Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
ALX4_chr11_44255440_44315139	44309703	C C	A A	synonymous_variant synonymous_variant	LOW	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0002 a0001c0031t0002	a0001c0031t0002g0381 a0001c0031t0002g0381	1	388	0.0026	c.360 others(3): Show c.360G>T	p.Pro others(6): Show p.Pro120Pro	ALX4	ENSG00000052850.8	transcript	ENST00000652299.1	protein_coding	1/4	437/5727	360/1236	120/411	chr11	TogoVar
ALX4_chr11_44255440_44315139	44309994	C C	G G	synonymous_variant synonymous_variant	LOW	HG02293.hp1 HG02602.hp1 HG03491.hp1 others(2): Show HG02293.hp1 HG02602.hp1 HG03491.hp1 HG03492.hp1 HG04199.hp1	a0003 a0007 a0003 a0007	a0003c0013 a0003c0017 a0003c0019 others(1): Show a0003c0013 a0003c0017 a0003c0019 a0007c0018	a0003c0013t0001 a0003c0017t0002 a0003c0019t0059 others(1): Show a0003c0013t0001 a0003c0017t0002 a0003c0019t0059 a0007c0018t0001	a0003c0013t0001g0009 a0003c0013t0001g0012 a0003c0017t0002g0008 others(2): Show a0003c0013t0001g0009 a0003c0013t0001g0012 a0003c0017t0002g0008 a0003c0019t0059g0010 a0007c0018t0001g0011	5	388	0.0129	c.69G others(2): Show c.69G>C	p.Pro others(5): Show p.Pro23Pro	ALX4	ENSG00000052850.8	transcript	ENST00000652299.1	protein_coding	1/4	146/5727	69/1236	23/411	chr11	TogoVar
ALYREF_chr17_81882835_81896586	81888340	G G	A A	synonymous_variant synonymous_variant	LOW	HG01243.hp2 HG01884.hp2 HG01891.hp2 others(12): Show HG01243.hp2 HG01884.hp2 HG01891.hp2 HG02280.hp1 HG02559.hp2 HG02630.hp1 HG02647.hp2 HG02809.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03486.hp1 HG03516.hp2 NA18522.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0003 a0001c0004t0001 a0001c0002t0001 a0001c0002t0003 a0001c0004t0001	a0001c0002t0001g0004 a0001c0002t0001g0008 a0001c0002t0001g0010 others(2): Show a0001c0002t0001g0004 a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0003g0034 a0001c0004t0001g0033	15	322	0.0466	c.681 others(3): Show c.681C>T	p.Arg others(6): Show p.Arg227Arg	ALYREF	ENSG00000183684.8	transcript	ENST00000505490.3	protein_coding	5/6	687/1097	681/795	227/264	chr17	TogoVar
ALYREF_chr17_81882835_81896586	81888418	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0023 a0001c0005t0001g0023	1	322	0.0031	c.603 others(3): Show c.603C>T	p.Ser others(6): Show p.Ser201Ser	ALYREF	ENSG00000183684.8	transcript	ENST00000505490.3	protein_coding	5/6	609/1097	603/795	201/264	chr17	TogoVar
ALYREF_chr17_81882835_81896586	81888555	C C	T T	synonymous_variant synonymous_variant	LOW	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0033 a0001c0004t0001g0033	1	322	0.0031	c.567 others(3): Show c.567G>A	p.Thr others(6): Show p.Thr189Thr	ALYREF	ENSG00000183684.8	transcript	ENST00000505490.3	protein_coding	4/6	573/1097	567/795	189/264	chr17	TogoVar
ALYREF_chr17_81882835_81896586	81889276	G G	A A	synonymous_variant synonymous_variant	LOW	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0025 a0001c0006t0003g0025	1	322	0.0031	c.444 others(3): Show c.444C>T	p.Arg others(6): Show p.Arg148Arg	ALYREF	ENSG00000183684.8	transcript	ENST00000505490.3	protein_coding	3/6	450/1097	444/795	148/264	chr17	TogoVar
AMACR_chr5_33981165_34013050	33989159	G G	A A	synonymous_variant synonymous_variant	LOW	HG02647.hp2 HG02647.hp2	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0002 a0010c0018t0002	a0010c0018t0002g0092 a0010c0018t0002g0092	1	438	0.0023	c.108 others(4): Show c.1083C>T	p.Arg others(6): Show p.Arg361Arg	AMACR	ENSG00000242110.9	transcript	ENST00000335606.11	protein_coding	5/5	1114/4108	1083/1149	361/382	chr5	TogoVar
AMACR_chr5_33981165_34013050	33989405	C C	T T	synonymous_variant synonymous_variant	LOW	HG02615.hp1 HG02615.hp1	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0003 a0003c0021t0003	a0003c0021t0003g0185 a0003c0021t0003g0185	1	438	0.0023	c.837 others(3): Show c.837G>A	p.Thr others(6): Show p.Thr279Thr	AMACR	ENSG00000242110.9	transcript	ENST00000335606.11	protein_coding	5/5	868/4108	837/1149	279/382	chr5	TogoVar
AMACR_chr5_33981165_34013050	34004688	C C	T T	synonymous_variant synonymous_variant	LOW	HG02056.hp2 NA18982.hp1 NA18983.hp2 others(2): Show HG02056.hp2 NA18982.hp1 NA18983.hp2 NA19072.hp1 NA19074.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0012 a0002c0010t0002g0012	5	438	0.0114	c.438 others(3): Show c.438G>A	p.Pro others(6): Show p.Pro146Pro	AMACR	ENSG00000242110.9	transcript	ENST00000335606.11	protein_coding	3/5	469/4108	438/1149	146/382	chr5	TogoVar
AMBN_chr4_70587256_70612288	70601430	T T	C C	synonymous_variant synonymous_variant	LOW	NA18972.hp1 NA19004.hp2 NA19084.hp2 NA18972.hp1 NA19004.hp2 NA19084.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0002 a0005c0011t0002	a0005c0011t0002g0036 a0005c0011t0002g0036	3	480	0.0063	c.307 others(3): Show c.307T>C	p.Leu others(6): Show p.Leu103Leu	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding	6/13	410/2005	307/1344	103/447	chr4	TogoVar
AMBN_chr4_70587256_70612288	70603268	A A	G G	synonymous_variant synonymous_variant	LOW	HG00140.hp2 HG00280.hp1 HG00735.hp2 others(18): Show HG00140.hp2 HG00280.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01106.hp1 HG01256.hp1 HG01258.hp1 HG01433.hp1 HG01496.hp1 HG01943.hp2 HG02055.hp1 HG02109.hp2 HG02602.hp2 HG02965.hp2 HG03486.hp2 HG03834.hp2 NA18989.hp1 NA19056.hp2 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0027 a0001c0004 a0003c0027	a0001c0004t0001 a0003c0027t0002 a0001c0004t0001 a0003c0027t0002	a0001c0004t0001g0008 a0001c0004t0001g0067 a0001c0004t0001g0152 others(8): Show a0001c0004t0001g0008 a0001c0004t0001g0067 a0001c0004t0001g0152 a0001c0004t0001g0166 a0001c0004t0001g0200 a0001c0004t0001g0211 a0001c0004t0001g0218 a0001c0004t0001g0219 a0001c0004t0001g0223 a0001c0004t0001g0228 a0003c0027t0002g0209	21	480	0.0438	c.657 others(3): Show c.657A>G	p.Gln others(6): Show p.Gln219Gln	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding	10/13	760/2005	657/1344	219/447	chr4	TogoVar
AMBN_chr4_70587256_70612288	70606283	C C	T T	synonymous_variant synonymous_variant	LOW	HG02922.hp2 NA20300.hp2 HG02922.hp2 NA20300.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0002 a0002c0018t0002	a0002c0018t0002g0006 a0002c0018t0002g0006	2	480	0.0042	c.897 others(3): Show c.897C>T	p.Gly others(6): Show p.Gly299Gly	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding	13/13	1000/2005	897/1344	299/447	chr4	TogoVar
AMBN_chr4_70587256_70612288	70606460	G G	A A	synonymous_variant synonymous_variant	LOW	HG03098.hp2 HG03098.hp2	a0006 a0006	a0006c0023 a0006c0023	a0006c0023t0002 a0006c0023t0002	a0006c0023t0002g0198 a0006c0023t0002g0198	1	480	0.0021	c.107 others(4): Show c.1074G>A	p.Lys others(6): Show p.Lys358Lys	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding	13/13	1177/2005	1074/1344	358/447	chr4	TogoVar
AMBN_chr4_70587256_70612288	70606709	A A	G G	synonymous_variant synonymous_variant	LOW	HG00280.hp2 HG00408.hp2 HG00423.hp1 others(120): Show HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00609.hp1 HG00639.hp1 HG00673.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01109.hp2 HG01167.hp2 HG01192.hp1 HG01243.hp2 HG01361.hp1 HG01515.hp2 HG01891.hp1 HG02004.hp2 HG02027.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03942.hp1 HG04115.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18955.hp2 NA18956.hp2 NA18971.hp1 NA18972.hp1 NA18984.hp2 NA18988.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19059.hp1 NA19062.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19076.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19086.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0011 a0020 a0021	a0001c0002 a0002c0005 a0002c0018 others(11): Show a0001c0002 a0002c0005 a0002c0018 a0003c0007 a0004c0006 a0005c0011 a0005c0012 a0006c0009 a0006c0023 a0008c0029 a0009c0015 a0011c0017 a0020c0031 a0021c0030	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(21): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0010 a0001c0002t0011 a0002c0005t0002 a0002c0005t0004 a0002c0005t0006 a0002c0018t0002 a0003c0007t0006 a0004c0006t0002 a0004c0006t0004 a0005c0011t0002 a0005c0012t0002 a0006c0009t0002 a0006c0023t0002 a0008c0029t0002 a0009c0015t0002 a0011c0017t0005 a0020c0031t0004 a0021c0030t0006	a0001c0002t0001g0013 a0001c0002t0001g0023 a0001c0002t0002g0001 others(89): Show a0001c0002t0001g0013 a0001c0002t0001g0023 a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0005 a0001c0002t0002g0007 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0024 a0001c0002t0002g0026 a0001c0002t0002g0032 a0001c0002t0002g0034 a0001c0002t0002g0043 a0001c0002t0002g0064 a0001c0002t0002g0081 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0123 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0135 a0001c0002t0002g0139 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0160 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0002g0208 a0001c0002t0002g0212 a0001c0002t0002g0217 a0001c0002t0002g0220 a0001c0002t0002g0225 a0001c0002t0004g0013 a0001c0002t0004g0021 a0001c0002t0004g0046 a0001c0002t0004g0052 a0001c0002t0004g0053 a0001c0002t0004g0094 a0001c0002t0005g0002 a0001c0002t0005g0018 a0001c0002t0005g0023 a0001c0002t0005g0095 a0001c0002t0005g0111 a0001c0002t0005g0114 a0001c0002t0005g0149 a0001c0002t0006g0145 a0001c0002t0006g0146 a0001c0002t0006g0185 a0001c0002t0007g0085 a0001c0002t0007g0181 a0001c0002t0010g0101 a0001c0002t0011g0093 a0002c0005t0002g0006 a0002c0005t0002g0016 a0002c0005t0002g0017 a0002c0005t0002g0028 a0002c0005t0002g0090 a0002c0005t0002g0121 a0002c0005t0002g0169 a0002c0005t0004g0137 a0002c0005t0006g0231 a0002c0018t0002g0006 a0003c0007t0006g0025 a0003c0007t0006g0117 a0003c0007t0006g0125 a0004c0006t0002g0049 a0004c0006t0002g0052 a0004c0006t0002g0129 a0004c0006t0004g0070 a0004c0006t0004g0161 a0004c0006t0004g0167 a0004c0006t0004g0180 a0005c0011t0002g0036 a0005c0012t0002g0087 a0005c0012t0002g0158 a0005c0012t0002g0215 a0006c0009t0002g0030 a0006c0009t0002g0138 a0006c0023t0002g0198 a0008c0029t0002g0207 a0009c0015t0002g0143 a0009c0015t0002g0144 a0011c0017t0005g0107 a0011c0017t0005g0131 a0020c0031t0004g0162 a0021c0030t0006g0141	123	480	0.2563	c.132 others(4): Show c.1323A>G	p.Ala others(6): Show p.Ala441Ala	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding	13/13	1426/2005	1323/1344	441/447	chr4	TogoVar
AMBP_chr9_114055127_114083300	114061476	G G	A A	synonymous_variant synonymous_variant	LOW	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0120 a0001c0009t0001g0120	1	454	0.0022	c.801 others(3): Show c.801C>T	p.Asn others(6): Show p.Asn267Asn	AMBP	ENSG00000106927.12	transcript	ENST00000265132.8	protein_coding	8/10	892/1262	801/1059	267/352	chr9	TogoVar
AMBP_chr9_114055127_114083300	114061494	G G	A A	synonymous_variant synonymous_variant	LOW	HG00438.hp2 HG01952.hp1 HG02280.hp1 others(13): Show HG00438.hp2 HG01952.hp1 HG02280.hp1 HG02615.hp2 HG02809.hp1 HG02922.hp2 HG03209.hp2 HG03654.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp2 NA18951.hp2 NA18989.hp2 NA18991.hp2 NA19067.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0001 a0001c0002t0002 a0001c0010t0001 a0001c0002t0001 a0001c0002t0002 a0001c0010t0001	a0001c0002t0001g0084 a0001c0002t0001g0219 a0001c0002t0001g0220 others(13): Show a0001c0002t0001g0084 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0224 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0295 a0001c0002t0002g0109 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0151 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0010t0001g0307	16	454	0.0352	c.783 others(3): Show c.783C>T	p.Tyr others(6): Show p.Tyr261Tyr	AMBP	ENSG00000106927.12	transcript	ENST00000265132.8	protein_coding	8/10	874/1262	783/1059	261/352	chr9	TogoVar
AMBP_chr9_114055127_114083300	114078135	C C	T T	synonymous_variant synonymous_variant	LOW	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0059 a0001c0005t0001g0059	1	454	0.0022	c.75G others(2): Show c.75G>A	p.Pro others(5): Show p.Pro25Pro	AMBP	ENSG00000106927.12	transcript	ENST00000265132.8	protein_coding	1/10	166/1262	75/1059	25/352	chr9	TogoVar
AMBP_chr9_114055127_114083300	114078156	G G	A A	synonymous_variant synonymous_variant	LOW	HG02922.hp2 HG02970.hp1 NA18906.hp1 HG02922.hp2 HG02970.hp1 NA18906.hp1	a0001 a0001	a0001c0004 a0001c0010 a0001c0004 a0001c0010	a0001c0004t0001 a0001c0010t0001 a0001c0004t0001 a0001c0010t0001	a0001c0004t0001g0305 a0001c0004t0001g0306 a0001c0010t0001g0307 a0001c0004t0001g0305 a0001c0004t0001g0306 a0001c0010t0001g0307	3	454	0.0066	c.54C others(2): Show c.54C>T	p.Ser others(5): Show p.Ser18Ser	AMBP	ENSG00000106927.12	transcript	ENST00000265132.8	protein_coding	1/10	145/1262	54/1059	18/352	chr9	TogoVar
AMBRA1_chr11_46391414_46599023	46397861	G G	A A	synonymous_variant synonymous_variant	LOW	HG01109.hp2 HG01261.hp2 HG01884.hp1 others(18): Show HG01109.hp2 HG01261.hp2 HG01884.hp1 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02572.hp2 HG02630.hp1 HG02886.hp1 HG02895.hp1 HG03041.hp2 HG03130.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2 NA18522.hp2 NA19030.hp2 NA19240.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0010 a0001c0002 a0003c0010	a0001c0002t0002 a0003c0010t0002 a0001c0002t0002 a0003c0010t0002	a0001c0002t0002g0013 a0001c0002t0002g0047 a0001c0002t0002g0099 others(18): Show a0001c0002t0002g0013 a0001c0002t0002g0047 a0001c0002t0002g0099 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0110 a0001c0002t0002g0124 a0001c0002t0002g0129 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0156 a0003c0010t0002g0149	21	160	0.1313	c.348 others(4): Show c.3486C>T	p.Ala others(7): Show p.Ala1162Ala	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	18/18	3802/5249	3486/3897	1162/1298	chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46434889	G G	C C	synonymous_variant synonymous_variant	LOW	HG01496.hp1 NA18522.hp1 HG01496.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0055 a0001c0004t0001g0120 a0001c0004t0001g0055 a0001c0004t0001g0120	2	160	0.0125	c.278 others(4): Show c.2781C>G	p.Ala others(6): Show p.Ala927Ala	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	13/18	3097/5249	2781/3897	927/1298	chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46542142	T T	C C	synonymous_variant synonymous_variant	LOW	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0031 a0001c0009t0001g0031	1	160	0.0063	c.187 others(4): Show c.1875A>G	p.Gln others(6): Show p.Gln625Gln	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	7/18	2191/5249	1875/3897	625/1298	chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46542541	C C	T T	synonymous_variant synonymous_variant	LOW	HG02280.hp2 HG02615.hp2 HG02818.hp2 others(5): Show HG02280.hp2 HG02615.hp2 HG02818.hp2 HG02922.hp1 HG03225.hp2 HG03453.hp2 HG03579.hp1 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0004 a0001c0003t0001 a0001c0003t0004	a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0001g0006 others(5): Show a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0004g0008 a0001c0003t0004g0009 a0001c0003t0004g0010 a0001c0003t0004g0011	8	160	0.0500	c.147 others(4): Show c.1476G>A	p.Ser others(6): Show p.Ser492Ser	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	7/18	1792/5249	1476/3897	492/1298	chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46547290	G G	A A	synonymous_variant synonymous_variant	LOW	HG01109.hp1 HG02965.hp1 HG01109.hp1 HG02965.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0012 a0001c0005t0001g0022 a0001c0005t0001g0012 a0001c0005t0001g0022	2	160	0.0125	c.201 others(3): Show c.201C>T	p.Leu others(5): Show p.Leu67Leu	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	4/18	517/5249	201/3897	67/1298	chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46548342	G G	C C	synonymous_variant synonymous_variant	LOW	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0094 a0001c0012t0001g0094	1	160	0.0063	c.39C others(2): Show c.39C>G	p.Leu others(5): Show p.Leu13Leu	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	2/18	355/5249	39/3897	13/1298	chr11	TogoVar
AMDHD1_chr12_95938331_95973720	95943447	C C	T T	synonymous_variant synonymous_variant	LOW	HG00423.hp2 HG00544.hp1 HG00558.hp1 others(102): Show HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00735.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01975.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02165.hp2 HG02523.hp2 HG03017.hp1 HG03130.hp2 HG03239.hp2 HG03491.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18959.hp2 NA18962.hp1 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp2 NA18985.hp1 NA18986.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19009.hp1 NA19012.hp1 NA19054.hp1 NA19055.hp1 NA19058.hp2 NA19063.hp2 NA19066.hp2 NA19068.hp2 NA19072.hp1 NA19076.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19087.hp1 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0007 a0008	a0001c0002 a0001c0004 a0001c0011 others(4): Show a0001c0002 a0001c0004 a0001c0011 a0003c0006 a0006c0012 a0007c0013 a0008c0014	a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 others(7): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 a0001c0004t0002 a0001c0011t0002 a0003c0006t0002 a0006c0012t0002 a0007c0013t0006 a0008c0014t0003	a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0007 others(71): Show a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0007 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0047 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0260 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0003g0018 a0001c0002t0003g0019 a0001c0002t0003g0043 a0001c0002t0003g0044 a0001c0002t0003g0261 a0001c0002t0003g0262 a0001c0002t0003g0270 a0001c0002t0003g0271 a0001c0002t0003g0272 a0001c0002t0003g0273 a0001c0002t0003g0274 a0001c0002t0003g0282 a0001c0002t0003g0291 a0001c0002t0003g0292 a0001c0002t0003g0293 a0001c0002t0003g0294 a0001c0002t0003g0296 a0001c0002t0003g0297 a0001c0002t0003g0298 a0001c0002t0003g0299 a0001c0002t0003g0300 a0001c0002t0003g0301 a0001c0002t0003g0302 a0001c0002t0003g0303 a0001c0002t0003g0304 a0001c0002t0003g0305 a0001c0002t0006g0045 a0001c0002t0008g0295 a0001c0004t0002g0266 a0001c0004t0002g0267 a0001c0004t0002g0283 a0001c0011t0002g0284 a0003c0006t0002g0245 a0003c0006t0002g0248 a0006c0012t0002g0259 a0007c0013t0006g0046 a0008c0014t0003g0048	105	404	0.2599	c.49C others(2): Show c.49C>T	p.Leu others(5): Show p.Leu17Leu	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	1/9	117/2226	49/1281	17/426	chr12	TogoVar
AMDHD1_chr12_95938331_95973720	95952807	G G	A A	synonymous_variant synonymous_variant	LOW	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0284 a0001c0011t0002g0284	1	404	0.0025	c.228 others(3): Show c.228G>A	p.Gly others(5): Show p.Gly76Gly	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	2/9	296/2226	228/1281	76/426	chr12	TogoVar
AMDHD1_chr12_95938331_95973720	95952816	T T	C C	synonymous_variant synonymous_variant	LOW	HG00423.hp2 HG00544.hp1 HG00558.hp1 others(99): Show HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00735.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01109.hp1 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01975.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02165.hp2 HG02523.hp2 HG03017.hp1 HG03239.hp2 HG03491.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18959.hp2 NA18962.hp1 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp2 NA18985.hp1 NA18986.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19009.hp1 NA19012.hp1 NA19054.hp1 NA19055.hp1 NA19058.hp2 NA19063.hp2 NA19066.hp2 NA19068.hp2 NA19072.hp1 NA19076.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19087.hp1 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0007 a0008	a0001c0002 a0001c0011 a0003c0006 others(3): Show a0001c0002 a0001c0011 a0003c0006 a0006c0012 a0007c0013 a0008c0014	a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 others(6): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 a0001c0011t0002 a0003c0006t0002 a0006c0012t0002 a0007c0013t0006 a0008c0014t0003	a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0007 others(68): Show a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0007 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0047 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0260 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0003g0018 a0001c0002t0003g0019 a0001c0002t0003g0043 a0001c0002t0003g0044 a0001c0002t0003g0261 a0001c0002t0003g0262 a0001c0002t0003g0270 a0001c0002t0003g0271 a0001c0002t0003g0272 a0001c0002t0003g0273 a0001c0002t0003g0274 a0001c0002t0003g0282 a0001c0002t0003g0291 a0001c0002t0003g0292 a0001c0002t0003g0293 a0001c0002t0003g0294 a0001c0002t0003g0296 a0001c0002t0003g0297 a0001c0002t0003g0298 a0001c0002t0003g0299 a0001c0002t0003g0300 a0001c0002t0003g0301 a0001c0002t0003g0302 a0001c0002t0003g0303 a0001c0002t0003g0304 a0001c0002t0003g0305 a0001c0002t0006g0045 a0001c0002t0008g0295 a0001c0011t0002g0284 a0003c0006t0002g0245 a0003c0006t0002g0248 a0006c0012t0002g0259 a0007c0013t0006g0046 a0008c0014t0003g0048	102	404	0.2525	c.237 others(3): Show c.237T>C	p.Ile others(5): Show p.Ile79Ile	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	2/9	305/2226	237/1281	79/426	chr12	TogoVar
AMDHD1_chr12_95938331_95973720	95960539	C C	A A	synonymous_variant synonymous_variant	LOW	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0005 a0001c0007t0001g0005	1	404	0.0025	c.729 others(3): Show c.729C>A	p.Thr others(6): Show p.Thr243Thr	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	5/9	797/2226	729/1281	243/426	chr12	TogoVar
AMDHD1_chr12_95938331_95973720	95960623	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0038 a0001c0008t0001g0038	1	404	0.0025	c.813 others(3): Show c.813G>A	p.Glu others(6): Show p.Glu271Glu	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	5/9	881/2226	813/1281	271/426	chr12	TogoVar
AMDHD2_chr16_2515371_2536417	2528130	C C	G G	synonymous_variant synonymous_variant	LOW	HG02280.hp2 HG02486.hp2 HG02647.hp2 others(8): Show HG02280.hp2 HG02486.hp2 HG02647.hp2 HG02895.hp2 HG02976.hp1 HG03139.hp1 HG03195.hp1 HG03486.hp1 HG03540.hp2 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0030 a0001c0002t0002g0006 a0001c0002t0002g0030	11	318	0.0346	c.699 others(3): Show c.699C>G	p.Leu others(6): Show p.Leu233Leu	AMDHD2	ENSG00000162066.16	transcript	ENST00000293971.11	protein_coding	6/11	787/3172	699/1230	233/409	chr16	TogoVar
AMDHD2_chr16_2515371_2536417	2528130	C C	T T	synonymous_variant synonymous_variant	LOW	HG00438.hp1 HG02015.hp2 HG02040.hp1 others(2): Show HG00438.hp1 HG02015.hp2 HG02040.hp1 NA18968.hp2 NA18983.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0013 a0001c0003t0001g0087 a0001c0003t0001g0013 a0001c0003t0001g0087	5	318	0.0157	c.699 others(3): Show c.699C>T	p.Leu others(6): Show p.Leu233Leu	AMDHD2	ENSG00000162066.16	transcript	ENST00000293971.11	protein_coding	6/11	787/3172	699/1230	233/409	chr16	TogoVar
AMELX_chrX_11288413_11305761	11298622	C C	T T	synonymous_variant synonymous_variant	LOW	HG00323.hp2 HG00639.hp2 HG01070.hp1 others(35): Show HG00323.hp2 HG00639.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01517.hp1 HG02055.hp1 HG02109.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02698.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03130.hp1 HG03195.hp2 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG03704.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19082.hp1 NA19240.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0008 others(3): Show a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0008 a0001c0002t0001g0011 a0001c0002t0001g0021 a0001c0002t0001g0036	38	300	0.1267	c.219 others(3): Show c.219C>T	p.His others(5): Show p.His73His	AMELX	ENSG00000125363.14	transcript	ENST00000380714.7	protein_coding	5/6	287/793	219/576	73/191	chrX	TogoVar
AMELX_chrX_11288413_11305761	11298637	C C	G G	synonymous_variant synonymous_variant	LOW	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0001 a0001c0005t0001g0001	1	300	0.0033	c.234 others(3): Show c.234C>G	p.Thr others(5): Show p.Thr78Thr	AMELX	ENSG00000125363.14	transcript	ENST00000380714.7	protein_coding	5/6	302/793	234/576	78/191	chrX	TogoVar
AMER1_chrX_64180117_64210708	64189951	C C	T T	synonymous_variant synonymous_variant	LOW	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0026 a0002c0012t0026	a0002c0012t0026g0050 a0002c0012t0026g0050	1	243	0.0041	c.333 others(4): Show c.3336G>A	p.Glu others(7): Show p.Glu1112Glu	AMER1	ENSG00000184675.11	transcript	ENST00000374869.8	protein_coding	2/2	3573/8407	3336/3408	1112/1135	chrX	TogoVar
AMER1_chrX_64180117_64210708	64190230	T T	C C	synonymous_variant synonymous_variant	LOW	HG00639.hp1 HG00735.hp2 HG00738.hp1 others(71): Show HG00639.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01167.hp1 HG01169.hp1 HG01243.hp1 HG01255.hp1 HG01975.hp1 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19079.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0011	a0001c0003 a0001c0017 a0002c0002 others(4): Show a0001c0003 a0001c0017 a0002c0002 a0002c0012 a0004c0005 a0005c0006 a0011c0011	a0001c0003t0003 a0001c0003t0013 a0001c0003t0022 others(44): Show a0001c0003t0003 a0001c0003t0013 a0001c0003t0022 a0001c0003t0032 a0001c0003t0034 a0001c0003t0035 a0001c0003t0037 a0001c0003t0049 a0001c0003t0054 a0001c0003t0056 a0001c0003t0057 a0001c0003t0062 a0001c0003t0072 a0001c0003t0073 a0001c0003t0075 a0001c0003t0076 a0001c0003t0077 a0001c0003t0080 a0001c0003t0084 a0001c0003t0087 a0001c0003t0088 a0001c0003t0089 a0001c0017t0082 a0002c0002t0003 a0002c0002t0010 a0002c0002t0011 a0002c0002t0016 a0002c0002t0017 a0002c0002t0025 a0002c0002t0027 a0002c0002t0047 a0002c0002t0051 a0002c0002t0052 a0002c0002t0053 a0002c0002t0055 a0002c0002t0058 a0002c0002t0059 a0002c0002t0060 a0002c0002t0091 a0002c0002t0092 a0002c0002t0093 a0002c0012t0026 a0004c0005t0010 a0004c0005t0026 a0005c0006t0048 a0005c0006t0050 a0011c0011t0027	a0001c0003t0003g0052 a0001c0003t0013g0011 a0001c0003t0013g0160 others(55): Show a0001c0003t0003g0052 a0001c0003t0013g0011 a0001c0003t0013g0160 a0001c0003t0022g0008 a0001c0003t0032g0031 a0001c0003t0034g0032 a0001c0003t0035g0033 a0001c0003t0037g0155 a0001c0003t0037g0163 a0001c0003t0049g0053 a0001c0003t0054g0076 a0001c0003t0056g0054 a0001c0003t0057g0046 a0001c0003t0062g0048 a0001c0003t0072g0154 a0001c0003t0073g0049 a0001c0003t0075g0161 a0001c0003t0076g0162 a0001c0003t0077g0153 a0001c0003t0080g0156 a0001c0003t0084g0157 a0001c0003t0087g0158 a0001c0003t0088g0159 a0001c0003t0089g0164 a0001c0017t0082g0047 a0002c0002t0003g0006 a0002c0002t0003g0015 a0002c0002t0003g0016 a0002c0002t0003g0057 a0002c0002t0010g0014 a0002c0002t0010g0064 a0002c0002t0011g0017 a0002c0002t0011g0037 a0002c0002t0011g0069 a0002c0002t0016g0013 a0002c0002t0016g0056 a0002c0002t0017g0018 a0002c0002t0017g0058 a0002c0002t0025g0055 a0002c0002t0025g0068 a0002c0002t0027g0062 a0002c0002t0047g0067 a0002c0002t0051g0038 a0002c0002t0052g0051 a0002c0002t0053g0171 a0002c0002t0055g0061 a0002c0002t0058g0070 a0002c0002t0059g0152 a0002c0002t0060g0066 a0002c0002t0091g0071 a0002c0002t0092g0075 a0002c0002t0093g0072 a0002c0012t0026g0050 a0004c0005t0010g0065 a0004c0005t0026g0060 a0005c0006t0048g0073 a0005c0006t0050g0074 a0011c0011t0027g0063	74	243	0.3045	c.305 others(4): Show c.3057A>G	p.Gln others(7): Show p.Gln1019Gln	AMER1	ENSG00000184675.11	transcript	ENST00000374869.8	protein_coding	2/2	3294/8407	3057/3408	1019/1135	chrX	TogoVar
AMER1_chrX_64180117_64210708	64190767	G G	A A	synonymous_variant synonymous_variant	LOW	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0121 a0001c0016t0001g0121	1	243	0.0041	c.252 others(4): Show c.2520C>T	p.Ala others(6): Show p.Ala840Ala	AMER1	ENSG00000184675.11	transcript	ENST00000374869.8	protein_coding	2/2	2757/8407	2520/3408	840/1135	chrX	TogoVar
AMER1_chrX_64180117_64210708	64190854	G G	A A	synonymous_variant synonymous_variant	LOW	NA18968.hp1 NA19055.hp1 NA18968.hp1 NA19055.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0009 a0001c0007t0015 a0001c0007t0009 a0001c0007t0015	a0001c0007t0009g0043 a0001c0007t0015g0122 a0001c0007t0009g0043 a0001c0007t0015g0122	2	243	0.0082	c.243 others(4): Show c.2433C>T	p.Ile others(6): Show p.Ile811Ile	AMER1	ENSG00000184675.11	transcript	ENST00000374869.8	protein_coding	2/2	2670/8407	2433/3408	811/1135	chrX	TogoVar
AMER1_chrX_64180117_64210708	64192150	G G	A A	synonymous_variant synonymous_variant	LOW	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0082 a0001c0017t0082	a0001c0017t0082g0047 a0001c0017t0082g0047	1	243	0.0041	c.113 others(4): Show c.1137C>T	p.Asp others(6): Show p.Asp379Asp	AMER1	ENSG00000184675.11	transcript	ENST00000374869.8	protein_coding	2/2	1374/8407	1137/3408	379/1135	chrX	TogoVar
AMER1_chrX_64180117_64210708	64193152	G G	A A	synonymous_variant synonymous_variant	LOW	HG02683.hp1 NA21309.hp1 HG02683.hp1 NA21309.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0008 a0001c0008t0005 a0001c0008t0008	a0001c0008t0005g0124 a0001c0008t0008g0123 a0001c0008t0005g0124 a0001c0008t0008g0123	2	243	0.0082	c.135 others(3): Show c.135C>T	p.Ser others(5): Show p.Ser45Ser	AMER1	ENSG00000184675.11	transcript	ENST00000374869.8	protein_coding	2/2	372/8407	135/3408	45/1135	chrX	TogoVar
AMER2_chr13_25156679_25177288	25169874	G G	A A	synonymous_variant synonymous_variant	LOW	HG06807.hp2 NA19030.hp2 HG06807.hp2 NA19030.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0041 a0001c0006t0078 a0001c0006t0041 a0001c0006t0078	a0001c0006t0041g0000 a0001c0006t0078g0000 a0001c0006t0041g0000 a0001c0006t0078g0000	2	416	0.0048	c.174 others(4): Show c.1746C>T	p.Ser others(6): Show p.Ser582Ser	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding	1/1	2415/10610	1746/2016	582/671	chr13	TogoVar
AMER2_chr13_25156679_25177288	25169934	C C	T T	synonymous_variant synonymous_variant	LOW	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0000 a0001c0005t0003g0000	2	416	0.0048	c.168 others(4): Show c.1686G>A	p.Pro others(6): Show p.Pro562Pro	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding	1/1	2355/10610	1686/2016	562/671	chr13	TogoVar
AMER2_chr13_25156679_25177288	25170375	C C	A A	synonymous_variant synonymous_variant	LOW	HG03710.hp1 HG03834.hp1 HG03710.hp1 HG03834.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0009 a0001c0007t0001 a0001c0007t0009	a0001c0007t0001g0000 a0001c0007t0009g0000 a0001c0007t0001g0000 a0001c0007t0009g0000	2	416	0.0048	c.124 others(4): Show c.1245G>T	p.Val others(6): Show p.Val415Val	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding	1/1	1914/10610	1245/2016	415/671	chr13	TogoVar
AMER2_chr13_25156679_25177288	25170939	G G	A A	synonymous_variant synonymous_variant	LOW	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0000 a0001c0013t0001g0000	1	416	0.0024	c.681 others(3): Show c.681C>T	p.Pro others(6): Show p.Pro227Pro	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding	1/1	1350/10610	681/2016	227/671	chr13	TogoVar
AMER2_chr13_25156679_25177288	25170942	T T	C C	synonymous_variant synonymous_variant	LOW	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0048 a0001c0014t0048	a0001c0014t0048g0000 a0001c0014t0048g0000	1	416	0.0024	c.678 others(3): Show c.678A>G	p.Leu others(6): Show p.Leu226Leu	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding	1/1	1347/10610	678/2016	226/671	chr13	TogoVar
AMER2_chr13_25156679_25177288	25170960	G G	C C	synonymous_variant synonymous_variant	LOW	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0005 a0001c0015t0005	a0001c0015t0005g0000 a0001c0015t0005g0000	1	416	0.0024	c.660 others(3): Show c.660C>G	p.Pro others(6): Show p.Pro220Pro	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding	1/1	1329/10610	660/2016	220/671	chr13	TogoVar
AMER3_chr2_130750540_130773134	130762303	A A	T T	synonymous_variant synonymous_variant	LOW	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0001 a0001c0030t0001	a0001c0030t0001g0003 a0001c0030t0001g0003	1	360	0.0028	c.231 others(3): Show c.231A>T	p.Gly others(5): Show p.Gly77Gly	AMER3	ENSG00000178171.12	transcript	ENST00000321420.5	protein_coding	2/2	385/6216	231/2586	77/861	chr2	TogoVar
AMER3_chr2_130750540_130773134	130762423	C C	T T	synonymous_variant synonymous_variant	LOW	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0036 a0001c0029t0036	a0001c0029t0036g0001 a0001c0029t0036g0001	1	360	0.0028	c.351 others(3): Show c.351C>T	p.Phe others(6): Show p.Phe117Phe	AMER3	ENSG00000178171.12	transcript	ENST00000321420.5	protein_coding	2/2	505/6216	351/2586	117/861	chr2	TogoVar
AMER3_chr2_130750540_130773134	130762672	C C	T T	synonymous_variant synonymous_variant	LOW	HG02258.hp2 HG03453.hp2 NA19030.hp2 HG02258.hp2 HG03453.hp2 NA19030.hp2	a0005 a0011 a0005 a0011	a0005c0027 a0005c0028 a0011c0026 a0005c0027 a0005c0028 a0011c0026	a0005c0027t0050 a0005c0028t0049 a0011c0026t0025 a0005c0027t0050 a0005c0028t0049 a0011c0026t0025	a0005c0027t0050g0054 a0005c0028t0049g0056 a0011c0026t0025g0055 a0005c0027t0050g0054 a0005c0028t0049g0056 a0011c0026t0025g0055	3	360	0.0083	c.600 others(3): Show c.600C>T	p.Ala others(6): Show p.Ala200Ala	AMER3	ENSG00000178171.12	transcript	ENST00000321420.5	protein_coding	2/2	754/6216	600/2586	200/861	chr2	TogoVar
AMER3_chr2_130750540_130773134	130762858	T T	C C	synonymous_variant synonymous_variant	LOW	HG02258.hp2 HG03453.hp2 NA19030.hp2 HG02258.hp2 HG03453.hp2 NA19030.hp2	a0005 a0011 a0005 a0011	a0005c0027 a0005c0028 a0011c0026 a0005c0027 a0005c0028 a0011c0026	a0005c0027t0050 a0005c0028t0049 a0011c0026t0025 a0005c0027t0050 a0005c0028t0049 a0011c0026t0025	a0005c0027t0050g0054 a0005c0028t0049g0056 a0011c0026t0025g0055 a0005c0027t0050g0054 a0005c0028t0049g0056 a0011c0026t0025g0055	3	360	0.0083	c.786 others(3): Show c.786T>C	p.Ser others(6): Show p.Ser262Ser	AMER3	ENSG00000178171.12	transcript	ENST00000321420.5	protein_coding	2/2	940/6216	786/2586	262/861	chr2	TogoVar
AMER3_chr2_130750540_130773134	130762870	C C	T T	synonymous_variant synonymous_variant	LOW	HG03453.hp2 HG03453.hp2	a0005 a0005	a0005c0028 a0005c0028	a0005c0028t0049 a0005c0028t0049	a0005c0028t0049g0056 a0005c0028t0049g0056	1	360	0.0028	c.798 others(3): Show c.798C>T	p.Asn others(6): Show p.Asn266Asn	AMER3	ENSG00000178171.12	transcript	ENST00000321420.5	protein_coding	2/2	952/6216	798/2586	266/861	chr2	TogoVar

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