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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⚠️ 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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CARHSP1_chr16_8847947_8874006	8857263	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp1 HG02280.hp1 others(3): Show HG01891.hp1 HG02258.hp1 HG02280.hp1 HG02602.hp2 HG03209.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0011 a0001c0002t0022 others(1): Show a0001c0001t0003 a0001c0002t0011 a0001c0002t0022 a0001c0002t0046	a0001c0001t0003g0211 a0001c0002t0011g0237 a0001c0002t0011g0246 others(3): Show a0001c0001t0003g0211 a0001c0002t0011g0237 a0001c0002t0011g0246 a0001c0002t0011g0248 a0001c0002t0022g0026 a0001c0002t0046g0315	6	470	0.0128	-14	c.281 others(31): Show c.281+1073_281+1086delAAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/3			chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8861158	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp2 others(104): Show HG00099.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02300.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02818.hp2 HG02922.hp2 HG02970.hp1 HG03017.hp2 HG03491.hp1 HG03579.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18747.hp1 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18948.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18969.hp1 NA18971.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19077.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0025 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0025 a0001c0001t0035 a0001c0001t0036 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0029 a0001c0002t0031 a0001c0002t0044 a0001c0003t0010	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0011 others(97): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0150 a0001c0001t0001g0194 a0001c0001t0001g0236 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0316 a0001c0001t0001g0322 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0349 a0001c0001t0001g0369 a0001c0001t0001g0385 a0001c0001t0001g0386 a0001c0001t0001g0388 a0001c0001t0001g0418 a0001c0001t0001g0424 a0001c0001t0001g0431 a0001c0001t0001g0433 a0001c0001t0001g0435 a0001c0001t0002g0135 a0001c0001t0002g0291 a0001c0001t0002g0294 a0001c0001t0025g0300 a0001c0001t0035g0131 a0001c0001t0036g0118 a0001c0002t0001g0037 a0001c0002t0001g0336 a0001c0002t0002g0009 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0054 a0001c0002t0002g0134 a0001c0002t0002g0139 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0151 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0181 a0001c0002t0002g0232 a0001c0002t0002g0241 a0001c0002t0002g0302 a0001c0002t0002g0438 a0001c0002t0008g0027 a0001c0002t0029g0304 a0001c0002t0031g0235 a0001c0002t0044g0193 a0001c0003t0010g0307 a0001c0003t0010g0390 a0001c0003t0010g0397	107	470	0.2277	-14	c.-7- others(29): Show c.-7-1837_-7-1824delAAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	1/3			chr16	TogoVar
CARMIL1_chr6_25274374_25625530	25281132	GCGCGCAC others(7): Show GCGCGCACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG02257.hp2 others(3): Show HG01243.hp1 HG01884.hp1 HG02257.hp2 HG02572.hp2 HG03209.hp2 NA19043.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005 a0006c0016	a0001c0001t0021 a0001c0002t0022 a0001c0003t0023 others(2): Show a0001c0001t0021 a0001c0002t0022 a0001c0003t0023 a0002c0005t0024 a0006c0016t0005	a0001c0001t0021g0163 a0001c0002t0022g0164 a0001c0003t0023g0161 others(3): Show a0001c0001t0021g0163 a0001c0002t0022g0164 a0001c0003t0023g0161 a0002c0005t0024g0162 a0006c0016t0005g0165 a0006c0016t0005g0168	6	186	0.0323	-14	c.40+ others(29): Show c.40+1299_40+1312delGCGCACACACACAC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25354330	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0143 a0001c0001t0007g0143	1	186	0.0054	-14	c.139 others(33): Show c.139-65768_139-65755delTTTTTTTTTTTTTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25392054	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp2 HG01361.hp1 HG01361.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0013 a0001c0004 a0002c0013	a0001c0004t0004 a0002c0013t0010 a0001c0004t0004 a0002c0013t0010	a0001c0004t0004g0023 a0002c0013t0010g0047 a0001c0004t0004g0023 a0002c0013t0010g0047	2	186	0.0108	-14	c.139 others(33): Show c.139-28028_139-28015delGTGTGTGTGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL3_chr14_24047009_24074729	24051679	GAGTCAGC others(7): Show GAGTCAGCAAGGACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0025 a0002c0004t0001g0025	1	414	0.0024	-14	c.-47 others(23): Show c.-474_-461delAGTCAGCAAGGACA	CARMIL3	ENSG00000186648.15	transcript	ENST00000342740.6	protein_coding		329		chr14	TogoVar
CARMIL3_chr14_24047009_24074729	24053631	CCTCTATC others(7): Show CCTCTATCTGGAGAG	C C	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0075 a0001c0002t0001g0075	1	414	0.0024	-14	c.41- others(25): Show c.41-73_41-60delATCTGGAGAGCTCT	CARMIL3	ENSG00000186648.15	transcript	ENST00000342740.6	protein_coding	1/39		INFO_REALIGN_3_PRIME	chr14	TogoVar
CARNS1_chr11_67410678_67430604	67427073	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0025 a0001c0003t0025	a0001c0003t0025g0039 a0001c0003t0025g0039	1	346	0.0029	-14	c.24 others(25): Show c.2473_*2486delTTTTTTTTTTTTTT	CARNS1	ENSG00000172508.11	transcript	ENST00000687366.1	protein_coding		1470		chr11	TogoVar
CARS2_chr13_110636417_110711116	110679585	AAGAAAGA others(7): Show AAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(151): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02109.hp1 HG02155.hp1 HG02257.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03492.hp2 HG03540.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18956.hp1 NA18959.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18990.hp1 NA18993.hp1 NA18994.hp2 NA18997.hp1 NA19000.hp2 NA19001.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19009.hp2 NA19055.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0008 a0009 a0013 a0014 a0015 a0017	a0001c0001 a0001c0003 a0001c0005 others(13): Show a0001c0001 a0001c0003 a0001c0005 a0001c0025 a0001c0027 a0002c0004 a0002c0008 a0003c0024 a0003c0028 a0005c0010 a0008c0013 a0009c0016 a0013c0029 a0014c0030 a0015c0022 a0017c0026	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0005t0001 a0001c0005t0002 a0001c0025t0001 a0001c0027t0001 a0002c0004t0001 a0002c0008t0003 a0003c0024t0001 a0003c0028t0001 a0005c0010t0001 a0008c0013t0001 a0009c0016t0001 a0013c0029t0001 a0014c0030t0001 a0015c0022t0001 a0017c0026t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(137): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0257 a0001c0001t0002g0074 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0145 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0003t0001g0219 a0001c0003t0001g0220 a0001c0005t0001g0002 a0001c0005t0001g0010 a0001c0005t0001g0014 a0001c0005t0001g0078 a0001c0005t0001g0092 a0001c0005t0001g0093 a0001c0005t0001g0133 a0001c0005t0001g0134 a0001c0005t0001g0136 a0001c0005t0001g0138 a0001c0005t0001g0140 a0001c0005t0001g0141 a0001c0005t0001g0150 a0001c0005t0001g0170 a0001c0005t0001g0171 a0001c0005t0001g0172 a0001c0005t0001g0173 a0001c0005t0001g0174 a0001c0005t0001g0177 a0001c0005t0001g0178 a0001c0005t0001g0232 a0001c0005t0001g0337 a0001c0005t0002g0135 a0001c0025t0001g0111 a0001c0027t0001g0175 a0002c0004t0001g0238 a0002c0008t0003g0246 a0003c0024t0001g0148 a0003c0028t0001g0137 a0005c0010t0001g0100 a0005c0010t0001g0101 a0005c0010t0001g0107 a0008c0013t0001g0025 a0008c0013t0001g0026 a0009c0016t0001g0024 a0013c0029t0001g0176 a0014c0030t0001g0139 a0015c0022t0001g0112 a0017c0026t0001g0087	154	372	0.4140	-14	c.656 others(31): Show c.656-2496_656-2483delCTTTCTTTCTTTCT	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	6/14			chr13	TogoVar
CARS2_chr13_110636417_110711116	110679597	AAGAGAGA others(7): Show AAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0300 a0001c0003t0001g0300	1	372	0.0027	-14	c.656 others(31): Show c.656-2508_656-2495delCTCTCTCTCTCTCT	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	6/14			chr13	TogoVar
CASC3_chr17_40135537_40177171	40140370	CCCAACAC others(7): Show CCCAACACACACACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG03942.hp2 HG02004.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0195 a0001c0001t0001g0008 a0001c0001t0001g0195	2	266	0.0075	-14	c.-17 others(23): Show c.-178_-165delCCAACACACACACA	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		166		chr17	TogoVar
CASC3_chr17_40135537_40177171	40140373	AACACACA others(7): Show AACACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01081.hp2 HG02647.hp2 others(4): Show HG01074.hp2 HG01081.hp2 HG02647.hp2 HG02723.hp2 HG02976.hp1 HG03831.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0057 a0001c0001t0001g0088 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0057 a0001c0001t0001g0088 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0140 a0001c0001t0001g0148	7	266	0.0263	-14	c.-17 others(23): Show c.-175_-162delACACACACACACAC	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		163		chr17	TogoVar
CASK_chrX_41509934_41928554	41585139	AAGAGAAG others(7): Show AAGAGAAGGGTAGAG	A A	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 HG03239.hp2 HG03490.hp1 HG04228.hp1 HG06807.hp2 NA18957.hp2 NA18973.hp2 NA18990.hp1 NA19074.hp1 NA19077.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0024 a0001c0001t0001 a0001c0001t0002 a0001c0001t0024	a0001c0001t0001g0032 a0001c0001t0002g0009 a0001c0001t0002g0010 others(15): Show a0001c0001t0001g0032 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0024g0003	18	164	0.1098	-14	c.131 others(33): Show c.1314+1754_1314+1767delCTCTACCCTTCTCT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	14/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41611848	GCCGCCAC others(7): Show GCCGCCACGCCTGAC	G G	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0027 a0003c0004t0001g0027	1	164	0.0061	-14	c.103 others(33): Show c.1034-1837_1034-1824delGTCAGGCGTGGCGG	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	11/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41637378	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00735.hp2 others(14): Show HG00099.hp2 HG00280.hp1 HG00735.hp2 HG01071.hp2 HG01099.hp1 HG01123.hp2 HG02683.hp1 HG03239.hp2 HG03471.hp1 HG04228.hp1 HG06807.hp2 NA18957.hp2 NA18973.hp2 NA18990.hp1 NA19074.hp1 NA19077.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0024 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0024 a0001c0006t0028	a0001c0001t0001g0032 a0001c0001t0002g0009 a0001c0001t0002g0012 others(14): Show a0001c0001t0001g0032 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0024g0003 a0001c0006t0028g0018	17	164	0.1037	-14	c.832 others(29): Show c.832-731_832-718delAAAAAAAAAAAAAA	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	8/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41729771	AAAAAAAA others(7): Show AAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0006 a0001c0001t0007g0006	1	164	0.0061	-14	c.429 others(31): Show c.429+9599_429+9612delATATTTTTTTTTTT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	5/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41818145	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	164	0.0061	-14	c.173 others(33): Show c.173-30876_173-30863delCACACACACACACA	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41829696	GATATATA others(7): Show GATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA19082.hp1 HG03579.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0106 a0001c0001t0025g0019 a0001c0001t0001g0106 a0001c0001t0025g0019	2	164	0.0122	-14	c.172 others(33): Show c.172+23405_172+23418delATATATATATATAT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41854222	GCGCACAC others(7): Show GCGCACACACACACA	G G	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18966.hp1 NA18944.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0077 a0001c0001t0001g0078	2	164	0.0122	-14	c.60- others(28): Show c.60-1009_60-996delTGTGTGTGTGTGCG	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	1/26			chrX	TogoVar
CASP4_chr11_104937866_104973574	104944358	CTCTCTCT others(7): Show CTCTCTCTCTCTGTG	C C	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	358	0.0028	-14	c.5+ others(27): Show c.5+376_*5+389delCACAGAGAGAGAGA	CASP4	ENSG00000196954.14	transcript	ENST00000444739.7	protein_coding	8/8			chr11	TogoVar
CASP4_chr11_104937866_104973574	104957518	GCTATAAT others(7): Show GCTATAATTGTGACA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03130.hp1 HG03195.hp1 others(4): Show HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03225.hp1 HG03239.hp1 NA18906.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0031 a0001c0001t0001g0046 a0001c0001t0001g0061 others(1): Show a0001c0001t0001g0031 a0001c0001t0001g0046 a0001c0001t0001g0061 a0001c0002t0001g0017	7	358	0.0196	-14	c.8-2 others(27): Show c.8-2531_8-2518delTGTCACAATTATAG	CASP4	ENSG00000196954.14	transcript	ENST00000444739.7	protein_coding	1/8			chr11	TogoVar
CASP5_chr11_104989243_105028168	105005352	ATATATGT others(7): Show ATATATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp1 HG02451.hp1 others(4): Show HG01243.hp2 HG02055.hp1 HG02451.hp1 HG02818.hp1 HG03139.hp2 HG03453.hp1 NA18522.hp1	a0006 a0008 a0022 others(1): Show a0006 a0008 a0022 a0023	a0006c0018 a0008c0007 a0022c0019 others(1): Show a0006c0018 a0008c0007 a0022c0019 a0023c0020	a0006c0018t0001 a0008c0007t0001 a0022c0019t0001 others(1): Show a0006c0018t0001 a0008c0007t0001 a0022c0019t0001 a0023c0020t0001	a0006c0018t0001g0319 a0008c0007t0001g0043 a0008c0007t0001g0321 others(3): Show a0006c0018t0001g0319 a0008c0007t0001g0043 a0008c0007t0001g0321 a0008c0007t0001g0325 a0022c0019t0001g0326 a0023c0020t0001g0318	7	396	0.0177	-14	c.433 others(31): Show c.433+1717_433+1730delCACACACACATATA	CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding	3/9			chr11	TogoVar
CASP5_chr11_104989243_105028168	105009757	ATACACAC others(7): Show ATACACACACACACG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19043.hp1 NA19030.hp1 NA19043.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0013 a0003c0005t0001g0013	2	396	0.0051	-14	c.8-7 others(25): Show c.8-791_8-778delCGTGTGTGTGTGTA	CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding	1/9			chr11	TogoVar
CASP5_chr11_104989243_105028168	105009810	CACACATA others(7): Show CACACATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01975.hp2 HG02004.hp1 others(19): Show HG00597.hp2 HG01975.hp2 HG02004.hp1 HG02056.hp2 HG02129.hp2 HG02523.hp2 NA18612.hp1 NA18950.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18964.hp2 NA18971.hp2 NA18977.hp2 NA18982.hp1 NA18983.hp2 NA18987.hp2 NA19000.hp2 NA19006.hp2 NA19063.hp1 NA19080.hp1 NA19083.hp2	a0001 a0002 a0020 a0001 a0002 a0020	a0001c0001 a0002c0002 a0020c0024 a0001c0001 a0002c0002 a0020c0024	a0001c0001t0001 a0002c0002t0001 a0020c0024t0001 a0001c0001t0001 a0002c0002t0001 a0020c0024t0001	a0001c0001t0001g0010 a0001c0001t0001g0232 a0001c0001t0001g0267 others(17): Show a0001c0001t0001g0010 a0001c0001t0001g0232 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0002c0002t0001g0189 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0266 a0002c0002t0001g0268 a0002c0002t0001g0272 a0002c0002t0001g0274 a0002c0002t0001g0275 a0020c0024t0001g0273	22	396	0.0556	-14	c.8-8 others(25): Show c.8-844_8-831delATATATATATGTGT	CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding	1/9			chr11	TogoVar
CASP6_chr4_109683628_109708445	109705993	AAAAAAAA others(7): Show AAAAAAAAAATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01255.hp2 HG00642.hp1 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0099 a0001c0001t0009g0020 a0001c0001t0003g0099 a0001c0001t0009g0020	2	416	0.0048	-14	c.-26 others(25): Show c.-2612_-2599delATATATTTTTTTTT	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2549		chr4	TogoVar
CASP7_chr10_113674912_113735905	113679022	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0325 a0002c0002t0001g0325	1	406	0.0025	-14	c.-95 others(23): Show c.-956_-943delGTGTGTGTGTGTGT	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding		889		chr10	TogoVar
CASP8_chr2_201255536_201292709	201268909	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02486.hp2 others(20): Show HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp2 HG02970.hp1 HG03041.hp1 HG03139.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp2 HG03927.hp1 HG03942.hp2 HG04204.hp2 HG04228.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010	a0001c0001t0001g0062 a0001c0001t0004g0022 a0001c0001t0004g0059 others(19): Show a0001c0001t0001g0062 a0001c0001t0004g0022 a0001c0001t0004g0059 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0005g0063 a0001c0001t0010g0053	23	386	0.0596	-14	c.305 others(31): Show c.305+2153_305+2166delTGTGTGTGTGTGTG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CASQ2_chr1_115695021_115773714	115773214	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02258.hp2 HG02572.hp1 others(11): Show HG02109.hp1 HG02258.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02886.hp1 HG02976.hp1 HG03195.hp2 HG03471.hp1 NA18522.hp1 NA19030.hp1 NA19240.hp1 NA20300.hp1 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0005c0009	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0015 a0001c0002t0001 a0001c0002t0003 a0001c0007t0009 a0005c0009t0001	a0001c0001t0002g0053 a0001c0001t0002g0060 a0001c0001t0002g0063 others(11): Show a0001c0001t0002g0053 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0004g0058 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0008g0034 a0001c0001t0015g0054 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0003g0056 a0001c0007t0009g0052 a0005c0009t0001g0059	14	364	0.0385	-14	c.-46 others(25): Show c.-4687_-4674delCACACACACACACA	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding		4501		chr1	TogoVar
CASTOR2_chr7_74959705_75036528	74965876	ACACACAC others(7): Show ACACACACTCTCTCT	A A	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0038 a0001c0001t0005g0038	1	228	0.0044	-14	c.113 others(29): Show c.113+780_113+793delACACACTCTCTCTC	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74996732	TTTTTTTT others(7): Show TTTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0138 a0001c0001t0027g0138	1	228	0.0044	-14	c.114 others(33): Show c.114-11261_114-11248delTTTTTTTTTTTTTG	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8			chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74999601	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02056.hp2 NA18960.hp1 others(6): Show HG02040.hp1 HG02056.hp2 NA18960.hp1 NA19002.hp2 NA19004.hp2 NA19012.hp1 NA19056.hp1 NA19066.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0052 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0052 a0001c0001t0053 a0001c0001t0074	a0001c0001t0001g0170 a0001c0001t0005g0028 a0001c0001t0005g0032 others(6): Show a0001c0001t0001g0170 a0001c0001t0005g0028 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0035 a0001c0001t0005g0038 a0001c0001t0052g0037 a0001c0001t0053g0036 a0001c0001t0074g0030	9	228	0.0395	-14	c.114 others(31): Show c.114-8371_114-8358delTTTTTTTTTTTTTT	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAST_chr5_96657376_96779683	96703205	TGTGGCCC others(7): Show TGTGGCCCGGTACAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA21309.hp2 HG01109.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0017 a0004c0008 a0001c0017 a0004c0008	a0001c0017t0001 a0004c0008t0011 a0001c0017t0001 a0004c0008t0011	a0001c0017t0001g0025 a0004c0008t0011g0238 a0001c0017t0001g0025 a0004c0008t0011g0238	2	358	0.0056	-14	c.210 others(31): Show c.210+7307_210+7320delGTACAAGTGGCCCG	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAST_chr5_96657376_96779683	96703215	TACAAGTG others(7): Show TACAAGTGGCCCGAG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03579.hp2 HG03927.hp2 others(3): Show HG02451.hp1 HG03579.hp2 HG03927.hp2 NA18983.hp2 NA18998.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0005 a0001c0001t0001g0127 a0001c0001t0001g0129 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0171 a0001c0001t0004g0136	6	358	0.0168	-14	c.210 others(31): Show c.210+7334_210+7347delGAGACAAGTGGCCC	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAST_chr5_96657376_96779683	96752550	ATAACCTC others(7): Show ATAACCTCAGGGATT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00423.hp2 others(55): Show HG00099.hp2 HG00280.hp2 HG00423.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp2 HG00741.hp2 HG01074.hp2 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01516.hp2 HG01934.hp2 HG02004.hp1 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02293.hp2 HG02602.hp1 HG02698.hp1 HG02738.hp1 HG02886.hp2 HG02970.hp1 HG03453.hp1 HG03471.hp2 HG03579.hp1 HG03579.hp2 HG03942.hp1 HG06807.hp2 NA18906.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18956.hp1 NA18959.hp1 NA18967.hp1 NA18973.hp1 NA18973.hp2 NA18982.hp1 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19043.hp2 NA19065.hp2 NA19068.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0001c0012 a0002c0003 a0002c0004 a0002c0006 a0003c0007 a0007c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0002t0020 a0001c0005t0001 a0001c0005t0007 a0001c0012t0001 a0001c0012t0012 a0002c0003t0002 a0002c0003t0003 a0002c0004t0003 a0002c0006t0003 a0003c0007t0002 a0007c0015t0012	a0001c0001t0001g0005 a0001c0001t0001g0063 a0001c0001t0001g0068 others(52): Show a0001c0001t0001g0005 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0097 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0185 a0001c0001t0001g0253 a0001c0001t0001g0261 a0001c0001t0002g0280 a0001c0001t0002g0337 a0001c0001t0006g0010 a0001c0001t0006g0273 a0001c0002t0001g0009 a0001c0002t0001g0183 a0001c0002t0001g0216 a0001c0002t0001g0220 a0001c0002t0001g0227 a0001c0002t0001g0231 a0001c0002t0001g0303 a0001c0002t0020g0161 a0001c0005t0001g0244 a0001c0005t0007g0251 a0001c0012t0001g0328 a0001c0012t0001g0329 a0001c0012t0012g0270 a0002c0003t0002g0294 a0002c0003t0003g0021 a0002c0003t0003g0268 a0002c0003t0003g0271 a0002c0003t0003g0305 a0002c0003t0003g0314 a0002c0003t0003g0316 a0002c0003t0003g0317 a0002c0003t0003g0319 a0002c0003t0003g0326 a0002c0003t0003g0327 a0002c0003t0003g0331 a0002c0003t0003g0333 a0002c0004t0003g0299 a0002c0004t0003g0300 a0002c0006t0003g0201 a0002c0006t0003g0213 a0003c0007t0002g0050 a0003c0007t0002g0313 a0007c0015t0012g0137	58	358	0.1620	-14	c.152 others(33): Show c.1525-1508_1525-1495delAACCTCAGGGATTT	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	20/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CASZ1_chr1_10631604_10801646	10634472	CTGGCCTT others(7): Show CTGGCCTTTGCCCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0027	1	236	0.0042	-14	c.44 others(25): Show c.4456_*4469delCTGGGCAAAGGCCA	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding		2131		chr1	TogoVar
CASZ1_chr1_10631604_10801646	10783246	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02083.hp1 NA18950.hp1 HG00423.hp1 HG02083.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0057 a0001c0003t0002 a0001c0001t0001 a0001c0001t0057 a0001c0003t0002	a0001c0001t0001g0106 a0001c0001t0057g0073 a0001c0003t0002g0105 a0001c0001t0001g0106 a0001c0001t0057g0073 a0001c0003t0002g0105	3	236	0.0127	-14	c.-23 others(35): Show c.-234+13304_-234+13317delACACACACACACAC	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	1/20			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10788538	GGGGCACA others(7): Show GGGGCACATGGATTC	G G	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0046 a0001c0003t0002g0046	1	236	0.0042	-14	c.-23 others(33): Show c.-234+8012_-234+8025delGAATCCATGTGCCC	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	1/20			chr1	TogoVar
CATSPERB_chr14_91575698_91737086	91586557	GAGAGAGA others(7): Show GAGAGAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03688.hp1 HG03017.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0027 a0001c0001t0001g0032	2	271	0.0074	-14	c.313 others(31): Show c.3132+631_3132+644delTTCTCTCTCTCTCT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	26/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91619861	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02647.hp2 HG02922.hp2 others(8): Show HG01192.hp1 HG02647.hp2 HG02922.hp2 HG02970.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03540.hp2 NA18522.hp1 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0006 a0001c0002 a0003c0006	a0001c0002t0002 a0003c0006t0002 a0001c0002t0002 a0003c0006t0002	a0001c0002t0002g0017 a0001c0002t0002g0115 a0001c0002t0002g0122 others(8): Show a0001c0002t0002g0017 a0001c0002t0002g0115 a0001c0002t0002g0122 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0132 a0001c0002t0002g0162 a0001c0002t0002g0195 a0001c0002t0002g0252 a0003c0006t0002g0131	11	271	0.0406	-14	c.226 others(33): Show c.2260+1733_2260+1746delCACACACACACACA	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	19/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91652670	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG04199.hp2 HG03239.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0028 a0001c0002t0002g0240 a0001c0001t0001g0028 a0001c0002t0002g0240	2	271	0.0074	-14	c.143 others(33): Show c.1432+7153_1432+7166delTTTTTTTTTTTTTT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	15/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91707575	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01243.hp2 HG00642.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0157 a0001c0001t0001g0158	2	271	0.0074	-14	c.466 others(29): Show c.466+552_466+565delAAAAAAAAAAAAAA	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	6/26			chr14	TogoVar
CATSPERD_chr19_5715637_5783734	5715643	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG03540.hp2 HG01243.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0045 a0001c0001 a0001c0045	a0001c0001t0001 a0001c0045t0001 a0001c0001t0001 a0001c0045t0001	a0001c0001t0001g0225 a0001c0045t0001g0151 a0001c0001t0001g0225 a0001c0045t0001g0151	2	336	0.0060	-14	c.-50 others(25): Show c.-5094_-5081delAAAAAAAAAAAAAA	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding		4993		chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5716253	AATATACA others(7): Show AATATACATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	336	0.0030	-14	c.-44 others(25): Show c.-4484_-4471delATATACATATATAT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding		4383		chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5716259	CATATATA others(7): Show CATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01891.hp1 HG01952.hp2 others(7): Show HG01346.hp1 HG01891.hp1 HG01952.hp2 HG01993.hp2 HG02027.hp1 HG02647.hp2 NA18943.hp2 NA18946.hp1 NA18967.hp2 NA18999.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0001c0040 a0002c0019 others(3): Show a0001c0001 a0001c0040 a0002c0019 a0003c0041 a0004c0042 a0007c0010	a0001c0001t0001 a0001c0040t0001 a0002c0019t0001 others(3): Show a0001c0001t0001 a0001c0040t0001 a0002c0019t0001 a0003c0041t0001 a0004c0042t0001 a0007c0010t0001	a0001c0001t0001g0060 a0001c0001t0001g0128 a0001c0040t0001g0331 others(7): Show a0001c0001t0001g0060 a0001c0001t0001g0128 a0001c0040t0001g0331 a0002c0019t0001g0330 a0002c0019t0001g0332 a0003c0041t0001g0329 a0004c0042t0001g0316 a0007c0010t0001g0026 a0007c0010t0001g0027 a0007c0010t0001g0029	10	336	0.0298	-14	c.-44 others(25): Show c.-4478_-4465delATATATATATATAT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding		4377		chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5743694	CTCTCTCT others(7): Show CTCTCTCTCTCTCTG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01433.hp1 HG01891.hp1 HG00280.hp1 HG01433.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0045 a0001c0001t0001g0128 a0001c0001t0005g0142 a0001c0001t0001g0045 a0001c0001t0001g0128 a0001c0001t0005g0142	3	336	0.0089	-14	c.574 others(29): Show c.574-727_574-714delCTCTCTCTGTCTCT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5751531	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00741.hp1 others(44): Show HG00280.hp1 HG00280.hp2 HG00741.hp1 HG00741.hp2 HG01175.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01884.hp2 HG01891.hp1 HG02083.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02698.hp2 HG02717.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02970.hp1 HG03130.hp2 HG03239.hp1 HG03453.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18944.hp2 NA18954.hp1 NA18963.hp1 NA18964.hp1 NA19043.hp1 NA19043.hp2 NA20752.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0010 a0011 a0012 a0020 a0029 a0033 a0034	a0001c0001 a0002c0002 a0002c0019 others(12): Show a0001c0001 a0002c0002 a0002c0019 a0003c0004 a0003c0037 a0004c0003 a0005c0006 a0006c0007 a0010c0011 a0011c0008 a0012c0015 a0020c0021 a0029c0039 a0033c0047 a0034c0046	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0002t0001 a0002c0019t0001 a0003c0004t0001 a0003c0037t0001 a0004c0003t0001 a0005c0006t0001 a0006c0007t0001 a0010c0011t0001 a0011c0008t0001 a0012c0015t0001 a0020c0021t0001 a0029c0039t0001 a0033c0047t0001 a0034c0046t0001	a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0033 others(44): Show a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0033 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0128 a0001c0001t0001g0164 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0221 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0285 a0001c0001t0001g0310 a0001c0001t0002g0311 a0001c0001t0005g0142 a0002c0002t0001g0201 a0002c0002t0001g0205 a0002c0002t0001g0209 a0002c0019t0001g0332 a0003c0004t0001g0123 a0003c0004t0001g0188 a0003c0004t0001g0196 a0003c0004t0001g0199 a0003c0004t0001g0323 a0003c0004t0001g0333 a0003c0004t0001g0336 a0003c0037t0001g0203 a0004c0003t0001g0202 a0004c0003t0001g0282 a0005c0006t0001g0198 a0005c0006t0001g0206 a0005c0006t0001g0213 a0005c0006t0001g0217 a0005c0006t0001g0219 a0006c0007t0001g0034 a0010c0011t0001g0002 a0010c0011t0001g0003 a0010c0011t0001g0315 a0011c0008t0001g0012 a0012c0015t0001g0122 a0012c0015t0001g0125 a0020c0021t0001g0019 a0029c0039t0001g0140 a0033c0047t0001g0004 a0034c0046t0001g0005	47	336	0.1399	-14	c.988 others(27): Show c.988-92_988-79delAAAAAAAAAAAAAA	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	11/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERE_chr1_244456273_244645504	244528785	CCACACAC others(7): Show CCACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03834.hp2 HG03831.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0094 a0001c0001t0001g0095	2	206	0.0097	-14	c.536 others(33): Show c.536+10115_536+10128delACACACACACACAC	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244557532	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19240.hp2 NA19030.hp1 NA19240.hp2	a0002 a0009 a0002 a0009	a0002c0004 a0009c0022 a0002c0004 a0009c0022	a0002c0004t0002 a0009c0022t0001 a0002c0004t0002 a0009c0022t0001	a0002c0004t0002g0008 a0009c0022t0001g0080 a0002c0004t0002g0008 a0009c0022t0001g0080	2	206	0.0097	-14	c.103 others(33): Show c.1030-3098_1030-3085delTATATATATATATA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244582910	GATATATA others(7): Show GATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA18522.hp2 NA18953.hp1 others(2): Show HG00741.hp1 NA18522.hp2 NA18953.hp1 NA18957.hp2 NA19065.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0019 a0008c0024 a0001c0001 a0001c0019 a0008c0024	a0001c0001t0001 a0001c0001t0004 a0001c0019t0004 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0019t0004 a0008c0024t0001	a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0004g0151 others(2): Show a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0004g0151 a0001c0019t0004g0175 a0008c0024t0001g0081	5	206	0.0243	-14	c.201 others(31): Show c.2010-900_2010-887delTATATATATATATA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244621062	ATATATAT others(7): Show ATATATATAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0004 a0004	a0004c0023 a0004c0023	a0004c0023t0001 a0004c0023t0001	a0004c0023t0001g0077 a0004c0023t0001g0077	1	206	0.0049	-14	c.264 others(33): Show c.2648+3377_2648+3390delTATATATAAAATAT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21			chr1	TogoVar

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