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
ATP8B4_chr15_49853238_50124233	49934144	C C	T T	synonymous_variant synonymous_variant	LOW	HG02257.hp2 HG03209.hp2 NA19030.hp1 HG02257.hp2 HG03209.hp2 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0014 a0004c0010 a0001c0014 a0004c0010	a0001c0014t0001 a0004c0010t0005 a0001c0014t0001 a0004c0010t0005	a0001c0014t0001g0099 a0004c0010t0005g0098 a0004c0010t0005g0152 a0001c0014t0001g0099 a0004c0010t0005g0098 a0004c0010t0005g0152	3	254	0.0118	c.132 others(4): Show c.1326G>A	p.Ala others(6): Show p.Ala442Ala	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	15/28	1479/5688	1326/3579	442/1192	chr15	TogoVar
ATP8B4_chr15_49853238_50124233	49979685	G G	A A	synonymous_variant synonymous_variant	LOW	NA19002.hp1 NA19002.hp1	a0003 a0003	a0003c0019 a0003c0019	a0003c0019t0001 a0003c0019t0001	a0003c0019t0001g0107 a0003c0019t0001g0107	1	254	0.0039	c.966 others(3): Show c.966C>T	p.Ser others(6): Show p.Ser322Ser	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	12/28	1119/5688	966/3579	322/1192	chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50010917	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01257.hp2 HG01257.hp2	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0002 a0002c0021t0002	a0002c0021t0002g0039 a0002c0021t0002g0039	1	254	0.0039	c.363 others(3): Show c.363A>G	p.Lys others(6): Show p.Lys121Lys	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	7/28	516/5688	363/3579	121/1192	chr15	TogoVar
ATP9A_chr20_51591514_51773390	51604848	G G	A A	synonymous_variant synonymous_variant	LOW	HG01993.hp2 HG02004.hp2 HG01993.hp2 HG02004.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0023 a0001c0007t0001g0295 a0001c0007t0001g0023 a0001c0007t0001g0295	2	312	0.0064	c.297 others(4): Show c.2976C>T	p.Ile others(6): Show p.Ile992Ile	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	27/28	2997/7862	2976/3144	992/1047	chr20	TogoVar
ATP9A_chr20_51591514_51773390	51608617	T T	A A	synonymous_variant synonymous_variant	LOW	HG02723.hp1 HG03130.hp1 HG03471.hp2 HG02723.hp1 HG03130.hp1 HG03471.hp2	a0001 a0001	a0001c0014 a0001c0015 a0001c0018 a0001c0014 a0001c0015 a0001c0018	a0001c0014t0025 a0001c0015t0015 a0001c0018t0009 a0001c0014t0025 a0001c0015t0015 a0001c0018t0009	a0001c0014t0025g0160 a0001c0015t0015g0017 a0001c0018t0009g0154 a0001c0014t0025g0160 a0001c0015t0015g0017 a0001c0018t0009g0154	3	312	0.0096	c.264 others(4): Show c.2646A>T	p.Thr others(6): Show p.Thr882Thr	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	25/28	2667/7862	2646/3144	882/1047	chr20	TogoVar
ATP9A_chr20_51591514_51773390	51618980	G G	A A	synonymous_variant synonymous_variant	LOW	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0105 a0001c0013t0002g0105	1	312	0.0032	c.217 others(4): Show c.2179C>T	p.Leu others(6): Show p.Leu727Leu	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	20/28	2200/7862	2179/3144	727/1047	chr20	TogoVar
ATP9A_chr20_51591514_51773390	51619038	G G	A A	synonymous_variant synonymous_variant	LOW	HG00280.hp1 HG00408.hp2 HG00423.hp2 others(34): Show HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00639.hp1 HG00741.hp1 HG01074.hp1 HG01106.hp2 HG01168.hp2 HG01169.hp1 HG01934.hp1 HG01981.hp1 HG01993.hp1 HG02027.hp1 HG02257.hp2 HG02293.hp2 HG02683.hp1 HG02818.hp2 HG03239.hp2 HG03486.hp1 HG03669.hp1 HG03688.hp2 NA18943.hp2 NA18944.hp1 NA18947.hp2 NA18953.hp2 NA18954.hp1 NA18968.hp1 NA18973.hp2 NA18983.hp2 NA18986.hp2 NA19004.hp2 NA19009.hp1 NA19077.hp2 NA19080.hp1 NA19091.hp1 NA20805.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0001c0008 a0003c0021 a0001c0004 a0001c0008 a0003c0021	a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 others(14): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0008 a0001c0004t0009 a0001c0004t0017 a0001c0004t0025 a0001c0004t0029 a0001c0004t0033 a0001c0004t0037 a0001c0004t0041 a0001c0004t0047 a0001c0004t0067 a0001c0004t0070 a0001c0004t0071 a0001c0008t0004 a0003c0021t0009	a0001c0004t0001g0177 a0001c0004t0001g0178 a0001c0004t0002g0203 others(34): Show a0001c0004t0001g0177 a0001c0004t0001g0178 a0001c0004t0002g0203 a0001c0004t0004g0089 a0001c0004t0004g0109 a0001c0004t0004g0149 a0001c0004t0004g0162 a0001c0004t0004g0167 a0001c0004t0004g0171 a0001c0004t0004g0174 a0001c0004t0004g0183 a0001c0004t0004g0184 a0001c0004t0004g0185 a0001c0004t0004g0187 a0001c0004t0004g0202 a0001c0004t0004g0230 a0001c0004t0004g0288 a0001c0004t0004g0311 a0001c0004t0008g0227 a0001c0004t0008g0289 a0001c0004t0009g0179 a0001c0004t0009g0180 a0001c0004t0017g0169 a0001c0004t0017g0170 a0001c0004t0025g0175 a0001c0004t0029g0146 a0001c0004t0029g0164 a0001c0004t0033g0301 a0001c0004t0037g0064 a0001c0004t0041g0182 a0001c0004t0047g0181 a0001c0004t0067g0212 a0001c0004t0070g0165 a0001c0004t0071g0097 a0001c0008t0004g0137 a0001c0008t0004g0306 a0003c0021t0009g0195	37	312	0.1186	c.212 others(4): Show c.2121C>T	p.Thr others(6): Show p.Thr707Thr	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	20/28	2142/7862	2121/3144	707/1047	chr20	TogoVar
ATP9A_chr20_51591514_51773390	51656992	G G	A A	synonymous_variant synonymous_variant	LOW	HG02280.hp2 HG02486.hp2 HG02559.hp2 others(5): Show HG02280.hp2 HG02486.hp2 HG02559.hp2 HG02717.hp2 HG02922.hp1 HG03041.hp1 HG06807.hp2 NA18522.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0009 a0001c0005t0043 others(1): Show a0001c0005t0008 a0001c0005t0009 a0001c0005t0043 a0001c0005t0046	a0001c0005t0008g0003 a0001c0005t0008g0046 a0001c0005t0008g0111 others(5): Show a0001c0005t0008g0003 a0001c0005t0008g0046 a0001c0005t0008g0111 a0001c0005t0008g0113 a0001c0005t0008g0114 a0001c0005t0009g0309 a0001c0005t0043g0002 a0001c0005t0046g0116	8	312	0.0256	c.145 others(4): Show c.1452C>T	p.Ala others(6): Show p.Ala484Ala	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	14/28	1473/7862	1452/3144	484/1047	chr20	TogoVar
ATP9A_chr20_51591514_51773390	51671197	C C	T T	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00323.hp1 HG00408.hp1 others(179): Show HG00099.hp1 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02293.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02683.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG03041.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18943.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0007 others(7): Show a0001c0001 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0013 a0001c0017 a0002c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(57): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0049 a0001c0001t0055 a0001c0001t0058 a0001c0001t0059 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0069 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0080 a0001c0001t0081 a0001c0006t0003 a0001c0007t0001 a0001c0008t0004 a0001c0009t0003 a0001c0009t0007 a0001c0010t0003 a0001c0011t0048 a0001c0013t0002 a0001c0017t0001 a0002c0012t0002	a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0027 others(179): Show a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0077 a0001c0001t0001g0094 a0001c0001t0001g0147 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0264 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0282 a0001c0001t0001g0287 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0298 a0001c0001t0001g0303 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0093 a0001c0001t0002g0191 a0001c0001t0002g0199 a0001c0001t0002g0223 a0001c0001t0002g0241 a0001c0001t0002g0246 a0001c0001t0002g0250 a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0002g0271 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0284 a0001c0001t0002g0296 a0001c0001t0002g0305 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0057 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0079 a0001c0001t0003g0084 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0166 a0001c0001t0003g0205 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0218 a0001c0001t0003g0220 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0263 a0001c0001t0003g0266 a0001c0001t0003g0302 a0001c0001t0004g0063 a0001c0001t0004g0106 a0001c0001t0004g0297 a0001c0001t0006g0011 a0001c0001t0006g0022 a0001c0001t0006g0059 a0001c0001t0006g0062 a0001c0001t0006g0098 a0001c0001t0006g0104 a0001c0001t0006g0229 a0001c0001t0006g0258 a0001c0001t0006g0262 a0001c0001t0006g0276 a0001c0001t0006g0299 a0001c0001t0007g0071 a0001c0001t0007g0267 a0001c0001t0008g0072 a0001c0001t0008g0082 a0001c0001t0009g0004 a0001c0001t0009g0009 a0001c0001t0009g0020 a0001c0001t0009g0078 a0001c0001t0010g0034 a0001c0001t0010g0192 a0001c0001t0010g0272 a0001c0001t0011g0021 a0001c0001t0011g0099 a0001c0001t0011g0101 a0001c0001t0011g0139 a0001c0001t0011g0163 a0001c0001t0011g0245 a0001c0001t0012g0080 a0001c0001t0012g0132 a0001c0001t0012g0206 a0001c0001t0013g0001 a0001c0001t0013g0051 a0001c0001t0013g0060 a0001c0001t0013g0128 a0001c0001t0013g0134 a0001c0001t0013g0136 a0001c0001t0017g0041 a0001c0001t0018g0239 a0001c0001t0018g0254 a0001c0001t0019g0248 a0001c0001t0019g0294 a0001c0001t0019g0308 a0001c0001t0022g0028 a0001c0001t0022g0103 a0001c0001t0023g0036 a0001c0001t0023g0042 a0001c0001t0023g0100 a0001c0001t0024g0007 a0001c0001t0024g0018 a0001c0001t0024g0045 a0001c0001t0025g0019 a0001c0001t0026g0043 a0001c0001t0026g0285 a0001c0001t0030g0214 a0001c0001t0030g0257 a0001c0001t0034g0159 a0001c0001t0035g0194 a0001c0001t0036g0096 a0001c0001t0038g0025 a0001c0001t0039g0122 a0001c0001t0040g0024 a0001c0001t0042g0148 a0001c0001t0044g0251 a0001c0001t0045g0249 a0001c0001t0049g0310 a0001c0001t0055g0260 a0001c0001t0058g0076 a0001c0001t0059g0256 a0001c0001t0061g0014 a0001c0001t0062g0292 a0001c0001t0063g0115 a0001c0001t0064g0050 a0001c0001t0065g0123 a0001c0001t0066g0117 a0001c0001t0069g0265 a0001c0001t0072g0217 a0001c0001t0073g0219 a0001c0001t0074g0141 a0001c0001t0075g0074 a0001c0001t0076g0213 a0001c0001t0077g0008 a0001c0001t0078g0038 a0001c0001t0080g0010 a0001c0001t0081g0058 a0001c0006t0003g0231 a0001c0006t0003g0232 a0001c0007t0001g0023 a0001c0007t0001g0295 a0001c0008t0004g0137 a0001c0008t0004g0306 a0001c0009t0003g0283 a0001c0009t0007g0233 a0001c0010t0003g0075 a0001c0011t0048g0209 a0001c0013t0002g0105 a0001c0017t0001g0304 a0002c0012t0002g0240	182	312	0.5833	c.109 others(4): Show c.1098G>A	p.Ser others(6): Show p.Ser366Ser	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	12/28	1119/7862	1098/3144	366/1047	chr20	TogoVar
ATP9A_chr20_51591514_51773390	51671251	A A	G G	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(224): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03139.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(10): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0013 a0001c0014 a0001c0017 a0001c0019 a0002c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(78): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0049 a0001c0001t0055 a0001c0001t0058 a0001c0001t0059 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0069 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0080 a0001c0001t0081 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0011 a0001c0002t0013 a0001c0002t0015 a0001c0002t0016 a0001c0002t0020 a0001c0002t0021 a0001c0002t0027 a0001c0002t0028 a0001c0002t0032 a0001c0002t0052 a0001c0002t0053 a0001c0002t0056 a0001c0002t0057 a0001c0002t0068 a0001c0006t0003 a0001c0007t0001 a0001c0008t0004 a0001c0009t0003 a0001c0009t0007 a0001c0010t0003 a0001c0011t0048 a0001c0013t0002 a0001c0014t0025 a0001c0017t0001 a0001c0019t0010 a0002c0012t0002	a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0027 others(224): Show a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0077 a0001c0001t0001g0094 a0001c0001t0001g0147 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0264 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0282 a0001c0001t0001g0287 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0298 a0001c0001t0001g0303 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0093 a0001c0001t0002g0191 a0001c0001t0002g0199 a0001c0001t0002g0223 a0001c0001t0002g0241 a0001c0001t0002g0246 a0001c0001t0002g0250 a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0002g0271 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0284 a0001c0001t0002g0296 a0001c0001t0002g0305 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0057 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0079 a0001c0001t0003g0084 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0166 a0001c0001t0003g0205 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0218 a0001c0001t0003g0220 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0263 a0001c0001t0003g0266 a0001c0001t0003g0302 a0001c0001t0004g0063 a0001c0001t0004g0106 a0001c0001t0004g0297 a0001c0001t0006g0011 a0001c0001t0006g0022 a0001c0001t0006g0059 a0001c0001t0006g0062 a0001c0001t0006g0098 a0001c0001t0006g0104 a0001c0001t0006g0229 a0001c0001t0006g0258 a0001c0001t0006g0262 a0001c0001t0006g0276 a0001c0001t0006g0299 a0001c0001t0007g0071 a0001c0001t0007g0267 a0001c0001t0008g0072 a0001c0001t0008g0082 a0001c0001t0009g0004 a0001c0001t0009g0009 a0001c0001t0009g0020 a0001c0001t0009g0078 a0001c0001t0010g0034 a0001c0001t0010g0192 a0001c0001t0010g0272 a0001c0001t0011g0021 a0001c0001t0011g0099 a0001c0001t0011g0101 a0001c0001t0011g0139 a0001c0001t0011g0163 a0001c0001t0011g0245 a0001c0001t0012g0080 a0001c0001t0012g0132 a0001c0001t0012g0206 a0001c0001t0013g0001 a0001c0001t0013g0051 a0001c0001t0013g0060 a0001c0001t0013g0128 a0001c0001t0013g0134 a0001c0001t0013g0136 a0001c0001t0017g0041 a0001c0001t0018g0239 a0001c0001t0018g0254 a0001c0001t0019g0248 a0001c0001t0019g0294 a0001c0001t0019g0308 a0001c0001t0022g0028 a0001c0001t0022g0103 a0001c0001t0023g0036 a0001c0001t0023g0042 a0001c0001t0023g0100 a0001c0001t0024g0007 a0001c0001t0024g0018 a0001c0001t0024g0045 a0001c0001t0025g0019 a0001c0001t0026g0043 a0001c0001t0026g0285 a0001c0001t0030g0214 a0001c0001t0030g0257 a0001c0001t0034g0159 a0001c0001t0035g0194 a0001c0001t0036g0096 a0001c0001t0038g0025 a0001c0001t0039g0122 a0001c0001t0040g0024 a0001c0001t0042g0148 a0001c0001t0044g0251 a0001c0001t0045g0249 a0001c0001t0049g0310 a0001c0001t0055g0260 a0001c0001t0058g0076 a0001c0001t0059g0256 a0001c0001t0061g0014 a0001c0001t0062g0292 a0001c0001t0063g0115 a0001c0001t0064g0050 a0001c0001t0065g0123 a0001c0001t0066g0117 a0001c0001t0069g0265 a0001c0001t0072g0217 a0001c0001t0073g0219 a0001c0001t0074g0141 a0001c0001t0075g0074 a0001c0001t0076g0213 a0001c0001t0077g0008 a0001c0001t0078g0038 a0001c0001t0080g0010 a0001c0001t0081g0058 a0001c0002t0001g0200 a0001c0002t0002g0005 a0001c0002t0002g0161 a0001c0002t0003g0039 a0001c0002t0003g0066 a0001c0002t0005g0048 a0001c0002t0005g0054 a0001c0002t0005g0065 a0001c0002t0005g0067 a0001c0002t0005g0083 a0001c0002t0005g0142 a0001c0002t0005g0144 a0001c0002t0005g0145 a0001c0002t0005g0189 a0001c0002t0005g0196 a0001c0002t0005g0198 a0001c0002t0005g0225 a0001c0002t0005g0286 a0001c0002t0007g0006 a0001c0002t0007g0016 a0001c0002t0007g0207 a0001c0002t0011g0052 a0001c0002t0011g0133 a0001c0002t0013g0055 a0001c0002t0015g0047 a0001c0002t0016g0049 a0001c0002t0016g0053 a0001c0002t0016g0056 a0001c0002t0016g0150 a0001c0002t0020g0102 a0001c0002t0020g0140 a0001c0002t0020g0143 a0001c0002t0021g0201 a0001c0002t0021g0226 a0001c0002t0021g0300 a0001c0002t0027g0197 a0001c0002t0028g0073 a0001c0002t0032g0044 a0001c0002t0052g0091 a0001c0002t0053g0090 a0001c0002t0056g0092 a0001c0002t0057g0110 a0001c0002t0068g0293 a0001c0006t0003g0231 a0001c0006t0003g0232 a0001c0007t0001g0023 a0001c0007t0001g0295 a0001c0008t0004g0137 a0001c0008t0004g0306 a0001c0009t0003g0283 a0001c0009t0007g0233 a0001c0010t0003g0075 a0001c0011t0048g0209 a0001c0013t0002g0105 a0001c0014t0025g0160 a0001c0017t0001g0304 a0001c0019t0010g0129 a0002c0012t0002g0240	227	312	0.7276	c.104 others(4): Show c.1044T>C	p.Arg others(6): Show p.Arg348Arg	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	12/28	1065/7862	1044/3144	348/1047	chr20	TogoVar
ATP9A_chr20_51591514_51773390	51674269	G G	C C	synonymous_variant synonymous_variant	LOW	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0010 a0001c0016t0010	a0001c0016t0010g0061 a0001c0016t0010g0061	1	312	0.0032	c.921 others(3): Show c.921C>G	p.Leu others(6): Show p.Leu307Leu	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	11/28	942/7862	921/3144	307/1047	chr20	TogoVar
ATP9A_chr20_51591514_51773390	51674311	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18985.hp1 NA18985.hp2 NA18985.hp1 NA18985.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0007 a0001c0009t0003 a0001c0009t0007	a0001c0009t0003g0283 a0001c0009t0007g0233 a0001c0009t0003g0283 a0001c0009t0007g0233	2	312	0.0064	c.879 others(3): Show c.879C>T	p.Ile others(6): Show p.Ile293Ile	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	11/28	900/7862	879/3144	293/1047	chr20	TogoVar
ATP9A_chr20_51591514_51773390	51689113	C C	T T	synonymous_variant synonymous_variant	LOW	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0231 a0001c0006t0003g0232 a0001c0006t0003g0231 a0001c0006t0003g0232	2	312	0.0064	c.750 others(3): Show c.750G>A	p.Glu others(6): Show p.Glu250Glu	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	9/28	771/7862	750/3144	250/1047	chr20	TogoVar
ATP9A_chr20_51591514_51773390	51690757	G G	A A	synonymous_variant synonymous_variant	LOW	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0304 a0001c0017t0001g0304	1	312	0.0032	c.705 others(3): Show c.705C>T	p.Phe others(6): Show p.Phe235Phe	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	8/28	726/7862	705/3144	235/1047	chr20	TogoVar
ATP9A_chr20_51591514_51773390	51690790	G G	A A	synonymous_variant synonymous_variant	LOW	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0009 a0001c0018t0009	a0001c0018t0009g0154 a0001c0018t0009g0154	1	312	0.0032	c.672 others(3): Show c.672C>T	p.Tyr others(6): Show p.Tyr224Tyr	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	8/28	693/7862	672/3144	224/1047	chr20	TogoVar
ATP9A_chr20_51591514_51773390	51694020	G G	A A	synonymous_variant synonymous_variant	LOW	HG02615.hp1 HG03139.hp1 HG02615.hp1 HG03139.hp1	a0001 a0001	a0001c0019 a0001c0020 a0001c0019 a0001c0020	a0001c0019t0010 a0001c0020t0009 a0001c0019t0010 a0001c0020t0009	a0001c0019t0010g0129 a0001c0020t0009g0127 a0001c0019t0010g0129 a0001c0020t0009g0127	2	312	0.0064	c.630 others(3): Show c.630C>T	p.Leu others(6): Show p.Leu210Leu	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	7/28	651/7862	630/3144	210/1047	chr20	TogoVar
ATP9A_chr20_51591514_51773390	51694029	C C	T T	synonymous_variant synonymous_variant	LOW	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0048 a0001c0011t0048	a0001c0011t0048g0209 a0001c0011t0048g0209	1	312	0.0032	c.621 others(3): Show c.621G>A	p.Thr others(6): Show p.Thr207Thr	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	7/28	642/7862	621/3144	207/1047	chr20	TogoVar
ATP9A_chr20_51591514_51773390	51697454	G G	T T	synonymous_variant synonymous_variant	LOW	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0075 a0001c0010t0003g0075	1	312	0.0032	c.465 others(3): Show c.465C>A	p.Ile others(6): Show p.Ile155Ile	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	5/28	486/7862	465/3144	155/1047	chr20	TogoVar
ATP9B_chr18_79064394_79383283	79069437	G G	T T	synonymous_variant synonymous_variant	LOW	HG02109.hp2 HG04204.hp1 HG02109.hp2 HG04204.hp1	a0001 a0001	a0001c0038 a0001c0039 a0001c0038 a0001c0039	a0001c0038t0001 a0001c0039t0002 a0001c0038t0001 a0001c0039t0002	a0001c0038t0001g0265 a0001c0039t0002g0266 a0001c0038t0001g0265 a0001c0039t0002g0266	2	298	0.0067	c.27G others(2): Show c.27G>T	p.Pro others(4): Show p.Pro9Pro	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/30	44/4361	27/3444	9/1147	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79069458	C C	T T	synonymous_variant synonymous_variant	LOW	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0003 a0001c0037t0003	a0001c0037t0003g0104 a0001c0037t0003g0104	1	298	0.0034	c.48C others(2): Show c.48C>T	p.Ala others(5): Show p.Ala16Ala	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/30	65/4361	48/3444	16/1147	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79069488	C C	T T	synonymous_variant synonymous_variant	LOW	NA20805.hp1 NA20805.hp1	a0004 a0004	a0004c0036 a0004c0036	a0004c0036t0001 a0004c0036t0001	a0004c0036t0001g0271 a0004c0036t0001g0271	1	298	0.0034	c.78C others(2): Show c.78C>T	p.Tyr others(5): Show p.Tyr26Tyr	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/30	95/4361	78/3444	26/1147	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79069509	G G	C C	synonymous_variant synonymous_variant	LOW	HG02572.hp1 HG02809.hp1 HG02970.hp2 others(1): Show HG02572.hp1 HG02809.hp1 HG02970.hp2 HG03225.hp1	a0001 a0001	a0001c0011 a0001c0017 a0001c0011 a0001c0017	a0001c0011t0006 a0001c0017t0004 a0001c0011t0006 a0001c0017t0004	a0001c0011t0006g0105 a0001c0011t0006g0106 a0001c0011t0006g0107 others(1): Show a0001c0011t0006g0105 a0001c0011t0006g0106 a0001c0011t0006g0107 a0001c0017t0004g0099	4	298	0.0134	c.99G others(2): Show c.99G>C	p.Pro others(5): Show p.Pro33Pro	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/30	116/4361	99/3444	33/1147	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79096504	T T	C C	synonymous_variant synonymous_variant	LOW	HG02109.hp2 HG04204.hp1 HG02109.hp2 HG04204.hp1	a0001 a0001	a0001c0038 a0001c0039 a0001c0038 a0001c0039	a0001c0038t0001 a0001c0039t0002 a0001c0038t0001 a0001c0039t0002	a0001c0038t0001g0265 a0001c0039t0002g0266 a0001c0038t0001g0265 a0001c0039t0002g0266	2	298	0.0067	c.148 others(3): Show c.148T>C	p.Leu others(5): Show p.Leu50Leu	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	2/30	165/4361	148/3444	50/1147	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79110397	G G	A A	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG01069.hp1 HG01071.hp1 others(30): Show HG00099.hp1 HG01069.hp1 HG01071.hp1 HG01167.hp1 HG01243.hp1 HG01891.hp1 HG02027.hp2 HG02109.hp1 HG02257.hp2 HG02258.hp2 HG02293.hp2 HG02451.hp2 HG02559.hp1 HG02723.hp2 HG02735.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03139.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG06807.hp2 NA18522.hp1 NA18955.hp2 NA19030.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0014	a0001c0006 a0001c0010 a0003c0007 others(5): Show a0001c0006 a0001c0010 a0003c0007 a0003c0020 a0003c0021 a0004c0008 a0004c0036 a0014c0022	a0001c0006t0003 a0001c0006t0004 a0001c0006t0007 others(8): Show a0001c0006t0003 a0001c0006t0004 a0001c0006t0007 a0001c0010t0001 a0001c0010t0004 a0003c0007t0004 a0003c0020t0004 a0003c0021t0004 a0004c0008t0001 a0004c0036t0001 a0014c0022t0004	a0001c0006t0003g0267 a0001c0006t0003g0268 a0001c0006t0003g0281 others(29): Show a0001c0006t0003g0267 a0001c0006t0003g0268 a0001c0006t0003g0281 a0001c0006t0004g0273 a0001c0006t0004g0291 a0001c0006t0004g0292 a0001c0006t0004g0293 a0001c0006t0004g0294 a0001c0006t0007g0285 a0001c0006t0007g0286 a0001c0006t0007g0290 a0001c0010t0001g0296 a0001c0010t0004g0277 a0001c0010t0004g0295 a0001c0010t0004g0297 a0003c0007t0004g0278 a0003c0007t0004g0279 a0003c0007t0004g0280 a0003c0007t0004g0282 a0003c0007t0004g0283 a0003c0007t0004g0287 a0003c0007t0004g0288 a0003c0020t0004g0289 a0003c0021t0004g0284 a0004c0008t0001g0001 a0004c0008t0001g0269 a0004c0008t0001g0270 a0004c0008t0001g0272 a0004c0008t0001g0274 a0004c0008t0001g0275 a0004c0036t0001g0271 a0014c0022t0004g0276	33	298	0.1107	c.336 others(3): Show c.336G>A	p.Glu others(6): Show p.Glu112Glu	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	3/30	353/4361	336/3444	112/1147	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79113288	A A	G G	synonymous_variant synonymous_variant	LOW	HG00280.hp1 HG00673.hp2 HG01106.hp1 others(30): Show HG00280.hp1 HG00673.hp2 HG01106.hp1 HG01261.hp1 HG01496.hp1 HG01981.hp2 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02129.hp1 HG02132.hp1 HG02738.hp1 HG03927.hp1 NA18940.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18961.hp2 NA18962.hp2 NA18979.hp2 NA18994.hp1 NA19002.hp2 NA19007.hp1 NA19054.hp1 NA19056.hp2 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp2	a0001 a0015 a0016 a0001 a0015 a0016	a0001c0003 a0001c0015 a0015c0027 others(1): Show a0001c0003 a0001c0015 a0015c0027 a0016c0028	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(5): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0011 a0001c0003t0013 a0001c0015t0001 a0015c0027t0003 a0016c0028t0012	a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0002g0135 others(30): Show a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0002g0135 a0001c0003t0002g0149 a0001c0003t0003g0112 a0001c0003t0003g0115 a0001c0003t0003g0121 a0001c0003t0003g0122 a0001c0003t0003g0123 a0001c0003t0003g0124 a0001c0003t0003g0125 a0001c0003t0003g0126 a0001c0003t0003g0127 a0001c0003t0003g0128 a0001c0003t0003g0129 a0001c0003t0003g0131 a0001c0003t0003g0133 a0001c0003t0003g0138 a0001c0003t0003g0142 a0001c0003t0003g0143 a0001c0003t0003g0145 a0001c0003t0003g0146 a0001c0003t0003g0147 a0001c0003t0003g0150 a0001c0003t0003g0151 a0001c0003t0003g0152 a0001c0003t0003g0153 a0001c0003t0011g0134 a0001c0003t0013g0148 a0001c0015t0001g0130 a0001c0015t0001g0132 a0015c0027t0003g0139 a0016c0028t0012g0144	33	298	0.1107	c.492 others(3): Show c.492A>G	p.Val others(6): Show p.Val164Val	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	4/30	509/4361	492/3444	164/1147	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79176850	A A	G G	synonymous_variant synonymous_variant	LOW	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0038 a0001c0026t0001g0038	1	298	0.0034	c.816 others(3): Show c.816A>G	p.Glu others(6): Show p.Glu272Glu	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	8/30	833/4361	816/3444	272/1147	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79253425	A A	G G	synonymous_variant synonymous_variant	LOW	HG02717.hp2 HG03195.hp1 HG02717.hp2 HG03195.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0006 a0001c0014t0006	a0001c0014t0006g0017 a0001c0014t0006g0093 a0001c0014t0006g0017 a0001c0014t0006g0093	2	298	0.0067	c.115 others(4): Show c.1152A>G	p.Leu others(6): Show p.Leu384Leu	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	12/30	1169/4361	1152/3444	384/1147	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79277159	A A	G G	synonymous_variant synonymous_variant	LOW	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0074 a0001c0025t0001g0074	1	298	0.0034	c.137 others(4): Show c.1374A>G	p.Glu others(6): Show p.Glu458Glu	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	13/30	1391/4361	1374/3444	458/1147	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79303668	C C	T T	synonymous_variant synonymous_variant	LOW	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0002 a0001c0039t0002	a0001c0039t0002g0266 a0001c0039t0002g0266	1	298	0.0034	c.147 others(4): Show c.1476C>T	p.Ala others(6): Show p.Ala492Ala	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	14/30	1493/4361	1476/3444	492/1147	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79307000	T T	G G	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00140.hp1 HG00544.hp1 others(110): Show HG00099.hp2 HG00140.hp1 HG00544.hp1 HG00609.hp2 HG00673.hp2 HG00735.hp1 HG00741.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01891.hp1 HG01934.hp2 HG01975.hp2 HG01981.hp1 HG02015.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02559.hp1 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03710.hp2 HG04115.hp2 HG04184.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18970.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18984.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA18998.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19043.hp1 NA19054.hp2 NA19070.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19086.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0008 a0013 a0014	a0001c0001 a0001c0010 a0001c0015 others(9): Show a0001c0001 a0001c0010 a0001c0015 a0001c0017 a0001c0025 a0001c0026 a0001c0038 a0002c0005 a0005c0016 a0008c0030 a0013c0023 a0014c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0010t0001 a0001c0010t0004 a0001c0015t0001 a0001c0017t0004 a0001c0025t0001 a0001c0026t0001 a0001c0038t0001 a0002c0005t0001 a0002c0005t0002 a0002c0005t0004 a0005c0016t0001 a0008c0030t0001 a0013c0023t0001 a0014c0022t0004	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(110): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0002g0079 a0001c0001t0003g0072 a0001c0001t0008g0055 a0001c0001t0008g0057 a0001c0001t0010g0005 a0001c0001t0010g0050 a0001c0010t0001g0296 a0001c0010t0004g0277 a0001c0010t0004g0295 a0001c0010t0004g0297 a0001c0015t0001g0130 a0001c0015t0001g0132 a0001c0017t0004g0099 a0001c0025t0001g0074 a0001c0026t0001g0038 a0001c0038t0001g0265 a0002c0005t0001g0178 a0002c0005t0001g0179 a0002c0005t0001g0190 a0002c0005t0001g0193 a0002c0005t0001g0194 a0002c0005t0001g0197 a0002c0005t0001g0202 a0002c0005t0001g0242 a0002c0005t0001g0243 a0002c0005t0002g0207 a0002c0005t0002g0208 a0002c0005t0002g0209 a0002c0005t0002g0211 a0002c0005t0004g0184 a0005c0016t0001g0169 a0005c0016t0001g0171 a0008c0030t0001g0254 a0013c0023t0001g0042 a0014c0022t0004g0276	113	298	0.3792	c.153 others(4): Show c.1539T>G	p.Ala others(6): Show p.Ala513Ala	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/30	1556/4361	1539/3444	513/1147	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79307171	C C	T T	synonymous_variant synonymous_variant	LOW	HG01243.hp1 HG02257.hp2 HG02723.hp2 others(7): Show HG01243.hp1 HG02257.hp2 HG02723.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03486.hp1 NA18522.hp1 NA19030.hp1 NA19030.hp2	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0024 a0003c0007 a0003c0021 others(1): Show a0001c0024 a0003c0007 a0003c0021 a0010c0029	a0001c0024t0004 a0003c0007t0004 a0003c0021t0004 others(1): Show a0001c0024t0004 a0003c0007t0004 a0003c0021t0004 a0010c0029t0004	a0001c0024t0004g0058 a0003c0007t0004g0278 a0003c0007t0004g0279 others(7): Show a0001c0024t0004g0058 a0003c0007t0004g0278 a0003c0007t0004g0279 a0003c0007t0004g0280 a0003c0007t0004g0282 a0003c0007t0004g0283 a0003c0007t0004g0287 a0003c0007t0004g0288 a0003c0021t0004g0284 a0010c0029t0004g0220	10	298	0.0336	c.171 others(4): Show c.1710C>T	p.Phe others(6): Show p.Phe570Phe	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/30	1727/4361	1710/3444	570/1147	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79307183	C C	T T	synonymous_variant synonymous_variant	LOW	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0004 a0001c0013t0004	a0001c0013t0004g0108 a0001c0013t0004g0111 a0001c0013t0004g0108 a0001c0013t0004g0111	2	298	0.0067	c.172 others(4): Show c.1722C>T	p.Asp others(6): Show p.Asp574Asp	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/30	1739/4361	1722/3444	574/1147	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79307225	C C	T T	synonymous_variant synonymous_variant	LOW	HG02723.hp2 HG02723.hp2	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0004 a0003c0021t0004	a0003c0021t0004g0284 a0003c0021t0004g0284	1	298	0.0034	c.176 others(4): Show c.1764C>T	p.Ser others(6): Show p.Ser588Ser	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/30	1781/4361	1764/3444	588/1147	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79329179	G G	A A	synonymous_variant synonymous_variant	LOW	HG01243.hp2 HG01884.hp2 HG01891.hp2 others(3): Show HG01243.hp2 HG01884.hp2 HG01891.hp2 HG02257.hp1 HG02723.hp1 HG03130.hp2	a0002 a0005 a0002 a0005	a0002c0032 a0005c0009 a0002c0032 a0005c0009	a0002c0032t0005 a0005c0009t0005 a0002c0032t0005 a0005c0009t0005	a0002c0032t0005g0195 a0005c0009t0005g0165 a0005c0009t0005g0166 others(3): Show a0002c0032t0005g0195 a0005c0009t0005g0165 a0005c0009t0005g0166 a0005c0009t0005g0167 a0005c0009t0005g0168 a0005c0009t0005g0170	6	298	0.0201	c.181 others(4): Show c.1812G>A	p.Thr others(6): Show p.Thr604Thr	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	16/30	1829/4361	1812/3444	604/1147	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79330023	G G	A A	synonymous_variant synonymous_variant	LOW	HG01243.hp2 HG01884.hp2 HG01891.hp2 others(3): Show HG01243.hp2 HG01884.hp2 HG01891.hp2 HG02257.hp1 HG02723.hp1 HG03130.hp2	a0002 a0005 a0002 a0005	a0002c0032 a0005c0009 a0002c0032 a0005c0009	a0002c0032t0005 a0005c0009t0005 a0002c0032t0005 a0005c0009t0005	a0002c0032t0005g0195 a0005c0009t0005g0165 a0005c0009t0005g0166 others(3): Show a0002c0032t0005g0195 a0005c0009t0005g0165 a0005c0009t0005g0166 a0005c0009t0005g0167 a0005c0009t0005g0168 a0005c0009t0005g0170	6	298	0.0201	c.194 others(4): Show c.1947G>A	p.Thr others(6): Show p.Thr649Thr	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/30	1964/4361	1947/3444	649/1147	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79377293	G G	A A	synonymous_variant synonymous_variant	LOW	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0033 a0002c0033	a0002c0033t0002 a0002c0033t0002	a0002c0033t0002g0214 a0002c0033t0002g0214	1	298	0.0034	c.335 others(4): Show c.3354G>A	p.Ala others(7): Show p.Ala1118Ala	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	30/30	3371/4361	3354/3444	1118/1147	chr18	TogoVar
ATPAF1_chr1_46627737_46673364	46635884	G G	C C	synonymous_variant synonymous_variant	LOW	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0207 a0001c0004t0002g0207	1	412	0.0024	c.879 others(3): Show c.879C>G	p.Thr others(6): Show p.Thr293Thr	ATPAF1	ENSG00000123472.13	transcript	ENST00000574428.6	protein_coding	9/9	921/4068	879/987	293/328	chr1	TogoVar
ATPAF2_chr17_18013021_18044168	18018681	C C	T T	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00639.hp2 HG01167.hp2 others(3): Show HG00099.hp2 HG00639.hp2 HG01167.hp2 HG01169.hp2 HG03239.hp1 HG04199.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0025 a0001c0003t0001g0026 a0001c0003t0001g0209 others(1): Show a0001c0003t0001g0025 a0001c0003t0001g0026 a0001c0003t0001g0209 a0001c0003t0001g0230	6	328	0.0183	c.738 others(3): Show c.738G>A	p.Gln others(6): Show p.Gln246Gln	ATPAF2	ENSG00000171953.16	transcript	ENST00000474627.8	protein_coding	8/8	893/1553	738/870	246/289	chr17	TogoVar
ATPSCKMT_chr5_10220507_10254888	10235238	G G	A A	synonymous_variant synonymous_variant	LOW	HG01361.hp2 HG02630.hp1 HG02895.hp1 others(3): Show HG01361.hp2 HG02630.hp1 HG02895.hp1 HG02897.hp2 HG03041.hp1 HG03041.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0005 a0001c0006t0002g0186 a0001c0006t0002g0005 a0001c0006t0002g0186	6	358	0.0168	c.468 others(3): Show c.468C>T	p.Asn others(6): Show p.Asn156Asn	ATPSCKMT	ENSG00000150756.14	transcript	ENST00000511437.6	protein_coding	4/5	483/2651	468/702	156/233	chr5	TogoVar
ATPSCKMT_chr5_10220507_10254888	10239076	G G	A A	synonymous_variant synonymous_variant	LOW	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0185 a0001c0013t0002g0185	1	358	0.0028	c.297 others(3): Show c.297C>T	p.Asp others(5): Show p.Asp99Asp	ATPSCKMT	ENSG00000150756.14	transcript	ENST00000511437.6	protein_coding	2/5	312/2651	297/702	99/233	chr5	TogoVar
ATPSCKMT_chr5_10220507_10254888	10239166	C C	T T	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(224): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18984.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19080.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0008	a0001c0002 a0002c0001 a0002c0014 others(4): Show a0001c0002 a0002c0001 a0002c0014 a0004c0007 a0005c0009 a0006c0010 a0008c0011	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(17): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0017 a0001c0002t0020 a0001c0002t0022 a0002c0001t0001 a0002c0001t0003 a0002c0001t0005 a0002c0001t0009 a0002c0001t0016 a0002c0001t0021 a0002c0014t0001 a0004c0007t0007 a0004c0007t0023 a0005c0009t0001 a0006c0010t0004 a0008c0011t0003	a0001c0002t0001g0049 a0001c0002t0001g0074 a0001c0002t0002g0011 others(138): Show a0001c0002t0001g0049 a0001c0002t0001g0074 a0001c0002t0002g0011 a0001c0002t0002g0014 a0001c0002t0002g0130 a0001c0002t0003g0004 a0001c0002t0003g0019 a0001c0002t0003g0025 a0001c0002t0003g0026 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0031 a0001c0002t0003g0032 a0001c0002t0003g0043 a0001c0002t0003g0057 a0001c0002t0003g0073 a0001c0002t0003g0081 a0001c0002t0003g0090 a0001c0002t0003g0093 a0001c0002t0003g0095 a0001c0002t0003g0096 a0001c0002t0003g0098 a0001c0002t0003g0099 a0001c0002t0003g0103 a0001c0002t0003g0104 a0001c0002t0003g0107 a0001c0002t0003g0108 a0001c0002t0003g0109 a0001c0002t0003g0126 a0001c0002t0003g0136 a0001c0002t0003g0165 a0001c0002t0003g0167 a0001c0002t0003g0173 a0001c0002t0003g0201 a0001c0002t0003g0203 a0001c0002t0003g0204 a0001c0002t0004g0003 a0001c0002t0004g0027 a0001c0002t0004g0042 a0001c0002t0004g0048 a0001c0002t0004g0075 a0001c0002t0004g0076 a0001c0002t0004g0094 a0001c0002t0004g0106 a0001c0002t0004g0131 a0001c0002t0004g0152 a0001c0002t0004g0163 a0001c0002t0004g0180 a0001c0002t0004g0183 a0001c0002t0004g0193 a0001c0002t0004g0220 a0001c0002t0004g0225 a0001c0002t0004g0226 a0001c0002t0004g0227 a0001c0002t0004g0229 a0001c0002t0004g0232 a0001c0002t0007g0051 a0001c0002t0007g0065 a0001c0002t0007g0071 a0001c0002t0007g0078 a0001c0002t0007g0121 a0001c0002t0017g0056 a0001c0002t0020g0092 a0001c0002t0022g0059 a0002c0001t0001g0001 a0002c0001t0001g0002 a0002c0001t0001g0006 a0002c0001t0001g0007 a0002c0001t0001g0034 a0002c0001t0001g0037 a0002c0001t0001g0040 a0002c0001t0001g0041 a0002c0001t0001g0044 a0002c0001t0001g0058 a0002c0001t0001g0067 a0002c0001t0001g0068 a0002c0001t0001g0069 a0002c0001t0001g0070 a0002c0001t0001g0077 a0002c0001t0001g0083 a0002c0001t0001g0091 a0002c0001t0001g0110 a0002c0001t0001g0112 a0002c0001t0001g0115 a0002c0001t0001g0117 a0002c0001t0001g0118 a0002c0001t0001g0119 a0002c0001t0001g0124 a0002c0001t0001g0125 a0002c0001t0001g0128 a0002c0001t0001g0132 a0002c0001t0001g0133 a0002c0001t0001g0135 a0002c0001t0001g0138 a0002c0001t0001g0139 a0002c0001t0001g0140 a0002c0001t0001g0141 a0002c0001t0001g0142 a0002c0001t0001g0144 a0002c0001t0001g0145 a0002c0001t0001g0146 a0002c0001t0001g0147 a0002c0001t0001g0149 a0002c0001t0001g0150 a0002c0001t0001g0151 a0002c0001t0001g0153 a0002c0001t0001g0154 a0002c0001t0001g0156 a0002c0001t0001g0157 a0002c0001t0001g0168 a0002c0001t0001g0171 a0002c0001t0001g0174 a0002c0001t0001g0175 a0002c0001t0001g0176 a0002c0001t0001g0177 a0002c0001t0001g0178 a0002c0001t0001g0179 a0002c0001t0001g0196 a0002c0001t0001g0197 a0002c0001t0001g0205 a0002c0001t0001g0216 a0002c0001t0001g0230 a0002c0001t0003g0127 a0002c0001t0003g0134 a0002c0001t0003g0137 a0002c0001t0003g0143 a0002c0001t0003g0158 a0002c0001t0005g0035 a0002c0001t0005g0036 a0002c0001t0005g0129 a0002c0001t0009g0013 a0002c0001t0016g0114 a0002c0001t0021g0162 a0002c0014t0001g0148 a0004c0007t0007g0022 a0004c0007t0007g0079 a0004c0007t0023g0206 a0005c0009t0001g0113 a0005c0009t0001g0116 a0006c0010t0004g0182 a0008c0011t0003g0097	227	358	0.6341	c.207 others(3): Show c.207G>A	p.Pro others(5): Show p.Pro69Pro	ATPSCKMT	ENSG00000150756.14	transcript	ENST00000511437.6	protein_coding	2/5	222/2651	207/702	69/233	chr5	TogoVar
ATPSCKMT_chr5_10220507_10254888	10239217	G G	A A	synonymous_variant synonymous_variant	LOW	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0148 a0002c0014t0001g0148	1	358	0.0028	c.156 others(3): Show c.156C>T	p.Tyr others(5): Show p.Tyr52Tyr	ATPSCKMT	ENSG00000150756.14	transcript	ENST00000511437.6	protein_coding	2/5	171/2651	156/702	52/233	chr5	TogoVar
ATPSCKMT_chr5_10220507_10254888	10239241	C C	T T	synonymous_variant synonymous_variant	LOW	HG01074.hp1 HG01361.hp2 HG01891.hp2 others(24): Show HG01074.hp1 HG01361.hp2 HG01891.hp2 HG02109.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02559.hp1 HG02615.hp2 HG02630.hp1 HG02723.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03453.hp2 HG06807.hp2 NA18522.hp2 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0002 a0001c0004t0008 a0001c0004t0013 others(2): Show a0001c0004t0002 a0001c0004t0008 a0001c0004t0013 a0001c0004t0015 a0001c0006t0002	a0001c0004t0002g0008 a0001c0004t0002g0016 a0001c0004t0002g0053 others(14): Show a0001c0004t0002g0008 a0001c0004t0002g0016 a0001c0004t0002g0053 a0001c0004t0002g0123 a0001c0004t0002g0161 a0001c0004t0002g0189 a0001c0004t0002g0190 a0001c0004t0002g0208 a0001c0004t0002g0217 a0001c0004t0008g0050 a0001c0004t0008g0169 a0001c0004t0008g0210 a0001c0004t0008g0231 a0001c0004t0013g0188 a0001c0004t0015g0223 a0001c0006t0002g0005 a0001c0006t0002g0186	27	358	0.0754	c.132 others(3): Show c.132G>A	p.Val others(5): Show p.Val44Val	ATPSCKMT	ENSG00000150756.14	transcript	ENST00000511437.6	protein_coding	2/5	147/2651	132/702	44/233	chr5	TogoVar
ATRAID_chr2_27207041_27222157	27215662	A A	G G	synonymous_variant synonymous_variant	LOW	HG01109.hp1 HG01109.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0029 a0003c0008t0002g0029	1	302	0.0033	c.396 others(3): Show c.396A>G	p.Gly others(6): Show p.Gly132Gly	ATRAID	ENSG00000138085.18	transcript	ENST00000380171.9	protein_coding	5/7	724/1227	396/690	132/229	chr2	TogoVar
ATRAID_chr2_27207041_27222157	27216533	T T	C C	synonymous_variant synonymous_variant	LOW	HG02451.hp2 HG03209.hp1 NA18906.hp2 HG02451.hp2 HG03209.hp1 NA18906.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0007 a0002c0004t0002g0007	3	302	0.0099	c.498 others(3): Show c.498T>C	p.Pro others(6): Show p.Pro166Pro	ATRAID	ENSG00000138085.18	transcript	ENST00000380171.9	protein_coding	6/7	826/1227	498/690	166/229	chr2	TogoVar
ATRIP_chr3_48441737_48472645	48446956	C C	T T	synonymous_variant synonymous_variant	LOW	HG02622.hp2 HG02630.hp1 HG02895.hp1 others(1): Show HG02622.hp2 HG02630.hp1 HG02895.hp1 HG02896.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0002 a0001c0005t0002g0025 a0001c0005t0002g0055 a0001c0005t0002g0002 a0001c0005t0002g0025 a0001c0005t0002g0055	4	360	0.0111	c.111 others(3): Show c.111C>T	p.Phe others(5): Show p.Phe37Phe	ATRIP	ENSG00000164053.22	transcript	ENST00000320211.10	protein_coding	1/13	220/4576	111/2376	37/791	chr3	TogoVar
ATRIP_chr3_48441737_48472645	48450125	C C	T T	synonymous_variant synonymous_variant	LOW	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0091 a0001c0012t0001g0091	1	360	0.0028	c.336 others(3): Show c.336C>T	p.Phe others(6): Show p.Phe112Phe	ATRIP	ENSG00000164053.22	transcript	ENST00000320211.10	protein_coding	2/13	445/4576	336/2376	112/791	chr3	TogoVar
ATRIP_chr3_48441737_48472645	48460140	C C	T T	synonymous_variant synonymous_variant	LOW	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0149 a0001c0010t0001g0149	1	360	0.0028	c.108 others(4): Show c.1086C>T	p.Thr others(6): Show p.Thr362Thr	ATRIP	ENSG00000164053.22	transcript	ENST00000320211.10	protein_coding	8/13	1195/4576	1086/2376	362/791	chr3	TogoVar
ATRIP_chr3_48441737_48472645	48460269	A A	G G	synonymous_variant synonymous_variant	LOW	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0011 a0001c0009t0001g0011	1	360	0.0028	c.121 others(4): Show c.1215A>G	p.Arg others(6): Show p.Arg405Arg	ATRIP	ENSG00000164053.22	transcript	ENST00000320211.10	protein_coding	8/13	1324/4576	1215/2376	405/791	chr3	TogoVar
ATRIP_chr3_48441737_48472645	48463833	C C	T T	synonymous_variant synonymous_variant	LOW	HG01891.hp1 HG02647.hp2 HG02970.hp1 others(3): Show HG01891.hp1 HG02647.hp2 HG02970.hp1 HG03098.hp2 HG03540.hp2 NA18906.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0009 a0001c0004t0008g0033 a0001c0004t0008g0009 a0001c0004t0008g0033	6	360	0.0167	c.183 others(4): Show c.1834C>T	p.Leu others(6): Show p.Leu612Leu	ATRIP	ENSG00000164053.22	transcript	ENST00000320211.10	protein_coding	9/13	1943/4576	1834/2376	612/791	chr3	TogoVar

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