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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
ATL1_chr14_50555145_50638045	50613321	T T	C C	synonymous_variant synonymous_variant	LOW	HG02647.hp2 HG03130.hp1 HG03579.hp2 HG02647.hp2 HG03130.hp1 HG03579.hp2	a0001 a0001	a0001c0006 a0001c0009 a0001c0006 a0001c0009	a0001c0006t0001 a0001c0009t0001 a0001c0006t0001 a0001c0009t0001	a0001c0006t0001g0022 a0001c0006t0001g0023 a0001c0009t0001g0085 a0001c0006t0001g0022 a0001c0006t0001g0023 a0001c0009t0001g0085	3	320	0.0094	c.693 others(3): Show c.693T>C	p.Gly others(6): Show p.Gly231Gly	ATL1	ENSG00000198513.14	transcript	ENST00000358385.12	protein_coding	7/14	814/2504	693/1677	231/558	chr14	TogoVar
ATL1_chr14_50555145_50638045	50613333	C C	T T	synonymous_variant synonymous_variant	LOW	HG02055.hp1 HG02258.hp1 HG02572.hp2 others(10): Show HG02055.hp1 HG02258.hp1 HG02572.hp2 HG02647.hp2 HG02896.hp2 HG02897.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp1 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0009 a0001c0004 a0001c0006 a0001c0009	a0001c0004t0001 a0001c0004t0004 a0001c0006t0001 others(1): Show a0001c0004t0001 a0001c0004t0004 a0001c0006t0001 a0001c0009t0001	a0001c0004t0001g0024 a0001c0004t0001g0025 a0001c0004t0001g0026 others(10): Show a0001c0004t0001g0024 a0001c0004t0001g0025 a0001c0004t0001g0026 a0001c0004t0001g0027 a0001c0004t0001g0028 a0001c0004t0001g0029 a0001c0004t0001g0030 a0001c0004t0001g0031 a0001c0004t0001g0052 a0001c0004t0004g0142 a0001c0006t0001g0022 a0001c0006t0001g0023 a0001c0009t0001g0085	13	320	0.0406	c.705 others(3): Show c.705C>T	p.Phe others(6): Show p.Phe235Phe	ATL1	ENSG00000198513.14	transcript	ENST00000358385.12	protein_coding	7/14	826/2504	705/1677	235/558	chr14	TogoVar
ATL1_chr14_50555145_50638045	50628111	G G	A A	synonymous_variant synonymous_variant	LOW	HG02647.hp2 HG03130.hp1 HG02647.hp2 HG03130.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0022 a0001c0006t0001g0023 a0001c0006t0001g0022 a0001c0006t0001g0023	2	320	0.0063	c.120 others(4): Show c.1200G>A	p.Lys others(6): Show p.Lys400Lys	ATL1	ENSG00000198513.14	transcript	ENST00000358385.12	protein_coding	12/14	1321/2504	1200/1677	400/558	chr14	TogoVar
ATL1_chr14_50555145_50638045	50628141	G G	A A	synonymous_variant synonymous_variant	LOW	HG02809.hp1 HG03486.hp2 HG02809.hp1 HG03486.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0068 a0001c0007t0001g0234 a0001c0007t0001g0068 a0001c0007t0001g0234	2	320	0.0063	c.123 others(4): Show c.1230G>A	p.Gly others(6): Show p.Gly410Gly	ATL1	ENSG00000198513.14	transcript	ENST00000358385.12	protein_coding	12/14	1351/2504	1230/1677	410/558	chr14	TogoVar
ATL1_chr14_50555145_50638045	50628222	T T	C C	synonymous_variant synonymous_variant	LOW	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0116 a0001c0010t0001g0116	1	320	0.0031	c.131 others(4): Show c.1311T>C	p.Asp others(6): Show p.Asp437Asp	ATL1	ENSG00000198513.14	transcript	ENST00000358385.12	protein_coding	12/14	1432/2504	1311/1677	437/558	chr14	TogoVar
ATL1_chr14_50555145_50638045	50628369	C C	T T	synonymous_variant synonymous_variant	LOW	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0114 a0001c0011t0001g0114	1	320	0.0031	c.145 others(4): Show c.1458C>T	p.Ile others(6): Show p.Ile486Ile	ATL1	ENSG00000198513.14	transcript	ENST00000358385.12	protein_coding	12/14	1579/2504	1458/1677	486/558	chr14	TogoVar
ATL2_chr2_38288954_38382273	38300305	T T	A A	synonymous_variant synonymous_variant	LOW	HG00738.hp2 HG02109.hp1 HG02145.hp1 others(4): Show HG00738.hp2 HG02109.hp1 HG02145.hp1 HG02486.hp1 HG02922.hp1 NA18906.hp1 NA18906.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0003 a0003c0005t0008 others(1): Show a0003c0005t0001 a0003c0005t0003 a0003c0005t0008 a0003c0005t0028	a0003c0005t0001g0046 a0003c0005t0001g0047 a0003c0005t0001g0048 others(4): Show a0003c0005t0001g0046 a0003c0005t0001g0047 a0003c0005t0001g0048 a0003c0005t0003g0027 a0003c0005t0003g0028 a0003c0005t0008g0045 a0003c0005t0028g0006	7	236	0.0297	c.109 others(4): Show c.1095A>T	p.Gly others(6): Show p.Gly365Gly	ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	10/13	1108/3805	1095/1752	365/583	chr2	TogoVar
ATL2_chr2_38288954_38382273	38309484	T T	G G	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(95): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00423.hp1 HG00642.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01175.hp2 HG01243.hp2 HG01258.hp2 HG01891.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp1 HG04228.hp1 NA18939.hp1 NA18939.hp2 NA18943.hp2 NA18950.hp1 NA18953.hp2 NA18955.hp1 NA18978.hp1 NA18981.hp2 NA18984.hp2 NA18995.hp2 NA18998.hp2 NA19003.hp2 NA19011.hp1 NA19030.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19067.hp1 NA19068.hp1 NA19078.hp1 NA19084.hp2 NA19086.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0007	a0001c0001 a0002c0006 a0004c0008 others(2): Show a0001c0001 a0002c0006 a0004c0008 a0006c0011 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0018 a0001c0001t0031 a0001c0001t0035 a0001c0001t0037 a0002c0006t0001 a0002c0006t0004 a0002c0006t0009 a0002c0006t0030 a0004c0008t0002 a0006c0011t0002 a0007c0010t0002	a0001c0001t0001g0079 a0001c0001t0001g0094 a0001c0001t0002g0050 others(95): Show a0001c0001t0001g0079 a0001c0001t0001g0094 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0004g0051 a0001c0001t0004g0058 a0001c0001t0004g0060 a0001c0001t0004g0063 a0001c0001t0004g0064 a0001c0001t0004g0077 a0001c0001t0004g0087 a0001c0001t0004g0091 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0105 a0001c0001t0004g0109 a0001c0001t0004g0119 a0001c0001t0004g0120 a0001c0001t0006g0134 a0001c0001t0006g0135 a0001c0001t0006g0137 a0001c0001t0006g0138 a0001c0001t0006g0139 a0001c0001t0006g0140 a0001c0001t0006g0141 a0001c0001t0006g0142 a0001c0001t0006g0143 a0001c0001t0006g0144 a0001c0001t0006g0146 a0001c0001t0009g0075 a0001c0001t0009g0089 a0001c0001t0009g0097 a0001c0001t0010g0082 a0001c0001t0010g0100 a0001c0001t0010g0115 a0001c0001t0011g0070 a0001c0001t0011g0071 a0001c0001t0011g0098 a0001c0001t0012g0133 a0001c0001t0012g0136 a0001c0001t0012g0145 a0001c0001t0018g0099 a0001c0001t0031g0055 a0001c0001t0035g0090 a0001c0001t0037g0132 a0002c0006t0001g0174 a0002c0006t0004g0168 a0002c0006t0004g0170 a0002c0006t0009g0157 a0002c0006t0030g0204 a0004c0008t0002g0025 a0006c0011t0002g0069 a0007c0010t0002g0096	98	236	0.4153	c.966 others(3): Show c.966A>C	p.Arg others(6): Show p.Arg322Arg	ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	9/13	979/3805	966/1752	322/583	chr2	TogoVar
ATL3_chr11_63619087_63676376	63629346	T T	C C	synonymous_variant synonymous_variant	LOW	HG02602.hp1 HG02738.hp2 HG02602.hp1 HG02738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0109 a0001c0003t0001g0195 a0001c0003t0001g0109 a0001c0003t0001g0195	2	242	0.0083	c.159 others(4): Show c.1599A>G	p.Arg others(6): Show p.Arg533Arg	ATL3	ENSG00000184743.13	transcript	ENST00000398868.8	protein_coding	13/13	1640/6899	1599/1626	533/541	chr11	TogoVar
ATL3_chr11_63619087_63676376	63631205	T T	C C	synonymous_variant synonymous_variant	LOW	HG01496.hp2 HG02258.hp2 HG02723.hp2 others(1): Show HG01496.hp2 HG02258.hp2 HG02723.hp2 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0005 a0001c0002t0010g0016 a0001c0002t0010g0017 a0001c0002t0010g0005 a0001c0002t0010g0016 a0001c0002t0010g0017	4	242	0.0165	c.137 others(4): Show c.1374A>G	p.Ser others(6): Show p.Ser458Ser	ATL3	ENSG00000184743.13	transcript	ENST00000398868.8	protein_coding	12/13	1415/6899	1374/1626	458/541	chr11	TogoVar
ATMIN_chr16_81030842_81052350	81035996	C C	T T	synonymous_variant synonymous_variant	LOW	HG01884.hp2 HG02055.hp1 HG02559.hp1 others(7): Show HG01884.hp2 HG02055.hp1 HG02559.hp1 HG02886.hp2 HG02896.hp1 HG02970.hp2 HG03098.hp1 HG03486.hp1 HG03516.hp1 NA18522.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0032 a0001c0007t0007 a0001c0007t0032	a0001c0007t0007g0005 a0001c0007t0032g0026 a0001c0007t0032g0034 a0001c0007t0007g0005 a0001c0007t0032g0026 a0001c0007t0032g0034	10	392	0.0255	c.126 others(3): Show c.126C>T	p.Pro others(5): Show p.Pro42Pro	ATMIN	ENSG00000166454.10	transcript	ENST00000299575.5	protein_coding	1/4	155/4881	126/2472	42/823	chr16	TogoVar
ATMIN_chr16_81030842_81052350	81036056	G G	A A	synonymous_variant synonymous_variant	LOW	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0001 a0001c0013t0001g0001	1	392	0.0026	c.186 others(3): Show c.186G>A	p.Ala others(5): Show p.Ala62Ala	ATMIN	ENSG00000166454.10	transcript	ENST00000299575.5	protein_coding	1/4	215/4881	186/2472	62/823	chr16	TogoVar
ATMIN_chr16_81030842_81052350	81036086	G G	C C	synonymous_variant synonymous_variant	LOW	HG01175.hp2 HG04228.hp1 NA18979.hp1 others(1): Show HG01175.hp2 HG04228.hp1 NA18979.hp1 NA20300.hp2	a0001 a0001	a0001c0011 a0001c0014 a0001c0011 a0001c0014	a0001c0011t0016 a0001c0014t0001 a0001c0011t0016 a0001c0014t0001	a0001c0011t0016g0010 a0001c0011t0016g0023 a0001c0014t0001g0010 a0001c0011t0016g0010 a0001c0011t0016g0023 a0001c0014t0001g0010	4	392	0.0102	c.216 others(3): Show c.216G>C	p.Ser others(5): Show p.Ser72Ser	ATMIN	ENSG00000166454.10	transcript	ENST00000299575.5	protein_coding	1/4	245/4881	216/2472	72/823	chr16	TogoVar
ATMIN_chr16_81030842_81052350	81043539	A A	G G	synonymous_variant synonymous_variant	LOW	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0016 a0001c0021t0016	a0001c0021t0016g0040 a0001c0021t0016g0040	1	392	0.0026	c.104 others(4): Show c.1041A>G	p.Ser others(6): Show p.Ser347Ser	ATMIN	ENSG00000166454.10	transcript	ENST00000299575.5	protein_coding	4/4	1070/4881	1041/2472	347/823	chr16	TogoVar
ATMIN_chr16_81030842_81052350	81043599	T T	A A	synonymous_variant synonymous_variant	LOW	HG00323.hp1 HG00735.hp1 HG01070.hp1 others(17): Show HG00323.hp1 HG00735.hp1 HG01070.hp1 HG01081.hp2 HG01175.hp1 HG01346.hp2 HG02109.hp1 HG02109.hp2 HG02258.hp1 HG02572.hp2 HG02615.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03139.hp2 HG03471.hp2 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0001c0017 a0002c0006 others(1): Show a0001c0009 a0001c0017 a0002c0006 a0002c0015	a0001c0009t0005 a0001c0017t0005 a0002c0006t0002 others(4): Show a0001c0009t0005 a0001c0017t0005 a0002c0006t0002 a0002c0006t0009 a0002c0006t0018 a0002c0006t0025 a0002c0015t0036	a0001c0009t0005g0001 a0001c0009t0005g0011 a0001c0009t0005g0012 others(7): Show a0001c0009t0005g0001 a0001c0009t0005g0011 a0001c0009t0005g0012 a0001c0009t0005g0039 a0001c0017t0005g0012 a0002c0006t0002g0004 a0002c0006t0009g0004 a0002c0006t0018g0004 a0002c0006t0025g0004 a0002c0015t0036g0051	20	392	0.0510	c.110 others(4): Show c.1101T>A	p.Pro others(6): Show p.Pro367Pro	ATMIN	ENSG00000166454.10	transcript	ENST00000299575.5	protein_coding	4/4	1130/4881	1101/2472	367/823	chr16	TogoVar
ATMIN_chr16_81030842_81052350	81043704	G G	A A	synonymous_variant synonymous_variant	LOW	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0005 a0001c0017t0005	a0001c0017t0005g0012 a0001c0017t0005g0012	1	392	0.0026	c.120 others(4): Show c.1206G>A	p.Thr others(6): Show p.Thr402Thr	ATMIN	ENSG00000166454.10	transcript	ENST00000299575.5	protein_coding	4/4	1235/4881	1206/2472	402/823	chr16	TogoVar
ATMIN_chr16_81030842_81052350	81043779	T T	C C	synonymous_variant synonymous_variant	LOW	HG00408.hp1 HG00558.hp1 HG01168.hp2 others(20): Show HG00408.hp1 HG00558.hp1 HG01168.hp2 HG02074.hp2 HG02572.hp1 HG02717.hp2 HG03453.hp1 NA18945.hp1 NA18950.hp1 NA18960.hp2 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18993.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19070.hp2 NA19079.hp1 NA19080.hp2	a0003 a0005 a0009 a0003 a0005 a0009	a0003c0004 a0003c0022 a0005c0008 others(1): Show a0003c0004 a0003c0022 a0005c0008 a0009c0023	a0003c0004t0010 a0003c0004t0014 a0003c0004t0026 others(8): Show a0003c0004t0010 a0003c0004t0014 a0003c0004t0026 a0003c0004t0028 a0003c0022t0014 a0005c0008t0019 a0005c0008t0027 a0005c0008t0029 a0005c0008t0043 a0005c0008t0045 a0009c0023t0044	a0003c0004t0010g0003 a0003c0004t0010g0024 a0003c0004t0014g0003 others(11): Show a0003c0004t0010g0003 a0003c0004t0010g0024 a0003c0004t0014g0003 a0003c0004t0026g0003 a0003c0004t0028g0003 a0003c0004t0028g0029 a0003c0022t0014g0003 a0005c0008t0019g0003 a0005c0008t0027g0003 a0005c0008t0029g0016 a0005c0008t0029g0028 a0005c0008t0043g0016 a0005c0008t0045g0003 a0009c0023t0044g0054	23	392	0.0587	c.128 others(4): Show c.1281T>C	p.Ser others(6): Show p.Ser427Ser	ATMIN	ENSG00000166454.10	transcript	ENST00000299575.5	protein_coding	4/4	1310/4881	1281/2472	427/823	chr16	TogoVar
ATMIN_chr16_81030842_81052350	81043905	T T	G G	synonymous_variant synonymous_variant	LOW	HG00408.hp1 HG00408.hp1	a0003 a0003	a0003c0022 a0003c0022	a0003c0022t0014 a0003c0022t0014	a0003c0022t0014g0003 a0003c0022t0014g0003	1	392	0.0026	c.140 others(4): Show c.1407T>G	p.Thr others(6): Show p.Thr469Thr	ATMIN	ENSG00000166454.10	transcript	ENST00000299575.5	protein_coding	4/4	1436/4881	1407/2472	469/823	chr16	TogoVar
ATMIN_chr16_81030842_81052350	81044268	A A	G G	synonymous_variant synonymous_variant	LOW	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0001 a0001c0020t0001g0001	1	392	0.0026	c.177 others(4): Show c.1770A>G	p.Leu others(6): Show p.Leu590Leu	ATMIN	ENSG00000166454.10	transcript	ENST00000299575.5	protein_coding	4/4	1799/4881	1770/2472	590/823	chr16	TogoVar
ATMIN_chr16_81030842_81052350	81044310	T T	C C	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(245): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 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 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03225.hp2 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(5): Show a0001 a0002 a0006 a0007 a0010 a0011 a0012 a0013	a0001c0001 a0001c0013 a0001c0014 others(8): Show a0001c0001 a0001c0013 a0001c0014 a0001c0020 a0002c0015 a0006c0010 a0007c0012 a0010c0018 a0011c0019 a0012c0024 a0013c0025	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(27): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0021 a0001c0001t0022 a0001c0001t0030 a0001c0001t0031 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0055 a0001c0013t0001 a0001c0014t0001 a0001c0020t0001 a0002c0015t0036 a0006c0010t0003 a0006c0010t0006 a0007c0012t0001 a0010c0018t0011 a0011c0019t0001 a0012c0024t0001 a0013c0025t0004	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0014 others(53): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0038 a0001c0001t0003g0045 a0001c0001t0003g0049 a0001c0001t0003g0056 a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0004g0014 a0001c0001t0004g0020 a0001c0001t0004g0022 a0001c0001t0004g0047 a0001c0001t0004g0055 a0001c0001t0006g0001 a0001c0001t0006g0002 a0001c0001t0006g0013 a0001c0001t0006g0021 a0001c0001t0006g0041 a0001c0001t0011g0001 a0001c0001t0012g0001 a0001c0001t0015g0001 a0001c0001t0021g0001 a0001c0001t0022g0001 a0001c0001t0030g0001 a0001c0001t0031g0001 a0001c0001t0046g0001 a0001c0001t0047g0001 a0001c0001t0048g0001 a0001c0001t0049g0002 a0001c0001t0050g0001 a0001c0001t0051g0001 a0001c0001t0052g0001 a0001c0001t0055g0001 a0001c0013t0001g0001 a0001c0014t0001g0010 a0001c0020t0001g0001 a0002c0015t0036g0051 a0006c0010t0003g0001 a0006c0010t0006g0001 a0007c0012t0001g0001 a0010c0018t0011g0059 a0011c0019t0001g0042 a0012c0024t0001g0001 a0013c0025t0004g0001	248	392	0.6327	c.181 others(4): Show c.1812T>C	p.Ala others(6): Show p.Ala604Ala	ATMIN	ENSG00000166454.10	transcript	ENST00000299575.5	protein_coding	4/4	1841/4881	1812/2472	604/823	chr16	TogoVar
ATMIN_chr16_81030842_81052350	81044553	C C	A A	synonymous_variant synonymous_variant	LOW	HG01109.hp2 HG02257.hp1 HG02523.hp1 others(9): Show HG01109.hp2 HG02257.hp1 HG02523.hp1 HG02976.hp1 NA18906.hp1 NA18948.hp1 NA18949.hp1 NA18965.hp1 NA18977.hp1 NA18987.hp1 NA19091.hp1 NA20129.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0008 a0004c0005t0005 a0004c0005t0008	a0004c0005t0005g0006 a0004c0005t0005g0007 a0004c0005t0008g0006 others(1): Show a0004c0005t0005g0006 a0004c0005t0005g0007 a0004c0005t0008g0006 a0004c0005t0008g0007	12	392	0.0306	c.205 others(4): Show c.2055C>A	p.Ser others(6): Show p.Ser685Ser	ATMIN	ENSG00000166454.10	transcript	ENST00000299575.5	protein_coding	4/4	2084/4881	2055/2472	685/823	chr16	TogoVar
ATM_chr11_108218067_108374102	108244065	C C	T T	synonymous_variant synonymous_variant	LOW	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0002 a0001c0034t0002	a0001c0034t0002g0055 a0001c0034t0002g0055	1	304	0.0033	c.609 others(3): Show c.609C>T	p.Asp others(6): Show p.Asp203Asp	ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	6/63	759/12915	609/9171	203/3056	chr11	TogoVar
ATM_chr11_108218067_108374102	108244113	T T	C C	synonymous_variant synonymous_variant	LOW	HG01070.hp1 HG01081.hp2 HG01243.hp1 others(13): Show HG01070.hp1 HG01081.hp2 HG01243.hp1 HG02109.hp2 HG02145.hp1 HG02280.hp2 HG02559.hp2 HG02647.hp2 HG02723.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03225.hp2 HG03516.hp1 NA18522.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0085 a0002c0002t0003g0086 a0002c0002t0003g0136 others(13): Show a0002c0002t0003g0085 a0002c0002t0003g0086 a0002c0002t0003g0136 a0002c0002t0003g0137 a0002c0002t0003g0138 a0002c0002t0003g0139 a0002c0002t0003g0140 a0002c0002t0003g0141 a0002c0002t0003g0142 a0002c0002t0003g0143 a0002c0002t0003g0144 a0002c0002t0003g0145 a0002c0002t0003g0146 a0002c0002t0003g0147 a0002c0002t0003g0148 a0002c0002t0003g0149	16	304	0.0526	c.657 others(3): Show c.657T>C	p.Cys others(6): Show p.Cys219Cys	ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	6/63	807/12915	657/9171	219/3056	chr11	TogoVar
ATM_chr11_108218067_108374102	108244860	C C	T T	synonymous_variant synonymous_variant	LOW	HG00323.hp2 HG00642.hp1 HG00323.hp2 HG00642.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0014 a0001c0016t0002g0015 a0001c0016t0002g0014 a0001c0016t0002g0015	2	304	0.0066	c.735 others(3): Show c.735C>T	p.Val others(6): Show p.Val245Val	ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	7/63	885/12915	735/9171	245/3056	chr11	TogoVar
ATM_chr11_108218067_108374102	108249043	C C	G G	synonymous_variant synonymous_variant	LOW	HG02055.hp1 HG02055.hp2 HG02647.hp1 others(6): Show HG02055.hp1 HG02055.hp2 HG02647.hp1 HG02896.hp2 HG02897.hp1 HG03195.hp1 HG03225.hp1 HG03486.hp2 NA19030.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0008 a0002c0005t0015 a0002c0005t0003 a0002c0005t0008 a0002c0005t0015	a0002c0005t0003g0096 a0002c0005t0008g0095 a0002c0005t0008g0097 others(6): Show a0002c0005t0003g0096 a0002c0005t0008g0095 a0002c0005t0008g0097 a0002c0005t0008g0098 a0002c0005t0008g0102 a0002c0005t0008g0103 a0002c0005t0015g0099 a0002c0005t0015g0100 a0002c0005t0015g0101	9	304	0.0296	c.117 others(4): Show c.1176C>G	p.Gly others(6): Show p.Gly392Gly	ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	9/63	1326/12915	1176/9171	392/3056	chr11	TogoVar
ATM_chr11_108218067_108374102	108250719	A A	G G	synonymous_variant synonymous_variant	LOW	HG02572.hp1 HG03098.hp2 HG03139.hp1 others(3): Show HG02572.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0016 a0001c0008t0002 a0001c0008t0016	a0001c0008t0002g0041 a0001c0008t0002g0042 a0001c0008t0002g0043 others(3): Show a0001c0008t0002g0041 a0001c0008t0002g0042 a0001c0008t0002g0043 a0001c0008t0002g0044 a0001c0008t0016g0115 a0001c0008t0016g0116	6	304	0.0197	c.125 others(4): Show c.1254A>G	p.Gln others(6): Show p.Gln418Gln	ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	10/63	1404/12915	1254/9171	418/3056	chr11	TogoVar
ATM_chr11_108218067_108374102	108256217	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0273 a0001c0020t0001g0273	1	304	0.0033	c.212 others(4): Show c.2127T>C	p.Ile others(6): Show p.Ile709Ile	ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	14/63	2277/12915	2127/9171	709/3056	chr11	TogoVar
ATM_chr11_108218067_108374102	108256283	C C	T T	synonymous_variant synonymous_variant	LOW	HG01175.hp1 HG02257.hp2 HG02922.hp1 others(1): Show HG01175.hp1 HG02257.hp2 HG02922.hp1 HG03453.hp2	a0009 a0023 a0009 a0023	a0009c0013 a0023c0033 a0009c0013 a0023c0033	a0009c0013t0012 a0023c0033t0012 a0009c0013t0012 a0023c0033t0012	a0009c0013t0012g0117 a0009c0013t0012g0119 a0009c0013t0012g0120 others(1): Show a0009c0013t0012g0117 a0009c0013t0012g0119 a0009c0013t0012g0120 a0023c0033t0012g0118	4	304	0.0132	c.219 others(4): Show c.2193C>T	p.Tyr others(6): Show p.Tyr731Tyr	ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	14/63	2343/12915	2193/9171	731/3056	chr11	TogoVar
ATM_chr11_108218067_108374102	108268456	A A	G G	synonymous_variant synonymous_variant	LOW	HG01175.hp1 HG02257.hp2 HG02922.hp1 others(1): Show HG01175.hp1 HG02257.hp2 HG02922.hp1 HG03453.hp2	a0009 a0023 a0009 a0023	a0009c0013 a0023c0033 a0009c0013 a0023c0033	a0009c0013t0012 a0023c0033t0012 a0009c0013t0012 a0023c0033t0012	a0009c0013t0012g0117 a0009c0013t0012g0119 a0009c0013t0012g0120 others(1): Show a0009c0013t0012g0117 a0009c0013t0012g0119 a0009c0013t0012g0120 a0023c0033t0012g0118	4	304	0.0132	c.268 others(4): Show c.2685A>G	p.Leu others(6): Show p.Leu895Leu	ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	18/63	2835/12915	2685/9171	895/3056	chr11	TogoVar
ATM_chr11_108218067_108374102	108287648	T T	C C	synonymous_variant synonymous_variant	LOW	HG00738.hp2 HG01099.hp1 HG02258.hp2 others(2): Show HG00738.hp2 HG01099.hp1 HG02258.hp2 HG02615.hp2 HG02622.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0031 a0001c0010t0002 a0001c0010t0031	a0001c0010t0002g0029 a0001c0010t0002g0030 a0001c0010t0002g0032 others(2): Show a0001c0010t0002g0029 a0001c0010t0002g0030 a0001c0010t0002g0032 a0001c0010t0002g0053 a0001c0010t0031g0031	5	304	0.0165	c.404 others(4): Show c.4042T>C	p.Leu others(7): Show p.Leu1348Leu	ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	27/63	4192/12915	4042/9171	1348/3056	chr11	TogoVar
ATM_chr11_108218067_108374102	108292760	C C	T T	synonymous_variant synonymous_variant	LOW	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0002 a0001c0027t0002	a0001c0027t0002g0074 a0001c0027t0002g0074	1	304	0.0033	c.457 others(4): Show c.4578C>T	p.Pro others(7): Show p.Pro1526Pro	ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	30/63	4728/12915	4578/9171	1526/3056	chr11	TogoVar
ATM_chr11_108218067_108374102	108310190	T T	C C	synonymous_variant synonymous_variant	LOW	HG00140.hp2 HG02818.hp2 NA18954.hp1 others(1): Show HG00140.hp2 HG02818.hp2 NA18954.hp1 NA19077.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0024 a0001c0012t0037 a0001c0012t0038 a0001c0012t0024 a0001c0012t0037 a0001c0012t0038	a0001c0012t0024g0300 a0001c0012t0024g0303 a0001c0012t0037g0301 others(1): Show a0001c0012t0024g0300 a0001c0012t0024g0303 a0001c0012t0037g0301 a0001c0012t0038g0302	4	304	0.0132	c.579 others(4): Show c.5793T>C	p.Ala others(7): Show p.Ala1931Ala	ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	39/63	5943/12915	5793/9171	1931/3056	chr11	TogoVar
ATM_chr11_108218067_108374102	108316023	T T	C C	synonymous_variant synonymous_variant	LOW	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0240 a0001c0024t0001g0240	1	304	0.0033	c.610 others(4): Show c.6108T>C	p.Tyr others(7): Show p.Tyr2036Tyr	ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	42/63	6258/12915	6108/9171	2036/3056	chr11	TogoVar
ATM_chr11_108218067_108374102	108316062	T T	C C	synonymous_variant synonymous_variant	LOW	HG02818.hp1 HG02818.hp1	a0008 a0008	a0008c0029 a0008c0029	a0008c0029t0002 a0008c0029t0002	a0008c0029t0002g0007 a0008c0029t0002g0007	1	304	0.0033	c.614 others(4): Show c.6147T>C	p.Tyr others(7): Show p.Tyr2049Tyr	ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	42/63	6297/12915	6147/9171	2049/3056	chr11	TogoVar
ATM_chr11_108218067_108374102	108335040	A A	C C	synonymous_variant synonymous_variant	LOW	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0274 a0001c0025t0001g0274	1	304	0.0033	c.808 others(4): Show c.8082A>C	p.Gly others(7): Show p.Gly2694Gly	ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	55/63	8232/12915	8082/9171	2694/3056	chr11	TogoVar
ATN1_chr12_6922959_6947321	6935780	G G	A A	synonymous_variant synonymous_variant	LOW	HG00741.hp1 HG01433.hp1 HG01943.hp1 others(5): Show HG00741.hp1 HG01433.hp1 HG01943.hp1 HG02135.hp1 HG02300.hp1 NA18747.hp1 NA18985.hp2 NA19079.hp2	a0003 a0008 a0003 a0008	a0003c0015 a0008c0029 a0003c0015 a0008c0029	a0003c0015t0001 a0008c0029t0001 a0003c0015t0001 a0008c0029t0001	a0003c0015t0001g0012 a0003c0015t0001g0027 a0003c0015t0001g0038 others(2): Show a0003c0015t0001g0012 a0003c0015t0001g0027 a0003c0015t0001g0038 a0003c0015t0001g0087 a0008c0029t0001g0012	8	414	0.0193	c.513 others(3): Show c.513G>A	p.Pro others(6): Show p.Pro171Pro	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	1101/4702	513/3573	171/1190	chr12	TogoVar
ATN1_chr12_6922959_6947321	6936371	G G	A A	synonymous_variant synonymous_variant	LOW	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0001 a0001c0031t0001	a0001c0031t0001g0003 a0001c0031t0001g0003	1	414	0.0024	c.110 others(4): Show c.1104G>A	p.Ala others(6): Show p.Ala368Ala	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	1692/4702	1104/3573	368/1190	chr12	TogoVar
ATN1_chr12_6922959_6947321	6936728	A A	G G	synonymous_variant synonymous_variant	LOW	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0001 a0001c0049t0001	a0001c0049t0001g0025 a0001c0049t0001g0025	1	414	0.0024	c.146 others(4): Show c.1461A>G	p.Gln others(6): Show p.Gln487Gln	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	2049/4702	1461/3573	487/1190	chr12	TogoVar
ATN1_chr12_6922959_6947321	6936731	G G	A A	synonymous_variant synonymous_variant	LOW	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0001 a0001c0049t0001	a0001c0049t0001g0025 a0001c0049t0001g0025	1	414	0.0024	c.146 others(4): Show c.1464G>A	p.Gln others(6): Show p.Gln488Gln	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	2052/4702	1464/3573	488/1190	chr12	TogoVar
ATN1_chr12_6922959_6947321	6936734	G G	A A	synonymous_variant synonymous_variant	LOW	HG01993.hp1 HG02145.hp1 HG03098.hp1 others(2): Show HG01993.hp1 HG02145.hp1 HG03098.hp1 NA19043.hp1 NA19079.hp2	a0008 a0008	a0008c0019 a0008c0029 a0008c0019 a0008c0029	a0008c0019t0001 a0008c0019t0010 a0008c0029t0001 a0008c0019t0001 a0008c0019t0010 a0008c0029t0001	a0008c0019t0001g0025 a0008c0019t0001g0085 a0008c0019t0010g0051 others(1): Show a0008c0019t0001g0025 a0008c0019t0001g0085 a0008c0019t0010g0051 a0008c0029t0001g0012	5	414	0.0121	c.146 others(4): Show c.1467G>A	p.Gln others(6): Show p.Gln489Gln	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	2055/4702	1467/3573	489/1190	chr12	TogoVar
ATN1_chr12_6922959_6947321	6936737	G G	A A	synonymous_variant synonymous_variant	LOW	HG00741.hp1 HG01433.hp1 HG01891.hp1 others(16): Show HG00741.hp1 HG01433.hp1 HG01891.hp1 HG01943.hp1 HG02135.hp1 HG02258.hp1 HG02300.hp1 HG02559.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp2 NA18747.hp1 NA18985.hp2 NA18999.hp1 NA21309.hp1	a0003 a0003	a0003c0013 a0003c0015 a0003c0013 a0003c0015	a0003c0013t0001 a0003c0013t0005 a0003c0015t0001 a0003c0013t0001 a0003c0013t0005 a0003c0015t0001	a0003c0013t0001g0012 a0003c0013t0001g0027 a0003c0013t0001g0031 others(10): Show a0003c0013t0001g0012 a0003c0013t0001g0027 a0003c0013t0001g0031 a0003c0013t0001g0038 a0003c0013t0001g0069 a0003c0013t0001g0092 a0003c0013t0001g0109 a0003c0013t0001g0111 a0003c0013t0005g0075 a0003c0015t0001g0012 a0003c0015t0001g0027 a0003c0015t0001g0038 a0003c0015t0001g0087	19	414	0.0459	c.147 others(4): Show c.1470G>A	p.Gln others(6): Show p.Gln490Gln	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	2058/4702	1470/3573	490/1190	chr12	TogoVar
ATN1_chr12_6922959_6947321	6936776	T T	C C	synonymous_variant synonymous_variant	LOW	NA19074.hp1 NA19076.hp1 NA19085.hp2 NA19074.hp1 NA19076.hp1 NA19085.hp2	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0006 a0011c0020t0006	a0011c0020t0006g0022 a0011c0020t0006g0049 a0011c0020t0006g0022 a0011c0020t0006g0049	3	414	0.0073	c.150 others(4): Show c.1509T>C	p.His others(6): Show p.His503His	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	2097/4702	1509/3573	503/1190	chr12	TogoVar
ATN1_chr12_6922959_6947321	6936914	G G	A A	synonymous_variant synonymous_variant	LOW	HG00735.hp1 HG00738.hp2 HG01123.hp2 others(1): Show HG00735.hp1 HG00738.hp2 HG01123.hp2 NA20752.hp1	a0001 a0007 a0001 a0007	a0001c0022 a0007c0037 a0001c0022 a0007c0037	a0001c0022t0001 a0007c0037t0001 a0001c0022t0001 a0007c0037t0001	a0001c0022t0001g0037 a0001c0022t0001g0074 a0007c0037t0001g0016 a0001c0022t0001g0037 a0001c0022t0001g0074 a0007c0037t0001g0016	4	414	0.0097	c.164 others(4): Show c.1647G>A	p.Leu others(6): Show p.Leu549Leu	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	2235/4702	1647/3573	549/1190	chr12	TogoVar
ATN1_chr12_6922959_6947321	6937166	A A	C C	synonymous_variant synonymous_variant	LOW	NA19009.hp1 NA19009.hp1	a0005 a0005	a0005c0039 a0005c0039	a0005c0039t0001 a0005c0039t0001	a0005c0039t0001g0003 a0005c0039t0001g0003	1	414	0.0024	c.189 others(4): Show c.1899A>C	p.Pro others(6): Show p.Pro633Pro	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	2487/4702	1899/3573	633/1190	chr12	TogoVar
ATN1_chr12_6922959_6947321	6937268	G G	C C	synonymous_variant synonymous_variant	LOW	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0001 a0001c0040t0001	a0001c0040t0001g0048 a0001c0040t0001g0048	1	414	0.0024	c.200 others(4): Show c.2001G>C	p.Thr others(6): Show p.Thr667Thr	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	2589/4702	2001/3573	667/1190	chr12	TogoVar
ATN1_chr12_6922959_6947321	6937428	C C	T T	synonymous_variant synonymous_variant	LOW	HG00323.hp2 HG01175.hp1 HG00323.hp2 HG01175.hp1	a0002 a0002	a0002c0028 a0002c0028	a0002c0028t0001 a0002c0028t0001	a0002c0028t0001g0001 a0002c0028t0001g0039 a0002c0028t0001g0001 a0002c0028t0001g0039	2	414	0.0048	c.216 others(4): Show c.2161C>T	p.Leu others(6): Show p.Leu721Leu	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	2749/4702	2161/3573	721/1190	chr12	TogoVar
ATN1_chr12_6922959_6947321	6937854	A A	G G	synonymous_variant synonymous_variant	LOW	HG02132.hp1 HG02523.hp2 HG03834.hp1 others(1): Show HG02132.hp1 HG02523.hp2 HG03834.hp1 NA18998.hp1	a0007 a0012 a0007 a0012	a0007c0021 a0012c0036 a0007c0021 a0012c0036	a0007c0021t0001 a0012c0036t0001 a0007c0021t0001 a0012c0036t0001	a0007c0021t0001g0002 a0007c0021t0001g0036 a0012c0036t0001g0002 a0007c0021t0001g0002 a0007c0021t0001g0036 a0012c0036t0001g0002	4	414	0.0097	c.230 others(4): Show c.2304A>G	p.Lys others(6): Show p.Lys768Lys	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	6/10	2892/4702	2304/3573	768/1190	chr12	TogoVar
ATN1_chr12_6922959_6947321	6937980	C C	A A	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00642.hp1 HG00733.hp1 others(37): Show HG00099.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp2 HG01255.hp2 HG01346.hp1 HG01433.hp2 HG01516.hp2 HG02055.hp2 HG02257.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02922.hp1 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03927.hp2 HG06807.hp2 NA18612.hp2 NA20752.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0006 a0007 a0008 a0013 a0020 a0021 a0023	a0001c0011 a0001c0022 a0002c0045 others(9): Show a0001c0011 a0001c0022 a0002c0045 a0003c0042 a0006c0009 a0007c0037 a0007c0038 a0008c0041 a0013c0035 a0020c0052 a0021c0051 a0023c0048	a0001c0011t0001 a0001c0011t0004 a0001c0022t0001 others(11): Show a0001c0011t0001 a0001c0011t0004 a0001c0022t0001 a0002c0045t0001 a0003c0042t0001 a0006c0009t0001 a0006c0009t0004 a0007c0037t0001 a0007c0038t0008 a0008c0041t0001 a0013c0035t0001 a0020c0052t0001 a0021c0051t0001 a0023c0048t0004	a0001c0011t0001g0004 a0001c0011t0001g0005 a0001c0011t0001g0021 others(21): Show a0001c0011t0001g0004 a0001c0011t0001g0005 a0001c0011t0001g0021 a0001c0011t0004g0005 a0001c0011t0004g0016 a0001c0011t0004g0123 a0001c0022t0001g0037 a0001c0022t0001g0074 a0002c0045t0001g0032 a0003c0042t0001g0005 a0006c0009t0001g0004 a0006c0009t0001g0005 a0006c0009t0001g0034 a0006c0009t0001g0035 a0006c0009t0001g0064 a0006c0009t0001g0122 a0006c0009t0004g0005 a0007c0037t0001g0016 a0007c0038t0008g0004 a0008c0041t0001g0005 a0013c0035t0001g0004 a0020c0052t0001g0124 a0021c0051t0001g0125 a0023c0048t0004g0005	40	414	0.0966	c.243 others(4): Show c.2430C>A	p.Arg others(6): Show p.Arg810Arg	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	6/10	3018/4702	2430/3573	810/1190	chr12	TogoVar
ATN1_chr12_6922959_6947321	6940923	G G	A A	synonymous_variant synonymous_variant	LOW	NA18992.hp1 NA18992.hp1	a0002 a0002	a0002c0046 a0002c0046	a0002c0046t0001 a0002c0046t0001	a0002c0046t0001g0042 a0002c0046t0001g0042	1	414	0.0024	c.325 others(4): Show c.3258G>A	p.Gly others(7): Show p.Gly1086Gly	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	8/10	3846/4702	3258/3573	1086/1190	chr12	TogoVar
ATOH1_chr4_93823753_93835964	93829076	G G	T T	synonymous_variant synonymous_variant	LOW	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0000 a0001c0008t0005g0000	1	458	0.0022	c.150 others(3): Show c.150G>T	p.Pro others(5): Show p.Pro50Pro	ATOH1	ENSG00000172238.6	transcript	ENST00000306011.6	protein_coding	1/1	324/2212	150/1065	50/354	chr4	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)