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
ABCA9_chr17_68969488_69065927	68989851	T T	G G	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(115): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01346.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02602.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02970.hp2 HG03130.hp2 HG03139.hp2 HG03490.hp2 HG03491.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18939.hp1 NA18946.hp2 NA18949.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18962.hp2 NA18965.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18985.hp2 NA18986.hp2 NA18987.hp2 NA18990.hp1 NA18992.hp1 NA18993.hp2 NA19002.hp1 NA19004.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19054.hp2 NA19056.hp1 NA19058.hp2 NA19060.hp1 NA19065.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19075.hp2 NA19080.hp1 NA19082.hp1 NA19083.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0006 a0013 others(4): Show a0002 a0006 a0013 a0014 a0015 a0017 a0020	a0002c0002 a0002c0004 a0002c0026 others(8): Show a0002c0002 a0002c0004 a0002c0026 a0002c0027 a0002c0028 a0006c0010 a0013c0016 a0014c0031 a0015c0030 a0017c0025 a0020c0024	a0002c0002t0002 a0002c0002t0007 a0002c0004t0002 others(9): Show a0002c0002t0002 a0002c0002t0007 a0002c0004t0002 a0002c0026t0002 a0002c0027t0002 a0002c0028t0002 a0006c0010t0002 a0013c0016t0002 a0014c0031t0002 a0015c0030t0002 a0017c0025t0002 a0020c0024t0002	a0002c0002t0002g0002 a0002c0002t0002g0005 a0002c0002t0002g0006 others(111): Show a0002c0002t0002g0002 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0011 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0082 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0114 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0140 a0002c0002t0002g0142 a0002c0002t0002g0143 a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0224 a0002c0002t0002g0233 a0002c0002t0002g0260 a0002c0002t0007g0132 a0002c0002t0007g0133 a0002c0004t0002g0085 a0002c0004t0002g0108 a0002c0004t0002g0109 a0002c0004t0002g0110 a0002c0004t0002g0111 a0002c0004t0002g0112 a0002c0004t0002g0113 a0002c0004t0002g0139 a0002c0004t0002g0148 a0002c0004t0002g0156 a0002c0004t0002g0157 a0002c0004t0002g0183 a0002c0004t0002g0184 a0002c0004t0002g0197 a0002c0004t0002g0212 a0002c0004t0002g0247 a0002c0004t0002g0262 a0002c0004t0002g0265 a0002c0004t0002g0267 a0002c0026t0002g0073 a0002c0027t0002g0069 a0002c0028t0002g0081 a0006c0010t0002g0083 a0006c0010t0002g0120 a0006c0010t0002g0144 a0006c0010t0002g0145 a0006c0010t0002g0155 a0013c0016t0002g0050 a0014c0031t0002g0236 a0015c0030t0002g0205 a0017c0025t0002g0058 a0020c0024t0002g0062	118	312	0.3782	c.391 others(4): Show c.3917A>C	p.Lys others(7): Show p.Lys1306Thr	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	30/39	3992/6377	3917/4875	1306/1624	chr17	TogoVar
ABCA9_chr17_68969488_69065927	68989875	T T	C C	missense_variant missense_variant	MODERATE	HG03516.hp2 HG03516.hp2	a0019 a0019	a0019c0023 a0019c0023	a0019c0023t0003 a0019c0023t0003	a0019c0023t0003g0013 a0019c0023t0003g0013	1	312	0.0032	c.389 others(4): Show c.3893A>G	p.Asn others(7): Show p.Asn1298Ser	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	30/39	3968/6377	3893/4875	1298/1624	chr17	TogoVar
ABCA9_chr17_68969488_69065927	69016293	G G	A A	missense_variant missense_variant	MODERATE	NA19009.hp2 NA19009.hp2	a0015 a0015	a0015c0030 a0015c0030	a0015c0030t0002 a0015c0030t0002	a0015c0030t0002g0205 a0015c0030t0002g0205	1	312	0.0032	c.299 others(4): Show c.2999C>T	p.Ser others(7): Show p.Ser1000Leu	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	22/39	3074/6377	2999/4875	1000/1624	chr17	TogoVar
ABCA9_chr17_68969488_69065927	69016309	G G	A A	missense_variant missense_variant	MODERATE	HG00733.hp1 HG03041.hp2 HG03098.hp1 others(2): Show HG00733.hp1 HG03041.hp2 HG03098.hp1 NA19043.hp1 NA19240.hp1	a0008 a0009 a0008 a0009	a0008c0013 a0008c0020 a0009c0011 a0008c0013 a0008c0020 a0009c0011	a0008c0013t0003 a0008c0020t0003 a0009c0011t0003 a0008c0013t0003 a0008c0020t0003 a0009c0011t0003	a0008c0013t0003g0056 a0008c0013t0003g0057 a0008c0020t0003g0054 others(2): Show a0008c0013t0003g0056 a0008c0013t0003g0057 a0008c0020t0003g0054 a0009c0011t0003g0046 a0009c0011t0003g0047	5	312	0.0160	c.298 others(4): Show c.2983C>T	p.Leu others(6): Show p.Leu995Phe	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	22/39	3058/6377	2983/4875	995/1624	chr17	TogoVar
ABCA9_chr17_68969488_69065927	69017778	C C	T T	missense_variant missense_variant	MODERATE	NA19075.hp2 NA19075.hp2	a0017 a0017	a0017c0025 a0017c0025	a0017c0025t0002 a0017c0025t0002	a0017c0025t0002g0058 a0017c0025t0002g0058	1	312	0.0032	c.277 others(4): Show c.2779G>A	p.Asp others(6): Show p.Asp927Asn	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	21/39	2854/6377	2779/4875	927/1624	chr17	TogoVar
ABCA9_chr17_68969488_69065927	69018533	G G	C C	missense_variant missense_variant	MODERATE	HG02451.hp1 HG03516.hp1 HG03516.hp2 HG02451.hp1 HG03516.hp1 HG03516.hp2	a0018 a0019 a0023 a0018 a0019 a0023	a0018c0022 a0019c0023 a0023c0019 a0018c0022 a0019c0023 a0023c0019	a0018c0022t0003 a0019c0023t0003 a0023c0019t0003 a0018c0022t0003 a0019c0023t0003 a0023c0019t0003	a0018c0022t0003g0014 a0019c0023t0003g0013 a0023c0019t0003g0055 a0018c0022t0003g0014 a0019c0023t0003g0013 a0023c0019t0003g0055	3	312	0.0096	c.264 others(4): Show c.2647C>G	p.Leu others(6): Show p.Leu883Val	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	20/39	2722/6377	2647/4875	883/1624	chr17	TogoVar
ABCA9_chr17_68969488_69065927	69021789	T T	C C	missense_variant missense_variant	MODERATE	HG01257.hp1 HG01496.hp2 HG01952.hp2 others(2): Show HG01257.hp1 HG01496.hp2 HG01952.hp2 HG01978.hp2 HG02273.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0002 a0006c0010t0002	a0006c0010t0002g0083 a0006c0010t0002g0120 a0006c0010t0002g0144 others(2): Show a0006c0010t0002g0083 a0006c0010t0002g0120 a0006c0010t0002g0144 a0006c0010t0002g0145 a0006c0010t0002g0155	5	312	0.0160	c.235 others(4): Show c.2354A>G	p.Asn others(6): Show p.Asn785Ser	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	18/39	2429/6377	2354/4875	785/1624	chr17	TogoVar
ABCA9_chr17_68969488_69065927	69029202	C C	T T	missense_variant missense_variant	MODERATE	HG02735.hp2 HG02735.hp2	a0020 a0020	a0020c0024 a0020c0024	a0020c0024t0002 a0020c0024t0002	a0020c0024t0002g0062 a0020c0024t0002g0062	1	312	0.0032	c.147 others(4): Show c.1471G>A	p.Ala others(6): Show p.Ala491Thr	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	11/39	1546/6377	1471/4875	491/1624	chr17	TogoVar
ABCA9_chr17_68969488_69065927	69033857	T T	C C	missense_variant missense_variant	MODERATE	NA19087.hp1 NA19087.hp1	a0014 a0014	a0014c0031 a0014c0031	a0014c0031t0002 a0014c0031t0002	a0014c0031t0002g0236 a0014c0031t0002g0236	1	312	0.0032	c.114 others(4): Show c.1145A>G	p.Tyr others(6): Show p.Tyr382Cys	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	9/39	1220/6377	1145/4875	382/1624	chr17	TogoVar
ABCA9_chr17_68969488_69065927	69035316	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(275): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(19): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023	a0001c0001 a0001c0007 a0001c0008 others(28): Show a0001c0001 a0001c0007 a0001c0008 a0001c0021 a0001c0029 a0002c0002 a0002c0004 a0002c0026 a0002c0027 a0002c0028 a0004c0005 a0005c0006 a0006c0010 a0007c0009 a0008c0013 a0008c0020 a0009c0011 a0010c0012 a0011c0015 a0012c0014 a0013c0016 a0014c0031 a0015c0030 a0016c0017 a0017c0025 a0018c0022 a0019c0023 a0020c0024 a0021c0032 a0022c0018 a0023c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(36): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0007t0001 a0001c0007t0004 a0001c0008t0001 a0001c0021t0003 a0001c0029t0001 a0002c0002t0002 a0002c0002t0007 a0002c0004t0002 a0002c0026t0002 a0002c0027t0002 a0002c0028t0002 a0004c0005t0003 a0005c0006t0001 a0006c0010t0002 a0007c0009t0005 a0008c0013t0003 a0008c0020t0003 a0009c0011t0003 a0010c0012t0001 a0011c0015t0003 a0012c0014t0003 a0013c0016t0002 a0014c0031t0002 a0015c0030t0002 a0016c0017t0003 a0017c0025t0002 a0018c0022t0003 a0019c0023t0003 a0020c0024t0002 a0021c0032t0001 a0022c0018t0014 a0023c0019t0003	a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0061 others(263): Show a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0061 a0001c0001t0001g0084 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0003g0165 a0001c0001t0006g0051 a0001c0001t0006g0052 a0001c0001t0006g0053 a0001c0001t0008g0250 a0001c0001t0008g0251 a0001c0001t0009g0199 a0001c0001t0011g0249 a0001c0001t0012g0234 a0001c0007t0001g0008 a0001c0007t0001g0090 a0001c0007t0001g0115 a0001c0007t0001g0116 a0001c0007t0001g0141 a0001c0007t0001g0161 a0001c0007t0001g0211 a0001c0007t0001g0225 a0001c0007t0001g0241 a0001c0007t0004g0093 a0001c0008t0001g0167 a0001c0008t0001g0181 a0001c0008t0001g0190 a0001c0008t0001g0191 a0001c0008t0001g0192 a0001c0008t0001g0193 a0001c0008t0001g0196 a0001c0008t0001g0263 a0001c0021t0003g0015 a0001c0029t0001g0200 a0002c0002t0002g0002 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0011 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0082 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0114 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0140 a0002c0002t0002g0142 a0002c0002t0002g0143 a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0224 a0002c0002t0002g0233 a0002c0002t0002g0260 a0002c0002t0007g0132 a0002c0002t0007g0133 a0002c0004t0002g0085 a0002c0004t0002g0108 a0002c0004t0002g0109 a0002c0004t0002g0110 a0002c0004t0002g0111 a0002c0004t0002g0112 a0002c0004t0002g0113 a0002c0004t0002g0139 a0002c0004t0002g0148 a0002c0004t0002g0156 a0002c0004t0002g0157 a0002c0004t0002g0183 a0002c0004t0002g0184 a0002c0004t0002g0197 a0002c0004t0002g0212 a0002c0004t0002g0247 a0002c0004t0002g0262 a0002c0004t0002g0265 a0002c0004t0002g0267 a0002c0026t0002g0073 a0002c0027t0002g0069 a0002c0028t0002g0081 a0004c0005t0003g0001 a0004c0005t0003g0268 a0004c0005t0003g0269 a0004c0005t0003g0270 a0004c0005t0003g0271 a0004c0005t0003g0272 a0004c0005t0003g0274 a0004c0005t0003g0285 a0004c0005t0003g0286 a0004c0005t0003g0287 a0004c0005t0003g0288 a0004c0005t0003g0289 a0004c0005t0003g0290 a0004c0005t0003g0291 a0005c0006t0001g0009 a0005c0006t0001g0275 a0005c0006t0001g0276 a0005c0006t0001g0277 a0005c0006t0001g0278 a0005c0006t0001g0279 a0005c0006t0001g0280 a0005c0006t0001g0281 a0005c0006t0001g0283 a0005c0006t0001g0284 a0005c0006t0001g0292 a0005c0006t0001g0293 a0005c0006t0001g0294 a0006c0010t0002g0083 a0006c0010t0002g0120 a0006c0010t0002g0144 a0006c0010t0002g0145 a0006c0010t0002g0155 a0007c0009t0005g0010 a0007c0009t0005g0295 a0007c0009t0005g0296 a0007c0009t0005g0297 a0008c0013t0003g0056 a0008c0013t0003g0057 a0008c0020t0003g0054 a0009c0011t0003g0046 a0009c0011t0003g0047 a0010c0012t0001g0273 a0010c0012t0001g0282 a0011c0015t0003g0049 a0012c0014t0003g0048 a0013c0016t0002g0050 a0014c0031t0002g0236 a0015c0030t0002g0205 a0016c0017t0003g0189 a0017c0025t0002g0058 a0018c0022t0003g0014 a0019c0023t0003g0013 a0020c0024t0002g0062 a0021c0032t0001g0226 a0022c0018t0014g0298 a0023c0019t0003g0055	278	312	0.8910	c.105 others(4): Show c.1058G>A	p.Arg others(6): Show p.Arg353His	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	8/39	1133/6377	1058/4875	353/1624	chr17	TogoVar
ABCA9_chr17_68969488_69065927	69035396	C C	A A	missense_variant missense_variant	MODERATE	NA19054.hp1 NA19054.hp1	a0021 a0021	a0021c0032 a0021c0032	a0021c0032t0001 a0021c0032t0001	a0021c0032t0001g0226 a0021c0032t0001g0226	1	312	0.0032	c.978 others(3): Show c.978G>T	p.Lys others(6): Show p.Lys326Asn	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	8/39	1053/6377	978/4875	326/1624	chr17	TogoVar
ABCA9_chr17_68969488_69065927	69035739	A A	G G	missense_variant missense_variant	MODERATE	HG00733.hp1 HG01069.hp1 HG01071.hp1 others(7): Show HG00733.hp1 HG01069.hp1 HG01071.hp1 HG01106.hp1 HG02055.hp2 HG03098.hp1 HG03471.hp2 HG03516.hp1 NA19043.hp1 NA19043.hp2	a0007 a0008 a0022 others(1): Show a0007 a0008 a0022 a0023	a0007c0009 a0008c0013 a0008c0020 others(2): Show a0007c0009 a0008c0013 a0008c0020 a0022c0018 a0023c0019	a0007c0009t0005 a0008c0013t0003 a0008c0020t0003 others(2): Show a0007c0009t0005 a0008c0013t0003 a0008c0020t0003 a0022c0018t0014 a0023c0019t0003	a0007c0009t0005g0010 a0007c0009t0005g0295 a0007c0009t0005g0296 others(6): Show a0007c0009t0005g0010 a0007c0009t0005g0295 a0007c0009t0005g0296 a0007c0009t0005g0297 a0008c0013t0003g0056 a0008c0013t0003g0057 a0008c0020t0003g0054 a0022c0018t0014g0298 a0023c0019t0003g0055	10	312	0.0321	c.863 others(3): Show c.863T>C	p.Ile others(6): Show p.Ile288Thr	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	7/39	938/6377	863/4875	288/1624	chr17	TogoVar
ABCA9_chr17_68969488_69065927	69043504	C C	T T	missense_variant missense_variant	MODERATE	HG00544.hp2 HG01074.hp1 HG01109.hp2 others(31): Show HG00544.hp2 HG01074.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01346.hp1 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02451.hp2 HG02559.hp2 HG02630.hp1 HG02647.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03579.hp2 HG04115.hp1 HG06807.hp2 NA18974.hp2 NA18980.hp2 NA18985.hp1 NA18989.hp1 NA18993.hp1 NA19002.hp2 NA19086.hp1 NA19087.hp2 NA20300.hp2	a0004 a0005 a0010 a0004 a0005 a0010	a0004c0005 a0005c0006 a0010c0012 a0004c0005 a0005c0006 a0010c0012	a0004c0005t0003 a0005c0006t0001 a0010c0012t0001 a0004c0005t0003 a0005c0006t0001 a0010c0012t0001	a0004c0005t0003g0001 a0004c0005t0003g0268 a0004c0005t0003g0269 others(26): Show a0004c0005t0003g0001 a0004c0005t0003g0268 a0004c0005t0003g0269 a0004c0005t0003g0270 a0004c0005t0003g0271 a0004c0005t0003g0272 a0004c0005t0003g0274 a0004c0005t0003g0285 a0004c0005t0003g0286 a0004c0005t0003g0287 a0004c0005t0003g0288 a0004c0005t0003g0289 a0004c0005t0003g0290 a0004c0005t0003g0291 a0005c0006t0001g0009 a0005c0006t0001g0275 a0005c0006t0001g0276 a0005c0006t0001g0277 a0005c0006t0001g0278 a0005c0006t0001g0279 a0005c0006t0001g0280 a0005c0006t0001g0281 a0005c0006t0001g0283 a0005c0006t0001g0284 a0005c0006t0001g0292 a0005c0006t0001g0293 a0005c0006t0001g0294 a0010c0012t0001g0273 a0010c0012t0001g0282	34	312	0.1090	c.785 others(3): Show c.785G>A	p.Arg others(6): Show p.Arg262Gln	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	6/39	860/6377	785/4875	262/1624	chr17	TogoVar
ABCA9_chr17_68969488_69065927	69049311	G G	T T	missense_variant missense_variant	MODERATE	HG02145.hp1 HG02258.hp2 HG02622.hp1 others(2): Show HG02145.hp1 HG02258.hp2 HG02622.hp1 HG03041.hp2 NA19240.hp1	a0009 a0011 a0012 others(1): Show a0009 a0011 a0012 a0013	a0009c0011 a0011c0015 a0012c0014 others(1): Show a0009c0011 a0011c0015 a0012c0014 a0013c0016	a0009c0011t0003 a0011c0015t0003 a0012c0014t0003 others(1): Show a0009c0011t0003 a0011c0015t0003 a0012c0014t0003 a0013c0016t0002	a0009c0011t0003g0046 a0009c0011t0003g0047 a0011c0015t0003g0049 others(2): Show a0009c0011t0003g0046 a0009c0011t0003g0047 a0011c0015t0003g0049 a0012c0014t0003g0048 a0013c0016t0002g0050	5	312	0.0160	c.276 others(3): Show c.276C>A	p.Asn others(5): Show p.Asn92Lys	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	3/39	351/6377	276/4875	92/1624	chr17	TogoVar
ABCB10_chr1_229511582_229563707	229518306	T T	C C	missense_variant missense_variant	MODERATE	HG00738.hp2 HG01515.hp1 HG01516.hp1 HG00738.hp2 HG01515.hp1 HG01516.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0008 a0005c0006t0001g0213 a0005c0006t0001g0008 a0005c0006t0001g0213	3	284	0.0106	c.209 others(4): Show c.2090A>G	p.Asn others(6): Show p.Asn697Ser	ABCB10	ENSG00000135776.5	transcript	ENST00000344517.5	protein_coding	13/13	2145/3869	2090/2217	697/738	chr1	TogoVar
ABCB10_chr1_229511582_229563707	229530211	C C	T T	missense_variant missense_variant	MODERATE	HG01256.hp1 HG01258.hp1 HG02895.hp2 HG01256.hp1 HG01258.hp1 HG02895.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0002 a0006c0007t0002	a0006c0007t0002g0059 a0006c0007t0002g0060 a0006c0007t0002g0063 a0006c0007t0002g0059 a0006c0007t0002g0060 a0006c0007t0002g0063	3	284	0.0106	c.163 others(4): Show c.1633G>A	p.Asp others(6): Show p.Asp545Asn	ABCB10	ENSG00000135776.5	transcript	ENST00000344517.5	protein_coding	8/13	1688/3869	1633/2217	545/738	chr1	TogoVar
ABCB10_chr1_229511582_229563707	229531637	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02280.hp1 HG03098.hp1 HG02280.hp1 HG03098.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0003 a0007c0008t0003	a0007c0008t0003g0026 a0007c0008t0003g0027 a0007c0008t0003g0026 a0007c0008t0003g0027	2	284	0.0070	c.143 others(4): Show c.1434C>A	p.Asn others(6): Show p.Asn478Lys	ABCB10	ENSG00000135776.5	transcript	ENST00000344517.5	protein_coding	7/13	1489/3869	1434/2217	478/738	chr1	TogoVar
ABCB10_chr1_229511582_229563707	229539532	C C	T T	missense_variant missense_variant	MODERATE	HG02040.hp2 HG02040.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0154 a0009c0011t0001g0154	1	284	0.0035	c.126 others(4): Show c.1263G>A	p.Met others(6): Show p.Met421Ile	ABCB10	ENSG00000135776.5	transcript	ENST00000344517.5	protein_coding	6/13	1318/3869	1263/2217	421/738	chr1	TogoVar
ABCB10_chr1_229511582_229563707	229558205	C C	A A	missense_variant missense_variant	MODERATE	HG01099.hp1 HG01167.hp1 HG01358.hp2 others(7): Show HG01099.hp1 HG01167.hp1 HG01358.hp2 HG01978.hp1 HG02148.hp1 NA18942.hp1 NA18956.hp1 NA18989.hp2 NA18993.hp2 NA19065.hp1	a0003 a0003	a0003c0004 a0003c0013 a0003c0004 a0003c0013	a0003c0004t0001 a0003c0013t0002 a0003c0004t0001 a0003c0013t0002	a0003c0004t0001g0262 a0003c0004t0001g0263 a0003c0004t0001g0264 others(7): Show a0003c0004t0001g0262 a0003c0004t0001g0263 a0003c0004t0001g0264 a0003c0004t0001g0265 a0003c0004t0001g0266 a0003c0004t0001g0267 a0003c0004t0001g0268 a0003c0004t0001g0269 a0003c0004t0001g0270 a0003c0013t0002g0261	10	284	0.0352	c.448 others(3): Show c.448G>T	p.Ala others(6): Show p.Ala150Ser	ABCB10	ENSG00000135776.5	transcript	ENST00000344517.5	protein_coding	1/13	503/3869	448/2217	150/738	chr1	TogoVar
ABCB10_chr1_229511582_229563707	229558294	C C	A A	missense_variant missense_variant	MODERATE	HG01099.hp2 HG01099.hp2	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0001	a0010c0014t0001g0271 a0010c0014t0001g0271	1	284	0.0035	c.359 others(3): Show c.359G>T	p.Gly others(6): Show p.Gly120Val	ABCB10	ENSG00000135776.5	transcript	ENST00000344517.5	protein_coding	1/13	414/3869	359/2217	120/738	chr1	TogoVar
ABCB10_chr1_229511582_229563707	229558297	G G	A A	missense_variant missense_variant	MODERATE	NA19010.hp2 NA19010.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0001	a0008c0015t0001g0272 a0008c0015t0001g0272	1	284	0.0035	c.356 others(3): Show c.356C>T	p.Pro others(6): Show p.Pro119Leu	ABCB10	ENSG00000135776.5	transcript	ENST00000344517.5	protein_coding	1/13	411/3869	356/2217	119/738	chr1	TogoVar
ABCB10_chr1_229511582_229563707	229558402	A A	G G	missense_variant missense_variant	MODERATE	HG01243.hp1 HG01516.hp2 HG02040.hp1 others(16): Show HG01243.hp1 HG01516.hp2 HG02040.hp1 HG02280.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03579.hp2 NA19240.hp1 NA20129.hp1	a0002 a0007 a0002 a0007	a0002c0003 a0002c0009 a0002c0010 others(1): Show a0002c0003 a0002c0009 a0002c0010 a0007c0008	a0002c0003t0003 a0002c0003t0007 a0002c0009t0003 others(2): Show a0002c0003t0003 a0002c0003t0007 a0002c0009t0003 a0002c0010t0009 a0007c0008t0003	a0002c0003t0003g0016 a0002c0003t0003g0017 a0002c0003t0003g0018 others(16): Show a0002c0003t0003g0016 a0002c0003t0003g0017 a0002c0003t0003g0018 a0002c0003t0003g0019 a0002c0003t0003g0020 a0002c0003t0003g0021 a0002c0003t0003g0022 a0002c0003t0003g0023 a0002c0003t0003g0028 a0002c0003t0003g0030 a0002c0003t0003g0031 a0002c0003t0003g0032 a0002c0003t0003g0033 a0002c0003t0007g0024 a0002c0003t0007g0025 a0002c0009t0003g0029 a0002c0010t0009g0034 a0007c0008t0003g0026 a0007c0008t0003g0027	19	284	0.0669	c.251 others(3): Show c.251T>C	p.Leu others(5): Show p.Leu84Pro	ABCB10	ENSG00000135776.5	transcript	ENST00000344517.5	protein_coding	1/13	306/3869	251/2217	84/738	chr1	TogoVar
ABCB10_chr1_229511582_229563707	229558405	A A	C C	missense_variant missense_variant	MODERATE	HG01106.hp1 HG02451.hp1 HG03130.hp2 others(3): Show HG01106.hp1 HG02451.hp1 HG03130.hp2 HG03225.hp1 HG03471.hp2 NA20300.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0010 a0004c0005t0005g0011 a0004c0005t0005g0012 others(3): Show a0004c0005t0005g0010 a0004c0005t0005g0011 a0004c0005t0005g0012 a0004c0005t0005g0013 a0004c0005t0005g0014 a0004c0005t0005g0015	6	284	0.0211	c.248 others(3): Show c.248T>G	p.Val others(5): Show p.Val83Gly	ABCB10	ENSG00000135776.5	transcript	ENST00000344517.5	protein_coding	1/13	303/3869	248/2217	83/738	chr1	TogoVar
ABCB11_chr2_168915781_169036324	168927218	C C	T T	missense_variant missense_variant	MODERATE	HG02145.hp1 HG02258.hp2 HG02572.hp2 others(2): Show HG02145.hp1 HG02258.hp2 HG02572.hp2 HG02922.hp1 HG03098.hp1	a0006 a0007 a0016 a0006 a0007 a0016	a0006c0037 a0006c0047 a0007c0044 others(2): Show a0006c0037 a0006c0047 a0007c0044 a0007c0053 a0016c0057	a0006c0037t0007 a0006c0047t0007 a0007c0044t0007 others(2): Show a0006c0037t0007 a0006c0047t0007 a0007c0044t0007 a0007c0053t0016 a0016c0057t0016	a0006c0037t0007g0197 a0006c0047t0007g0139 a0007c0044t0007g0086 others(2): Show a0006c0037t0007g0197 a0006c0047t0007g0139 a0007c0044t0007g0086 a0007c0053t0016g0059 a0016c0057t0016g0093	5	306	0.0163	c.355 others(4): Show c.3556G>A	p.Glu others(7): Show p.Glu1186Lys	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	26/28	3683/6934	3556/3966	1186/1321	chr2	TogoVar
ABCB11_chr2_168915781_169036324	168944621	G G	A A	missense_variant missense_variant	MODERATE	HG00558.hp1 NA18978.hp2 NA19087.hp2 HG00558.hp1 NA18978.hp2 NA19087.hp2	a0008 a0012 a0008 a0012	a0008c0032 a0008c0045 a0012c0029 a0008c0032 a0008c0045 a0012c0029	a0008c0032t0001 a0008c0045t0001 a0012c0029t0001 a0008c0032t0001 a0008c0045t0001 a0012c0029t0001	a0008c0032t0001g0204 a0008c0045t0001g0072 a0012c0029t0001g0108 a0008c0032t0001g0204 a0008c0045t0001g0072 a0012c0029t0001g0108	3	306	0.0098	c.259 others(4): Show c.2594C>T	p.Ala others(6): Show p.Ala865Val	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	21/28	2721/6934	2594/3966	865/1321	chr2	TogoVar
ABCB11_chr2_168915781_169036324	168964234	T T	C C	missense_variant missense_variant	MODERATE	NA18994.hp2 NA18994.hp2	a0013 a0013	a0013c0040 a0013c0040	a0013c0040t0001 a0013c0040t0001	a0013c0040t0001g0259 a0013c0040t0001g0259	1	306	0.0033	c.215 others(4): Show c.2150A>G	p.His others(6): Show p.His717Arg	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	18/28	2277/6934	2150/3966	717/1321	chr2	TogoVar
ABCB11_chr2_168915781_169036324	168964283	A A	G G	missense_variant missense_variant	MODERATE	HG02559.hp2 HG02559.hp2	a0015 a0015	a0015c0042 a0015c0042	a0015c0042t0005 a0015c0042t0005	a0015c0042t0005g0032 a0015c0042t0005g0032	1	306	0.0033	c.210 others(4): Show c.2101T>C	p.Ser others(6): Show p.Ser701Pro	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	18/28	2228/6934	2101/3966	701/1321	chr2	TogoVar
ABCB11_chr2_168915781_169036324	168968466	G G	A A	missense_variant missense_variant	MODERATE	HG04115.hp1 HG04115.hp1	a0014 a0014	a0014c0041 a0014c0041	a0014c0041t0001 a0014c0041t0001	a0014c0041t0001g0191 a0014c0041t0001g0191	1	306	0.0033	c.203 others(4): Show c.2036C>T	p.Ala others(6): Show p.Ala679Val	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	17/28	2163/6934	2036/3966	679/1321	chr2	TogoVar
ABCB11_chr2_168915781_169036324	168968473	T T	C C	missense_variant missense_variant	MODERATE	HG00323.hp2 HG00733.hp2 HG01496.hp2 others(23): Show HG00323.hp2 HG00733.hp2 HG01496.hp2 HG01884.hp2 HG02055.hp2 HG02257.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02683.hp2 HG02723.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03453.hp1 HG03486.hp2 HG06807.hp2 NA19043.hp1 NA19240.hp2 NA20300.hp2	a0003 a0004 a0015 others(1): Show a0003 a0004 a0015 a0016	a0003c0013 a0003c0014 a0003c0017 others(12): Show a0003c0013 a0003c0014 a0003c0017 a0003c0018 a0003c0024 a0003c0043 a0003c0050 a0003c0051 a0003c0064 a0004c0009 a0004c0023 a0004c0046 a0004c0058 a0015c0042 a0016c0057	a0003c0013t0001 a0003c0014t0005 a0003c0014t0006 others(18): Show a0003c0013t0001 a0003c0014t0005 a0003c0014t0006 a0003c0017t0004 a0003c0017t0009 a0003c0018t0011 a0003c0018t0036 a0003c0024t0004 a0003c0043t0006 a0003c0050t0009 a0003c0051t0001 a0003c0064t0011 a0004c0009t0004 a0004c0009t0005 a0004c0009t0007 a0004c0009t0022 a0004c0023t0001 a0004c0046t0003 a0004c0058t0001 a0015c0042t0005 a0016c0057t0016	a0003c0013t0001g0016 a0003c0013t0001g0027 a0003c0013t0001g0088 others(23): Show a0003c0013t0001g0016 a0003c0013t0001g0027 a0003c0013t0001g0088 a0003c0014t0005g0089 a0003c0014t0005g0091 a0003c0014t0006g0090 a0003c0017t0004g0013 a0003c0017t0009g0012 a0003c0018t0011g0034 a0003c0018t0036g0224 a0003c0024t0004g0228 a0003c0024t0004g0229 a0003c0043t0006g0033 a0003c0050t0009g0100 a0003c0051t0001g0011 a0003c0064t0011g0230 a0004c0009t0004g0101 a0004c0009t0005g0095 a0004c0009t0007g0094 a0004c0009t0022g0092 a0004c0023t0001g0096 a0004c0023t0001g0097 a0004c0046t0003g0015 a0004c0058t0001g0098 a0015c0042t0005g0032 a0016c0057t0016g0093	26	306	0.0850	c.202 others(4): Show c.2029A>G	p.Met others(6): Show p.Met677Val	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	17/28	2156/6934	2029/3966	677/1321	chr2	TogoVar
ABCB11_chr2_168915781_169036324	168970082	T T	C C	missense_variant missense_variant	MODERATE	HG02129.hp2 HG03017.hp2 HG03490.hp1 others(3): Show HG02129.hp2 HG03017.hp2 HG03490.hp1 HG03831.hp2 HG04228.hp1 HG04228.hp2	a0005 a0005	a0005c0011 a0005c0021 a0005c0068 a0005c0011 a0005c0021 a0005c0068	a0005c0011t0002 a0005c0021t0001 a0005c0068t0001 a0005c0011t0002 a0005c0021t0001 a0005c0068t0001	a0005c0011t0002g0151 a0005c0011t0002g0153 a0005c0011t0002g0178 others(3): Show a0005c0011t0002g0151 a0005c0011t0002g0153 a0005c0011t0002g0178 a0005c0021t0001g0121 a0005c0021t0001g0147 a0005c0068t0001g0232	6	306	0.0196	c.177 others(4): Show c.1772A>G	p.Asn others(6): Show p.Asn591Ser	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	15/28	1899/6934	1772/3966	591/1321	chr2	TogoVar
ABCB11_chr2_168915781_169036324	168973818	A A	G G	missense_variant missense_variant	MODERATE	HG00280.hp1 HG00323.hp1 HG00438.hp1 others(182): Show HG00280.hp1 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01169.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01978.hp1 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18952.hp2 NA18959.hp2 NA18961.hp2 NA18965.hp1 NA18965.hp2 NA18969.hp2 NA18970.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18986.hp2 NA18987.hp1 NA18991.hp1 NA18991.hp2 NA18994.hp2 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19078.hp1 NA19078.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19240.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 others(5): Show a0001 a0003 a0006 a0009 a0012 a0013 a0014 a0015	a0001c0001 a0001c0002 a0001c0005 others(32): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0007 a0001c0015 a0001c0016 a0001c0022 a0001c0026 a0001c0030 a0001c0036 a0001c0038 a0001c0039 a0001c0048 a0001c0049 a0001c0062 a0001c0063 a0001c0066 a0003c0013 a0003c0014 a0003c0017 a0003c0018 a0003c0024 a0003c0043 a0003c0050 a0003c0051 a0003c0064 a0006c0037 a0006c0047 a0009c0059 a0009c0060 a0012c0029 a0013c0040 a0014c0041 a0015c0042	a0001c0001t0001 a0001c0001t0010 a0001c0001t0013 others(58): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0020 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0012 a0001c0002t0015 a0001c0002t0019 a0001c0002t0021 a0001c0002t0025 a0001c0002t0027 a0001c0005t0001 a0001c0005t0010 a0001c0005t0017 a0001c0005t0030 a0001c0006t0002 a0001c0006t0034 a0001c0007t0001 a0001c0015t0002 a0001c0015t0009 a0001c0016t0008 a0001c0016t0033 a0001c0022t0001 a0001c0026t0001 a0001c0030t0002 a0001c0036t0003 a0001c0038t0006 a0001c0039t0008 a0001c0048t0007 a0001c0049t0006 a0001c0062t0004 a0001c0063t0001 a0001c0066t0004 a0003c0013t0001 a0003c0014t0005 a0003c0014t0006 a0003c0017t0004 a0003c0017t0009 a0003c0018t0011 a0003c0018t0036 a0003c0024t0004 a0003c0043t0006 a0003c0050t0009 a0003c0051t0001 a0003c0064t0011 a0006c0037t0007 a0006c0047t0007 a0009c0059t0004 a0009c0060t0006 a0012c0029t0001 a0013c0040t0001 a0014c0041t0001 a0015c0042t0005	a0001c0001t0001g0048 a0001c0001t0001g0073 a0001c0001t0001g0074 others(181): Show a0001c0001t0001g0048 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0109 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0198 a0001c0001t0001g0209 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0010g0137 a0001c0001t0010g0240 a0001c0001t0013g0122 a0001c0001t0013g0258 a0001c0001t0014g0182 a0001c0001t0017g0158 a0001c0001t0020g0273 a0001c0002t0002g0069 a0001c0002t0002g0085 a0001c0002t0002g0128 a0001c0002t0002g0136 a0001c0002t0002g0159 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0179 a0001c0002t0002g0186 a0001c0002t0002g0210 a0001c0002t0002g0251 a0001c0002t0002g0261 a0001c0002t0002g0263 a0001c0002t0002g0265 a0001c0002t0002g0269 a0001c0002t0002g0274 a0001c0002t0003g0119 a0001c0002t0003g0123 a0001c0002t0003g0127 a0001c0002t0003g0130 a0001c0002t0003g0143 a0001c0002t0003g0148 a0001c0002t0003g0150 a0001c0002t0003g0152 a0001c0002t0003g0168 a0001c0002t0003g0169 a0001c0002t0003g0206 a0001c0002t0003g0211 a0001c0002t0003g0247 a0001c0002t0003g0276 a0001c0002t0004g0110 a0001c0002t0004g0132 a0001c0002t0004g0134 a0001c0002t0004g0135 a0001c0002t0004g0185 a0001c0002t0004g0187 a0001c0002t0004g0192 a0001c0002t0004g0266 a0001c0002t0005g0126 a0001c0002t0005g0157 a0001c0002t0005g0162 a0001c0002t0005g0212 a0001c0002t0005g0254 a0001c0002t0006g0177 a0001c0002t0006g0196 a0001c0002t0006g0215 a0001c0002t0007g0131 a0001c0002t0007g0249 a0001c0002t0009g0144 a0001c0002t0012g0156 a0001c0002t0015g0003 a0001c0002t0015g0207 a0001c0002t0019g0004 a0001c0002t0021g0133 a0001c0002t0025g0214 a0001c0002t0027g0129 a0001c0005t0001g0105 a0001c0005t0001g0117 a0001c0005t0001g0118 a0001c0005t0001g0203 a0001c0005t0001g0205 a0001c0005t0001g0208 a0001c0005t0010g0104 a0001c0005t0017g0005 a0001c0005t0030g0106 a0001c0006t0002g0103 a0001c0006t0002g0107 a0001c0006t0002g0111 a0001c0006t0002g0112 a0001c0006t0002g0113 a0001c0006t0002g0115 a0001c0006t0002g0138 a0001c0006t0034g0114 a0001c0007t0001g0282 a0001c0007t0001g0285 a0001c0007t0001g0289 a0001c0007t0001g0291 a0001c0007t0001g0293 a0001c0007t0001g0297 a0001c0015t0002g0290 a0001c0015t0009g0292 a0001c0016t0008g0295 a0001c0016t0033g0294 a0001c0022t0001g0019 a0001c0022t0001g0020 a0001c0026t0001g0280 a0001c0026t0001g0281 a0001c0030t0002g0116 a0001c0036t0003g0244 a0001c0038t0006g0190 a0001c0039t0008g0301 a0001c0048t0007g0017 a0001c0049t0006g0018 a0001c0062t0004g0227 a0001c0063t0001g0226 a0001c0066t0004g0279 a0003c0013t0001g0016 a0003c0013t0001g0027 a0003c0013t0001g0088 a0003c0014t0005g0089 a0003c0014t0005g0091 a0003c0014t0006g0090 a0003c0017t0004g0013 a0003c0017t0009g0012 a0003c0018t0011g0034 a0003c0018t0036g0224 a0003c0024t0004g0228 a0003c0024t0004g0229 a0003c0043t0006g0033 a0003c0050t0009g0100 a0003c0051t0001g0011 a0003c0064t0011g0230 a0006c0037t0007g0197 a0006c0047t0007g0139 a0009c0059t0004g0200 a0009c0060t0006g0199 a0012c0029t0001g0108 a0013c0040t0001g0259 a0014c0041t0001g0191 a0015c0042t0005g0032	185	306	0.6046	c.133 others(4): Show c.1331T>C	p.Val others(6): Show p.Val444Ala	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	13/28	1458/6934	1331/3966	444/1321	chr2	TogoVar
ABCB11_chr2_168915781_169036324	168990813	C C	T T	missense_variant missense_variant	MODERATE	NA18953.hp2 NA18953.hp2	a0011 a0011	a0011c0034 a0011c0034	a0011c0034t0001 a0011c0034t0001	a0011c0034t0001g0287 a0011c0034t0001g0287	1	306	0.0033	c.896 others(3): Show c.896G>A	p.Arg others(6): Show p.Arg299Lys	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	9/28	1023/6934	896/3966	299/1321	chr2	TogoVar
ABCB11_chr2_168915781_169036324	168993878	T T	C C	missense_variant missense_variant	MODERATE	HG02258.hp1 HG03130.hp1 HG02258.hp1 HG03130.hp1	a0009 a0009	a0009c0059 a0009c0060 a0009c0059 a0009c0060	a0009c0059t0004 a0009c0060t0006 a0009c0059t0004 a0009c0060t0006	a0009c0059t0004g0200 a0009c0060t0006g0199 a0009c0059t0004g0200 a0009c0060t0006g0199	2	306	0.0065	c.616 others(3): Show c.616A>G	p.Ile others(6): Show p.Ile206Val	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	8/28	743/6934	616/3966	206/1321	chr2	TogoVar
ABCB11_chr2_168915781_169036324	169013278	C C	T T	missense_variant missense_variant	MODERATE	HG01361.hp1 HG01361.hp1	a0010 a0010	a0010c0035 a0010c0035	a0010c0035t0001 a0010c0035t0001	a0010c0035t0001g0060 a0010c0035t0001g0060	1	306	0.0033	c.383 others(3): Show c.383G>A	p.Arg others(6): Show p.Arg128His	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	5/28	510/6934	383/3966	128/1321	chr2	TogoVar
ABCB1_chr7_87498017_87605884	87504251	G G	A A	missense_variant missense_variant	MODERATE	HG02970.hp2 HG02970.hp2	a0015 a0015	a0015c0021 a0015c0021	a0015c0021t0001 a0015c0021t0001	a0015c0021t0001g0308 a0015c0021t0001g0308	1	352	0.0028	c.383 others(4): Show c.3835C>T	p.Arg others(7): Show p.Arg1279Cys	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	28/28	3971/5205	3835/3843	1279/1280	chr7	TogoVar
ABCB1_chr7_87498017_87605884	87504335	C C	T T	missense_variant missense_variant	MODERATE	HG01261.hp2 HG01928.hp1 NA18955.hp1 others(1): Show HG01261.hp2 HG01928.hp1 NA18955.hp1 NA19091.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0187 a0005c0008t0001g0199 a0005c0008t0001g0215 others(1): Show a0005c0008t0001g0187 a0005c0008t0001g0199 a0005c0008t0001g0215 a0005c0008t0001g0217	4	352	0.0114	c.375 others(4): Show c.3751G>A	p.Val others(7): Show p.Val1251Ile	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	28/28	3887/5205	3751/3843	1251/1280	chr7	TogoVar
ABCB1_chr7_87498017_87605884	87504389	G G	A A	missense_variant missense_variant	MODERATE	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0014 a0014	a0014c0023 a0014c0023	a0014c0023t0001 a0014c0023t0001	a0014c0023t0001g0106 a0014c0023t0001g0106	1	352	0.0028	c.369 others(4): Show c.3697C>T	p.Arg others(7): Show p.Arg1233Cys	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	28/28	3833/5205	3697/3843	1233/1280	chr7	TogoVar
ABCB1_chr7_87498017_87605884	87509343	A A	T T	missense_variant missense_variant	MODERATE	HG00639.hp1 HG02109.hp1 HG02572.hp1 others(2): Show HG00639.hp1 HG02109.hp1 HG02572.hp1 HG02647.hp1 HG02886.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0003 a0004c0007t0008 a0004c0007t0001 a0004c0007t0003 a0004c0007t0008	a0004c0007t0001g0102 a0004c0007t0001g0258 a0004c0007t0003g0033 others(2): Show a0004c0007t0001g0102 a0004c0007t0001g0258 a0004c0007t0003g0033 a0004c0007t0008g0334 a0004c0007t0008g0335	5	352	0.0142	c.342 others(4): Show c.3421T>A	p.Ser others(7): Show p.Ser1141Thr	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	26/28	3557/5205	3421/3843	1141/1280	chr7	TogoVar
ABCB1_chr7_87498017_87605884	87509442	A A	G G	missense_variant missense_variant	MODERATE	HG03098.hp2 HG03098.hp2	a0012 a0012	a0012c0026 a0012c0026	a0012c0026t0014 a0012c0026t0014	a0012c0026t0014g0010 a0012c0026t0014g0010	1	352	0.0028	c.332 others(4): Show c.3322T>C	p.Trp others(7): Show p.Trp1108Arg	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	26/28	3458/5205	3322/3843	1108/1280	chr7	TogoVar
ABCB1_chr7_87498017_87605884	87509444	T T	G G	missense_variant missense_variant	MODERATE	HG01258.hp2 HG01258.hp2	a0016 a0016	a0016c0028 a0016c0028	a0016c0028t0001 a0016c0028t0001	a0016c0028t0001g0147 a0016c0028t0001g0147	1	352	0.0028	c.332 others(4): Show c.3320A>C	p.Gln others(7): Show p.Gln1107Pro	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	26/28	3456/5205	3320/3843	1107/1280	chr7	TogoVar
ABCB1_chr7_87498017_87605884	87515251	C C	T T	missense_variant missense_variant	MODERATE	HG02145.hp1 HG03195.hp1 HG02145.hp1 HG03195.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0189 a0010c0013t0001g0262 a0010c0013t0001g0189 a0010c0013t0001g0262	2	352	0.0057	c.326 others(4): Show c.3262G>A	p.Asp others(7): Show p.Asp1088Asn	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	25/28	3398/5205	3262/3843	1088/1280	chr7	TogoVar
ABCB1_chr7_87498017_87605884	87519444	T T	G G	missense_variant missense_variant	MODERATE	HG01496.hp1 HG01496.hp1	a0017 a0017	a0017c0029 a0017c0029	a0017c0029t0002 a0017c0029t0002	a0017c0029t0002g0130 a0017c0029t0002g0130	1	352	0.0028	c.280 others(4): Show c.2809A>C	p.Ile others(6): Show p.Ile937Leu	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	23/28	2945/5205	2809/3843	937/1280	chr7	TogoVar
ABCB1_chr7_87498017_87605884	87531302	A A	C C	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(234): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18946.hp1 NA18948.hp2 NA18949.hp2 NA18952.hp1 NA18955.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18977.hp2 NA18979.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18991.hp1 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp2 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(10): Show a0001 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0019	a0001c0001 a0001c0003 a0001c0005 others(18): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0018 a0001c0022 a0001c0025 a0004c0007 a0005c0008 a0006c0012 a0006c0017 a0007c0011 a0009c0030 a0009c0031 a0010c0013 a0011c0027 a0012c0026 a0013c0019 a0014c0023 a0015c0021 a0019c0032	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(45): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0009 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0005 a0001c0005t0007 a0001c0005t0016 a0001c0006t0001 a0001c0006t0003 a0001c0006t0004 a0001c0018t0017 a0001c0022t0001 a0001c0025t0001 a0004c0007t0001 a0004c0007t0003 a0004c0007t0008 a0005c0008t0001 a0006c0012t0001 a0006c0017t0002 a0007c0011t0001 a0009c0030t0001 a0009c0031t0002 a0010c0013t0001 a0011c0027t0001 a0012c0026t0014 a0013c0019t0009 a0014c0023t0001 a0015c0021t0001 a0019c0032t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0051 others(227): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0250 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0331 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0138 a0001c0001t0002g0216 a0001c0001t0002g0240 a0001c0001t0002g0274 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0003g0001 a0001c0001t0003g0018 a0001c0001t0003g0020 a0001c0001t0003g0024 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0004g0006 a0001c0001t0004g0049 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0100 a0001c0001t0004g0182 a0001c0001t0004g0259 a0001c0001t0004g0264 a0001c0001t0004g0296 a0001c0001t0004g0330 a0001c0001t0005g0034 a0001c0001t0006g0058 a0001c0001t0006g0059 a0001c0001t0006g0061 a0001c0001t0006g0066 a0001c0001t0006g0238 a0001c0001t0006g0263 a0001c0001t0007g0078 a0001c0001t0008g0055 a0001c0001t0008g0097 a0001c0001t0008g0098 a0001c0001t0009g0267 a0001c0001t0010g0026 a0001c0001t0010g0035 a0001c0001t0011g0249 a0001c0001t0015g0028 a0001c0001t0018g0281 a0001c0001t0019g0312 a0001c0001t0021g0342 a0001c0001t0022g0343 a0001c0003t0001g0109 a0001c0003t0001g0135 a0001c0003t0001g0157 a0001c0003t0001g0161 a0001c0003t0001g0164 a0001c0003t0001g0218 a0001c0003t0001g0219 a0001c0003t0001g0220 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0223 a0001c0003t0001g0224 a0001c0003t0001g0225 a0001c0003t0001g0226 a0001c0003t0001g0230 a0001c0003t0001g0231 a0001c0003t0001g0232 a0001c0003t0001g0233 a0001c0003t0001g0234 a0001c0003t0001g0247 a0001c0003t0001g0248 a0001c0003t0001g0254 a0001c0003t0001g0319 a0001c0003t0002g0142 a0001c0003t0002g0227 a0001c0003t0002g0228 a0001c0003t0002g0229 a0001c0003t0002g0243 a0001c0003t0002g0244 a0001c0003t0002g0245 a0001c0003t0002g0252 a0001c0003t0002g0255 a0001c0003t0006g0062 a0001c0003t0006g0081 a0001c0003t0009g0113 a0001c0005t0001g0126 a0001c0005t0001g0131 a0001c0005t0001g0196 a0001c0005t0001g0209 a0001c0005t0001g0210 a0001c0005t0001g0211 a0001c0005t0001g0276 a0001c0005t0001g0285 a0001c0005t0001g0286 a0001c0005t0001g0293 a0001c0005t0001g0304 a0001c0005t0001g0315 a0001c0005t0001g0329 a0001c0005t0002g0300 a0001c0005t0003g0002 a0001c0005t0005g0021 a0001c0005t0005g0025 a0001c0005t0007g0003 a0001c0005t0007g0076 a0001c0005t0007g0079 a0001c0005t0016g0096 a0001c0006t0001g0104 a0001c0006t0001g0235 a0001c0006t0003g0023 a0001c0006t0004g0009 a0001c0006t0004g0103 a0001c0006t0004g0328 a0001c0018t0017g0039 a0001c0022t0001g0268 a0001c0025t0001g0122 a0004c0007t0001g0102 a0004c0007t0001g0258 a0004c0007t0003g0033 a0004c0007t0008g0334 a0004c0007t0008g0335 a0005c0008t0001g0187 a0005c0008t0001g0199 a0005c0008t0001g0215 a0005c0008t0001g0217 a0006c0012t0001g0271 a0006c0012t0001g0273 a0006c0017t0002g0272 a0007c0011t0001g0092 a0007c0011t0001g0093 a0007c0011t0001g0094 a0009c0030t0001g0242 a0009c0031t0002g0241 a0010c0013t0001g0189 a0010c0013t0001g0262 a0011c0027t0001g0280 a0012c0026t0014g0010 a0013c0019t0009g0237 a0014c0023t0001g0106 a0015c0021t0001g0308 a0019c0032t0001g0110	237	352	0.6733	c.267 others(4): Show c.2677T>G	p.Ser others(6): Show p.Ser893Ala	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	21/28	2813/5205	2677/3843	893/1280	chr7	TogoVar
ABCB1_chr7_87498017_87605884	87531302	A A	T T	missense_variant missense_variant	MODERATE	HG00423.hp2 HG01123.hp2 HG01192.hp1 others(33): Show HG00423.hp2 HG01123.hp2 HG01192.hp1 HG01358.hp2 HG01496.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG02129.hp2 HG02155.hp2 HG03654.hp1 HG03834.hp1 NA18940.hp1 NA18948.hp1 NA18952.hp2 NA18955.hp2 NA18963.hp2 NA18964.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18977.hp1 NA18979.hp2 NA18988.hp2 NA18990.hp2 NA18992.hp1 NA18994.hp2 NA19001.hp1 NA19003.hp1 NA19005.hp2 NA19056.hp2 NA19063.hp2 NA19082.hp2 NA19083.hp1 NA19088.hp2 NA19091.hp2	a0003 a0018 a0003 a0018	a0003c0004 a0003c0020 a0018c0016 a0003c0004 a0003c0020 a0018c0016	a0003c0004t0001 a0003c0004t0002 a0003c0004t0005 others(4): Show a0003c0004t0001 a0003c0004t0002 a0003c0004t0005 a0003c0004t0012 a0003c0004t0020 a0003c0020t0001 a0018c0016t0001	a0003c0004t0001g0044 a0003c0004t0001g0071 a0003c0004t0002g0041 others(33): Show a0003c0004t0001g0044 a0003c0004t0001g0071 a0003c0004t0002g0041 a0003c0004t0002g0043 a0003c0004t0002g0045 a0003c0004t0002g0046 a0003c0004t0002g0047 a0003c0004t0002g0048 a0003c0004t0002g0050 a0003c0004t0002g0052 a0003c0004t0002g0053 a0003c0004t0002g0054 a0003c0004t0002g0064 a0003c0004t0002g0067 a0003c0004t0002g0069 a0003c0004t0002g0072 a0003c0004t0002g0075 a0003c0004t0002g0107 a0003c0004t0002g0134 a0003c0004t0002g0174 a0003c0004t0002g0251 a0003c0004t0002g0270 a0003c0004t0005g0011 a0003c0004t0005g0012 a0003c0004t0005g0013 a0003c0004t0005g0014 a0003c0004t0005g0015 a0003c0004t0005g0016 a0003c0004t0005g0017 a0003c0004t0005g0019 a0003c0004t0005g0022 a0003c0004t0012g0132 a0003c0004t0012g0133 a0003c0004t0020g0057 a0003c0020t0001g0042 a0018c0016t0001g0040	36	352	0.1023	c.267 others(4): Show c.2677T>A	p.Ser others(6): Show p.Ser893Thr	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	21/28	2813/5205	2677/3843	893/1280	chr7	TogoVar
ABCB1_chr7_87498017_87605884	87531358	A A	G G	missense_variant missense_variant	MODERATE	HG03516.hp1 HG03516.hp1	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0009 a0013c0019t0009	a0013c0019t0009g0237 a0013c0019t0009g0237	1	352	0.0028	c.262 others(4): Show c.2621T>C	p.Val others(6): Show p.Val874Ala	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	21/28	2757/5205	2621/3843	874/1280	chr7	TogoVar
ABCB1_chr7_87498017_87605884	87539281	G G	C C	missense_variant missense_variant	MODERATE	NA18612.hp2 NA19011.hp1 NA18612.hp2 NA19011.hp1	a0009 a0009	a0009c0030 a0009c0031 a0009c0030 a0009c0031	a0009c0030t0001 a0009c0031t0002 a0009c0030t0001 a0009c0031t0002	a0009c0030t0001g0242 a0009c0031t0002g0241 a0009c0030t0001g0242 a0009c0031t0002g0241	2	352	0.0057	c.238 others(4): Show c.2384C>G	p.Ser others(6): Show p.Ser795Cys	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	19/28	2520/5205	2384/3843	795/1280	chr7	TogoVar
ABCB1_chr7_87498017_87605884	87544882	G G	A A	missense_variant missense_variant	MODERATE	HG03098.hp2 HG03098.hp2	a0012 a0012	a0012c0026 a0012c0026	a0012c0026t0014 a0012c0026t0014	a0012c0026t0014g0010 a0012c0026t0014g0010	1	352	0.0028	c.200 others(4): Show c.2005C>T	p.Arg others(6): Show p.Arg669Cys	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	16/28	2141/5205	2005/3843	669/1280	chr7	TogoVar
ABCB1_chr7_87498017_87605884	87545988	G G	A A	missense_variant missense_variant	MODERATE	HG04184.hp2 HG04184.hp2	a0011 a0011	a0011c0027 a0011c0027	a0011c0027t0001 a0011c0027t0001	a0011c0027t0001g0280 a0011c0027t0001g0280	1	352	0.0028	c.176 others(4): Show c.1762C>T	p.Arg others(6): Show p.Arg588Cys	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	15/28	1898/5205	1762/3843	588/1280	chr7	TogoVar
ABCB1_chr7_87498017_87605884	87550493	C C	T T	missense_variant missense_variant	MODERATE	HG00741.hp1 HG01106.hp1 HG01109.hp1 HG00741.hp1 HG01106.hp1 HG01109.hp1	a0006 a0006	a0006c0012 a0006c0017 a0006c0012 a0006c0017	a0006c0012t0001 a0006c0017t0002 a0006c0012t0001 a0006c0017t0002	a0006c0012t0001g0271 a0006c0012t0001g0273 a0006c0017t0002g0272 a0006c0012t0001g0271 a0006c0012t0001g0273 a0006c0017t0002g0272	3	352	0.0085	c.119 others(4): Show c.1199G>A	p.Ser others(6): Show p.Ser400Asn	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	11/28	1335/5205	1199/3843	400/1280	chr7	TogoVar
ABCB1_chr7_87498017_87605884	87561309	T T	C C	missense_variant missense_variant	MODERATE	HG02647.hp2 HG03540.hp2 HG06807.hp1 HG02647.hp2 HG03540.hp2 HG06807.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0092 a0007c0011t0001g0093 a0007c0011t0001g0094 a0007c0011t0001g0092 a0007c0011t0001g0093 a0007c0011t0001g0094	3	352	0.0085	c.781 others(3): Show c.781A>G	p.Ile others(6): Show p.Ile261Val	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	8/28	917/5205	781/3843	261/1280	chr7	TogoVar

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