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
CARD14_chr17_80165030_80214331	80172872	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00609.hp1 HG01069.hp2 HG01070.hp1 others(20): Show HG00609.hp1 HG01069.hp2 HG01070.hp1 HG01168.hp2 HG01358.hp2 HG01361.hp1 HG01517.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG02040.hp1 HG02074.hp1 HG02572.hp1 HG02698.hp2 HG02735.hp1 HG03491.hp2 HG03710.hp2 HG04199.hp1 HG04199.hp2 NA18957.hp2 NA18968.hp1 NA18984.hp1 NA20805.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0019 a0026	a0001c0001 a0001c0007 a0002c0002 others(8): Show a0001c0001 a0001c0007 a0002c0002 a0002c0005 a0003c0013 a0004c0008 a0005c0004 a0006c0015 a0008c0018 a0019c0043 a0026c0047	a0001c0001t0002 a0001c0007t0002 a0001c0007t0004 others(9): Show a0001c0001t0002 a0001c0007t0002 a0001c0007t0004 a0002c0002t0001 a0002c0005t0001 a0003c0013t0002 a0004c0008t0001 a0005c0004t0001 a0006c0015t0001 a0008c0018t0001 a0019c0043t0001 a0026c0047t0001	a0001c0001t0002g0292 a0001c0007t0002g0293 a0001c0007t0002g0316 others(20): Show a0001c0001t0002g0292 a0001c0007t0002g0293 a0001c0007t0002g0316 a0001c0007t0002g0330 a0001c0007t0002g0331 a0001c0007t0002g0337 a0001c0007t0004g0338 a0002c0002t0001g0317 a0002c0005t0001g0318 a0002c0005t0001g0334 a0003c0013t0002g0319 a0004c0008t0001g0306 a0004c0008t0001g0307 a0004c0008t0001g0315 a0004c0008t0001g0333 a0004c0008t0001g0349 a0004c0008t0001g0353 a0005c0004t0001g0335 a0005c0004t0001g0348 a0006c0015t0001g0336 a0008c0018t0001g0291 a0019c0043t0001g0305 a0026c0047t0001g0332	23	376	0.0612	13	c.-68 others(27): Show c.-689-20_-689-8dupTTTTTTTTTTTTT	CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
CARD19_chr9_93091217_93118283	93115479	G G	GGGAGGGG others(6): Show GGGAGGGGGGTGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 NA19012.hp1 HG01978.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	358	0.0056	13	c.23 others(24): Show c.2372_*2373insGGAGGGGGGTGAA	CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding		2197		chr9	TogoVar
CARD19_chr9_93091217_93118283	93115479	G G	GGGGAGGG others(6): Show GGGGAGGGGGTGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0011 a0002c0003t0001g0011	1	358	0.0028	13	c.23 others(24): Show c.2372_*2373insGGGAGGGGGTGAA	CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding		2197		chr9	TogoVar
CARD19_chr9_93091217_93118283	93115482	A A	AGGGGGTG others(6): Show AGGGGGTGAAGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	358	0.0028	13	c.23 others(24): Show c.2375_*2376insGGGGGTGAAGGAG	CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding		2200		chr9	TogoVar
CARD8_chr19_48203086_48260912	48207734	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02622.hp1 HG02486.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0043 a0001c0002t0049 a0001c0002t0043 a0001c0002t0049	a0001c0002t0043g0222 a0001c0002t0049g0255 a0001c0002t0043g0222 a0001c0002t0049g0255	2	362	0.0055	13	c.39 others(24): Show c.3963_*3975dupAAAAAAAAAAAAA	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding		351		chr19	TogoVar
CARD8_chr19_48203086_48260912	48207744	T T	TTTTGTTT others(6): Show TTTTGTTTTTTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0003 a0001c0013t0003	a0001c0013t0003g0156 a0001c0013t0003g0157 a0001c0013t0003g0156 a0001c0013t0003g0157	2	362	0.0055	13	c.39 others(24): Show c.3965_*3966insCAAAAAAAACAAA	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding		341		chr19	TogoVar
CARD8_chr19_48203086_48260912	48208015	C C	CAGTTGGG others(6): Show CAGTTGGGATTGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(122): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00639.hp1 HG00673.hp1 HG01070.hp2 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01255.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp2 HG02015.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp2 HG03669.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18954.hp1 NA18956.hp2 NA18960.hp1 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18979.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18986.hp2 NA18990.hp2 NA18991.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA19002.hp1 NA19003.hp2 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19056.hp2 NA19062.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19086.hp1 NA19088.hp1 NA19091.hp1 NA20129.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0008 a0010 a0012 a0014	a0001c0002 a0001c0008 a0001c0010 others(6): Show a0001c0002 a0001c0008 a0001c0010 a0002c0001 a0005c0016 a0008c0017 a0010c0024 a0012c0022 a0014c0021	a0001c0002t0001 a0001c0002t0013 a0001c0008t0004 others(20): Show a0001c0002t0001 a0001c0002t0013 a0001c0008t0004 a0001c0008t0010 a0001c0008t0050 a0001c0010t0001 a0002c0001t0001 a0002c0001t0004 a0002c0001t0010 a0002c0001t0013 a0002c0001t0018 a0002c0001t0020 a0002c0001t0021 a0002c0001t0035 a0002c0001t0057 a0002c0001t0058 a0005c0016t0001 a0005c0016t0013 a0008c0017t0001 a0008c0017t0021 a0010c0024t0004 a0012c0022t0001 a0014c0021t0001	a0001c0002t0001g0207 a0001c0002t0001g0237 a0001c0002t0001g0239 others(107): Show a0001c0002t0001g0207 a0001c0002t0001g0237 a0001c0002t0001g0239 a0001c0002t0013g0220 a0001c0002t0013g0221 a0001c0008t0004g0019 a0001c0008t0004g0311 a0001c0008t0010g0018 a0001c0008t0050g0315 a0001c0010t0001g0057 a0001c0010t0001g0084 a0001c0010t0001g0085 a0001c0010t0001g0144 a0002c0001t0001g0001 a0002c0001t0001g0002 a0002c0001t0001g0003 a0002c0001t0001g0005 a0002c0001t0001g0006 a0002c0001t0001g0024 a0002c0001t0001g0031 a0002c0001t0001g0032 a0002c0001t0001g0033 a0002c0001t0001g0034 a0002c0001t0001g0038 a0002c0001t0001g0040 a0002c0001t0001g0044 a0002c0001t0001g0049 a0002c0001t0001g0055 a0002c0001t0001g0058 a0002c0001t0001g0059 a0002c0001t0001g0060 a0002c0001t0001g0065 a0002c0001t0001g0068 a0002c0001t0001g0069 a0002c0001t0001g0073 a0002c0001t0001g0074 a0002c0001t0001g0076 a0002c0001t0001g0077 a0002c0001t0001g0078 a0002c0001t0001g0080 a0002c0001t0001g0082 a0002c0001t0001g0100 a0002c0001t0001g0103 a0002c0001t0001g0105 a0002c0001t0001g0106 a0002c0001t0001g0111 a0002c0001t0001g0112 a0002c0001t0001g0114 a0002c0001t0001g0123 a0002c0001t0001g0125 a0002c0001t0001g0127 a0002c0001t0001g0133 a0002c0001t0001g0142 a0002c0001t0001g0143 a0002c0001t0001g0146 a0002c0001t0001g0168 a0002c0001t0001g0177 a0002c0001t0001g0224 a0002c0001t0001g0225 a0002c0001t0001g0226 a0002c0001t0001g0242 a0002c0001t0004g0004 a0002c0001t0004g0015 a0002c0001t0004g0017 a0002c0001t0004g0267 a0002c0001t0004g0269 a0002c0001t0004g0270 a0002c0001t0004g0271 a0002c0001t0004g0277 a0002c0001t0004g0286 a0002c0001t0004g0288 a0002c0001t0004g0292 a0002c0001t0004g0293 a0002c0001t0004g0294 a0002c0001t0004g0295 a0002c0001t0004g0297 a0002c0001t0004g0298 a0002c0001t0004g0299 a0002c0001t0004g0300 a0002c0001t0004g0303 a0002c0001t0004g0304 a0002c0001t0004g0306 a0002c0001t0004g0307 a0002c0001t0010g0266 a0002c0001t0010g0278 a0002c0001t0010g0290 a0002c0001t0010g0296 a0002c0001t0010g0301 a0002c0001t0010g0310 a0002c0001t0013g0075 a0002c0001t0013g0121 a0002c0001t0018g0274 a0002c0001t0018g0282 a0002c0001t0018g0289 a0002c0001t0018g0309 a0002c0001t0020g0021 a0002c0001t0020g0329 a0002c0001t0020g0330 a0002c0001t0021g0083 a0002c0001t0021g0102 a0002c0001t0035g0070 a0002c0001t0057g0287 a0002c0001t0058g0291 a0005c0016t0001g0227 a0005c0016t0013g0228 a0008c0017t0001g0079 a0008c0017t0021g0081 a0010c0024t0004g0312 a0012c0022t0001g0215 a0014c0021t0001g0101	125	362	0.3453	13	c.36 others(24): Show c.3694_*3695insTGCAATCCCAACT	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding		70		chr19	TogoVar
CARHSP1_chr16_8847947_8874006	8851977	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0002 a0006c0009t0002	a0006c0009t0002g0310 a0006c0009t0002g0310	1	470	0.0021	13	c.31 others(24): Show c.3174_*3186dupAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding		969		chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8857261	C C	CTGTTTTT others(6): Show CTGTTTTTGTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18747.hp2 NA19054.hp1 others(1): Show HG00609.hp2 NA18747.hp2 NA19054.hp1 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005	a0001c0002t0001g0203 a0001c0002t0002g0117 a0001c0002t0002g0163 others(1): Show a0001c0002t0001g0203 a0001c0002t0002g0117 a0001c0002t0002g0163 a0001c0002t0005g0067	4	470	0.0085	13	c.281 others(30): Show c.281+1088_281+1089insAAAAACAAAAACA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/3			chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8857263	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18983.hp1 HG02523.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0216 a0001c0001t0003g0227 a0001c0001t0003g0216 a0001c0001t0003g0227	2	470	0.0043	13	c.281 others(30): Show c.281+1074_281+1086dupAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/3			chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8857264	T T	TTTTTTGT others(6): Show TTTTTTGTTTTTTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG01099.hp1 others(28): Show HG00099.hp2 HG00140.hp1 HG01099.hp1 HG01168.hp1 HG01978.hp1 HG02027.hp1 HG02055.hp2 HG02074.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp2 HG03704.hp2 NA18939.hp1 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18953.hp1 NA18954.hp1 NA18964.hp1 NA18966.hp2 NA18975.hp1 NA18987.hp1 NA18989.hp2 NA18997.hp1 NA19002.hp1 NA19004.hp1 NA19012.hp2 NA19065.hp2 NA19081.hp2 NA19090.hp2 NA19091.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0004c0008	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0005t0018 a0004c0008t0002	a0001c0001t0002g0135 a0001c0002t0001g0041 a0001c0002t0002g0001 others(25): Show a0001c0001t0002g0135 a0001c0002t0001g0041 a0001c0002t0002g0001 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0042 a0001c0002t0002g0053 a0001c0002t0002g0107 a0001c0002t0002g0141 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0149 a0001c0002t0002g0156 a0001c0002t0002g0158 a0001c0002t0002g0165 a0001c0002t0002g0177 a0001c0002t0002g0199 a0001c0002t0002g0238 a0001c0002t0002g0303 a0001c0002t0002g0317 a0001c0002t0002g0331 a0001c0002t0002g0332 a0001c0002t0002g0333 a0001c0002t0002g0421 a0001c0002t0002g0437 a0001c0005t0018g0170 a0001c0005t0018g0173 a0004c0008t0002g0161	31	470	0.0660	13	c.281 others(30): Show c.281+1085_281+1086insCAAAAAACAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/3			chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8861545	C C	CCGGAGAA others(6): Show CCGGAGAAGGGATG	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0151 a0001c0002t0002g0151	1	470	0.0021	13	c.-7- others(28): Show c.-7-2211_-7-2210insCATCCCTTCTCCG	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	1/3			chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8861989	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02080.hp1 HG02615.hp1 others(3): Show HG01884.hp1 HG02080.hp1 HG02615.hp1 HG02738.hp2 HG02818.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0007 a0001c0001t0001g0066 a0001c0001t0001g0423 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0066 a0001c0001t0001g0423 a0001c0001t0003g0350	6	470	0.0128	13	c.-7- others(28): Show c.-7-2667_-7-2655dupAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	1/3			chr16	TogoVar
CARM1_chr19_10866553_10928075	10905942	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0049 a0001c0006t0049	a0001c0006t0049g0345 a0001c0006t0049g0345	1	354	0.0028	13	c.346 others(28): Show c.346+878_346+890dupTTTTTTTTTTTTT	CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr19	TogoVar
CARM1_chr19_10866553_10928075	10919689	A A	ACCCACAC others(6): Show ACCCACACTCCATC	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0013 a0001c0001t0039g0013	1	354	0.0028	13	c.110 others(28): Show c.1106+11_1106+23dupCCACACTCCATCC	CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr19	TogoVar
CARMIL1_chr6_25274374_25625530	25293305	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA19002.hp2 HG00544.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0109 a0001c0001t0001g0081 a0001c0001t0001g0109	2	186	0.0108	13	c.138 others(30): Show c.138+8396_138+8397insGTGTGTGTGTGTG	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36			chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25340777	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0096 a0001c0004t0004g0096	1	186	0.0054	13	c.138 others(32): Show c.138+55883_138+55895dupTTTTTTTTTTTTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25387114	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02717.hp1 HG02486.hp2 HG02717.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0007 a0001c0002 a0002c0007	a0001c0002t0008 a0002c0007t0003 a0001c0002t0008 a0002c0007t0003	a0001c0002t0008g0026 a0002c0007t0003g0024 a0001c0002t0008g0026 a0002c0007t0003g0024	2	186	0.0108	13	c.139 others(32): Show c.139-32993_139-32981dupAAAAAAAAAAAAA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25459266	C C	CTTTCTTT others(6): Show CTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18956.hp1 NA18522.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0004t0006 a0001c0001t0005 a0001c0004t0006	a0001c0001t0005g0136 a0001c0004t0006g0027 a0001c0001t0005g0136 a0001c0004t0006g0027	2	186	0.0108	13	c.615 others(30): Show c.615-6604_615-6603insCTTTCTTTCTTTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25529755	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02145.hp2 HG01433.hp1 HG02145.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0096 a0001c0004t0004g0115 a0001c0004t0004g0096 a0001c0004t0004g0115	2	186	0.0108	13	c.206 others(30): Show c.2067+880_2067+892dupAAAAAAAAAAAAA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	24/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARS2_chr13_110636417_110711116	110648710	G G	GGTGCCTC others(6): Show GGTGCCTCCTGAAT	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0015 a0015	a0015c0022 a0015c0022	a0015c0022t0001 a0015c0022t0001	a0015c0022t0001g0112 a0015c0022t0001g0112	1	372	0.0027	13	c.105 others(32): Show c.1055-1484_1055-1472dupATTCAGGAGGCAC	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	10/14			chr13	TogoVar
CASC3_chr17_40135537_40177171	40140349	C C	CACACACA others(6): Show CACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	266	0.0038	13	c.-20 others(22): Show c.-200_-199insACACACACACACA	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		187		chr17	TogoVar
CASKIN1_chr16_2172180_2201605	2200993	T T	TGTGGCTG others(6): Show TGTGGCTGGAGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	350	0.0029	13	c.-45 others(24): Show c.-4562_-4561insCCCCTCCAGCCAC	CASKIN1	ENSG00000167971.16	transcript	ENST00000343516.8	protein_coding		4389		chr16	TogoVar
CASK_chrX_41509934_41928554	41710132	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0098 a0001c0001t0004g0098	1	164	0.0061	13	c.429 others(32): Show c.429+29251_429+29252insCACACACACACAC	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	5/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41741312	T T	TGCTACAA others(6): Show TGCTACAAACTTTG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	164	0.0061	13	c.357 others(30): Show c.357-1857_357-1856insCAAAGTTTGTAGC	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	4/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41825344	T T	TAAGAGGC others(6): Show TAAGAGGCCTTTGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(25): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00735.hp2 HG01071.hp2 HG01099.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG02109.hp2 HG02145.hp1 HG02622.hp1 HG02683.hp1 HG02735.hp1 HG02896.hp2 HG02897.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03579.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 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0006t0028	a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0002g0009 others(25): Show a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0006g0039 a0001c0001t0007g0004 a0001c0001t0007g0005 a0001c0001t0007g0006 a0001c0001t0024g0003 a0001c0001t0025g0019 a0001c0001t0026g0008 a0001c0006t0028g0018	28	164	0.1707	13	c.172 others(32): Show c.172+27770_172+27771insTCAAAGGCCTCTT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41869812	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02922.hp2 NA18943.hp1 HG01891.hp1 HG02922.hp2 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0007t0027 a0001c0001t0001 a0001c0001t0003 a0001c0007t0027	a0001c0001t0001g0112 a0001c0001t0003g0142 a0001c0007t0027g0160 a0001c0001t0001g0112 a0001c0001t0003g0142 a0001c0007t0027g0160	3	164	0.0183	13	c.60- others(30): Show c.60-16598_60-16586dupTTTTTTTTTTTTT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	1/26			chrX	TogoVar
CASP14_chr19_15044480_15063293	15044880	T T	TTTGAGGC others(6): Show TTTGAGGCAGAGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18976.hp2 NA18976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	428	0.0023	13	c.-48 others(24): Show c.-4812_-4811insTTGAGGCAGAGTG	CASP14	ENSG00000105141.6	transcript	ENST00000427043.4	protein_coding		4599		chr19	TogoVar
CASP1_chr11_105020508_105040144	105035618	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00733.hp2 HG01070.hp2 others(32): Show HG00423.hp1 HG00733.hp2 HG01070.hp2 HG01071.hp1 HG01175.hp1 HG01255.hp1 HG01515.hp1 HG01516.hp1 HG02135.hp1 HG02257.hp1 HG02615.hp1 HG02630.hp2 HG02698.hp2 HG02976.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03710.hp2 HG04204.hp2 NA18522.hp1 NA18949.hp1 NA18965.hp1 NA18978.hp1 NA18980.hp1 NA18995.hp1 NA19004.hp1 NA19011.hp2 NA19055.hp1 NA19060.hp2 NA19082.hp1 NA19082.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0009 others(3): Show a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0018 a0001c0001t0002g0021 a0001c0001t0002g0047	35	398	0.0879	13	c.-50 others(22): Show c.-506_-505insAAAAAAAAAAAAA	CASP1	ENSG00000137752.25	transcript	ENST00000533400.6	protein_coding		475		chr11	TogoVar
CASP2_chr7_143283351_143312696	143291780	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp1 HG01952.hp2 others(2): Show HG00735.hp1 HG01109.hp1 HG01952.hp2 HG02602.hp1 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0002c0002t0008 others(1): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0008 a0002c0002t0009	a0001c0001t0002g0042 a0002c0002t0001g0102 a0002c0002t0008g0103 others(1): Show a0001c0001t0002g0042 a0002c0002t0001g0102 a0002c0002t0008g0103 a0002c0002t0009g0033	5	246	0.0203	13	c.225 others(27): Show c.225+98_225+110dupTTTTTTTTTTTTT	CASP2	ENSG00000106144.20	transcript	ENST00000310447.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASP3_chr4_184622696_184654447	184631542	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG01123.hp2 others(34): Show HG00558.hp1 HG00558.hp2 HG01123.hp2 HG01255.hp1 HG01346.hp1 HG01346.hp2 HG01952.hp1 HG01975.hp2 HG02015.hp1 HG02040.hp2 HG02056.hp2 HG02083.hp2 HG02132.hp1 HG02165.hp1 HG02293.hp1 HG02602.hp1 HG02615.hp2 HG03927.hp2 HG04199.hp2 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18948.hp2 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18980.hp2 NA18983.hp1 NA18993.hp1 NA18995.hp2 NA18998.hp1 NA19005.hp1 NA19007.hp2 NA19064.hp1 NA19066.hp2 NA19077.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0022 a0001c0001t0002 a0001c0001t0003 a0001c0001t0022	a0001c0001t0002g0001 a0001c0001t0002g0028 a0001c0001t0002g0046 others(12): Show a0001c0001t0002g0001 a0001c0001t0002g0028 a0001c0001t0002g0046 a0001c0001t0002g0181 a0001c0001t0002g0185 a0001c0001t0002g0192 a0001c0001t0002g0203 a0001c0001t0002g0206 a0001c0001t0002g0210 a0001c0001t0002g0216 a0001c0001t0002g0224 a0001c0001t0003g0017 a0001c0001t0003g0057 a0001c0001t0003g0074 a0001c0001t0022g0174	37	366	0.1011	13	c.483 others(28): Show c.483+210_483+222dupTTTTTTTTTTTTT	CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding	6/7			chr4	TogoVar
CASP3_chr4_184622696_184654447	184631542	T T	TTAAAAAA others(6): Show TTAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0217 a0001c0001t0023g0217	1	366	0.0027	13	c.483 others(28): Show c.483+222_483+223insTTTTTTTTTTTTA	CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding	6/7			chr4	TogoVar
CASP4_chr11_104937866_104973574	104950823	C C	CACACACA others(6): Show CACACACACACACA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	358	0.0028	13	c.546 others(28): Show c.546+101_546+102insTGTGTGTGTGTGT	CASP4	ENSG00000196954.14	transcript	ENST00000444739.7	protein_coding	4/8			chr11	TogoVar
CASP6_chr4_109683628_109708445	109705993	A A	ATATATAT others(6): Show ATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 NA18946.hp2 HG00438.hp1 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0135 a0001c0001t0002g0134 a0001c0001t0001g0135 a0001c0001t0002g0134	2	416	0.0048	13	c.-25 others(24): Show c.-2599_-2598insATATATATATATA	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2549		chr4	TogoVar
CASP6_chr4_109683628_109708445	109705997	A A	ATATATAT others(6): Show ATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	416	0.0024	13	c.-26 others(24): Show c.-2603_-2602insATATATATATATA	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2553		chr4	TogoVar
CASP6_chr4_109683628_109708445	109706131	T T	TATATATA others(6): Show TATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 NA19011.hp1 HG00673.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0162 a0001c0001t0002g0004 a0001c0001t0002g0162	2	416	0.0048	13	c.-27 others(24): Show c.-2737_-2736insTATATATATATAT	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2687		chr4	TogoVar
CASP7_chr10_113674912_113735905	113707987	C C	CAGATTAC others(6): Show CAGATTACATCCTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp1 HG03516.hp1 HG01891.hp2 HG02451.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0304 a0002c0002t0001g0306 a0002c0002t0001g0353 a0002c0002t0001g0304 a0002c0002t0001g0306 a0002c0002t0001g0353	3	406	0.0074	13	c.110 others(32): Show c.110+10386_110+10387insATTACATCCTGAG	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
CASQ1_chr1_160185575_160206886	160186086	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(42): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00438.hp2 HG00544.hp1 HG00609.hp2 HG00642.hp1 HG01099.hp1 HG01099.hp2 HG01167.hp1 HG01168.hp1 HG01943.hp1 HG01952.hp2 HG02004.hp1 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG03491.hp2 HG03669.hp2 NA18747.hp2 NA18949.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18974.hp1 NA18986.hp1 NA18986.hp2 NA19002.hp1 NA19002.hp2 NA19009.hp2 NA19011.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19065.hp2 NA19070.hp2 NA19074.hp2 NA19076.hp2 NA19090.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0103 a0001c0001t0001g0128 a0001c0001t0001g0133	45	440	0.1023	13	c.-46 others(24): Show c.-4666_-4665insAAAAAAAAAAAAA	CASQ1	ENSG00000143318.13	transcript	ENST00000368078.8	protein_coding		4488		chr1	TogoVar
CASS4_chr20_56407260_56465382	56443090	T T	TCAAATAA others(6): Show TCAAATAAGTGAGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01081.hp2 HG01106.hp1 others(9): Show HG00735.hp1 HG01081.hp2 HG01106.hp1 HG01168.hp2 HG01261.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01928.hp2 HG03453.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0002t0002 a0002c0004t0001 a0001c0001t0001 a0001c0002t0002 a0002c0004t0001	a0001c0001t0001g0326 a0001c0002t0002g0003 a0001c0002t0002g0309 others(6): Show a0001c0001t0001g0326 a0001c0002t0002g0003 a0001c0002t0002g0309 a0001c0002t0002g0315 a0001c0002t0002g0322 a0001c0002t0002g0323 a0001c0002t0002g0327 a0001c0002t0002g0331 a0002c0004t0001g0140	12	376	0.0319	13	c.460 others(30): Show c.460-2810_460-2809insCAAATAAGTGAGA	CASS4	ENSG00000087589.17	transcript	ENST00000679887.1	protein_coding	2/5			chr20	TogoVar
CASS4_chr20_56407260_56465382	56443469	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	376	0.0027	13	c.460 others(30): Show c.460-2420_460-2419insAAAAAAAAAAAAA	CASS4	ENSG00000087589.17	transcript	ENST00000679887.1	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
CASTOR2_chr7_74959705_75036528	74960681	A A	AAATATAT others(6): Show AAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0028 a0001c0001t0005g0028	1	228	0.0044	13	c.-43 others(24): Show c.-4305_-4304insAATATATATATAT	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding		4023		chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74999601	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0023 a0001c0001t0013g0023	1	228	0.0044	13	c.114 others(30): Show c.114-8370_114-8358dupTTTTTTTTTTTTT	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASTOR2_chr7_74959705_75036528	75026188	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0198 a0001c0001t0038g0198	1	228	0.0044	13	c.14 others(24): Show c.1489_*1490insTTTTTTTTTTTTT	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	9/9	1490		chr7	TogoVar
CASTOR2_chr7_74959705_75036528	75026189	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01071.hp2 HG01346.hp1 HG02055.hp2 others(3): Show HG01071.hp2 HG01346.hp1 HG02055.hp2 HG02109.hp1 HG02818.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0088 a0001c0001t0003g0090 others(3): Show a0001c0001t0003g0057 a0001c0001t0003g0088 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0224 a0001c0001t0003g0225	6	228	0.0263	13	c.14 others(24): Show c.1495_*1507dupTTTTTTTTTTTTT	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	9/9	1508	INFO_REALIGN_3_PRIME	chr7	TogoVar
CAST_chr5_96657376_96779683	96680354	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp1 HG03654.hp1 others(7): Show HG00642.hp1 HG00741.hp1 HG03654.hp1 HG03942.hp2 NA18944.hp1 NA18945.hp1 NA19056.hp2 NA19082.hp2 NA19084.hp1 NA19090.hp2	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0001c0011 a0002c0004 others(1): Show a0001c0001 a0001c0011 a0002c0004 a0013c0019	a0001c0001t0002 a0001c0011t0002 a0002c0004t0001 others(1): Show a0001c0001t0002 a0001c0011t0002 a0002c0004t0001 a0013c0019t0001	a0001c0001t0002g0046 a0001c0001t0002g0052 a0001c0001t0002g0066 others(7): Show a0001c0001t0002g0046 a0001c0001t0002g0052 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0121 a0001c0011t0002g0102 a0002c0004t0001g0115 a0013c0019t0001g0114	10	358	0.0279	13	c.138 others(30): Show c.138+4766_138+4778dupAAAAAAAAAAAAA	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	2/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAST_chr5_96657376_96779683	96696686	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01167.hp1 HG02886.hp1 HG00558.hp1 HG01167.hp1 HG02886.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0013 a0001c0001 a0002c0013	a0001c0001t0001 a0002c0013t0001 a0001c0001t0001 a0002c0013t0001	a0001c0001t0001g0157 a0001c0001t0001g0181 a0002c0013t0001g0191 a0001c0001t0001g0157 a0001c0001t0001g0181 a0002c0013t0001g0191	3	358	0.0084	13	c.210 others(28): Show c.210+780_210+792dupAAAAAAAAAAAAA	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CASZ1_chr1_10631604_10801646	10694680	T T	TCGCGCCC others(6): Show TCGCGCCCCCGCCG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0035 a0002c0014t0035	a0002c0014t0035g0112 a0002c0014t0035g0112	1	236	0.0042	13	c.-23 others(28): Show c.-23-781_-23-769dupCGGCGGGGGCGCG	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	3/20			chr1	TogoVar
CATIP_chr2_218351857_218373094	218359341	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	366	0.0027	13	c.376 others(30): Show c.376-1221_376-1209dupAAAAAAAAAAAAA	CATIP	ENSG00000158428.4	transcript	ENST00000289388.4	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CATSPER1_chr11_66011752_66031479	66027488	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0091 a0002c0005t0003g0091	1	408	0.0025	13	c.-11 others(24): Show c.-1110_-1109insAAAAAAAAAAAAA	CATSPER1	ENSG00000175294.6	transcript	ENST00000312106.6	protein_coding		1010		chr11	TogoVar
CATSPER2_chr15_43623503_43653844	43627911	A A	ATGGCATG others(6): Show ATGGCATGCTGTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	392	0.0026	13	c.27 others(24): Show c.2789_*2790insCAACAGCATGCCA	CATSPER2	ENSG00000166762.19	transcript	ENST00000396879.8	protein_coding		591		chr15	TogoVar

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