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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Select column to sort.

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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
ANKK1_chr11_113382779_113405416	113399438	A A	G G	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00639.hp2 HG00642.hp2 others(72): Show HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG01934.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02109.hp2 HG02451.hp1 HG03453.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03710.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 NA18522.hp1 NA18906.hp1 NA18939.hp2 NA18960.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA19000.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19055.hp2 NA19057.hp1 NA19074.hp1 NA19079.hp1 NA19083.hp2 NA19086.hp1 NA19087.hp2 NA19091.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0003 a0009 a0011 others(2): Show a0003 a0009 a0011 a0018 a0022	a0003c0003 a0003c0025 a0003c0034 others(4): Show a0003c0003 a0003c0025 a0003c0034 a0009c0011 a0011c0013 a0018c0018 a0022c0027	a0003c0003t0001 a0003c0025t0001 a0003c0034t0001 others(4): Show a0003c0003t0001 a0003c0025t0001 a0003c0034t0001 a0009c0011t0001 a0011c0013t0001 a0018c0018t0001 a0022c0027t0001	a0003c0003t0001g0003 a0003c0003t0001g0010 a0003c0003t0001g0012 others(18): Show a0003c0003t0001g0003 a0003c0003t0001g0010 a0003c0003t0001g0012 a0003c0003t0001g0017 a0003c0003t0001g0026 a0003c0003t0001g0039 a0003c0003t0001g0043 a0003c0003t0001g0045 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0048 a0003c0003t0001g0049 a0003c0003t0001g0051 a0003c0003t0001g0052 a0003c0025t0001g0050 a0003c0034t0001g0060 a0009c0011t0001g0014 a0011c0013t0001g0003 a0018c0018t0001g0053 a0018c0018t0001g0054 a0022c0027t0001g0044	75	400	0.1875	c.146 others(4): Show c.1469A>G	p.His others(6): Show p.His490Arg	ANKK1	ENSG00000170209.5	transcript	ENST00000303941.4	protein_coding	8/8	1575/2553	1469/2298	490/765	chr11	TogoVar
ANKK1_chr11_113382779_113405416	113399456	C C	A A	missense_variant missense_variant	MODERATE	HG03654.hp1 HG03654.hp1	a0025 a0025	a0025c0037 a0025c0037	a0025c0037t0001 a0025c0037t0001	a0025c0037t0001g0073 a0025c0037t0001g0073	1	400	0.0025	c.148 others(4): Show c.1487C>A	p.Thr others(6): Show p.Thr496Asn	ANKK1	ENSG00000170209.5	transcript	ENST00000303941.4	protein_coding	8/8	1593/2553	1487/2298	496/765	chr11	TogoVar
ANKK1_chr11_113382779_113405416	113399647	G G	A A	missense_variant missense_variant	MODERATE	NA18979.hp1 NA19062.hp1 NA19064.hp2 others(1): Show NA18979.hp1 NA19062.hp1 NA19064.hp2 NA19067.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0001	a0010c0014t0001g0002 a0010c0014t0001g0002	4	400	0.0100	c.167 others(4): Show c.1678G>A	p.Gly others(6): Show p.Gly560Ser	ANKK1	ENSG00000170209.5	transcript	ENST00000303941.4	protein_coding	8/8	1784/2553	1678/2298	560/765	chr11	TogoVar
ANKK1_chr11_113382779_113405416	113399756	C C	T T	missense_variant missense_variant	MODERATE	HG02717.hp2 HG02717.hp2	a0024 a0024	a0024c0038 a0024c0038	a0024c0038t0001 a0024c0038t0001	a0024c0038t0001g0085 a0024c0038t0001g0085	1	400	0.0025	c.178 others(4): Show c.1787C>T	p.Pro others(6): Show p.Pro596Leu	ANKK1	ENSG00000170209.5	transcript	ENST00000303941.4	protein_coding	8/8	1893/2553	1787/2298	596/765	chr11	TogoVar
ANKK1_chr11_113382779_113405416	113399977	A A	G G	missense_variant missense_variant	MODERATE	HG01243.hp1 HG01516.hp2 HG01517.hp2 others(16): Show HG01243.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG02055.hp1 HG02257.hp2 HG02258.hp1 HG02486.hp1 HG02622.hp2 HG02630.hp1 HG02738.hp1 HG02896.hp2 HG02897.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03654.hp1 NA20300.hp1 NA21309.hp1	a0004 a0012 a0014 others(2): Show a0004 a0012 a0014 a0019 a0025	a0004c0005 a0012c0015 a0014c0016 others(2): Show a0004c0005 a0012c0015 a0014c0016 a0019c0023 a0025c0037	a0004c0005t0001 a0012c0015t0001 a0014c0016t0001 others(2): Show a0004c0005t0001 a0012c0015t0001 a0014c0016t0001 a0019c0023t0001 a0025c0037t0001	a0004c0005t0001g0007 a0012c0015t0001g0035 a0012c0015t0001g0036 others(4): Show a0004c0005t0001g0007 a0012c0015t0001g0035 a0012c0015t0001g0036 a0014c0016t0001g0028 a0014c0016t0001g0074 a0019c0023t0001g0040 a0025c0037t0001g0073	19	400	0.0475	c.200 others(4): Show c.2008A>G	p.Ser others(6): Show p.Ser670Gly	ANKK1	ENSG00000170209.5	transcript	ENST00000303941.4	protein_coding	8/8	2114/2553	2008/2298	670/765	chr11	TogoVar
ANKK1_chr11_113382779_113405416	113400106	G G	A A	missense_variant missense_variant	MODERATE	HG00408.hp1 HG00423.hp1 HG00544.hp2 others(127): Show HG00408.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01346.hp1 HG01516.hp2 HG01517.hp2 HG01978.hp1 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02129.hp2 HG02132.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03017.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03688.hp2 HG03927.hp1 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18944.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp2 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18991.hp1 NA18993.hp2 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19006.hp1 NA19011.hp1 NA19030.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19077.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19089.hp2 NA19090.hp1 NA20129.hp1 NA20905.hp2 NA21309.hp1	a0002 a0004 a0005 others(11): Show a0002 a0004 a0005 a0007 a0009 a0012 a0013 a0014 a0015 a0017 a0018 a0025 a0027 a0028	a0002c0002 a0002c0012 a0002c0024 others(14): Show a0002c0002 a0002c0012 a0002c0024 a0002c0032 a0004c0005 a0005c0006 a0007c0007 a0009c0011 a0012c0015 a0013c0017 a0014c0016 a0015c0022 a0017c0019 a0018c0018 a0025c0037 a0027c0030 a0028c0029	a0002c0002t0001 a0002c0012t0001 a0002c0024t0001 others(14): Show a0002c0002t0001 a0002c0012t0001 a0002c0024t0001 a0002c0032t0001 a0004c0005t0001 a0005c0006t0001 a0007c0007t0001 a0009c0011t0001 a0012c0015t0001 a0013c0017t0001 a0014c0016t0001 a0015c0022t0001 a0017c0019t0001 a0018c0018t0001 a0025c0037t0001 a0027c0030t0001 a0028c0029t0001	a0002c0002t0001g0001 a0002c0002t0001g0011 a0002c0002t0001g0020 others(33): Show a0002c0002t0001g0001 a0002c0002t0001g0011 a0002c0002t0001g0020 a0002c0002t0001g0027 a0002c0002t0001g0059 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0070 a0002c0002t0001g0072 a0002c0012t0001g0018 a0002c0012t0001g0091 a0002c0024t0001g0001 a0002c0032t0001g0001 a0004c0005t0001g0007 a0005c0006t0001g0013 a0005c0006t0001g0019 a0005c0006t0001g0025 a0007c0007t0001g0001 a0009c0011t0001g0014 a0012c0015t0001g0035 a0012c0015t0001g0036 a0013c0017t0001g0029 a0013c0017t0001g0078 a0014c0016t0001g0028 a0014c0016t0001g0074 a0015c0022t0001g0013 a0017c0019t0001g0002 a0017c0019t0001g0087 a0018c0018t0001g0053 a0018c0018t0001g0054 a0025c0037t0001g0073 a0027c0030t0001g0001 a0028c0029t0001g0057	130	400	0.3250	c.213 others(4): Show c.2137G>A	p.Glu others(6): Show p.Glu713Lys	ANKK1	ENSG00000170209.5	transcript	ENST00000303941.4	protein_coding	8/8	2243/2553	2137/2298	713/765	chr11	TogoVar
ANKLE1_chr19_17276901_17292646	17281954	C C	T T	missense_variant missense_variant	MODERATE	HG02615.hp1 NA20300.hp1 HG02615.hp1 NA20300.hp1	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0030 a0011c0014t0030	a0011c0014t0030g0003 a0011c0014t0030g0003	2	406	0.0049	c.34C others(2): Show c.34C>T	p.Arg others(5): Show p.Arg12Trp	ANKLE1	ENSG00000160117.16	transcript	ENST00000404085.7	protein_coding	1/9	54/2962	34/1848	12/615	chr19	TogoVar
ANKLE1_chr19_17276901_17292646	17282085	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(149): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01978.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp2 NA18940.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18954.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA18999.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19058.hp2 NA19062.hp1 NA19065.hp2 NA19066.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp2 NA19089.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0002 a0009 a0011 others(5): Show a0002 a0009 a0011 a0022 a0023 a0024 a0025 a0026	a0002c0002 a0002c0005 a0009c0010 others(6): Show a0002c0002 a0002c0005 a0009c0010 a0011c0014 a0022c0019 a0023c0016 a0024c0018 a0025c0017 a0026c0020	a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 others(29): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0019 a0002c0002t0021 a0002c0002t0022 a0002c0002t0023 a0002c0002t0024 a0002c0002t0031 a0002c0002t0032 a0002c0002t0038 a0002c0002t0049 a0002c0002t0050 a0002c0002t0052 a0002c0002t0053 a0002c0002t0055 a0002c0005t0005 a0002c0005t0011 a0002c0005t0013 a0002c0005t0021 a0002c0005t0056 a0009c0010t0007 a0009c0010t0054 a0011c0014t0030 a0022c0019t0019 a0023c0016t0022 a0024c0018t0007 a0025c0017t0005 a0026c0020t0011	a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0018 others(47): Show a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0018 a0002c0002t0005g0002 a0002c0002t0005g0003 a0002c0002t0005g0027 a0002c0002t0007g0002 a0002c0002t0007g0003 a0002c0002t0007g0006 a0002c0002t0007g0026 a0002c0002t0010g0002 a0002c0002t0010g0003 a0002c0002t0011g0003 a0002c0002t0012g0002 a0002c0002t0012g0003 a0002c0002t0012g0006 a0002c0002t0012g0015 a0002c0002t0019g0002 a0002c0002t0019g0015 a0002c0002t0021g0002 a0002c0002t0021g0003 a0002c0002t0022g0002 a0002c0002t0022g0006 a0002c0002t0023g0002 a0002c0002t0023g0003 a0002c0002t0024g0003 a0002c0002t0031g0016 a0002c0002t0031g0029 a0002c0002t0032g0006 a0002c0002t0038g0003 a0002c0002t0049g0002 a0002c0002t0050g0006 a0002c0002t0052g0003 a0002c0002t0053g0006 a0002c0002t0055g0003 a0002c0005t0005g0016 a0002c0005t0011g0002 a0002c0005t0011g0003 a0002c0005t0011g0024 a0002c0005t0013g0003 a0002c0005t0021g0003 a0002c0005t0056g0003 a0009c0010t0007g0006 a0009c0010t0054g0018 a0011c0014t0030g0003 a0022c0019t0019g0002 a0023c0016t0022g0006 a0024c0018t0007g0002 a0025c0017t0005g0003 a0026c0020t0011g0003	152	406	0.3744	c.91G others(2): Show c.91G>A	p.Ala others(5): Show p.Ala31Thr	ANKLE1	ENSG00000160117.16	transcript	ENST00000404085.7	protein_coding	2/9	111/2962	91/1848	31/615	chr19	TogoVar
ANKLE1_chr19_17276901_17292646	17282206	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(211): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01978.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.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 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18954.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA18999.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19058.hp2 NA19062.hp1 NA19065.hp2 NA19066.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp2 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0002 a0003 a0004 others(15): Show a0002 a0003 a0004 a0006 a0008 a0009 a0010 a0011 a0012 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026	a0002c0002 a0002c0005 a0003c0003 others(18): Show a0002c0002 a0002c0005 a0003c0003 a0003c0006 a0004c0004 a0006c0008 a0006c0029 a0008c0011 a0009c0010 a0010c0013 a0011c0014 a0012c0015 a0018c0032 a0019c0031 a0020c0030 a0021c0028 a0022c0019 a0023c0016 a0024c0018 a0025c0017 a0026c0020	a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 others(52): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0019 a0002c0002t0021 a0002c0002t0022 a0002c0002t0023 a0002c0002t0024 a0002c0002t0031 a0002c0002t0032 a0002c0002t0038 a0002c0002t0049 a0002c0002t0050 a0002c0002t0052 a0002c0002t0053 a0002c0002t0055 a0002c0005t0005 a0002c0005t0011 a0002c0005t0013 a0002c0005t0021 a0002c0005t0056 a0003c0003t0004 a0003c0003t0045 a0003c0003t0046 a0003c0006t0016 a0003c0006t0048 a0003c0006t0051 a0004c0004t0011 a0004c0004t0012 a0004c0004t0013 a0004c0004t0021 a0004c0004t0032 a0004c0004t0033 a0006c0008t0025 a0006c0008t0034 a0006c0008t0035 a0006c0029t0037 a0008c0011t0004 a0009c0010t0007 a0009c0010t0054 a0010c0013t0029 a0011c0014t0030 a0012c0015t0011 a0018c0032t0004 a0019c0031t0036 a0020c0030t0047 a0021c0028t0004 a0022c0019t0019 a0023c0016t0022 a0024c0018t0007 a0025c0017t0005 a0026c0020t0011	a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0018 others(75): Show a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0018 a0002c0002t0005g0002 a0002c0002t0005g0003 a0002c0002t0005g0027 a0002c0002t0007g0002 a0002c0002t0007g0003 a0002c0002t0007g0006 a0002c0002t0007g0026 a0002c0002t0010g0002 a0002c0002t0010g0003 a0002c0002t0011g0003 a0002c0002t0012g0002 a0002c0002t0012g0003 a0002c0002t0012g0006 a0002c0002t0012g0015 a0002c0002t0019g0002 a0002c0002t0019g0015 a0002c0002t0021g0002 a0002c0002t0021g0003 a0002c0002t0022g0002 a0002c0002t0022g0006 a0002c0002t0023g0002 a0002c0002t0023g0003 a0002c0002t0024g0003 a0002c0002t0031g0016 a0002c0002t0031g0029 a0002c0002t0032g0006 a0002c0002t0038g0003 a0002c0002t0049g0002 a0002c0002t0050g0006 a0002c0002t0052g0003 a0002c0002t0053g0006 a0002c0002t0055g0003 a0002c0005t0005g0016 a0002c0005t0011g0002 a0002c0005t0011g0003 a0002c0005t0011g0024 a0002c0005t0013g0003 a0002c0005t0021g0003 a0002c0005t0056g0003 a0003c0003t0004g0005 a0003c0003t0004g0014 a0003c0003t0004g0022 a0003c0003t0004g0023 a0003c0003t0045g0005 a0003c0003t0046g0012 a0003c0006t0016g0008 a0003c0006t0048g0008 a0003c0006t0051g0025 a0004c0004t0011g0011 a0004c0004t0012g0007 a0004c0004t0013g0007 a0004c0004t0013g0011 a0004c0004t0021g0007 a0004c0004t0032g0007 a0004c0004t0033g0007 a0006c0008t0025g0013 a0006c0008t0025g0019 a0006c0008t0034g0013 a0006c0008t0035g0013 a0006c0029t0037g0028 a0008c0011t0004g0012 a0009c0010t0007g0006 a0009c0010t0054g0018 a0010c0013t0029g0017 a0011c0014t0030g0003 a0012c0015t0011g0011 a0018c0032t0004g0005 a0019c0031t0036g0019 a0020c0030t0047g0030 a0021c0028t0004g0014 a0022c0019t0019g0002 a0023c0016t0022g0006 a0024c0018t0007g0002 a0025c0017t0005g0003 a0026c0020t0011g0003	214	406	0.5271	c.212 others(3): Show c.212C>T	p.Ala others(5): Show p.Ala71Val	ANKLE1	ENSG00000160117.16	transcript	ENST00000404085.7	protein_coding	2/9	232/2962	212/1848	71/615	chr19	TogoVar
ANKLE1_chr19_17276901_17292646	17282208	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0018 a0018	a0018c0032 a0018c0032	a0018c0032t0004 a0018c0032t0004	a0018c0032t0004g0005 a0018c0032t0004g0005	1	406	0.0025	c.214 others(3): Show c.214C>G	p.Arg others(5): Show p.Arg72Gly	ANKLE1	ENSG00000160117.16	transcript	ENST00000404085.7	protein_coding	2/9	234/2962	214/1848	72/615	chr19	TogoVar
ANKLE1_chr19_17276901_17292646	17282721	T T	A A	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(164): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01978.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp2 NA18940.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18954.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA18999.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19058.hp2 NA19062.hp1 NA19065.hp2 NA19066.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp2 NA19089.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0002 a0004 a0009 others(8): Show a0002 a0004 a0009 a0011 a0012 a0017 a0022 a0023 a0024 a0025 a0026	a0002c0002 a0002c0005 a0004c0004 others(9): Show a0002c0002 a0002c0005 a0004c0004 a0009c0010 a0011c0014 a0012c0015 a0017c0021 a0022c0019 a0023c0016 a0024c0018 a0025c0017 a0026c0020	a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 others(37): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0019 a0002c0002t0021 a0002c0002t0022 a0002c0002t0023 a0002c0002t0024 a0002c0002t0031 a0002c0002t0032 a0002c0002t0038 a0002c0002t0049 a0002c0002t0050 a0002c0002t0052 a0002c0002t0053 a0002c0002t0055 a0002c0005t0005 a0002c0005t0011 a0002c0005t0013 a0002c0005t0021 a0002c0005t0056 a0004c0004t0011 a0004c0004t0012 a0004c0004t0013 a0004c0004t0021 a0004c0004t0032 a0004c0004t0033 a0009c0010t0007 a0009c0010t0054 a0011c0014t0030 a0012c0015t0011 a0017c0021t0007 a0022c0019t0019 a0023c0016t0022 a0024c0018t0007 a0025c0017t0005 a0026c0020t0011	a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0018 others(56): Show a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0018 a0002c0002t0005g0002 a0002c0002t0005g0003 a0002c0002t0005g0027 a0002c0002t0007g0002 a0002c0002t0007g0003 a0002c0002t0007g0006 a0002c0002t0007g0026 a0002c0002t0010g0002 a0002c0002t0010g0003 a0002c0002t0011g0003 a0002c0002t0012g0002 a0002c0002t0012g0003 a0002c0002t0012g0006 a0002c0002t0012g0015 a0002c0002t0019g0002 a0002c0002t0019g0015 a0002c0002t0021g0002 a0002c0002t0021g0003 a0002c0002t0022g0002 a0002c0002t0022g0006 a0002c0002t0023g0002 a0002c0002t0023g0003 a0002c0002t0024g0003 a0002c0002t0031g0016 a0002c0002t0031g0029 a0002c0002t0032g0006 a0002c0002t0038g0003 a0002c0002t0049g0002 a0002c0002t0050g0006 a0002c0002t0052g0003 a0002c0002t0053g0006 a0002c0002t0055g0003 a0002c0005t0005g0016 a0002c0005t0011g0002 a0002c0005t0011g0003 a0002c0005t0011g0024 a0002c0005t0013g0003 a0002c0005t0021g0003 a0002c0005t0056g0003 a0004c0004t0011g0011 a0004c0004t0012g0007 a0004c0004t0013g0007 a0004c0004t0013g0011 a0004c0004t0021g0007 a0004c0004t0032g0007 a0004c0004t0033g0007 a0009c0010t0007g0006 a0009c0010t0054g0018 a0011c0014t0030g0003 a0012c0015t0011g0011 a0017c0021t0007g0002 a0022c0019t0019g0002 a0023c0016t0022g0006 a0024c0018t0007g0002 a0025c0017t0005g0003 a0026c0020t0011g0003	167	406	0.4113	c.281 others(3): Show c.281T>A	p.Leu others(5): Show p.Leu94Gln	ANKLE1	ENSG00000160117.16	transcript	ENST00000404085.7	protein_coding	3/9	301/2962	281/1848	94/615	chr19	TogoVar
ANKLE1_chr19_17276901_17292646	17283242	C C	T T	missense_variant missense_variant	MODERATE	HG02486.hp2 HG02970.hp1 NA19240.hp2 HG02486.hp2 HG02970.hp1 NA19240.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0004 a0008c0011t0004	a0008c0011t0004g0012 a0008c0011t0004g0012	3	406	0.0074	c.478 others(3): Show c.478C>T	p.Pro others(6): Show p.Pro160Ser	ANKLE1	ENSG00000160117.16	transcript	ENST00000404085.7	protein_coding	5/9	498/2962	478/1848	160/615	chr19	TogoVar
ANKLE1_chr19_17276901_17292646	17283315	T T	G G	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(164): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01978.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp2 NA18940.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18954.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA18999.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19058.hp2 NA19062.hp1 NA19065.hp2 NA19066.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp2 NA19089.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0002 a0004 a0009 others(8): Show a0002 a0004 a0009 a0011 a0012 a0017 a0022 a0023 a0024 a0025 a0026	a0002c0002 a0002c0005 a0004c0004 others(9): Show a0002c0002 a0002c0005 a0004c0004 a0009c0010 a0011c0014 a0012c0015 a0017c0021 a0022c0019 a0023c0016 a0024c0018 a0025c0017 a0026c0020	a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 others(37): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0019 a0002c0002t0021 a0002c0002t0022 a0002c0002t0023 a0002c0002t0024 a0002c0002t0031 a0002c0002t0032 a0002c0002t0038 a0002c0002t0049 a0002c0002t0050 a0002c0002t0052 a0002c0002t0053 a0002c0002t0055 a0002c0005t0005 a0002c0005t0011 a0002c0005t0013 a0002c0005t0021 a0002c0005t0056 a0004c0004t0011 a0004c0004t0012 a0004c0004t0013 a0004c0004t0021 a0004c0004t0032 a0004c0004t0033 a0009c0010t0007 a0009c0010t0054 a0011c0014t0030 a0012c0015t0011 a0017c0021t0007 a0022c0019t0019 a0023c0016t0022 a0024c0018t0007 a0025c0017t0005 a0026c0020t0011	a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0018 others(56): Show a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0018 a0002c0002t0005g0002 a0002c0002t0005g0003 a0002c0002t0005g0027 a0002c0002t0007g0002 a0002c0002t0007g0003 a0002c0002t0007g0006 a0002c0002t0007g0026 a0002c0002t0010g0002 a0002c0002t0010g0003 a0002c0002t0011g0003 a0002c0002t0012g0002 a0002c0002t0012g0003 a0002c0002t0012g0006 a0002c0002t0012g0015 a0002c0002t0019g0002 a0002c0002t0019g0015 a0002c0002t0021g0002 a0002c0002t0021g0003 a0002c0002t0022g0002 a0002c0002t0022g0006 a0002c0002t0023g0002 a0002c0002t0023g0003 a0002c0002t0024g0003 a0002c0002t0031g0016 a0002c0002t0031g0029 a0002c0002t0032g0006 a0002c0002t0038g0003 a0002c0002t0049g0002 a0002c0002t0050g0006 a0002c0002t0052g0003 a0002c0002t0053g0006 a0002c0002t0055g0003 a0002c0005t0005g0016 a0002c0005t0011g0002 a0002c0005t0011g0003 a0002c0005t0011g0024 a0002c0005t0013g0003 a0002c0005t0021g0003 a0002c0005t0056g0003 a0004c0004t0011g0011 a0004c0004t0012g0007 a0004c0004t0013g0007 a0004c0004t0013g0011 a0004c0004t0021g0007 a0004c0004t0032g0007 a0004c0004t0033g0007 a0009c0010t0007g0006 a0009c0010t0054g0018 a0011c0014t0030g0003 a0012c0015t0011g0011 a0017c0021t0007g0002 a0022c0019t0019g0002 a0023c0016t0022g0006 a0024c0018t0007g0002 a0025c0017t0005g0003 a0026c0020t0011g0003	167	406	0.4113	c.551 others(3): Show c.551T>G	p.Leu others(6): Show p.Leu184Trp	ANKLE1	ENSG00000160117.16	transcript	ENST00000404085.7	protein_coding	5/9	571/2962	551/1848	184/615	chr19	TogoVar
ANKLE1_chr19_17276901_17292646	17283390	C C	T T	missense_variant missense_variant	MODERATE	HG03139.hp2 HG03139.hp2	a0019 a0019	a0019c0031 a0019c0031	a0019c0031t0036 a0019c0031t0036	a0019c0031t0036g0019 a0019c0031t0036g0019	1	406	0.0025	c.626 others(3): Show c.626C>T	p.Pro others(6): Show p.Pro209Leu	ANKLE1	ENSG00000160117.16	transcript	ENST00000404085.7	protein_coding	5/9	646/2962	626/1848	209/615	chr19	TogoVar
ANKLE1_chr19_17276901_17292646	17283419	G G	A A	missense_variant missense_variant	MODERATE	HG03225.hp1 HG03225.hp1	a0021 a0021	a0021c0028 a0021c0028	a0021c0028t0004 a0021c0028t0004	a0021c0028t0004g0014 a0021c0028t0004g0014	1	406	0.0025	c.655 others(3): Show c.655G>A	p.Ala others(6): Show p.Ala219Thr	ANKLE1	ENSG00000160117.16	transcript	ENST00000404085.7	protein_coding	5/9	675/2962	655/1848	219/615	chr19	TogoVar
ANKLE1_chr19_17276901_17292646	17283566	G G	C C	missense_variant missense_variant	MODERATE	HG01069.hp1 HG01257.hp1 HG01261.hp2 others(2): Show HG01069.hp1 HG01257.hp1 HG01261.hp2 HG02293.hp1 NA20905.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0006 a0007c0007t0043 a0007c0007t0001 a0007c0007t0006 a0007c0007t0043	a0007c0007t0001g0001 a0007c0007t0006g0001 a0007c0007t0043g0037 a0007c0007t0001g0001 a0007c0007t0006g0001 a0007c0007t0043g0037	5	406	0.0123	c.802 others(3): Show c.802G>C	p.Glu others(6): Show p.Glu268Gln	ANKLE1	ENSG00000160117.16	transcript	ENST00000404085.7	protein_coding	5/9	822/2962	802/1848	268/615	chr19	TogoVar
ANKLE1_chr19_17276901_17292646	17283695	A A	C C	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(212): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01978.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.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 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18954.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA18999.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19058.hp2 NA19062.hp1 NA19065.hp2 NA19066.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp2 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0002 a0003 a0004 others(16): Show a0002 a0003 a0004 a0006 a0008 a0009 a0010 a0011 a0012 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026	a0002c0002 a0002c0005 a0003c0003 others(19): Show a0002c0002 a0002c0005 a0003c0003 a0003c0006 a0004c0004 a0006c0008 a0006c0029 a0008c0011 a0009c0010 a0010c0013 a0011c0014 a0012c0015 a0017c0021 a0018c0032 a0019c0031 a0020c0030 a0021c0028 a0022c0019 a0023c0016 a0024c0018 a0025c0017 a0026c0020	a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 others(53): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0019 a0002c0002t0021 a0002c0002t0022 a0002c0002t0023 a0002c0002t0024 a0002c0002t0031 a0002c0002t0032 a0002c0002t0038 a0002c0002t0049 a0002c0002t0050 a0002c0002t0052 a0002c0002t0053 a0002c0002t0055 a0002c0005t0005 a0002c0005t0011 a0002c0005t0013 a0002c0005t0021 a0002c0005t0056 a0003c0003t0004 a0003c0003t0045 a0003c0003t0046 a0003c0006t0016 a0003c0006t0048 a0003c0006t0051 a0004c0004t0011 a0004c0004t0012 a0004c0004t0013 a0004c0004t0021 a0004c0004t0032 a0004c0004t0033 a0006c0008t0025 a0006c0008t0034 a0006c0008t0035 a0006c0029t0037 a0008c0011t0004 a0009c0010t0007 a0009c0010t0054 a0010c0013t0029 a0011c0014t0030 a0012c0015t0011 a0017c0021t0007 a0018c0032t0004 a0019c0031t0036 a0020c0030t0047 a0021c0028t0004 a0022c0019t0019 a0023c0016t0022 a0024c0018t0007 a0025c0017t0005 a0026c0020t0011	a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0018 others(76): Show a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0018 a0002c0002t0005g0002 a0002c0002t0005g0003 a0002c0002t0005g0027 a0002c0002t0007g0002 a0002c0002t0007g0003 a0002c0002t0007g0006 a0002c0002t0007g0026 a0002c0002t0010g0002 a0002c0002t0010g0003 a0002c0002t0011g0003 a0002c0002t0012g0002 a0002c0002t0012g0003 a0002c0002t0012g0006 a0002c0002t0012g0015 a0002c0002t0019g0002 a0002c0002t0019g0015 a0002c0002t0021g0002 a0002c0002t0021g0003 a0002c0002t0022g0002 a0002c0002t0022g0006 a0002c0002t0023g0002 a0002c0002t0023g0003 a0002c0002t0024g0003 a0002c0002t0031g0016 a0002c0002t0031g0029 a0002c0002t0032g0006 a0002c0002t0038g0003 a0002c0002t0049g0002 a0002c0002t0050g0006 a0002c0002t0052g0003 a0002c0002t0053g0006 a0002c0002t0055g0003 a0002c0005t0005g0016 a0002c0005t0011g0002 a0002c0005t0011g0003 a0002c0005t0011g0024 a0002c0005t0013g0003 a0002c0005t0021g0003 a0002c0005t0056g0003 a0003c0003t0004g0005 a0003c0003t0004g0014 a0003c0003t0004g0022 a0003c0003t0004g0023 a0003c0003t0045g0005 a0003c0003t0046g0012 a0003c0006t0016g0008 a0003c0006t0048g0008 a0003c0006t0051g0025 a0004c0004t0011g0011 a0004c0004t0012g0007 a0004c0004t0013g0007 a0004c0004t0013g0011 a0004c0004t0021g0007 a0004c0004t0032g0007 a0004c0004t0033g0007 a0006c0008t0025g0013 a0006c0008t0025g0019 a0006c0008t0034g0013 a0006c0008t0035g0013 a0006c0029t0037g0028 a0008c0011t0004g0012 a0009c0010t0007g0006 a0009c0010t0054g0018 a0010c0013t0029g0017 a0011c0014t0030g0003 a0012c0015t0011g0011 a0017c0021t0007g0002 a0018c0032t0004g0005 a0019c0031t0036g0019 a0020c0030t0047g0030 a0021c0028t0004g0014 a0022c0019t0019g0002 a0023c0016t0022g0006 a0024c0018t0007g0002 a0025c0017t0005g0003 a0026c0020t0011g0003	215	406	0.5296	c.931 others(3): Show c.931A>C	p.Thr others(6): Show p.Thr311Pro	ANKLE1	ENSG00000160117.16	transcript	ENST00000404085.7	protein_coding	5/9	951/2962	931/1848	311/615	chr19	TogoVar
ANKLE1_chr19_17276901_17292646	17283891	A A	C C	missense_variant missense_variant	MODERATE	HG01891.hp2 HG03209.hp1 HG01891.hp2 HG03209.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0029 a0010c0013t0029	a0010c0013t0029g0017 a0010c0013t0029g0017	2	406	0.0049	c.112 others(4): Show c.1127A>C	p.Asn others(6): Show p.Asn376Thr	ANKLE1	ENSG00000160117.16	transcript	ENST00000404085.7	protein_coding	5/9	1147/2962	1127/1848	376/615	chr19	TogoVar
ANKLE1_chr19_17276901_17292646	17284133	C C	T T	missense_variant missense_variant	MODERATE	NA19030.hp2 NA19030.hp2	a0026 a0026	a0026c0020 a0026c0020	a0026c0020t0011 a0026c0020t0011	a0026c0020t0011g0003 a0026c0020t0011g0003	1	406	0.0025	c.124 others(4): Show c.1243C>T	p.Arg others(6): Show p.Arg415Trp	ANKLE1	ENSG00000160117.16	transcript	ENST00000404085.7	protein_coding	6/9	1263/2962	1243/1848	415/615	chr19	TogoVar
ANKLE1_chr19_17276901_17292646	17284194	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(212): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01978.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.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 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18954.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA18999.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19058.hp2 NA19062.hp1 NA19065.hp2 NA19066.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp2 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0002 a0003 a0004 others(16): Show a0002 a0003 a0004 a0006 a0008 a0009 a0010 a0011 a0012 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026	a0002c0002 a0002c0005 a0003c0003 others(19): Show a0002c0002 a0002c0005 a0003c0003 a0003c0006 a0004c0004 a0006c0008 a0006c0029 a0008c0011 a0009c0010 a0010c0013 a0011c0014 a0012c0015 a0017c0021 a0018c0032 a0019c0031 a0020c0030 a0021c0028 a0022c0019 a0023c0016 a0024c0018 a0025c0017 a0026c0020	a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 others(53): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0019 a0002c0002t0021 a0002c0002t0022 a0002c0002t0023 a0002c0002t0024 a0002c0002t0031 a0002c0002t0032 a0002c0002t0038 a0002c0002t0049 a0002c0002t0050 a0002c0002t0052 a0002c0002t0053 a0002c0002t0055 a0002c0005t0005 a0002c0005t0011 a0002c0005t0013 a0002c0005t0021 a0002c0005t0056 a0003c0003t0004 a0003c0003t0045 a0003c0003t0046 a0003c0006t0016 a0003c0006t0048 a0003c0006t0051 a0004c0004t0011 a0004c0004t0012 a0004c0004t0013 a0004c0004t0021 a0004c0004t0032 a0004c0004t0033 a0006c0008t0025 a0006c0008t0034 a0006c0008t0035 a0006c0029t0037 a0008c0011t0004 a0009c0010t0007 a0009c0010t0054 a0010c0013t0029 a0011c0014t0030 a0012c0015t0011 a0017c0021t0007 a0018c0032t0004 a0019c0031t0036 a0020c0030t0047 a0021c0028t0004 a0022c0019t0019 a0023c0016t0022 a0024c0018t0007 a0025c0017t0005 a0026c0020t0011	a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0018 others(76): Show a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0018 a0002c0002t0005g0002 a0002c0002t0005g0003 a0002c0002t0005g0027 a0002c0002t0007g0002 a0002c0002t0007g0003 a0002c0002t0007g0006 a0002c0002t0007g0026 a0002c0002t0010g0002 a0002c0002t0010g0003 a0002c0002t0011g0003 a0002c0002t0012g0002 a0002c0002t0012g0003 a0002c0002t0012g0006 a0002c0002t0012g0015 a0002c0002t0019g0002 a0002c0002t0019g0015 a0002c0002t0021g0002 a0002c0002t0021g0003 a0002c0002t0022g0002 a0002c0002t0022g0006 a0002c0002t0023g0002 a0002c0002t0023g0003 a0002c0002t0024g0003 a0002c0002t0031g0016 a0002c0002t0031g0029 a0002c0002t0032g0006 a0002c0002t0038g0003 a0002c0002t0049g0002 a0002c0002t0050g0006 a0002c0002t0052g0003 a0002c0002t0053g0006 a0002c0002t0055g0003 a0002c0005t0005g0016 a0002c0005t0011g0002 a0002c0005t0011g0003 a0002c0005t0011g0024 a0002c0005t0013g0003 a0002c0005t0021g0003 a0002c0005t0056g0003 a0003c0003t0004g0005 a0003c0003t0004g0014 a0003c0003t0004g0022 a0003c0003t0004g0023 a0003c0003t0045g0005 a0003c0003t0046g0012 a0003c0006t0016g0008 a0003c0006t0048g0008 a0003c0006t0051g0025 a0004c0004t0011g0011 a0004c0004t0012g0007 a0004c0004t0013g0007 a0004c0004t0013g0011 a0004c0004t0021g0007 a0004c0004t0032g0007 a0004c0004t0033g0007 a0006c0008t0025g0013 a0006c0008t0025g0019 a0006c0008t0034g0013 a0006c0008t0035g0013 a0006c0029t0037g0028 a0008c0011t0004g0012 a0009c0010t0007g0006 a0009c0010t0054g0018 a0010c0013t0029g0017 a0011c0014t0030g0003 a0012c0015t0011g0011 a0017c0021t0007g0002 a0018c0032t0004g0005 a0019c0031t0036g0019 a0020c0030t0047g0030 a0021c0028t0004g0014 a0022c0019t0019g0002 a0023c0016t0022g0006 a0024c0018t0007g0002 a0025c0017t0005g0003 a0026c0020t0011g0003	215	406	0.5296	c.130 others(4): Show c.1304A>G	p.Gln others(6): Show p.Gln435Arg	ANKLE1	ENSG00000160117.16	transcript	ENST00000404085.7	protein_coding	6/9	1324/2962	1304/1848	435/615	chr19	TogoVar
ANKLE1_chr19_17276901_17292646	17284218	G G	A A	missense_variant missense_variant	MODERATE	NA18943.hp2 NA18943.hp2	a0014 a0014	a0014c0025 a0014c0025	a0014c0025t0008 a0014c0025t0008	a0014c0025t0008g0001 a0014c0025t0008g0001	1	406	0.0025	c.132 others(4): Show c.1328G>A	p.Arg others(6): Show p.Arg443Gln	ANKLE1	ENSG00000160117.16	transcript	ENST00000404085.7	protein_coding	6/9	1348/2962	1328/1848	443/615	chr19	TogoVar
ANKLE1_chr19_17276901_17292646	17284229	G G	A A	missense_variant missense_variant	MODERATE	HG01109.hp1 HG02258.hp2 HG02451.hp2 others(4): Show HG01109.hp1 HG02258.hp2 HG02451.hp2 HG02572.hp1 HG02647.hp2 HG02886.hp2 HG03139.hp2	a0006 a0019 a0006 a0019	a0006c0008 a0006c0029 a0019c0031 a0006c0008 a0006c0029 a0019c0031	a0006c0008t0025 a0006c0008t0034 a0006c0008t0035 others(2): Show a0006c0008t0025 a0006c0008t0034 a0006c0008t0035 a0006c0029t0037 a0019c0031t0036	a0006c0008t0025g0013 a0006c0008t0025g0019 a0006c0008t0034g0013 others(3): Show a0006c0008t0025g0013 a0006c0008t0025g0019 a0006c0008t0034g0013 a0006c0008t0035g0013 a0006c0029t0037g0028 a0019c0031t0036g0019	7	406	0.0172	c.133 others(4): Show c.1339G>A	p.Val others(6): Show p.Val447Met	ANKLE1	ENSG00000160117.16	transcript	ENST00000404085.7	protein_coding	6/9	1359/2962	1339/1848	447/615	chr19	TogoVar
ANKLE1_chr19_17276901_17292646	17285463	C C	T T	missense_variant missense_variant	MODERATE	HG00741.hp1 HG00741.hp1	a0022 a0022	a0022c0019 a0022c0019	a0022c0019t0019 a0022c0019t0019	a0022c0019t0019g0002 a0022c0019t0019g0002	1	406	0.0025	c.140 others(4): Show c.1409C>T	p.Ser others(6): Show p.Ser470Leu	ANKLE1	ENSG00000160117.16	transcript	ENST00000404085.7	protein_coding	7/9	1429/2962	1409/1848	470/615	chr19	TogoVar
ANKLE1_chr19_17276901_17292646	17285499	G G	A A	missense_variant missense_variant	MODERATE	HG02523.hp1 HG02523.hp1	a0023 a0023	a0023c0016 a0023c0016	a0023c0016t0022 a0023c0016t0022	a0023c0016t0022g0006 a0023c0016t0022g0006	1	406	0.0025	c.144 others(4): Show c.1445G>A	p.Arg others(6): Show p.Arg482His	ANKLE1	ENSG00000160117.16	transcript	ENST00000404085.7	protein_coding	7/9	1465/2962	1445/1848	482/615	chr19	TogoVar
ANKLE1_chr19_17276901_17292646	17285535	G G	A A	missense_variant missense_variant	MODERATE	HG01496.hp2 HG01934.hp2 HG02698.hp1 others(4): Show HG01496.hp2 HG01934.hp2 HG02698.hp1 NA18945.hp1 NA18962.hp2 NA18993.hp1 NA19063.hp1	a0005 a0005	a0005c0009 a0005c0012 a0005c0023 a0005c0009 a0005c0012 a0005c0023	a0005c0009t0003 a0005c0012t0003 a0005c0023t0003 a0005c0009t0003 a0005c0012t0003 a0005c0023t0003	a0005c0009t0003g0004 a0005c0012t0003g0004 a0005c0012t0003g0009 others(1): Show a0005c0009t0003g0004 a0005c0012t0003g0004 a0005c0012t0003g0009 a0005c0023t0003g0004	7	406	0.0172	c.148 others(4): Show c.1481G>A	p.Arg others(6): Show p.Arg494Gln	ANKLE1	ENSG00000160117.16	transcript	ENST00000404085.7	protein_coding	7/9	1501/2962	1481/1848	494/615	chr19	TogoVar
ANKLE1_chr19_17276901_17292646	17285573	G G	C C	missense_variant missense_variant	MODERATE	HG01070.hp1 HG01168.hp1 HG01169.hp1 HG01070.hp1 HG01168.hp1 HG01169.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0007 a0009c0010t0054 a0009c0010t0007 a0009c0010t0054	a0009c0010t0007g0006 a0009c0010t0054g0018 a0009c0010t0007g0006 a0009c0010t0054g0018	3	406	0.0074	c.151 others(4): Show c.1519G>C	p.Gly others(6): Show p.Gly507Arg	ANKLE1	ENSG00000160117.16	transcript	ENST00000404085.7	protein_coding	7/9	1539/2962	1519/1848	507/615	chr19	TogoVar
ANKLE1_chr19_17276901_17292646	17285714	T T	G G	missense_variant missense_variant	MODERATE	HG03471.hp1 HG03471.hp1	a0025 a0025	a0025c0017 a0025c0017	a0025c0017t0005 a0025c0017t0005	a0025c0017t0005g0003 a0025c0017t0005g0003	1	406	0.0025	c.157 others(4): Show c.1570T>G	p.Leu others(6): Show p.Leu524Val	ANKLE1	ENSG00000160117.16	transcript	ENST00000404085.7	protein_coding	8/9	1590/2962	1570/1848	524/615	chr19	TogoVar
ANKLE1_chr19_17276901_17292646	17285741	G G	A A	missense_variant missense_variant	MODERATE	HG01433.hp2 HG01433.hp2	a0024 a0024	a0024c0018 a0024c0018	a0024c0018t0007 a0024c0018t0007	a0024c0018t0007g0002 a0024c0018t0007g0002	1	406	0.0025	c.159 others(4): Show c.1597G>A	p.Val others(6): Show p.Val533Ile	ANKLE1	ENSG00000160117.16	transcript	ENST00000404085.7	protein_coding	8/9	1617/2962	1597/1848	533/615	chr19	TogoVar
ANKLE1_chr19_17276901_17292646	17285767	C C	A A	missense_variant missense_variant	MODERATE	NA18963.hp2 NA18963.hp2	a0016 a0016	a0016c0026 a0016c0026	a0016c0026t0001 a0016c0026t0001	a0016c0026t0001g0032 a0016c0026t0001g0032	1	406	0.0025	c.162 others(4): Show c.1623C>A	p.His others(6): Show p.His541Gln	ANKLE1	ENSG00000160117.16	transcript	ENST00000404085.7	protein_coding	8/9	1643/2962	1623/1848	541/615	chr19	TogoVar
ANKLE1_chr19_17276901_17292646	17285775	C C	T T	missense_variant missense_variant	MODERATE	HG03098.hp1 HG03098.hp1	a0015 a0015	a0015c0027 a0015c0027	a0015c0027t0009 a0015c0027t0009	a0015c0027t0009g0001 a0015c0027t0009g0001	1	406	0.0025	c.163 others(4): Show c.1631C>T	p.Ala others(6): Show p.Ala544Val	ANKLE1	ENSG00000160117.16	transcript	ENST00000404085.7	protein_coding	8/9	1651/2962	1631/1848	544/615	chr19	TogoVar
ANKLE1_chr19_17276901_17292646	17286545	G G	A A	missense_variant missense_variant	MODERATE	HG06807.hp1 HG06807.hp1	a0020 a0020	a0020c0030 a0020c0030	a0020c0030t0047 a0020c0030t0047	a0020c0030t0047g0030 a0020c0030t0047g0030	1	406	0.0025	c.184 others(4): Show c.1841G>A	p.Arg others(6): Show p.Arg614Gln	ANKLE1	ENSG00000160117.16	transcript	ENST00000404085.7	protein_coding	9/9	1861/2962	1841/1848	614/615	chr19	TogoVar
ANKLE2_chr12_132720503_132766832	132727387	C C	G G	missense_variant missense_variant	MODERATE	HG00280.hp1 HG00544.hp1 HG01070.hp2 others(18): Show HG00280.hp1 HG00544.hp1 HG01070.hp2 HG01071.hp1 HG01169.hp1 HG01243.hp1 HG02027.hp2 HG03490.hp1 HG03492.hp2 HG04204.hp2 NA18942.hp2 NA18947.hp2 NA18956.hp2 NA18984.hp2 NA18990.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19074.hp2 NA19082.hp2	a0004 a0008 a0011 a0004 a0008 a0011	a0004c0004 a0004c0006 a0008c0015 others(1): Show a0004c0004 a0004c0006 a0008c0015 a0011c0022	a0004c0004t0001 a0004c0004t0019 a0004c0006t0001 others(2): Show a0004c0004t0001 a0004c0004t0019 a0004c0006t0001 a0008c0015t0001 a0011c0022t0001	a0004c0004t0001g0148 a0004c0004t0001g0154 a0004c0004t0001g0162 others(17): Show a0004c0004t0001g0148 a0004c0004t0001g0154 a0004c0004t0001g0162 a0004c0004t0001g0163 a0004c0004t0001g0165 a0004c0004t0001g0168 a0004c0004t0001g0169 a0004c0004t0001g0171 a0004c0004t0001g0172 a0004c0004t0001g0287 a0004c0004t0001g0288 a0004c0004t0019g0153 a0004c0006t0001g0007 a0004c0006t0001g0108 a0004c0006t0001g0155 a0004c0006t0001g0156 a0004c0006t0001g0176 a0008c0015t0001g0184 a0008c0015t0001g0197 a0011c0022t0001g0164	21	350	0.0600	c.267 others(4): Show c.2672G>C	p.Gly others(6): Show p.Gly891Ala	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	13/13	2706/4590	2672/2817	891/938	chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132727429	G G	C C	missense_variant missense_variant	MODERATE	HG02148.hp1 HG02148.hp1	a0016 a0016	a0016c0024 a0016c0024	a0016c0024t0001 a0016c0024t0001	a0016c0024t0001g0042 a0016c0024t0001g0042	1	350	0.0029	c.263 others(4): Show c.2630C>G	p.Ala others(6): Show p.Ala877Gly	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	13/13	2664/4590	2630/2817	877/938	chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132727430	C C	G G	missense_variant missense_variant	MODERATE	HG02148.hp1 HG02148.hp1	a0016 a0016	a0016c0024 a0016c0024	a0016c0024t0001 a0016c0024t0001	a0016c0024t0001g0042 a0016c0024t0001g0042	1	350	0.0029	c.262 others(4): Show c.2629G>C	p.Ala others(6): Show p.Ala877Pro	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	13/13	2663/4590	2629/2817	877/938	chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132728108	C C	T T	missense_variant missense_variant	MODERATE	NA18998.hp2 NA19074.hp2 NA18998.hp2 NA19074.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0001	a0008c0015t0001g0184 a0008c0015t0001g0197 a0008c0015t0001g0184 a0008c0015t0001g0197	2	350	0.0057	c.253 others(4): Show c.2539G>A	p.Val others(6): Show p.Val847Ile	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	12/13	2573/4590	2539/2817	847/938	chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132729815	G G	C C	missense_variant missense_variant	MODERATE	HG01358.hp2 HG01358.hp2	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0001 a0013c0019t0001	a0013c0019t0001g0247 a0013c0019t0001g0247	1	350	0.0029	c.234 others(4): Show c.2347C>G	p.Leu others(6): Show p.Leu783Val	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/13	2381/4590	2347/2817	783/938	chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132729973	G G	A A	missense_variant missense_variant	MODERATE	HG02080.hp2 HG02080.hp2	a0012 a0012	a0012c0020 a0012c0020	a0012c0020t0001 a0012c0020t0001	a0012c0020t0001g0103 a0012c0020t0001g0103	1	350	0.0029	c.218 others(4): Show c.2189C>T	p.Ser others(6): Show p.Ser730Leu	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/13	2223/4590	2189/2817	730/938	chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132730003	C C	T T	missense_variant missense_variant	MODERATE	HG00642.hp1 HG00735.hp1 HG00738.hp1 others(65): Show HG00642.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01175.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01496.hp2 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01981.hp2 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02293.hp1 HG02523.hp1 HG02683.hp1 HG02738.hp2 HG02809.hp1 HG03017.hp1 HG03490.hp2 HG03491.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18939.hp2 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp2 NA18966.hp1 NA18978.hp1 NA18998.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19077.hp2 NA19080.hp1 NA19087.hp1 NA19088.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0002 a0007 a0015 others(1): Show a0002 a0007 a0015 a0016	a0002c0002 a0002c0008 a0007c0014 others(2): Show a0002c0002 a0002c0008 a0007c0014 a0015c0025 a0016c0024	a0002c0002t0001 a0002c0002t0015 a0002c0002t0022 others(6): Show a0002c0002t0001 a0002c0002t0015 a0002c0002t0022 a0002c0008t0001 a0002c0008t0009 a0002c0008t0012 a0007c0014t0001 a0015c0025t0001 a0016c0024t0001	a0002c0002t0001g0003 a0002c0002t0001g0015 a0002c0002t0001g0016 others(64): Show a0002c0002t0001g0003 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0031 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0084 a0002c0002t0001g0105 a0002c0002t0001g0118 a0002c0002t0001g0127 a0002c0002t0001g0130 a0002c0002t0001g0146 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0252 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0304 a0002c0002t0001g0306 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0015g0273 a0002c0002t0022g0170 a0002c0008t0001g0149 a0002c0008t0001g0307 a0002c0008t0009g0166 a0002c0008t0012g0159 a0007c0014t0001g0175 a0007c0014t0001g0224 a0015c0025t0001g0281 a0016c0024t0001g0042	68	350	0.1943	c.215 others(4): Show c.2159G>A	p.Arg others(6): Show p.Arg720His	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/13	2193/4590	2159/2817	720/938	chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132730124	C C	T T	missense_variant missense_variant	MODERATE	HG00280.hp1 HG00544.hp1 HG01070.hp2 others(18): Show HG00280.hp1 HG00544.hp1 HG01070.hp2 HG01071.hp1 HG01169.hp1 HG01243.hp1 HG02027.hp2 HG03490.hp1 HG03492.hp2 HG04204.hp2 NA18942.hp2 NA18947.hp2 NA18956.hp2 NA18984.hp2 NA18990.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19074.hp2 NA19082.hp2	a0004 a0008 a0011 a0004 a0008 a0011	a0004c0004 a0004c0006 a0008c0015 others(1): Show a0004c0004 a0004c0006 a0008c0015 a0011c0022	a0004c0004t0001 a0004c0004t0019 a0004c0006t0001 others(2): Show a0004c0004t0001 a0004c0004t0019 a0004c0006t0001 a0008c0015t0001 a0011c0022t0001	a0004c0004t0001g0148 a0004c0004t0001g0154 a0004c0004t0001g0162 others(17): Show a0004c0004t0001g0148 a0004c0004t0001g0154 a0004c0004t0001g0162 a0004c0004t0001g0163 a0004c0004t0001g0165 a0004c0004t0001g0168 a0004c0004t0001g0169 a0004c0004t0001g0171 a0004c0004t0001g0172 a0004c0004t0001g0287 a0004c0004t0001g0288 a0004c0004t0019g0153 a0004c0006t0001g0007 a0004c0006t0001g0108 a0004c0006t0001g0155 a0004c0006t0001g0156 a0004c0006t0001g0176 a0008c0015t0001g0184 a0008c0015t0001g0197 a0011c0022t0001g0164	21	350	0.0600	c.203 others(4): Show c.2038G>A	p.Glu others(6): Show p.Glu680Lys	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/13	2072/4590	2038/2817	680/938	chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132734415	C C	G G	missense_variant missense_variant	MODERATE	NA18997.hp2 NA18997.hp2	a0014 a0014	a0014c0018 a0014c0018	a0014c0018t0001 a0014c0018t0001	a0014c0018t0001g0255 a0014c0018t0001g0255	1	350	0.0029	c.186 others(4): Show c.1861G>C	p.Ala others(6): Show p.Ala621Pro	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	10/13	1895/4590	1861/2817	621/938	chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132734418	C C	T T	missense_variant missense_variant	MODERATE	NA18997.hp2 NA18997.hp2	a0014 a0014	a0014c0018 a0014c0018	a0014c0018t0001 a0014c0018t0001	a0014c0018t0001g0255 a0014c0018t0001g0255	1	350	0.0029	c.185 others(4): Show c.1858G>A	p.Glu others(6): Show p.Glu620Lys	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	10/13	1892/4590	1858/2817	620/938	chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132734469	G G	A A	missense_variant missense_variant	MODERATE	HG00280.hp1 HG00280.hp1	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0001 a0011c0022t0001	a0011c0022t0001g0164 a0011c0022t0001g0164	1	350	0.0029	c.180 others(4): Show c.1807C>T	p.Leu others(6): Show p.Leu603Phe	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	10/13	1841/4590	1807/2817	603/938	chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132735439	G G	A A	missense_variant missense_variant	MODERATE	NA18957.hp1 NA18957.hp1	a0010 a0010	a0010c0021 a0010c0021	a0010c0021t0001 a0010c0021t0001	a0010c0021t0001g0263 a0010c0021t0001g0263	1	350	0.0029	c.166 others(4): Show c.1667C>T	p.Ser others(6): Show p.Ser556Leu	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	9/13	1701/4590	1667/2817	556/938	chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132736987	G G	A A	missense_variant missense_variant	MODERATE	HG01981.hp2 HG01981.hp2	a0015 a0015	a0015c0025 a0015c0025	a0015c0025t0001 a0015c0025t0001	a0015c0025t0001g0281 a0015c0025t0001g0281	1	350	0.0029	c.149 others(4): Show c.1499C>T	p.Thr others(6): Show p.Thr500Met	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	8/13	1533/4590	1499/2817	500/938	chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132743231	C C	T T	missense_variant missense_variant	MODERATE	HG02109.hp1 HG02486.hp2 HG02622.hp1 HG02109.hp1 HG02486.hp2 HG02622.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0231 a0006c0009t0001g0233 a0006c0009t0001g0259 a0006c0009t0001g0231 a0006c0009t0001g0233 a0006c0009t0001g0259	3	350	0.0086	c.127 others(4): Show c.1276G>A	p.Asp others(6): Show p.Asp426Asn	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	6/13	1310/4590	1276/2817	426/938	chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132754873	G G	C C	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00733.hp2 HG01243.hp2 others(18): Show HG00140.hp2 HG00733.hp2 HG01243.hp2 HG01346.hp1 HG01928.hp2 HG01934.hp2 HG01993.hp1 HG02145.hp2 HG02148.hp2 HG02258.hp2 HG02615.hp2 HG02630.hp2 HG02717.hp1 HG02818.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03540.hp1 NA19240.hp1 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0007 a0003c0023 a0003c0003 a0003c0007 a0003c0023	a0003c0003t0001 a0003c0003t0007 a0003c0003t0018 others(2): Show a0003c0003t0001 a0003c0003t0007 a0003c0003t0018 a0003c0007t0002 a0003c0023t0001	a0003c0003t0001g0124 a0003c0003t0001g0145 a0003c0003t0001g0186 others(17): Show a0003c0003t0001g0124 a0003c0003t0001g0145 a0003c0003t0001g0186 a0003c0003t0001g0187 a0003c0003t0001g0278 a0003c0003t0001g0279 a0003c0003t0001g0327 a0003c0003t0001g0329 a0003c0003t0001g0330 a0003c0003t0001g0333 a0003c0003t0001g0334 a0003c0003t0001g0335 a0003c0003t0001g0336 a0003c0003t0001g0337 a0003c0003t0007g0011 a0003c0003t0018g0319 a0003c0007t0002g0009 a0003c0007t0002g0276 a0003c0007t0002g0277 a0003c0023t0001g0321	21	350	0.0600	c.442 others(3): Show c.442C>G	p.Gln others(6): Show p.Gln148Glu	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	2/13	476/4590	442/2817	148/938	chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132754951	G G	A A	missense_variant missense_variant	MODERATE	HG00558.hp2 HG00597.hp1 HG00642.hp1 others(77): Show HG00558.hp2 HG00597.hp1 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01175.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01496.hp2 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01981.hp2 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02293.hp1 HG02523.hp1 HG02683.hp1 HG02698.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG03017.hp1 HG03490.hp2 HG03491.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp1 NA18939.hp2 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp2 NA18966.hp1 NA18973.hp1 NA18978.hp1 NA18998.hp1 NA19030.hp1 NA19030.hp2 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19077.hp2 NA19080.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0002 a0005 a0009 others(2): Show a0002 a0005 a0009 a0015 a0016	a0002c0002 a0002c0008 a0005c0005 others(3): Show a0002c0002 a0002c0008 a0005c0005 a0009c0013 a0015c0025 a0016c0024	a0002c0002t0001 a0002c0002t0015 a0002c0002t0022 others(9): Show a0002c0002t0001 a0002c0002t0015 a0002c0002t0022 a0002c0008t0001 a0002c0008t0009 a0002c0008t0012 a0005c0005t0001 a0005c0005t0016 a0005c0005t0020 a0009c0013t0005 a0015c0025t0001 a0016c0024t0001	a0002c0002t0001g0003 a0002c0002t0001g0015 a0002c0002t0001g0016 others(76): Show a0002c0002t0001g0003 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0031 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0084 a0002c0002t0001g0105 a0002c0002t0001g0118 a0002c0002t0001g0127 a0002c0002t0001g0130 a0002c0002t0001g0146 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0252 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0304 a0002c0002t0001g0306 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0015g0273 a0002c0002t0022g0170 a0002c0008t0001g0149 a0002c0008t0001g0307 a0002c0008t0009g0166 a0002c0008t0012g0159 a0005c0005t0001g0023 a0005c0005t0001g0024 a0005c0005t0001g0030 a0005c0005t0001g0033 a0005c0005t0001g0034 a0005c0005t0001g0188 a0005c0005t0001g0189 a0005c0005t0001g0190 a0005c0005t0001g0214 a0005c0005t0001g0302 a0005c0005t0016g0303 a0005c0005t0020g0312 a0009c0013t0005g0013 a0009c0013t0005g0014 a0015c0025t0001g0281 a0016c0024t0001g0042	80	350	0.2286	c.364 others(3): Show c.364C>T	p.His others(6): Show p.His122Tyr	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	2/13	398/4590	364/2817	122/938	chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132761780	C C	T T	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0005 a0009c0013t0005	a0009c0013t0005g0013 a0009c0013t0005g0014 a0009c0013t0005g0013 a0009c0013t0005g0014	2	350	0.0057	c.19G others(2): Show c.19G>A	p.Ala others(4): Show p.Ala7Thr	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/13	53/4590	19/2817	7/938	chr12	TogoVar
ANKMY1_chr2_240474422_240562988	240500120	G G	A A	missense_variant missense_variant	MODERATE	NA19004.hp2 NA19005.hp1 NA19004.hp2 NA19005.hp1	a0009 a0009	a0009c0026 a0009c0031 a0009c0026 a0009c0031	a0009c0026t0001 a0009c0031t0001 a0009c0026t0001 a0009c0031t0001	a0009c0026t0001g0165 a0009c0031t0001g0172 a0009c0026t0001g0165 a0009c0031t0001g0172	2	320	0.0063	c.264 others(4): Show c.2644C>T	p.Arg others(6): Show p.Arg882Trp	ANKMY1	ENSG00000144504.16	transcript	ENST00000401804.6	protein_coding	15/18	2769/3405	2644/3093	882/1030	chr2	TogoVar
ANKMY1_chr2_240474422_240562988	240500474	T T	G G	missense_variant missense_variant	MODERATE	NA18995.hp1 NA18995.hp1	a0018 a0018	a0018c0033 a0018c0033	a0018c0033t0001 a0018c0033t0001	a0018c0033t0001g0071 a0018c0033t0001g0071	1	320	0.0031	c.261 others(4): Show c.2618A>C	p.Tyr others(6): Show p.Tyr873Ser	ANKMY1	ENSG00000144504.16	transcript	ENST00000401804.6	protein_coding	14/18	2743/3405	2618/3093	873/1030	chr2	TogoVar

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