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
CMIP_chr16_81439808_81716762	81569945	TTTCATTC others(5): Show TTTCATTCATTCA	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0127 a0001c0001t0006g0127	1	268	0.0037	-12	c.301 others(31): Show c.301-37601_301-37590delTTCATTCATTCA	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81590823	TCATCCAT others(5): Show TCATCCATCCATC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01168.hp1 HG01169.hp2 others(21): Show HG00738.hp1 HG01168.hp1 HG01169.hp2 HG02109.hp1 HG02109.hp2 HG02559.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02818.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03225.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 NA18522.hp1 NA19030.hp2 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0022 a0001c0001t0024 a0001c0001t0039 a0001c0001t0045 a0001c0006t0001	a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0048 others(21): Show a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0048 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0260 a0001c0001t0002g0212 a0001c0001t0003g0102 a0001c0001t0003g0268 a0001c0001t0006g0198 a0001c0001t0010g0195 a0001c0001t0022g0181 a0001c0001t0024g0047 a0001c0001t0039g0216 a0001c0001t0045g0206 a0001c0006t0001g0065	24	268	0.0896	-12	c.301 others(31): Show c.301-16707_301-16696delCATCCATCCATC	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81626786	AGAGTGTG others(5): Show AGAGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp2 HG02622.hp2 others(6): Show HG01884.hp2 HG02486.hp2 HG02622.hp2 HG02717.hp1 HG02723.hp2 HG02922.hp2 HG03139.hp1 HG03195.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0016	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0124 others(6): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0124 a0001c0001t0001g0166 a0001c0001t0001g0193 a0001c0001t0004g0159 a0001c0001t0006g0126 a0001c0001t0006g0194 a0001c0001t0016g0217	9	268	0.0336	-12	c.477 others(29): Show c.477+5862_477+5873delAGTGTGTGTGTG	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81667766	AAGAGAGA others(5): Show AAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG01106.hp1 others(4): Show HG00423.hp1 HG00544.hp2 HG01106.hp1 HG01255.hp2 HG03831.hp1 HG04115.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0012	a0001c0001t0001g0024 a0001c0001t0001g0046 a0001c0001t0001g0051 others(4): Show a0001c0001t0001g0024 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0002g0222 a0001c0001t0005g0045 a0001c0001t0010g0257 a0001c0001t0012g0055	7	268	0.0261	-12	c.826 others(29): Show c.826-2353_826-2342delAGAGAGAGAGAG	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81667789	AGAGAGAG others(5): Show AGAGAGAGAGAGT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0264 a0001c0001t0023g0264	1	268	0.0037	-12	c.826 others(29): Show c.826-2351_826-2340delAGAGAGAGAGTG	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81667791	AGAGAGAG others(5): Show AGAGAGAGAGTGT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	268	0.0037	-12	c.826 others(29): Show c.826-2349_826-2338delAGAGAGAGTGTG	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81667793	AGAGAGAG others(5): Show AGAGAGAGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0194 a0001c0001t0006g0194	1	268	0.0037	-12	c.826 others(29): Show c.826-2347_826-2336delAGAGAGTGTGTG	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81696800	AGGTGGTG others(5): Show AGGTGGTGGTGGT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00609.hp2 others(12): Show HG00438.hp1 HG00438.hp2 HG00609.hp2 HG02155.hp1 HG02155.hp2 NA18747.hp2 NA18943.hp2 NA18945.hp2 NA18947.hp1 NA18975.hp1 NA18984.hp1 NA18991.hp2 NA18995.hp1 NA19007.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 others(5): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0017 a0001c0001t0034 a0001c0001t0048	a0001c0001t0002g0223 a0001c0001t0002g0227 a0001c0001t0007g0234 others(12): Show a0001c0001t0002g0223 a0001c0001t0002g0227 a0001c0001t0007g0234 a0001c0001t0008g0078 a0001c0001t0009g0069 a0001c0001t0009g0073 a0001c0001t0009g0076 a0001c0001t0009g0117 a0001c0001t0009g0235 a0001c0001t0015g0218 a0001c0001t0015g0230 a0001c0001t0015g0244 a0001c0001t0017g0030 a0001c0001t0034g0116 a0001c0001t0048g0074	15	268	0.0560	-12	c.163 others(29): Show c.1638+144_1638+155delGTGGTGGTGGTG	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMKLR2_chr2_206170316_206218371	206172724	CGGGAGAG others(5): Show CGGGAGAGGGAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01515.hp2 HG01192.hp2 HG01515.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0028 a0002c0003t0003g0248 a0002c0003t0003g0028 a0002c0003t0003g0248	2	322	0.0062	-12	c.34 others(23): Show c.3444_*3455delTCTCCCTCTCCC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2591		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206172761	CGGGAGAG others(5): Show CGGGAGAGGGAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG04115.hp2 NA18960.hp1 HG03490.hp2 HG04115.hp2 NA18960.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0004t0001 a0002c0002t0001 a0002c0004t0001	a0002c0002t0001g0133 a0002c0002t0001g0167 a0002c0004t0001g0218 a0002c0002t0001g0133 a0002c0002t0001g0167 a0002c0004t0001g0218	3	322	0.0093	-12	c.34 others(23): Show c.3407_*3418delTCTCCCTCTCCC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2554		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206172798	CGGGAGAG others(5): Show CGGGAGAGGGAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG03490.hp2 HG04115.hp2 others(4): Show HG00597.hp2 HG03490.hp2 HG04115.hp2 NA18960.hp1 NA18979.hp2 NA18985.hp1 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0004t0001	a0001c0001t0001g0173 a0001c0001t0002g0255 a0001c0001t0002g0260 others(4): Show a0001c0001t0001g0173 a0001c0001t0002g0255 a0001c0001t0002g0260 a0001c0001t0002g0264 a0002c0002t0001g0133 a0002c0002t0001g0167 a0002c0004t0001g0218	7	322	0.0217	-12	c.33 others(23): Show c.3370_*3381delTCTCCCTCTCCC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2517		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206172835	AGGGAGAC others(5): Show AGGGAGACGGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp2 NA19003.hp2 NA18993.hp2 NA19003.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0292 a0002c0002t0001g0166 a0001c0001t0002g0292 a0002c0002t0001g0166	2	322	0.0062	-12	c.33 others(23): Show c.3333_*3344delCTCCCGTCTCCC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2480		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206172860	AGGGAGAC others(5): Show AGGGAGACGGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00438.hp1 others(63): Show HG00099.hp2 HG00423.hp1 HG00438.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01361.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG02055.hp1 HG02145.hp2 HG02258.hp1 HG02300.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02896.hp2 HG02922.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03540.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18966.hp2 NA18970.hp2 NA18983.hp1 NA18990.hp2 NA19002.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19065.hp1 NA19065.hp2 NA20129.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0004 a0002c0002 a0002c0003 a0002c0004	a0002c0002t0001 a0002c0002t0007 a0002c0003t0003 others(1): Show a0002c0002t0001 a0002c0002t0007 a0002c0003t0003 a0002c0004t0001	a0002c0002t0001g0015 a0002c0002t0001g0017 a0002c0002t0001g0018 others(63): Show a0002c0002t0001g0015 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0029 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0047 a0002c0002t0001g0049 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0110 a0002c0002t0001g0120 a0002c0002t0001g0136 a0002c0002t0001g0142 a0002c0002t0001g0144 a0002c0002t0001g0148 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0165 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0181 a0002c0002t0001g0190 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0313 a0002c0002t0007g0021 a0002c0002t0007g0022 a0002c0003t0003g0023 a0002c0003t0003g0035 a0002c0004t0001g0135 a0002c0004t0001g0149 a0002c0004t0001g0158 a0002c0004t0001g0168 a0002c0004t0001g0169 a0002c0004t0001g0178 a0002c0004t0001g0186 a0002c0004t0001g0189 a0002c0004t0001g0191 a0002c0004t0001g0193 a0002c0004t0001g0197 a0002c0004t0001g0199 a0002c0004t0001g0201 a0002c0004t0001g0206 a0002c0004t0001g0207 a0002c0004t0001g0221	66	322	0.2050	-12	c.33 others(23): Show c.3308_*3319delCTCCCGTCTCCC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2455		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206172867	CGGGAGAG others(5): Show CGGGAGAGGGAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 NA18968.hp2 NA19240.hp2 HG02257.hp1 NA18968.hp2 NA19240.hp2	a0002 a0010 a0002 a0010	a0002c0003 a0002c0004 a0010c0012 a0002c0003 a0002c0004 a0010c0012	a0002c0003t0001 a0002c0004t0001 a0010c0012t0001 a0002c0003t0001 a0002c0004t0001 a0010c0012t0001	a0002c0003t0001g0012 a0002c0004t0001g0304 a0010c0012t0001g0013 a0002c0003t0001g0012 a0002c0004t0001g0304 a0010c0012t0001g0013	3	322	0.0093	-12	c.33 others(23): Show c.3301_*3312delTCTCCCTCTCCC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2448		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206172885	AGGGAGAC others(5): Show AGGGAGACGGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18993.hp2 NA18960.hp1 NA18993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0166 a0002c0002t0001g0167	2	322	0.0062	-12	c.32 others(23): Show c.3283_*3294delCTCCCGTCTCCC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2430		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206172910	AGGGAGAC others(5): Show AGGGAGACGGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0304 a0002c0004t0001g0304	1	322	0.0031	-12	c.32 others(23): Show c.3258_*3269delCTCCCGTCTCCC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2405		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206172960	AGGGAGAC others(5): Show AGGGAGACGGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02109.hp2 HG02615.hp2 others(5): Show HG01109.hp1 HG02109.hp2 HG02615.hp2 HG03209.hp2 HG03540.hp1 HG03579.hp2 NA19030.hp1 NA20300.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0002c0003 a0006c0011 a0002c0002 a0002c0003 a0006c0011	a0002c0002t0001 a0002c0003t0001 a0002c0003t0009 others(1): Show a0002c0002t0001 a0002c0003t0001 a0002c0003t0009 a0006c0011t0001	a0002c0002t0001g0230 a0002c0003t0001g0005 a0002c0003t0001g0016 others(5): Show a0002c0002t0001g0230 a0002c0003t0001g0005 a0002c0003t0001g0016 a0002c0003t0001g0177 a0002c0003t0001g0256 a0002c0003t0001g0257 a0002c0003t0009g0011 a0006c0011t0001g0180	8	322	0.0248	-12	c.32 others(23): Show c.3208_*3219delCTCCCGTCTCCC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2355		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206173043	AGGGAGAC others(5): Show AGGGAGACGGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0001 a0009c0008t0001	a0009c0008t0001g0117 a0009c0008t0001g0117	1	322	0.0031	-12	c.31 others(23): Show c.3125_*3136delCTCCCGTCTCCC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2272		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206173044	GGGAGACG others(5): Show GGGAGACGGGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0115 a0002c0004t0001g0115	1	322	0.0031	-12	c.31 others(23): Show c.3124_*3135delTCTCCCGTCTCC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2271		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206174106	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01192.hp1 HG01192.hp2 others(8): Show HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01361.hp1 HG01517.hp1 HG01884.hp2 HG02148.hp1 HG02293.hp2 HG03225.hp1 HG03927.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0001 a0002c0003t0003g0023 a0002c0003t0003g0028 others(8): Show a0002c0003t0003g0001 a0002c0003t0003g0023 a0002c0003t0003g0028 a0002c0003t0003g0035 a0002c0003t0003g0077 a0002c0003t0003g0232 a0002c0003t0003g0239 a0002c0003t0003g0242 a0002c0003t0003g0247 a0002c0003t0003g0250 a0002c0003t0003g0275	11	322	0.0342	-12	c.20 others(23): Show c.2062_*2073delAAAAAAAAAAAA	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		1209		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206179054	CCTTTTTT others(5): Show CCTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03471.hp2 HG02451.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0251 a0001c0001t0004g0252	2	322	0.0062	-12	c.-28 others(29): Show c.-28-1791_-28-1780delAAAAAAAAAAAG	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding	1/1			chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206179055	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA18940.hp2 NA18971.hp2 HG02135.hp2 NA18940.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0079 a0001c0001t0002g0274 a0001c0001t0002g0050 a0001c0001t0002g0079 a0001c0001t0002g0274	3	322	0.0093	-12	c.-28 others(29): Show c.-28-1792_-28-1781delAAAAAAAAAAAA	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding	1/1			chr2	TogoVar
CMPK2_chr2_6843316_6870907	6861093	TACACACA others(5): Show TACACACACACGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(300): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0011 a0002c0003 a0002c0013 a0005c0016 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0002t0001 a0001c0002t0013 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0005t0001 a0001c0007t0001 a0001c0011t0001 a0002c0003t0002 a0002c0003t0006 a0002c0003t0012 a0002c0013t0004 a0005c0016t0001 a0006c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(131): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0176 a0001c0001t0002g0015 a0001c0001t0002g0024 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0084 a0001c0001t0002g0114 a0001c0001t0002g0118 a0001c0001t0002g0121 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0135 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0007g0080 a0001c0001t0007g0133 a0001c0001t0008g0017 a0001c0001t0010g0048 a0001c0001t0011g0033 a0001c0001t0013g0184 a0001c0001t0014g0120 a0001c0001t0015g0117 a0001c0001t0016g0124 a0001c0001t0018g0186 a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0001g0028 a0001c0002t0001g0034 a0001c0002t0001g0036 a0001c0002t0001g0039 a0001c0002t0001g0047 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0083 a0001c0002t0001g0107 a0001c0002t0001g0111 a0001c0002t0001g0126 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0142 a0001c0002t0001g0178 a0001c0002t0013g0183 a0001c0004t0002g0177 a0001c0004t0003g0200 a0001c0004t0003g0201 a0001c0004t0004g0189 a0001c0004t0004g0190 a0001c0005t0001g0018 a0001c0005t0001g0055 a0001c0007t0001g0054 a0001c0011t0001g0166 a0002c0003t0002g0009 a0002c0003t0002g0049 a0002c0003t0002g0096 a0002c0003t0002g0112 a0002c0003t0002g0122 a0002c0003t0002g0140 a0002c0003t0002g0148 a0002c0003t0006g0042 a0002c0003t0006g0123 a0002c0003t0006g0145 a0002c0003t0012g0182 a0002c0003t0012g0185 a0002c0013t0004g0202 a0005c0016t0001g0180 a0006c0008t0001g0056	303	392	0.7730	-12	c.992 others(25): Show c.992+79_992+90delGCGTGTGTGTGT	CMPK2	ENSG00000134326.12	transcript	ENST00000256722.10	protein_coding	3/4			chr2	TogoVar
CMSS1_chr3_99812862_100186732	99866073	TTCCTTTA others(5): Show TTCCTTTATTCTC	T T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0075 a0001c0001t0002g0076	2	232	0.0086	-12	c.64+ others(29): Show c.64+48049_64+48060delATTCTCTCCTTT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	99872269	CTGTGTGT others(5): Show CTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01934.hp2 others(16): Show HG01257.hp1 HG01258.hp1 HG01934.hp2 HG01978.hp2 HG02027.hp2 HG02293.hp1 HG02451.hp2 HG02523.hp1 HG02602.hp1 HG02735.hp2 HG02970.hp1 NA18942.hp1 NA18969.hp2 NA18971.hp2 NA18980.hp1 NA18990.hp2 NA19009.hp2 NA19079.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0054 a0001c0001t0002g0058 a0001c0001t0002g0059 others(16): Show a0001c0001t0002g0054 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0010g0055	19	232	0.0819	-12	c.64+ others(29): Show c.64+54269_64+54280delTGTGTGTGTGTG	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	99916437	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG00741.hp1 others(19): Show HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01256.hp2 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01981.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02630.hp1 HG03516.hp1 HG03579.hp2 HG03669.hp2 NA18954.hp1 NA18972.hp2 NA19007.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0002c0002t0003	a0001c0001t0001g0132 a0001c0001t0002g0086 a0001c0001t0002g0096 others(18): Show a0001c0001t0001g0132 a0001c0001t0002g0086 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0103 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0006g0004 a0001c0001t0006g0005 a0001c0001t0006g0006 a0001c0001t0006g0007 a0002c0002t0003g0001 a0002c0002t0003g0135	22	232	0.0948	-12	c.64+ others(29): Show c.64+98431_64+98442delACACACACACAC	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	99929513	AGTGTGTG others(5): Show AGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0002 a0001c0001t0018g0002	1	232	0.0043	-12	c.64+ others(31): Show c.64+111487_64+111498delGTGTGTGTGTGT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	99938050	AGTGTGTG others(5): Show AGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0083 a0001c0001t0005g0083	1	232	0.0043	-12	c.64+ others(31): Show c.64+120021_64+120032delTGTGTGTGTGTG	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	99958203	CATTATTA others(5): Show CATTATTATTATT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02698.hp2 HG02970.hp1 HG02257.hp1 HG02698.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0225 a0001c0001t0010g0055 a0001c0001t0010g0056 a0001c0001t0001g0225 a0001c0001t0010g0055 a0001c0001t0010g0056	3	232	0.0129	-12	c.64+ others(31): Show c.64+140197_64+140208delATTATTATTATT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	100021915	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02698.hp2 HG00323.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0225 a0001c0001t0001g0194 a0001c0001t0001g0225	2	232	0.0086	-12	c.65- others(31): Show c.65-125023_65-125012delTGTGTGTGTGTG	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	100021952	TGTGTGTG others(5): Show TGTGTGTGTGAGA	T T	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	232	0.0043	-12	c.65- others(31): Show c.65-125019_65-125008delTGTGTGTGAGAG	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	100021956	TGTGTGAG others(5): Show TGTGTGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0071 a0001c0001t0006g0071	1	232	0.0043	-12	c.65- others(31): Show c.65-125015_65-125004delTGTGAGAGAGAG	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	100021958	TGTGAGAG others(5): Show TGTGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0057 a0001c0001t0006g0057	1	232	0.0043	-12	c.65- others(31): Show c.65-125013_65-125002delTGAGAGAGAGAG	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	100021960	TGAGAGAG others(5): Show TGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0136 a0002c0002t0003g0136	1	232	0.0043	-12	c.65- others(31): Show c.65-124990_65-124979delGAGAGAGAGAGA	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	100062093	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03041.hp2 HG03471.hp2 HG02809.hp2 HG03041.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0009 a0001c0001t0009g0010 a0001c0001t0009g0040 a0001c0001t0009g0009 a0001c0001t0009g0010 a0001c0001t0009g0040	3	232	0.0129	-12	c.65- others(29): Show c.65-84855_65-84844delTTTTTTTTTTTT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	100067166	CGTTTGTT others(5): Show CGTTTGTTTGTTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03834.hp1 HG00741.hp2 HG03834.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0130 a0002c0002t0003g0138 a0002c0002t0003g0130 a0002c0002t0003g0138	2	232	0.0086	-12	c.65- others(29): Show c.65-79786_65-79775delGTTTGTTTGTTT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	100074675	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00738.hp1 others(34): Show HG00140.hp2 HG00323.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01123.hp2 HG01192.hp2 HG01433.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG02015.hp2 HG02132.hp1 HG02273.hp1 HG02293.hp2 HG02698.hp1 HG02738.hp1 HG03017.hp2 HG03490.hp1 HG03492.hp1 HG03654.hp2 HG03688.hp1 HG03834.hp1 HG03927.hp1 HG04204.hp2 HG04228.hp1 NA18943.hp2 NA18959.hp1 NA18961.hp1 NA18970.hp1 NA18973.hp1 NA19088.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 a0002c0002t0017 a0002c0002t0020	a0001c0001t0001g0132 a0001c0001t0001g0219 a0001c0001t0002g0090 others(33): Show a0001c0001t0001g0132 a0001c0001t0001g0219 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0098 a0001c0001t0002g0108 a0002c0002t0003g0001 a0002c0002t0003g0109 a0002c0002t0003g0110 a0002c0002t0003g0111 a0002c0002t0003g0112 a0002c0002t0003g0113 a0002c0002t0003g0114 a0002c0002t0003g0115 a0002c0002t0003g0117 a0002c0002t0003g0118 a0002c0002t0003g0119 a0002c0002t0003g0120 a0002c0002t0003g0122 a0002c0002t0003g0123 a0002c0002t0003g0124 a0002c0002t0003g0125 a0002c0002t0003g0126 a0002c0002t0003g0127 a0002c0002t0003g0129 a0002c0002t0003g0130 a0002c0002t0003g0133 a0002c0002t0003g0134 a0002c0002t0003g0135 a0002c0002t0003g0136 a0002c0002t0003g0137 a0002c0002t0003g0138 a0002c0002t0003g0139 a0002c0002t0003g0141 a0002c0002t0017g0131 a0002c0002t0020g0116	37	232	0.1595	-12	c.65- others(29): Show c.65-72273_65-72262delTTTTTTTTTTTT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	100115575	GTCTCTCT others(5): Show GTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02486.hp2 HG02622.hp2 others(4): Show HG01168.hp1 HG02486.hp2 HG02622.hp2 HG03041.hp2 HG03471.hp2 HG04199.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009	a0001c0001t0004g0011 a0001c0001t0004g0023 a0001c0001t0004g0028 others(4): Show a0001c0001t0004g0011 a0001c0001t0004g0023 a0001c0001t0004g0028 a0001c0001t0004g0030 a0001c0001t0007g0029 a0001c0001t0009g0010 a0001c0001t0009g0040	7	232	0.0302	-12	c.65- others(29): Show c.65-31356_65-31345delCTCTCTCTCTCT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	100135438	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01975.hp2 HG02015.hp2 others(10): Show HG00280.hp1 HG01975.hp2 HG02015.hp2 HG02129.hp1 HG02132.hp1 HG02735.hp1 HG03942.hp1 NA18522.hp1 NA18959.hp2 NA18972.hp2 NA19007.hp2 NA19056.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007	a0001c0001t0002g0013 a0001c0001t0002g0085 a0001c0001t0002g0090 others(10): Show a0001c0001t0002g0013 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0004g0011 a0001c0001t0007g0032 a0001c0001t0007g0033	13	232	0.0560	-12	c.65- others(29): Show c.65-11493_65-11482delGTGTGTGTGTGT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM2_chr16_66574463_66593275	66589828	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	-12	c.17 others(23): Show c.1710_*1721delAAAAAAAAAAAA	CMTM2	ENSG00000140932.10	transcript	ENST00000268595.3	protein_coding		1554		chr16	TogoVar
CMTM4_chr16_66609750_66701743	66633106	TATATATA others(5): Show TATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00438.hp2 others(63): Show HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00673.hp2 HG01175.hp2 HG01257.hp1 HG01358.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp2 HG01943.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp2 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02300.hp2 HG02523.hp1 HG02683.hp2 HG02698.hp2 HG03239.hp1 HG03491.hp1 HG03834.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18948.hp1 NA18950.hp2 NA18953.hp1 NA18954.hp2 NA18962.hp2 NA18963.hp2 NA18968.hp2 NA18971.hp1 NA18975.hp1 NA18981.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA19000.hp1 NA19002.hp2 NA19005.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19054.hp2 NA19058.hp2 NA19063.hp1 NA19066.hp2 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19087.hp2 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 others(11): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0030 a0001c0001t0033 a0001c0001t0035 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043	a0001c0001t0001g0001 a0001c0001t0001g0136 a0001c0001t0001g0187 others(62): Show a0001c0001t0001g0001 a0001c0001t0001g0136 a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0204 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0271 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0006g0133 a0001c0001t0006g0181 a0001c0001t0006g0220 a0001c0001t0006g0228 a0001c0001t0006g0231 a0001c0001t0006g0234 a0001c0001t0006g0239 a0001c0001t0006g0240 a0001c0001t0006g0249 a0001c0001t0006g0254 a0001c0001t0011g0020 a0001c0001t0011g0022 a0001c0001t0011g0023 a0001c0001t0017g0238 a0001c0001t0019g0217 a0001c0001t0022g0150 a0001c0001t0022g0207 a0001c0001t0023g0313 a0001c0001t0023g0314 a0001c0001t0030g0070 a0001c0001t0033g0261 a0001c0001t0035g0303 a0001c0001t0039g0212 a0001c0001t0040g0297 a0001c0001t0042g0302 a0001c0001t0043g0315	66	320	0.2063	-12	c.363 others(29): Show c.363+3287_363+3298delTTATATATATAT	CMTM4	ENSG00000183723.13	transcript	ENST00000394106.7	protein_coding	2/3			chr16	TogoVar
CMTM4_chr16_66609750_66701743	66649459	CATCTATC others(5): Show CATCTATCTATCT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0032 a0001c0002t0002g0032	1	320	0.0031	-12	c.187 others(31): Show c.187-12890_187-12879delAGATAGATAGAT	CMTM4	ENSG00000183723.13	transcript	ENST00000394106.7	protein_coding	1/3			chr16	TogoVar
CMTM4_chr16_66609750_66701743	66663532	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01069.hp2 HG02074.hp1 others(4): Show HG00609.hp2 HG01069.hp2 HG02074.hp1 HG02572.hp2 HG02922.hp2 HG03486.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0012 a0001c0001t0007g0013 a0001c0001t0007g0014 others(4): Show a0001c0001t0007g0012 a0001c0001t0007g0013 a0001c0001t0007g0014 a0001c0001t0007g0015 a0001c0001t0007g0016 a0001c0001t0007g0017 a0001c0001t0007g0018	7	320	0.0219	-12	c.187 others(31): Show c.187-26963_187-26952delAAAAAAAAAAAA	CMTM4	ENSG00000183723.13	transcript	ENST00000394106.7	protein_coding	1/3			chr16	TogoVar
CMTM7_chr3_32386853_32460528	32404150	TTCTTTTT others(5): Show TTCTTTTTTTTTC	T T	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18967.hp1 NA18960.hp2 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0143 a0001c0001t0001g0146	2	368	0.0054	-12	c.159 others(31): Show c.159+12087_159+12098delCTTTTTTTTTCT	CMTM7	ENSG00000153551.14	transcript	ENST00000334983.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM7_chr3_32386853_32460528	32412480	GACACACA others(5): Show GACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00639.hp2 others(59): Show HG00140.hp2 HG00423.hp1 HG00639.hp2 HG00673.hp1 HG00741.hp1 HG01106.hp2 HG01256.hp2 HG01943.hp1 HG01975.hp2 HG02056.hp1 HG02083.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02615.hp1 HG02647.hp1 HG02738.hp2 HG02818.hp2 HG02895.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG04184.hp2 NA18939.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18960.hp1 NA18970.hp2 NA18982.hp2 NA18983.hp1 NA18989.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19043.hp1 NA19062.hp2 NA19063.hp1 NA19066.hp2 NA19068.hp2 NA19076.hp1 NA19078.hp1 NA19079.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0003 a0001c0001 a0002c0004 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0014 a0001c0001t0017 a0002c0004t0001 a0003c0003t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0047 others(56): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0059 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0204 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0231 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0291 a0001c0001t0001g0308 a0001c0001t0001g0324 a0001c0001t0001g0328 a0001c0001t0001g0333 a0001c0001t0001g0335 a0001c0001t0001g0338 a0001c0001t0001g0343 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0244 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0005g0009 a0001c0001t0014g0292 a0001c0001t0017g0199 a0002c0004t0001g0203 a0003c0003t0001g0184	62	368	0.1685	-12	c.159 others(31): Show c.159+20464_159+20475delACACACACACAC	CMTM7	ENSG00000153551.14	transcript	ENST00000334983.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM7_chr3_32386853_32460528	32440070	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00733.hp1 others(10): Show HG00140.hp1 HG00280.hp1 HG00733.hp1 HG01258.hp1 HG01261.hp1 HG01516.hp2 HG01981.hp2 HG02148.hp1 HG02622.hp2 HG03209.hp2 NA19004.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0063 a0001c0001t0001g0072 a0001c0001t0001g0075 others(10): Show a0001c0001t0001g0063 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0134 a0001c0001t0001g0157 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0299 a0001c0001t0009g0082 a0001c0001t0009g0083 a0001c0001t0009g0087	13	368	0.0353	-12	c.160 others(29): Show c.160-1745_160-1734delACACACACACAC	CMTM7	ENSG00000153551.14	transcript	ENST00000334983.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32293024	CCATATCC others(5): Show CCATATCCTGATA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03041.hp1 HG03130.hp1 others(2): Show HG02258.hp1 HG03041.hp1 HG03130.hp1 HG06807.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0076 a0001c0001t0001g0089 a0001c0001t0001g0142 others(2): Show a0001c0001t0001g0076 a0001c0001t0001g0089 a0001c0001t0001g0142 a0001c0001t0001g0176 a0001c0004t0001g0188	5	344	0.0145	-12	c.147 others(31): Show c.147+53909_147+53920delATCCTGATACAT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32295472	AAAAAAAC others(5): Show AAAAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	344	0.0029	-12	c.147 others(31): Show c.147+56358_147+56369delAACAAAACAAAA	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32301515	CAGTGGTG others(5): Show CAGTGGTGCAGAA	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	344	0.0029	-12	c.148 others(31): Show c.148-55851_148-55840delGCAGAAAGTGGT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32361250	GGATTACA others(5): Show GGATTACAGGTGT	G G	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0204	1	344	0.0029	-12	c.321 others(29): Show c.321+3707_321+3718delTTACAGGTGTGA	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar

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