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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CLYBL_chr13_99601690_99897570	99676186	G G	GTCCTTCC others(9): Show GTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02572.hp2 HG03098.hp2 others(6): Show HG00735.hp2 HG02572.hp2 HG03098.hp2 HG03139.hp2 HG03491.hp2 HG03492.hp2 NA18522.hp1 NA18979.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0043 others(6): Show a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0093 a0001c0001t0001g0123 a0001c0001t0001g0135 a0001c0001t0001g0209 a0001c0001t0001g0210	9	218	0.0413	16	c.62+ others(33): Show c.62+69467_62+69482dupCCTTCCTTCCTTCCTT		CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99716169	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	218	0.0046	16	c.63- others(33): Show c.63-56632_63-56617dupTTTTTTTTTTTTTTTT		CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99722564	G G	GATGAATG others(9): Show GATGAATGAATGAGTGA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01192.hp1 HG01517.hp1 others(5): Show HG01069.hp1 HG01192.hp1 HG01517.hp1 HG03239.hp1 HG03669.hp1 NA18979.hp2 NA18982.hp2 NA19064.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0174 others(5): Show a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0183 a0001c0001t0001g0198 a0001c0001t0001g0205 a0002c0002t0001g0096 a0003c0003t0001g0186	8	218	0.0367	16	c.63- others(33): Show c.63-50248_63-50233dupAGTGAATGAATGAATG		CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99793033	A A	AAAACACA others(9): Show AAAACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp2 HG02109.hp2 others(10): Show HG01243.hp2 HG02055.hp2 HG02109.hp2 HG02257.hp1 HG02647.hp2 HG02886.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03471.hp1 HG03486.hp1 NA18906.hp2 NA19002.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0006c0008t0001 a0001c0001t0001 a0006c0008t0001	a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0031 others(10): Show a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0126 a0001c0001t0001g0154 a0001c0001t0001g0155 a0006c0008t0001g0056	13	218	0.0596	16	c.249 others(35): Show c.249+20024_249+20025insAACACACACACACACA		CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99797560	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01168.hp1 HG01169.hp1 others(14): Show HG00738.hp1 HG01168.hp1 HG01169.hp1 HG01975.hp1 HG01975.hp2 HG02055.hp2 HG02165.hp1 HG02572.hp1 HG02602.hp1 HG02717.hp1 HG02896.hp2 HG03041.hp2 HG03209.hp1 HG06807.hp2 NA18964.hp1 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0002c0002 a0011c0007 a0001c0001 a0002c0002 a0011c0007	a0001c0001t0001 a0002c0002t0001 a0011c0007t0001 a0001c0001t0001 a0002c0002t0001 a0011c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0015 others(14): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0045 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0093 a0001c0001t0001g0121 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0208 a0001c0001t0001g0212 a0002c0002t0001g0022 a0002c0002t0001g0191 a0011c0007t0001g0110	17	218	0.0780	16	c.249 others(35): Show c.249+24566_249+24581dupGTGTGTGTGTGTGTGT		CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99799377	T T	TCACACAC others(9): Show TCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG02055.hp1 others(18): Show HG00140.hp1 HG00323.hp1 HG02055.hp1 HG02257.hp1 HG02602.hp2 HG02647.hp1 HG02896.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03130.hp1 HG03239.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 NA18906.hp2 NA18946.hp2 NA18947.hp1 NA19060.hp2 NA19064.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0005 a0004c0004 a0001c0001 a0001c0005 a0004c0004	a0001c0001t0001 a0001c0005t0001 a0004c0004t0001 a0001c0001t0001 a0001c0005t0001 a0004c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0037 a0001c0001t0001g0050 others(18): Show a0001c0001t0001g0003 a0001c0001t0001g0037 a0001c0001t0001g0050 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0099 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0171 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0201 a0001c0005t0001g0010 a0004c0004t0001g0049	21	218	0.0963	16	c.249 others(35): Show c.249+26368_249+26383dupCACACACACACACACA		CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99818446	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA19077.hp2 NA19085.hp2 HG02886.hp2 NA19077.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0101 a0001c0001t0001g0120 a0002c0002t0001g0108 a0001c0001t0001g0101 a0001c0001t0001g0120 a0002c0002t0001g0108	3	218	0.0138	16	c.250 others(35): Show c.250-40392_250-40377dupACACACACACACACAC		CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99819416	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	218	0.0046	16	c.250 others(35): Show c.250-39408_250-39393dupTATATATATATATATA		CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99819465	T T	TATATATA others(9): Show TATATATATATATAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	218	0.0046	16	c.250 others(35): Show c.250-39393_250-39392insTATATATATAAAAATA		CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99819465	T T	TATATATA others(9): Show TATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01975.hp1 NA19060.hp1 HG01433.hp2 HG01975.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0156 a0001c0001t0001g0164 a0001c0001t0001g0012 a0001c0001t0001g0156 a0001c0001t0001g0164	3	218	0.0138	16	c.250 others(35): Show c.250-39393_250-39392insTATATATATATAAATA		CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
CMAS_chr12_22041218_22070668	22057226	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	450	0.0022	16	c.560 others(33): Show c.560-1328_560-1327insCACACACACACACACA		CMAS	ENSG00000111726.13	transcript	ENST00000229329.7	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr12	TogoVar
CMAS_chr12_22041218_22070668	22060333	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG04228.hp1 NA19070.hp2 HG02683.hp2 HG04228.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0099 a0001c0001t0002g0103 a0001c0001t0002g0084 a0001c0001t0002g0099 a0001c0001t0002g0103	3	450	0.0067	16	c.694 others(31): Show c.694-487_694-472dupAAAAAAAAAAAAAAAA		CMAS	ENSG00000111726.13	transcript	ENST00000229329.7	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr12	TogoVar
CMC1_chr3_28236619_28330142	28255722	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0016 a0001c0001t0024g0016	1	338	0.0030	16	c.20- others(31): Show c.20-7552_20-7537dupACACACACACACACAC		CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
CMC1_chr3_28236619_28330142	28255738	C C	CACACACA others(9): Show CACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0256 a0001c0001t0021g0256	1	338	0.0030	16	c.20- others(31): Show c.20-7538_20-7537insTACACACACACACACA		CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
CMC1_chr3_28236619_28330142	28258060	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02922.hp2 NA18946.hp2 others(2): Show HG02056.hp1 HG02922.hp2 NA18946.hp2 NA18947.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0277 a0001c0001t0003g0148 a0001c0001t0003g0149 others(2): Show a0001c0001t0001g0277 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0004g0307	5	338	0.0148	16	c.20- others(31): Show c.20-5220_20-5205dupTATATATATATATATA		CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
CMC1_chr3_28236619_28330142	28274206	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG04115.hp1 NA18969.hp2 others(1): Show HG02004.hp2 HG04115.hp1 NA18969.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0217 others(1): Show a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0234	4	338	0.0118	16	c.109 others(35): Show c.109+10831_109+10832insTTTTTTTTTTTTTTTT		CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
CMC1_chr3_28236619_28330142	28274212	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0322 a0001c0001t0020g0322	1	338	0.0030	16	c.109 others(35): Show c.109+10839_109+10840insTTTTTTTTTTTTTTTT		CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
CMC1_chr3_28236619_28330142	28305779	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0022 a0001c0001t0007g0022	1	338	0.0030	16	c.110 others(35): Show c.110-10538_110-10523dupTTTTTTTTTTTTTTTT		CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
CMC2_chr16_80961448_81011885	80965239	A A	ATTTATAT others(9): Show ATTTATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0255 a0001c0001t0048g0255	1	408	0.0025	16	c.10 others(29): Show c.10853_*10854insAATATATATATATAAA		CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding					1208		chr16	TogoVar
CMC2_chr16_80961448_81011885	80965245	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00621.hp2 HG01123.hp1 others(10): Show HG00280.hp2 HG00621.hp2 HG01123.hp1 HG01243.hp2 HG01433.hp1 HG02683.hp2 HG03669.hp1 HG03831.hp1 HG06807.hp1 NA18971.hp2 NA18999.hp1 NA19012.hp1 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0028 a0001c0001t0049 others(2): Show a0001c0001t0001 a0001c0001t0028 a0001c0001t0049 a0001c0001t0159 a0002c0002t0083	a0001c0001t0001g0015 a0001c0001t0001g0045 a0001c0001t0001g0046 others(9): Show a0001c0001t0001g0015 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0160 a0001c0001t0001g0195 a0001c0001t0001g0248 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0028g0016 a0001c0001t0049g0276 a0001c0001t0159g0245 a0002c0002t0083g0076	13	408	0.0319	16	c.10 others(29): Show c.10847_*10848insAAAAAAAAAAAAAAAA		CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding					1202		chr16	TogoVar
CMC2_chr16_80961448_81011885	80971599	C C	CATATATA others(9): Show CATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0130 a0001c0001t0130	a0001c0001t0130g0263 a0001c0001t0130g0263	1	408	0.0025	16	c.44 others(27): Show c.4493_*4494insATATATATATATATAT		CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding	4/4				4493		chr16	TogoVar
CMIP_chr16_81439808_81716762	81497274	C C	CTGTCCTC others(9): Show CTGTCCTCCGAGATGTG	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	268	0.0037	16	c.300 others(35): Show c.300+51735_300+51750dupGTCCTCCGAGATGTGT		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81500252	T T	TTCCGTCC others(9): Show TTCCGTCCTTCCTTCCG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02615.hp2 HG02109.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0010 a0001c0001t0004g0011 a0001c0001t0001g0010 a0001c0001t0004g0011	2	268	0.0075	16	c.300 others(35): Show c.300+54726_300+54727insGTCCGTCCTTCCTTCC		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81500256	G G	GTCCTTCC others(9): Show GTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0237 a0001c0001t0002g0237	1	268	0.0037	16	c.300 others(35): Show c.300+54730_300+54731insTTCCTTCCTTCCTTCC		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81500264	T T	TTCCTTCC others(9): Show TTCCTTCCTTCCGTCCG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01346.hp2 HG01081.hp1 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0059 a0001c0001t0001g0060	2	268	0.0075	16	c.300 others(35): Show c.300+54730_300+54731insTTCCGTCCGTCCTTCC		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81500272	G G	GTCCGTCC others(9): Show GTCCGTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	268	0.0037	16	c.300 others(35): Show c.300+54734_300+54735insGTCCTTCCTTCCTTCC		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81500272	G G	GTCCTTCC others(9): Show GTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp2 others(42): Show HG00140.hp2 HG00323.hp1 HG00408.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG01071.hp2 HG01106.hp2 HG01109.hp2 HG01192.hp1 HG01358.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG02004.hp1 HG02148.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02622.hp1 HG02683.hp2 HG02698.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03654.hp2 HG04115.hp1 NA18953.hp2 NA18960.hp1 NA18967.hp1 NA18973.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0023 a0001c0001t0029 a0001c0001t0031 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0042 a0001c0001t0046	a0001c0001t0001g0009 a0001c0001t0001g0033 a0001c0001t0001g0034 others(42): Show a0001c0001t0001g0009 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0088 a0001c0001t0001g0118 a0001c0001t0001g0133 a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0175 a0001c0001t0001g0184 a0001c0001t0001g0247 a0001c0001t0001g0253 a0001c0001t0001g0260 a0001c0001t0001g0265 a0001c0001t0002g0241 a0001c0001t0002g0245 a0001c0001t0002g0248 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0004g0111 a0001c0001t0005g0161 a0001c0001t0007g0226 a0001c0001t0007g0234 a0001c0001t0007g0249 a0001c0001t0007g0250 a0001c0001t0009g0132 a0001c0001t0009g0235 a0001c0001t0010g0006 a0001c0001t0011g0031 a0001c0001t0011g0153 a0001c0001t0014g0267 a0001c0001t0016g0217 a0001c0001t0016g0242 a0001c0001t0023g0264 a0001c0001t0029g0179 a0001c0001t0031g0158 a0001c0001t0036g0224 a0001c0001t0038g0238 a0001c0001t0039g0216 a0001c0001t0042g0233 a0001c0001t0046g0180	45	268	0.1679	16	c.300 others(35): Show c.300+54748_300+54763dupTCCTTCCTTCCTTCCT		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81500301	T T	TCCTGCCT others(9): Show TCCTGCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp2 HG02809.hp2 HG01243.hp1 HG02109.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0033 a0001c0001t0004 a0001c0001t0006 a0001c0001t0033	a0001c0001t0004g0095 a0001c0001t0006g0198 a0001c0001t0033g0110 a0001c0001t0004g0095 a0001c0001t0006g0198 a0001c0001t0033g0110	3	268	0.0112	16	c.300 others(35): Show c.300+54773_300+54788dupCCTCCCTGCCTCCCTC		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81500345	C C	CTCTCCTT others(9): Show CTCTCCTTTCCTCCCTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01346.hp2 HG02109.hp1 others(5): Show HG01081.hp1 HG01346.hp2 HG02109.hp1 HG02615.hp2 HG03195.hp2 HG03540.hp2 HG03579.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 others(5): Show a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0173 a0001c0001t0003g0172 a0001c0001t0004g0011	8	268	0.0299	16	c.300 others(35): Show c.300+54804_300+54805insTCTCCTTTCCTCCCTT		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20						chr16	TogoVar
CMIP_chr16_81439808_81716762	81520569	G G	GGAGAGAG others(9): Show GGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01257.hp2 HG01433.hp2 others(4): Show HG00438.hp1 HG01257.hp2 HG01433.hp2 HG02257.hp2 HG02293.hp2 HG03831.hp2 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0021 a0001c0001t0048	a0001c0001t0001g0021 a0001c0001t0001g0079 a0001c0001t0001g0130 others(4): Show a0001c0001t0001g0021 a0001c0001t0001g0079 a0001c0001t0001g0130 a0001c0001t0003g0143 a0001c0001t0012g0135 a0001c0001t0021g0157 a0001c0001t0048g0074	7	268	0.0261	16	c.300 others(35): Show c.300+75047_300+75062dupGAGAGAGAGAGAGAGA		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81520569	G G	GGGGAGAG others(9): Show GGGGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp2 HG01243.hp1 others(8): Show HG00639.hp2 HG01081.hp2 HG01243.hp1 HG01256.hp1 HG01884.hp1 HG02145.hp1 HG02615.hp1 HG02630.hp1 HG02698.hp1 HG03834.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0031 a0001c0001t0045 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0003g0122 others(8): Show a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0003g0122 a0001c0001t0004g0095 a0001c0001t0004g0120 a0001c0001t0004g0204 a0001c0001t0031g0158 a0001c0001t0045g0206 a0001c0002t0001g0192 a0001c0003t0001g0189 a0001c0003t0001g0197	11	268	0.0410	16	c.300 others(35): Show c.300+75029_300+75030insGGAGAGAGAGAGAGAG		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81540643	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	268	0.0037	16	c.301 others(35): Show c.301-66897_301-66882dupGTGTGTGTGTGTGTGT		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81569945	T T	TTTCATTC others(9): Show TTTCATTCATTCATTCA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0067 a0001c0001t0004g0067	1	268	0.0037	16	c.301 others(35): Show c.301-37605_301-37590dupTTCATTCATTCATTCA		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81640770	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTCTC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02004.hp2 HG03098.hp2 others(6): Show HG00735.hp2 HG02004.hp2 HG03098.hp2 HG03130.hp1 HG03540.hp2 HG03579.hp2 HG03834.hp2 NA18906.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 a0001c0001t0022	a0001c0001t0001g0012 a0001c0001t0001g0053 a0001c0001t0001g0137 others(6): Show a0001c0001t0001g0012 a0001c0001t0001g0053 a0001c0001t0001g0137 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0200 a0001c0001t0003g0268 a0001c0001t0016g0236 a0001c0001t0022g0181	9	268	0.0336	16	c.478 others(35): Show c.478-11432_478-11431insGTGTGTGTGTGTCTCT		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	3/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81640770	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(20): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00408.hp2 HG00621.hp1 HG00621.hp2 HG00735.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01496.hp2 HG03490.hp2 HG04115.hp1 NA18522.hp2 NA18612.hp1 NA18943.hp1 NA18950.hp1 NA18954.hp2 NA18982.hp1 NA18983.hp2 NA19043.hp2 NA19060.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009	a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0042 others(20): Show a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0109 a0001c0001t0001g0139 a0001c0001t0001g0155 a0001c0001t0001g0205 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0237 a0001c0001t0002g0248 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0005g0050 a0001c0001t0007g0226 a0001c0001t0007g0239 a0001c0001t0009g0132	23	268	0.0858	16	c.478 others(35): Show c.478-11432_478-11431insGTGTGTGTGTGTGTCT		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	3/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81667799	A A	AGAGAGAG others(9): Show AGAGAGAGAGAGAGAGT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	268	0.0037	16	c.826 others(33): Show c.826-2342_826-2341insAGAGAGAGAGAGAGTG		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	7/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81667799	A A	AGAGAGAG others(9): Show AGAGAGAGAGAGTGTGT	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA20129.hp1 HG04184.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0211 a0001c0001t0005g0023 a0001c0001t0002g0211 a0001c0001t0005g0023	2	268	0.0075	16	c.826 others(33): Show c.826-2342_826-2341insAGAGAGAGAGTGTGTG		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	7/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81704535	G G	GCCCCCTC others(9): Show GCCCCCTCACCCCCCCA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02976.hp1 HG01891.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0148 a0001c0001t0013g0203 a0001c0001t0013g0148 a0001c0001t0013g0203	2	268	0.0075	16	c.209 others(33): Show c.2091+453_2091+454insCCTCACCCCCCCACCC		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	18/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
CMKLR1_chr12_108283046_108344311	108343086	C C	CCTGGCTG others(9): Show CCTGGCTGCAAGGAACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0250 a0001c0002t0009g0250	1	400	0.0025	16	c.-43 others(27): Show c.-4347_-4346insAGTTCCTTGCAGCCAG		CMKLR1	ENSG00000174600.14	transcript	ENST00000550402.6	protein_coding					3776		chr12	TogoVar
CMKLR2_chr2_206170316_206218371	206174106	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0179 a0001c0001t0004g0179	1	322	0.0031	16	c.20 others(27): Show c.2073_*2074insAAAAAAAAAAAAAAAA		CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding					1209		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206207728	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0034 a0002c0003t0003g0034	1	322	0.0031	16	c.-29 others(33): Show c.-29+5563_-29+5578dupAAAAAAAAAAAAAAAA		CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding	1/1						chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206214165	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0240 a0002c0003t0003g0240	1	322	0.0031	16	c.-90 others(25): Show c.-903_-888dupAAAAAAAAAAAAAAAA		CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding					795		chr2	TogoVar
CMPK1_chr1_47328790_47383839	47336138	G G	GAAATAAA others(9): Show GAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00597.hp2 others(48): Show HG00099.hp2 HG00323.hp1 HG00597.hp2 HG00642.hp2 HG00738.hp2 HG00741.hp1 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01258.hp1 HG01358.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02280.hp1 HG02486.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02738.hp2 HG02970.hp2 HG03017.hp2 HG03041.hp2 HG03139.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18906.hp1 NA18977.hp1 NA18986.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0002c0002t0001	a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 others(45): Show a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0227 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0321 a0001c0001t0003g0028 a0001c0001t0003g0035 a0001c0001t0007g0126 a0001c0001t0007g0127 a0001c0001t0008g0089 a0001c0001t0008g0090 a0001c0001t0008g0091 a0002c0002t0001g0296	51	364	0.1401	16	c.171 others(33): Show c.171+2031_171+2046dupAAATAAATAAATAAAT		CMPK1	ENSG00000162368.15	transcript	ENST00000371873.10	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
CMSS1_chr3_99812862_100186732	99872269	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02809.hp1 NA19079.hp1 HG01975.hp2 HG02809.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0165 a0001c0001t0001g0213 a0001c0001t0007g0032 a0001c0001t0001g0165 a0001c0001t0001g0213 a0001c0001t0007g0032	3	232	0.0129	16	c.64+ others(33): Show c.64+54265_64+54280dupTGTGTGTGTGTGTGTG		CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	99957693	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	232	0.0043	16	c.64+ others(35): Show c.64+139663_64+139678dupTTTTTTTTTTTTTTTT		CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	99983389	A A	AATATGTA others(9): Show AATATGTATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01346.hp2 HG02080.hp1 others(3): Show HG01256.hp2 HG01346.hp2 HG02080.hp1 HG02735.hp2 HG02738.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0066 a0001c0001t0002g0145 others(3): Show a0001c0001t0002g0058 a0001c0001t0002g0066 a0001c0001t0002g0145 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0156	6	232	0.0259	16	c.65- others(35): Show c.65-163580_65-163579insGTATATATATATATAT		CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	99983472	A A	ATATATAT others(9): Show ATATATATGTGTATGTG	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA19009.hp2 NA18942.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0059 a0001c0001t0002g0054 a0001c0001t0002g0059	2	232	0.0086	16	c.65- others(35): Show c.65-163494_65-163493insGTGTATGTGTATATAT		CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	99984052	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	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	16	c.65- others(35): Show c.65-162914_65-162913insGTGTGTGTGTGTGTGT		CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM1_chr16_66561439_66584135	66566827	T T	TAAATGAG others(9): Show TAAATGAGATGGCGATC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG01256.hp2 HG01258.hp1 HG01358.hp1 others(2): Show HG01256.hp2 HG01258.hp1 HG01358.hp1 HG01496.hp1 HG01952.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0010 a0002c0003t0001g0010	5	398	0.0126	16	c.318 others(23): Show c.318_333dupTGAGATGGCGATCAAA	p.Glu others(5): Show p.Glu112fs	CMTM1	ENSG00000089505.18	transcript	ENST00000379500.7	protein_coding	1/4	409/1070	334/861	112/286		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMTM2_chr16_66574463_66593275	66589828	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG01258.hp1 HG01358.hp2 others(9): Show HG00621.hp2 HG01258.hp1 HG01358.hp2 HG01952.hp1 HG01993.hp1 NA18968.hp1 NA19054.hp2 NA19062.hp1 NA19079.hp2 NA19080.hp1 NA19088.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0018 a0002c0002t0001g0045 a0002c0002t0001g0003 a0002c0002t0001g0018 a0002c0002t0001g0045	12	410	0.0293	16	c.17 others(27): Show c.1709_*1710insAAAAAAAAAAAAAAAA		CMTM2	ENSG00000140932.10	transcript	ENST00000268595.3	protein_coding					1554		chr16	TogoVar

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