Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
AFF3_chr2_99540419_100147590	99601618	G G	A A	synonymous_variant synonymous_variant	LOW	HG00609.hp1 HG00639.hp2 HG00738.hp1 others(9): Show HG00609.hp1 HG00639.hp2 HG00738.hp1 HG01106.hp2 HG02293.hp2 HG02486.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp1 NA18971.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0001 a0006	a0001c0003 a0006c0012 a0001c0003 a0006c0012	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(3): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0006 a0001c0003t0034 a0006c0012t0032	a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0067 others(9): Show a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0067 a0001c0003t0001g0073 a0001c0003t0002g0043 a0001c0003t0002g0064 a0001c0003t0003g0026 a0001c0003t0003g0046 a0001c0003t0006g0063 a0001c0003t0006g0089 a0001c0003t0034g0072 a0006c0012t0032g0090	12	100	0.1200	c.118 others(4): Show c.1188C>T	p.Ala others(6): Show p.Ala396Ala	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	14/25	1522/10070	1188/3681	396/1226	chr2	TogoVar
AFF3_chr2_99540419_100147590	100006668	G G	A A	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG01261.hp1 HG01358.hp1 others(5): Show HG00099.hp2 HG01261.hp1 HG01358.hp1 HG02559.hp2 HG02647.hp1 HG02809.hp2 HG02976.hp1 HG03834.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0013 a0001c0005 a0002c0013	a0001c0005t0001 a0001c0005t0003 a0001c0005t0004 others(4): Show a0001c0005t0001 a0001c0005t0003 a0001c0005t0004 a0001c0005t0005 a0001c0005t0009 a0001c0005t0027 a0002c0013t0019	a0001c0005t0001g0070 a0001c0005t0003g0071 a0001c0005t0004g0083 others(5): Show a0001c0005t0001g0070 a0001c0005t0003g0071 a0001c0005t0004g0083 a0001c0005t0004g0086 a0001c0005t0005g0092 a0001c0005t0009g0016 a0001c0005t0027g0085 a0002c0013t0019g0014	8	100	0.0800	c.837 others(3): Show c.837C>T	p.Ala others(6): Show p.Ala279Ala	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	7/25	1171/10070	837/3681	279/1226	chr2	TogoVar
AFF3_chr2_99540419_100147590	100006824	G G	A A	synonymous_variant synonymous_variant	LOW	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0004 a0001c0014t0004	a0001c0014t0004g0099 a0001c0014t0004g0099	1	100	0.0100	c.681 others(3): Show c.681C>T	p.Val others(6): Show p.Val227Val	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	7/25	1015/10070	681/3681	227/1226	chr2	TogoVar
AFF3_chr2_99540419_100147590	100006932	C C	T T	synonymous_variant synonymous_variant	LOW	HG02055.hp2 HG02559.hp1 HG02809.hp1 others(9): Show HG02055.hp2 HG02559.hp1 HG02809.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp1 NA19043.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0007 a0001c0004 a0002c0007	a0001c0004t0004 a0001c0004t0005 a0001c0004t0007 others(6): Show a0001c0004t0004 a0001c0004t0005 a0001c0004t0007 a0001c0004t0014 a0001c0004t0020 a0001c0004t0029 a0002c0007t0001 a0002c0007t0006 a0002c0007t0008	a0001c0004t0004g0097 a0001c0004t0005g0094 a0001c0004t0007g0093 others(9): Show a0001c0004t0004g0097 a0001c0004t0005g0094 a0001c0004t0007g0093 a0001c0004t0007g0095 a0001c0004t0007g0096 a0001c0004t0014g0004 a0001c0004t0020g0011 a0001c0004t0029g0098 a0002c0007t0001g0060 a0002c0007t0006g0081 a0002c0007t0008g0006 a0002c0007t0008g0007	12	100	0.1200	c.573 others(3): Show c.573G>A	p.Val others(6): Show p.Val191Val	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	7/25	907/10070	573/3681	191/1226	chr2	TogoVar
AFF3_chr2_99540419_100147590	100007266	C C	T T	synonymous_variant synonymous_variant	LOW	HG02258.hp2 HG02615.hp2 HG03471.hp1 HG02258.hp2 HG02615.hp2 HG03471.hp1	a0001 a0004 a0001 a0004	a0001c0008 a0004c0010 a0001c0008 a0004c0010	a0001c0008t0005 a0004c0010t0005 a0001c0008t0005 a0004c0010t0005	a0001c0008t0005g0079 a0001c0008t0005g0091 a0004c0010t0005g0074 a0001c0008t0005g0079 a0001c0008t0005g0091 a0004c0010t0005g0074	3	100	0.0300	c.369 others(3): Show c.369G>A	p.Ser others(6): Show p.Ser123Ser	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	6/25	703/10070	369/3681	123/1226	chr2	TogoVar
AFF4_chr5_132870395_132968634	132887526	T T	C C	synonymous_variant synonymous_variant	LOW	NA18961.hp2 NA18986.hp1 NA18990.hp2 NA18961.hp2 NA18986.hp1 NA18990.hp2	a0001 a0001	a0001c0007 a0001c0014 a0001c0007 a0001c0014	a0001c0007t0028 a0001c0007t0029 a0001c0014t0002 a0001c0007t0028 a0001c0007t0029 a0001c0014t0002	a0001c0007t0028g0300 a0001c0007t0029g0123 a0001c0014t0002g0297 a0001c0007t0028g0300 a0001c0007t0029g0123 a0001c0014t0002g0297	3	392	0.0077	c.300 others(4): Show c.3000A>G	p.Val others(7): Show p.Val1000Val	AFF4	ENSG00000072364.13	transcript	ENST00000265343.10	protein_coding	17/21	3380/9536	3000/3492	1000/1163	chr5	TogoVar
AFF4_chr5_132870395_132968634	132887887	T T	C C	synonymous_variant synonymous_variant	LOW	HG02145.hp1 HG02809.hp2 HG02886.hp2 others(2): Show HG02145.hp1 HG02809.hp2 HG02886.hp2 HG03139.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0385 a0001c0003t0010g0386 a0001c0003t0010g0387 others(2): Show a0001c0003t0010g0385 a0001c0003t0010g0386 a0001c0003t0010g0387 a0001c0003t0010g0388 a0001c0003t0010g0389	5	392	0.0128	c.289 others(4): Show c.2892A>G	p.Lys others(6): Show p.Lys964Lys	AFF4	ENSG00000072364.13	transcript	ENST00000265343.10	protein_coding	16/21	3272/9536	2892/3492	964/1163	chr5	TogoVar
AFF4_chr5_132870395_132968634	132896623	G G	A A	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00323.hp1 HG00544.hp1 others(41): Show HG00099.hp1 HG00323.hp1 HG00544.hp1 HG00621.hp2 HG00639.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01517.hp1 HG01993.hp2 HG02083.hp1 HG02486.hp1 HG02735.hp2 HG03239.hp1 HG03491.hp2 HG03654.hp1 HG03669.hp2 HG03710.hp2 HG03834.hp2 HG04184.hp1 NA18939.hp1 NA18942.hp2 NA18953.hp1 NA18960.hp1 NA18968.hp2 NA18977.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA19006.hp2 NA19010.hp2 NA19012.hp2 NA19057.hp2 NA19063.hp1 NA19079.hp2 NA19082.hp2 NA19085.hp1 NA19240.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0002 a0004c0012 a0005c0011 a0001c0002 a0004c0012 a0005c0011	a0001c0002t0003 a0001c0002t0014 a0001c0002t0022 others(2): Show a0001c0002t0003 a0001c0002t0014 a0001c0002t0022 a0004c0012t0003 a0005c0011t0003	a0001c0002t0003g0191 a0001c0002t0003g0192 a0001c0002t0003g0328 others(41): Show a0001c0002t0003g0191 a0001c0002t0003g0192 a0001c0002t0003g0328 a0001c0002t0003g0329 a0001c0002t0003g0330 a0001c0002t0003g0332 a0001c0002t0003g0333 a0001c0002t0003g0334 a0001c0002t0003g0335 a0001c0002t0003g0336 a0001c0002t0003g0337 a0001c0002t0003g0338 a0001c0002t0003g0340 a0001c0002t0003g0341 a0001c0002t0003g0342 a0001c0002t0003g0343 a0001c0002t0003g0344 a0001c0002t0003g0345 a0001c0002t0003g0346 a0001c0002t0003g0347 a0001c0002t0003g0348 a0001c0002t0003g0349 a0001c0002t0003g0350 a0001c0002t0003g0351 a0001c0002t0003g0352 a0001c0002t0003g0353 a0001c0002t0003g0354 a0001c0002t0003g0355 a0001c0002t0003g0356 a0001c0002t0003g0357 a0001c0002t0003g0358 a0001c0002t0003g0359 a0001c0002t0003g0360 a0001c0002t0003g0361 a0001c0002t0003g0362 a0001c0002t0003g0363 a0001c0002t0003g0364 a0001c0002t0003g0365 a0001c0002t0003g0366 a0001c0002t0014g0003 a0001c0002t0014g0004 a0001c0002t0022g0331 a0004c0012t0003g0339 a0005c0011t0003g0367	44	392	0.1122	c.200 others(4): Show c.2007C>T	p.Pro others(6): Show p.Pro669Pro	AFF4	ENSG00000072364.13	transcript	ENST00000265343.10	protein_coding	11/21	2387/9536	2007/3492	669/1163	chr5	TogoVar
AFF4_chr5_132870395_132968634	132896635	A A	G G	synonymous_variant synonymous_variant	LOW	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0201 a0001c0009t0005g0201	1	392	0.0026	c.199 others(4): Show c.1995T>C	p.Thr others(6): Show p.Thr665Thr	AFF4	ENSG00000072364.13	transcript	ENST00000265343.10	protein_coding	11/21	2375/9536	1995/3492	665/1163	chr5	TogoVar
AFF4_chr5_132870395_132968634	132934246	C C	T T	synonymous_variant synonymous_variant	LOW	HG00639.hp2 HG01169.hp2 HG00639.hp2 HG01169.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0304 a0001c0006t0006g0305 a0001c0006t0006g0304 a0001c0006t0006g0305	2	392	0.0051	c.819 others(3): Show c.819G>A	p.Glu others(6): Show p.Glu273Glu	AFF4	ENSG00000072364.13	transcript	ENST00000265343.10	protein_coding	3/21	1199/9536	819/3492	273/1163	chr5	TogoVar
AFF4_chr5_132870395_132968634	132934255	C C	T T	synonymous_variant synonymous_variant	LOW	HG01496.hp2 HG01891.hp1 HG03195.hp1 others(2): Show HG01496.hp2 HG01891.hp1 HG03195.hp1 HG03471.hp2 HG03579.hp2	a0001 a0008 a0001 a0008	a0001c0005 a0008c0015 a0001c0005 a0008c0015	a0001c0005t0001 a0001c0005t0006 a0001c0005t0012 others(1): Show a0001c0005t0001 a0001c0005t0006 a0001c0005t0012 a0008c0015t0006	a0001c0005t0001g0178 a0001c0005t0006g0322 a0001c0005t0012g0324 others(2): Show a0001c0005t0001g0178 a0001c0005t0006g0322 a0001c0005t0012g0324 a0001c0005t0012g0325 a0008c0015t0006g0326	5	392	0.0128	c.810 others(3): Show c.810G>A	p.Leu others(6): Show p.Leu270Leu	AFF4	ENSG00000072364.13	transcript	ENST00000265343.10	protein_coding	3/21	1190/9536	810/3492	270/1163	chr5	TogoVar
AFF4_chr5_132870395_132968634	132934288	G G	A A	synonymous_variant synonymous_variant	LOW	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0297 a0001c0014t0002g0297	1	392	0.0026	c.777 others(3): Show c.777C>T	p.Pro others(6): Show p.Pro259Pro	AFF4	ENSG00000072364.13	transcript	ENST00000265343.10	protein_coding	3/21	1157/9536	777/3492	259/1163	chr5	TogoVar
AFG3L2_chr18_12323944_12382227	12348286	T T	C C	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(217): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18990.hp2 NA18993.hp2 NA18998.hp1 NA19000.hp1 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19068.hp1 NA19070.hp1 NA19077.hp2 NA19081.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0008 a0001c0005t0001 a0001c0007t0001 a0002c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(199): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0271 a0001c0001t0001g0287 a0001c0001t0001g0331 a0001c0001t0001g0343 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0002g0059 a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0095 a0001c0001t0004g0021 a0001c0001t0004g0030 a0001c0001t0004g0074 a0001c0001t0004g0101 a0001c0001t0006g0206 a0001c0001t0006g0238 a0001c0001t0007g0020 a0001c0001t0009g0107 a0001c0003t0001g0265 a0001c0003t0001g0326 a0001c0003t0001g0327 a0001c0003t0001g0328 a0001c0003t0002g0080 a0001c0003t0002g0081 a0001c0003t0002g0082 a0001c0003t0002g0083 a0001c0003t0002g0084 a0001c0003t0002g0085 a0001c0003t0002g0086 a0001c0003t0002g0087 a0001c0003t0002g0088 a0001c0003t0002g0089 a0001c0003t0002g0090 a0001c0003t0002g0091 a0001c0003t0002g0092 a0001c0003t0002g0093 a0001c0003t0002g0094 a0001c0003t0003g0306 a0001c0003t0004g0057 a0001c0003t0004g0058 a0001c0003t0004g0060 a0001c0003t0004g0061 a0001c0003t0004g0064 a0001c0003t0005g0017 a0001c0003t0005g0018 a0001c0003t0008g0079 a0001c0005t0001g0170 a0001c0007t0001g0199 a0002c0004t0001g0015	220	376	0.5851	c.165 others(4): Show c.1650A>G	p.Glu others(6): Show p.Glu550Glu	AFG3L2	ENSG00000141385.12	transcript	ENST00000269143.8	protein_coding	13/17	1795/3160	1650/2394	550/797	chr18	TogoVar
AFG3L2_chr18_12323944_12382227	12351343	C C	T T	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(187): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18990.hp2 NA18993.hp2 NA18998.hp1 NA19000.hp1 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19057.hp2 NA19058.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19068.hp1 NA19070.hp1 NA19077.hp2 NA19081.hp1 NA19240.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0007 others(1): Show a0001c0001 a0001c0005 a0001c0007 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0005t0001 a0001c0007t0001 a0002c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(171): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0271 a0001c0001t0001g0287 a0001c0001t0001g0331 a0001c0001t0001g0343 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0002g0059 a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0095 a0001c0001t0004g0021 a0001c0001t0004g0030 a0001c0001t0004g0074 a0001c0001t0004g0101 a0001c0001t0006g0206 a0001c0001t0006g0238 a0001c0001t0007g0020 a0001c0001t0009g0107 a0001c0005t0001g0170 a0001c0007t0001g0199 a0002c0004t0001g0015	190	376	0.5053	c.138 others(4): Show c.1389G>A	p.Leu others(6): Show p.Leu463Leu	AFG3L2	ENSG00000141385.12	transcript	ENST00000269143.8	protein_coding	11/17	1534/3160	1389/2394	463/797	chr18	TogoVar
AFG3L2_chr18_12323944_12382227	12358796	C C	T T	synonymous_variant synonymous_variant	LOW	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0170 a0001c0005t0001g0170	1	376	0.0027	c.900 others(3): Show c.900G>A	p.Lys others(6): Show p.Lys300Lys	AFG3L2	ENSG00000141385.12	transcript	ENST00000269143.8	protein_coding	8/17	1045/3160	900/2394	300/797	chr18	TogoVar
AFG3L2_chr18_12323944_12382227	12367019	G G	A A	synonymous_variant synonymous_variant	LOW	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0199 a0001c0007t0001g0199	1	376	0.0027	c.498 others(3): Show c.498C>T	p.Ser others(6): Show p.Ser166Ser	AFG3L2	ENSG00000141385.12	transcript	ENST00000269143.8	protein_coding	5/17	643/3160	498/2394	166/797	chr18	TogoVar
AFMID_chr17_78182362_78212702	78202506	A A	G G	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00639.hp2 HG00733.hp1 others(17): Show HG00099.hp2 HG00639.hp2 HG00733.hp1 HG01069.hp1 HG01071.hp2 HG01168.hp2 HG01175.hp1 HG01256.hp1 HG01258.hp1 HG01361.hp2 HG01993.hp2 HG02451.hp1 HG02602.hp1 HG02735.hp1 HG03453.hp1 HG03490.hp2 HG03704.hp1 HG04184.hp2 HG04204.hp2 NA20129.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0007 a0003c0003 a0006c0008 a0001c0007 a0003c0003 a0006c0008	a0001c0007t0001 a0001c0007t0018 a0003c0003t0001 others(9): Show a0001c0007t0001 a0001c0007t0018 a0003c0003t0001 a0003c0003t0002 a0003c0003t0005 a0003c0003t0013 a0003c0003t0020 a0003c0003t0027 a0003c0003t0037 a0006c0008t0001 a0006c0008t0013 a0006c0008t0036	a0001c0007t0001g0177 a0001c0007t0001g0208 a0001c0007t0001g0289 others(17): Show a0001c0007t0001g0177 a0001c0007t0001g0208 a0001c0007t0001g0289 a0001c0007t0018g0390 a0003c0003t0001g0246 a0003c0003t0002g0028 a0003c0003t0005g0028 a0003c0003t0005g0212 a0003c0003t0005g0247 a0003c0003t0005g0286 a0003c0003t0013g0262 a0003c0003t0013g0272 a0003c0003t0020g0255 a0003c0003t0020g0256 a0003c0003t0020g0265 a0003c0003t0027g0290 a0003c0003t0037g0273 a0006c0008t0001g0354 a0006c0008t0013g0376 a0006c0008t0036g0353	20	446	0.0448	c.162 others(3): Show c.162A>G	p.Thr others(5): Show p.Thr54Thr	AFMID	ENSG00000183077.16	transcript	ENST00000409257.10	protein_coding	3/11	171/1686	162/912	54/303	chr17	TogoVar
AFMID_chr17_78182362_78212702	78202596	G G	A A	synonymous_variant synonymous_variant	LOW	HG01943.hp2 HG01978.hp1 NA18953.hp1 others(2): Show HG01943.hp2 HG01978.hp1 NA18953.hp1 NA18961.hp2 NA19060.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003	a0001c0005t0001g0018 a0001c0005t0001g0174 a0001c0005t0002g0283 others(2): Show a0001c0005t0001g0018 a0001c0005t0001g0174 a0001c0005t0002g0283 a0001c0005t0003g0207 a0001c0005t0003g0278	5	446	0.0112	c.252 others(3): Show c.252G>A	p.Ser others(5): Show p.Ser84Ser	AFMID	ENSG00000183077.16	transcript	ENST00000409257.10	protein_coding	3/11	261/1686	252/912	84/303	chr17	TogoVar
AFMID_chr17_78182362_78212702	78204725	C C	T T	synonymous_variant synonymous_variant	LOW	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0007 a0001c0014t0007	a0001c0014t0007g0301 a0001c0014t0007g0301	1	446	0.0022	c.378 others(3): Show c.378C>T	p.Tyr others(6): Show p.Tyr126Tyr	AFMID	ENSG00000183077.16	transcript	ENST00000409257.10	protein_coding	5/11	387/1686	378/912	126/303	chr17	TogoVar
AFMID_chr17_78182362_78212702	78205105	G G	C C	synonymous_variant synonymous_variant	LOW	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0008 a0001c0010t0008	a0001c0010t0008g0078 a0001c0010t0008g0078	1	446	0.0022	c.480 others(3): Show c.480G>C	p.Leu others(6): Show p.Leu160Leu	AFMID	ENSG00000183077.16	transcript	ENST00000409257.10	protein_coding	7/11	489/1686	480/912	160/303	chr17	TogoVar
AFM_chr4_73476745_73509001	73487006	C C	T T	synonymous_variant synonymous_variant	LOW	NA18961.hp1 NA18972.hp1 NA18961.hp1 NA18972.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0002 a0001c0008t0001g0081 a0001c0008t0001g0002 a0001c0008t0001g0081	2	368	0.0054	c.522 others(3): Show c.522C>T	p.Phe others(6): Show p.Phe174Phe	AFM	ENSG00000079557.5	transcript	ENST00000226355.5	protein_coding	5/15	553/1997	522/1800	174/599	chr4	TogoVar
AFM_chr4_73476745_73509001	73491958	C C	T T	synonymous_variant synonymous_variant	LOW	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0069 a0002c0015t0001g0069	1	368	0.0027	c.930 others(3): Show c.930C>T	p.Arg others(6): Show p.Arg310Arg	AFM	ENSG00000079557.5	transcript	ENST00000226355.5	protein_coding	8/15	961/1997	930/1800	310/599	chr4	TogoVar
AFP_chr4_73431221_73461174	73447476	C C	T T	synonymous_variant synonymous_variant	LOW	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0016 a0001c0016t0001g0016	1	390	0.0026	c.858 others(3): Show c.858C>T	p.Ser others(6): Show p.Ser286Ser	AFP	ENSG00000081051.8	transcript	ENST00000395792.7	protein_coding	8/15	900/2426	858/1830	286/609	chr4	TogoVar
AFP_chr4_73431221_73461174	73450660	G G	A A	synonymous_variant synonymous_variant	LOW	HG01243.hp2 HG01884.hp1 HG02451.hp1 others(12): Show HG01243.hp2 HG01884.hp1 HG02451.hp1 HG02559.hp1 HG02615.hp1 HG02723.hp2 HG02818.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03139.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0010 a0001c0003t0001g0023 others(3): Show a0001c0003t0001g0001 a0001c0003t0001g0010 a0001c0003t0001g0023 a0001c0003t0001g0034 a0001c0003t0001g0067 a0001c0003t0001g0070	15	390	0.0385	c.133 others(4): Show c.1335G>A	p.Ser others(6): Show p.Ser445Ser	AFP	ENSG00000081051.8	transcript	ENST00000395792.7	protein_coding	11/15	1377/2426	1335/1830	445/609	chr4	TogoVar
AFP_chr4_73431221_73461174	73450678	C C	T T	synonymous_variant synonymous_variant	LOW	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0001 a0001c0014t0001g0001	1	390	0.0026	c.135 others(4): Show c.1353C>T	p.Thr others(6): Show p.Thr451Thr	AFP	ENSG00000081051.8	transcript	ENST00000395792.7	protein_coding	11/15	1395/2426	1353/1830	451/609	chr4	TogoVar
AFP_chr4_73431221_73461174	73450711	C C	T T	synonymous_variant synonymous_variant	LOW	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0016 a0001c0013t0001g0016	1	390	0.0026	c.138 others(4): Show c.1386C>T	p.Cys others(6): Show p.Cys462Cys	AFP	ENSG00000081051.8	transcript	ENST00000395792.7	protein_coding	11/15	1428/2426	1386/1830	462/609	chr4	TogoVar
AFP_chr4_73431221_73461174	73452460	T T	C C	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG01192.hp2 HG02055.hp1 HG00099.hp2 HG01192.hp2 HG02055.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0002 a0001c0005t0002g0097 a0001c0005t0002g0002 a0001c0005t0002g0097	3	390	0.0077	c.148 others(4): Show c.1488T>C	p.Gly others(6): Show p.Gly496Gly	AFP	ENSG00000081051.8	transcript	ENST00000395792.7	protein_coding	12/15	1530/2426	1488/1830	496/609	chr4	TogoVar
AFP_chr4_73431221_73461174	73452613	A A	G G	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(383): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.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 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19072.hp1 NA19072.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011	a0001c0001 a0001c0003 a0001c0005 others(13): Show a0001c0001 a0001c0003 a0001c0005 a0001c0013 a0001c0014 a0001c0016 a0002c0002 a0003c0006 a0004c0007 a0005c0008 a0006c0009 a0007c0012 a0008c0015 a0009c0017 a0010c0011 a0011c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0003t0001 a0001c0005t0002 a0001c0013t0001 a0001c0014t0001 a0001c0016t0001 a0002c0002t0002 a0003c0006t0002 a0004c0007t0002 a0005c0008t0002 a0006c0009t0002 a0007c0012t0002 a0008c0015t0002 a0009c0017t0001 a0010c0011t0002 a0011c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(130): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0079 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0041 a0001c0001t0002g0052 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0112 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0003g0001 a0001c0001t0003g0061 a0001c0001t0003g0069 a0001c0001t0004g0064 a0001c0001t0004g0108 a0001c0001t0005g0009 a0001c0001t0006g0094 a0001c0003t0001g0001 a0001c0003t0001g0010 a0001c0003t0001g0023 a0001c0003t0001g0034 a0001c0003t0001g0067 a0001c0003t0001g0070 a0001c0005t0002g0002 a0001c0005t0002g0097 a0001c0013t0001g0016 a0001c0014t0001g0001 a0001c0016t0001g0016 a0002c0002t0002g0002 a0002c0002t0002g0019 a0002c0002t0002g0026 a0002c0002t0002g0036 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0066 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0099 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0120 a0003c0006t0002g0012 a0004c0007t0002g0012 a0004c0007t0002g0107 a0005c0008t0002g0078 a0005c0008t0002g0086 a0006c0009t0002g0008 a0007c0012t0002g0113 a0008c0015t0002g0081 a0009c0017t0001g0007 a0010c0011t0002g0021 a0011c0010t0001g0065	386	390	0.9897	c.164 others(4): Show c.1641A>G	p.Thr others(6): Show p.Thr547Thr	AFP	ENSG00000081051.8	transcript	ENST00000395792.7	protein_coding	12/15	1683/2426	1641/1830	547/609	chr4	TogoVar
AFTPH_chr2_64519328_64598005	64551852	T T	C C	synonymous_variant synonymous_variant	LOW	HG03486.hp2 HG03486.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0005 a0005c0008t0005	a0005c0008t0005g0279 a0005c0008t0005g0279	1	372	0.0027	c.378 others(3): Show c.378T>C	p.Asp others(6): Show p.Asp126Asp	AFTPH	ENSG00000119844.17	transcript	ENST00000409933.6	protein_coding	2/10	695/4098	378/2811	126/936	chr2	TogoVar
AFTPH_chr2_64519328_64598005	64552248	A A	T T	synonymous_variant synonymous_variant	LOW	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0161 a0001c0016t0001g0161	1	372	0.0027	c.774 others(3): Show c.774A>T	p.Ala others(6): Show p.Ala258Ala	AFTPH	ENSG00000119844.17	transcript	ENST00000409933.6	protein_coding	2/10	1091/4098	774/2811	258/936	chr2	TogoVar
AFTPH_chr2_64519328_64598005	64553010	A A	G G	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG02683.hp1 HG02723.hp2 others(1): Show HG00099.hp2 HG02683.hp1 HG02723.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0010 a0001c0005 a0002c0010	a0001c0005t0001 a0002c0010t0016 a0001c0005t0001 a0002c0010t0016	a0001c0005t0001g0122 a0001c0005t0001g0141 a0001c0005t0001g0177 others(1): Show a0001c0005t0001g0122 a0001c0005t0001g0141 a0001c0005t0001g0177 a0002c0010t0016g0317	4	372	0.0108	c.153 others(4): Show c.1536A>G	p.Gln others(6): Show p.Gln512Gln	AFTPH	ENSG00000119844.17	transcript	ENST00000409933.6	protein_coding	2/10	1853/4098	1536/2811	512/936	chr2	TogoVar
AFTPH_chr2_64519328_64598005	64592029	C C	T T	synonymous_variant synonymous_variant	LOW	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0073 a0001c0012t0004g0073	1	372	0.0027	c.280 others(4): Show c.2805C>T	p.Asp others(6): Show p.Asp935Asp	AFTPH	ENSG00000119844.17	transcript	ENST00000409933.6	protein_coding	10/10	3122/4098	2805/2811	935/936	chr2	TogoVar
AGAP1_chr2_235489043_236136793	235709225	G G	A A	synonymous_variant synonymous_variant	LOW	HG01496.hp2 HG01884.hp1 HG02109.hp1 others(18): Show HG01496.hp2 HG01884.hp1 HG02109.hp1 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02809.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp2 NA19030.hp2 NA19240.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0005 a0001c0010 others(4): Show a0001c0003 a0001c0005 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0002c0013	a0001c0003t0002 a0001c0003t0003 a0001c0003t0009 others(16): Show a0001c0003t0002 a0001c0003t0003 a0001c0003t0009 a0001c0003t0012 a0001c0003t0020 a0001c0003t0021 a0001c0003t0022 a0001c0003t0025 a0001c0003t0047 a0001c0005t0001 a0001c0005t0004 a0001c0005t0013 a0001c0005t0031 a0001c0005t0040 a0001c0010t0001 a0001c0011t0036 a0001c0012t0009 a0001c0014t0016 a0002c0013t0041	a0001c0003t0002g0005 a0001c0003t0003g0001 a0001c0003t0009g0096 others(18): Show a0001c0003t0002g0005 a0001c0003t0003g0001 a0001c0003t0009g0096 a0001c0003t0012g0066 a0001c0003t0020g0053 a0001c0003t0021g0023 a0001c0003t0022g0055 a0001c0003t0025g0015 a0001c0003t0047g0033 a0001c0005t0001g0057 a0001c0005t0004g0058 a0001c0005t0004g0088 a0001c0005t0004g0097 a0001c0005t0013g0050 a0001c0005t0031g0031 a0001c0005t0040g0006 a0001c0010t0001g0032 a0001c0011t0036g0009 a0001c0012t0009g0078 a0001c0014t0016g0048 a0002c0013t0041g0081	21	98	0.2143	c.210 others(3): Show c.210G>A	p.Pro others(5): Show p.Pro70Pro	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	2/18	854/10889	210/2574	70/857	chr2	TogoVar
AGAP1_chr2_235489043_236136793	235741027	A A	G G	synonymous_variant synonymous_variant	LOW	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0016 a0001c0014t0016	a0001c0014t0016g0048 a0001c0014t0016g0048	1	98	0.0102	c.375 others(3): Show c.375A>G	p.Glu others(6): Show p.Glu125Glu	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	4/18	1019/10889	375/2574	125/857	chr2	TogoVar
AGAP1_chr2_235489043_236136793	235741045	G G	T T	synonymous_variant synonymous_variant	LOW	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0091 a0001c0021t0002g0091	1	98	0.0102	c.393 others(3): Show c.393G>T	p.Ala others(6): Show p.Ala131Ala	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	4/18	1037/10889	393/2574	131/857	chr2	TogoVar
AGAP1_chr2_235489043_236136793	235750466	T T	C C	synonymous_variant synonymous_variant	LOW	HG02280.hp2 HG02976.hp1 HG02280.hp2 HG02976.hp1	a0001 a0001	a0001c0010 a0001c0016 a0001c0010 a0001c0016	a0001c0010t0001 a0001c0016t0007 a0001c0010t0001 a0001c0016t0007	a0001c0010t0001g0032 a0001c0016t0007g0089 a0001c0010t0001g0032 a0001c0016t0007g0089	2	98	0.0204	c.651 others(3): Show c.651T>C	p.Asn others(6): Show p.Asn217Asn	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	6/18	1295/10889	651/2574	217/857	chr2	TogoVar
AGAP1_chr2_235489043_236136793	235799445	C C	A A	synonymous_variant synonymous_variant	LOW	HG02145.hp1 HG03195.hp2 HG02145.hp1 HG03195.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0028 a0001c0008t0001 a0001c0008t0028	a0001c0008t0001g0061 a0001c0008t0028g0029 a0001c0008t0001g0061 a0001c0008t0028g0029	2	98	0.0204	c.880 others(3): Show c.880C>A	p.Arg others(6): Show p.Arg294Arg	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	8/18	1524/10889	880/2574	294/857	chr2	TogoVar
AGAP1_chr2_235489043_236136793	235799522	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00741.hp1 HG01106.hp1 HG01123.hp2 others(4): Show HG00741.hp1 HG01106.hp1 HG01123.hp2 HG01192.hp1 HG02135.hp1 NA19011.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0020 a0001c0006 a0002c0020	a0001c0006t0001 a0001c0006t0006 a0001c0006t0033 others(4): Show a0001c0006t0001 a0001c0006t0006 a0001c0006t0033 a0001c0006t0035 a0001c0006t0037 a0001c0006t0046 a0002c0020t0001	a0001c0006t0001g0016 a0001c0006t0006g0019 a0001c0006t0033g0087 others(4): Show a0001c0006t0001g0016 a0001c0006t0006g0019 a0001c0006t0033g0087 a0001c0006t0035g0044 a0001c0006t0037g0021 a0001c0006t0046g0040 a0002c0020t0001g0022	7	98	0.0714	c.957 others(3): Show c.957C>T	p.Thr others(6): Show p.Thr319Thr	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	8/18	1601/10889	957/2574	319/857	chr2	TogoVar
AGAP1_chr2_235489043_236136793	236049076	T T	C C	synonymous_variant synonymous_variant	LOW	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0008 a0001c0017t0008	a0001c0017t0008g0092 a0001c0017t0008g0092	1	98	0.0102	c.190 others(4): Show c.1909T>C	p.Leu others(6): Show p.Leu637Leu	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	16/18	2553/10889	1909/2574	637/857	chr2	TogoVar
AGAP1_chr2_235489043_236136793	236120351	C C	T T	synonymous_variant synonymous_variant	LOW	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0007 a0001c0019t0007	a0001c0019t0007g0056 a0001c0019t0007g0056	1	98	0.0102	c.227 others(4): Show c.2274C>T	p.Asp others(6): Show p.Asp758Asp	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	17/18	2918/10889	2274/2574	758/857	chr2	TogoVar
AGAP1_chr2_235489043_236136793	236123930	C C	T T	synonymous_variant synonymous_variant	LOW	HG02280.hp1 HG02818.hp1 HG03471.hp2 HG02280.hp1 HG02818.hp1 HG03471.hp2	a0001 a0001	a0001c0009 a0001c0012 a0001c0009 a0001c0012	a0001c0009t0015 a0001c0009t0017 a0001c0012t0009 a0001c0009t0015 a0001c0009t0017 a0001c0012t0009	a0001c0009t0015g0038 a0001c0009t0017g0037 a0001c0012t0009g0078 a0001c0009t0015g0038 a0001c0009t0017g0037 a0001c0012t0009g0078	3	98	0.0306	c.238 others(4): Show c.2382C>T	p.Asp others(6): Show p.Asp794Asp	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	18/18	3026/10889	2382/2574	794/857	chr2	TogoVar
AGAP1_chr2_235489043_236136793	236123963	T T	G G	synonymous_variant synonymous_variant	LOW	HG00438.hp1 HG00438.hp2 HG00642.hp1 others(46): Show HG00438.hp1 HG00438.hp2 HG00642.hp1 HG01358.hp2 HG01884.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02280.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03831.hp1 HG03831.hp2 HG04199.hp2 NA18522.hp1 NA18906.hp1 NA19030.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0009 others(8): Show a0001c0001 a0001c0003 a0001c0009 a0001c0012 a0001c0014 a0001c0016 a0001c0017 a0001c0019 a0001c0021 a0002c0007 a0003c0015	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(34): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0019 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0044 a0001c0001t0048 a0001c0003t0002 a0001c0003t0003 a0001c0003t0009 a0001c0003t0012 a0001c0003t0020 a0001c0003t0021 a0001c0003t0022 a0001c0003t0025 a0001c0003t0047 a0001c0009t0015 a0001c0009t0017 a0001c0012t0009 a0001c0014t0016 a0001c0016t0007 a0001c0017t0008 a0001c0019t0007 a0001c0021t0002 a0002c0007t0005 a0002c0007t0008 a0002c0007t0018 a0002c0007t0023 a0003c0015t0002	a0001c0001t0002g0002 a0001c0001t0002g0046 a0001c0001t0002g0047 others(46): Show a0001c0001t0002g0002 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0060 a0001c0001t0002g0070 a0001c0001t0003g0034 a0001c0001t0003g0036 a0001c0001t0003g0063 a0001c0001t0003g0090 a0001c0001t0005g0007 a0001c0001t0005g0012 a0001c0001t0007g0008 a0001c0001t0008g0069 a0001c0001t0009g0074 a0001c0001t0010g0003 a0001c0001t0010g0014 a0001c0001t0011g0020 a0001c0001t0011g0098 a0001c0001t0012g0071 a0001c0001t0019g0065 a0001c0001t0024g0077 a0001c0001t0026g0095 a0001c0001t0027g0062 a0001c0001t0044g0041 a0001c0001t0048g0054 a0001c0003t0002g0005 a0001c0003t0003g0001 a0001c0003t0009g0096 a0001c0003t0012g0066 a0001c0003t0020g0053 a0001c0003t0021g0023 a0001c0003t0022g0055 a0001c0003t0025g0015 a0001c0003t0047g0033 a0001c0009t0015g0038 a0001c0009t0017g0037 a0001c0012t0009g0078 a0001c0014t0016g0048 a0001c0016t0007g0089 a0001c0017t0008g0092 a0001c0019t0007g0056 a0001c0021t0002g0091 a0002c0007t0005g0026 a0002c0007t0005g0094 a0002c0007t0008g0011 a0002c0007t0018g0028 a0002c0007t0023g0085 a0003c0015t0002g0075	49	98	0.5000	c.241 others(4): Show c.2415T>G	p.Ala others(6): Show p.Ala805Ala	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	18/18	3059/10889	2415/2574	805/857	chr2	TogoVar
AGAP1_chr2_235489043_236136793	236124059	T T	C C	synonymous_variant synonymous_variant	LOW	HG00438.hp1 HG00438.hp2 HG00642.hp1 others(48): Show HG00438.hp1 HG00438.hp2 HG00642.hp1 HG01358.hp2 HG01884.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02280.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03831.hp1 HG03831.hp2 HG04199.hp2 NA18522.hp1 NA18906.hp1 NA19030.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0009 others(10): Show a0001c0001 a0001c0003 a0001c0009 a0001c0011 a0001c0012 a0001c0014 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0021 a0002c0007 a0003c0015	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(36): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0019 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0044 a0001c0001t0048 a0001c0003t0002 a0001c0003t0003 a0001c0003t0009 a0001c0003t0012 a0001c0003t0020 a0001c0003t0021 a0001c0003t0022 a0001c0003t0025 a0001c0003t0047 a0001c0009t0015 a0001c0009t0017 a0001c0011t0036 a0001c0012t0009 a0001c0014t0016 a0001c0016t0007 a0001c0017t0008 a0001c0018t0049 a0001c0019t0007 a0001c0021t0002 a0002c0007t0005 a0002c0007t0008 a0002c0007t0018 a0002c0007t0023 a0003c0015t0002	a0001c0001t0002g0002 a0001c0001t0002g0046 a0001c0001t0002g0047 others(48): Show a0001c0001t0002g0002 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0060 a0001c0001t0002g0070 a0001c0001t0003g0034 a0001c0001t0003g0036 a0001c0001t0003g0063 a0001c0001t0003g0090 a0001c0001t0005g0007 a0001c0001t0005g0012 a0001c0001t0007g0008 a0001c0001t0008g0069 a0001c0001t0009g0074 a0001c0001t0010g0003 a0001c0001t0010g0014 a0001c0001t0011g0020 a0001c0001t0011g0098 a0001c0001t0012g0071 a0001c0001t0019g0065 a0001c0001t0024g0077 a0001c0001t0026g0095 a0001c0001t0027g0062 a0001c0001t0044g0041 a0001c0001t0048g0054 a0001c0003t0002g0005 a0001c0003t0003g0001 a0001c0003t0009g0096 a0001c0003t0012g0066 a0001c0003t0020g0053 a0001c0003t0021g0023 a0001c0003t0022g0055 a0001c0003t0025g0015 a0001c0003t0047g0033 a0001c0009t0015g0038 a0001c0009t0017g0037 a0001c0011t0036g0009 a0001c0012t0009g0078 a0001c0014t0016g0048 a0001c0016t0007g0089 a0001c0017t0008g0092 a0001c0018t0049g0080 a0001c0019t0007g0056 a0001c0021t0002g0091 a0002c0007t0005g0026 a0002c0007t0005g0094 a0002c0007t0008g0011 a0002c0007t0018g0028 a0002c0007t0023g0085 a0003c0015t0002g0075	51	98	0.5204	c.251 others(4): Show c.2511T>C	p.Pro others(6): Show p.Pro837Pro	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	18/18	3155/10889	2511/2574	837/857	chr2	TogoVar
AGAP2_chr12_57720197_57743742	57726675	G G	A A	synonymous_variant synonymous_variant	LOW	HG02622.hp2 HG03471.hp2 HG02622.hp2 HG03471.hp2	a0001 a0009 a0001 a0009	a0001c0019 a0009c0018 a0001c0019 a0009c0018	a0001c0019t0001 a0009c0018t0001 a0001c0019t0001 a0009c0018t0001	a0001c0019t0001g0132 a0009c0018t0001g0131 a0001c0019t0001g0132 a0009c0018t0001g0131	2	382	0.0052	c.345 others(4): Show c.3456C>T	p.Gly others(7): Show p.Gly1152Gly	AGAP2	ENSG00000135439.12	transcript	ENST00000547588.6	protein_coding	19/19	3952/5430	3456/3579	1152/1192	chr12	TogoVar
AGAP2_chr12_57720197_57743742	57727022	G G	A A	synonymous_variant synonymous_variant	LOW	HG02559.hp2 HG03453.hp2 HG02559.hp2 HG03453.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0044 a0001c0010t0003g0044	2	382	0.0052	c.328 others(4): Show c.3288C>T	p.His others(7): Show p.His1096His	AGAP2	ENSG00000135439.12	transcript	ENST00000547588.6	protein_coding	18/19	3784/5430	3288/3579	1096/1192	chr12	TogoVar
AGAP2_chr12_57720197_57743742	57728054	G G	A A	synonymous_variant synonymous_variant	LOW	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0084 a0001c0022t0001g0084	1	382	0.0026	c.264 others(4): Show c.2649C>T	p.Ser others(6): Show p.Ser883Ser	AGAP2	ENSG00000135439.12	transcript	ENST00000547588.6	protein_coding	15/19	3145/5430	2649/3579	883/1192	chr12	TogoVar
AGAP2_chr12_57720197_57743742	57731387	T T	C C	synonymous_variant synonymous_variant	LOW	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0103 a0001c0024t0001g0103	1	382	0.0026	c.212 others(4): Show c.2124A>G	p.Leu others(6): Show p.Leu708Leu	AGAP2	ENSG00000135439.12	transcript	ENST00000547588.6	protein_coding	10/19	2620/5430	2124/3579	708/1192	chr12	TogoVar
AGAP2_chr12_57720197_57743742	57731622	G G	A A	synonymous_variant synonymous_variant	LOW	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0002 a0001c0025t0002	a0001c0025t0002g0123 a0001c0025t0002g0123	1	382	0.0026	c.197 others(4): Show c.1974C>T	p.Ser others(6): Show p.Ser658Ser	AGAP2	ENSG00000135439.12	transcript	ENST00000547588.6	protein_coding	9/19	2470/5430	1974/3579	658/1192	chr12	TogoVar
AGAP2_chr12_57720197_57743742	57731923	C C	T T	synonymous_variant synonymous_variant	LOW	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0128 a0001c0021t0001g0128	1	382	0.0026	c.183 others(4): Show c.1839G>A	p.Pro others(6): Show p.Pro613Pro	AGAP2	ENSG00000135439.12	transcript	ENST00000547588.6	protein_coding	8/19	2335/5430	1839/3579	613/1192	chr12	TogoVar
AGAP2_chr12_57720197_57743742	57732451	C C	A A	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(61): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01517.hp1 HG01978.hp1 HG02015.hp2 HG02027.hp2 HG02071.hp2 HG02080.hp1 HG02129.hp2 HG02135.hp1 HG02165.hp1 HG02293.hp2 HG02602.hp2 HG02698.hp1 HG02735.hp1 HG03239.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04204.hp2 HG06807.hp1 NA18967.hp1 NA18971.hp2 NA18980.hp2 NA18983.hp1 NA19003.hp2 NA19054.hp2 NA19058.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA20300.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0002 a0002c0007 a0012c0026 a0001c0002 a0002c0007 a0012c0026	a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 others(2): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0002c0007t0001 a0012c0026t0001	a0001c0002t0001g0002 a0001c0002t0001g0019 a0001c0002t0001g0041 others(15): Show a0001c0002t0001g0002 a0001c0002t0001g0019 a0001c0002t0001g0041 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0064 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0115 a0001c0002t0001g0117 a0001c0002t0001g0125 a0001c0002t0003g0105 a0001c0002t0009g0107 a0002c0007t0001g0028 a0002c0007t0001g0059 a0012c0026t0001g0145	64	382	0.1675	c.174 others(4): Show c.1746G>T	p.Leu others(6): Show p.Leu582Leu	AGAP2	ENSG00000135439.12	transcript	ENST00000547588.6	protein_coding	7/19	2242/5430	1746/3579	582/1192	chr12	TogoVar

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