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	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
CARS2_chr13_110636417_110711116	110651026	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01192.hp2 HG01192.hp2	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0002 a0010c0018t0002	a0010c0018t0002g0266 a0010c0018t0002g0266	1	372	0.0027	0	c.105 others(6): Show c.1054+8G>A		CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	10/14					chr13	TogoVar
CARS2_chr13_110636417_110711116	110683135	CTG CTG	C C	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01891.hp2 HG02622.hp2 HG03098.hp1 others(1): Show HG01891.hp2 HG02622.hp2 HG03098.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0020 a0001c0002 a0001c0020	a0001c0002t0002 a0001c0020t0002 a0001c0002t0002 a0001c0020t0002	a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0261 others(1): Show a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0261 a0001c0020t0002g0303	4	372	0.0108	-2	c.572 others(13): Show c.572-3_572-2delCA		CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	5/14					chr13	TogoVar
CARTPT_chr5_71714275_71726045	71719882	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0001 a0002c0003t0003g0001	1	474	0.0021	0	c.162 others(3): Show c.162C>G	p.Ile others(5): Show p.Ile54Met	CARTPT	ENSG00000164326.5	transcript	ENST00000296777.5	protein_coding	2/3	181/800	162/351	54/116		chr5	TogoVar
CASC3_chr17_40135537_40177171	40141200	CT CT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00733.hp2 HG01361.hp2 HG01993.hp1 HG00733.hp2 HG01361.hp2 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021	3	266	0.0113	-1	c.232 others(6): Show c.232-4delT		CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding	1/13				INFO_REALIGN_3_PRIME	chr17	TogoVar
CASD1_chr7_94504809_94562019	94517663	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00544.hp2 HG00558.hp1 HG00558.hp2 others(123): Show HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp2 HG00673.hp2 HG00738.hp2 HG01070.hp1 HG01081.hp2 HG01099.hp2 HG01167.hp2 HG01175.hp2 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG03017.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18983.hp2 NA18984.hp1 NA18987.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp2 NA18992.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19054.hp1 NA19056.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19070.hp1 NA19074.hp2 NA19078.hp2 NA19079.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0004 others(1): Show a0001c0001 a0001c0003 a0002c0004 a0003c0011	a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 others(5): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0003t0001 a0001c0003t0007 a0002c0004t0001 a0003c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(90): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0007g0161 a0001c0001t0010g0054 a0001c0001t0011g0123 a0001c0003t0001g0084 a0001c0003t0001g0090 a0001c0003t0007g0107 a0002c0004t0001g0001 a0002c0004t0001g0091 a0002c0004t0001g0098 a0002c0004t0001g0102 a0003c0011t0001g0119	126	398	0.3166	0	c.230 others(5): Show c.230+7T>G		CASD1	ENSG00000127995.17	transcript	ENST00000297273.9	protein_coding	2/17					chr7	TogoVar
CASD1_chr7_94504809_94562019	94535526	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02615.hp2 HG03209.hp1 NA18522.hp2 others(1): Show HG02615.hp2 HG03209.hp1 NA18522.hp2 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0010 a0001c0001 a0004c0010	a0001c0001t0006 a0004c0010t0006 a0001c0001t0006 a0004c0010t0006	a0001c0001t0006g0175 a0001c0001t0006g0219 a0001c0001t0006g0220 others(1): Show a0001c0001t0006g0175 a0001c0001t0006g0219 a0001c0001t0006g0220 a0004c0010t0006g0218	4	398	0.0101	0	c.843 others(5): Show c.843+3G>A		CASD1	ENSG00000127995.17	transcript	ENST00000297273.9	protein_coding	8/17					chr7	TogoVar
CASD1_chr7_94504809_94562019	94545542	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(252): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02300.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0012 a0002c0004 a0003c0011	a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 others(11): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0002t0003 a0001c0002t0009 a0001c0002t0012 a0001c0003t0001 a0001c0003t0007 a0001c0005t0001 a0001c0009t0003 a0001c0012t0003 a0002c0004t0001 a0003c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(187): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0007g0161 a0001c0001t0010g0054 a0001c0001t0011g0123 a0001c0002t0003g0002 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0044 a0001c0002t0003g0045 a0001c0002t0003g0046 a0001c0002t0003g0047 a0001c0002t0003g0048 a0001c0002t0003g0252 a0001c0002t0003g0253 a0001c0002t0003g0254 a0001c0002t0003g0255 a0001c0002t0003g0256 a0001c0002t0003g0257 a0001c0002t0003g0258 a0001c0002t0003g0259 a0001c0002t0003g0260 a0001c0002t0003g0262 a0001c0002t0003g0263 a0001c0002t0003g0264 a0001c0002t0003g0266 a0001c0002t0003g0267 a0001c0002t0003g0268 a0001c0002t0003g0269 a0001c0002t0003g0270 a0001c0002t0003g0271 a0001c0002t0003g0272 a0001c0002t0003g0273 a0001c0002t0003g0274 a0001c0002t0003g0275 a0001c0002t0003g0276 a0001c0002t0003g0277 a0001c0002t0003g0278 a0001c0002t0003g0279 a0001c0002t0003g0280 a0001c0002t0003g0281 a0001c0002t0003g0282 a0001c0002t0003g0283 a0001c0002t0003g0284 a0001c0002t0003g0286 a0001c0002t0009g0265 a0001c0002t0009g0285 a0001c0002t0012g0021 a0001c0003t0001g0005 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0001g0024 a0001c0003t0001g0029 a0001c0003t0001g0031 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0074 a0001c0003t0001g0084 a0001c0003t0001g0090 a0001c0003t0001g0124 a0001c0003t0001g0125 a0001c0003t0001g0128 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0003t0001g0131 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0001g0138 a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0142 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0146 a0001c0003t0001g0147 a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0003t0001g0151 a0001c0003t0001g0162 a0001c0003t0001g0168 a0001c0003t0001g0169 a0001c0003t0001g0170 a0001c0003t0001g0171 a0001c0003t0007g0107 a0001c0005t0001g0030 a0001c0005t0001g0152 a0001c0005t0001g0153 a0001c0005t0001g0154 a0001c0005t0001g0173 a0001c0009t0003g0261 a0001c0012t0003g0002 a0002c0004t0001g0001 a0002c0004t0001g0091 a0002c0004t0001g0098 a0002c0004t0001g0102 a0003c0011t0001g0119	255	398	0.6407	0	c.147 others(6): Show c.1477-3T>C		CASD1	ENSG00000127995.17	transcript	ENST00000297273.9	protein_coding	11/17					chr7	TogoVar
CASKIN1_chr16_2172180_2201605	2185106	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	350	0.0029	0	c.123 others(6): Show c.1239+5G>A		CASKIN1	ENSG00000167971.16	transcript	ENST00000343516.8	protein_coding	12/19					chr16	TogoVar
CASKIN2_chr17_75495261_75520537	75501698	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03688.hp1 HG03688.hp1	a0016 a0016	a0016c0032 a0016c0032	a0016c0032t0001 a0016c0032t0001	a0016c0032t0001g0145 a0016c0032t0001g0145	1	414	0.0024	0	c.329 others(6): Show c.3296-8C>G		CASKIN2	ENSG00000177303.10	transcript	ENST00000321617.8	protein_coding	18/19					chr17	TogoVar
CASKIN2_chr17_75495261_75520537	75503967	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0153 a0001c0002t0001g0153	1	414	0.0024	0	c.146 others(6): Show c.1468-5C>T		CASKIN2	ENSG00000177303.10	transcript	ENST00000321617.8	protein_coding	14/19					chr17	TogoVar
CASKIN2_chr17_75495261_75520537	75504207	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00741.hp2 HG01069.hp2 HG01071.hp1 others(20): Show HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG02486.hp2 HG02602.hp2 HG02683.hp1 HG02818.hp2 HG02965.hp1 HG03139.hp2 HG03225.hp1 HG03486.hp2 HG03516.hp1 HG03942.hp1 HG04115.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0009 others(3): Show a0001c0001 a0001c0002 a0001c0009 a0001c0031 a0001c0038 a0002c0003	a0001c0001t0002 a0001c0002t0002 a0001c0009t0002 others(3): Show a0001c0001t0002 a0001c0002t0002 a0001c0009t0002 a0001c0031t0002 a0001c0038t0002 a0002c0003t0002	a0001c0001t0002g0008 a0001c0002t0002g0015 a0001c0002t0002g0094 others(6): Show a0001c0001t0002g0008 a0001c0002t0002g0015 a0001c0002t0002g0094 a0001c0002t0002g0099 a0001c0002t0002g0180 a0001c0009t0002g0018 a0001c0031t0002g0096 a0001c0038t0002g0097 a0002c0003t0002g0095	23	414	0.0556	0	c.146 others(6): Show c.1467+8C>A		CASKIN2	ENSG00000177303.10	transcript	ENST00000321617.8	protein_coding	14/19					chr17	TogoVar
CASKIN2_chr17_75495261_75520537	75505077	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0057 a0002c0004t0002g0057	1	414	0.0024	0	c.931 others(5): Show c.931-4G>A		CASKIN2	ENSG00000177303.10	transcript	ENST00000321617.8	protein_coding	10/19					chr17	TogoVar
CASKIN2_chr17_75495261_75520537	75507129	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18967.hp1 NA18967.hp1	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0001 a0006c0016t0001	a0006c0016t0001g0130 a0006c0016t0001g0130	1	414	0.0024	0	c.245 others(3): Show c.245G>A	p.Gly others(5): Show p.Gly82Asp	CASKIN2	ENSG00000177303.10	transcript	ENST00000321617.8	protein_coding	5/20	786/4969	245/3609	82/1202		chr17	TogoVar
CASKIN2_chr17_75495261_75520537	75508227	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0056 a0002c0003t0002g0056	1	414	0.0024	0	c.146 others(5): Show c.146+7G>A		CASKIN2	ENSG00000177303.10	transcript	ENST00000321617.8	protein_coding	3/19					chr17	TogoVar
CASK_chrX_41509934_41928554	41610031	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp1 HG01255.hp1 HG01891.hp2 others(9): Show HG01243.hp1 HG01255.hp1 HG01891.hp2 HG02055.hp1 HG02258.hp1 HG02572.hp1 HG02622.hp2 HG02647.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0001c0001t0015 a0001c0001t0021	a0001c0001t0001g0022 a0001c0001t0001g0043 a0001c0001t0001g0044 others(9): Show a0001c0001t0001g0022 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0003g0048 a0001c0001t0003g0142 a0001c0001t0003g0151 a0001c0001t0014g0052 a0001c0001t0015g0150 a0001c0001t0021g0146	12	164	0.0732	0	c.103 others(6): Show c.1034-6C>T		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	11/26					chrX	TogoVar
CASP10_chr2_201178141_201226665	201187798	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19084.hp2 NA19084.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0002 a0010c0010t0002	a0010c0010t0002g0217 a0010c0010t0002g0217	1	322	0.0031	0	c.440 others(3): Show c.440T>C	p.Met others(6): Show p.Met147Thr	CASP10	ENSG00000003400.16	transcript	ENST00000286186.11	protein_coding	3/10	615/5668	440/1569	147/522		chr2	TogoVar
CASP10_chr2_201178141_201226665	201209067	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02280.hp2 HG02559.hp2 HG02572.hp1 others(21): Show HG02280.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03453.hp2 HG03579.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA20300.hp1	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0001 a0007c0011 a0009c0008 a0001c0001 a0007c0011 a0009c0008	a0001c0001t0003 a0001c0001t0005 a0007c0011t0003 others(1): Show a0001c0001t0003 a0001c0001t0005 a0007c0011t0003 a0009c0008t0005	a0001c0001t0003g0011 a0001c0001t0003g0033 a0001c0001t0003g0034 others(16): Show a0001c0001t0003g0011 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0055 a0001c0001t0003g0165 a0001c0001t0005g0012 a0001c0001t0005g0056 a0001c0001t0005g0057 a0001c0001t0005g0058 a0001c0001t0005g0059 a0007c0011t0003g0046 a0009c0008t0005g0012	24	322	0.0745	0	c.923 others(5): Show c.923-3C>T		CASP10	ENSG00000003400.16	transcript	ENST00000286186.11	protein_coding	8/9					chr2	TogoVar
CASP10_chr2_201178141_201226665	201217590	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03098.hp2 HG03098.hp2	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0005 a0009c0008t0005	a0009c0008t0005g0012 a0009c0008t0005g0012	1	322	0.0031	0	c.141 others(4): Show c.1418A>G	p.His others(6): Show p.His473Arg	CASP10	ENSG00000003400.16	transcript	ENST00000286186.11	protein_coding	10/10	1593/5668	1418/1569	473/522		chr2	TogoVar
CASP14_chr19_15044480_15063293	15052207	A A	G G	splice_region_variant splice_region_variant	LOW	HG00735.hp1 HG01943.hp2 HG01993.hp2 others(10): Show HG00735.hp1 HG01943.hp2 HG01993.hp2 HG02132.hp1 HG02148.hp1 NA18945.hp2 NA18954.hp1 NA18959.hp1 NA18964.hp1 NA19006.hp1 NA19064.hp1 NA19065.hp2 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0007 a0002c0003t0007 a0001c0001t0007 a0002c0003t0007	a0001c0001t0007g0003 a0001c0001t0007g0062 a0002c0003t0007g0003 a0001c0001t0007g0003 a0001c0001t0007g0062 a0002c0003t0007g0003	13	428	0.0304	0	c.-45 others(3): Show c.-45A>G		CASP14	ENSG00000105141.6	transcript	ENST00000427043.4	protein_coding	2/7					chr19	TogoVar
CASP1_chr11_105020508_105040144	105029658	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01069.hp2 HG01081.hp1 HG01106.hp1 others(27): Show HG01069.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01981.hp2 HG02004.hp2 HG02257.hp2 HG02273.hp1 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02738.hp1 HG02895.hp1 HG02896.hp2 HG03195.hp1 HG03490.hp2 HG03579.hp2 HG03688.hp2 NA19030.hp2 NA19043.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0001c0007 a0005c0008 a0001c0002 a0001c0007 a0005c0008	a0001c0002t0003 a0001c0002t0006 a0001c0007t0003 others(1): Show a0001c0002t0003 a0001c0002t0006 a0001c0007t0003 a0005c0008t0006	a0001c0002t0003g0003 a0001c0002t0003g0027 a0001c0002t0003g0040 others(6): Show a0001c0002t0003g0003 a0001c0002t0003g0027 a0001c0002t0003g0040 a0001c0002t0006g0012 a0001c0002t0006g0019 a0001c0002t0006g0026 a0001c0002t0006g0041 a0001c0007t0003g0023 a0005c0008t0006g0038	30	398	0.0754	0	c.862 others(5): Show c.862+7G>A		CASP1	ENSG00000137752.25	transcript	ENST00000533400.6	protein_coding	6/8					chr11	TogoVar
CASP1_chr11_105020508_105040144	105030331	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02145.hp1 HG03130.hp1 HG03139.hp1 others(1): Show HG02145.hp1 HG03130.hp1 HG03139.hp1 HG03486.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0016 a0004c0006t0001g0016	4	398	0.0101	0	c.626 others(3): Show c.626C>T	p.Ser others(6): Show p.Ser209Leu	CASP1	ENSG00000137752.25	transcript	ENST00000533400.6	protein_coding	5/9	657/1996	626/1215	209/404		chr11	TogoVar
CASP3_chr4_184622696_184654447	184631034	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	366	0.0027	0	c.604 others(5): Show c.604+3G>A		CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding	7/7					chr4	TogoVar
CASP3_chr4_184622696_184654447	184631944	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(199): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00544.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18948.hp1 NA18950.hp1 NA18952.hp2 NA18954.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18971.hp2 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA19000.hp1 NA19000.hp2 NA19006.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19064.hp2 NA19066.hp1 NA19068.hp2 NA19072.hp1 NA19075.hp1 NA19077.hp1 NA19083.hp2 NA19089.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0003t0001 a0002c0002t0001 a0002c0002t0006	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(138): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0003g0091 a0001c0001t0003g0128 a0001c0001t0003g0152 a0001c0001t0004g0016 a0001c0001t0004g0030 a0001c0001t0004g0037 a0001c0001t0004g0043 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0095 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0004g0102 a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0166 a0001c0001t0005g0014 a0001c0001t0005g0027 a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0195 a0001c0001t0005g0196 a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0201 a0001c0001t0005g0202 a0001c0001t0006g0029 a0001c0001t0006g0050 a0001c0001t0006g0169 a0001c0001t0006g0171 a0001c0001t0006g0215 a0001c0001t0006g0225 a0001c0001t0006g0227 a0001c0001t0006g0228 a0001c0001t0006g0229 a0001c0001t0006g0230 a0001c0001t0006g0231 a0001c0001t0006g0232 a0001c0001t0006g0236 a0001c0001t0006g0237 a0001c0001t0007g0013 a0001c0001t0007g0097 a0001c0001t0007g0098 a0001c0001t0007g0104 a0001c0001t0008g0012 a0001c0001t0008g0065 a0001c0001t0010g0052 a0001c0001t0010g0233 a0001c0001t0010g0234 a0001c0001t0012g0087 a0001c0001t0012g0096 a0001c0001t0013g0223 a0001c0001t0013g0235 a0001c0001t0014g0105 a0001c0001t0015g0110 a0001c0001t0016g0114 a0001c0001t0017g0133 a0001c0001t0018g0125 a0001c0001t0019g0132 a0001c0001t0020g0194 a0001c0003t0001g0069 a0002c0002t0001g0151 a0002c0002t0006g0053	202	366	0.5519	0	c.308 others(5): Show c.308-4A>C		CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding	5/7					chr4	TogoVar
CASP4_chr11_104937866_104973574	104954742	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	358	0.0028	0	c.262 others(5): Show c.262+5G>A		CASP4	ENSG00000196954.14	transcript	ENST00000444739.7	protein_coding	2/8					chr11	TogoVar
CASP5_chr11_104989243_105028168	104995734	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp1 HG00438.hp1 HG00438.hp2 others(134): Show HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01934.hp2 HG01952.hp1 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02071.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02258.hp2 HG02486.hp1 HG02523.hp1 HG02683.hp1 HG02698.hp2 HG02738.hp1 HG02970.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18964.hp2 NA18965.hp2 NA18967.hp2 NA18968.hp1 NA18971.hp1 NA18972.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19011.hp2 NA19012.hp2 NA19058.hp2 NA19060.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp2 NA19091.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0001 a0004 a0018 others(1): Show a0001 a0004 a0018 a0020	a0001c0001 a0004c0004 a0018c0027 others(1): Show a0001c0001 a0004c0004 a0018c0027 a0020c0024	a0001c0001t0001 a0001c0001t0002 a0004c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0004c0004t0001 a0018c0027t0001 a0020c0024t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(106): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0106 a0001c0001t0001g0160 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0315 a0001c0001t0002g0011 a0004c0004t0001g0002 a0004c0004t0001g0053 a0004c0004t0001g0062 a0004c0004t0001g0065 a0004c0004t0001g0067 a0004c0004t0001g0092 a0004c0004t0001g0101 a0004c0004t0001g0105 a0004c0004t0001g0116 a0004c0004t0001g0117 a0004c0004t0001g0120 a0004c0004t0001g0122 a0004c0004t0001g0125 a0004c0004t0001g0126 a0004c0004t0001g0134 a0004c0004t0001g0136 a0004c0004t0001g0139 a0004c0004t0001g0147 a0018c0027t0001g0119 a0020c0024t0001g0273	137	396	0.3460	0	c.4+ others(4): Show c.4+6T>A		CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding	9/9					chr11	TogoVar
CASP5_chr11_104989243_105028168	104995846	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	396	0.0025	0	c.120 others(6): Show c.1207-4T>C		CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding	8/9					chr11	TogoVar
CASP5_chr11_104989243_105028168	104997491	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03130.hp2 HG03195.hp2 HG03225.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0018 a0007c0011t0001g0096 a0007c0011t0001g0018 a0007c0011t0001g0096	3	396	0.0076	0	c.109 others(4): Show c.1098T>C	p.His others(6): Show p.His366His	CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding	8/10	1130/1446	1098/1305	366/434		chr11	TogoVar
CASP5_chr11_104989243_105028168	105007076	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp1 HG00323.hp2 HG00423.hp1 others(143): Show HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00544.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03710.hp1 HG03831.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18942.hp2 NA18944.hp2 NA18946.hp2 NA18949.hp2 NA18950.hp1 NA18953.hp2 NA18959.hp2 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18972.hp2 NA18977.hp1 NA18979.hp1 NA18981.hp2 NA18982.hp2 NA18989.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA18999.hp2 NA19004.hp1 NA19006.hp1 NA19007.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19058.hp1 NA19060.hp1 NA19066.hp2 NA19068.hp1 NA19076.hp2 NA19077.hp1 NA19081.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0014 a0015 a0018 a0021 a0022 a0023	a0001c0001 a0002c0002 a0003c0003 others(17): Show a0001c0001 a0002c0002 a0003c0003 a0003c0005 a0004c0004 a0005c0006 a0006c0008 a0006c0018 a0007c0011 a0007c0012 a0008c0007 a0009c0009 a0010c0015 a0011c0016 a0014c0017 a0015c0022 a0018c0027 a0021c0028 a0022c0019 a0023c0020	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(17): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0003c0005t0001 a0004c0004t0001 a0005c0006t0001 a0006c0008t0001 a0006c0018t0001 a0007c0011t0001 a0007c0012t0001 a0008c0007t0001 a0009c0009t0001 a0010c0015t0001 a0011c0016t0003 a0014c0017t0001 a0015c0022t0001 a0018c0027t0001 a0021c0028t0001 a0022c0019t0001 a0023c0020t0001	a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0106 others(111): Show a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0106 a0002c0002t0001g0291 a0003c0003t0001g0001 a0003c0003t0001g0006 a0003c0003t0001g0014 a0003c0003t0001g0020 a0003c0003t0001g0021 a0003c0003t0001g0045 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0050 a0003c0003t0001g0073 a0003c0003t0001g0085 a0003c0003t0001g0088 a0003c0003t0001g0089 a0003c0003t0001g0090 a0003c0003t0001g0091 a0003c0003t0001g0093 a0003c0003t0001g0094 a0003c0003t0001g0095 a0003c0003t0001g0098 a0003c0003t0001g0103 a0003c0003t0001g0104 a0003c0003t0001g0110 a0003c0003t0001g0112 a0003c0003t0001g0114 a0003c0003t0001g0115 a0003c0003t0001g0118 a0003c0003t0001g0121 a0003c0003t0001g0124 a0003c0003t0001g0127 a0003c0003t0001g0130 a0003c0003t0001g0131 a0003c0003t0001g0132 a0003c0003t0001g0135 a0003c0003t0001g0138 a0003c0003t0001g0144 a0003c0003t0001g0145 a0003c0003t0001g0148 a0003c0003t0001g0149 a0003c0005t0001g0005 a0003c0005t0001g0013 a0003c0005t0001g0049 a0003c0005t0001g0075 a0003c0005t0001g0141 a0003c0005t0001g0143 a0004c0004t0001g0002 a0004c0004t0001g0017 a0004c0004t0001g0019 a0004c0004t0001g0048 a0004c0004t0001g0092 a0004c0004t0001g0097 a0004c0004t0001g0101 a0004c0004t0001g0102 a0004c0004t0001g0105 a0004c0004t0001g0108 a0004c0004t0001g0109 a0004c0004t0001g0111 a0004c0004t0001g0113 a0004c0004t0001g0116 a0004c0004t0001g0117 a0004c0004t0001g0120 a0004c0004t0001g0122 a0004c0004t0001g0123 a0004c0004t0001g0125 a0004c0004t0001g0126 a0004c0004t0001g0128 a0004c0004t0001g0133 a0004c0004t0001g0134 a0004c0004t0001g0136 a0004c0004t0001g0139 a0004c0004t0001g0140 a0004c0004t0001g0142 a0004c0004t0001g0146 a0004c0004t0001g0147 a0004c0004t0001g0155 a0005c0006t0001g0029 a0005c0006t0001g0041 a0005c0006t0001g0311 a0005c0006t0001g0312 a0005c0006t0001g0313 a0005c0006t0001g0316 a0006c0008t0001g0044 a0006c0008t0001g0227 a0006c0008t0001g0322 a0006c0008t0001g0323 a0006c0008t0001g0324 a0006c0018t0001g0319 a0007c0011t0001g0018 a0007c0011t0001g0096 a0007c0012t0001g0015 a0007c0012t0001g0074 a0008c0007t0001g0043 a0008c0007t0001g0317 a0008c0007t0001g0320 a0008c0007t0001g0321 a0008c0007t0001g0325 a0009c0009t0001g0042 a0009c0009t0001g0081 a0009c0009t0001g0228 a0009c0009t0001g0229 a0009c0009t0001g0230 a0010c0015t0001g0087 a0010c0015t0001g0129 a0011c0016t0003g0012 a0014c0017t0001g0099 a0014c0017t0001g0100 a0015c0022t0001g0107 a0018c0027t0001g0119 a0021c0028t0001g0086 a0022c0019t0001g0326 a0023c0020t0001g0318	146	396	0.3687	0	c.433 others(5): Show c.433+7T>C		CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding	3/9					chr11	TogoVar
CASP6_chr4_109683628_109708445	109696493	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00738.hp1 HG01109.hp1 HG02280.hp1 others(7): Show HG00738.hp1 HG01109.hp1 HG02280.hp1 HG02559.hp2 HG02647.hp1 HG03041.hp2 HG03139.hp1 HG06807.hp1 NA18906.hp1 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0005 a0004c0004t0001 a0001c0001t0001 a0001c0001t0005 a0004c0004t0001	a0001c0001t0001g0007 a0001c0001t0001g0060 a0001c0001t0005g0055 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0060 a0001c0001t0005g0055 a0004c0004t0001g0035	10	416	0.0240	0	c.231 others(5): Show c.231-7C>T		CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding	3/6					chr4	TogoVar
CASP7_chr10_113674912_113735905	113721171	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0026 a0001c0001t0005g0026	1	406	0.0025	0	c.247 others(5): Show c.247+3G>A		CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	3/6					chr10	TogoVar
CASP7_chr10_113674912_113735905	113725541	ATCTCTTT others(11): Show ATCTCTTTTCAATGCCAAT	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03139.hp1 HG03139.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0003 a0005c0009t0003	a0005c0009t0003g0204 a0005c0009t0003g0204	1	406	0.0025	-18	c.552 others(30): Show c.552+5_552+22delTCTCTTTTCAATGCCAAT		CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	5/6					chr10	TogoVar
CASP9_chr1_15486401_15529215	15493038	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0140 a0001c0002t0001g0140	1	350	0.0029	0	c.115 others(6): Show c.1159-3C>T		CASP9	ENSG00000132906.18	transcript	ENST00000333868.10	protein_coding	8/8					chr1	TogoVar
CASP9_chr1_15486401_15529215	15507865	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp2 HG00733.hp2 HG01099.hp1 others(38): Show HG00639.hp2 HG00733.hp2 HG01099.hp1 HG01109.hp2 HG01192.hp2 HG01255.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01975.hp1 HG01981.hp2 HG02004.hp2 HG02155.hp1 HG02630.hp1 HG02735.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03710.hp2 HG04115.hp1 NA18941.hp2 NA18951.hp2 NA18954.hp1 NA18969.hp1 NA18978.hp2 NA18979.hp2 NA18984.hp2 NA18991.hp1 NA19043.hp2 NA19062.hp2 NA19064.hp1 NA19066.hp1 NA19068.hp2 NA19079.hp2 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0002 a0001c0003t0008 a0001c0005t0002 a0001c0003t0002 a0001c0003t0008 a0001c0005t0002	a0001c0003t0002g0006 a0001c0003t0002g0015 a0001c0003t0002g0016 others(29): Show a0001c0003t0002g0006 a0001c0003t0002g0015 a0001c0003t0002g0016 a0001c0003t0002g0039 a0001c0003t0002g0200 a0001c0003t0002g0206 a0001c0003t0002g0207 a0001c0003t0002g0210 a0001c0003t0002g0211 a0001c0003t0002g0212 a0001c0003t0002g0213 a0001c0003t0002g0215 a0001c0003t0002g0216 a0001c0003t0002g0217 a0001c0003t0002g0218 a0001c0003t0002g0219 a0001c0003t0002g0220 a0001c0003t0002g0221 a0001c0003t0002g0222 a0001c0003t0002g0223 a0001c0003t0002g0230 a0001c0003t0002g0233 a0001c0003t0002g0234 a0001c0003t0002g0235 a0001c0003t0002g0236 a0001c0003t0002g0237 a0001c0003t0002g0238 a0001c0003t0002g0240 a0001c0003t0002g0241 a0001c0003t0002g0242 a0001c0003t0008g0214 a0001c0005t0002g0042	41	350	0.1171	0	c.453 others(5): Show c.453+8T>C		CASP9	ENSG00000132906.18	transcript	ENST00000333868.10	protein_coding	3/8					chr1	TogoVar
CASP9_chr1_15486401_15529215	15524071	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02622.hp2 HG02622.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0043 a0004c0006t0001g0043	1	350	0.0029	0	c.130 others(3): Show c.130C>A	p.Gln others(5): Show p.Gln44Lys	CASP9	ENSG00000132906.18	transcript	ENST00000333868.10	protein_coding	1/9	145/2808	130/1251	44/416		chr1	TogoVar
CASQ1_chr1_160185575_160206886	160195456	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00609.hp2 HG00642.hp1 HG02027.hp2 others(9): Show HG00609.hp2 HG00642.hp1 HG02027.hp2 HG02155.hp1 NA18942.hp1 NA18949.hp2 NA18997.hp1 NA19056.hp2 NA19065.hp2 NA19084.hp1 NA19086.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0044 others(2): Show a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0044 a0001c0001t0001g0060 a0001c0001t0001g0096	12	440	0.0273	0	c.578 others(5): Show c.578-5C>G		CASQ1	ENSG00000143318.13	transcript	ENST00000368078.8	protein_coding	4/10					chr1	TogoVar
CASQ2_chr1_115695021_115773714	115725557	G G	GA GA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00621.hp1 HG01261.hp2 HG01884.hp2 others(29): Show HG00621.hp1 HG01261.hp2 HG01884.hp2 HG01943.hp2 HG02148.hp1 HG02257.hp1 HG02258.hp2 HG02300.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp2 HG02922.hp2 HG02970.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03471.hp1 HG03942.hp1 NA18939.hp1 NA18949.hp1 NA18949.hp2 NA18952.hp2 NA18970.hp2 NA18981.hp2 NA18991.hp1 NA19001.hp1 NA19005.hp2 NA19054.hp1 NA19064.hp1 NA19066.hp2 NA19067.hp1 NA19078.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0003c0005	a0001c0001t0004 a0001c0002t0003 a0002c0003t0007 others(3): Show a0001c0001t0004 a0001c0002t0003 a0002c0003t0007 a0002c0004t0011 a0002c0004t0018 a0003c0005t0001	a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0004g0217 others(29): Show a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0004g0217 a0001c0002t0003g0176 a0001c0002t0003g0188 a0001c0002t0003g0190 a0001c0002t0003g0211 a0002c0003t0007g0012 a0002c0003t0007g0014 a0002c0003t0007g0015 a0002c0003t0007g0017 a0002c0004t0011g0009 a0002c0004t0011g0010 a0002c0004t0011g0013 a0002c0004t0011g0020 a0002c0004t0018g0016 a0003c0005t0001g0234 a0003c0005t0001g0235 a0003c0005t0001g0236 a0003c0005t0001g0237 a0003c0005t0001g0238 a0003c0005t0001g0239 a0003c0005t0001g0240 a0003c0005t0001g0242 a0003c0005t0001g0243 a0003c0005t0001g0247 a0003c0005t0001g0248 a0003c0005t0001g0250 a0003c0005t0001g0251 a0003c0005t0001g0252 a0003c0005t0001g0253 a0003c0005t0001g0254	32	364	0.0879	1	c.738 others(6): Show c.738-5dupT		CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	6/10					chr1	TogoVar
CASQ2_chr1_115695021_115773714	115725557	GA GA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01175.hp1 HG01891.hp2 HG01952.hp2 others(10): Show HG01175.hp1 HG01891.hp2 HG01952.hp2 HG02055.hp1 HG02615.hp2 HG02738.hp1 HG02818.hp2 HG03486.hp2 HG03831.hp2 NA18955.hp2 NA18962.hp2 NA18965.hp2 NA18986.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0004c0008	a0001c0001t0002 a0001c0001t0008 a0001c0002t0001 others(5): Show a0001c0001t0002 a0001c0001t0008 a0001c0002t0001 a0001c0002t0003 a0002c0003t0006 a0002c0003t0007 a0002c0003t0010 a0004c0008t0001	a0001c0001t0002g0120 a0001c0001t0008g0021 a0001c0002t0001g0044 others(10): Show a0001c0001t0002g0120 a0001c0001t0008g0021 a0001c0002t0001g0044 a0001c0002t0001g0077 a0001c0002t0003g0035 a0001c0002t0003g0037 a0001c0002t0003g0203 a0002c0003t0006g0321 a0002c0003t0007g0018 a0002c0003t0007g0019 a0002c0003t0010g0007 a0002c0003t0010g0008 a0004c0008t0001g0273	13	364	0.0357	-1	c.738 others(6): Show c.738-5delT		CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	6/10					chr1	TogoVar
CASQ2_chr1_115695021_115773714	115725557	GAA GAA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp1 HG00423.hp2 HG00438.hp1 others(194): Show HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03492.hp1 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18943.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18955.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18965.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp1 NA19081.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0003c0012	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(18): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0015 a0001c0001t0019 a0001c0001t0021 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0012 a0002c0003t0001 a0002c0003t0003 a0002c0003t0006 a0002c0003t0010 a0002c0004t0002 a0002c0004t0004 a0002c0004t0005 a0002c0004t0015 a0002c0004t0016 a0003c0012t0004	a0001c0001t0002g0001 a0001c0001t0002g0050 a0001c0001t0002g0053 others(193): Show a0001c0001t0002g0001 a0001c0001t0002g0050 a0001c0001t0002g0053 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0153 a0001c0001t0002g0195 a0001c0001t0004g0071 a0001c0001t0004g0159 a0001c0001t0004g0192 a0001c0001t0004g0206 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0005g0162 a0001c0001t0008g0034 a0001c0001t0015g0054 a0001c0001t0019g0022 a0001c0001t0021g0125 a0001c0002t0001g0043 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0066 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0175 a0001c0002t0003g0056 a0001c0002t0006g0040 a0001c0002t0006g0229 a0001c0002t0012g0028 a0002c0003t0001g0260 a0002c0003t0001g0264 a0002c0003t0001g0265 a0002c0003t0001g0267 a0002c0003t0001g0268 a0002c0003t0001g0270 a0002c0003t0001g0271 a0002c0003t0001g0281 a0002c0003t0001g0283 a0002c0003t0001g0284 a0002c0003t0001g0285 a0002c0003t0001g0286 a0002c0003t0001g0299 a0002c0003t0001g0300 a0002c0003t0001g0301 a0002c0003t0001g0303 a0002c0003t0001g0304 a0002c0003t0001g0305 a0002c0003t0001g0310 a0002c0003t0001g0311 a0002c0003t0001g0313 a0002c0003t0001g0316 a0002c0003t0001g0317 a0002c0003t0001g0318 a0002c0003t0001g0323 a0002c0003t0001g0326 a0002c0003t0001g0328 a0002c0003t0001g0329 a0002c0003t0001g0333 a0002c0003t0001g0338 a0002c0003t0001g0340 a0002c0003t0001g0342 a0002c0003t0001g0344 a0002c0003t0001g0345 a0002c0003t0001g0347 a0002c0003t0001g0348 a0002c0003t0001g0349 a0002c0003t0001g0353 a0002c0003t0001g0354 a0002c0003t0001g0356 a0002c0003t0001g0357 a0002c0003t0003g0277 a0002c0003t0006g0320 a0002c0003t0006g0331 a0002c0003t0006g0351 a0002c0003t0006g0359 a0002c0003t0006g0360 a0002c0003t0010g0004 a0002c0003t0010g0006 a0002c0004t0002g0255 a0002c0004t0002g0258 a0002c0004t0002g0259 a0002c0004t0002g0263 a0002c0004t0002g0272 a0002c0004t0002g0274 a0002c0004t0002g0275 a0002c0004t0002g0278 a0002c0004t0002g0279 a0002c0004t0002g0280 a0002c0004t0002g0288 a0002c0004t0002g0289 a0002c0004t0002g0308 a0002c0004t0002g0312 a0002c0004t0002g0322 a0002c0004t0002g0325 a0002c0004t0002g0327 a0002c0004t0002g0334 a0002c0004t0002g0337 a0002c0004t0002g0343 a0002c0004t0004g0266 a0002c0004t0004g0269 a0002c0004t0004g0276 a0002c0004t0004g0282 a0002c0004t0004g0287 a0002c0004t0004g0290 a0002c0004t0004g0291 a0002c0004t0004g0292 a0002c0004t0004g0293 a0002c0004t0004g0294 a0002c0004t0004g0295 a0002c0004t0004g0296 a0002c0004t0004g0297 a0002c0004t0004g0298 a0002c0004t0004g0302 a0002c0004t0004g0306 a0002c0004t0004g0307 a0002c0004t0004g0319 a0002c0004t0004g0332 a0002c0004t0004g0335 a0002c0004t0004g0336 a0002c0004t0004g0339 a0002c0004t0004g0346 a0002c0004t0004g0350 a0002c0004t0005g0324 a0002c0004t0015g0330 a0002c0004t0016g0005 a0003c0012t0004g0244	197	364	0.5412	-2	c.738 others(13): Show c.738-6_738-5delTT		CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	6/10					chr1	TogoVar
CASQ2_chr1_115695021_115773714	115725557	GAAA GAAA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01981.hp1 HG02145.hp1 HG02145.hp2 others(16): Show HG01981.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02622.hp1 HG02895.hp1 HG02965.hp1 HG03209.hp1 HG03453.hp1 HG03486.hp1 HG06807.hp1 NA18946.hp1 NA18982.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(3): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003 a0002c0004 a0002c0013	a0001c0001t0002 a0001c0001t0008 a0001c0001t0014 others(8): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0014 a0001c0002t0001 a0001c0002t0012 a0001c0002t0013 a0001c0007t0009 a0001c0007t0020 a0002c0003t0001 a0002c0004t0017 a0002c0013t0009	a0001c0001t0002g0067 a0001c0001t0002g0104 a0001c0001t0002g0233 others(16): Show a0001c0001t0002g0067 a0001c0001t0002g0104 a0001c0001t0002g0233 a0001c0001t0008g0024 a0001c0001t0008g0026 a0001c0001t0008g0033 a0001c0001t0014g0030 a0001c0001t0014g0031 a0001c0002t0001g0133 a0001c0002t0012g0025 a0001c0002t0013g0027 a0001c0007t0009g0052 a0001c0007t0009g0163 a0001c0007t0009g0179 a0001c0007t0009g0180 a0001c0007t0020g0023 a0002c0003t0001g0355 a0002c0004t0017g0011 a0002c0013t0009g0309	19	364	0.0522	-3	c.738 others(14): Show c.738-7_738-5delTTT		CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	6/10					chr1	TogoVar
CASQ2_chr1_115695021_115773714	115740722	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp1 HG00323.hp2 HG00423.hp1 others(200): Show HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03492.hp2 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18955.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp2 NA18971.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19005.hp2 NA19006.hp2 NA19009.hp2 NA19012.hp1 NA19043.hp1 NA19054.hp1 NA19057.hp2 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19077.hp2 NA19078.hp2 NA19080.hp2 NA19081.hp2 NA19085.hp2 NA19086.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(5): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0010 a0002c0003 a0002c0004 a0003c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(14): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0022 a0001c0006t0003 a0001c0007t0009 a0001c0010t0003 a0002c0003t0001 a0002c0003t0003 a0002c0003t0006 a0002c0004t0002 a0002c0004t0005 a0002c0004t0015 a0003c0005t0001	a0001c0001t0002g0153 a0001c0001t0002g0174 a0001c0001t0004g0192 others(198): Show a0001c0001t0002g0153 a0001c0001t0002g0174 a0001c0001t0004g0192 a0001c0001t0004g0206 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0005g0002 a0001c0001t0005g0076 a0001c0001t0005g0141 a0001c0001t0005g0142 a0001c0001t0005g0143 a0001c0001t0005g0144 a0001c0001t0005g0145 a0001c0001t0005g0146 a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0005g0149 a0001c0001t0005g0150 a0001c0001t0005g0151 a0001c0001t0005g0165 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0077 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0175 a0001c0002t0003g0003 a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0039 a0001c0002t0003g0041 a0001c0002t0003g0042 a0001c0002t0003g0047 a0001c0002t0003g0048 a0001c0002t0003g0049 a0001c0002t0003g0086 a0001c0002t0003g0140 a0001c0002t0003g0158 a0001c0002t0003g0160 a0001c0002t0003g0161 a0001c0002t0003g0164 a0001c0002t0003g0170 a0001c0002t0003g0171 a0001c0002t0003g0172 a0001c0002t0003g0173 a0001c0002t0003g0176 a0001c0002t0003g0181 a0001c0002t0003g0185 a0001c0002t0003g0186 a0001c0002t0003g0187 a0001c0002t0003g0188 a0001c0002t0003g0189 a0001c0002t0003g0190 a0001c0002t0003g0191 a0001c0002t0003g0193 a0001c0002t0003g0194 a0001c0002t0003g0196 a0001c0002t0003g0197 a0001c0002t0003g0198 a0001c0002t0003g0199 a0001c0002t0003g0200 a0001c0002t0003g0201 a0001c0002t0003g0202 a0001c0002t0003g0203 a0001c0002t0003g0204 a0001c0002t0003g0205 a0001c0002t0003g0207 a0001c0002t0003g0209 a0001c0002t0003g0210 a0001c0002t0003g0211 a0001c0002t0003g0212 a0001c0002t0003g0213 a0001c0002t0003g0214 a0001c0002t0003g0218 a0001c0002t0003g0219 a0001c0002t0003g0220 a0001c0002t0003g0221 a0001c0002t0003g0222 a0001c0002t0003g0223 a0001c0002t0003g0224 a0001c0002t0003g0225 a0001c0002t0003g0226 a0001c0002t0003g0227 a0001c0002t0003g0228 a0001c0002t0003g0230 a0001c0002t0003g0231 a0001c0002t0003g0232 a0001c0002t0006g0040 a0001c0002t0006g0229 a0001c0002t0022g0178 a0001c0006t0003g0168 a0001c0006t0003g0169 a0001c0006t0003g0177 a0001c0006t0003g0182 a0001c0006t0003g0183 a0001c0006t0003g0184 a0001c0007t0009g0179 a0001c0007t0009g0180 a0001c0010t0003g0208 a0002c0003t0001g0260 a0002c0003t0001g0264 a0002c0003t0001g0265 a0002c0003t0001g0267 a0002c0003t0001g0268 a0002c0003t0001g0270 a0002c0003t0001g0271 a0002c0003t0001g0281 a0002c0003t0001g0283 a0002c0003t0001g0284 a0002c0003t0001g0285 a0002c0003t0001g0286 a0002c0003t0001g0299 a0002c0003t0001g0300 a0002c0003t0001g0301 a0002c0003t0001g0303 a0002c0003t0001g0304 a0002c0003t0001g0305 a0002c0003t0001g0310 a0002c0003t0001g0311 a0002c0003t0001g0313 a0002c0003t0001g0316 a0002c0003t0001g0317 a0002c0003t0001g0318 a0002c0003t0001g0323 a0002c0003t0001g0326 a0002c0003t0001g0328 a0002c0003t0001g0329 a0002c0003t0001g0333 a0002c0003t0001g0338 a0002c0003t0001g0340 a0002c0003t0001g0342 a0002c0003t0001g0344 a0002c0003t0001g0345 a0002c0003t0001g0347 a0002c0003t0001g0348 a0002c0003t0001g0349 a0002c0003t0001g0353 a0002c0003t0001g0354 a0002c0003t0001g0355 a0002c0003t0001g0356 a0002c0003t0001g0357 a0002c0003t0003g0256 a0002c0003t0003g0257 a0002c0003t0003g0261 a0002c0003t0003g0262 a0002c0003t0003g0277 a0002c0003t0003g0341 a0002c0003t0006g0320 a0002c0003t0006g0321 a0002c0003t0006g0331 a0002c0003t0006g0351 a0002c0003t0006g0359 a0002c0003t0006g0360 a0002c0004t0002g0255 a0002c0004t0002g0258 a0002c0004t0002g0259 a0002c0004t0002g0263 a0002c0004t0002g0272 a0002c0004t0002g0274 a0002c0004t0002g0275 a0002c0004t0002g0278 a0002c0004t0002g0279 a0002c0004t0002g0280 a0002c0004t0002g0288 a0002c0004t0002g0312 a0002c0004t0002g0327 a0002c0004t0002g0337 a0002c0004t0002g0343 a0002c0004t0002g0352 a0002c0004t0005g0324 a0002c0004t0015g0330 a0003c0005t0001g0234 a0003c0005t0001g0235 a0003c0005t0001g0236 a0003c0005t0001g0237 a0003c0005t0001g0238 a0003c0005t0001g0239 a0003c0005t0001g0240 a0003c0005t0001g0241 a0003c0005t0001g0242 a0003c0005t0001g0243 a0003c0005t0001g0245 a0003c0005t0001g0246 a0003c0005t0001g0247 a0003c0005t0001g0248 a0003c0005t0001g0249 a0003c0005t0001g0250 a0003c0005t0001g0251 a0003c0005t0001g0252 a0003c0005t0001g0253 a0003c0005t0001g0254	203	364	0.5577	0	c.420 others(5): Show c.420+6T>C		CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	3/10					chr1	TogoVar
CASTOR2_chr7_74959705_75036528	75031517	GA GA	G G	splice_region_variant splice_region_variant	LOW	HG01071.hp2 HG01074.hp2 HG01168.hp2 others(27): Show HG01071.hp2 HG01074.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01346.hp1 HG01891.hp1 HG01975.hp2 HG01993.hp1 HG02040.hp2 HG02055.hp2 HG02109.hp1 HG02486.hp1 HG02622.hp2 HG02647.hp2 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG03139.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03540.hp2 HG03669.hp2 HG03710.hp2 NA18906.hp2 NA19030.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0003 a0001c0001t0020 a0001c0001t0023 others(17): Show a0001c0001t0003 a0001c0001t0020 a0001c0001t0023 a0001c0001t0031 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0047 a0001c0001t0048 a0001c0001t0080 a0001c0001t0082 a0001c0001t0083 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0002t0033 a0001c0002t0085 a0002c0004t0032	a0001c0001t0003g0057 a0001c0001t0003g0088 a0001c0001t0003g0090 others(27): Show a0001c0001t0003g0057 a0001c0001t0003g0088 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0020g0209 a0001c0001t0020g0215 a0001c0001t0023g0191 a0001c0001t0023g0193 a0001c0001t0031g0087 a0001c0001t0031g0092 a0001c0001t0037g0213 a0001c0001t0039g0195 a0001c0001t0040g0194 a0001c0001t0041g0197 a0001c0001t0042g0196 a0001c0001t0047g0190 a0001c0001t0048g0202 a0001c0001t0080g0144 a0001c0001t0082g0004 a0001c0001t0083g0079 a0001c0001t0086g0016 a0001c0001t0087g0027 a0001c0001t0088g0029 a0001c0002t0033g0068 a0001c0002t0033g0075 a0001c0002t0085g0076 a0002c0004t0032g0074 a0002c0004t0032g0121	30	228	0.1316	-1	c.68 others(6): Show c.6829delA		CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	9/9				INFO_REALIGN_3_PRIME	chr7	TogoVar
CAST_chr5_96657376_96779683	96740783	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp2 HG00609.hp1 HG00639.hp2 others(50): Show HG00099.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG01069.hp2 HG01074.hp1 HG01099.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01257.hp2 HG01258.hp2 HG01516.hp2 HG01934.hp2 HG01943.hp1 HG02004.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp2 HG02602.hp1 HG02615.hp2 HG02683.hp2 HG02698.hp1 HG02738.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG03453.hp1 HG03490.hp2 HG03492.hp2 HG03710.hp2 HG03831.hp2 HG03942.hp1 HG04184.hp1 NA18612.hp1 NA18942.hp1 NA18946.hp1 NA18949.hp2 NA18956.hp1 NA18959.hp1 NA18963.hp1 NA18970.hp1 NA18973.hp2 NA18988.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA19001.hp2 NA19002.hp2 NA19005.hp2 NA19011.hp2 NA21309.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0012 a0002c0003 a0002c0024 others(1): Show a0001c0012 a0002c0003 a0002c0024 a0010c0016	a0001c0012t0001 a0001c0012t0012 a0002c0003t0001 others(6): Show a0001c0012t0001 a0001c0012t0012 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0010 a0002c0003t0015 a0002c0024t0001 a0010c0016t0011	a0001c0012t0001g0328 a0001c0012t0001g0329 a0001c0012t0012g0270 others(46): Show a0001c0012t0001g0328 a0001c0012t0001g0329 a0001c0012t0012g0270 a0002c0003t0001g0239 a0002c0003t0001g0240 a0002c0003t0001g0334 a0002c0003t0001g0335 a0002c0003t0002g0276 a0002c0003t0002g0289 a0002c0003t0002g0291 a0002c0003t0002g0294 a0002c0003t0002g0296 a0002c0003t0003g0015 a0002c0003t0003g0016 a0002c0003t0003g0021 a0002c0003t0003g0100 a0002c0003t0003g0174 a0002c0003t0003g0268 a0002c0003t0003g0271 a0002c0003t0003g0275 a0002c0003t0003g0278 a0002c0003t0003g0281 a0002c0003t0003g0305 a0002c0003t0003g0306 a0002c0003t0003g0308 a0002c0003t0003g0309 a0002c0003t0003g0310 a0002c0003t0003g0311 a0002c0003t0003g0312 a0002c0003t0003g0314 a0002c0003t0003g0316 a0002c0003t0003g0317 a0002c0003t0003g0319 a0002c0003t0003g0320 a0002c0003t0003g0321 a0002c0003t0003g0324 a0002c0003t0003g0325 a0002c0003t0003g0326 a0002c0003t0003g0327 a0002c0003t0003g0330 a0002c0003t0003g0331 a0002c0003t0003g0333 a0002c0003t0003g0338 a0002c0003t0003g0339 a0002c0003t0003g0340 a0002c0003t0010g0284 a0002c0003t0015g0002 a0002c0024t0001g0225 a0010c0016t0011g0026	53	358	0.1480	0	c.918 others(3): Show c.918G>A	p.Ser others(6): Show p.Ser306Ser	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	13/32	965/4490	918/2376	306/791		chr5	TogoVar
CAST_chr5_96657376_96779683	96746424	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02922.hp1 NA20129.hp1 HG02922.hp1 NA20129.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0002 a0008c0014t0002	a0008c0014t0002g0110 a0008c0014t0002g0111 a0008c0014t0002g0110 a0008c0014t0002g0111	2	358	0.0056	0	c.128 others(4): Show c.1283C>T	p.Thr others(6): Show p.Thr428Met	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	17/32	1330/4490	1283/2376	428/791		chr5	TogoVar
CAST_chr5_96657376_96779683	96746431	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0009 a0001c0021t0009	a0001c0021t0009g0035 a0001c0021t0009g0035	1	358	0.0028	0	c.128 others(6): Show c.1284+6T>G		CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	17/31					chr5	TogoVar
CAST_chr5_96657376_96779683	96748514	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0202 a0001c0002t0002g0202	1	358	0.0028	0	c.133 others(6): Show c.1333-4A>G		CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	18/31					chr5	TogoVar
CAST_chr5_96657376_96779683	96762275	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01109.hp2 HG02723.hp2 HG02922.hp2 others(1): Show HG01109.hp2 HG02723.hp2 HG02922.hp2 HG02970.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0014 a0005c0010t0024 a0005c0010t0014 a0005c0010t0024	a0005c0010t0014g0043 a0005c0010t0014g0044 a0005c0010t0014g0131 others(1): Show a0005c0010t0014g0043 a0005c0010t0014g0044 a0005c0010t0014g0131 a0005c0010t0024g0042	4	358	0.0112	0	c.183 others(4): Show c.1835A>G	p.Lys others(6): Show p.Lys612Arg	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	25/32	1882/4490	1835/2376	612/791		chr5	TogoVar
CAST_chr5_96657376_96779683	96765218	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp1 HG03098.hp1 NA21309.hp1 HG02572.hp1 HG03098.hp1 NA21309.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0016 a0001c0001 a0010c0016	a0001c0001t0003 a0010c0016t0011 a0001c0001t0003 a0010c0016t0011	a0001c0001t0003g0256 a0001c0001t0003g0257 a0010c0016t0011g0026 a0001c0001t0003g0256 a0001c0001t0003g0257 a0010c0016t0011g0026	3	358	0.0084	0	c.193 others(6): Show c.1933-3C>T		CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	25/31					chr5	TogoVar
CASZ1_chr1_10631604_10801646	10644911	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0024 a0001c0001t0008g0024	1	236	0.0042	0	c.386 others(6): Show c.3868+6G>A		CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	18/20					chr1	TogoVar
CASZ1_chr1_10631604_10801646	10660544	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01099.hp2 HG01928.hp1 HG02004.hp1 others(2): Show HG01099.hp2 HG01928.hp1 HG02004.hp1 HG02486.hp2 NA18969.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0011 a0001c0008t0019 a0001c0008t0011 a0001c0008t0019	a0001c0008t0011g0101 a0001c0008t0011g0103 a0001c0008t0011g0173 others(2): Show a0001c0008t0011g0101 a0001c0008t0011g0103 a0001c0008t0011g0173 a0001c0008t0019g0014 a0001c0008t0019g0038	5	236	0.0212	0	c.506 others(5): Show c.506-8C>T		CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	5/20					chr1	TogoVar
CASZ1_chr1_10631604_10801646	10693919	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0037 a0002c0037	a0002c0037t0061 a0002c0037t0061	a0002c0037t0061g0174 a0002c0037t0061g0174	1	236	0.0042	0	c.-23 others(5): Show c.-23-7T>C		CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	3/20					chr1	TogoVar

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