083 a0001c0002t0017g0113 a0001c0002t0017g0115 a0001c0002t0020g0120 a0001c0002t0020g0124 a0001c0002t0022g0089 a0001c0002t0035g0117 a0001c0002t0039g0121 a0001c0002t0040g0085 a0001c0002t0043g0122 a0001c0002t0044g0081 a0001c0002t0045g0082 a0001c0004t0004g0005 a0001c0004t0004g0071 a0001c0004t0026g0026 a0001c0004t0042g0053 a0001c0004t0046g0070 a0001c0004t0050g0126 a0001c0005t0005g0008 a0001c0005t0005g0044 a0001c0005t0005g0046 a0001c0005t0023g0045 a0001c0005t0024g0078 a0001c0005t0024g0079 a0001c0005t0047g0077 a0001c0005t0049g0048 a0001c0006t0010g0072 a0001c0006t0010g0073 a0001c0006t0011g0076 a0001c0006t0013g0030 a0001c0006t0013g0031 a0001c0008t0010g0033 a0001c0008t0010g0074 a0001c0009t0001g0080 a0001c0010t0005g0047 a0001c0011t0001g0102 a0001c0012t0023g0049 a0001c0013t0010g0075	297	390	0.7615	c.279 others(3): Show c.279T>C	p.Leu others(5): Show p.Leu93Leu	ABCF2	ENSG00000033050.9	transcript	ENST00000287844.7	protein_coding	3/15	364/4527	279/1872	93/623	chr7	TogoVar
ABCF2_chr7_151206484_151232205	151226447	G G	A A	synonymous_variant synonymous_variant	LOW	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0118 a0001c0014t0002g0118	1	390	0.0026	c.12C others(2): Show c.12C>T	p.Asp others(4): Show p.Asp4Asp	ABCF2	ENSG00000033050.9	transcript	ENST00000287844.7	protein_coding	2/15	97/4527	12/1872	4/623	chr7	TogoVar
ABCF3_chr3_184181199_184199005	184186243	C C	T T	synonymous_variant synonymous_variant	LOW	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0003 a0001c0016t0001g0003	1	416	0.0024	c.36C others(2): Show c.36C>T	p.Phe others(5): Show p.Phe12Phe	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding	1/21	45/2446	36/2130	12/709	chr3	TogoVar
ABCF3_chr3_184181199_184199005	184186261	A A	G G	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00140.hp1 HG00423.hp2 others(87): Show HG00099.hp1 HG00140.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG01070.hp1 HG01081.hp1 HG01106.hp2 HG01192.hp1 HG01257.hp2 HG01258.hp1 HG01496.hp1 HG01515.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02074.hp1 HG02132.hp1 HG02155.hp1 HG02293.hp2 HG02300.hp1 HG02683.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03710.hp1 NA18747.hp1 NA18940.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18961.hp2 NA18967.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp2 NA18980.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18990.hp2 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19003.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19091.hp2 NA20752.hp1 NA20905.hp2	a0001 a0005 a0010 others(1): Show a0001 a0005 a0010 a0011	a0001c0002 a0001c0014 a0005c0006 others(2): Show a0001c0002 a0001c0014 a0005c0006 a0010c0013 a0011c0015	a0001c0002t0001 a0001c0014t0001 a0005c0006t0001 others(2): Show a0001c0002t0001 a0001c0014t0001 a0005c0006t0001 a0010c0013t0001 a0011c0015t0001	a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0032 others(8): Show a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0014t0001g0002 a0005c0006t0001g0002 a0010c0013t0001g0031 a0011c0015t0001g0002	90	416	0.2164	c.54A others(2): Show c.54A>G	p.Gln others(5): Show p.Gln18Gln	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding	1/21	63/2446	54/2130	18/709	chr3	TogoVar
ABCF3_chr3_184181199_184199005	184191035	C C	T T	synonymous_variant synonymous_variant	LOW	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0001 a0001c0010t0001g0001	1	416	0.0024	c.142 others(4): Show c.1428C>T	p.Val others(6): Show p.Val476Val	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding	15/21	1437/2446	1428/2130	476/709	chr3	TogoVar
ABCF3_chr3_184181199_184199005	184192687	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0002 a0001c0014t0001g0002	1	416	0.0024	c.165 others(4): Show c.1656C>T	p.His others(6): Show p.His552His	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding	17/21	1665/2446	1656/2130	552/709	chr3	TogoVar
ABCF3_chr3_184181199_184199005	184193136	T T	G G	synonymous_variant synonymous_variant	LOW	NA18961.hp2 NA18961.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0031 a0010c0013t0001g0031	1	416	0.0024	c.178 others(4): Show c.1785T>G	p.Gly others(6): Show p.Gly595Gly	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding	19/21	1794/2446	1785/2130	595/709	chr3	TogoVar
ABCF3_chr3_184181199_184199005	184193172	T T	C C	synonymous_variant synonymous_variant	LOW	NA18961.hp2 NA18961.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0031 a0010c0013t0001g0031	1	416	0.0024	c.182 others(4): Show c.1821T>C	p.Pro others(6): Show p.Pro607Pro	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding	19/21	1830/2446	1821/2130	607/709	chr3	TogoVar
ABCF3_chr3_184181199_184199005	184193677	C C	T T	synonymous_variant synonymous_variant	LOW	HG00642.hp1 HG03704.hp2 HG00642.hp1 HG03704.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0001 a0001c0007t0001g0001	2	416	0.0048	c.210 others(4): Show c.2109C>T	p.Phe others(6): Show p.Phe703Phe	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding	21/21	2118/2446	2109/2130	703/709	chr3	TogoVar
ABCG1_chr21_42214140_42302244	42219271	T T	C C	synonymous_variant synonymous_variant	LOW	HG03516.hp1 HG03516.hp2 HG03516.hp1 HG03516.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0015 a0001c0007t0016 a0001c0007t0015 a0001c0007t0016	a0001c0007t0015g0348 a0001c0007t0016g0347 a0001c0007t0015g0348 a0001c0007t0016g0347	2	354	0.0057	c.9T> others(1): Show c.9T>C	p.Cys others(4): Show p.Cys3Cys	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	1/15	132/2976	9/2001	3/666	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42225724	G G	A A	synonymous_variant synonymous_variant	LOW	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0011 a0001c0008t0011	a0001c0008t0011g0042 a0001c0008t0011g0042	1	354	0.0028	c.96G others(2): Show c.96G>A	p.Ser others(5): Show p.Ser32Ser	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	2/15	219/2976	96/2001	32/666	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42271122	G G	A A	synonymous_variant synonymous_variant	LOW	HG00408.hp1 HG00558.hp1 HG01975.hp2 others(7): Show HG00408.hp1 HG00558.hp1 HG01975.hp2 HG02015.hp2 HG02040.hp1 HG02132.hp1 HG02148.hp1 NA18952.hp1 NA18981.hp2 NA19091.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 others(4): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0008 a0001c0003t0019	a0001c0003t0001g0250 a0001c0003t0003g0212 a0001c0003t0003g0259 others(7): Show a0001c0003t0001g0250 a0001c0003t0003g0212 a0001c0003t0003g0259 a0001c0003t0005g0041 a0001c0003t0005g0048 a0001c0003t0005g0052 a0001c0003t0006g0044 a0001c0003t0007g0054 a0001c0003t0008g0117 a0001c0003t0019g0029	10	354	0.0283	c.339 others(3): Show c.339G>A	p.Leu others(6): Show p.Leu113Leu	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	3/15	462/2976	339/2001	113/666	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42273345	C C	G G	synonymous_variant synonymous_variant	LOW	HG01070.hp2 HG01071.hp1 HG02280.hp1 HG01070.hp2 HG01071.hp1 HG02280.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0004 a0001c0006t0001 a0001c0006t0004	a0001c0006t0001g0006 a0001c0006t0004g0321 a0001c0006t0001g0006 a0001c0006t0004g0321	3	354	0.0085	c.447 others(3): Show c.447C>G	p.Pro others(6): Show p.Pro149Pro	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	4/15	570/2976	447/2001	149/666	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42287908	C C	T T	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG01891.hp2 HG03490.hp1 HG00099.hp2 HG01891.hp2 HG03490.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0131 a0001c0005t0008g0170 a0001c0005t0008g0314 a0001c0005t0008g0131 a0001c0005t0008g0170 a0001c0005t0008g0314	3	354	0.0085	c.993 others(3): Show c.993C>T	p.Gly others(6): Show p.Gly331Gly	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	9/15	1116/2976	993/2001	331/666	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42288312	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0004 a0001c0011t0004	a0001c0011t0004g0087 a0001c0011t0004g0087	1	354	0.0028	c.122 others(4): Show c.1224G>A	p.Ser others(6): Show p.Ser408Ser	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	10/15	1347/2976	1224/2001	408/666	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42290193	G G	C C	synonymous_variant synonymous_variant	LOW	HG02109.hp2 HG02451.hp1 HG02615.hp1 others(10): Show HG02109.hp2 HG02451.hp1 HG02615.hp1 HG02615.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0016 a0001c0002t0002 a0001c0002t0004 a0001c0002t0016	a0001c0002t0002g0078 a0001c0002t0002g0094 a0001c0002t0002g0143 others(9): Show a0001c0002t0002g0078 a0001c0002t0002g0094 a0001c0002t0002g0143 a0001c0002t0002g0270 a0001c0002t0002g0282 a0001c0002t0002g0324 a0001c0002t0002g0330 a0001c0002t0002g0331 a0001c0002t0002g0332 a0001c0002t0004g0004 a0001c0002t0004g0274 a0001c0002t0016g0343	13	354	0.0367	c.136 others(4): Show c.1368G>C	p.Ala others(6): Show p.Ala456Ala	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	11/15	1491/2976	1368/2001	456/666	chr21	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)