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
ASTN2_chr9_116418112_117420057	116426079	G G	A A	synonymous_variant synonymous_variant	LOW	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0002 a0001c0023t0002	a0001c0023t0002g0069 a0001c0023t0002g0069	1	102	0.0098	c.379 others(4): Show c.3792C>T	p.His others(7): Show p.His1264His	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	23/23	3911/6878	3792/4020	1264/1339	chr9	TogoVar
ASTN2_chr9_116418112_117420057	116651573	A A	T T	synonymous_variant synonymous_variant	LOW	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0089 a0001c0017t0002g0089	1	102	0.0098	c.302 others(4): Show c.3027T>A	p.Arg others(7): Show p.Arg1009Arg	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	17/23	3146/6878	3027/4020	1009/1339	chr9	TogoVar
ASTN2_chr9_116418112_117420057	116651696	C C	T T	synonymous_variant synonymous_variant	LOW	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0020 a0001c0022t0001g0020	1	102	0.0098	c.290 others(4): Show c.2904G>A	p.Gln others(6): Show p.Gln968Gln	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	17/23	3023/6878	2904/4020	968/1339	chr9	TogoVar
ASTN2_chr9_116418112_117420057	116733418	T T	C C	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00639.hp1 others(96): Show HG00099.hp1 HG00099.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG02004.hp1 HG02004.hp2 HG02109.hp1 HG02109.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp1 HG02698.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG04199.hp1 HG04199.hp2 NA18906.hp1 NA18906.hp2 NA18959.hp1 NA18959.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(20): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0017 a0001c0021 a0001c0022 a0001c0023 a0002c0004 a0003c0016 a0003c0019 a0004c0024 a0005c0015 a0006c0020 a0007c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0002t0010 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0010 a0001c0003t0012 a0001c0003t0014 a0001c0005t0005 a0001c0007t0001 a0001c0008t0005 a0001c0009t0004 a0001c0009t0008 a0001c0010t0001 a0001c0010t0004 a0001c0011t0004 a0001c0012t0001 a0001c0013t0009 a0001c0014t0017 a0001c0017t0002 a0001c0021t0006 a0001c0022t0001 a0001c0023t0002 a0002c0004t0001 a0002c0004t0002 a0002c0004t0005 a0002c0004t0006 a0003c0016t0004 a0003c0019t0002 a0004c0024t0013 a0005c0015t0003 a0006c0020t0001 a0007c0018t0003	a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0034 others(96): Show a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0054 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0002g0018 a0001c0001t0002g0040 a0001c0001t0002g0051 a0001c0001t0002g0070 a0001c0001t0003g0013 a0001c0001t0003g0063 a0001c0001t0003g0090 a0001c0001t0004g0060 a0001c0001t0005g0035 a0001c0001t0005g0077 a0001c0001t0005g0096 a0001c0001t0006g0014 a0001c0001t0006g0016 a0001c0001t0006g0079 a0001c0001t0007g0078 a0001c0001t0007g0087 a0001c0001t0008g0008 a0001c0001t0008g0065 a0001c0001t0009g0086 a0001c0001t0011g0002 a0001c0001t0015g0045 a0001c0001t0016g0075 a0001c0002t0001g0033 a0001c0002t0001g0036 a0001c0002t0001g0042 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0067 a0001c0002t0001g0093 a0001c0002t0002g0023 a0001c0002t0002g0046 a0001c0002t0002g0053 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0041 a0001c0002t0003g0066 a0001c0002t0003g0068 a0001c0002t0003g0094 a0001c0002t0004g0029 a0001c0002t0004g0043 a0001c0002t0004g0047 a0001c0002t0004g0062 a0001c0002t0004g0091 a0001c0002t0004g0092 a0001c0002t0008g0024 a0001c0002t0010g0064 a0001c0003t0001g0038 a0001c0003t0001g0055 a0001c0003t0002g0044 a0001c0003t0003g0030 a0001c0003t0004g0085 a0001c0003t0005g0082 a0001c0003t0006g0017 a0001c0003t0006g0026 a0001c0003t0007g0071 a0001c0003t0007g0074 a0001c0003t0010g0052 a0001c0003t0012g0001 a0001c0003t0014g0083 a0001c0005t0005g0007 a0001c0005t0005g0048 a0001c0005t0005g0076 a0001c0005t0005g0084 a0001c0007t0001g0010 a0001c0007t0001g0011 a0001c0008t0005g0073 a0001c0008t0005g0081 a0001c0009t0004g0032 a0001c0009t0008g0088 a0001c0010t0001g0102 a0001c0010t0004g0009 a0001c0011t0004g0097 a0001c0012t0001g0098 a0001c0013t0009g0072 a0001c0014t0017g0050 a0001c0017t0002g0089 a0001c0021t0006g0056 a0001c0022t0001g0020 a0001c0023t0002g0069 a0002c0004t0001g0004 a0002c0004t0002g0005 a0002c0004t0005g0006 a0002c0004t0006g0003 a0003c0016t0004g0027 a0003c0019t0002g0025 a0004c0024t0013g0101 a0005c0015t0003g0019 a0006c0020t0001g0039 a0007c0018t0003g0031	99	102	0.9706	c.250 others(4): Show c.2502A>G	p.Pro others(6): Show p.Pro834Pro	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	14/23	2621/6878	2502/4020	834/1339	chr9	TogoVar
ASTN2_chr9_116418112_117420057	116976736	G G	A A	synonymous_variant synonymous_variant	LOW	HG00639.hp1 HG01109.hp1 HG01109.hp2 others(15): Show HG00639.hp1 HG01109.hp1 HG01109.hp2 HG01496.hp1 HG01884.hp2 HG02109.hp1 HG02615.hp1 HG02886.hp1 HG03130.hp1 HG03209.hp1 HG03540.hp1 HG04199.hp1 HG04199.hp2 NA18906.hp1 NA18906.hp2 NA19011.hp1 NA20129.hp1 NA20752.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0003 a0001c0012 a0001c0021 others(3): Show a0001c0003 a0001c0012 a0001c0021 a0001c0025 a0003c0019 a0006c0020	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(12): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0010 a0001c0003t0012 a0001c0003t0014 a0001c0012t0001 a0001c0021t0006 a0001c0025t0001 a0003c0019t0002 a0006c0020t0001	a0001c0003t0001g0038 a0001c0003t0001g0055 a0001c0003t0002g0044 others(15): Show a0001c0003t0001g0038 a0001c0003t0001g0055 a0001c0003t0002g0044 a0001c0003t0003g0030 a0001c0003t0004g0085 a0001c0003t0005g0082 a0001c0003t0006g0017 a0001c0003t0006g0026 a0001c0003t0007g0071 a0001c0003t0007g0074 a0001c0003t0010g0052 a0001c0003t0012g0001 a0001c0003t0014g0083 a0001c0012t0001g0098 a0001c0021t0006g0056 a0001c0025t0001g0080 a0003c0019t0002g0025 a0006c0020t0001g0039	18	102	0.1765	c.164 others(4): Show c.1641C>T	p.His others(6): Show p.His547His	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	8/23	1760/6878	1641/4020	547/1339	chr9	TogoVar
ASTN2_chr9_116418112_117420057	117008201	C C	T T	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00639.hp2 HG01099.hp1 others(36): Show HG00099.hp2 HG00639.hp2 HG01099.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG02004.hp1 HG02004.hp2 HG02698.hp1 HG02896.hp1 HG03130.hp1 HG03130.hp2 HG03239.hp1 HG03239.hp2 HG04199.hp1 HG04199.hp2 NA18959.hp1 NA18959.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19065.hp1 NA19066.hp2 NA20300.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0006 a0007	a0001c0002 a0001c0008 a0001c0009 others(8): Show a0001c0002 a0001c0008 a0001c0009 a0001c0010 a0001c0017 a0001c0021 a0003c0016 a0003c0019 a0005c0015 a0006c0020 a0007c0018	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(15): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0002t0010 a0001c0008t0005 a0001c0009t0004 a0001c0009t0008 a0001c0010t0001 a0001c0010t0004 a0001c0017t0002 a0001c0021t0006 a0003c0016t0004 a0003c0019t0002 a0005c0015t0003 a0006c0020t0001 a0007c0018t0003	a0001c0002t0001g0033 a0001c0002t0001g0036 a0001c0002t0001g0042 others(36): Show a0001c0002t0001g0033 a0001c0002t0001g0036 a0001c0002t0001g0042 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0067 a0001c0002t0001g0093 a0001c0002t0002g0023 a0001c0002t0002g0046 a0001c0002t0002g0053 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0041 a0001c0002t0003g0066 a0001c0002t0003g0068 a0001c0002t0003g0094 a0001c0002t0004g0029 a0001c0002t0004g0043 a0001c0002t0004g0047 a0001c0002t0004g0062 a0001c0002t0004g0091 a0001c0002t0004g0092 a0001c0002t0008g0024 a0001c0002t0010g0064 a0001c0008t0005g0073 a0001c0008t0005g0081 a0001c0009t0004g0032 a0001c0009t0008g0088 a0001c0010t0001g0102 a0001c0010t0004g0009 a0001c0017t0002g0089 a0001c0021t0006g0056 a0003c0016t0004g0027 a0003c0019t0002g0025 a0005c0015t0003g0019 a0006c0020t0001g0039 a0007c0018t0003g0031	39	102	0.3824	c.148 others(4): Show c.1482G>A	p.Pro others(6): Show p.Pro494Pro	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	7/23	1601/6878	1482/4020	494/1339	chr9	TogoVar
ASTN2_chr9_116418112_117420057	117008216	G G	A A	synonymous_variant synonymous_variant	LOW	NA19066.hp2 NA20300.hp2 NA19066.hp2 NA20300.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0008 a0001c0009t0004 a0001c0009t0008	a0001c0009t0004g0032 a0001c0009t0008g0088 a0001c0009t0004g0032 a0001c0009t0008g0088	2	102	0.0196	c.146 others(4): Show c.1467C>T	p.Ser others(6): Show p.Ser489Ser	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	7/23	1586/6878	1467/4020	489/1339	chr9	TogoVar
ASTN2_chr9_116418112_117420057	117214575	C C	T T	synonymous_variant synonymous_variant	LOW	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0017 a0001c0014t0017	a0001c0014t0017g0050 a0001c0014t0017g0050	1	102	0.0098	c.798 others(3): Show c.798G>A	p.Glu others(6): Show p.Glu266Glu	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	3/23	917/6878	798/4020	266/1339	chr9	TogoVar
ASTN2_chr9_116418112_117420057	117214668	C C	T T	synonymous_variant synonymous_variant	LOW	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0009 a0001c0013t0009	a0001c0013t0009g0072 a0001c0013t0009g0072	1	102	0.0098	c.705 others(3): Show c.705G>A	p.Lys others(6): Show p.Lys235Lys	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	3/23	824/6878	705/4020	235/1339	chr9	TogoVar
ASTN2_chr9_116418112_117420057	117214734	G G	T T	synonymous_variant synonymous_variant	LOW	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0098 a0001c0012t0001g0098	1	102	0.0098	c.639 others(3): Show c.639C>A	p.Leu others(6): Show p.Leu213Leu	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	3/23	758/6878	639/4020	213/1339	chr9	TogoVar
ASTN2_chr9_116418112_117420057	117291395	G G	A A	synonymous_variant synonymous_variant	LOW	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0004 a0001c0011t0004	a0001c0011t0004g0097 a0001c0011t0004g0097	1	102	0.0098	c.561 others(3): Show c.561C>T	p.Thr others(6): Show p.Thr187Thr	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	2/23	680/6878	561/4020	187/1339	chr9	TogoVar
ASTN2_chr9_116418112_117420057	117291416	G G	A A	synonymous_variant synonymous_variant	LOW	HG02004.hp2 NA18959.hp1 HG02004.hp2 NA18959.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0004 a0001c0010t0001 a0001c0010t0004	a0001c0010t0001g0102 a0001c0010t0004g0009 a0001c0010t0001g0102 a0001c0010t0004g0009	2	102	0.0196	c.540 others(3): Show c.540C>T	p.Ser others(6): Show p.Ser180Ser	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	2/23	659/6878	540/4020	180/1339	chr9	TogoVar
ASTN2_chr9_116418112_117420057	117291497	T T	C C	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00639.hp1 others(94): Show HG00099.hp1 HG00099.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG02004.hp1 HG02004.hp2 HG02109.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02698.hp1 HG02698.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG04199.hp1 HG04199.hp2 NA18906.hp1 NA18906.hp2 NA18959.hp1 NA18959.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(19): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0009 a0001c0010 a0001c0012 a0001c0013 a0001c0014 a0001c0017 a0001c0021 a0001c0022 a0001c0023 a0001c0025 a0002c0004 a0003c0016 a0003c0019 a0004c0024 a0005c0015 a0006c0020 a0007c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(49): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0002t0010 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0010 a0001c0003t0012 a0001c0003t0014 a0001c0005t0005 a0001c0008t0005 a0001c0009t0004 a0001c0009t0008 a0001c0010t0001 a0001c0010t0004 a0001c0012t0001 a0001c0013t0009 a0001c0014t0017 a0001c0017t0002 a0001c0021t0006 a0001c0022t0001 a0001c0023t0002 a0001c0025t0001 a0002c0004t0001 a0002c0004t0002 a0002c0004t0005 a0002c0004t0006 a0003c0016t0004 a0003c0019t0002 a0004c0024t0013 a0005c0015t0003 a0006c0020t0001 a0007c0018t0003	a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0034 others(94): Show a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0054 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0002g0018 a0001c0001t0002g0040 a0001c0001t0002g0051 a0001c0001t0002g0070 a0001c0001t0003g0013 a0001c0001t0003g0063 a0001c0001t0003g0090 a0001c0001t0004g0060 a0001c0001t0005g0035 a0001c0001t0005g0077 a0001c0001t0005g0096 a0001c0001t0006g0014 a0001c0001t0006g0016 a0001c0001t0006g0079 a0001c0001t0007g0078 a0001c0001t0007g0087 a0001c0001t0008g0008 a0001c0001t0008g0065 a0001c0001t0009g0086 a0001c0001t0011g0002 a0001c0001t0015g0045 a0001c0001t0016g0075 a0001c0002t0001g0033 a0001c0002t0001g0036 a0001c0002t0001g0042 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0067 a0001c0002t0001g0093 a0001c0002t0002g0023 a0001c0002t0002g0046 a0001c0002t0002g0053 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0041 a0001c0002t0003g0066 a0001c0002t0003g0068 a0001c0002t0003g0094 a0001c0002t0004g0029 a0001c0002t0004g0043 a0001c0002t0004g0047 a0001c0002t0004g0062 a0001c0002t0004g0091 a0001c0002t0004g0092 a0001c0002t0008g0024 a0001c0002t0010g0064 a0001c0003t0001g0038 a0001c0003t0001g0055 a0001c0003t0002g0044 a0001c0003t0003g0030 a0001c0003t0004g0085 a0001c0003t0005g0082 a0001c0003t0006g0017 a0001c0003t0006g0026 a0001c0003t0007g0071 a0001c0003t0007g0074 a0001c0003t0010g0052 a0001c0003t0012g0001 a0001c0003t0014g0083 a0001c0005t0005g0007 a0001c0005t0005g0048 a0001c0005t0005g0076 a0001c0005t0005g0084 a0001c0008t0005g0073 a0001c0008t0005g0081 a0001c0009t0004g0032 a0001c0009t0008g0088 a0001c0010t0001g0102 a0001c0010t0004g0009 a0001c0012t0001g0098 a0001c0013t0009g0072 a0001c0014t0017g0050 a0001c0017t0002g0089 a0001c0021t0006g0056 a0001c0022t0001g0020 a0001c0023t0002g0069 a0001c0025t0001g0080 a0002c0004t0001g0004 a0002c0004t0002g0005 a0002c0004t0005g0006 a0002c0004t0006g0003 a0003c0016t0004g0027 a0003c0019t0002g0025 a0004c0024t0013g0101 a0005c0015t0003g0019 a0006c0020t0001g0039 a0007c0018t0003g0031	97	102	0.9510	c.459 others(3): Show c.459A>G	p.Ala others(6): Show p.Ala153Ala	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	2/23	578/6878	459/4020	153/1339	chr9	TogoVar
ASTN2_chr9_116418112_117420057	117414597	G G	T T	synonymous_variant synonymous_variant	LOW	HG03041.hp1 HG03471.hp2 NA20300.hp1 others(1): Show HG03041.hp1 HG03471.hp2 NA20300.hp1 NA21309.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0002 a0002c0004t0005 others(1): Show a0002c0004t0001 a0002c0004t0002 a0002c0004t0005 a0002c0004t0006	a0002c0004t0001g0004 a0002c0004t0002g0005 a0002c0004t0005g0006 others(1): Show a0002c0004t0001g0004 a0002c0004t0002g0005 a0002c0004t0005g0006 a0002c0004t0006g0003	4	102	0.0392	c.342 others(3): Show c.342C>A	p.Ala others(6): Show p.Ala114Ala	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	1/23	461/6878	342/4020	114/1339	chr9	TogoVar
ASXL1_chr20_32353331_32444319	32429917	C C	T T	synonymous_variant synonymous_variant	LOW	HG02258.hp1 HG02280.hp1 HG02559.hp1 others(8): Show HG02258.hp1 HG02280.hp1 HG02559.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG03195.hp1 HG03579.hp1 NA19030.hp2	a0001 a0011 a0001 a0011	a0001c0005 a0001c0026 a0011c0027 a0001c0005 a0001c0026 a0011c0027	a0001c0005t0001 a0001c0005t0015 a0001c0026t0001 others(1): Show a0001c0005t0001 a0001c0005t0015 a0001c0026t0001 a0011c0027t0001	a0001c0005t0001g0020 a0001c0005t0001g0182 a0001c0005t0001g0185 others(8): Show a0001c0005t0001g0020 a0001c0005t0001g0182 a0001c0005t0001g0185 a0001c0005t0001g0186 a0001c0005t0001g0187 a0001c0005t0001g0188 a0001c0005t0001g0189 a0001c0005t0001g0277 a0001c0005t0015g0184 a0001c0026t0001g0183 a0011c0027t0001g0142	11	282	0.0390	c.582 others(3): Show c.582C>T	p.His others(6): Show p.His194His	ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	8/13	1027/7052	582/4626	194/1541	chr20	TogoVar
ASXL1_chr20_32353331_32444319	32434641	G G	T T	synonymous_variant synonymous_variant	LOW	NA18942.hp2 NA18942.hp2	a0004 a0004	a0004c0025 a0004c0025	a0004c0025t0006 a0004c0025t0006	a0004c0025t0006g0003 a0004c0025t0006g0003	1	282	0.0036	c.192 others(4): Show c.1929G>T	p.Gly others(6): Show p.Gly643Gly	ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	13/13	2374/7052	1929/4626	643/1541	chr20	TogoVar
ASXL1_chr20_32353331_32444319	32434665	C C	T T	synonymous_variant synonymous_variant	LOW	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0024 a0003c0024	a0003c0024t0011 a0003c0024t0011	a0003c0024t0011g0104 a0003c0024t0011g0104	1	282	0.0036	c.195 others(4): Show c.1953C>T	p.Gly others(6): Show p.Gly651Gly	ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	13/13	2398/7052	1953/4626	651/1541	chr20	TogoVar
ASXL1_chr20_32353331_32444319	32434677	C C	T T	synonymous_variant synonymous_variant	LOW	HG01167.hp1 HG01884.hp1 HG02572.hp1 others(2): Show HG01167.hp1 HG01884.hp1 HG02572.hp1 HG02622.hp2 NA20300.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0003 a0005c0009t0003	a0005c0009t0003g0177 a0005c0009t0003g0178 a0005c0009t0003g0179 others(2): Show a0005c0009t0003g0177 a0005c0009t0003g0178 a0005c0009t0003g0179 a0005c0009t0003g0180 a0005c0009t0003g0181	5	282	0.0177	c.196 others(4): Show c.1965C>T	p.Thr others(6): Show p.Thr655Thr	ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	13/13	2410/7052	1965/4626	655/1541	chr20	TogoVar
ASXL1_chr20_32353331_32444319	32434962	C C	T T	synonymous_variant synonymous_variant	LOW	HG01243.hp2 HG02486.hp2 HG03098.hp1 others(2): Show HG01243.hp2 HG02486.hp2 HG03098.hp1 HG03471.hp2 NA19043.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0004 a0001c0008t0001 a0001c0008t0004	a0001c0008t0001g0050 a0001c0008t0001g0051 a0001c0008t0001g0052 others(2): Show a0001c0008t0001g0050 a0001c0008t0001g0051 a0001c0008t0001g0052 a0001c0008t0001g0053 a0001c0008t0004g0044	5	282	0.0177	c.225 others(4): Show c.2250C>T	p.Pro others(6): Show p.Pro750Pro	ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	13/13	2695/7052	2250/4626	750/1541	chr20	TogoVar
ASXL1_chr20_32353331_32444319	32435595	T T	C C	synonymous_variant synonymous_variant	LOW	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0183 a0001c0026t0001g0183	1	282	0.0036	c.288 others(4): Show c.2883T>C	p.Thr others(6): Show p.Thr961Thr	ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	13/13	3328/7052	2883/4626	961/1541	chr20	TogoVar
ASXL1_chr20_32353331_32444319	32435697	C C	T T	synonymous_variant synonymous_variant	LOW	HG01261.hp2 HG01358.hp2 HG02300.hp1 others(8): Show HG01261.hp2 HG01358.hp2 HG02300.hp1 HG02922.hp2 HG03831.hp1 NA18942.hp2 NA18960.hp2 NA18982.hp1 NA19007.hp2 NA19063.hp1 NA19079.hp1	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0022 a0004c0006 a0004c0025 others(1): Show a0001c0022 a0004c0006 a0004c0025 a0009c0012	a0001c0022t0001 a0004c0006t0006 a0004c0006t0008 others(2): Show a0001c0022t0001 a0004c0006t0006 a0004c0006t0008 a0004c0025t0006 a0009c0012t0006	a0001c0022t0001g0011 a0004c0006t0006g0001 a0004c0006t0006g0004 others(8): Show a0001c0022t0001g0011 a0004c0006t0006g0001 a0004c0006t0006g0004 a0004c0006t0006g0005 a0004c0006t0006g0006 a0004c0006t0006g0008 a0004c0006t0008g0002 a0004c0006t0008g0010 a0004c0025t0006g0003 a0009c0012t0006g0007 a0009c0012t0006g0009	11	282	0.0390	c.298 others(4): Show c.2985C>T	p.His others(6): Show p.His995His	ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	13/13	3430/7052	2985/4626	995/1541	chr20	TogoVar
ASXL1_chr20_32353331_32444319	32436231	G G	A A	synonymous_variant synonymous_variant	LOW	HG01261.hp2 HG01358.hp2 HG02300.hp1 others(7): Show HG01261.hp2 HG01358.hp2 HG02300.hp1 HG03831.hp1 NA18942.hp2 NA18960.hp2 NA18982.hp1 NA19007.hp2 NA19063.hp1 NA19079.hp1	a0004 a0009 a0004 a0009	a0004c0006 a0004c0025 a0009c0012 a0004c0006 a0004c0025 a0009c0012	a0004c0006t0006 a0004c0006t0008 a0004c0025t0006 others(1): Show a0004c0006t0006 a0004c0006t0008 a0004c0025t0006 a0009c0012t0006	a0004c0006t0006g0001 a0004c0006t0006g0004 a0004c0006t0006g0005 others(7): Show a0004c0006t0006g0001 a0004c0006t0006g0004 a0004c0006t0006g0005 a0004c0006t0006g0006 a0004c0006t0006g0008 a0004c0006t0008g0002 a0004c0006t0008g0010 a0004c0025t0006g0003 a0009c0012t0006g0007 a0009c0012t0006g0009	10	282	0.0355	c.351 others(4): Show c.3519G>A	p.Leu others(7): Show p.Leu1173Leu	ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	13/13	3964/7052	3519/4626	1173/1541	chr20	TogoVar
ASXL1_chr20_32353331_32444319	32436471	T T	C C	synonymous_variant synonymous_variant	LOW	HG00140.hp2 HG00323.hp1 HG00544.hp1 others(96): Show HG00140.hp2 HG00323.hp1 HG00544.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp1 HG01361.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG01993.hp1 HG02004.hp1 HG02055.hp1 HG02056.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02165.hp2 HG02258.hp2 HG02280.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02723.hp2 HG02886.hp2 HG03017.hp1 HG03130.hp2 HG03209.hp2 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03654.hp2 HG03688.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp2 NA18940.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18967.hp1 NA18968.hp1 NA18972.hp1 NA18975.hp1 NA18978.hp1 NA18979.hp1 NA18981.hp2 NA18982.hp2 NA18988.hp2 NA18989.hp2 NA18997.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19010.hp1 NA19011.hp2 NA19054.hp1 NA19056.hp2 NA19065.hp2 NA19077.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19087.hp1 NA19088.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0008 a0010 others(3): Show a0001 a0008 a0010 a0012 a0013 a0014	a0001c0002 a0001c0017 a0008c0011 others(4): Show a0001c0002 a0001c0017 a0008c0011 a0010c0013 a0012c0016 a0013c0015 a0014c0023	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 others(9): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0010 a0001c0002t0018 a0001c0017t0010 a0008c0011t0002 a0010c0013t0002 a0012c0016t0002 a0013c0015t0002 a0014c0023t0002	a0001c0002t0001g0241 a0001c0002t0001g0253 a0001c0002t0002g0013 others(96): Show a0001c0002t0001g0241 a0001c0002t0001g0253 a0001c0002t0002g0013 a0001c0002t0002g0019 a0001c0002t0002g0021 a0001c0002t0002g0023 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0030 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0258 a0001c0002t0002g0260 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0267 a0001c0002t0002g0269 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0279 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0005g0024 a0001c0002t0005g0224 a0001c0002t0005g0227 a0001c0002t0005g0235 a0001c0002t0005g0257 a0001c0002t0005g0259 a0001c0002t0005g0266 a0001c0002t0005g0280 a0001c0002t0007g0029 a0001c0002t0007g0261 a0001c0002t0007g0262 a0001c0002t0007g0263 a0001c0002t0010g0214 a0001c0002t0018g0022 a0001c0017t0010g0246 a0008c0011t0002g0270 a0008c0011t0002g0271 a0008c0011t0002g0273 a0008c0011t0002g0274 a0010c0013t0002g0205 a0012c0016t0002g0230 a0013c0015t0002g0268 a0014c0023t0002g0272	99	282	0.3511	c.375 others(4): Show c.3759T>C	p.Ser others(7): Show p.Ser1253Ser	ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	13/13	4204/7052	3759/4626	1253/1541	chr20	TogoVar
ASXL1_chr20_32353331_32444319	32436519	G G	A A	synonymous_variant synonymous_variant	LOW	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0070 a0001c0018t0001g0070	1	282	0.0036	c.380 others(4): Show c.3807G>A	p.Ser others(7): Show p.Ser1269Ser	ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	13/13	4252/7052	3807/4626	1269/1541	chr20	TogoVar
ASXL1_chr20_32353331_32444319	32436645	T T	C C	synonymous_variant synonymous_variant	LOW	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0012 a0001c0019t0012	a0001c0019t0012g0095 a0001c0019t0012g0095	1	282	0.0036	c.393 others(4): Show c.3933T>C	p.Ala others(7): Show p.Ala1311Ala	ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	13/13	4378/7052	3933/4626	1311/1541	chr20	TogoVar
ASXL1_chr20_32353331_32444319	32436810	C C	T T	synonymous_variant synonymous_variant	LOW	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0107 a0001c0020t0001g0107	1	282	0.0036	c.409 others(4): Show c.4098C>T	p.Ser others(7): Show p.Ser1366Ser	ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	13/13	4543/7052	4098/4626	1366/1541	chr20	TogoVar
ASXL1_chr20_32353331_32444319	32437206	G G	A A	synonymous_variant synonymous_variant	LOW	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0010 a0001c0017t0010	a0001c0017t0010g0246 a0001c0017t0010g0246	1	282	0.0036	c.449 others(4): Show c.4494G>A	p.Thr others(7): Show p.Thr1498Thr	ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	13/13	4939/7052	4494/4626	1498/1541	chr20	TogoVar
ASXL2_chr2_25728753_25883487	25742149	C C	T T	synonymous_variant synonymous_variant	LOW	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0030 a0001c0008t0030	a0001c0008t0030g0093 a0001c0008t0030g0093	1	222	0.0045	c.418 others(4): Show c.4188G>A	p.Thr others(7): Show p.Thr1396Thr	ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	13/13	4453/12849	4188/4308	1396/1435	chr2	TogoVar
ASXL2_chr2_25728753_25883487	25750191	C C	T T	synonymous_variant synonymous_variant	LOW	HG01081.hp2 HG01433.hp1 HG02735.hp1 others(2): Show HG01081.hp2 HG01433.hp1 HG02735.hp1 HG03688.hp1 HG03710.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0075 a0002c0003t0008g0076 a0002c0003t0008g0077 others(2): Show a0002c0003t0008g0075 a0002c0003t0008g0076 a0002c0003t0008g0077 a0002c0003t0008g0078 a0002c0003t0008g0079	5	222	0.0225	c.136 others(4): Show c.1365G>A	p.Pro others(6): Show p.Pro455Pro	ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	12/13	1630/12849	1365/4308	455/1435	chr2	TogoVar
ASXL2_chr2_25728753_25883487	25753581	T T	C C	synonymous_variant synonymous_variant	LOW	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0003 a0001c0011t0003	a0001c0011t0003g0034 a0001c0011t0003g0034	1	222	0.0045	c.109 others(4): Show c.1095A>G	p.Lys others(6): Show p.Lys365Lys	ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	11/13	1360/12849	1095/4308	365/1435	chr2	TogoVar
ASXL2_chr2_25728753_25883487	25767716	T T	C C	synonymous_variant synonymous_variant	LOW	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0032 a0001c0012t0032	a0001c0012t0032g0016 a0001c0012t0032g0016	1	222	0.0045	c.642 others(3): Show c.642A>G	p.Glu others(6): Show p.Glu214Glu	ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	8/13	907/12849	642/4308	214/1435	chr2	TogoVar
ASXL3_chr18_33573219_33756195	33739399	A A	G G	synonymous_variant synonymous_variant	LOW	HG03195.hp2 HG03195.hp2	a0006 a0006	a0006c0025 a0006c0025	a0006c0025t0077 a0006c0025t0077	a0006c0025t0077g0004 a0006c0025t0077g0004	1	220	0.0046	c.199 others(4): Show c.1995A>G	p.Arg others(6): Show p.Arg665Arg	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	11/12	2408/11760	1995/6747	665/2248	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33739711	A A	G G	synonymous_variant synonymous_variant	LOW	HG02257.hp2 HG02258.hp1 HG02630.hp1 others(5): Show HG02257.hp2 HG02258.hp1 HG02630.hp1 HG02965.hp1 HG03098.hp2 HG03471.hp2 HG03486.hp2 NA19030.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0024 a0003c0003t0031 a0003c0003t0059 others(5): Show a0003c0003t0024 a0003c0003t0031 a0003c0003t0059 a0003c0003t0066 a0003c0003t0069 a0003c0003t0073 a0003c0003t0074 a0003c0003t0079	a0003c0003t0024g0021 a0003c0003t0031g0174 a0003c0003t0059g0005 others(5): Show a0003c0003t0024g0021 a0003c0003t0031g0174 a0003c0003t0059g0005 a0003c0003t0066g0216 a0003c0003t0069g0010 a0003c0003t0073g0009 a0003c0003t0074g0173 a0003c0003t0079g0007	8	220	0.0364	c.230 others(4): Show c.2307A>G	p.Arg others(6): Show p.Arg769Arg	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	11/12	2720/11760	2307/6747	769/2248	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33739915	C C	T T	synonymous_variant synonymous_variant	LOW	HG02145.hp2 HG02647.hp1 HG02723.hp1 others(7): Show HG02145.hp2 HG02647.hp1 HG02723.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG03225.hp2 HG03579.hp1 HG06807.hp2	a0002 a0005 a0009 others(1): Show a0002 a0005 a0009 a0010	a0002c0006 a0005c0024 a0009c0023 others(1): Show a0002c0006 a0005c0024 a0009c0023 a0010c0022	a0002c0006t0009 a0002c0006t0023 a0002c0006t0036 others(3): Show a0002c0006t0009 a0002c0006t0023 a0002c0006t0036 a0005c0024t0007 a0009c0023t0050 a0010c0022t0035	a0002c0006t0009g0030 a0002c0006t0009g0031 a0002c0006t0009g0032 others(7): Show a0002c0006t0009g0030 a0002c0006t0009g0031 a0002c0006t0009g0032 a0002c0006t0009g0033 a0002c0006t0009g0037 a0002c0006t0023g0027 a0002c0006t0036g0100 a0005c0024t0007g0028 a0009c0023t0050g0115 a0010c0022t0035g0117	10	220	0.0455	c.251 others(4): Show c.2511C>T	p.Thr others(6): Show p.Thr837Thr	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	11/12	2924/11760	2511/6747	837/2248	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33739987	A A	T T	synonymous_variant synonymous_variant	LOW	HG02818.hp1 HG06807.hp2 HG02818.hp1 HG06807.hp2	a0009 a0010 a0009 a0010	a0009c0023 a0010c0022 a0009c0023 a0010c0022	a0009c0023t0050 a0010c0022t0035 a0009c0023t0050 a0010c0022t0035	a0009c0023t0050g0115 a0010c0022t0035g0117 a0009c0023t0050g0115 a0010c0022t0035g0117	2	220	0.0091	c.258 others(4): Show c.2583A>T	p.Ile others(6): Show p.Ile861Ile	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	11/12	2996/11760	2583/6747	861/2248	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33743313	G G	A A	synonymous_variant synonymous_variant	LOW	HG02723.hp2 HG02895.hp1 HG02723.hp2 HG02895.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0025 a0001c0008t0081 a0001c0008t0025 a0001c0008t0081	a0001c0008t0025g0026 a0001c0008t0081g0220 a0001c0008t0025g0026 a0001c0008t0081g0220	2	220	0.0091	c.346 others(4): Show c.3465G>A	p.Ser others(7): Show p.Ser1155Ser	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	12/12	3878/11760	3465/6747	1155/2248	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33744087	C C	T T	synonymous_variant synonymous_variant	LOW	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0155 a0001c0020t0001g0155	1	220	0.0046	c.423 others(4): Show c.4239C>T	p.Val others(7): Show p.Val1413Val	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	12/12	4652/11760	4239/6747	1413/2248	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33744597	A A	G G	synonymous_variant synonymous_variant	LOW	NA19030.hp2 NA19030.hp2	a0016 a0016	a0016c0026 a0016c0026	a0016c0026t0052 a0016c0026t0052	a0016c0026t0052g0044 a0016c0026t0052g0044	1	220	0.0046	c.474 others(4): Show c.4749A>G	p.Ala others(7): Show p.Ala1583Ala	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	12/12	5162/11760	4749/6747	1583/2248	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33744768	G G	A A	synonymous_variant synonymous_variant	LOW	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0046 a0002c0013t0046	a0002c0013t0046g0079 a0002c0013t0046g0079	1	220	0.0046	c.492 others(4): Show c.4920G>A	p.Lys others(7): Show p.Lys1640Lys	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	12/12	5333/11760	4920/6747	1640/2248	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33744954	A A	G G	synonymous_variant synonymous_variant	LOW	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0070 a0001c0018t0001g0070	1	220	0.0046	c.510 others(4): Show c.5106A>G	p.Val others(7): Show p.Val1702Val	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	12/12	5519/11760	5106/6747	1702/2248	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33745779	T T	A A	synonymous_variant synonymous_variant	LOW	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0062 a0001c0016t0062	a0001c0016t0062g0200 a0001c0016t0062g0200	1	220	0.0046	c.593 others(4): Show c.5931T>A	p.Leu others(7): Show p.Leu1977Leu	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	12/12	6344/11760	5931/6747	1977/2248	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33745839	A A	G G	synonymous_variant synonymous_variant	LOW	HG02723.hp2 HG02895.hp1 HG03209.hp1 HG02723.hp2 HG02895.hp1 HG03209.hp1	a0001 a0001	a0001c0008 a0001c0017 a0001c0008 a0001c0017	a0001c0008t0025 a0001c0008t0081 a0001c0017t0076 a0001c0008t0025 a0001c0008t0081 a0001c0017t0076	a0001c0008t0025g0026 a0001c0008t0081g0220 a0001c0017t0076g0175 a0001c0008t0025g0026 a0001c0008t0081g0220 a0001c0017t0076g0175	3	220	0.0136	c.599 others(4): Show c.5991A>G	p.Lys others(7): Show p.Lys1997Lys	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	12/12	6404/11760	5991/6747	1997/2248	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33746451	C C	T T	synonymous_variant synonymous_variant	LOW	HG00558.hp2 HG00621.hp2 NA18998.hp2 others(4): Show HG00558.hp2 HG00621.hp2 NA18998.hp2 NA18999.hp2 NA19054.hp2 NA19057.hp1 NA19065.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0017 a0001c0005t0056 a0001c0005t0004 a0001c0005t0017 a0001c0005t0056	a0001c0005t0004g0001 a0001c0005t0004g0062 a0001c0005t0004g0163 others(4): Show a0001c0005t0004g0001 a0001c0005t0004g0062 a0001c0005t0004g0163 a0001c0005t0004g0164 a0001c0005t0004g0166 a0001c0005t0017g0205 a0001c0005t0056g0063	7	220	0.0318	c.660 others(4): Show c.6603C>T	p.Ala others(7): Show p.Ala2201Ala	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	12/12	7016/11760	6603/6747	2201/2248	chr18	TogoVar
ASZ1_chr7_117358222_117432493	117426924	C C	T T	synonymous_variant synonymous_variant	LOW	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0002 a0001c0003t0001g0002	2	306	0.0065	c.117 others(3): Show c.117G>A	p.Arg others(5): Show p.Arg39Arg	ASZ1	ENSG00000154438.8	transcript	ENST00000284629.7	protein_coding	2/13	150/1835	117/1428	39/475	chr7	TogoVar
ATAD1_chr10_87746512_87823226	87776354	G G	C C	synonymous_variant synonymous_variant	LOW	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0030 a0001c0004t0009g0030	1	360	0.0028	c.657 others(3): Show c.657C>G	p.Leu others(6): Show p.Leu219Leu	ATAD1	ENSG00000138138.14	transcript	ENST00000680024.1	protein_coding	6/10	730/4334	657/1086	219/361	chr10	TogoVar
ATAD2B_chr2_23743664_23932123	23823262	T T	C C	synonymous_variant synonymous_variant	LOW	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0079 a0001c0015t0002g0079	1	246	0.0041	c.212 others(4): Show c.2127A>G	p.Lys others(6): Show p.Lys709Lys	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	16/28	2480/8112	2127/4377	709/1458	chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23823556	G G	A A	synonymous_variant synonymous_variant	LOW	HG00738.hp2 HG01070.hp1 HG01123.hp2 others(1): Show HG00738.hp2 HG01070.hp1 HG01123.hp2 HG03654.hp2	a0001 a0001	a0001c0006 a0001c0016 a0001c0006 a0001c0016	a0001c0006t0001 a0001c0016t0001 a0001c0006t0001 a0001c0016t0001	a0001c0006t0001g0168 a0001c0006t0001g0180 a0001c0006t0001g0181 others(1): Show a0001c0006t0001g0168 a0001c0006t0001g0180 a0001c0006t0001g0181 a0001c0016t0001g0178	4	246	0.0163	c.183 others(4): Show c.1833C>T	p.Ala others(6): Show p.Ala611Ala	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	16/28	2186/8112	1833/4377	611/1458	chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23884829	T T	G G	synonymous_variant synonymous_variant	LOW	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0178 a0001c0016t0001g0178	1	246	0.0041	c.720 others(3): Show c.720A>C	p.Ser others(6): Show p.Ser240Ser	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	6/28	1073/8112	720/4377	240/1458	chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23885811	T T	C C	synonymous_variant synonymous_variant	LOW	HG01358.hp1 HG02970.hp2 HG03195.hp1 others(2): Show HG01358.hp1 HG02970.hp2 HG03195.hp1 HG03225.hp1 HG03540.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0166 a0001c0004t0001g0170 a0001c0004t0001g0171 others(2): Show a0001c0004t0001g0166 a0001c0004t0001g0170 a0001c0004t0001g0171 a0001c0004t0001g0192 a0001c0004t0001g0220	5	246	0.0203	c.591 others(3): Show c.591A>G	p.Leu others(6): Show p.Leu197Leu	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	5/28	944/8112	591/4377	197/1458	chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23926569	G G	A A	synonymous_variant synonymous_variant	LOW	HG00735.hp1 HG00741.hp2 HG01074.hp2 others(18): Show HG00735.hp1 HG00741.hp2 HG01074.hp2 HG01243.hp1 HG01257.hp2 HG01433.hp1 HG02080.hp2 HG02129.hp2 HG02135.hp1 HG02165.hp1 HG02486.hp2 HG02818.hp1 HG02886.hp1 HG03490.hp1 HG03492.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp1 NA18986.hp2 NA19086.hp2 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 others(1): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0002t0012	a0001c0002t0001g0238 a0001c0002t0003g0225 a0001c0002t0003g0226 others(18): Show a0001c0002t0001g0238 a0001c0002t0003g0225 a0001c0002t0003g0226 a0001c0002t0003g0227 a0001c0002t0003g0228 a0001c0002t0003g0229 a0001c0002t0003g0230 a0001c0002t0003g0231 a0001c0002t0003g0232 a0001c0002t0003g0234 a0001c0002t0003g0235 a0001c0002t0003g0236 a0001c0002t0003g0237 a0001c0002t0003g0239 a0001c0002t0003g0240 a0001c0002t0003g0241 a0001c0002t0003g0242 a0001c0002t0003g0245 a0001c0002t0007g0243 a0001c0002t0007g0244 a0001c0002t0012g0233	21	246	0.0854	c.202 others(3): Show c.202C>T	p.Leu others(5): Show p.Leu68Leu	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	1/28	555/8112	202/4377	68/1458	chr2	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)