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
ARID5A_chr2_96531752_96557634	96547492	G G	T T	missense_variant missense_variant	MODERATE	HG01361.hp1 HG01934.hp2 HG01978.hp2 others(4): Show HG01361.hp1 HG01934.hp2 HG01978.hp2 NA18612.hp1 NA18962.hp2 NA18986.hp1 NA18989.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0085 a0002c0002t0001g0001 a0002c0002t0001g0085	7	374	0.0187	c.95G others(2): Show c.95G>T	p.Gly others(5): Show p.Gly32Val	ARID5A	ENSG00000196843.17	transcript	ENST00000357485.8	protein_coding	2/7	170/2181	95/1785	32/594	chr2	TogoVar
ARID5A_chr2_96531752_96557634	96551459	C C	T T	missense_variant missense_variant	MODERATE	NA18945.hp2 NA18945.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0002 a0007c0010t0001g0002	1	374	0.0027	c.931 others(3): Show c.931C>T	p.Arg others(6): Show p.Arg311Trp	ARID5A	ENSG00000196843.17	transcript	ENST00000357485.8	protein_coding	7/7	1006/2181	931/1785	311/594	chr2	TogoVar
ARID5A_chr2_96531752_96557634	96552194	C C	A A	missense_variant missense_variant	MODERATE	NA19067.hp1 NA19067.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0091 a0006c0005t0001g0091	1	374	0.0027	c.166 others(4): Show c.1666C>A	p.Pro others(6): Show p.Pro556Thr	ARID5A	ENSG00000196843.17	transcript	ENST00000357485.8	protein_coding	7/7	1741/2181	1666/1785	556/594	chr2	TogoVar
ARID5A_chr2_96531752_96557634	96552254	G G	A A	missense_variant missense_variant	MODERATE	HG00642.hp1 HG00642.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0062 a0005c0007t0002g0062	1	374	0.0027	c.172 others(4): Show c.1726G>A	p.Ala others(6): Show p.Ala576Thr	ARID5A	ENSG00000196843.17	transcript	ENST00000357485.8	protein_coding	7/7	1801/2181	1726/1785	576/594	chr2	TogoVar
ARID5A_chr2_96531752_96557634	96552279	C C	T T	missense_variant missense_variant	MODERATE	HG01361.hp2 HG01361.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0008 a0004c0008t0001g0008	1	374	0.0027	c.175 others(4): Show c.1751C>T	p.Ala others(6): Show p.Ala584Val	ARID5A	ENSG00000196843.17	transcript	ENST00000357485.8	protein_coding	7/7	1826/2181	1751/1785	584/594	chr2	TogoVar
ARID5B_chr10_61896699_62101944	62091003	C C	T T	missense_variant missense_variant	MODERATE	HG02074.hp2 HG02074.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0002 a0004c0010t0002	a0004c0010t0002g0009 a0004c0010t0002g0009	1	242	0.0041	c.154 others(4): Show c.1540C>T	p.Pro others(6): Show p.Pro514Ser	ARID5B	ENSG00000150347.17	transcript	ENST00000279873.12	protein_coding	10/10	1551/7492	1540/3567	514/1188	chr10	TogoVar
ARID5B_chr10_61896699_62101944	62091315	G G	A A	missense_variant missense_variant	MODERATE	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0121 a0003c0008t0003g0121	1	242	0.0041	c.185 others(4): Show c.1852G>A	p.Ala others(6): Show p.Ala618Thr	ARID5B	ENSG00000150347.17	transcript	ENST00000279873.12	protein_coding	10/10	1863/7492	1852/3567	618/1188	chr10	TogoVar
ARID5B_chr10_61896699_62101944	62091865	T T	C C	missense_variant missense_variant	MODERATE	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0121 a0003c0008t0003g0121	1	242	0.0041	c.240 others(4): Show c.2402T>C	p.Val others(6): Show p.Val801Ala	ARID5B	ENSG00000150347.17	transcript	ENST00000279873.12	protein_coding	10/10	2413/7492	2402/3567	801/1188	chr10	TogoVar
ARID5B_chr10_61896699_62101944	62092591	A A	G G	missense_variant missense_variant	MODERATE	NA18953.hp2 NA18953.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0004 a0002c0009t0004	a0002c0009t0004g0063 a0002c0009t0004g0063	1	242	0.0041	c.312 others(4): Show c.3128A>G	p.Lys others(7): Show p.Lys1043Arg	ARID5B	ENSG00000150347.17	transcript	ENST00000279873.12	protein_coding	10/10	3139/7492	3128/3567	1043/1188	chr10	TogoVar
ARIH1_chr15_72469330_72607987	72544893	C C	T T	missense_variant missense_variant	MODERATE	NA20752.hp1 NA20752.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0151 a0003c0004t0002g0151	1	262	0.0038	c.517 others(3): Show c.517C>T	p.Arg others(6): Show p.Arg173Cys	ARIH1	ENSG00000166233.15	transcript	ENST00000379887.9	protein_coding	3/14	827/21679	517/1674	173/557	chr15	TogoVar
ARIH2_chr3_48913842_48991382	48927645	A A	C C	missense_variant missense_variant	MODERATE	HG00741.hp1 HG01952.hp1 HG00741.hp1 HG01952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0052 a0002c0002t0006g0053 a0002c0002t0006g0052 a0002c0002t0006g0053	2	202	0.0099	c.87A others(2): Show c.87A>C	p.Glu others(5): Show p.Glu29Asp	ARIH2	ENSG00000177479.20	transcript	ENST00000356401.9	protein_coding	3/16	405/4912	87/1482	29/493	chr3	TogoVar
ARK2C_chr18_46329018_46468140	46456066	T T	G G	missense_variant missense_variant	MODERATE	HG03492.hp2 HG03492.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0125 a0002c0003t0005g0125	1	260	0.0039	c.909 others(3): Show c.909T>G	p.Asp others(6): Show p.Asp303Glu	ARK2C	ENSG00000141622.14	transcript	ENST00000269439.12	protein_coding	7/8	1166/7802	909/1041	303/346	chr18	TogoVar
ARK2N_chr18_46169034_46271992	46216020	C C	T T	missense_variant missense_variant	MODERATE	HG02451.hp1 HG02559.hp1 NA18522.hp2 HG02451.hp1 HG02559.hp1 NA18522.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0013 a0003c0003t0013	a0003c0003t0013g0010 a0003c0003t0013g0011 a0003c0003t0013g0012 a0003c0003t0013g0010 a0003c0003t0013g0011 a0003c0003t0013g0012	3	320	0.0094	c.140 others(3): Show c.140C>T	p.Ala others(5): Show p.Ala47Val	ARK2N	ENSG00000152242.11	transcript	ENST00000615052.5	protein_coding	2/5	507/5456	140/1215	47/404	chr18	TogoVar
ARK2N_chr18_46169034_46271992	46216473	A A	G G	missense_variant missense_variant	MODERATE	HG01884.hp1 HG01884.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0012 a0004c0006t0012	a0004c0006t0012g0016 a0004c0006t0012g0016	1	320	0.0031	c.593 others(3): Show c.593A>G	p.Tyr others(6): Show p.Tyr198Cys	ARK2N	ENSG00000152242.11	transcript	ENST00000615052.5	protein_coding	2/5	960/5456	593/1215	198/404	chr18	TogoVar
ARK2N_chr18_46169034_46271992	46240044	C C	A A	missense_variant missense_variant	MODERATE	HG00741.hp1 HG00741.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0094 a0005c0005t0003g0094	1	320	0.0031	c.755 others(3): Show c.755C>A	p.Thr others(6): Show p.Thr252Asn	ARK2N	ENSG00000152242.11	transcript	ENST00000615052.5	protein_coding	3/5	1122/5456	755/1215	252/404	chr18	TogoVar
ARL10_chr5_176360487_176386909	176365585	C C	A A	missense_variant missense_variant	MODERATE	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0151 a0002c0005t0151	a0002c0005t0151g0001 a0002c0005t0151g0001	1	418	0.0024	c.22C others(2): Show c.22C>A	p.Pro others(4): Show p.Pro8Thr	ARL10	ENSG00000175414.7	transcript	ENST00000310389.6	protein_coding	1/4	99/10826	22/735	8/244	chr5	TogoVar
ARL11_chr13_49623507_49638872	49630730	C C	T T	missense_variant missense_variant	MODERATE	HG02083.hp1 HG02083.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0001 a0006c0011t0001g0001	1	456	0.0022	c.283 others(3): Show c.283C>T	p.Arg others(5): Show p.Arg95Cys	ARL11	ENSG00000152213.4	transcript	ENST00000282026.2	protein_coding	2/2	410/3552	283/591	95/196	chr13	TogoVar
ARL11_chr13_49623507_49638872	49630839	C C	T T	missense_variant missense_variant	MODERATE	HG00738.hp1 HG01074.hp1 HG01168.hp2 others(3): Show HG00738.hp1 HG01074.hp1 HG01168.hp2 HG02015.hp2 HG02735.hp1 NA18984.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0001 a0003c0005t0001g0003 a0003c0005t0001g0007 a0003c0005t0001g0001 a0003c0005t0001g0003 a0003c0005t0001g0007	6	456	0.0132	c.392 others(3): Show c.392C>T	p.Pro others(6): Show p.Pro131Leu	ARL11	ENSG00000152213.4	transcript	ENST00000282026.2	protein_coding	2/2	519/3552	392/591	131/196	chr13	TogoVar
ARL11_chr13_49623507_49638872	49630889	T T	C C	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(96): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00597.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01515.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp2 HG02071.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02273.hp2 HG02293.hp2 HG02486.hp1 HG02523.hp2 HG02683.hp1 HG02735.hp2 HG02738.hp2 HG02922.hp2 HG03239.hp1 HG03453.hp2 HG03491.hp2 HG03492.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp2 HG04199.hp1 HG06807.hp1 NA18612.hp2 NA18906.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18964.hp2 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18977.hp2 NA18979.hp1 NA18982.hp2 NA18987.hp1 NA18987.hp2 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18999.hp1 NA19006.hp1 NA19007.hp1 NA19011.hp2 NA19055.hp2 NA19057.hp2 NA19068.hp1 NA19080.hp1 NA19084.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0011 a0002c0002t0016 others(1): Show a0002c0002t0002 a0002c0002t0011 a0002c0002t0016 a0002c0002t0017	a0002c0002t0002g0001 a0002c0002t0002g0006 a0002c0002t0002g0009 others(4): Show a0002c0002t0002g0001 a0002c0002t0002g0006 a0002c0002t0002g0009 a0002c0002t0002g0011 a0002c0002t0011g0001 a0002c0002t0016g0001 a0002c0002t0017g0001	99	456	0.2171	c.442 others(3): Show c.442T>C	p.Cys others(6): Show p.Cys148Arg	ARL11	ENSG00000152213.4	transcript	ENST00000282026.2	protein_coding	2/2	569/3552	442/591	148/196	chr13	TogoVar
ARL11_chr13_49623507_49638872	49630995	C C	A A	missense_variant missense_variant	MODERATE	HG03579.hp2 HG03579.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0026 a0008c0009t0026	a0008c0009t0026g0019 a0008c0009t0026g0019	1	456	0.0022	c.548 others(3): Show c.548C>A	p.Ala others(6): Show p.Ala183Glu	ARL11	ENSG00000152213.4	transcript	ENST00000282026.2	protein_coding	2/2	675/3552	548/591	183/196	chr13	TogoVar
ARL11_chr13_49623507_49638872	49631003	C C	T T	missense_variant missense_variant	MODERATE	HG03579.hp2 HG03579.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0026 a0008c0009t0026	a0008c0009t0026g0019 a0008c0009t0026g0019	1	456	0.0022	c.556 others(3): Show c.556C>T	p.His others(6): Show p.His186Tyr	ARL11	ENSG00000152213.4	transcript	ENST00000282026.2	protein_coding	2/2	683/3552	556/591	186/196	chr13	TogoVar
ARL11_chr13_49623507_49638872	49631004	A A	G G	missense_variant missense_variant	MODERATE	HG03579.hp2 HG03579.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0026 a0008c0009t0026	a0008c0009t0026g0019 a0008c0009t0026g0019	1	456	0.0022	c.557 others(3): Show c.557A>G	p.His others(6): Show p.His186Arg	ARL11	ENSG00000152213.4	transcript	ENST00000282026.2	protein_coding	2/2	684/3552	557/591	186/196	chr13	TogoVar
ARL11_chr13_49623507_49638872	49631022	A A	G G	missense_variant missense_variant	MODERATE	HG01109.hp2 HG01109.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0002 a0007c0010t0001g0002	1	456	0.0022	c.575 others(3): Show c.575A>G	p.Asp others(6): Show p.Asp192Gly	ARL11	ENSG00000152213.4	transcript	ENST00000282026.2	protein_coding	2/2	702/3552	575/591	192/196	chr13	TogoVar
ARL11_chr13_49623507_49638872	49631029	G G	C C	missense_variant missense_variant	MODERATE	HG01975.hp1 HG02258.hp2 HG02647.hp2 HG01975.hp1 HG02258.hp2 HG02647.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0008 a0005c0007t0008	a0005c0007t0008g0003 a0005c0007t0008g0003	3	456	0.0066	c.582 others(3): Show c.582G>C	p.Lys others(6): Show p.Lys194Asn	ARL11	ENSG00000152213.4	transcript	ENST00000282026.2	protein_coding	2/2	709/3552	582/591	194/196	chr13	TogoVar
ARL13A_chrX_100964708_100995831	100987481	G G	T T	missense_variant missense_variant	MODERATE	HG03669.hp1 HG03669.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0165 a0004c0004t0002g0165	1	280	0.0036	c.578 others(3): Show c.578G>T	p.Cys others(6): Show p.Cys193Phe	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	6/8	694/1130	578/771	193/256	chrX	TogoVar
ARL13A_chrX_100964708_100995831	100987547	C C	T T	missense_variant missense_variant	MODERATE	HG00621.hp1 HG00639.hp1 HG00733.hp2 others(27): Show HG00621.hp1 HG00639.hp1 HG00733.hp2 HG00735.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01175.hp2 HG01978.hp2 HG01981.hp1 HG02109.hp2 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03486.hp2 HG03516.hp1 HG03654.hp1 HG03704.hp1 NA19077.hp2 NA20752.hp1 NA21309.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0012 a0002c0002t0001g0024 a0002c0002t0001g0030 others(24): Show a0002c0002t0001g0012 a0002c0002t0001g0024 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0167 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0205 a0003c0003t0001g0166	30	280	0.1071	c.644 others(3): Show c.644C>T	p.Ser others(6): Show p.Ser215Leu	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	6/8	760/1130	644/771	215/256	chrX	TogoVar
ARL13A_chrX_100964708_100995831	100990575	C C	T T	missense_variant missense_variant	MODERATE	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0166 a0003c0003t0001g0166	1	280	0.0036	c.758 others(3): Show c.758C>T	p.Ser others(6): Show p.Ser253Phe	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	8/8	874/1130	758/771	253/256	chrX	TogoVar
ARL13B_chr3_93975155_94060678	94003854	A A	G G	missense_variant missense_variant	MODERATE	NA19070.hp2 NA19070.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0008 a0008c0011t0008	a0008c0011t0008g0205 a0008c0011t0008g0205	1	264	0.0038	c.326 others(3): Show c.326A>G	p.Glu others(6): Show p.Glu109Gly	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	3/10	595/3971	326/1287	109/428	chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043057	G G	A A	missense_variant missense_variant	MODERATE	NA19056.hp1 NA19056.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0028 a0007c0007t0001g0028	1	264	0.0038	c.841 others(3): Show c.841G>A	p.Glu others(6): Show p.Glu281Lys	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/10	1110/3971	841/1287	281/428	chr3	TogoVar
ARL13B_chr3_93975155_94060678	94049424	C C	G G	missense_variant missense_variant	MODERATE	HG00558.hp2 HG00621.hp1 HG01256.hp1 others(22): Show HG00558.hp2 HG00621.hp1 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01496.hp1 HG02071.hp1 HG02145.hp2 HG02165.hp1 HG02683.hp1 HG02738.hp2 HG03654.hp1 HG03834.hp2 HG03927.hp2 NA18973.hp2 NA18978.hp1 NA18982.hp2 NA18983.hp1 NA18988.hp2 NA18994.hp1 NA19009.hp2 NA19010.hp2 NA19056.hp1 NA20752.hp2 NA20805.hp1	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0002 a0002c0005 a0003c0006 others(1): Show a0002c0002 a0002c0005 a0003c0006 a0007c0007	a0002c0002t0001 a0002c0002t0007 a0002c0005t0001 others(2): Show a0002c0002t0001 a0002c0002t0007 a0002c0005t0001 a0003c0006t0001 a0007c0007t0001	a0002c0002t0001g0008 a0002c0002t0001g0017 a0002c0002t0001g0022 others(22): Show a0002c0002t0001g0008 a0002c0002t0001g0017 a0002c0002t0001g0022 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0107 a0002c0002t0001g0125 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0133 a0002c0002t0001g0135 a0002c0002t0001g0263 a0002c0002t0007g0134 a0002c0005t0001g0023 a0003c0006t0001g0006 a0007c0007t0001g0028	25	264	0.0947	c.104 others(4): Show c.1043C>G	p.Thr others(6): Show p.Thr348Ser	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	8/10	1312/3971	1043/1287	348/428	chr3	TogoVar
ARL13B_chr3_93975155_94060678	94049471	A A	G G	missense_variant missense_variant	MODERATE	NA18995.hp1 NA18995.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0054 a0006c0010t0001g0054	1	264	0.0038	c.109 others(4): Show c.1090A>G	p.Ile others(6): Show p.Ile364Val	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	8/10	1359/3971	1090/1287	364/428	chr3	TogoVar
ARL13B_chr3_93975155_94060678	94049517	C C	T T	missense_variant missense_variant	MODERATE	NA20300.hp1 NA20300.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0036 a0004c0009t0001g0036	1	264	0.0038	c.113 others(4): Show c.1136C>T	p.Pro others(6): Show p.Pro379Leu	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	8/10	1405/3971	1136/1287	379/428	chr3	TogoVar
ARL13B_chr3_93975155_94060678	94050868	C C	G G	missense_variant missense_variant	MODERATE	HG03491.hp1 HG03491.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0012 a0005c0008t0012	a0005c0008t0012g0136 a0005c0008t0012g0136	1	264	0.0038	c.118 others(4): Show c.1186C>G	p.Pro others(6): Show p.Pro396Ala	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	9/10	1455/3971	1186/1287	396/428	chr3	TogoVar
ARL14EPL_chr5_116027472_116064489	116058794	G G	C C	missense_variant missense_variant	MODERATE	HG01074.hp2 HG01074.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0335 a0003c0005t0001g0335	1	462	0.0022	c.306 others(3): Show c.306G>C	p.Glu others(6): Show p.Glu102Asp	ARL14EPL	ENSG00000268223.7	transcript	ENST00000686077.1	protein_coding	4/4	349/1044	306/459	102/152	chr5	TogoVar
ARL14EPL_chr5_116027472_116064489	116058873	C C	T T	missense_variant missense_variant	MODERATE	HG01361.hp1 HG01361.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0239 a0004c0006t0002g0239	1	462	0.0022	c.385 others(3): Show c.385C>T	p.Arg others(6): Show p.Arg129Trp	ARL14EPL	ENSG00000268223.7	transcript	ENST00000686077.1	protein_coding	4/4	428/1044	385/459	129/152	chr5	TogoVar
ARL14EPL_chr5_116027472_116064489	116058907	G G	A A	missense_variant missense_variant	MODERATE	NA18612.hp1 NA19060.hp1 NA18612.hp1 NA19060.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0006 a0002c0004t0001g0006	2	462	0.0043	c.419 others(3): Show c.419G>A	p.Gly others(6): Show p.Gly140Glu	ARL14EPL	ENSG00000268223.7	transcript	ENST00000686077.1	protein_coding	4/4	462/1044	419/459	140/152	chr5	TogoVar
ARL14EP_chr11_30318104_30343223	30332977	A A	C C	missense_variant missense_variant	MODERATE	HG01891.hp2 HG02559.hp2 HG02615.hp1 others(2): Show HG01891.hp2 HG02559.hp2 HG02615.hp1 HG02896.hp2 HG02897.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0127 a0002c0002t0002g0006 a0002c0002t0002g0127	5	400	0.0125	c.538 others(3): Show c.538A>C	p.Thr others(6): Show p.Thr180Pro	ARL14EP	ENSG00000152219.5	transcript	ENST00000282032.4	protein_coding	3/4	700/2373	538/783	180/260	chr11	TogoVar
ARL14_chr3_160672160_160683448	160677491	G G	A A	missense_variant missense_variant	MODERATE	NA18942.hp2 NA18942.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0000 a0003c0006t0001g0000	1	434	0.0023	c.145 others(3): Show c.145G>A	p.Val others(5): Show p.Val49Met	ARL14	ENSG00000179674.4	transcript	ENST00000320767.4	protein_coding	1/1	332/1289	145/579	49/192	chr3	TogoVar
ARL14_chr3_160672160_160683448	160677593	G G	A A	missense_variant missense_variant	MODERATE	HG02818.hp2 HG02818.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0000 a0005c0007t0002g0000	1	434	0.0023	c.247 others(3): Show c.247G>A	p.Asp others(5): Show p.Asp83Asn	ARL14	ENSG00000179674.4	transcript	ENST00000320767.4	protein_coding	1/1	434/1289	247/579	83/192	chr3	TogoVar
ARL14_chr3_160672160_160683448	160677695	C C	A A	missense_variant missense_variant	MODERATE	HG02258.hp1 HG02258.hp2 HG02622.hp2 others(8): Show HG02258.hp1 HG02258.hp2 HG02622.hp2 HG02647.hp1 HG02717.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG06807.hp1 NA18522.hp1 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	11	434	0.0254	c.349 others(3): Show c.349C>A	p.Pro others(6): Show p.Pro117Thr	ARL14	ENSG00000179674.4	transcript	ENST00000320767.4	protein_coding	1/1	536/1289	349/579	117/192	chr3	TogoVar
ARL14_chr3_160672160_160683448	160677809	C C	T T	missense_variant missense_variant	MODERATE	NA19003.hp2 NA19003.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0000 a0004c0008t0001g0000	1	434	0.0023	c.463 others(3): Show c.463C>T	p.Pro others(6): Show p.Pro155Ser	ARL14	ENSG00000179674.4	transcript	ENST00000320767.4	protein_coding	1/1	650/1289	463/579	155/192	chr3	TogoVar
ARL16_chr17_81676187_81688797	81683707	A A	G G	missense_variant missense_variant	MODERATE	NA18944.hp1 NA18967.hp1 NA18944.hp1 NA18967.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0009	2	444	0.0045	c.47T others(2): Show c.47T>C	p.Val others(5): Show p.Val16Ala	ARL16	ENSG00000214087.9	transcript	ENST00000622299.5	protein_coding	1/5	91/1087	47/522	16/173	chr17	TogoVar
ARL17A_chr17_46547756_46584691	46557499	A A	G G	missense_variant missense_variant	MODERATE	HG02698.hp2 HG02698.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0090 a0004c0005t0001g0090	1	146	0.0069	c.391 others(3): Show c.391T>C	p.Cys others(6): Show p.Cys131Arg	ARL17A	ENSG00000185829.19	transcript	ENST00000336125.6	protein_coding	4/4	499/5242	391/534	131/177	chr17	TogoVar
ARL17A_chr17_46547756_46584691	46570827	G G	C C	missense_variant missense_variant	MODERATE	HG00741.hp1 HG01167.hp2 HG01433.hp1 others(5): Show HG00741.hp1 HG01167.hp2 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01981.hp2 HG02257.hp2 HG02602.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0035 a0002c0003t0005 a0002c0003t0035	a0002c0003t0005g0009 a0002c0003t0005g0069 a0002c0003t0005g0070 others(4): Show a0002c0003t0005g0009 a0002c0003t0005g0069 a0002c0003t0005g0070 a0002c0003t0005g0071 a0002c0003t0005g0102 a0002c0003t0005g0103 a0002c0003t0035g0068	8	146	0.0548	c.191 others(3): Show c.191C>G	p.Ala others(5): Show p.Ala64Gly	ARL17A	ENSG00000185829.19	transcript	ENST00000336125.6	protein_coding	3/4	299/5242	191/534	64/177	chr17	TogoVar
ARL1_chr12_101388116_101412772	101407642	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19072.hp1 NA19072.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0135 a0002c0002t0017g0135	1	398	0.0025	c.4G> others(1): Show c.4G>C	p.Gly others(4): Show p.Gly2Arg	ARL1	ENSG00000120805.14	transcript	ENST00000261636.13	protein_coding	1/6	131/3197	4/546	2/181	chr12	TogoVar
ARL2BP_chr16_57240259_57258635	57249818	G G	A A	missense_variant missense_variant	MODERATE	HG00735.hp1 HG01243.hp2 HG01358.hp2 HG00735.hp1 HG01243.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	3	372	0.0081	c.259 others(3): Show c.259G>A	p.Glu others(5): Show p.Glu87Lys	ARL2BP	ENSG00000102931.8	transcript	ENST00000219204.8	protein_coding	4/6	368/1969	259/492	87/163	chr16	TogoVar
ARL2_chr11_65009160_65027184	65020463	C C	A A	missense_variant missense_variant	MODERATE	NA19043.hp2 NA19043.hp2	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0001 a0005c0003t0001	a0005c0003t0001g0070 a0005c0003t0001g0070	1	340	0.0029	c.384 others(3): Show c.384C>A	p.Asp others(6): Show p.Asp128Glu	ARL2	ENSG00000213465.8	transcript	ENST00000246747.9	protein_coding	4/5	432/932	384/555	128/184	chr11	TogoVar
ARL2_chr11_65009160_65027184	65020494	C C	T T	missense_variant missense_variant	MODERATE	HG03225.hp1 NA19011.hp1 HG03225.hp1 NA19011.hp1	a0003 a0004 a0003 a0004	a0003c0005 a0004c0006 a0003c0005 a0004c0006	a0003c0005t0001 a0004c0006t0001 a0003c0005t0001 a0004c0006t0001	a0003c0005t0001g0032 a0004c0006t0001g0001 a0003c0005t0001g0032 a0004c0006t0001g0001	2	340	0.0059	c.415 others(3): Show c.415C>T	p.Arg others(6): Show p.Arg139Cys	ARL2	ENSG00000213465.8	transcript	ENST00000246747.9	protein_coding	4/5	463/932	415/555	139/184	chr11	TogoVar
ARL2_chr11_65009160_65027184	65021722	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(150): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00558.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG02004.hp2 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03688.hp1 HG03927.hp1 HG04199.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18944.hp1 NA18946.hp2 NA18954.hp2 NA18960.hp1 NA18966.hp1 NA18971.hp2 NA18981.hp1 NA18982.hp2 NA18993.hp1 NA18994.hp2 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19060.hp2 NA19062.hp2 NA19066.hp1 NA19074.hp2 NA19079.hp2 NA19081.hp2 NA19087.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0002 a0003c0005 a0005c0003 a0002c0002 a0003c0005 a0005c0003	a0002c0002t0001 a0002c0002t0002 a0003c0005t0001 others(1): Show a0002c0002t0001 a0002c0002t0002 a0003c0005t0001 a0005c0003t0001	a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0006 others(42): Show a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0018 a0002c0002t0001g0020 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0031 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0047 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0067 a0002c0002t0001g0069 a0002c0002t0001g0071 a0002c0002t0002g0005 a0003c0005t0001g0032 a0005c0003t0001g0070	153	340	0.4500	c.422 others(3): Show c.422T>C	p.Val others(6): Show p.Val141Ala	ARL2	ENSG00000213465.8	transcript	ENST00000246747.9	protein_coding	5/5	470/932	422/555	141/184	chr11	TogoVar
ARL5C_chr17_39151894_39171161	39156923	A A	G G	missense_variant missense_variant	MODERATE	HG00609.hp1 HG02165.hp2 HG00609.hp1 HG02165.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0002 a0008c0009t0002	a0008c0009t0002g0242 a0008c0009t0002g0259 a0008c0009t0002g0242 a0008c0009t0002g0259	2	410	0.0049	c.511 others(3): Show c.511T>C	p.Trp others(6): Show p.Trp171Arg	ARL5C	ENSG00000141748.13	transcript	ENST00000269586.12	protein_coding	6/6	912/941	511/540	171/179	chr17	TogoVar

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