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
ANKRD66_chr6_46741933_46764506	46758727	G G	C C	missense_variant missense_variant	MODERATE	NA18612.hp1 NA18612.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0106 a0007c0007t0001g0106	1	402	0.0025	c.397 others(3): Show c.397G>C	p.Glu others(6): Show p.Glu133Gln	ANKRD66	ENSG00000230062.7	transcript	ENST00000565422.3	protein_coding	5/5	551/1330	397/591	133/196	chr6	TogoVar
ANKRD66_chr6_46741933_46764506	46758763	C C	A A	missense_variant missense_variant	MODERATE	HG01069.hp2 HG01071.hp1 HG01106.hp1 others(31): Show HG01069.hp2 HG01071.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01243.hp1 HG01346.hp1 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG02109.hp1 HG02257.hp1 HG02258.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02886.hp2 HG02895.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03195.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp2 NA19030.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0014 a0002c0002t0001g0024 others(12): Show a0002c0002t0001g0011 a0002c0002t0001g0014 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0046 a0002c0002t0001g0055 a0002c0002t0001g0094 a0002c0002t0001g0121 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0142 a0002c0002t0001g0146 a0002c0002t0001g0147	34	402	0.0846	c.433 others(3): Show c.433C>A	p.Gln others(6): Show p.Gln145Lys	ANKRD66	ENSG00000230062.7	transcript	ENST00000565422.3	protein_coding	5/5	587/1330	433/591	145/196	chr6	TogoVar
ANKRD66_chr6_46741933_46764506	46758769	G G	A A	missense_variant missense_variant	MODERATE	NA19004.hp2 NA19010.hp1 NA19004.hp2 NA19010.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0007 a0004c0003t0001g0069 a0004c0003t0001g0007 a0004c0003t0001g0069	2	402	0.0050	c.439 others(3): Show c.439G>A	p.Gly others(6): Show p.Gly147Arg	ANKRD66	ENSG00000230062.7	transcript	ENST00000565422.3	protein_coding	5/5	593/1330	439/591	147/196	chr6	TogoVar
ANKRD66_chr6_46741933_46764506	46758897	C C	A A	missense_variant missense_variant	MODERATE	HG02258.hp1 HG02723.hp2 HG02258.hp1 HG02723.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0118 a0003c0004t0001g0119 a0003c0004t0001g0118 a0003c0004t0001g0119	2	402	0.0050	c.567 others(3): Show c.567C>A	p.Ser others(6): Show p.Ser189Arg	ANKRD66	ENSG00000230062.7	transcript	ENST00000565422.3	protein_coding	5/5	721/1330	567/591	189/196	chr6	TogoVar
ANKRD6_chr6_89428152_89638821	89566993	C C	G G	missense_variant missense_variant	MODERATE	NA19000.hp2 NA19000.hp2	a0019 a0019	a0019c0030 a0019c0030	a0019c0030t0001 a0019c0030t0001	a0019c0030t0001g0039 a0019c0030t0001g0039	1	270	0.0037	c.17C others(2): Show c.17C>G	p.Ala others(4): Show p.Ala6Gly	ANKRD6	ENSG00000135299.18	transcript	ENST00000339746.9	protein_coding	2/16	384/5368	17/2184	6/727	chr6	TogoVar
ANKRD6_chr6_89428152_89638821	89595917	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01934.hp2 HG01934.hp2	a0018 a0018	a0018c0029 a0018c0029	a0018c0029t0001 a0018c0029t0001	a0018c0029t0001g0147 a0018c0029t0001g0147	1	270	0.0037	c.122 others(3): Show c.122A>G	p.His others(5): Show p.His41Arg	ANKRD6	ENSG00000135299.18	transcript	ENST00000339746.9	protein_coding	3/16	489/5368	122/2184	41/727	chr6	TogoVar
ANKRD6_chr6_89428152_89638821	89606052	C C	G G	missense_variant missense_variant	MODERATE	HG00423.hp1 HG00558.hp1 HG00558.hp2 others(14): Show HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG01081.hp2 HG01243.hp1 HG02129.hp1 HG02615.hp1 HG02886.hp1 HG02896.hp1 HG02965.hp2 HG03098.hp2 HG03688.hp1 HG03927.hp1 NA18906.hp2 NA19006.hp1 NA19077.hp1	a0004 a0004	a0004c0006 a0004c0014 a0004c0019 a0004c0006 a0004c0014 a0004c0019	a0004c0006t0003 a0004c0006t0007 a0004c0006t0014 others(3): Show a0004c0006t0003 a0004c0006t0007 a0004c0006t0014 a0004c0006t0018 a0004c0014t0001 a0004c0019t0002	a0004c0006t0003g0028 a0004c0006t0003g0102 a0004c0006t0003g0180 others(14): Show a0004c0006t0003g0028 a0004c0006t0003g0102 a0004c0006t0003g0180 a0004c0006t0003g0197 a0004c0006t0003g0198 a0004c0006t0003g0250 a0004c0006t0007g0098 a0004c0006t0007g0099 a0004c0006t0007g0100 a0004c0006t0007g0104 a0004c0006t0014g0203 a0004c0006t0018g0204 a0004c0014t0001g0176 a0004c0014t0001g0177 a0004c0014t0001g0196 a0004c0019t0002g0207 a0004c0019t0002g0208	17	270	0.0630	c.364 others(3): Show c.364C>G	p.Gln others(6): Show p.Gln122Glu	ANKRD6	ENSG00000135299.18	transcript	ENST00000339746.9	protein_coding	5/16	731/5368	364/2184	122/727	chr6	TogoVar
ANKRD6_chr6_89428152_89638821	89606070	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(207): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19063.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19077.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(12): Show a0001 a0002 a0006 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019	a0001c0002 a0001c0003 a0001c0005 others(17): Show a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0002c0001 a0002c0011 a0002c0026 a0006c0009 a0008c0016 a0009c0017 a0010c0018 a0011c0028 a0012c0024 a0013c0025 a0014c0027 a0015c0021 a0016c0022 a0017c0023 a0018c0029 a0019c0030	a0001c0002t0001 a0001c0002t0008 a0001c0002t0012 others(25): Show a0001c0002t0001 a0001c0002t0008 a0001c0002t0012 a0001c0003t0002 a0001c0003t0009 a0001c0003t0010 a0001c0003t0011 a0001c0005t0003 a0001c0005t0005 a0001c0007t0005 a0002c0001t0001 a0002c0001t0019 a0002c0011t0001 a0002c0011t0003 a0002c0026t0002 a0006c0009t0002 a0008c0016t0001 a0009c0017t0004 a0010c0018t0003 a0011c0028t0017 a0012c0024t0001 a0013c0025t0015 a0014c0027t0001 a0015c0021t0006 a0016c0022t0003 a0017c0023t0001 a0018c0029t0001 a0019c0030t0001	a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 others(207): Show a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0031 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0053 a0001c0002t0001g0064 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0087 a0001c0002t0001g0090 a0001c0002t0001g0112 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0148 a0001c0002t0001g0150 a0001c0002t0001g0152 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0172 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0179 a0001c0002t0001g0184 a0001c0002t0001g0192 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0213 a0001c0002t0001g0245 a0001c0002t0008g0113 a0001c0002t0008g0114 a0001c0002t0012g0154 a0001c0003t0002g0013 a0001c0003t0002g0014 a0001c0003t0002g0022 a0001c0003t0002g0023 a0001c0003t0002g0024 a0001c0003t0002g0034 a0001c0003t0002g0036 a0001c0003t0002g0037 a0001c0003t0002g0043 a0001c0003t0002g0044 a0001c0003t0002g0051 a0001c0003t0002g0116 a0001c0003t0002g0117 a0001c0003t0002g0118 a0001c0003t0002g0119 a0001c0003t0002g0120 a0001c0003t0002g0151 a0001c0003t0002g0153 a0001c0003t0002g0155 a0001c0003t0002g0156 a0001c0003t0002g0157 a0001c0003t0002g0158 a0001c0003t0002g0159 a0001c0003t0002g0166 a0001c0003t0002g0173 a0001c0003t0002g0178 a0001c0003t0002g0193 a0001c0003t0002g0194 a0001c0003t0002g0228 a0001c0003t0009g0111 a0001c0003t0010g0012 a0001c0003t0011g0033 a0001c0005t0003g0052 a0001c0005t0003g0054 a0001c0005t0003g0055 a0001c0005t0003g0057 a0001c0005t0003g0060 a0001c0005t0003g0062 a0001c0005t0003g0063 a0001c0005t0003g0074 a0001c0005t0003g0075 a0001c0005t0003g0183 a0001c0005t0003g0185 a0001c0005t0003g0190 a0001c0005t0003g0221 a0001c0005t0003g0253 a0001c0005t0005g0086 a0001c0007t0005g0058 a0001c0007t0005g0059 a0001c0007t0005g0067 a0001c0007t0005g0078 a0001c0007t0005g0091 a0001c0007t0005g0092 a0001c0007t0005g0093 a0001c0007t0005g0094 a0001c0007t0005g0236 a0001c0007t0005g0242 a0001c0007t0005g0264 a0002c0001t0001g0001 a0002c0001t0001g0004 a0002c0001t0001g0005 a0002c0001t0001g0007 a0002c0001t0001g0008 a0002c0001t0001g0009 a0002c0001t0001g0010 a0002c0001t0001g0018 a0002c0001t0001g0032 a0002c0001t0001g0035 a0002c0001t0001g0050 a0002c0001t0001g0061 a0002c0001t0001g0065 a0002c0001t0001g0066 a0002c0001t0001g0068 a0002c0001t0001g0069 a0002c0001t0001g0070 a0002c0001t0001g0071 a0002c0001t0001g0072 a0002c0001t0001g0073 a0002c0001t0001g0088 a0002c0001t0001g0095 a0002c0001t0001g0110 a0002c0001t0001g0126 a0002c0001t0001g0127 a0002c0001t0001g0138 a0002c0001t0001g0149 a0002c0001t0001g0181 a0002c0001t0001g0189 a0002c0001t0001g0201 a0002c0001t0001g0202 a0002c0001t0001g0210 a0002c0001t0001g0211 a0002c0001t0001g0212 a0002c0001t0001g0214 a0002c0001t0001g0215 a0002c0001t0001g0216 a0002c0001t0001g0217 a0002c0001t0001g0218 a0002c0001t0001g0219 a0002c0001t0001g0223 a0002c0001t0001g0224 a0002c0001t0001g0225 a0002c0001t0001g0226 a0002c0001t0001g0229 a0002c0001t0001g0230 a0002c0001t0001g0231 a0002c0001t0001g0232 a0002c0001t0001g0233 a0002c0001t0001g0234 a0002c0001t0001g0235 a0002c0001t0001g0237 a0002c0001t0001g0238 a0002c0001t0001g0239 a0002c0001t0001g0240 a0002c0001t0001g0243 a0002c0001t0001g0246 a0002c0001t0001g0247 a0002c0001t0001g0248 a0002c0001t0001g0255 a0002c0001t0001g0262 a0002c0001t0001g0266 a0002c0001t0001g0267 a0002c0001t0001g0268 a0002c0001t0001g0270 a0002c0001t0019g0220 a0002c0011t0001g0003 a0002c0011t0001g0056 a0002c0011t0001g0079 a0002c0011t0001g0089 a0002c0011t0001g0121 a0002c0011t0003g0186 a0002c0026t0002g0015 a0006c0009t0002g0011 a0006c0009t0002g0016 a0006c0009t0002g0029 a0006c0009t0002g0030 a0006c0009t0002g0042 a0006c0009t0002g0162 a0006c0009t0002g0195 a0008c0016t0001g0084 a0008c0016t0001g0085 a0009c0017t0004g0081 a0009c0017t0004g0115 a0010c0018t0003g0205 a0010c0018t0003g0206 a0011c0028t0017g0244 a0012c0024t0001g0249 a0013c0025t0015g0227 a0014c0027t0001g0209 a0015c0021t0006g0222 a0016c0022t0003g0241 a0017c0023t0001g0082 a0018c0029t0001g0147 a0019c0030t0001g0039	210	270	0.7778	c.382 others(3): Show c.382A>G	p.Ile others(6): Show p.Ile128Val	ANKRD6	ENSG00000135299.18	transcript	ENST00000339746.9	protein_coding	5/16	749/5368	382/2184	128/727	chr6	TogoVar
ANKRD6_chr6_89428152_89638821	89612324	C C	T T	missense_variant missense_variant	MODERATE	HG02523.hp1 HG02523.hp1	a0011 a0011	a0011c0028 a0011c0028	a0011c0028t0017 a0011c0028t0017	a0011c0028t0017g0244 a0011c0028t0017g0244	1	270	0.0037	c.470 others(3): Show c.470C>T	p.Thr others(6): Show p.Thr157Met	ANKRD6	ENSG00000135299.18	transcript	ENST00000339746.9	protein_coding	6/16	837/5368	470/2184	157/727	chr6	TogoVar
ANKRD6_chr6_89428152_89638821	89616641	C C	T T	missense_variant missense_variant	MODERATE	HG00280.hp1 HG00408.hp2 HG00544.hp1 others(74): Show HG00280.hp1 HG00408.hp2 HG00544.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp1 HG01081.hp1 HG01109.hp2 HG01123.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG02027.hp1 HG02027.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp2 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02615.hp2 HG02647.hp1 HG02698.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02970.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03453.hp1 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18962.hp1 NA18965.hp2 NA18968.hp1 NA18990.hp1 NA18999.hp1 NA19005.hp1 NA19011.hp2 NA19043.hp1 NA19055.hp2 NA19056.hp1 NA19068.hp1 NA19082.hp1 NA19083.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp1	a0002 a0011 a0012 others(2): Show a0002 a0011 a0012 a0013 a0014	a0002c0001 a0002c0011 a0002c0026 others(4): Show a0002c0001 a0002c0011 a0002c0026 a0011c0028 a0012c0024 a0013c0025 a0014c0027	a0002c0001t0001 a0002c0001t0019 a0002c0011t0001 others(6): Show a0002c0001t0001 a0002c0001t0019 a0002c0011t0001 a0002c0011t0003 a0002c0026t0002 a0011c0028t0017 a0012c0024t0001 a0013c0025t0015 a0014c0027t0001	a0002c0001t0001g0001 a0002c0001t0001g0004 a0002c0001t0001g0005 others(74): Show a0002c0001t0001g0001 a0002c0001t0001g0004 a0002c0001t0001g0005 a0002c0001t0001g0007 a0002c0001t0001g0008 a0002c0001t0001g0009 a0002c0001t0001g0010 a0002c0001t0001g0018 a0002c0001t0001g0032 a0002c0001t0001g0035 a0002c0001t0001g0050 a0002c0001t0001g0061 a0002c0001t0001g0065 a0002c0001t0001g0066 a0002c0001t0001g0068 a0002c0001t0001g0069 a0002c0001t0001g0070 a0002c0001t0001g0071 a0002c0001t0001g0072 a0002c0001t0001g0073 a0002c0001t0001g0088 a0002c0001t0001g0095 a0002c0001t0001g0110 a0002c0001t0001g0126 a0002c0001t0001g0127 a0002c0001t0001g0138 a0002c0001t0001g0149 a0002c0001t0001g0181 a0002c0001t0001g0189 a0002c0001t0001g0201 a0002c0001t0001g0202 a0002c0001t0001g0210 a0002c0001t0001g0211 a0002c0001t0001g0212 a0002c0001t0001g0214 a0002c0001t0001g0215 a0002c0001t0001g0216 a0002c0001t0001g0217 a0002c0001t0001g0218 a0002c0001t0001g0219 a0002c0001t0001g0223 a0002c0001t0001g0224 a0002c0001t0001g0225 a0002c0001t0001g0226 a0002c0001t0001g0229 a0002c0001t0001g0230 a0002c0001t0001g0231 a0002c0001t0001g0232 a0002c0001t0001g0233 a0002c0001t0001g0234 a0002c0001t0001g0235 a0002c0001t0001g0237 a0002c0001t0001g0238 a0002c0001t0001g0239 a0002c0001t0001g0240 a0002c0001t0001g0243 a0002c0001t0001g0246 a0002c0001t0001g0247 a0002c0001t0001g0248 a0002c0001t0001g0255 a0002c0001t0001g0262 a0002c0001t0001g0266 a0002c0001t0001g0267 a0002c0001t0001g0268 a0002c0001t0001g0270 a0002c0001t0019g0220 a0002c0011t0001g0003 a0002c0011t0001g0056 a0002c0011t0001g0079 a0002c0011t0001g0089 a0002c0011t0001g0121 a0002c0011t0003g0186 a0002c0026t0002g0015 a0011c0028t0017g0244 a0012c0024t0001g0249 a0013c0025t0015g0227 a0014c0027t0001g0209	77	270	0.2852	c.698 others(3): Show c.698C>T	p.Thr others(6): Show p.Thr233Met	ANKRD6	ENSG00000135299.18	transcript	ENST00000339746.9	protein_coding	8/16	1065/5368	698/2184	233/727	chr6	TogoVar
ANKRD6_chr6_89428152_89638821	89623434	C C	T T	missense_variant missense_variant	MODERATE	NA18961.hp2 NA18961.hp2	a0017 a0017	a0017c0023 a0017c0023	a0017c0023t0001 a0017c0023t0001	a0017c0023t0001g0082 a0017c0023t0001g0082	1	270	0.0037	c.922 others(3): Show c.922C>T	p.Pro others(6): Show p.Pro308Ser	ANKRD6	ENSG00000135299.18	transcript	ENST00000339746.9	protein_coding	11/16	1289/5368	922/2184	308/727	chr6	TogoVar
ANKRD6_chr6_89428152_89638821	89624008	C C	T T	missense_variant missense_variant	MODERATE	HG02647.hp1 HG02647.hp1	a0014 a0014	a0014c0027 a0014c0027	a0014c0027t0001 a0014c0027t0001	a0014c0027t0001g0209 a0014c0027t0001g0209	1	270	0.0037	c.116 others(4): Show c.1169C>T	p.Ala others(6): Show p.Ala390Val	ANKRD6	ENSG00000135299.18	transcript	ENST00000339746.9	protein_coding	12/16	1536/5368	1169/2184	390/727	chr6	TogoVar
ANKRD6_chr6_89428152_89638821	89627583	A A	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02717.hp2 HG03041.hp1 HG03139.hp2 others(2): Show HG02717.hp2 HG03041.hp1 HG03139.hp2 NA19240.hp1 NA20129.hp2	a0007 a0015 a0007 a0015	a0007c0012 a0015c0021 a0007c0012 a0015c0021	a0007c0012t0006 a0015c0021t0006 a0007c0012t0006 a0015c0021t0006	a0007c0012t0006g0105 a0007c0012t0006g0106 a0007c0012t0006g0107 others(2): Show a0007c0012t0006g0105 a0007c0012t0006g0106 a0007c0012t0006g0107 a0007c0012t0006g0108 a0015c0021t0006g0222	5	270	0.0185	c.137 others(4): Show c.1372A>C	p.Met others(6): Show p.Met458Leu	ANKRD6	ENSG00000135299.18	transcript	ENST00000339746.9	protein_coding	14/16	1739/5368	1372/2184	458/727	chr6	TogoVar
ANKRD6_chr6_89428152_89638821	89627681	G G	C C	missense_variant missense_variant	MODERATE	HG02451.hp1 HG02970.hp2 HG02451.hp1 HG02970.hp2	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0001 a0008c0016t0001	a0008c0016t0001g0084 a0008c0016t0001g0085 a0008c0016t0001g0084 a0008c0016t0001g0085	2	270	0.0074	c.147 others(4): Show c.1470G>C	p.Glu others(6): Show p.Glu490Asp	ANKRD6	ENSG00000135299.18	transcript	ENST00000339746.9	protein_coding	14/16	1837/5368	1470/2184	490/727	chr6	TogoVar
ANKRD6_chr6_89428152_89638821	89627692	G G	A A	missense_variant missense_variant	MODERATE	NA19055.hp2 NA19055.hp2	a0012 a0012	a0012c0024 a0012c0024	a0012c0024t0001 a0012c0024t0001	a0012c0024t0001g0249 a0012c0024t0001g0249	1	270	0.0037	c.148 others(4): Show c.1481G>A	p.Arg others(6): Show p.Arg494Gln	ANKRD6	ENSG00000135299.18	transcript	ENST00000339746.9	protein_coding	14/16	1848/5368	1481/2184	494/727	chr6	TogoVar
ANKRD6_chr6_89428152_89638821	89629120	G G	C C	missense_variant missense_variant	MODERATE	HG01168.hp1 HG01168.hp1	a0016 a0016	a0016c0022 a0016c0022	a0016c0022t0003 a0016c0022t0003	a0016c0022t0003g0241 a0016c0022t0003g0241	1	270	0.0037	c.149 others(4): Show c.1494G>C	p.Leu others(6): Show p.Leu498Phe	ANKRD6	ENSG00000135299.18	transcript	ENST00000339746.9	protein_coding	15/16	1861/5368	1494/2184	498/727	chr6	TogoVar
ANKRD6_chr6_89428152_89638821	89630468	G G	A A	missense_variant missense_variant	MODERATE	HG00597.hp2 HG00673.hp1 NA18961.hp1 others(4): Show HG00597.hp2 HG00673.hp1 NA18961.hp1 NA18999.hp2 NA19000.hp1 NA19009.hp2 NA19063.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0002 a0006c0009t0002	a0006c0009t0002g0011 a0006c0009t0002g0016 a0006c0009t0002g0029 others(4): Show a0006c0009t0002g0011 a0006c0009t0002g0016 a0006c0009t0002g0029 a0006c0009t0002g0030 a0006c0009t0002g0042 a0006c0009t0002g0162 a0006c0009t0002g0195	7	270	0.0259	c.164 others(4): Show c.1648G>A	p.Ala others(6): Show p.Ala550Thr	ANKRD6	ENSG00000135299.18	transcript	ENST00000339746.9	protein_coding	16/16	2015/5368	1648/2184	550/727	chr6	TogoVar
ANKRD6_chr6_89428152_89638821	89630727	C C	T T	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00323.hp1 HG00735.hp1 others(17): Show HG00140.hp2 HG00323.hp1 HG00735.hp1 HG00738.hp2 HG01258.hp2 HG01433.hp1 HG01496.hp2 HG01943.hp2 HG01993.hp2 HG02293.hp1 HG03017.hp2 HG03654.hp1 HG03669.hp2 HG03834.hp2 NA18939.hp1 NA18997.hp1 NA19063.hp2 NA19070.hp1 NA19086.hp1 NA19091.hp1	a0005 a0009 a0013 a0005 a0009 a0013	a0005c0004 a0009c0017 a0013c0025 a0005c0004 a0009c0017 a0013c0025	a0005c0004t0004 a0009c0017t0004 a0013c0025t0015 a0005c0004t0004 a0009c0017t0004 a0013c0025t0015	a0005c0004t0004g0002 a0005c0004t0004g0017 a0005c0004t0004g0027 others(17): Show a0005c0004t0004g0002 a0005c0004t0004g0017 a0005c0004t0004g0027 a0005c0004t0004g0038 a0005c0004t0004g0080 a0005c0004t0004g0122 a0005c0004t0004g0123 a0005c0004t0004g0124 a0005c0004t0004g0171 a0005c0004t0004g0256 a0005c0004t0004g0257 a0005c0004t0004g0258 a0005c0004t0004g0259 a0005c0004t0004g0260 a0005c0004t0004g0263 a0005c0004t0004g0265 a0005c0004t0004g0269 a0009c0017t0004g0081 a0009c0017t0004g0115 a0013c0025t0015g0227	20	270	0.0741	c.190 others(4): Show c.1907C>T	p.Pro others(6): Show p.Pro636Leu	ANKRD6	ENSG00000135299.18	transcript	ENST00000339746.9	protein_coding	16/16	2274/5368	1907/2184	636/727	chr6	TogoVar
ANKRD6_chr6_89428152_89638821	89630735	A A	G G	missense_variant missense_variant	MODERATE	HG03195.hp1 HG03209.hp2 HG03195.hp1 HG03209.hp2	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0003 a0010c0018t0003	a0010c0018t0003g0205 a0010c0018t0003g0206 a0010c0018t0003g0205 a0010c0018t0003g0206	2	270	0.0074	c.191 others(4): Show c.1915A>G	p.Ser others(6): Show p.Ser639Gly	ANKRD6	ENSG00000135299.18	transcript	ENST00000339746.9	protein_coding	16/16	2282/5368	1915/2184	639/727	chr6	TogoVar
ANKRD7_chr7_118219704_118247732	118224974	G G	T T	missense_variant missense_variant	MODERATE	HG02280.hp2 HG03041.hp2 HG02280.hp2 HG03041.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0122 a0002c0003t0002g0125 a0002c0003t0002g0122 a0002c0003t0002g0125	2	406	0.0049	c.144 others(3): Show c.144G>T	p.Lys others(5): Show p.Lys48Asn	ANKRD7	ENSG00000106013.15	transcript	ENST00000265224.9	protein_coding	1/7	271/1313	144/765	48/254	chr7	TogoVar
ANKRD7_chr7_118219704_118247732	118234463	A A	G G	missense_variant missense_variant	MODERATE	HG02717.hp1 HG02717.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0195 a0005c0007t0001g0195	1	406	0.0025	c.212 others(3): Show c.212A>G	p.His others(5): Show p.His71Arg	ANKRD7	ENSG00000106013.15	transcript	ENST00000265224.9	protein_coding	2/7	339/1313	212/765	71/254	chr7	TogoVar
ANKRD7_chr7_118219704_118247732	118239914	T T	C C	missense_variant missense_variant	MODERATE	HG01346.hp1 HG01346.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0140 a0004c0006t0002g0140	1	406	0.0025	c.718 others(3): Show c.718T>C	p.Tyr others(6): Show p.Tyr240His	ANKRD7	ENSG00000106013.15	transcript	ENST00000265224.9	protein_coding	6/7	845/1313	718/765	240/254	chr7	TogoVar
ANKRD9_chr14_102496767_102514776	102507265	C C	T T	missense_variant missense_variant	MODERATE	NA18995.hp2 NA18995.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0063 a0003c0004t0006g0063	1	386	0.0026	c.625 others(3): Show c.625G>A	p.Ala others(6): Show p.Ala209Thr	ANKRD9	ENSG00000156381.9	transcript	ENST00000286918.9	protein_coding	4/4	1207/6705	625/954	209/317	chr14	TogoVar
ANKRD9_chr14_102496767_102514776	102507816	C C	T T	missense_variant missense_variant	MODERATE	HG02015.hp1 HG02056.hp2 HG02015.hp1 HG02056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0015 a0002c0002t0008g0015	2	386	0.0052	c.74G others(2): Show c.74G>A	p.Arg others(5): Show p.Arg25Gln	ANKRD9	ENSG00000156381.9	transcript	ENST00000286918.9	protein_coding	4/4	656/6705	74/954	25/317	chr14	TogoVar
ANKS1A_chr6_34884255_35096406	34889541	A A	G G	missense_variant missense_variant	MODERATE	NA19090.hp1 NA19090.hp1	a0007 a0007	a0007c0034 a0007c0034	a0007c0034t0003 a0007c0034t0003	a0007c0034t0003g0290 a0007c0034t0003g0290	1	320	0.0031	c.139 others(3): Show c.139A>G	p.Ser others(5): Show p.Ser47Gly	ANKS1A	ENSG00000064999.16	transcript	ENST00000360359.5	protein_coding	1/24	287/6350	139/3405	47/1134	chr6	TogoVar
ANKS1A_chr6_34884255_35096406	34985096	G G	A A	missense_variant missense_variant	MODERATE	NA20129.hp2 NA20129.hp2	a0015 a0015	a0015c0026 a0015c0026	a0015c0026t0004 a0015c0026t0004	a0015c0026t0004g0203 a0015c0026t0004g0203	1	320	0.0031	c.102 others(4): Show c.1027G>A	p.Ala others(6): Show p.Ala343Thr	ANKS1A	ENSG00000064999.16	transcript	ENST00000360359.5	protein_coding	8/24	1175/6350	1027/3405	343/1134	chr6	TogoVar
ANKS1A_chr6_34884255_35096406	34985133	C C	A A	missense_variant missense_variant	MODERATE	HG03195.hp1 HG03225.hp2 HG03516.hp1 others(4): Show HG03195.hp1 HG03225.hp2 HG03516.hp1 NA18948.hp2 NA18960.hp2 NA18965.hp2 NA18983.hp2	a0003 a0003	a0003c0008 a0003c0011 a0003c0008 a0003c0011	a0003c0008t0001 a0003c0011t0004 a0003c0011t0012 a0003c0008t0001 a0003c0011t0004 a0003c0011t0012	a0003c0008t0001g0046 a0003c0008t0001g0047 a0003c0008t0001g0048 others(4): Show a0003c0008t0001g0046 a0003c0008t0001g0047 a0003c0008t0001g0048 a0003c0008t0001g0049 a0003c0011t0004g0045 a0003c0011t0012g0043 a0003c0011t0012g0044	7	320	0.0219	c.106 others(4): Show c.1064C>A	p.Ala others(6): Show p.Ala355Asp	ANKS1A	ENSG00000064999.16	transcript	ENST00000360359.5	protein_coding	8/24	1212/6350	1064/3405	355/1134	chr6	TogoVar
ANKS1A_chr6_34884255_35096406	34985144	G G	A A	missense_variant missense_variant	MODERATE	NA18522.hp1 NA18522.hp1	a0014 a0014	a0014c0018 a0014c0018	a0014c0018t0005 a0014c0018t0005	a0014c0018t0005g0071 a0014c0018t0005g0071	1	320	0.0031	c.107 others(4): Show c.1075G>A	p.Gly others(6): Show p.Gly359Ser	ANKS1A	ENSG00000064999.16	transcript	ENST00000360359.5	protein_coding	8/24	1223/6350	1075/3405	359/1134	chr6	TogoVar
ANKS1A_chr6_34884255_35096406	34985204	G G	C C	missense_variant missense_variant	MODERATE	NA18963.hp2 NA18963.hp2	a0013 a0013	a0013c0027 a0013c0027	a0013c0027t0022 a0013c0027t0022	a0013c0027t0022g0095 a0013c0027t0022g0095	1	320	0.0031	c.113 others(4): Show c.1135G>C	p.Gly others(6): Show p.Gly379Arg	ANKS1A	ENSG00000064999.16	transcript	ENST00000360359.5	protein_coding	8/24	1283/6350	1135/3405	379/1134	chr6	TogoVar
ANKS1A_chr6_34884255_35096406	34989260	G G	A A	missense_variant missense_variant	MODERATE	HG04199.hp2 HG04199.hp2	a0012 a0012	a0012c0028 a0012c0028	a0012c0028t0026 a0012c0028t0026	a0012c0028t0026g0129 a0012c0028t0026g0129	1	320	0.0031	c.124 others(4): Show c.1246G>A	p.Asp others(6): Show p.Asp416Asn	ANKS1A	ENSG00000064999.16	transcript	ENST00000360359.5	protein_coding	9/24	1394/6350	1246/3405	416/1134	chr6	TogoVar
ANKS1A_chr6_34884255_35096406	34994416	A A	G G	missense_variant missense_variant	MODERATE	HG01109.hp2 HG01109.hp2	a0009 a0009	a0009c0025 a0009c0025	a0009c0025t0003 a0009c0025t0003	a0009c0025t0003g0068 a0009c0025t0003g0068	1	320	0.0031	c.141 others(4): Show c.1417A>G	p.Thr others(6): Show p.Thr473Ala	ANKS1A	ENSG00000064999.16	transcript	ENST00000360359.5	protein_coding	10/24	1565/6350	1417/3405	473/1134	chr6	TogoVar
ANKS1A_chr6_34884255_35096406	35017697	C C	T T	missense_variant missense_variant	MODERATE	HG02109.hp2 HG02109.hp2	a0011 a0011	a0011c0024 a0011c0024	a0011c0024t0013 a0011c0024t0013	a0011c0024t0013g0042 a0011c0024t0013g0042	1	320	0.0031	c.164 others(4): Show c.1648C>T	p.His others(6): Show p.His550Tyr	ANKS1A	ENSG00000064999.16	transcript	ENST00000360359.5	protein_coding	11/24	1796/6350	1648/3405	550/1134	chr6	TogoVar
ANKS1A_chr6_34884255_35096406	35060150	T T	C C	missense_variant missense_variant	MODERATE	HG00408.hp1 HG00408.hp2 HG00423.hp1 others(314): Show HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015	a0001c0001 a0001c0002 a0001c0004 others(30): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0012 a0001c0013 a0001c0017 a0001c0019 a0001c0020 a0001c0021 a0001c0023 a0001c0030 a0001c0031 a0001c0035 a0002c0003 a0002c0010 a0002c0033 a0003c0008 a0003c0011 a0005c0015 a0006c0014 a0007c0034 a0008c0032 a0009c0025 a0010c0029 a0011c0024 a0012c0028 a0013c0027 a0014c0018 a0015c0026	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(75): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0016 a0001c0001t0024 a0001c0001t0025 a0001c0001t0029 a0001c0001t0030 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0010 a0001c0002t0017 a0001c0002t0019 a0001c0002t0020 a0001c0002t0021 a0001c0002t0023 a0001c0002t0027 a0001c0002t0031 a0001c0002t0034 a0001c0002t0035 a0001c0004t0004 a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 a0001c0005t0007 a0001c0006t0001 a0001c0006t0002 a0001c0006t0005 a0001c0007t0005 a0001c0007t0008 a0001c0009t0005 a0001c0009t0010 a0001c0009t0036 a0001c0012t0004 a0001c0013t0001 a0001c0013t0002 a0001c0017t0003 a0001c0019t0002 a0001c0020t0003 a0001c0021t0011 a0001c0023t0001 a0001c0030t0013 a0001c0031t0001 a0001c0035t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0005 a0002c0003t0009 a0002c0003t0014 a0002c0003t0028 a0002c0003t0032 a0002c0003t0033 a0002c0003t0037 a0002c0010t0001 a0002c0010t0015 a0002c0010t0018 a0002c0033t0003 a0003c0008t0001 a0003c0011t0004 a0003c0011t0012 a0005c0015t0008 a0006c0014t0004 a0007c0034t0003 a0008c0032t0001 a0009c0025t0003 a0010c0029t0007 a0011c0024t0013 a0012c0028t0026 a0013c0027t0022 a0014c0018t0005 a0015c0026t0004	a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0102 others(314): Show a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0237 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0003g0097 a0001c0001t0003g0152 a0001c0001t0003g0179 a0001c0001t0004g0235 a0001c0001t0004g0236 a0001c0001t0005g0113 a0001c0001t0005g0115 a0001c0001t0005g0127 a0001c0001t0005g0128 a0001c0001t0005g0130 a0001c0001t0005g0131 a0001c0001t0005g0132 a0001c0001t0005g0157 a0001c0001t0005g0180 a0001c0001t0005g0181 a0001c0001t0005g0183 a0001c0001t0005g0241 a0001c0001t0006g0094 a0001c0001t0006g0099 a0001c0001t0006g0100 a0001c0001t0006g0103 a0001c0001t0006g0104 a0001c0001t0006g0105 a0001c0001t0006g0106 a0001c0001t0006g0107 a0001c0001t0006g0108 a0001c0001t0006g0109 a0001c0001t0006g0110 a0001c0001t0006g0111 a0001c0001t0006g0112 a0001c0001t0006g0125 a0001c0001t0006g0187 a0001c0001t0011g0242 a0001c0001t0016g0252 a0001c0001t0024g0145 a0001c0001t0025g0193 a0001c0001t0029g0186 a0001c0001t0030g0188 a0001c0002t0001g0007 a0001c0002t0001g0020 a0001c0002t0001g0025 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0062 a0001c0002t0001g0087 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0074 a0001c0002t0002g0076 a0001c0002t0002g0079 a0001c0002t0002g0114 a0001c0002t0002g0172 a0001c0002t0002g0320 a0001c0002t0003g0028 a0001c0002t0003g0163 a0001c0002t0004g0052 a0001c0002t0004g0073 a0001c0002t0005g0050 a0001c0002t0005g0051 a0001c0002t0005g0053 a0001c0002t0005g0054 a0001c0002t0005g0055 a0001c0002t0005g0065 a0001c0002t0005g0066 a0001c0002t0005g0069 a0001c0002t0005g0070 a0001c0002t0005g0078 a0001c0002t0005g0082 a0001c0002t0010g0072 a0001c0002t0017g0039 a0001c0002t0019g0021 a0001c0002t0020g0006 a0001c0002t0021g0001 a0001c0002t0023g0080 a0001c0002t0027g0064 a0001c0002t0031g0059 a0001c0002t0034g0077 a0001c0002t0035g0081 a0001c0004t0004g0199 a0001c0004t0004g0211 a0001c0004t0004g0213 a0001c0004t0004g0215 a0001c0004t0004g0219 a0001c0004t0004g0222 a0001c0004t0004g0223 a0001c0004t0004g0224 a0001c0004t0004g0225 a0001c0004t0004g0226 a0001c0004t0004g0227 a0001c0004t0004g0228 a0001c0004t0004g0229 a0001c0004t0004g0238 a0001c0004t0004g0240 a0001c0004t0004g0245 a0001c0004t0004g0246 a0001c0004t0004g0251 a0001c0005t0001g0202 a0001c0005t0001g0220 a0001c0005t0002g0185 a0001c0005t0004g0214 a0001c0005t0004g0218 a0001c0005t0004g0247 a0001c0005t0007g0089 a0001c0005t0007g0092 a0001c0005t0007g0171 a0001c0005t0007g0196 a0001c0005t0007g0198 a0001c0005t0007g0230 a0001c0005t0007g0231 a0001c0005t0007g0232 a0001c0005t0007g0233 a0001c0005t0007g0234 a0001c0005t0007g0248 a0001c0005t0007g0249 a0001c0006t0001g0197 a0001c0006t0002g0205 a0001c0006t0002g0207 a0001c0006t0002g0209 a0001c0006t0002g0210 a0001c0006t0002g0243 a0001c0006t0002g0244 a0001c0006t0005g0208 a0001c0007t0005g0058 a0001c0007t0005g0086 a0001c0007t0008g0005 a0001c0007t0008g0063 a0001c0007t0008g0204 a0001c0009t0005g0088 a0001c0009t0010g0083 a0001c0009t0010g0084 a0001c0009t0036g0085 a0001c0012t0004g0216 a0001c0012t0004g0217 a0001c0012t0004g0239 a0001c0013t0001g0164 a0001c0013t0001g0194 a0001c0013t0002g0150 a0001c0017t0003g0221 a0001c0019t0002g0029 a0001c0020t0003g0022 a0001c0021t0011g0067 a0001c0023t0001g0075 a0001c0030t0013g0093 a0001c0031t0001g0096 a0001c0035t0001g0206 a0002c0003t0001g0258 a0002c0003t0001g0259 a0002c0003t0001g0308 a0002c0003t0002g0262 a0002c0003t0002g0268 a0002c0003t0002g0279 a0002c0003t0002g0281 a0002c0003t0002g0282 a0002c0003t0002g0291 a0002c0003t0002g0296 a0002c0003t0002g0301 a0002c0003t0002g0303 a0002c0003t0002g0304 a0002c0003t0002g0305 a0002c0003t0002g0313 a0002c0003t0003g0256 a0002c0003t0003g0257 a0002c0003t0003g0263 a0002c0003t0003g0264 a0002c0003t0003g0265 a0002c0003t0003g0266 a0002c0003t0003g0267 a0002c0003t0003g0269 a0002c0003t0003g0270 a0002c0003t0003g0271 a0002c0003t0003g0272 a0002c0003t0003g0273 a0002c0003t0003g0274 a0002c0003t0003g0275 a0002c0003t0003g0276 a0002c0003t0003g0278 a0002c0003t0003g0284 a0002c0003t0003g0288 a0002c0003t0003g0289 a0002c0003t0003g0292 a0002c0003t0003g0293 a0002c0003t0003g0294 a0002c0003t0003g0295 a0002c0003t0003g0297 a0002c0003t0003g0298 a0002c0003t0003g0300 a0002c0003t0003g0302 a0002c0003t0003g0310 a0002c0003t0003g0311 a0002c0003t0003g0312 a0002c0003t0005g0260 a0002c0003t0005g0315 a0002c0003t0009g0280 a0002c0003t0009g0283 a0002c0003t0009g0287 a0002c0003t0009g0299 a0002c0003t0014g0317 a0002c0003t0014g0319 a0002c0003t0028g0285 a0002c0003t0032g0318 a0002c0003t0033g0286 a0002c0003t0037g0261 a0002c0010t0001g0307 a0002c0010t0015g0306 a0002c0010t0015g0309 a0002c0010t0018g0316 a0002c0033t0003g0277 a0003c0008t0001g0046 a0003c0008t0001g0047 a0003c0008t0001g0048 a0003c0008t0001g0049 a0003c0011t0004g0045 a0003c0011t0012g0043 a0003c0011t0012g0044 a0005c0015t0008g0212 a0005c0015t0008g0250 a0006c0014t0004g0060 a0006c0014t0004g0061 a0007c0034t0003g0290 a0008c0032t0001g0314 a0009c0025t0003g0068 a0010c0029t0007g0098 a0011c0024t0013g0042 a0012c0028t0026g0129 a0013c0027t0022g0095 a0014c0018t0005g0071 a0015c0026t0004g0203	317	320	0.9906	c.208 others(4): Show c.2081T>C	p.Leu others(6): Show p.Leu694Ser	ANKS1A	ENSG00000064999.16	transcript	ENST00000360359.5	protein_coding	13/24	2229/6350	2081/3405	694/1134	chr6	TogoVar
ANKS1A_chr6_34884255_35096406	35081136	G G	A A	missense_variant missense_variant	MODERATE	HG02717.hp2 HG03209.hp2 HG02717.hp2 HG03209.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0008 a0005c0015t0008	a0005c0015t0008g0212 a0005c0015t0008g0250 a0005c0015t0008g0212 a0005c0015t0008g0250	2	320	0.0063	c.268 others(4): Show c.2687G>A	p.Arg others(6): Show p.Arg896Gln	ANKS1A	ENSG00000064999.16	transcript	ENST00000360359.5	protein_coding	17/24	2835/6350	2687/3405	896/1134	chr6	TogoVar
ANKS1A_chr6_34884255_35096406	35084146	G G	A A	missense_variant missense_variant	MODERATE	HG02572.hp1 HG02572.hp1	a0008 a0008	a0008c0032 a0008c0032	a0008c0032t0001 a0008c0032t0001	a0008c0032t0001g0314 a0008c0032t0001g0314	1	320	0.0031	c.302 others(4): Show c.3020G>A	p.Arg others(7): Show p.Arg1007Gln	ANKS1A	ENSG00000064999.16	transcript	ENST00000360359.5	protein_coding	21/24	3168/6350	3020/3405	1007/1134	chr6	TogoVar
ANKS1A_chr6_34884255_35096406	35085922	G G	A A	missense_variant missense_variant	MODERATE	HG01256.hp1 HG01256.hp1	a0010 a0010	a0010c0029 a0010c0029	a0010c0029t0007 a0010c0029t0007	a0010c0029t0007g0098 a0010c0029t0007g0098	1	320	0.0031	c.328 others(4): Show c.3289G>A	p.Val others(7): Show p.Val1097Met	ANKS1A	ENSG00000064999.16	transcript	ENST00000360359.5	protein_coding	22/24	3437/6350	3289/3405	1097/1134	chr6	TogoVar
ANKS1A_chr6_34884255_35096406	35086968	T T	C C	missense_variant missense_variant	MODERATE	HG01175.hp2 HG01255.hp2 HG01175.hp2 HG01255.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0004 a0006c0014t0004	a0006c0014t0004g0060 a0006c0014t0004g0061 a0006c0014t0004g0060 a0006c0014t0004g0061	2	320	0.0063	c.332 others(4): Show c.3320T>C	p.Met others(7): Show p.Met1107Thr	ANKS1A	ENSG00000064999.16	transcript	ENST00000360359.5	protein_coding	23/24	3468/6350	3320/3405	1107/1134	chr6	TogoVar
ANKS1B_chr12_98738974_99989936	99246328	T T	C C	missense_variant missense_variant	MODERATE	HG02895.hp1 HG02895.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0005 a0003c0008t0005	a0003c0008t0005g0009 a0003c0008t0005g0009	1	48	0.0208	c.229 others(4): Show c.2293A>G	p.Ser others(6): Show p.Ser765Gly	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	13/27	2992/6322	2293/3858	765/1285	chr12	TogoVar
ANKS1B_chr12_98738974_99989936	99246381	G G	C C	missense_variant missense_variant	MODERATE	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0004 a0005c0011t0004	a0005c0011t0004g0034 a0005c0011t0004g0034	1	48	0.0208	c.224 others(4): Show c.2240C>G	p.Ser others(6): Show p.Ser747Cys	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	13/27	2939/6322	2240/3858	747/1285	chr12	TogoVar
ANKS1B_chr12_98738974_99989936	99655173	A A	G G	missense_variant missense_variant	MODERATE	HG02273.hp2 HG02273.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0025 a0004c0010t0001g0025	1	48	0.0208	c.116 others(4): Show c.1166T>C	p.Val others(6): Show p.Val389Ala	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	9/27	1865/6322	1166/3858	389/1285	chr12	TogoVar
ANKS1B_chr12_98738974_99989936	99775647	C C	T T	missense_variant missense_variant	MODERATE	HG02895.hp1 HG02922.hp1 HG03540.hp1 others(1): Show HG02895.hp1 HG02922.hp1 HG03540.hp1 HG03579.hp2	a0002 a0003 a0002 a0003	a0002c0005 a0002c0009 a0003c0008 a0002c0005 a0002c0009 a0003c0008	a0002c0005t0002 a0002c0005t0021 a0002c0009t0008 others(1): Show a0002c0005t0002 a0002c0005t0021 a0002c0009t0008 a0003c0008t0005	a0002c0005t0002g0040 a0002c0005t0021g0043 a0002c0009t0008g0026 others(1): Show a0002c0005t0002g0040 a0002c0005t0021g0043 a0002c0009t0008g0026 a0003c0008t0005g0009	4	48	0.0833	c.862 others(3): Show c.862G>A	p.Val others(6): Show p.Val288Met	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	7/27	1561/6322	862/3858	288/1285	chr12	TogoVar
ANKS3_chr16_4691511_4739271	4698010	C C	T T	missense_variant missense_variant	MODERATE	HG01891.hp1 HG02109.hp1 HG02165.hp2 others(16): Show HG01891.hp1 HG02109.hp1 HG02165.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02809.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG06807.hp1 NA18906.hp1 NA19043.hp2 NA20129.hp1 NA21309.hp1	a0003 a0010 a0003 a0010	a0003c0003 a0003c0018 a0010c0019 a0003c0003 a0003c0018 a0010c0019	a0003c0003t0004 a0003c0003t0007 a0003c0018t0001 others(1): Show a0003c0003t0004 a0003c0003t0007 a0003c0018t0001 a0010c0019t0007	a0003c0003t0004g0326 a0003c0003t0004g0327 a0003c0003t0004g0328 others(16): Show a0003c0003t0004g0326 a0003c0003t0004g0327 a0003c0003t0004g0328 a0003c0003t0004g0329 a0003c0003t0004g0330 a0003c0003t0004g0331 a0003c0003t0004g0332 a0003c0003t0004g0334 a0003c0003t0004g0335 a0003c0003t0004g0336 a0003c0003t0004g0337 a0003c0003t0004g0339 a0003c0003t0007g0325 a0003c0003t0007g0338 a0003c0003t0007g0340 a0003c0003t0007g0341 a0003c0003t0007g0342 a0003c0018t0001g0218 a0010c0019t0007g0346	19	374	0.0508	c.177 others(4): Show c.1777G>A	p.Ala others(6): Show p.Ala593Thr	ANKS3	ENSG00000168096.15	transcript	ENST00000304283.9	protein_coding	15/18	2181/2772	1777/1971	593/656	chr16	TogoVar
ANKS3_chr16_4691511_4739271	4698542	C C	T T	missense_variant missense_variant	MODERATE	NA18973.hp1 NA19011.hp2 NA18973.hp1 NA19011.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0017 a0007c0011t0001 a0007c0011t0017	a0007c0011t0001g0273 a0007c0011t0017g0352 a0007c0011t0001g0273 a0007c0011t0017g0352	2	374	0.0054	c.160 others(4): Show c.1609G>A	p.Ala others(6): Show p.Ala537Thr	ANKS3	ENSG00000168096.15	transcript	ENST00000304283.9	protein_coding	14/18	2013/2772	1609/1971	537/656	chr16	TogoVar
ANKS3_chr16_4691511_4739271	4698850	C C	T T	missense_variant missense_variant	MODERATE	NA18612.hp2 NA18612.hp2	a0011 a0011	a0011c0023 a0011c0023	a0011c0023t0003 a0011c0023t0003	a0011c0023t0003g0134 a0011c0023t0003g0134	1	374	0.0027	c.150 others(4): Show c.1501G>A	p.Ala others(6): Show p.Ala501Thr	ANKS3	ENSG00000168096.15	transcript	ENST00000304283.9	protein_coding	13/18	1905/2772	1501/1971	501/656	chr16	TogoVar
ANKS3_chr16_4691511_4739271	4701034	T T	C C	missense_variant missense_variant	MODERATE	HG03098.hp2 HG03130.hp1 HG03579.hp2 HG03098.hp2 HG03130.hp1 HG03579.hp2	a0006 a0012 a0006 a0012	a0006c0010 a0012c0017 a0006c0010 a0012c0017	a0006c0010t0009 a0012c0017t0016 a0006c0010t0009 a0012c0017t0016	a0006c0010t0009g0113 a0006c0010t0009g0115 a0012c0017t0016g0323 a0006c0010t0009g0113 a0006c0010t0009g0115 a0012c0017t0016g0323	3	374	0.0080	c.122 others(4): Show c.1220A>G	p.Asp others(6): Show p.Asp407Gly	ANKS3	ENSG00000168096.15	transcript	ENST00000304283.9	protein_coding	11/18	1624/2772	1220/1971	407/656	chr16	TogoVar
ANKS3_chr16_4691511_4739271	4701044	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(190): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02622.hp1 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG06807.hp1 NA18612.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18981.hp2 NA18984.hp2 NA18985.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA18999.hp1 NA19000.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19074.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19086.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1	a0002 a0003 a0005 others(9): Show a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0012 a0013 a0014 a0015 a0016	a0002c0002 a0002c0004 a0002c0009 others(14): Show a0002c0002 a0002c0004 a0002c0009 a0002c0016 a0002c0022 a0003c0003 a0003c0018 a0005c0008 a0006c0010 a0007c0011 a0008c0013 a0009c0014 a0012c0017 a0013c0020 a0014c0025 a0015c0015 a0016c0026	a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 others(24): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0012 a0002c0002t0019 a0002c0002t0020 a0002c0004t0001 a0002c0004t0005 a0002c0004t0006 a0002c0009t0001 a0002c0016t0018 a0002c0022t0001 a0003c0003t0004 a0003c0003t0007 a0003c0018t0001 a0005c0008t0001 a0006c0010t0009 a0007c0011t0001 a0007c0011t0017 a0008c0013t0001 a0009c0014t0009 a0012c0017t0016 a0013c0020t0001 a0014c0025t0001 a0015c0015t0005 a0016c0026t0001	a0002c0002t0001g0001 a0002c0002t0001g0012 a0002c0002t0001g0013 others(180): Show a0002c0002t0001g0001 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0117 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0170 a0002c0002t0001g0175 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0182 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0264 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0272 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0002t0001g0313 a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0001g0317 a0002c0002t0003g0290 a0002c0002t0005g0082 a0002c0002t0006g0324 a0002c0002t0006g0343 a0002c0002t0012g0018 a0002c0002t0019g0354 a0002c0002t0020g0355 a0002c0004t0001g0169 a0002c0004t0001g0184 a0002c0004t0001g0233 a0002c0004t0001g0268 a0002c0004t0001g0312 a0002c0004t0001g0314 a0002c0004t0001g0318 a0002c0004t0005g0053 a0002c0004t0005g0076 a0002c0004t0006g0017 a0002c0004t0006g0345 a0002c0004t0006g0350 a0002c0004t0006g0351 a0002c0009t0001g0176 a0002c0009t0001g0177 a0002c0016t0018g0353 a0002c0022t0001g0132 a0003c0003t0004g0326 a0003c0003t0004g0327 a0003c0003t0004g0328 a0003c0003t0004g0329 a0003c0003t0004g0330 a0003c0003t0004g0331 a0003c0003t0004g0332 a0003c0003t0004g0334 a0003c0003t0004g0335 a0003c0003t0004g0336 a0003c0003t0004g0337 a0003c0003t0004g0339 a0003c0003t0007g0325 a0003c0003t0007g0338 a0003c0003t0007g0340 a0003c0003t0007g0341 a0003c0003t0007g0342 a0003c0018t0001g0218 a0005c0008t0001g0011 a0005c0008t0001g0181 a0006c0010t0009g0113 a0006c0010t0009g0115 a0007c0011t0001g0273 a0007c0011t0017g0352 a0008c0013t0001g0310 a0008c0013t0001g0311 a0009c0014t0009g0114 a0012c0017t0016g0323 a0013c0020t0001g0289 a0014c0025t0001g0213 a0015c0015t0005g0070 a0016c0026t0001g0278	193	374	0.5160	c.121 others(4): Show c.1210G>A	p.Ala others(6): Show p.Ala404Thr	ANKS3	ENSG00000168096.15	transcript	ENST00000304283.9	protein_coding	11/18	1614/2772	1210/1971	404/656	chr16	TogoVar
ANKS3_chr16_4691511_4739271	4701125	G G	A A	missense_variant missense_variant	MODERATE	NA19011.hp1 NA19011.hp1	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0001 a0013c0020t0001	a0013c0020t0001g0289 a0013c0020t0001g0289	1	374	0.0027	c.112 others(4): Show c.1129C>T	p.His others(6): Show p.His377Tyr	ANKS3	ENSG00000168096.15	transcript	ENST00000304283.9	protein_coding	11/18	1533/2772	1129/1971	377/656	chr16	TogoVar
ANKS3_chr16_4691511_4739271	4705107	G G	A A	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0310 a0008c0013t0001g0311 a0008c0013t0001g0310 a0008c0013t0001g0311	2	374	0.0054	c.856 others(3): Show c.856C>T	p.Arg others(6): Show p.Arg286Trp	ANKS3	ENSG00000168096.15	transcript	ENST00000304283.9	protein_coding	8/18	1260/2772	856/1971	286/656	chr16	TogoVar
ANKS3_chr16_4691511_4739271	4705178	C C	A A	missense_variant missense_variant	MODERATE	NA18968.hp2 NA18968.hp2	a0014 a0014	a0014c0025 a0014c0025	a0014c0025t0001 a0014c0025t0001	a0014c0025t0001g0213 a0014c0025t0001g0213	1	374	0.0027	c.785 others(3): Show c.785G>T	p.Gly others(6): Show p.Gly262Val	ANKS3	ENSG00000168096.15	transcript	ENST00000304283.9	protein_coding	8/18	1189/2772	785/1971	262/656	chr16	TogoVar
ANKS3_chr16_4691511_4739271	4714116	A A	C C	missense_variant missense_variant	MODERATE	HG00639.hp1 HG01074.hp1 HG01109.hp2 others(5): Show HG00639.hp1 HG01074.hp1 HG01109.hp2 HG01496.hp2 HG01993.hp1 HG02145.hp2 HG03239.hp2 NA19054.hp2	a0004 a0015 a0004 a0015	a0004c0005 a0015c0015 a0004c0005 a0015c0015	a0004c0005t0002 a0004c0005t0010 a0015c0015t0005 a0004c0005t0002 a0004c0005t0010 a0015c0015t0005	a0004c0005t0002g0072 a0004c0005t0002g0073 a0004c0005t0002g0074 others(5): Show a0004c0005t0002g0072 a0004c0005t0002g0073 a0004c0005t0002g0074 a0004c0005t0002g0075 a0004c0005t0002g0096 a0004c0005t0010g0069 a0004c0005t0010g0071 a0015c0015t0005g0070	8	374	0.0214	c.644 others(3): Show c.644T>G	p.Met others(6): Show p.Met215Arg	ANKS3	ENSG00000168096.15	transcript	ENST00000304283.9	protein_coding	7/18	1048/2772	644/1971	215/656	chr16	TogoVar

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