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
AHR_chr7_17293652_17351147	17339533	G G	A A	missense_variant missense_variant	MODERATE	HG00639.hp2 HG01981.hp2 HG02486.hp1 others(4): Show HG00639.hp2 HG01981.hp2 HG02486.hp1 HG02896.hp1 HG02976.hp2 NA19030.hp1 NA21309.hp1	a0003 a0007 a0008 others(1): Show a0003 a0007 a0008 a0009	a0003c0004 a0003c0012 a0007c0010 others(2): Show a0003c0004 a0003c0012 a0007c0010 a0008c0008 a0009c0009	a0003c0004t0004 a0003c0004t0012 a0003c0004t0021 others(4): Show a0003c0004t0004 a0003c0004t0012 a0003c0004t0021 a0003c0012t0012 a0007c0010t0043 a0008c0008t0012 a0009c0009t0023	a0003c0004t0004g0196 a0003c0004t0012g0116 a0003c0004t0021g0195 others(4): Show a0003c0004t0004g0196 a0003c0004t0012g0116 a0003c0004t0021g0195 a0003c0012t0012g0115 a0007c0010t0043g0110 a0008c0008t0012g0123 a0009c0009t0023g0049	7	370	0.0189	c.170 others(4): Show c.1708G>A	p.Val others(6): Show p.Val570Ile	AHR	ENSG00000106546.14	transcript	ENST00000242057.9	protein_coding	10/11	2321/6243	1708/2547	570/848	chr7	TogoVar
AHR_chr7_17293652_17351147	17340181	A A	G G	missense_variant missense_variant	MODERATE	HG01081.hp1 HG01978.hp1 HG01081.hp1 HG01978.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0046 a0005c0005t0003g0046	2	370	0.0054	c.235 others(4): Show c.2356A>G	p.Met others(6): Show p.Met786Val	AHR	ENSG00000106546.14	transcript	ENST00000242057.9	protein_coding	10/11	2969/6243	2356/2547	786/848	chr7	TogoVar
AHSG_chr3_186608060_186626318	186617201	G G	T T	missense_variant missense_variant	MODERATE	NA18522.hp2 NA18522.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0067 a0006c0012t0001g0067	1	440	0.0023	c.424 others(3): Show c.424G>T	p.Val others(6): Show p.Val142Leu	AHSG	ENSG00000145192.13	transcript	ENST00000411641.7	protein_coding	4/7	506/1574	424/1104	142/367	chr3	TogoVar
AHSG_chr3_186608060_186626318	186617267	G G	A A	missense_variant missense_variant	MODERATE	HG01099.hp2 HG03490.hp1 HG03492.hp2 others(5): Show HG01099.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp2 HG04204.hp1 NA20752.hp2 NA20905.hp2	a0004 a0004	a0004c0006 a0004c0009 a0004c0006 a0004c0009	a0004c0006t0001 a0004c0009t0001 a0004c0006t0001 a0004c0009t0001	a0004c0006t0001g0002 a0004c0009t0001g0002 a0004c0006t0001g0002 a0004c0009t0001g0002	8	440	0.0182	c.490 others(3): Show c.490G>A	p.Ala others(6): Show p.Ala164Thr	AHSG	ENSG00000145192.13	transcript	ENST00000411641.7	protein_coding	4/7	572/1574	490/1104	164/367	chr3	TogoVar
AHSG_chr3_186608060_186626318	186619924	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(316): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 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.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0008 others(7): Show a0001c0001 a0001c0002 a0001c0008 a0003c0005 a0004c0006 a0004c0009 a0005c0007 a0006c0012 a0007c0011 a0008c0010	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0008t0002 a0003c0005t0001 a0004c0006t0001 a0004c0009t0001 a0005c0007t0001 a0006c0012t0001 a0007c0011t0001 a0008c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(58): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0004g0066 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0014 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0029 a0001c0002t0001g0042 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0002g0002 a0001c0002t0002g0058 a0001c0002t0006g0002 a0001c0008t0002g0002 a0003c0005t0001g0009 a0004c0006t0001g0002 a0004c0009t0001g0002 a0005c0007t0001g0027 a0005c0007t0001g0068 a0006c0012t0001g0067 a0007c0011t0001g0048 a0008c0010t0001g0001	319	440	0.7250	c.743 others(3): Show c.743T>C	p.Met others(6): Show p.Met248Thr	AHSG	ENSG00000145192.13	transcript	ENST00000411641.7	protein_coding	6/7	825/1574	743/1104	248/367	chr3	TogoVar
AHSG_chr3_186608060_186626318	186620593	G G	C C	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(308): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0008 others(6): Show a0001c0001 a0001c0002 a0001c0008 a0004c0006 a0004c0009 a0005c0007 a0006c0012 a0007c0011 a0008c0010	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0008t0002 a0004c0006t0001 a0004c0009t0001 a0005c0007t0001 a0006c0012t0001 a0007c0011t0001 a0008c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(57): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0004g0066 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0014 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0029 a0001c0002t0001g0042 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0002g0002 a0001c0002t0002g0058 a0001c0002t0006g0002 a0001c0008t0002g0002 a0004c0006t0001g0002 a0004c0009t0001g0002 a0005c0007t0001g0027 a0005c0007t0001g0068 a0006c0012t0001g0067 a0007c0011t0001g0048 a0008c0010t0001g0001	311	440	0.7068	c.767 others(3): Show c.767G>C	p.Ser others(6): Show p.Ser256Thr	AHSG	ENSG00000145192.13	transcript	ENST00000411641.7	protein_coding	7/7	849/1574	767/1104	256/367	chr3	TogoVar
AHSG_chr3_186608060_186626318	186620652	G G	A A	missense_variant missense_variant	MODERATE	NA19058.hp2 NA19058.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0001 a0008c0010t0001g0001	1	440	0.0023	c.826 others(3): Show c.826G>A	p.Asp others(6): Show p.Asp276Asn	AHSG	ENSG00000145192.13	transcript	ENST00000411641.7	protein_coding	7/7	908/1574	826/1104	276/367	chr3	TogoVar
AHSG_chr3_186608060_186626318	186620775	C C	T T	missense_variant missense_variant	MODERATE	HG01081.hp2 HG01081.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0048 a0007c0011t0001g0048	1	440	0.0023	c.949 others(3): Show c.949C>T	p.Arg others(6): Show p.Arg317Cys	AHSG	ENSG00000145192.13	transcript	ENST00000411641.7	protein_coding	7/7	1031/1574	949/1104	317/367	chr3	TogoVar
AHSG_chr3_186608060_186626318	186620845	G G	A A	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03195.hp2 HG03453.hp1 HG02630.hp2 HG03195.hp2 HG03453.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0027 a0005c0007t0001g0068 a0005c0007t0001g0027 a0005c0007t0001g0068	3	440	0.0068	c.101 others(4): Show c.1019G>A	p.Arg others(6): Show p.Arg340His	AHSG	ENSG00000145192.13	transcript	ENST00000411641.7	protein_coding	7/7	1101/1574	1019/1104	340/367	chr3	TogoVar
AHSP_chr16_31522900_31533803	31528680	C C	A A	missense_variant missense_variant	MODERATE	HG02486.hp1 HG02559.hp1 HG02630.hp1 others(2): Show HG02486.hp1 HG02559.hp1 HG02630.hp1 HG03041.hp1 NA19030.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0001 a0002c0003t0001g0001	5	388	0.0129	c.298 others(3): Show c.298C>A	p.Pro others(6): Show p.Pro100Thr	AHSP	ENSG00000169877.10	transcript	ENST00000302312.9	protein_coding	3/3	365/488	298/309	100/102	chr16	TogoVar
AICDA_chr12_8597170_8617859	8605343	C C	G G	missense_variant missense_variant	MODERATE	HG02055.hp2 HG02615.hp2 HG02055.hp2 HG02615.hp2	a0007 a0008 a0007 a0008	a0007c0010 a0008c0011 a0007c0010 a0008c0011	a0007c0010t0003 a0008c0011t0003 a0007c0010t0003 a0008c0011t0003	a0007c0010t0003g0144 a0008c0011t0003g0146 a0007c0010t0003g0144 a0008c0011t0003g0146	2	458	0.0044	c.299 others(3): Show c.299G>C	p.Gly others(6): Show p.Gly100Ala	AICDA	ENSG00000111732.12	transcript	ENST00000229335.11	protein_coding	3/5	391/2803	299/597	100/198	chr12	TogoVar
AICDA_chr12_8597170_8617859	8606914	C C	T T	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0004 a0006c0008t0004	a0006c0008t0004g0142 a0006c0008t0004g0142	1	458	0.0022	c.107 others(3): Show c.107G>A	p.Arg others(5): Show p.Arg36His	AICDA	ENSG00000111732.12	transcript	ENST00000229335.11	protein_coding	2/5	199/2803	107/597	36/198	chr12	TogoVar
AICDA_chr12_8597170_8617859	8606915	G G	A A	missense_variant missense_variant	MODERATE	HG01099.hp2 HG01099.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0211 a0005c0015t0001g0211	1	458	0.0022	c.106 others(3): Show c.106C>T	p.Arg others(5): Show p.Arg36Cys	AICDA	ENSG00000111732.12	transcript	ENST00000229335.11	protein_coding	2/5	198/2803	106/597	36/198	chr12	TogoVar
AICDA_chr12_8597170_8617859	8606939	A A	G G	missense_variant missense_variant	MODERATE	NA19007.hp1 NA19007.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0155 a0004c0007t0001g0155	1	458	0.0022	c.82T others(2): Show c.82T>C	p.Tyr others(5): Show p.Tyr28His	AICDA	ENSG00000111732.12	transcript	ENST00000229335.11	protein_coding	2/5	174/2803	82/597	28/198	chr12	TogoVar
AICDA_chr12_8597170_8617859	8606947	C C	T T	missense_variant missense_variant	MODERATE	HG02965.hp1 HG02965.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0010 a0003c0006t0010	a0003c0006t0010g0068 a0003c0006t0010g0068	1	458	0.0022	c.74G others(2): Show c.74G>A	p.Arg others(5): Show p.Arg25His	AICDA	ENSG00000111732.12	transcript	ENST00000229335.11	protein_coding	2/5	166/2803	74/597	25/198	chr12	TogoVar
AIDA_chr1_222663013_222717491	222686944	G G	T T	missense_variant missense_variant	MODERATE	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0194 a0002c0003t0001g0194	1	368	0.0027	c.446 others(3): Show c.446C>A	p.Pro others(6): Show p.Pro149His	AIDA	ENSG00000186063.13	transcript	ENST00000340020.11	protein_coding	6/10	620/2975	446/921	149/306	chr1	TogoVar
AIF1_chr6_31610234_31622015	31615535	G G	A A	missense_variant missense_variant	MODERATE	HG00408.hp2 HG00597.hp1 HG00621.hp1 others(53): Show HG00408.hp2 HG00597.hp1 HG00621.hp1 HG00673.hp1 HG00741.hp2 HG01074.hp2 HG01175.hp1 HG01255.hp1 HG01358.hp1 HG01891.hp1 HG01952.hp1 HG02027.hp1 HG02129.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03139.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18953.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18993.hp2 NA19003.hp2 NA19005.hp1 NA19006.hp2 NA19065.hp2 NA19072.hp1 NA19079.hp2 NA19080.hp1 NA19240.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0008 a0002c0002t0001g0002 a0002c0002t0001g0008	56	437	0.1282	c.40G others(2): Show c.40G>A	p.Gly others(5): Show p.Gly14Arg	AIF1	ENSG00000204472.13	transcript	ENST00000376059.8	protein_coding	2/6	136/655	40/444	14/147	chr6	TogoVar
AIF1_chr6_31610234_31622015	31615536	G G	C C	missense_variant missense_variant	MODERATE	HG02056.hp2 HG02056.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0005 a0003c0003t0001g0005	1	437	0.0023	c.41G others(2): Show c.41G>C	p.Gly others(5): Show p.Gly14Ala	AIF1	ENSG00000204472.13	transcript	ENST00000376059.8	protein_coding	2/6	137/655	41/444	14/147	chr6	TogoVar
AIF1_chr6_31610234_31622015	31616403	C C	A A	missense_variant missense_variant	MODERATE	HG02698.hp1 HG02698.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0006 a0004c0004t0001g0006	1	437	0.0023	c.256 others(3): Show c.256C>A	p.Leu others(5): Show p.Leu86Ile	AIF1	ENSG00000204472.13	transcript	ENST00000376059.8	protein_coding	5/6	352/655	256/444	86/147	chr6	TogoVar
AIFM1_chrX_130124362_130170841	130145495	A A	G G	missense_variant missense_variant	MODERATE	HG02280.hp1 HG02280.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0028 a0003c0009t0001g0028	1	262	0.0038	c.680 others(3): Show c.680T>C	p.Val others(6): Show p.Val227Ala	AIFM1	ENSG00000156709.15	transcript	ENST00000287295.8	protein_coding	6/16	865/2222	680/1842	227/613	chrX	TogoVar
AIFM1_chrX_130124362_130170841	130149544	C C	T T	missense_variant missense_variant	MODERATE	NA18906.hp2 NA18906.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0092 a0005c0008t0001g0092	1	262	0.0038	c.274 others(3): Show c.274G>A	p.Glu others(5): Show p.Glu92Lys	AIFM1	ENSG00000156709.15	transcript	ENST00000287295.8	protein_coding	3/16	459/2222	274/1842	92/613	chrX	TogoVar
AIFM1_chrX_130124362_130170841	130165554	G G	A A	missense_variant missense_variant	MODERATE	HG02258.hp1 HG02630.hp2 HG02258.hp1 HG02630.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0242 a0002c0005t0001g0243 a0002c0005t0001g0242 a0002c0005t0001g0243	2	262	0.0076	c.103 others(3): Show c.103C>T	p.Pro others(5): Show p.Pro35Ser	AIFM1	ENSG00000156709.15	transcript	ENST00000287295.8	protein_coding	1/16	288/2222	103/1842	35/613	chrX	TogoVar
AIFM2_chr10_70107271_70137825	70114212	G G	A A	missense_variant missense_variant	MODERATE	HG04115.hp1 HG04115.hp1	a0006 a0006	a0006c0018 a0006c0018	a0006c0018t0007 a0006c0018t0007	a0006c0018t0007g0116 a0006c0018t0007g0116	1	468	0.0021	c.108 others(4): Show c.1088C>T	p.Thr others(6): Show p.Thr363Met	AIFM2	ENSG00000042286.15	transcript	ENST00000307864.3	protein_coding	9/9	1193/3134	1088/1122	363/373	chr10	TogoVar
AIFM2_chr10_70107271_70137825	70115028	C C	T T	missense_variant missense_variant	MODERATE	HG00639.hp1 HG00642.hp2 HG01123.hp2 others(47): Show HG00639.hp1 HG00642.hp2 HG01123.hp2 HG01361.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp1 HG01981.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02071.hp2 HG02080.hp2 HG02148.hp2 HG02155.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02698.hp2 HG03688.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18951.hp1 NA18954.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18975.hp2 NA18985.hp2 NA18986.hp2 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19011.hp1 NA19064.hp1 NA19064.hp2 NA19072.hp1 NA19076.hp2 NA19077.hp1 NA19081.hp1 NA19085.hp2 NA19086.hp2 NA19091.hp1 NA20300.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0003c0017 a0004c0008 a0003c0003 a0003c0017 a0004c0008	a0003c0003t0004 a0003c0003t0012 a0003c0003t0017 others(7): Show a0003c0003t0004 a0003c0003t0012 a0003c0003t0017 a0003c0003t0030 a0003c0003t0037 a0003c0003t0051 a0003c0003t0052 a0003c0017t0004 a0004c0008t0004 a0004c0008t0012	a0003c0003t0004g0002 a0003c0003t0004g0088 a0003c0003t0004g0090 others(34): Show a0003c0003t0004g0002 a0003c0003t0004g0088 a0003c0003t0004g0090 a0003c0003t0004g0113 a0003c0003t0004g0117 a0003c0003t0004g0126 a0003c0003t0004g0129 a0003c0003t0004g0130 a0003c0003t0004g0138 a0003c0003t0004g0141 a0003c0003t0004g0143 a0003c0003t0004g0151 a0003c0003t0004g0159 a0003c0003t0004g0176 a0003c0003t0004g0195 a0003c0003t0004g0209 a0003c0003t0004g0265 a0003c0003t0004g0287 a0003c0003t0012g0019 a0003c0003t0012g0059 a0003c0003t0012g0063 a0003c0003t0017g0329 a0003c0003t0017g0335 a0003c0003t0017g0346 a0003c0003t0030g0378 a0003c0003t0030g0379 a0003c0003t0037g0055 a0003c0003t0051g0310 a0003c0003t0052g0333 a0003c0017t0004g0169 a0004c0008t0004g0023 a0004c0008t0004g0105 a0004c0008t0004g0110 a0004c0008t0004g0123 a0004c0008t0004g0137 a0004c0008t0004g0221 a0004c0008t0012g0058	50	468	0.1068	c.862 others(3): Show c.862G>A	p.Asp others(6): Show p.Asp288Asn	AIFM2	ENSG00000042286.15	transcript	ENST00000307864.3	protein_coding	8/9	967/3134	862/1122	288/373	chr10	TogoVar
AIFM2_chr10_70107271_70137825	70115096	G G	A A	missense_variant missense_variant	MODERATE	NA20905.hp1 NA20905.hp1	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0256 a0007c0016t0001g0256	1	468	0.0021	c.794 others(3): Show c.794C>T	p.Ala others(6): Show p.Ala265Val	AIFM2	ENSG00000042286.15	transcript	ENST00000307864.3	protein_coding	8/9	899/3134	794/1122	265/373	chr10	TogoVar
AIFM2_chr10_70107271_70137825	70120545	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp2 HG01256.hp2 HG00099.hp2 HG01256.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0268 a0005c0013t0001g0269 a0005c0013t0001g0268 a0005c0013t0001g0269	2	468	0.0043	c.469 others(3): Show c.469A>G	p.Met others(6): Show p.Met157Val	AIFM2	ENSG00000042286.15	transcript	ENST00000307864.3	protein_coding	5/9	574/3134	469/1122	157/373	chr10	TogoVar
AIFM2_chr10_70107271_70137825	70121102	A A	G G	missense_variant missense_variant	MODERATE	HG00408.hp1 HG00423.hp1 HG00438.hp1 others(61): Show HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG01099.hp1 HG01109.hp2 HG01496.hp2 HG01943.hp2 HG02015.hp1 HG02056.hp1 HG02129.hp1 HG02135.hp2 HG02523.hp1 HG02683.hp1 HG02683.hp2 HG03017.hp2 HG03654.hp1 HG03710.hp2 HG03927.hp1 HG04184.hp2 HG04204.hp1 NA18612.hp2 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18959.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18997.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19007.hp1 NA19012.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19072.hp1 NA19074.hp2 NA19079.hp2 NA19081.hp1 NA19088.hp2	a0002 a0004 a0002 a0004	a0002c0004 a0002c0007 a0002c0011 others(1): Show a0002c0004 a0002c0007 a0002c0011 a0004c0008	a0002c0004t0001 a0002c0004t0002 a0002c0004t0009 others(10): Show a0002c0004t0001 a0002c0004t0002 a0002c0004t0009 a0002c0004t0021 a0002c0004t0058 a0002c0007t0003 a0002c0007t0008 a0002c0007t0039 a0002c0007t0053 a0002c0011t0002 a0002c0011t0005 a0004c0008t0004 a0004c0008t0012	a0002c0004t0001g0022 a0002c0004t0001g0025 a0002c0004t0001g0026 others(55): Show a0002c0004t0001g0022 a0002c0004t0001g0025 a0002c0004t0001g0026 a0002c0004t0001g0078 a0002c0004t0001g0085 a0002c0004t0001g0089 a0002c0004t0001g0099 a0002c0004t0001g0106 a0002c0004t0001g0109 a0002c0004t0001g0111 a0002c0004t0001g0135 a0002c0004t0001g0142 a0002c0004t0001g0147 a0002c0004t0001g0163 a0002c0004t0001g0164 a0002c0004t0001g0173 a0002c0004t0001g0185 a0002c0004t0001g0189 a0002c0004t0001g0190 a0002c0004t0001g0216 a0002c0004t0001g0243 a0002c0004t0001g0253 a0002c0004t0001g0262 a0002c0004t0001g0263 a0002c0004t0001g0267 a0002c0004t0001g0277 a0002c0004t0002g0336 a0002c0004t0002g0342 a0002c0004t0002g0358 a0002c0004t0009g0145 a0002c0004t0009g0290 a0002c0004t0021g0291 a0002c0004t0058g0376 a0002c0007t0003g0008 a0002c0007t0003g0165 a0002c0007t0003g0166 a0002c0007t0003g0167 a0002c0007t0003g0171 a0002c0007t0003g0172 a0002c0007t0003g0183 a0002c0007t0003g0184 a0002c0007t0003g0186 a0002c0007t0003g0187 a0002c0007t0003g0191 a0002c0007t0003g0194 a0002c0007t0003g0254 a0002c0007t0008g0337 a0002c0007t0039g0068 a0002c0007t0053g0371 a0002c0011t0002g0322 a0002c0011t0005g0065 a0004c0008t0004g0023 a0004c0008t0004g0105 a0004c0008t0004g0110 a0004c0008t0004g0123 a0004c0008t0004g0137 a0004c0008t0004g0221 a0004c0008t0012g0058	64	468	0.1368	c.404 others(3): Show c.404T>C	p.Met others(6): Show p.Met135Thr	AIFM2	ENSG00000042286.15	transcript	ENST00000307864.3	protein_coding	4/9	509/3134	404/1122	135/373	chr10	TogoVar
AIFM3_chr22_20962255_20986358	20974279	G G	A A	missense_variant missense_variant	MODERATE	HG01074.hp2 HG01175.hp2 HG01256.hp1 others(3): Show HG01074.hp2 HG01175.hp2 HG01256.hp1 HG01258.hp1 HG01516.hp2 NA20905.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0028 a0003c0005t0001g0056 a0003c0005t0001g0283 a0003c0005t0001g0028 a0003c0005t0001g0056 a0003c0005t0001g0283	6	456	0.0132	c.493 others(3): Show c.493G>A	p.Val others(6): Show p.Val165Ile	AIFM3	ENSG00000183773.16	transcript	ENST00000440238.4	protein_coding	6/21	682/2334	493/1818	165/605	chr22	TogoVar
AIFM3_chr22_20962255_20986358	20974610	T T	C C	missense_variant missense_variant	MODERATE	NA19084.hp2 NA19084.hp2	a0013 a0013	a0013c0013 a0013c0013	a0013c0013t0001 a0013c0013t0001	a0013c0013t0001g0068 a0013c0013t0001g0068	1	456	0.0022	c.596 others(3): Show c.596T>C	p.Ile others(6): Show p.Ile199Thr	AIFM3	ENSG00000183773.16	transcript	ENST00000440238.4	protein_coding	7/21	785/2334	596/1818	199/605	chr22	TogoVar
AIFM3_chr22_20962255_20986358	20976248	G G	A A	missense_variant missense_variant	MODERATE	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0003 a0004c0008t0003	a0004c0008t0003g0021 a0004c0008t0003g0021	2	456	0.0044	c.841 others(3): Show c.841G>A	p.Val others(6): Show p.Val281Met	AIFM3	ENSG00000183773.16	transcript	ENST00000440238.4	protein_coding	10/21	1030/2334	841/1818	281/605	chr22	TogoVar
AIFM3_chr22_20962255_20986358	20976500	G G	A A	missense_variant missense_variant	MODERATE	HG00423.hp1 HG02004.hp1 HG00423.hp1 HG02004.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0002 a0005c0009t0001 a0005c0009t0002	a0005c0009t0001g0007 a0005c0009t0002g0011 a0005c0009t0001g0007 a0005c0009t0002g0011	2	456	0.0044	c.992 others(3): Show c.992G>A	p.Arg others(6): Show p.Arg331Gln	AIFM3	ENSG00000183773.16	transcript	ENST00000440238.4	protein_coding	11/21	1181/2334	992/1818	331/605	chr22	TogoVar
AIFM3_chr22_20962255_20986358	20976529	G G	A A	missense_variant missense_variant	MODERATE	HG01192.hp1 HG01192.hp1	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0001 a0012c0015t0001	a0012c0015t0001g0136 a0012c0015t0001g0136	1	456	0.0022	c.102 others(4): Show c.1021G>A	p.Gly others(6): Show p.Gly341Ser	AIFM3	ENSG00000183773.16	transcript	ENST00000440238.4	protein_coding	11/21	1210/2334	1021/1818	341/605	chr22	TogoVar
AIFM3_chr22_20962255_20986358	20976922	G G	A A	missense_variant missense_variant	MODERATE	HG02922.hp2 HG02922.hp2	a0007 a0007	a0007c0022 a0007c0022	a0007c0022t0001 a0007c0022t0001	a0007c0022t0001g0022 a0007c0022t0001g0022	1	456	0.0022	c.120 others(4): Show c.1202G>A	p.Arg others(6): Show p.Arg401Gln	AIFM3	ENSG00000183773.16	transcript	ENST00000440238.4	protein_coding	13/21	1391/2334	1202/1818	401/605	chr22	TogoVar
AIFM3_chr22_20962255_20986358	20977065	G G	A A	missense_variant missense_variant	MODERATE	NA19043.hp2 NA19043.hp2	a0008 a0008	a0008c0023 a0008c0023	a0008c0023t0001 a0008c0023t0001	a0008c0023t0001g0108 a0008c0023t0001g0108	1	456	0.0022	c.125 others(4): Show c.1252G>A	p.Val others(6): Show p.Val418Met	AIFM3	ENSG00000183773.16	transcript	ENST00000440238.4	protein_coding	14/21	1441/2334	1252/1818	418/605	chr22	TogoVar
AIFM3_chr22_20962255_20986358	20977741	G G	A A	missense_variant missense_variant	MODERATE	HG01433.hp2 HG01433.hp2	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0001 a0011c0016t0001	a0011c0016t0001g0053 a0011c0016t0001g0053	1	456	0.0022	c.132 others(4): Show c.1324G>A	p.Gly others(6): Show p.Gly442Ser	AIFM3	ENSG00000183773.16	transcript	ENST00000440238.4	protein_coding	15/21	1513/2334	1324/1818	442/605	chr22	TogoVar
AIFM3_chr22_20962255_20986358	20979316	G G	C C	missense_variant missense_variant	MODERATE	HG00733.hp2 HG01243.hp1 HG01346.hp1 others(15): Show HG00733.hp2 HG01243.hp1 HG01346.hp1 HG02109.hp1 HG02451.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA19240.hp1	a0002 a0004 a0010 a0002 a0004 a0010	a0002c0003 a0002c0007 a0004c0008 others(1): Show a0002c0003 a0002c0007 a0004c0008 a0010c0017	a0002c0003t0003 a0002c0007t0003 a0004c0008t0003 others(1): Show a0002c0003t0003 a0002c0007t0003 a0004c0008t0003 a0010c0017t0003	a0002c0003t0003g0021 a0002c0003t0003g0036 a0002c0003t0003g0037 others(11): Show a0002c0003t0003g0021 a0002c0003t0003g0036 a0002c0003t0003g0037 a0002c0003t0003g0052 a0002c0003t0003g0076 a0002c0003t0003g0123 a0002c0003t0003g0124 a0002c0003t0003g0127 a0002c0003t0003g0203 a0002c0007t0003g0073 a0002c0007t0003g0117 a0002c0007t0003g0255 a0004c0008t0003g0021 a0010c0017t0003g0089	18	456	0.0395	c.152 others(4): Show c.1523G>C	p.Ser others(6): Show p.Ser508Thr	AIFM3	ENSG00000183773.16	transcript	ENST00000440238.4	protein_coding	17/21	1712/2334	1523/1818	508/605	chr22	TogoVar
AIFM3_chr22_20962255_20986358	20979665	G G	T T	missense_variant missense_variant	MODERATE	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0007 a0006c0010t0001g0007	2	456	0.0044	c.161 others(4): Show c.1615G>T	p.Asp others(6): Show p.Asp539Tyr	AIFM3	ENSG00000183773.16	transcript	ENST00000440238.4	protein_coding	18/21	1804/2334	1615/1818	539/605	chr22	TogoVar
AIFM3_chr22_20962255_20986358	20980100	G G	A A	missense_variant missense_variant	MODERATE	HG01891.hp2 HG01891.hp2	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0001 a0009c0018t0001	a0009c0018t0001g0233 a0009c0018t0001g0233	1	456	0.0022	c.173 others(4): Show c.1733G>A	p.Arg others(6): Show p.Arg578His	AIFM3	ENSG00000183773.16	transcript	ENST00000440238.4	protein_coding	19/21	1922/2334	1733/1818	578/605	chr22	TogoVar
AIFM3_chr22_20962255_20986358	20980752	T T	C C	missense_variant missense_variant	MODERATE	HG02647.hp1 HG02647.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0003 a0010c0017t0003	a0010c0017t0003g0089 a0010c0017t0003g0089	1	456	0.0022	c.176 others(4): Show c.1763T>C	p.Phe others(6): Show p.Phe588Ser	AIFM3	ENSG00000183773.16	transcript	ENST00000440238.4	protein_coding	20/21	1952/2334	1763/1818	588/605	chr22	TogoVar
AIM2_chr1_159057484_159081766	159063491	T T	C C	missense_variant missense_variant	MODERATE	NA18992.hp1 NA18992.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0096 a0005c0010t0001g0096	1	394	0.0025	c.100 others(4): Show c.1000A>G	p.Ile others(6): Show p.Ile334Val	AIM2	ENSG00000163568.16	transcript	ENST00000368130.9	protein_coding	5/6	1154/1394	1000/1032	334/343	chr1	TogoVar
AIM2_chr1_159057484_159081766	159066271	C C	T T	missense_variant missense_variant	MODERATE	NA18982.hp1 NA18982.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0071 a0004c0008t0001g0071	1	394	0.0025	c.455 others(3): Show c.455G>A	p.Arg others(6): Show p.Arg152His	AIM2	ENSG00000163568.16	transcript	ENST00000368130.9	protein_coding	4/6	609/1394	455/1032	152/343	chr1	TogoVar
AIM2_chr1_159057484_159081766	159068585	C C	A A	missense_variant missense_variant	MODERATE	NA19054.hp1 NA19054.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0002 a0003c0011t0002	a0003c0011t0002g0161 a0003c0011t0002g0161	1	394	0.0025	c.379 others(3): Show c.379G>T	p.Val others(6): Show p.Val127Phe	AIM2	ENSG00000163568.16	transcript	ENST00000368130.9	protein_coding	3/6	533/1394	379/1032	127/343	chr1	TogoVar
AIM2_chr1_159057484_159081766	159073399	T T	C C	missense_variant missense_variant	MODERATE	HG03579.hp2 HG03579.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0068 a0007c0006t0001g0068	1	394	0.0025	c.101 others(3): Show c.101A>G	p.Asn others(5): Show p.Asn34Ser	AIM2	ENSG00000163568.16	transcript	ENST00000368130.9	protein_coding	2/6	255/1394	101/1032	34/343	chr1	TogoVar
AIM2_chr1_159057484_159081766	159073406	C C	T T	missense_variant missense_variant	MODERATE	HG00423.hp1 HG00621.hp2 HG02056.hp1 others(20): Show HG00423.hp1 HG00621.hp2 HG02056.hp1 HG02080.hp1 HG02083.hp2 HG02148.hp1 HG02486.hp1 HG02615.hp1 HG02896.hp1 HG02897.hp1 HG03579.hp2 NA18948.hp2 NA18960.hp2 NA18966.hp2 NA18992.hp2 NA18999.hp2 NA19010.hp2 NA19058.hp2 NA19062.hp1 NA19063.hp2 NA19065.hp2 NA19068.hp1 NA19082.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0007c0006 a0002c0002 a0007c0006	a0002c0002t0001 a0007c0006t0001 a0002c0002t0001 a0007c0006t0001	a0002c0002t0001g0006 a0002c0002t0001g0013 a0002c0002t0001g0021 others(7): Show a0002c0002t0001g0006 a0002c0002t0001g0013 a0002c0002t0001g0021 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0080 a0002c0002t0001g0113 a0007c0006t0001g0068	23	394	0.0584	c.94G others(2): Show c.94G>A	p.Glu others(5): Show p.Glu32Lys	AIM2	ENSG00000163568.16	transcript	ENST00000368130.9	protein_coding	2/6	248/1394	94/1032	32/343	chr1	TogoVar
AIMP1_chr4_106311550_106354456	106328087	C C	G G	missense_variant missense_variant	MODERATE	HG00438.hp2 HG00597.hp2 HG00673.hp2 others(73): Show HG00438.hp2 HG00597.hp2 HG00673.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01168.hp2 HG01169.hp1 HG01257.hp1 HG01346.hp2 HG01496.hp1 HG01934.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02293.hp2 HG03491.hp2 HG03492.hp1 HG03688.hp1 HG04199.hp1 HG04228.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18954.hp2 NA18956.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18974.hp1 NA18975.hp2 NA18978.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18984.hp2 NA18987.hp1 NA18988.hp2 NA18990.hp2 NA18992.hp2 NA18997.hp2 NA19000.hp1 NA19004.hp1 NA19006.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19057.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19082.hp1 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0011 a0002c0002t0002 a0002c0002t0011	a0002c0002t0002g0003 a0002c0002t0002g0014 a0002c0002t0002g0015 others(46): Show a0002c0002t0002g0003 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0053 a0002c0002t0002g0169 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0190 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0002g0209 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0011g0026	76	384	0.1979	c.235 others(3): Show c.235C>G	p.Pro others(5): Show p.Pro79Ala	AIMP1	ENSG00000164022.18	transcript	ENST00000672341.1	protein_coding	4/7	305/2773	235/939	79/312	chr4	TogoVar
AIMP1_chr4_106311550_106354456	106328162	A A	G G	missense_variant missense_variant	MODERATE	HG02717.hp2 HG03130.hp1 HG06807.hp1 others(1): Show HG02717.hp2 HG03130.hp1 HG06807.hp1 NA19043.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0018 a0004c0004t0001g0097 a0004c0004t0001g0018 a0004c0004t0001g0097	4	384	0.0104	c.310 others(3): Show c.310A>G	p.Thr others(6): Show p.Thr104Ala	AIMP1	ENSG00000164022.18	transcript	ENST00000672341.1	protein_coding	4/7	380/2773	310/939	104/312	chr4	TogoVar
AIMP1_chr4_106311550_106354456	106328201	A A	G G	missense_variant missense_variant	MODERATE	HG02055.hp1 HG02145.hp2 HG02630.hp1 others(4): Show HG02055.hp1 HG02145.hp2 HG02630.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp1 NA19240.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0192 a0003c0003t0001g0193 a0003c0003t0001g0194 others(4): Show a0003c0003t0001g0192 a0003c0003t0001g0193 a0003c0003t0001g0194 a0003c0003t0001g0195 a0003c0003t0001g0196 a0003c0003t0001g0197 a0003c0003t0001g0198	7	384	0.0182	c.349 others(3): Show c.349A>G	p.Thr others(6): Show p.Thr117Ala	AIMP1	ENSG00000164022.18	transcript	ENST00000672341.1	protein_coding	4/7	419/2773	349/939	117/312	chr4	TogoVar
AIMP2_chr7_6004272_6028834	6009428	C C	T T	missense_variant missense_variant	MODERATE	NA18747.hp1 NA18747.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0078 a0003c0010t0001g0078	1	442	0.0023	c.65C others(2): Show c.65C>T	p.Thr others(5): Show p.Thr22Ile	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/4	157/1198	65/963	22/320	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009472	C C	G G	missense_variant missense_variant	MODERATE	HG02145.hp1 HG02145.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0002 a0004c0009t0002	a0004c0009t0002g0335 a0004c0009t0002g0335	1	442	0.0023	c.109 others(3): Show c.109C>G	p.Pro others(5): Show p.Pro37Ala	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/4	201/1198	109/963	37/320	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6017847	G G	A A	missense_variant missense_variant	MODERATE	HG03927.hp1 HG03927.hp1	a0008 a0008	a0008c0004 a0008c0004	a0008c0004t0001 a0008c0004t0001	a0008c0004t0001g0125 a0008c0004t0001g0125	1	442	0.0023	c.376 others(3): Show c.376G>A	p.Ala others(6): Show p.Ala126Thr	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	3/4	468/1198	376/963	126/320	chr7	TogoVar

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