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	distance	status	chr	external
CARMIL1_chr6_25274374_25625530	25573590	C C	CAAA CAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp2 HG02135.hp2 others(5): Show HG01167.hp1 HG01243.hp2 HG02135.hp2 HG02723.hp2 HG03130.hp2 HG03540.hp2 NA18522.hp2 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0031 a0002c0005 a0003c0024 a0008c0035	a0001c0001t0003 a0001c0003t0010 a0001c0004t0002 others(5): Show a0001c0001t0003 a0001c0003t0010 a0001c0004t0002 a0001c0004t0012 a0001c0031t0004 a0002c0005t0005 a0003c0024t0008 a0008c0035t0004	a0001c0001t0003g0071 a0001c0003t0010g0185 a0001c0004t0002g0079 others(5): Show a0001c0001t0003g0071 a0001c0003t0010g0185 a0001c0004t0002g0079 a0001c0004t0012g0177 a0001c0031t0004g0004 a0002c0005t0005g0158 a0003c0024t0008g0019 a0008c0035t0004g0107	8	186	0.0430	3	c.274 others(22): Show c.2743-7315_2743-7313dupAAA		CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	29/36					INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL2_chr16_67640144_67662569	67643603	A A	AAAT AAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00639.hp1 HG01099.hp2 others(19): Show HG00438.hp2 HG00639.hp1 HG01099.hp2 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01975.hp1 HG02027.hp1 HG02071.hp2 HG02735.hp1 HG03491.hp1 HG04199.hp1 NA18940.hp2 NA18995.hp2 NA19010.hp1 NA19055.hp1 NA19060.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0071 a0001c0008t0001g0008	22	282	0.0780	3	c.-16 others(14): Show c.-1644_-1643insAAT		CARMIL2	ENSG00000159753.15	transcript	ENST00000334583.11	protein_coding					1540		chr16	TogoVar
CARMIL2_chr16_67640144_67662569	67654080	C C	CGGG CGGG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp1 HG01099.hp2 others(24): Show HG00438.hp2 HG00639.hp1 HG01099.hp2 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01934.hp2 HG01975.hp1 HG02109.hp2 HG02615.hp2 HG02622.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03041.hp1 HG03209.hp2 HG03453.hp1 HG03491.hp1 HG03579.hp1 NA19010.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0019 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0044 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0008t0001g0008	27	282	0.0957	3	c.312 others(18): Show c.3121-56_3121-54dupGGG		CARMIL2	ENSG00000159753.15	transcript	ENST00000334583.11	protein_coding	29/37					INFO_REALIGN_3_PRIME	chr16	TogoVar
CARMIL3_chr14_24047009_24074729	24070121	T T	TGTG TGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00408.hp1 others(205): Show HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01515.hp2 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01993.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18981.hp1 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(8): Show a0001 a0002 a0004 a0005 a0008 a0013 a0014 a0019 a0020 a0022 a0026	a0001c0001 a0001c0002 a0001c0003 others(21): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0009 a0001c0011 a0001c0021 a0001c0029 a0001c0040 a0001c0047 a0002c0004 a0002c0010 a0002c0033 a0004c0017 a0004c0027 a0005c0012 a0008c0018 a0013c0053 a0014c0048 a0019c0037 a0020c0036 a0022c0034 a0026c0031	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(23): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0004 a0001c0005t0001 a0001c0008t0001 a0001c0009t0001 a0001c0011t0001 a0001c0021t0001 a0001c0029t0001 a0001c0040t0001 a0001c0047t0001 a0002c0004t0001 a0002c0010t0001 a0002c0033t0001 a0004c0017t0002 a0004c0017t0003 a0004c0027t0002 a0005c0012t0001 a0008c0018t0001 a0013c0053t0001 a0014c0048t0001 a0019c0037t0001 a0020c0036t0001 a0022c0034t0001 a0026c0031t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0009 others(88): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0164 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0008 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0027 a0001c0002t0001g0047 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0118 a0001c0002t0001g0123 a0001c0003t0001g0002 a0001c0003t0001g0013 a0001c0003t0001g0019 a0001c0003t0001g0025 a0001c0003t0001g0044 a0001c0003t0001g0046 a0001c0003t0001g0086 a0001c0003t0001g0126 a0001c0003t0001g0158 a0001c0003t0001g0169 a0001c0003t0004g0137 a0001c0005t0001g0134 a0001c0008t0001g0010 a0001c0008t0001g0049 a0001c0009t0001g0042 a0001c0009t0001g0099 a0001c0009t0001g0100 a0001c0009t0001g0102 a0001c0009t0001g0103 a0001c0009t0001g0104 a0001c0011t0001g0004 a0001c0011t0001g0029 a0001c0021t0001g0105 a0001c0029t0001g0032 a0001c0040t0001g0002 a0001c0047t0001g0082 a0002c0004t0001g0001 a0002c0004t0001g0013 a0002c0004t0001g0025 a0002c0004t0001g0120 a0002c0004t0001g0136 a0002c0010t0001g0139 a0002c0010t0001g0141 a0002c0033t0001g0089 a0004c0017t0002g0095 a0004c0017t0003g0039 a0004c0027t0002g0041 a0005c0012t0001g0007 a0008c0018t0001g0007 a0013c0053t0001g0002 a0014c0048t0001g0049 a0019c0037t0001g0002 a0020c0036t0001g0002 a0022c0034t0001g0117 a0026c0031t0001g0073	208	414	0.5024	3	c.71 others(12): Show c.717_*718insGTG		CARMIL3	ENSG00000186648.15	transcript	ENST00000342740.6	protein_coding					393		chr14	TogoVar
CARNMT1_chr9_74975790_75033293	75006440	G G	GGTT GGTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18522.hp1 NA18906.hp1 HG02647.hp2 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0279 a0001c0001t0011g0329 a0001c0001t0011g0330 a0001c0001t0011g0279 a0001c0001t0011g0329 a0001c0001t0011g0330	3	366	0.0082	3	c.591 others(20): Show c.591-6573_591-6571dupAAC		CARNMT1	ENSG00000156017.13	transcript	ENST00000376834.8	protein_coding	3/7						chr9	TogoVar
CARNMT1_chr9_74975790_75033293	75008168	T T	TAAA TAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00673.hp2 HG02451.hp1 others(13): Show HG00609.hp2 HG00673.hp2 HG02451.hp1 HG02523.hp2 HG03831.hp2 NA18949.hp2 NA18960.hp2 NA18961.hp2 NA18964.hp1 NA18997.hp1 NA19005.hp1 NA19056.hp1 NA19076.hp1 NA19078.hp1 NA19086.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0002c0003t0003	a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0003g0027 others(12): Show a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0003g0027 a0001c0001t0003g0043 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0250 a0001c0001t0003g0252 a0001c0001t0003g0256 a0001c0001t0003g0273 a0001c0001t0006g0236 a0002c0003t0003g0029	16	366	0.0437	3	c.590 others(20): Show c.590+8097_590+8099dupTTT		CARNMT1	ENSG00000156017.13	transcript	ENST00000376834.8	protein_coding	3/7						chr9	TogoVar
CARNMT1_chr9_74975790_75033293	75020261	T T	TTTC TTTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(156): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02970.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18964.hp1 NA18965.hp1 NA18968.hp1 NA18970.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18983.hp2 NA18984.hp2 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19072.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19081.hp2 NA19082.hp2 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19090.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0018 a0001c0001t0019 a0002c0003t0003	a0001c0001t0001g0022 a0001c0001t0001g0049 a0001c0001t0001g0061 others(140): Show a0001c0001t0001g0022 a0001c0001t0001g0049 a0001c0001t0001g0061 a0001c0001t0001g0196 a0001c0001t0001g0204 a0001c0001t0001g0322 a0001c0001t0001g0326 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0028 a0001c0001t0002g0031 a0001c0001t0002g0038 a0001c0001t0002g0048 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0264 a0001c0001t0002g0267 a0001c0001t0002g0295 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0039 a0001c0001t0003g0059 a0001c0001t0003g0087 a0001c0001t0003g0208 a0001c0001t0003g0210 a0001c0001t0003g0223 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0273 a0001c0001t0003g0328 a0001c0001t0005g0203 a0001c0001t0006g0058 a0001c0001t0006g0207 a0001c0001t0006g0209 a0001c0001t0006g0236 a0001c0001t0007g0281 a0001c0001t0007g0282 a0001c0001t0007g0283 a0001c0001t0007g0284 a0001c0001t0007g0285 a0001c0001t0007g0286 a0001c0001t0007g0287 a0001c0001t0013g0297 a0001c0001t0013g0312 a0001c0001t0018g0288 a0001c0001t0019g0224 a0002c0003t0003g0029	159	366	0.4344	3	c.231 others(20): Show c.231-2816_231-2814dupGAA		CARNMT1	ENSG00000156017.13	transcript	ENST00000376834.8	protein_coding	1/7						chr9	TogoVar
CARNMT1_chr9_74975790_75033293	75022213	C C	CTTT CTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp2 HG02056.hp1 others(4): Show HG00621.hp1 HG00735.hp2 HG02056.hp1 HG02280.hp1 NA19030.hp2 NA19054.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0013 a0001c0001t0002 a0001c0001t0006 a0001c0001t0013	a0001c0001t0002g0296 a0001c0001t0002g0298 a0001c0001t0002g0299 others(4): Show a0001c0001t0002g0296 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0321 a0001c0001t0006g0058 a0001c0001t0013g0297	7	366	0.0191	3	c.231 others(20): Show c.231-4768_231-4766dupAAA		CARNMT1	ENSG00000156017.13	transcript	ENST00000376834.8	protein_coding	1/7						chr9	TogoVar
CARNS1_chr11_67410678_67430604	67412448	C C	CATG CATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG06807.hp2 NA19043.hp2 HG02615.hp1 HG06807.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0013 a0001c0003t0037 a0001c0003t0012 a0001c0003t0013 a0001c0003t0037	a0001c0003t0012g0019 a0001c0003t0013g0019 a0001c0003t0037g0019 a0001c0003t0012g0019 a0001c0003t0013g0019 a0001c0003t0037g0019	3	346	0.0087	3	c.-33 others(14): Show c.-3340_-3339insATG		CARNS1	ENSG00000172508.11	transcript	ENST00000687366.1	protein_coding					3229		chr11	TogoVar
CARNS1_chr11_67410678_67430604	67414349	T T	TAAA TAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01192.hp2 HG02572.hp1 others(4): Show HG00733.hp1 HG01192.hp2 HG02572.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp2 NA18948.hp2	a0002 a0015 a0002 a0015	a0002c0002 a0002c0006 a0015c0015 a0002c0002 a0002c0006 a0015c0015	a0002c0002t0002 a0002c0002t0003 a0002c0002t0020 others(2): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0020 a0002c0006t0002 a0015c0015t0011	a0002c0002t0002g0053 a0002c0002t0003g0004 a0002c0002t0020g0004 others(3): Show a0002c0002t0002g0053 a0002c0002t0003g0004 a0002c0002t0020g0004 a0002c0006t0002g0008 a0002c0006t0002g0011 a0015c0015t0011g0059	7	346	0.0202	3	c.-14 others(14): Show c.-1439_-1438insAAA		CARNS1	ENSG00000172508.11	transcript	ENST00000687366.1	protein_coding					1328		chr11	TogoVar
CARNS1_chr11_67410678_67430604	67415545	C C	CGGG CGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG01099.hp1 others(16): Show HG00099.hp1 HG00140.hp1 HG01099.hp1 HG01255.hp1 HG01517.hp1 HG01928.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp2 HG03453.hp2 HG03516.hp2 HG03831.hp2 NA18906.hp1 NA18941.hp1 NA19055.hp2 NA19083.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0008c0024	a0001c0001t0001 a0001c0001t0005 a0001c0001t0014 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0014 a0001c0003t0044 a0001c0005t0004 a0001c0005t0020 a0001c0005t0022 a0002c0002t0002 a0008c0024t0011	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0005g0001 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0005g0001 a0001c0001t0005g0002 a0001c0001t0005g0015 a0001c0001t0005g0073 a0001c0001t0014g0001 a0001c0003t0044g0058 a0001c0005t0004g0006 a0001c0005t0004g0020 a0001c0005t0004g0033 a0001c0005t0020g0006 a0001c0005t0022g0006 a0002c0002t0002g0013 a0002c0002t0002g0038 a0008c0024t0011g0042	19	346	0.0549	3	c.-24 others(12): Show c.-243_-242insGGG		CARNS1	ENSG00000172508.11	transcript	ENST00000687366.1	protein_coding					132		chr11	TogoVar
CARNS1_chr11_67410678_67430604	67422171	C C	CTTT CTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp2 HG00621.hp1 others(31): Show HG00558.hp2 HG00609.hp2 HG00621.hp1 HG01175.hp2 HG01496.hp2 HG01884.hp2 HG01981.hp2 HG02015.hp1 HG02071.hp1 HG02083.hp1 HG02135.hp2 HG02257.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03453.hp2 HG03516.hp2 HG03540.hp2 NA18522.hp2 NA18906.hp1 NA18942.hp2 NA18946.hp2 NA18963.hp1 NA19005.hp2 NA19055.hp2 NA19083.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0004 a0001c0005 others(3): Show a0001c0001 a0001c0004 a0001c0005 a0002c0002 a0002c0007 a0008c0024	a0001c0001t0008 a0001c0004t0006 a0001c0004t0010 others(9): Show a0001c0001t0008 a0001c0004t0006 a0001c0004t0010 a0001c0004t0012 a0001c0004t0036 a0001c0005t0004 a0001c0005t0011 a0001c0005t0020 a0001c0005t0022 a0002c0002t0002 a0002c0007t0002 a0008c0024t0011	a0001c0001t0008g0061 a0001c0004t0006g0010 a0001c0004t0010g0010 others(13): Show a0001c0001t0008g0061 a0001c0004t0006g0010 a0001c0004t0010g0010 a0001c0004t0012g0010 a0001c0004t0036g0010 a0001c0005t0004g0006 a0001c0005t0004g0049 a0001c0005t0011g0006 a0001c0005t0011g0050 a0001c0005t0020g0006 a0001c0005t0022g0006 a0002c0002t0002g0013 a0002c0002t0002g0038 a0002c0007t0002g0012 a0002c0007t0002g0035 a0008c0024t0011g0042	34	346	0.0983	3	c.162 others(20): Show c.1626+980_1626+982dupTTT		CARNS1	ENSG00000172508.11	transcript	ENST00000687366.1	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr11	TogoVar
CARNS1_chr11_67410678_67430604	67427073	G G	GTTT GTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp2 NA18947.hp2 others(3): Show HG03704.hp1 HG03704.hp2 NA18947.hp2 NA18967.hp2 NA19058.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0010 a0001c0001t0001 a0001c0004t0010	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0004t0010g0009 a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0004t0010g0009	6	346	0.0173	3	c.24 others(14): Show c.2472_*2473insTTT		CARNS1	ENSG00000172508.11	transcript	ENST00000687366.1	protein_coding					1470		chr11	TogoVar
CARS1_chr11_2995929_3062423	2997901	G G	GGTT GGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02451.hp2 HG02630.hp1 others(4): Show HG01884.hp2 HG02451.hp2 HG02630.hp1 HG02886.hp1 HG02970.hp1 HG03453.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0085 a0001c0001t0001g0219 a0001c0001t0001g0220 others(4): Show a0001c0001t0001g0085 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0237 a0001c0009t0001g0217	7	321	0.0218	3	c.32 others(14): Show c.3212_*3213insAAC		CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding					3027		chr11	TogoVar
CARS1_chr11_2995929_3062423	2997904	T T	TTTG TTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG01123.hp2 HG01257.hp2 others(15): Show HG00673.hp1 HG01123.hp2 HG01257.hp2 HG01975.hp2 HG01978.hp2 HG02027.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp2 HG03927.hp1 NA18946.hp2 NA18948.hp2 NA18951.hp2 NA18977.hp1 NA19009.hp2 NA19064.hp1 NA19074.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0104 a0001c0002t0001g0105 others(14): Show a0001c0002t0001g0001 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0126 a0001c0002t0001g0129 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0137 a0001c0002t0001g0156 a0001c0002t0001g0160 a0001c0002t0001g0176 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0280 a0001c0002t0001g0289	18	321	0.0561	3	c.32 others(14): Show c.3209_*3210insCAA		CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding					3024		chr11	TogoVar
CARS1_chr11_2995929_3062423	2997908	T T	TTTG TTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00438.hp1 others(74): Show HG00280.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00673.hp2 HG00735.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01168.hp1 HG01169.hp2 HG01256.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01943.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02129.hp1 HG02165.hp1 HG02523.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG02738.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp1 HG03710.hp2 HG03834.hp1 HG04115.hp1 NA18747.hp1 NA18939.hp2 NA18942.hp1 NA18945.hp2 NA18947.hp1 NA18952.hp2 NA18961.hp2 NA18964.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18987.hp1 NA18990.hp1 NA18994.hp2 NA19002.hp1 NA19003.hp1 NA19007.hp2 NA19009.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19070.hp2 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0010	a0001c0002 a0001c0014 a0001c0015 others(3): Show a0001c0002 a0001c0014 a0001c0015 a0004c0007 a0006c0011 a0010c0018	a0001c0002t0001 a0001c0014t0001 a0001c0015t0001 others(3): Show a0001c0002t0001 a0001c0014t0001 a0001c0015t0001 a0004c0007t0001 a0006c0011t0001 a0010c0018t0001	a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0010 others(66): Show a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0039 a0001c0002t0001g0106 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0130 a0001c0002t0001g0133 a0001c0002t0001g0136 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0180 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0226 a0001c0002t0001g0290 a0001c0014t0001g0120 a0001c0015t0001g0086 a0004c0007t0001g0111 a0006c0011t0001g0163 a0010c0018t0001g0171	77	321	0.2399	3	c.32 others(14): Show c.3205_*3206insCAA		CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding					3020		chr11	TogoVar
CARS2_chr13_110636417_110711116	110641142	A A	ATGC ATGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00438.hp1 others(68): Show HG00280.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 HG00642.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01109.hp2 HG01243.hp1 HG01891.hp2 HG01993.hp1 HG01993.hp2 HG02109.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02647.hp1 HG02717.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03927.hp1 HG04115.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18964.hp1 NA18964.hp2 NA18972.hp1 NA18974.hp1 NA18980.hp2 NA18981.hp1 NA18990.hp2 NA18993.hp2 NA19000.hp1 NA19002.hp1 NA19007.hp1 NA19011.hp1 NA19030.hp2 NA19055.hp2 NA19064.hp1 NA19065.hp2 NA19068.hp2 NA19074.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0007 a0012	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0020 a0002c0004 a0002c0008 a0003c0006 a0003c0011 a0006c0015 a0007c0014 a0012c0023	a0001c0001t0002 a0001c0002t0002 a0001c0003t0001 others(11): Show a0001c0001t0002 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0005t0001 a0001c0005t0002 a0001c0020t0002 a0002c0004t0002 a0002c0008t0003 a0003c0006t0002 a0003c0011t0002 a0006c0015t0002 a0007c0014t0002 a0012c0023t0002	a0001c0001t0002g0074 a0001c0001t0002g0084 a0001c0001t0002g0145 others(64): Show a0001c0001t0002g0074 a0001c0001t0002g0084 a0001c0001t0002g0145 a0001c0001t0002g0156 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0310 a0001c0001t0002g0313 a0001c0001t0002g0315 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0002t0002g0020 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0248 a0001c0002t0002g0254 a0001c0002t0002g0258 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0003t0001g0343 a0001c0003t0002g0021 a0001c0003t0002g0022 a0001c0003t0002g0283 a0001c0003t0002g0284 a0001c0003t0002g0285 a0001c0003t0002g0286 a0001c0003t0002g0287 a0001c0003t0002g0288 a0001c0003t0002g0289 a0001c0003t0002g0293 a0001c0003t0002g0304 a0001c0003t0002g0305 a0001c0003t0002g0309 a0001c0003t0002g0312 a0001c0003t0002g0314 a0001c0003t0002g0316 a0001c0003t0002g0319 a0001c0005t0001g0014 a0001c0005t0002g0135 a0001c0020t0002g0303 a0002c0004t0002g0043 a0002c0004t0002g0058 a0002c0004t0002g0241 a0002c0008t0003g0246 a0003c0006t0002g0023 a0003c0006t0002g0322 a0003c0006t0002g0323 a0003c0006t0002g0326 a0003c0006t0002g0327 a0003c0006t0002g0328 a0003c0006t0002g0329 a0003c0006t0002g0330 a0003c0006t0002g0331 a0003c0006t0002g0332 a0003c0006t0002g0333 a0003c0006t0002g0336 a0003c0006t0002g0338 a0003c0006t0002g0340 a0003c0006t0002g0341 a0003c0006t0002g0342 a0003c0011t0002g0243 a0003c0011t0002g0255 a0006c0015t0002g0064 a0006c0015t0002g0065 a0007c0014t0002g0252 a0012c0023t0002g0339	71	372	0.1909	3	c.39 others(12): Show c.394_*395insGCA		CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding					274		chr13	TogoVar
CARS2_chr13_110636417_110711116	110647516	C C	CGGA CGGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00438.hp1 others(128): Show HG00280.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00642.hp2 HG01069.hp2 HG01071.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01358.hp2 HG01361.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02148.hp2 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18956.hp2 NA18957.hp2 NA18963.hp1 NA18964.hp1 NA18967.hp1 NA18972.hp1 NA18974.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18990.hp2 NA18993.hp2 NA18994.hp1 NA18997.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp2 NA19064.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp1 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19087.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0007 a0010 a0012	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0020 a0002c0004 a0003c0006 a0003c0011 a0006c0015 a0007c0014 a0010c0018 a0012c0023	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(13): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0020t0002 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0003c0006t0002 a0003c0011t0002 a0006c0015t0002 a0007c0014t0002 a0010c0018t0002 a0012c0023t0002	a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 others(121): Show a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0313 a0001c0001t0002g0315 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0002t0001g0233 a0001c0002t0001g0265 a0001c0002t0002g0020 a0001c0002t0002g0242 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0248 a0001c0002t0002g0254 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0261 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0003g0268 a0001c0002t0003g0269 a0001c0002t0003g0270 a0001c0003t0001g0240 a0001c0003t0001g0290 a0001c0003t0001g0292 a0001c0003t0001g0297 a0001c0003t0001g0325 a0001c0003t0001g0343 a0001c0003t0002g0006 a0001c0003t0002g0021 a0001c0003t0002g0022 a0001c0003t0002g0066 a0001c0003t0002g0283 a0001c0003t0002g0284 a0001c0003t0002g0285 a0001c0003t0002g0286 a0001c0003t0002g0287 a0001c0003t0002g0288 a0001c0003t0002g0289 a0001c0003t0002g0291 a0001c0003t0002g0293 a0001c0003t0002g0295 a0001c0003t0002g0296 a0001c0003t0002g0298 a0001c0003t0002g0299 a0001c0003t0002g0301 a0001c0003t0002g0304 a0001c0003t0002g0305 a0001c0003t0002g0309 a0001c0003t0002g0312 a0001c0003t0002g0314 a0001c0003t0002g0316 a0001c0003t0002g0319 a0001c0003t0002g0320 a0001c0020t0002g0303 a0002c0004t0001g0007 a0002c0004t0001g0027 a0002c0004t0001g0028 a0002c0004t0001g0029 a0002c0004t0001g0030 a0002c0004t0001g0031 a0002c0004t0001g0032 a0002c0004t0001g0035 a0002c0004t0001g0036 a0002c0004t0001g0037 a0002c0004t0001g0038 a0002c0004t0001g0039 a0002c0004t0001g0040 a0002c0004t0001g0041 a0002c0004t0001g0042 a0002c0004t0001g0044 a0002c0004t0001g0045 a0002c0004t0001g0046 a0002c0004t0001g0047 a0002c0004t0001g0048 a0002c0004t0001g0049 a0002c0004t0001g0050 a0002c0004t0001g0051 a0002c0004t0001g0052 a0002c0004t0001g0053 a0002c0004t0001g0054 a0002c0004t0001g0055 a0002c0004t0001g0056 a0002c0004t0001g0057 a0002c0004t0001g0221 a0002c0004t0001g0222 a0002c0004t0001g0238 a0002c0004t0002g0043 a0002c0004t0002g0058 a0002c0004t0002g0241 a0002c0004t0003g0239 a0002c0004t0003g0302 a0003c0006t0002g0023 a0003c0006t0002g0321 a0003c0006t0002g0322 a0003c0006t0002g0323 a0003c0006t0002g0324 a0003c0006t0002g0326 a0003c0006t0002g0327 a0003c0006t0002g0328 a0003c0006t0002g0329 a0003c0006t0002g0330 a0003c0006t0002g0331 a0003c0006t0002g0332 a0003c0006t0002g0333 a0003c0006t0002g0334 a0003c0006t0002g0335 a0003c0006t0002g0336 a0003c0006t0002g0338 a0003c0006t0002g0340 a0003c0006t0002g0341 a0003c0006t0002g0342 a0003c0011t0002g0243 a0003c0011t0002g0255 a0003c0011t0002g0256 a0006c0015t0002g0064 a0006c0015t0002g0065 a0007c0014t0002g0252 a0007c0014t0002g0253 a0010c0018t0002g0266 a0012c0023t0002g0339	131	372	0.3522	3	c.105 others(20): Show c.1055-278_1055-277insTCC		CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	10/14						chr13	TogoVar
CARS2_chr13_110636417_110711116	110654921	C C	CAAA CAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01192.hp2 HG01358.hp2 others(4): Show HG01099.hp2 HG01192.hp2 HG01358.hp2 HG01928.hp2 HG02148.hp2 NA18993.hp2 NA19065.hp2	a0002 a0010 a0002 a0010	a0002c0004 a0010c0018 a0002c0004 a0010c0018	a0002c0004t0001 a0002c0004t0002 a0010c0018t0002 a0002c0004t0001 a0002c0004t0002 a0010c0018t0002	a0002c0004t0001g0044 a0002c0004t0001g0045 a0002c0004t0001g0046 others(4): Show a0002c0004t0001g0044 a0002c0004t0001g0045 a0002c0004t0001g0046 a0002c0004t0001g0047 a0002c0004t0002g0043 a0002c0004t0002g0058 a0010c0018t0002g0266	7	372	0.0188	3	c.988 others(20): Show c.988-3824_988-3822dupTTT		CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	9/14						chr13	TogoVar
CARS2_chr13_110636417_110711116	110692001	A A	ATAT ATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18612.hp1 NA18747.hp2 HG00408.hp2 NA18612.hp1 NA18747.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0322 a0003c0006t0002g0323 a0003c0006t0002g0332 a0003c0006t0002g0322 a0003c0006t0002g0323 a0003c0006t0002g0332	3	372	0.0081	3	c.394 others(20): Show c.394-3984_394-3983insATA		CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	3/14						chr13	TogoVar
CARS2_chr13_110636417_110711116	110692003	A A	ATAT ATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01069.hp2 HG01071.hp1 others(13): Show HG00558.hp1 HG01069.hp2 HG01071.hp1 HG01243.hp1 HG01993.hp1 HG02074.hp2 HG03017.hp1 HG06807.hp2 NA18949.hp2 NA18950.hp2 NA18972.hp1 NA19000.hp1 NA19068.hp2 NA19079.hp2 NA19240.hp2 NA20752.hp2	a0001 a0003 a0012 a0001 a0003 a0012	a0001c0003 a0003c0006 a0012c0023 a0001c0003 a0003c0006 a0012c0023	a0001c0003t0001 a0003c0006t0002 a0012c0023t0002 a0001c0003t0001 a0003c0006t0002 a0012c0023t0002	a0001c0003t0001g0247 a0001c0003t0001g0325 a0001c0003t0001g0343 others(12): Show a0001c0003t0001g0247 a0001c0003t0001g0325 a0001c0003t0001g0343 a0003c0006t0002g0023 a0003c0006t0002g0321 a0003c0006t0002g0324 a0003c0006t0002g0326 a0003c0006t0002g0327 a0003c0006t0002g0328 a0003c0006t0002g0333 a0003c0006t0002g0336 a0003c0006t0002g0340 a0003c0006t0002g0341 a0003c0006t0002g0342 a0012c0023t0002g0339	16	372	0.0430	3	c.394 others(20): Show c.394-3986_394-3985insATA		CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	3/14						chr13	TogoVar
CASC3_chr17_40135537_40177171	40140349	C C	CACA CACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 NA18966.hp1 NA18999.hp2 others(3): Show HG02040.hp1 NA18966.hp1 NA18999.hp2 NA19002.hp2 NA19062.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0127 a0001c0001t0001g0147 others(3): Show a0001c0001t0001g0074 a0001c0001t0001g0127 a0001c0001t0001g0147 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0210	6	266	0.0226	3	c.-20 others(12): Show c.-200_-199insACA		CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding					187		chr17	TogoVar
CASC3_chr17_40135537_40177171	40164430	A A	ATTT ATTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01109.hp2 HG02109.hp2 others(7): Show HG01081.hp1 HG01109.hp2 HG02109.hp2 HG02572.hp1 HG02886.hp1 HG02970.hp2 HG03195.hp2 HG03225.hp1 NA19030.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0241 others(7): Show a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0009g0110	10	266	0.0376	3	c.147 others(20): Show c.1471+273_1471+275dupTTT		CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
CASC3_chr17_40135537_40177171	40164750	C C	CTTT CTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01109.hp2 HG01496.hp1 others(12): Show HG01081.hp1 HG01109.hp2 HG01496.hp1 HG01496.hp2 HG02109.hp2 HG02155.hp1 HG02723.hp1 HG02886.hp1 HG02976.hp2 HG03130.hp2 HG03195.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0060 others(10): Show a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0060 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0125 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0009g0110	15	266	0.0564	3	c.147 others(20): Show c.1471+605_1471+607dupTTT		CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
CASC3_chr17_40135537_40177171	40172969	T T	TGTG TGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG01123.hp1 others(5): Show HG00621.hp1 HG00621.hp2 HG01123.hp1 HG02015.hp1 HG02015.hp2 HG03492.hp2 NA18944.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0101 others(5): Show a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0101 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0154 a0001c0001t0001g0178 a0001c0001t0001g0192	8	266	0.0301	3	c.25 others(14): Show c.2564_*2565insGTG		CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding					799		chr17	TogoVar
CASKIN1_chr16_2172180_2201605	2179036	C C	CGCG CGCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01069.hp1 HG01433.hp1 HG02109.hp2 others(17): Show HG01069.hp1 HG01433.hp1 HG02109.hp2 HG02257.hp1 HG02622.hp1 HG02683.hp2 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03130.hp1 HG03130.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18971.hp2 NA21309.hp2	a0002 a0005 a0019 others(1): Show a0002 a0005 a0019 a0021	a0002c0002 a0005c0008 a0019c0034 others(1): Show a0002c0002 a0005c0008 a0019c0034 a0021c0033	a0002c0002t0001 a0002c0002t0022 a0002c0002t0025 others(3): Show a0002c0002t0001 a0002c0002t0022 a0002c0002t0025 a0005c0008t0001 a0019c0034t0001 a0021c0033t0001	a0002c0002t0001g0004 a0002c0002t0001g0071 a0002c0002t0001g0094 others(9): Show a0002c0002t0001g0004 a0002c0002t0001g0071 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0147 a0002c0002t0001g0189 a0002c0002t0022g0096 a0002c0002t0025g0107 a0005c0008t0001g0030 a0005c0008t0001g0188 a0019c0034t0001g0056 a0021c0033t0001g0105	20	350	0.0571	3	c.406 others(12): Show c.4062_4064dupCGC	p.Ala others(7): Show p.Ala1355dup	CASKIN1	ENSG00000167971.16	transcript	ENST00000343516.8	protein_coding	19/20	4237/5839	4064/4296	1355/1431			chr16	TogoVar
CASKIN2_chr17_75495261_75520537	75508481	A A	ATGC ATGC	intron_variant intron_variant	MODIFIER	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 HG01928.hp2 HG02486.hp2 HG02602.hp2 HG02683.hp1 HG02818.hp2 HG02965.hp1 HG03017.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 a0001c0001t0002g0098 a0001c0002t0002g0015 others(6): Show a0001c0001t0002g0008 a0001c0001t0002g0098 a0001c0002t0002g0015 a0001c0002t0002g0099 a0001c0002t0002g0180 a0001c0009t0002g0018 a0001c0031t0002g0096 a0001c0038t0002g0097 a0002c0003t0002g0095	23	414	0.0556	3	c.95- others(16): Show c.95-199_95-197dupGCA		CASKIN2	ENSG00000177303.10	transcript	ENST00000321617.8	protein_coding	2/19						chr17	TogoVar
CASK_chrX_41509934_41928554	41517770	T T	TAGC TAGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp1 HG01891.hp2 HG02109.hp1 others(11): Show HG00609.hp1 HG01891.hp2 HG02109.hp1 HG02572.hp1 HG02738.hp1 HG02922.hp2 HG03209.hp1 HG03225.hp1 NA18612.hp1 NA18957.hp1 NA18960.hp1 NA19043.hp1 NA19074.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0010 a0001c0001t0021 others(1): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0021 a0001c0002t0003	a0001c0001t0003g0007 a0001c0001t0003g0048 a0001c0001t0003g0061 others(11): Show a0001c0001t0003g0007 a0001c0001t0003g0048 a0001c0001t0003g0061 a0001c0001t0003g0068 a0001c0001t0003g0075 a0001c0001t0003g0111 a0001c0001t0003g0116 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0142 a0001c0001t0003g0151 a0001c0001t0010g0057 a0001c0001t0021g0146 a0001c0002t0003g0124	14	164	0.0854	3	c.26 others(14): Show c.2647_*2649dupGCT		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	27/27				2649		chrX	TogoVar
CASK_chrX_41509934_41928554	41537818	T T	TTTA TTTA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00673.hp1 HG00735.hp2 others(25): Show HG00323.hp2 HG00673.hp1 HG00735.hp2 HG01071.hp2 HG01255.hp1 HG01891.hp1 HG01943.hp1 HG02015.hp1 HG02896.hp1 HG02922.hp1 HG03654.hp1 HG04199.hp1 HG06807.hp1 NA18940.hp1 NA18944.hp1 NA18959.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18994.hp1 NA19009.hp1 NA19055.hp1 NA19063.hp1 NA19070.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0023 a0001c0007t0027	a0001c0001t0001g0011 a0001c0001t0001g0041 a0001c0001t0001g0070 others(25): Show a0001c0001t0001g0011 a0001c0001t0001g0041 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0095 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0128 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0004g0050 a0001c0001t0004g0090 a0001c0001t0008g0001 a0001c0001t0009g0080 a0001c0001t0011g0045 a0001c0001t0014g0052 a0001c0001t0023g0107 a0001c0007t0027g0160	28	164	0.1707	3	c.215 others(22): Show c.2156-2848_2156-2846dupTAA		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	22/26						chrX	TogoVar
CASK_chrX_41509934_41928554	41563356	C C	CAAA CAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG06807.hp2 HG02109.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0024 a0001c0001t0007 a0001c0001t0024	a0001c0001t0007g0006 a0001c0001t0024g0003 a0001c0001t0007g0006 a0001c0001t0024g0003	2	164	0.0122	3	c.158 others(22): Show c.1583-1715_1583-1713dupTTT		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	16/26						chrX	TogoVar
CASK_chrX_41509934_41928554	41612117	C C	CCCA CCCA	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0027 a0003c0004t0001g0027	1	164	0.0061	3	c.103 others(22): Show c.1034-2093_1034-2092insTGG		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	11/26						chrX	TogoVar
CASK_chrX_41509934_41928554	41633050	A A	AAAT AAAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0027 a0001c0007t0027	a0001c0007t0027g0160 a0001c0007t0027g0160	1	164	0.0061	3	c.915 others(20): Show c.915+3527_915+3528insATT		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	9/26						chrX	TogoVar
CASK_chrX_41509934_41928554	41633596	C C	CTTT CTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0006 a0001c0001t0007g0006	1	164	0.0061	3	c.915 others(20): Show c.915+2979_915+2981dupAAA		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	9/26						chrX	TogoVar
CASK_chrX_41509934_41928554	41682529	G G	GAAA GAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02683.hp2 HG03654.hp1 others(2): Show HG01433.hp1 HG02683.hp2 HG03654.hp1 NA19056.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0106 a0001c0001t0001g0138 others(2): Show a0001c0001t0001g0040 a0001c0001t0001g0106 a0001c0001t0001g0138 a0001c0001t0001g0156 a0001c0001t0001g0158	5	164	0.0305	3	c.430 others(22): Show c.430-11002_430-11000dupTTT		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	5/26						chrX	TogoVar
CASK_chrX_41509934_41928554	41687965	C C	CAAA CAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0006 a0001c0001t0007g0006	1	164	0.0061	3	c.430 others(22): Show c.430-16438_430-16436dupTTT		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	5/26						chrX	TogoVar
CASK_chrX_41509934_41928554	41691840	C C	CAAA CAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0150 a0001c0001t0015g0150	1	164	0.0061	3	c.430 others(22): Show c.430-20313_430-20311dupTTT		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	5/26						chrX	TogoVar
CASK_chrX_41509934_41928554	41700931	C C	CAAA CAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00609.hp1 others(86): Show HG00140.hp1 HG00323.hp2 HG00609.hp1 HG00642.hp1 HG01069.hp1 HG01071.hp1 HG01106.hp1 HG01123.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02132.hp1 HG02145.hp1 HG02300.hp1 HG02602.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03225.hp1 HG03239.hp1 HG03492.hp1 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG04115.hp1 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18948.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18994.hp1 NA19000.hp1 NA19004.hp1 NA19007.hp1 NA19009.hp1 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19072.hp1 NA19074.hp2 NA19082.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0029 a0001c0002t0003 a0001c0005t0001 a0002c0003t0001 a0003c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0022 others(86): Show a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0003g0048 a0001c0001t0003g0061 a0001c0001t0003g0075 a0001c0001t0003g0111 a0001c0001t0003g0130 a0001c0001t0003g0142 a0001c0001t0004g0073 a0001c0001t0004g0082 a0001c0001t0004g0090 a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0004g0121 a0001c0001t0004g0133 a0001c0001t0005g0063 a0001c0001t0005g0064 a0001c0001t0005g0065 a0001c0001t0005g0103 a0001c0001t0006g0039 a0001c0001t0006g0115 a0001c0001t0008g0001 a0001c0001t0009g0080 a0001c0001t0010g0057 a0001c0001t0011g0045 a0001c0001t0014g0052 a0001c0001t0016g0049 a0001c0001t0017g0025 a0001c0001t0018g0132 a0001c0001t0019g0088 a0001c0001t0021g0146 a0001c0001t0022g0055 a0001c0001t0029g0164 a0001c0002t0003g0124 a0001c0005t0001g0066 a0002c0003t0001g0125 a0003c0004t0001g0027	89	164	0.5427	3	c.430 others(22): Show c.430-29404_430-29402dupTTT		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	5/26						chrX	TogoVar
CASK_chrX_41509934_41928554	41710132	T T	TGTG TGTG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0037 a0001c0001t0006g0037	1	164	0.0061	3	c.429 others(22): Show c.429+29251_429+29252insCAC		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	5/26						chrX	TogoVar
CASK_chrX_41509934_41928554	41729781	A A	ATAT ATAT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0038 a0001c0001t0006g0038	1	164	0.0061	3	c.429 others(20): Show c.429+9602_429+9603insATA		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	5/26						chrX	TogoVar
CASK_chrX_41509934_41928554	41740470	T T	TAAA TAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0008 a0001c0001t0026g0008	1	164	0.0061	3	c.357 others(20): Show c.357-1017_357-1015dupTTT		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	4/26						chrX	TogoVar
CASK_chrX_41509934_41928554	41769943	T T	TCAA TCAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	164	0.0061	3	c.278 others(22): Show c.278+17232_278+17234dupTTG		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	3/26						chrX	TogoVar
CASK_chrX_41509934_41928554	41777488	C C	CAAA CAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02622.hp1 HG02896.hp2 others(1): Show HG02109.hp2 HG02622.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0026 a0001c0001t0006 a0001c0001t0007 a0001c0001t0026	a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0007g0006 others(1): Show a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0007g0006 a0001c0001t0026g0008	4	164	0.0244	3	c.278 others(20): Show c.278+9687_278+9689dupTTT		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	3/26						chrX	TogoVar
CASK_chrX_41509934_41928554	41783548	C C	CAAA CAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG06807.hp2 HG02109.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0024 a0001c0001t0007 a0001c0001t0024	a0001c0001t0007g0006 a0001c0001t0024g0003 a0001c0001t0007g0006 a0001c0001t0024g0003	2	164	0.0122	3	c.278 others(20): Show c.278+3627_278+3629dupTTT		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	3/26						chrX	TogoVar
CASK_chrX_41509934_41928554	41788263	A A	AAAC AAAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(15): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00735.hp2 HG01071.hp2 HG01099.hp1 HG01123.hp2 HG02683.hp1 HG02735.hp1 HG03239.hp2 HG03490.hp1 HG04228.hp1 NA18957.hp2 NA18973.hp2 NA18990.hp1 NA19074.hp1 NA19077.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0002g0009 others(15): Show a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036	18	164	0.1098	3	c.173 others(18): Show c.173-983_173-981dupGTT		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26						chrX	TogoVar
CASK_chrX_41509934_41928554	41788300	T T	TATC TATC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02683.hp1 HG03490.hp1 others(2): Show HG01358.hp1 HG02683.hp1 HG03490.hp1 HG03942.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0058 a0001c0001t0001g0152 a0001c0001t0002g0010 others(2): Show a0001c0001t0001g0058 a0001c0001t0001g0152 a0001c0001t0002g0010 a0001c0001t0002g0030 a0001c0001t0002g0031	5	164	0.0305	3	c.173 others(20): Show c.173-1020_173-1018dupGAT		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26						chrX	TogoVar
CASK_chrX_41509934_41928554	41818194	T T	TGTG TGTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA18948.hp1 HG02055.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0122 a0001c0001t0015g0150 a0001c0001t0001g0122 a0001c0001t0015g0150	2	164	0.0122	3	c.173 others(22): Show c.173-30912_173-30911insCAC		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26						chrX	TogoVar
CASK_chrX_41509934_41928554	41829756	T T	TATA TATA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	164	0.0061	3	c.172 others(22): Show c.172+23358_172+23359insTAT		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26						chrX	TogoVar
CASK_chrX_41509934_41928554	41830817	C C	CAAA CAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	164	0.0061	3	c.172 others(22): Show c.172+22295_172+22297dupTTT		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26						chrX	TogoVar
CASK_chrX_41509934_41928554	41856795	C C	CAAA CAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0028 a0001c0006t0028	a0001c0006t0028g0018 a0001c0006t0028g0018	1	164	0.0061	3	c.60- others(18): Show c.60-3571_60-3569dupTTT		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	1/26						chrX	TogoVar
CASK_chrX_41509934_41928554	41869812	C C	CAAA CAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03579.hp1 HG03471.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0025 a0001c0006t0028 a0001c0001t0025 a0001c0006t0028	a0001c0001t0025g0019 a0001c0006t0028g0018 a0001c0001t0025g0019 a0001c0006t0028g0018	2	164	0.0122	3	c.60- others(20): Show c.60-16588_60-16586dupTTT		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	1/26						chrX	TogoVar

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