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
CLSTN1_chr1_9723926_9828965	9747176	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18990.hp1 NA18968.hp2 NA18990.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0067 a0003c0004t0002g0068 a0003c0004t0002g0067 a0003c0004t0002g0068	2	270	0.0074	18	c.985 others(35): Show c.985+2267_985+2284dupTTTTTTTTTTTTTTTTTT	CLSTN1	ENSG00000171603.18	transcript	ENST00000377298.9	protein_coding	7/18			chr1	TogoVar
CLSTN2_chr3_139930185_140582397	139955112	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02135.hp2 HG02280.hp1 others(7): Show HG01884.hp2 HG02135.hp2 HG02280.hp1 HG02559.hp2 HG02970.hp2 HG03098.hp2 HG03139.hp1 HG03704.hp2 HG04199.hp2 NA19079.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0009 a0001c0018 others(3): Show a0001c0001 a0001c0009 a0001c0018 a0002c0002 a0002c0004 a0007c0024	a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 others(6): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 a0001c0009t0022 a0001c0018t0002 a0002c0002t0004 a0002c0002t0040 a0002c0004t0017 a0007c0024t0007	a0001c0001t0001g0048 a0001c0001t0006g0040 a0001c0001t0006g0057 others(7): Show a0001c0001t0001g0048 a0001c0001t0006g0040 a0001c0001t0006g0057 a0001c0001t0014g0001 a0001c0009t0022g0049 a0001c0018t0002g0006 a0002c0002t0004g0107 a0002c0002t0040g0078 a0002c0004t0017g0061 a0007c0024t0007g0060	10	110	0.0909	18	c.109 others(37): Show c.109+19639_109+19656dupATATATATATATATATAT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140135105	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0007 a0007	a0007c0024 a0007c0024	a0007c0024t0007 a0007c0024t0007	a0007c0024t0007g0060 a0007c0024t0007g0060	1	110	0.0091	18	c.110 others(37): Show c.110-40845_110-40844insTATATATATATATATATA	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140163419	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0002 a0001c0018t0002	a0001c0018t0002g0006 a0001c0018t0002g0006	1	110	0.0091	18	c.110 others(37): Show c.110-12518_110-12501dupCACACACACACACACACA	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140211398	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02135.hp1 HG02135.hp2 others(5): Show HG01884.hp2 HG02135.hp1 HG02135.hp2 HG02970.hp1 HG03130.hp1 HG03139.hp1 HG03492.hp1 HG06807.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0005c0011	a0001c0001t0001 a0001c0001t0036 a0002c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0036 a0002c0002t0002 a0002c0002t0004 a0002c0004t0017 a0005c0011t0002	a0001c0001t0001g0048 a0001c0001t0001g0069 a0001c0001t0001g0076 others(5): Show a0001c0001t0001g0048 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0036g0044 a0002c0002t0002g0097 a0002c0002t0004g0107 a0002c0004t0017g0061 a0005c0011t0002g0087	8	110	0.0727	18	c.232 others(37): Show c.232+35336_232+35353dupCACACACACACACACACA	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140240134	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0016 a0001c0001t0029g0016	1	110	0.0091	18	c.232 others(37): Show c.232+64078_232+64079insCTCTCTCTCTCTCTCTCT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140240174	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0070 a0002c0002t0001g0070	1	110	0.0091	18	c.232 others(37): Show c.232+64102_232+64103insCTCTCTCTCTCTCTCTAT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140377022	C C	CACAGAGA others(11): Show CACAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01496.hp1 HG02257.hp1 others(5): Show HG00735.hp1 HG01496.hp1 HG02257.hp1 HG02723.hp1 HG02970.hp1 HG03139.hp2 HG03209.hp1 NA18906.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0002c0021 others(1): Show a0001c0001 a0002c0002 a0002c0021 a0005c0011	a0001c0001t0005 a0001c0001t0013 a0002c0002t0002 others(3): Show a0001c0001t0005 a0001c0001t0013 a0002c0002t0002 a0002c0002t0011 a0002c0021t0009 a0005c0011t0002	a0001c0001t0005g0026 a0001c0001t0005g0089 a0001c0001t0013g0090 others(5): Show a0001c0001t0005g0026 a0001c0001t0005g0089 a0001c0001t0013g0090 a0002c0002t0002g0029 a0002c0002t0011g0103 a0002c0021t0009g0030 a0005c0011t0002g0087 a0005c0011t0002g0101	8	110	0.0727	18	c.233 others(37): Show c.233-26606_233-26605insCAGAGAGAGAGAGAGAGA	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140377022	C C	CAGAGAGA others(11): Show CAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0016 a0001c0001t0029g0016	1	110	0.0091	18	c.233 others(37): Show c.233-26606_233-26589dupAGAGAGAGAGAGAGAGAG	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN3_chr12_7125371_7163945	7137795	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGAGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01361.hp1 HG01943.hp2 others(1): Show HG00741.hp1 HG01361.hp1 HG01943.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 others(1): Show a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094	4	394	0.0102	18	c.121 others(35): Show c.1211-159_1211-158insTGTGTGTGTGTGTGAGAG	CLSTN3	ENSG00000139182.15	transcript	ENST00000266546.11	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
CLTA_chr9_36185921_36217059	36216327	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG01361.hp1 HG01891.hp2 others(32): Show HG00438.hp2 HG01361.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02040.hp2 HG02129.hp1 HG02145.hp2 HG02148.hp1 HG02293.hp2 HG02486.hp2 HG02647.hp2 HG02698.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02976.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03669.hp2 HG03927.hp1 HG06807.hp2 NA18953.hp2 NA18956.hp1 NA18972.hp1 NA19007.hp1 NA19030.hp1 NA19062.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0003t0003	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(18): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0029 a0001c0001t0001g0049 a0001c0001t0001g0058 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0115 a0001c0001t0001g0135 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0004g0165 a0001c0002t0001g0009 a0001c0002t0003g0182 a0001c0002t0003g0191 a0001c0003t0003g0003 a0001c0003t0003g0015	35	400	0.0875	18	c.45 others(29): Show c.4553_*4554insTGTGTGTGTGTGTGTGTG	CLTA	ENSG00000122705.18	transcript	ENST00000345519.10	protein_coding		4269		chr9	TogoVar
CLUH_chr17_2684387_2716764	2693141	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02976.hp2 HG03453.hp2 HG02647.hp2 HG02976.hp2 HG03453.hp2	a0001 a0001	a0001c0010 a0001c0040 a0001c0010 a0001c0040	a0001c0010t0003 a0001c0010t0004 a0001c0040t0003 a0001c0010t0003 a0001c0010t0004 a0001c0040t0003	a0001c0010t0003g0320 a0001c0010t0004g0319 a0001c0040t0003g0324 a0001c0010t0003g0320 a0001c0010t0004g0319 a0001c0040t0003g0324	3	420	0.0071	18	c.323 others(35): Show c.3232-282_3232-281insTTTTTTTTTTTTTTTTTT	CLUH	ENSG00000132361.18	transcript	ENST00000651024.2	protein_coding	19/25			chr17	TogoVar
CLUL1_chr18_591988_655182	627017	A A	AAGAGAGA others(11): Show AAGAGAGAAAAGAAGAAAG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02148.hp2 NA19010.hp1 others(2): Show HG02135.hp2 HG02148.hp2 NA19010.hp1 NA19010.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0016 a0001c0001t0001g0084 a0001c0001t0001g0213 others(2): Show a0001c0001t0001g0016 a0001c0001t0001g0084 a0001c0001t0001g0213 a0001c0001t0001g0309 a0001c0001t0009g0218	5	414	0.0121	18	c.424 others(31): Show c.424-77_424-76insGAGAAAAGAAGAAAGAGA	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CLU_chr8_27591917_27619700	27596310	C C	CCCCACAC others(11): Show CCCCACACCTTGTCATCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0113 a0001c0001t0008g0113	1	458	0.0022	18	c.19 others(29): Show c.1930_*1931insATGATGACAAGGTGTGGG	CLU	ENSG00000120885.22	transcript	ENST00000316403.15	protein_coding		606		chr8	TogoVar
CLVS1_chr8_61282970_61506629	61331804	T T	TCTTCTCC others(11): Show TCTTCTCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0171 a0001c0001t0025g0171	1	184	0.0054	18	c.455 others(37): Show c.455+31524_455+31525insTCTCCTCCTCCTCCTCCT	CLVS1	ENSG00000177182.11	transcript	ENST00000325897.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CLVS1_chr8_61282970_61506629	61357494	C C	CTTTTTTC others(11): Show CTTTTTTCTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	184	0.0054	18	c.456 others(37): Show c.456-19105_456-19104insCTTTTTTTTTTTTTTTTT	CLVS1	ENSG00000177182.11	transcript	ENST00000325897.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CLVS1_chr8_61282970_61506629	61357494	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	184	0.0054	18	c.456 others(37): Show c.456-19100_456-19083dupTTTTTTTTTTTTTTTTTT	CLVS1	ENSG00000177182.11	transcript	ENST00000325897.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CLVS1_chr8_61282970_61506629	61392842	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02970.hp1 HG03130.hp1 HG01243.hp2 HG02970.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0029 a0001c0001t0001 a0001c0001t0029	a0001c0001t0001g0087 a0001c0001t0001g0120 a0001c0001t0029g0174 a0001c0001t0001g0087 a0001c0001t0001g0120 a0001c0001t0029g0174	3	184	0.0163	18	c.630 others(37): Show c.630+16071_630+16072insAAAAAAAAAAAAAAAAAA	CLVS1	ENSG00000177182.11	transcript	ENST00000325897.5	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CLYBL_chr13_99601690_99897570	99601833	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01257.hp1 HG01433.hp2 others(10): Show HG00099.hp2 HG01257.hp1 HG01433.hp2 HG01928.hp1 HG02056.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG04115.hp1 HG04184.hp2 NA18967.hp2 NA18979.hp2 NA19012.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0011	a0001c0001 a0003c0003 a0004c0004 others(1): Show a0001c0001 a0003c0003 a0004c0004 a0011c0007	a0001c0001t0001 a0003c0003t0001 a0004c0004t0001 others(1): Show a0001c0001t0001 a0003c0003t0001 a0004c0004t0001 a0011c0007t0001	a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 others(10): Show a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0192 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0003c0003t0001g0184 a0004c0004t0001g0211 a0011c0007t0001g0110	13	218	0.0596	18	c.-48 others(29): Show c.-4863_-4862insTTTTTTTTTTTTTTTTTT	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding		4856		chr13	TogoVar
CLYBL_chr13_99601690_99897570	99716169	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	218	0.0046	18	c.63- others(35): Show c.63-56634_63-56617dupTTTTTTTTTTTTTTTTTT	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(11): Show AAAACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02922.hp2 HG02970.hp1 others(3): Show HG02257.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03516.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0013 a0001c0001 a0010c0013	a0001c0001t0001 a0010c0013t0001 a0001c0001t0001 a0010c0013t0001	a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0079 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0079 a0001c0001t0001g0153 a0001c0001t0001g0157 a0010c0013t0001g0118	6	218	0.0275	18	c.249 others(37): Show c.249+20024_249+20025insAACACACACACACACACA	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99794581	T T	TTTATTAT others(11): Show TTTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01243.hp1 HG01433.hp1 others(14): Show HG00673.hp2 HG01243.hp1 HG01433.hp1 HG01891.hp1 HG01981.hp2 HG02109.hp2 HG02280.hp2 HG02523.hp2 HG02559.hp1 HG02630.hp2 HG03130.hp2 HG03540.hp1 NA18906.hp1 NA18971.hp2 NA18998.hp2 NA19006.hp1 NA19064.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0006c0008	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0006c0008t0001	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0017 others(14): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0105 a0001c0001t0001g0115 a0001c0001t0001g0172 a0001c0001t0001g0178 a0001c0001t0001g0188 a0001c0001t0001g0217 a0002c0002t0001g0039 a0002c0002t0001g0111 a0003c0003t0001g0186 a0004c0004t0001g0130 a0006c0008t0001g0056	17	218	0.0780	18	c.249 others(37): Show c.249+21580_249+21597dupATTATTATTATTATTATT	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(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(46): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00639.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01175.hp1 HG01243.hp1 HG01257.hp1 HG01257.hp2 HG01361.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02109.hp1 HG02132.hp2 HG02273.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp2 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG03239.hp1 HG03453.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG04115.hp2 HG04184.hp2 NA18946.hp2 NA18960.hp2 NA18972.hp1 NA18979.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA20129.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0005 a0002c0002 others(2): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0007c0010	a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 a0003c0003t0001 a0007c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0050 a0001c0001t0001g0060 others(46): Show a0001c0001t0001g0001 a0001c0001t0001g0050 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0086 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0217 a0001c0005t0001g0189 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0092 a0003c0003t0001g0184 a0007c0010t0001g0073	49	218	0.2248	18	c.249 others(37): Show c.249+24564_249+24581dupGTGTGTGTGTGTGTGTGT	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(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03098.hp1 HG03490.hp2 others(3): Show HG02486.hp2 HG03098.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp1 HG06807.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0007c0010t0001 a0001c0001t0001 a0007c0010t0001	a0001c0001t0001g0069 a0001c0001t0001g0086 a0001c0001t0001g0104 others(3): Show a0001c0001t0001g0069 a0001c0001t0001g0086 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0216 a0007c0010t0001g0073	6	218	0.0275	18	c.249 others(37): Show c.249+26383_249+26384insCACACACACACACACACA	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(11): Show TATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18972.hp1 HG00673.hp1 NA18972.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0132 a0002c0002t0001g0193 a0001c0001t0001g0132 a0002c0002t0001g0193	2	218	0.0092	18	c.250 others(37): Show c.250-39393_250-39392insTATATATATATATAAATA	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CMAS_chr12_22041218_22070668	22041945	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	450	0.0022	18	c.-43 others(29): Show c.-4359_-4358insAAAAAAAAAAAAAAAAAA	CMAS	ENSG00000111726.13	transcript	ENST00000229329.7	protein_coding		4272		chr12	TogoVar
CMAS_chr12_22041218_22070668	22060333	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01517.hp2 HG01261.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0104 a0001c0001t0002g0074 a0001c0001t0002g0104	2	450	0.0044	18	c.694 others(33): Show c.694-489_694-472dupAAAAAAAAAAAAAAAAAA	CMAS	ENSG00000111726.13	transcript	ENST00000229329.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
CMC1_chr3_28236619_28330142	28258060	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01168.hp2 HG01169.hp1 others(6): Show HG00609.hp2 HG01168.hp2 HG01169.hp1 HG01496.hp2 HG02055.hp1 HG02647.hp2 NA18967.hp1 NA19072.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0003 a0001c0001t0001g0278 a0001c0001t0001g0279 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0003g0166 a0001c0001t0004g0168 a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0308	9	338	0.0266	18	c.20- others(33): Show c.20-5222_20-5205dupTATATATATATATATATA	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(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02293.hp1 HG02300.hp1 HG02148.hp2 HG02293.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0190 a0001c0001t0001g0232 a0001c0001t0022g0231 a0001c0001t0001g0190 a0001c0001t0001g0232 a0001c0001t0022g0231	3	338	0.0089	18	c.109 others(37): Show c.109+10831_109+10832insTTTTTTTTTTTTTTTTTT	CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMC1_chr3_28236619_28330142	28300619	C C	CTCCCTCC others(11): Show CTCCCTCCCTCCATCCCTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01433.hp1 HG01168.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0219 a0001c0001t0001g0188 a0001c0001t0001g0219	2	338	0.0059	18	c.110 others(37): Show c.110-15686_110-15669dupCCATCCCTTTCCCTCCCT	CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMC1_chr3_28236619_28330142	28309821	C C	CCACACAC others(11): Show CCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0311 a0001c0001t0004g0311	1	338	0.0030	18	c.110 others(35): Show c.110-6489_110-6472dupCACACACACACACACACA	CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMC2_chr16_80961448_81011885	80965245	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 NA20129.hp1 HG00099.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0028 a0001c0001t0001 a0001c0001t0028	a0001c0001t0001g0049 a0001c0001t0028g0016 a0001c0001t0001g0049 a0001c0001t0028g0016	2	408	0.0049	18	c.10 others(31): Show c.10847_*10848insAAAAAAAAAAAAAAAAAA	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		1202		chr16	TogoVar
CMC2_chr16_80961448_81011885	80971562	T T	TTATATAT others(11): Show TTATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0058 a0002c0002t0058	a0002c0002t0058g0309 a0002c0002t0058g0309	1	408	0.0025	18	c.45 others(29): Show c.4530_*4531insTATATATATATATATATA	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding	4/4	4530		chr16	TogoVar
CMIP_chr16_81439808_81716762	81483599	T T	TCCTCTCC others(11): Show TCCTCTCCCTCTCCCTCTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02615.hp2 HG02922.hp1 others(4): Show HG02109.hp1 HG02615.hp2 HG02922.hp1 HG03195.hp2 HG03540.hp2 HG03579.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 others(4): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0173 a0001c0001t0003g0172 a0001c0001t0004g0011	7	268	0.0261	18	c.300 others(37): Show c.300+38073_300+38074insCTCCCTCTCCCTCTCCCT	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81520569	G G	GGAGAGAG others(11): Show GGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02074.hp2 NA19009.hp1 HG02004.hp2 HG02074.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0077 a0001c0001t0001g0141 a0001c0001t0001g0053 a0001c0001t0001g0077 a0001c0001t0001g0141	3	268	0.0112	18	c.300 others(37): Show c.300+75045_300+75062dupGAGAGAGAGAGAGAGAGA	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(11): Show GGGGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02109.hp2 HG02630.hp2 others(4): Show HG00438.hp2 HG02109.hp2 HG02630.hp2 HG03041.hp1 HG03486.hp2 HG06807.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0015 a0001c0001t0039	a0001c0001t0001g0131 a0001c0001t0001g0139 a0001c0001t0001g0163 others(4): Show a0001c0001t0001g0131 a0001c0001t0001g0139 a0001c0001t0001g0163 a0001c0001t0004g0174 a0001c0001t0006g0198 a0001c0001t0015g0244 a0001c0001t0039g0216	7	268	0.0261	18	c.300 others(37): Show c.300+75029_300+75030insGGAGAGAGAGAGAGAGAG	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81577428	T T	TCACCATC others(11): Show TCACCATCATCACCATCAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01109.hp2 HG01168.hp1 others(19): Show HG01081.hp2 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01433.hp1 HG01884.hp1 HG01891.hp1 HG02109.hp2 HG02451.hp2 HG02622.hp1 HG02622.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG03139.hp2 HG03225.hp1 HG03453.hp2 HG03579.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0001c0001t0024 a0001c0001t0025 a0001c0002t0001	a0001c0001t0001g0048 a0001c0001t0001g0118 a0001c0001t0001g0123 others(19): Show a0001c0001t0001g0048 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0176 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0003g0002 a0001c0001t0004g0095 a0001c0001t0004g0111 a0001c0001t0004g0120 a0001c0001t0006g0126 a0001c0001t0006g0198 a0001c0001t0006g0210 a0001c0001t0010g0006 a0001c0001t0014g0267 a0001c0001t0016g0217 a0001c0001t0024g0047 a0001c0001t0025g0191 a0001c0002t0001g0192	22	268	0.0821	18	c.301 others(37): Show c.301-30130_301-30129insCACCATCACCACCATCAT	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81598968	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0237 a0001c0001t0002g0237	1	268	0.0037	18	c.301 others(35): Show c.301-8594_301-8577dupAAAAAAAAAAAAAAAAAA	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(11): Show GTGTGTGTGTGTGTGTCTC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02622.hp2 HG02630.hp1 others(7): Show HG00323.hp1 HG02622.hp2 HG02630.hp1 HG02723.hp2 HG03041.hp1 HG03139.hp1 NA18973.hp2 NA18991.hp1 NA19009.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0021 a0001c0001t0039 a0001c0001t0045	a0001c0001t0001g0077 a0001c0001t0001g0166 a0001c0001t0001g0193 others(7): Show a0001c0001t0001g0077 a0001c0001t0001g0166 a0001c0001t0001g0193 a0001c0001t0002g0207 a0001c0001t0002g0245 a0001c0001t0004g0159 a0001c0001t0006g0126 a0001c0001t0021g0157 a0001c0001t0039g0216 a0001c0001t0045g0206	10	268	0.0373	18	c.478 others(37): Show c.478-11432_478-11431insGTGTGTGTGTGTGTCTCT	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(11): Show GTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01257.hp1 HG02148.hp2 HG00741.hp2 HG01257.hp1 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0058 a0001c0001t0001g0258 a0001c0001t0005g0096 a0001c0001t0001g0058 a0001c0001t0001g0258 a0001c0001t0005g0096	3	268	0.0112	18	c.478 others(37): Show c.478-11432_478-11431insGTGTGTGTGTGTGTGTCT	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81654231	T T	TTTATTAT others(11): Show TTTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02071.hp2 HG03579.hp2 HG02027.hp2 HG02071.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0043 a0001c0001t0001 a0001c0005t0043	a0001c0001t0001g0018 a0001c0001t0001g0173 a0001c0005t0043g0252 a0001c0001t0001g0018 a0001c0001t0001g0173 a0001c0005t0043g0252	3	268	0.0112	18	c.639 others(35): Show c.639+1874_639+1891dupTTATTATTATTATTATTA	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81667799	A A	AGAGAGAG others(11): Show AGAGAGAGAGAGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0094 a0001c0001t0003g0094	1	268	0.0037	18	c.826 others(35): Show c.826-2342_826-2341insAGAGAGAGAGTGTGTGTG	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81667799	A A	AGAGAGTG others(11): Show AGAGAGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0085 a0001c0001t0051g0085	1	268	0.0037	18	c.826 others(35): Show c.826-2342_826-2341insAGAGTGTGTGTGTGTGTG	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMKLR2_chr2_206170316_206218371	206172685	A A	AGGGAGAG others(11): Show AGGGAGAGGGAGACGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp2 HG02622.hp2 others(4): Show HG02451.hp1 HG02451.hp2 HG02622.hp2 HG02896.hp1 HG02897.hp1 HG03195.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0152 a0001c0001t0004g0179 others(4): Show a0001c0001t0004g0008 a0001c0001t0004g0152 a0001c0001t0004g0179 a0001c0001t0004g0220 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0314	7	322	0.0217	18	c.34 others(29): Show c.3494_*3495insCTCCCGTCTCCCTCTCCC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2630		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206172705	C C	CGGGAGAG others(11): Show CGGGAGAGGGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 NA18941.hp2 HG02083.hp1 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0297 a0001c0001t0001g0195 a0001c0001t0001g0297	2	322	0.0062	18	c.34 others(29): Show c.3474_*3475insTCTCCCTCTCCCTCTCCC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2610		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206180734	C C	CATTATTA others(11): Show CATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0210 a0002c0002t0001g0210	1	322	0.0031	18	c.-28 others(35): Show c.-28-3477_-28-3460dupAATAATAATAATAATAAT	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding	1/1			chr2	TogoVar
CMPK2_chr2_6843316_6870907	6855314	T T	TCTGCCTC others(11): Show TCTGCCTCTGCCCCTGCCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0197 a0001c0004t0004g0197	1	392	0.0026	18	c.993 others(35): Show c.993-3649_993-3632dupGGGCAGGGGCAGAGGCAG	CMPK2	ENSG00000134326.12	transcript	ENST00000256722.10	protein_coding	3/4			chr2	TogoVar
CMSS1_chr3_99812862_100186732	99957693	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	232	0.0043	18	c.64+ others(37): Show c.64+139661_64+139678dupTTTTTTTTTTTTTTTTTT	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(11): Show AATATGTATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01978.hp2 HG03669.hp2 others(1): Show HG00738.hp2 HG01978.hp2 HG03669.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0147 a0001c0001t0002g0149 others(1): Show a0001c0001t0002g0063 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0151	4	232	0.0172	18	c.65- others(37): Show c.65-163580_65-163579insGTATATATATATATATAT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	99984048	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02738.hp2 HG02895.hp1 others(3): Show HG02027.hp2 HG02738.hp2 HG02895.hp1 HG03130.hp1 NA19043.hp2 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0002t0019	a0001c0001t0001g0211 a0001c0001t0002g0053 a0001c0001t0002g0060 others(3): Show a0001c0001t0001g0211 a0001c0001t0002g0053 a0001c0001t0002g0060 a0001c0001t0002g0145 a0001c0001t0005g0084 a0002c0002t0019g0012	6	232	0.0259	18	c.65- others(37): Show c.65-162922_65-162921insGTGTGTGTGTGTGTGTGT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar

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