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
CLVS1_chr8_61282970_61506629	61331804	T T	TCTTCTC TCTTCTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp2 HG02451.hp2 others(3): Show HG01243.hp2 HG02109.hp2 HG02451.hp2 HG03486.hp1 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0019	a0001c0001t0001g0081 a0001c0001t0001g0120 a0001c0001t0001g0121 others(3): Show a0001c0001t0001g0081 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0002g0122 a0001c0001t0004g0001 a0001c0001t0019g0075	6	184	0.0326	6	c.455 others(25): Show c.455+31524_455+31525insTCTCCT	CLVS1	ENSG00000177182.11	transcript	ENST00000325897.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CLVS1_chr8_61282970_61506629	61331820	C C	CTCCTCT CTCCTCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01891.hp1 HG02486.hp2 others(1): Show HG01167.hp1 HG01891.hp1 HG02486.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0085 a0001c0001t0002g0053 a0001c0001t0002g0054 others(1): Show a0001c0001t0001g0085 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055	4	184	0.0217	6	c.455 others(25): Show c.455+31540_455+31541insCTCTTC	CLVS1	ENSG00000177182.11	transcript	ENST00000325897.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CLVS1_chr8_61282970_61506629	61331823	T T	TTCCTCC TTCCTCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp2 HG02109.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0019 a0001c0001t0004 a0001c0001t0019	a0001c0001t0004g0001 a0001c0001t0019g0075 a0001c0001t0004g0001 a0001c0001t0019g0075	2	184	0.0109	6	c.455 others(25): Show c.455+31564_455+31569dupCCTCCT	CLVS1	ENSG00000177182.11	transcript	ENST00000325897.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CLVS1_chr8_61282970_61506629	61345638	A A	ATGTGTG ATGTGTG	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18995.hp2 NA18939.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0143 a0001c0001t0002g0144 a0001c0001t0001g0143 a0001c0001t0002g0144	2	184	0.0109	6	c.456 others(25): Show c.456-30939_456-30934dupGTGTGT	CLVS1	ENSG00000177182.11	transcript	ENST00000325897.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CLVS1_chr8_61282970_61506629	61395623	T T	TAAAAGA TAAAAGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02895.hp2 HG02896.hp2 others(6): Show HG01243.hp2 HG02895.hp2 HG02896.hp2 HG02965.hp2 HG02970.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0029 a0001c0001t0030	a0001c0001t0001g0044 a0001c0001t0001g0087 a0001c0001t0001g0120 others(6): Show a0001c0001t0001g0044 a0001c0001t0001g0087 a0001c0001t0001g0120 a0001c0001t0002g0027 a0001c0001t0002g0074 a0001c0001t0003g0043 a0001c0001t0015g0049 a0001c0001t0029g0174 a0001c0001t0030g0173	9	184	0.0489	6	c.630 others(25): Show c.630+18845_630+18850dupAAAAGA	CLVS1	ENSG00000177182.11	transcript	ENST00000325897.5	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CLVS1_chr8_61282970_61506629	61451810	C C	CAGAGAG CAGAGAG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00733.hp1 HG01099.hp2 others(2): Show HG00558.hp2 HG00733.hp1 HG01099.hp2 HG01496.hp2 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0099 a0001c0001t0003g0117 others(2): Show a0001c0001t0003g0021 a0001c0001t0003g0099 a0001c0001t0003g0117 a0001c0001t0003g0146 a0001c0001t0003g0157	5	184	0.0272	6	c.631 others(23): Show c.631-2330_631-2329insGAGAGA	CLVS1	ENSG00000177182.11	transcript	ENST00000325897.5	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CLVS1_chr8_61282970_61506629	61451812	C C	CAGAGAG CAGAGAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG02257.hp1 others(7): Show HG01109.hp1 HG01243.hp1 HG02257.hp1 HG02895.hp2 HG03098.hp1 HG03098.hp2 HG03486.hp2 NA19005.hp1 NA19070.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0015	a0001c0001t0002g0027 a0001c0001t0002g0057 a0001c0001t0002g0074 others(7): Show a0001c0001t0002g0027 a0001c0001t0002g0057 a0001c0001t0002g0074 a0001c0001t0002g0091 a0001c0001t0002g0095 a0001c0001t0002g0166 a0001c0001t0002g0179 a0001c0001t0003g0017 a0001c0001t0011g0177 a0001c0001t0015g0049	10	184	0.0544	6	c.631 others(23): Show c.631-2299_631-2294dupGAGAGA	CLVS1	ENSG00000177182.11	transcript	ENST00000325897.5	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CLVS1_chr8_61282970_61506629	61455178	T T	TTGTGTG TTGTGTG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01099.hp2 HG01168.hp2 others(8): Show HG00733.hp1 HG01099.hp2 HG01168.hp2 HG01243.hp1 HG01346.hp2 HG01496.hp2 HG01515.hp2 HG02683.hp1 HG02683.hp2 NA18995.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0026	a0001c0001t0001g0020 a0001c0001t0001g0096 a0001c0001t0001g0126 others(8): Show a0001c0001t0001g0020 a0001c0001t0001g0096 a0001c0001t0001g0126 a0001c0001t0002g0068 a0001c0001t0002g0091 a0001c0001t0003g0038 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0117 a0001c0001t0003g0157 a0001c0001t0026g0083	11	184	0.0598	6	c.741 others(21): Show c.741+954_741+959dupTGTGTG	CLVS1	ENSG00000177182.11	transcript	ENST00000325897.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CLVS1_chr8_61282970_61506629	61468735	A A	AAAAAAG AAAAAAG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00733.hp1 HG01099.hp2 others(20): Show HG00558.hp2 HG00733.hp1 HG01099.hp2 HG01167.hp1 HG01243.hp2 HG01346.hp2 HG01496.hp2 HG01515.hp1 HG02056.hp1 HG02257.hp1 HG02630.hp1 HG02895.hp2 HG02970.hp1 HG03098.hp1 HG03195.hp2 HG03225.hp2 NA18612.hp2 NA18960.hp2 NA18993.hp2 NA19007.hp2 NA19012.hp1 NA19043.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0087 others(20): Show a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0120 a0001c0001t0002g0027 a0001c0001t0002g0095 a0001c0001t0002g0123 a0001c0001t0002g0179 a0001c0001t0003g0017 a0001c0001t0003g0021 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0043 a0001c0001t0003g0076 a0001c0001t0003g0080 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0115 a0001c0001t0003g0117 a0001c0001t0003g0146 a0001c0001t0003g0153 a0001c0001t0003g0157 a0001c0001t0005g0180	23	184	0.1250	6	c.977 others(25): Show c.977+10197_977+10198insAGAAAA	CLVS1	ENSG00000177182.11	transcript	ENST00000325897.5	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CLVS1_chr8_61282970_61506629	61468735	A A	AGAAAAG AGAAAAG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03540.hp2 HG02615.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0086 a0001c0001t0001g0015 a0001c0001t0001g0086	2	184	0.0109	6	c.977 others(25): Show c.977+10193_977+10194insGAAAAG	CLVS1	ENSG00000177182.11	transcript	ENST00000325897.5	protein_coding	5/5			chr8	TogoVar
CLVS2_chr6_122991235_123077925	122995058	C C	CTGTGTG CTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp1 others(66): Show HG00099.hp1 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG01109.hp1 HG01175.hp1 HG01433.hp1 HG01884.hp1 HG02004.hp2 HG02083.hp1 HG02109.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02523.hp2 HG02602.hp1 HG02615.hp2 HG02683.hp1 HG02735.hp2 HG02809.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03834.hp1 HG03942.hp2 HG04204.hp2 HG06807.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18962.hp1 NA18970.hp1 NA18973.hp1 NA18974.hp2 NA18977.hp2 NA18980.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp1 NA18991.hp2 NA18998.hp1 NA18999.hp1 NA19010.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19064.hp1 NA19068.hp1 NA19070.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19084.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0001t0031 a0001c0001t0045 a0001c0001t0047 a0001c0001t0050 a0001c0001t0051 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0002t0029	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(58): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0002g0205 a0001c0001t0002g0228 a0001c0001t0006g0008 a0001c0001t0009g0022 a0001c0001t0009g0037 a0001c0001t0009g0181 a0001c0001t0009g0183 a0001c0001t0009g0184 a0001c0001t0009g0185 a0001c0001t0011g0012 a0001c0001t0011g0064 a0001c0001t0011g0069 a0001c0001t0011g0070 a0001c0001t0011g0076 a0001c0001t0011g0084 a0001c0001t0012g0051 a0001c0001t0012g0058 a0001c0001t0012g0059 a0001c0001t0014g0196 a0001c0001t0018g0007 a0001c0001t0031g0187 a0001c0001t0031g0188 a0001c0001t0045g0172 a0001c0001t0047g0046 a0001c0001t0050g0006 a0001c0001t0051g0057 a0001c0001t0053g0088 a0001c0001t0054g0044 a0001c0001t0055g0217 a0001c0001t0056g0048 a0001c0002t0029g0041 a0001c0002t0029g0042	69	336	0.2054	6	c.-22 others(17): Show c.-2248_-2247insTGTGTG	CLVS2	ENSG00000146352.13	transcript	ENST00000275162.10	protein_coding		1176		chr6	TogoVar
CLVS2_chr6_122991235_123077925	123045142	G G	GACACAC GACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02896.hp2 HG02897.hp2 others(2): Show HG02717.hp2 HG02896.hp2 HG02897.hp2 HG06807.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0029 a0001c0002t0024 a0001c0002t0029	a0001c0002t0024g0257 a0001c0002t0024g0258 a0001c0002t0024g0259 others(2): Show a0001c0002t0024g0257 a0001c0002t0024g0258 a0001c0002t0024g0259 a0001c0002t0029g0041 a0001c0002t0029g0042	5	336	0.0149	6	c.565 others(23): Show c.565-3459_565-3454dupACACAC	CLVS2	ENSG00000146352.13	transcript	ENST00000275162.10	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
CLVS2_chr6_122991235_123077925	123070311	G G	GTCATCC GTCATCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01975.hp2 HG01978.hp1 HG02300.hp2 HG01975.hp2 HG01978.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0004 a0001c0001t0021g0005 a0001c0001t0021g0004 a0001c0001t0021g0005	3	336	0.0089	6	c.65 others(17): Show c.6553_*6558dupATCCTC	CLVS2	ENSG00000146352.13	transcript	ENST00000275162.10	protein_coding	6/6	6559	INFO_REALIGN_3_PRIME	chr6	TogoVar
CLVS2_chr6_122991235_123077925	123075325	C C	CTTTCTT CTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG02922.hp2 others(3): Show HG01884.hp2 HG02109.hp2 HG02922.hp2 HG03540.hp2 NA18906.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0016 a0001c0001t0017 a0001c0001t0071	a0001c0001t0001g0001 a0001c0001t0016g0027 a0001c0001t0016g0162 others(2): Show a0001c0001t0001g0001 a0001c0001t0016g0027 a0001c0001t0016g0162 a0001c0001t0017g0100 a0001c0001t0071g0178	6	336	0.0179	6	c.11 others(19): Show c.11564_*11565insTTTCTT	CLVS2	ENSG00000146352.13	transcript	ENST00000275162.10	protein_coding		2401		chr6	TogoVar
CLVS2_chr6_122991235_123077925	123075405	T T	TCCCTTC TCCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG01255.hp2 others(18): Show HG00639.hp1 HG00735.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01934.hp1 HG02004.hp1 HG02615.hp1 HG02683.hp2 HG02922.hp1 HG03098.hp1 HG03540.hp1 NA18972.hp2 NA18990.hp2 NA18998.hp1 NA18999.hp2 NA19030.hp1 NA19076.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0012 others(6): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0012 a0001c0001t0020 a0001c0001t0042 a0001c0001t0043 a0001c0001t0074 a0001c0001t0083 a0001c0001t0088	a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0115 others(17): Show a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0115 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0138 a0001c0001t0003g0146 a0001c0001t0010g0154 a0001c0001t0012g0051 a0001c0001t0012g0056 a0001c0001t0012g0058 a0001c0001t0012g0059 a0001c0001t0020g0031 a0001c0001t0042g0191 a0001c0001t0043g0202 a0001c0001t0043g0234 a0001c0001t0074g0113 a0001c0001t0083g0165 a0001c0001t0088g0117	21	336	0.0625	6	c.11 others(19): Show c.11644_*11645insCCCTTC	CLVS2	ENSG00000146352.13	transcript	ENST00000275162.10	protein_coding		2481		chr6	TogoVar
CLYBL_chr13_99601690_99897570	99631331	A A	ATGTGTG ATGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00733.hp1 others(30): Show HG00099.hp1 HG00280.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01071.hp2 HG01081.hp2 HG01168.hp2 HG01243.hp2 HG01361.hp2 HG01433.hp1 HG01975.hp2 HG01978.hp2 HG02055.hp2 HG02071.hp2 HG02165.hp1 HG02300.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02630.hp2 HG02735.hp1 HG03486.hp2 HG03710.hp2 NA18946.hp1 NA18964.hp2 NA18971.hp1 NA18972.hp2 NA18998.hp1 NA19004.hp2 NA19006.hp1 NA19030.hp2 NA19058.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0006 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0005c0006t0001 a0007c0010t0001	a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0025 others(30): Show a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0088 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0002g0024 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0054 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0022 a0002c0002t0001g0026 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0044 a0002c0002t0001g0111 a0002c0002t0001g0113 a0003c0003t0001g0021 a0003c0003t0001g0034 a0003c0003t0001g0048 a0004c0004t0001g0023 a0004c0004t0001g0033 a0005c0006t0001g0020 a0007c0010t0001g0073	33	218	0.1514	6	c.62+ others(23): Show c.62+24602_62+24607dupGTGTGT	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99637962	C C	CTTTTTT CTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01169.hp1 HG01891.hp2 others(8): Show HG01069.hp1 HG01169.hp1 HG01891.hp2 HG01975.hp2 HG02257.hp2 HG03195.hp1 HG03491.hp2 HG03492.hp2 NA18971.hp2 NA19030.hp1 NA19085.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0010c0013	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0010c0013t0001	a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0160 others(8): Show a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0160 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0178 a0001c0001t0001g0209 a0001c0001t0001g0210 a0002c0002t0001g0022 a0003c0003t0001g0176 a0010c0013t0001g0118	11	218	0.0505	6	c.62+ others(23): Show c.62+31219_62+31224dupTTTTTT	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99644206	G G	GTATGTA GTATGTA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02300.hp1 NA19058.hp1 HG01081.hp2 HG02300.hp1 NA19058.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0001 a0002c0002t0001 a0004c0004t0001	a0002c0002t0001g0026 a0002c0002t0001g0038 a0004c0004t0001g0023 a0002c0002t0001g0026 a0002c0002t0001g0038 a0004c0004t0001g0023	3	218	0.0138	6	c.62+ others(23): Show c.62+37450_62+37451insATGTAT	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99683059	T T	TTATATA TTATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02895.hp2 HG02970.hp1 others(2): Show HG02647.hp1 HG02895.hp2 HG02970.hp1 HG03195.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0117 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0005t0001g0010	5	218	0.0229	6	c.62+ others(23): Show c.62+76312_62+76317dupATATAT	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99684035	A A	ATTTTTT ATTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp1 HG02965.hp2 others(4): Show HG02451.hp1 HG02486.hp1 HG02965.hp2 HG03139.hp1 HG03486.hp1 HG03540.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 others(4): Show a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0005t0001g0189	7	218	0.0321	6	c.62+ others(23): Show c.62+77291_62+77296dupTTTTTT	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99716169	A A	ATTTTTT ATTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00673.hp2 HG00738.hp2 others(5): Show HG00609.hp2 HG00673.hp2 HG00738.hp2 HG01517.hp2 HG03490.hp1 HG03491.hp2 NA19060.hp1 NA20752.hp2	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0001 a0004c0004 a0009c0012 a0001c0001 a0004c0004 a0009c0012	a0001c0001t0001 a0004c0004t0001 a0009c0012t0001 a0001c0001t0001 a0004c0004t0001 a0009c0012t0001	a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0148 others(5): Show a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0209 a0004c0004t0001g0130 a0009c0012t0001g0144	8	218	0.0367	6	c.63- others(23): Show c.63-56622_63-56617dupTTTTTT	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99786750	T T	TTTCTAG TTTCTAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG01069.hp1 others(49): Show HG00140.hp1 HG00140.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01169.hp2 HG01175.hp2 HG01517.hp1 HG01928.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02056.hp1 HG02080.hp2 HG02132.hp1 HG02165.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp2 HG02717.hp1 HG02809.hp2 HG03098.hp1 HG03098.hp2 HG03239.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp2 HG03710.hp1 HG04204.hp1 HG04204.hp2 NA18971.hp2 NA18972.hp2 NA18979.hp2 NA19006.hp1 NA19006.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19064.hp2 NA19077.hp1 NA19085.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0011	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0006 a0007c0010 a0011c0007	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(4): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0005c0006t0001 a0007c0010t0001 a0011c0007t0001	a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0045 others(49): Show a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0218 a0002c0002t0001g0026 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0052 a0002c0002t0001g0096 a0003c0003t0001g0176 a0003c0003t0001g0186 a0003c0003t0001g0203 a0004c0004t0001g0211 a0005c0006t0001g0020 a0005c0006t0001g0109 a0007c0010t0001g0073 a0011c0007t0001g0110	52	218	0.2385	6	c.249 others(25): Show c.249+13747_249+13752dupTTCTAG	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99793033	A A	AACACAC AACACAC	intron_variant intron_variant	MODIFIER	HG01975.hp2 NA19004.hp1 HG01975.hp2 NA19004.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0022 a0003c0003t0001g0177 a0002c0002t0001g0022 a0003c0003t0001g0177	2	218	0.0092	6	c.249 others(25): Show c.249+20053_249+20058dupCACACA	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99818446	A A	AACACAC AACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02630.hp1 HG02809.hp1 others(7): Show HG02559.hp1 HG02630.hp1 HG02809.hp1 HG02896.hp2 HG03041.hp2 HG03130.hp2 HG03209.hp2 HG03710.hp1 NA19006.hp1 NA20129.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0011 a0001c0001 a0002c0002 a0008c0011	a0001c0001t0001 a0002c0002t0001 a0008c0011t0001 a0001c0001t0001 a0002c0002t0001 a0008c0011t0001	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0016 others(7): Show a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0053 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0084 a0002c0002t0001g0039 a0002c0002t0001g0080 a0008c0011t0001g0002	10	218	0.0459	6	c.250 others(25): Show c.250-40382_250-40377dupACACAC	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99819465	T T	TATATAA TATATAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG03579.hp2 NA18946.hp1 others(2): Show HG02080.hp2 HG03579.hp2 NA18946.hp1 NA18979.hp1 NA19064.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0025 a0001c0001t0001g0063 a0001c0001t0001g0123 others(2): Show a0001c0001t0001g0025 a0001c0001t0001g0063 a0001c0001t0001g0123 a0001c0001t0001g0214 a0003c0003t0001g0186	5	218	0.0229	6	c.250 others(25): Show c.250-39393_250-39392insTAAATA	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99832999	C C	CATATAT CATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01168.hp1 HG01175.hp2 others(9): Show HG00735.hp2 HG01168.hp1 HG01175.hp2 HG01517.hp1 HG02056.hp2 HG03209.hp1 HG04115.hp1 HG04115.hp2 NA18946.hp2 NA19060.hp1 NA19064.hp2 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0045 a0001c0001t0001g0068 a0001c0001t0001g0071 others(9): Show a0001c0001t0001g0045 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0103 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0156 a0001c0001t0001g0166 a0001c0001t0001g0181 a0001c0001t0001g0192 a0002c0002t0001g0096 a0003c0003t0001g0186	12	218	0.0551	6	c.250 others(25): Show c.250-25859_250-25858insTATATA	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99880050	G G	GTATATA GTATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01074.hp2 HG01169.hp1 others(2): Show HG00609.hp2 HG01074.hp2 HG01169.hp1 HG02630.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0141 a0001c0001t0001g0150 a0001c0001t0001g0157 others(2): Show a0001c0001t0001g0141 a0001c0001t0001g0150 a0001c0001t0001g0157 a0001c0001t0001g0167 a0002c0002t0001g0111	5	218	0.0229	6	c.927 others(23): Show c.927+9002_927+9007dupATATAT	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99880068	A A	ATTTTTT ATTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02717.hp1 HG03139.hp2 others(2): Show HG02257.hp2 HG02717.hp1 HG03139.hp2 HG03453.hp2 HG03471.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0013 a0001c0001 a0010c0013	a0001c0001t0001 a0010c0013t0001 a0001c0001t0001 a0010c0013t0001	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 others(2): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0121 a0010c0013t0001g0118	5	218	0.0229	6	c.927 others(23): Show c.927+9018_927+9023dupTTTTTT	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CMA1_chr14_24500353_24513265	24505174	T T	TTCTCTC TTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG01109.hp2 HG02723.hp1 others(10): Show HG00438.hp1 HG01109.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG06807.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0031 a0001c0001t0005g0015	13	432	0.0301	6	c.34 others(15): Show c.341_*342insGAGAGA	CMA1	ENSG00000092009.10	transcript	ENST00000250378.7	protein_coding		178		chr14	TogoVar
CMA1_chr14_24500353_24513265	24505209	T T	TACACAC TACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03471.hp2 HG03516.hp2 others(1): Show HG03041.hp1 HG03471.hp2 HG03516.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0018 a0001c0002t0001g0005 a0001c0002t0001g0018	4	432	0.0093	6	c.30 others(15): Show c.306_*307insGTGTGT	CMA1	ENSG00000092009.10	transcript	ENST00000250378.7	protein_coding		143		chr14	TogoVar
CMAS_chr12_22041218_22070668	22057226	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp1 HG00735.hp1 others(26): Show HG00280.hp2 HG00642.hp1 HG00735.hp1 HG01261.hp2 HG02293.hp1 HG03453.hp1 HG03669.hp2 HG03831.hp1 NA18955.hp1 NA18957.hp1 NA18961.hp2 NA18963.hp2 NA18969.hp2 NA18972.hp2 NA18979.hp2 NA18984.hp1 NA18986.hp2 NA18994.hp2 NA19000.hp1 NA19003.hp1 NA19006.hp2 NA19007.hp1 NA19055.hp1 NA19078.hp2 NA19079.hp2 NA19081.hp1 NA19091.hp2 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0004 a0001c0001t0001g0045 a0001c0001t0001g0057 others(16): Show a0001c0001t0001g0004 a0001c0001t0001g0045 a0001c0001t0001g0057 a0001c0001t0001g0108 a0001c0001t0001g0127 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0276 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0111 a0001c0001t0002g0225 a0001c0001t0003g0223 a0001c0001t0003g0224	29	450	0.0644	6	c.560 others(23): Show c.560-1333_560-1328dupCACACA	CMAS	ENSG00000111726.13	transcript	ENST00000229329.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
CMAS_chr12_22041218_22070668	22057240	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02622.hp1 HG02809.hp1 others(2): Show HG02572.hp1 HG02622.hp1 HG02809.hp1 HG03486.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0047 a0001c0001t0004g0176 a0001c0001t0004g0177 others(1): Show a0001c0001t0004g0047 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0178	5	450	0.0111	6	c.560 others(23): Show c.560-1297_560-1292dupCACACA	CMAS	ENSG00000111726.13	transcript	ENST00000229329.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
CMBL_chr5_10272595_10312902	10283092	G G	GAAAAAA GAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00733.hp1 HG00741.hp1 others(34): Show HG00558.hp2 HG00733.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01168.hp1 HG01169.hp2 HG01433.hp1 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG02055.hp2 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03579.hp1 HG03710.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18946.hp2 NA18998.hp1 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0021 others(2): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0021 a0001c0002t0032 a0001c0002t0033	a0001c0002t0002g0064 a0001c0002t0002g0102 a0001c0002t0002g0178 others(29): Show a0001c0002t0002g0064 a0001c0002t0002g0102 a0001c0002t0002g0178 a0001c0002t0002g0215 a0001c0002t0003g0013 a0001c0002t0003g0022 a0001c0002t0003g0035 a0001c0002t0003g0038 a0001c0002t0003g0040 a0001c0002t0003g0046 a0001c0002t0003g0078 a0001c0002t0003g0080 a0001c0002t0003g0086 a0001c0002t0003g0087 a0001c0002t0003g0092 a0001c0002t0003g0093 a0001c0002t0003g0095 a0001c0002t0003g0107 a0001c0002t0003g0113 a0001c0002t0003g0124 a0001c0002t0003g0170 a0001c0002t0003g0177 a0001c0002t0003g0181 a0001c0002t0003g0183 a0001c0002t0003g0195 a0001c0002t0003g0240 a0001c0002t0003g0242 a0001c0002t0003g0246 a0001c0002t0003g0247 a0001c0002t0021g0231 a0001c0002t0032g0108 a0001c0002t0033g0050	37	350	0.1057	6	c.467 others(21): Show c.467-810_467-805dupTTTTTT	CMBL	ENSG00000164237.9	transcript	ENST00000296658.4	protein_coding	4/5			chr5	TogoVar
CMBL_chr5_10272595_10312902	10285686	T T	TTCTTTC TTCTTTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02559.hp1 HG03486.hp2 HG02055.hp1 HG02559.hp1 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0212 a0001c0002t0009g0214 a0001c0002t0009g0221 a0001c0002t0009g0212 a0001c0002t0009g0214 a0001c0002t0009g0221	3	350	0.0086	6	c.466 others(21): Show c.466+667_466+668insGAAAGA	CMBL	ENSG00000164237.9	transcript	ENST00000296658.4	protein_coding	4/5			chr5	TogoVar
CMC1_chr3_28236619_28330142	28255722	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00558.hp1 others(81): Show HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01168.hp1 HG01192.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp2 HG01943.hp1 HG01975.hp1 HG02004.hp2 HG02027.hp2 HG02074.hp2 HG02080.hp2 HG02148.hp2 HG02155.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02602.hp2 HG02622.hp2 HG02683.hp1 HG02717.hp1 HG02735.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG03139.hp1 HG03195.hp2 HG03490.hp1 HG03669.hp2 HG03710.hp2 HG04115.hp1 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18943.hp2 NA18947.hp1 NA18950.hp2 NA18954.hp2 NA18959.hp2 NA18962.hp2 NA18967.hp2 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp2 NA18984.hp1 NA18989.hp1 NA18989.hp2 NA19000.hp2 NA19003.hp1 NA19004.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19062.hp2 NA19064.hp2 NA19068.hp2 NA19072.hp2 NA19075.hp2 NA19077.hp1 NA19078.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19091.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0022 a0001c0001t0036 a0001c0001t0042	a0001c0001t0001g0010 a0001c0001t0001g0152 a0001c0001t0001g0163 others(79): Show a0001c0001t0001g0010 a0001c0001t0001g0152 a0001c0001t0001g0163 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0252 a0001c0001t0001g0261 a0001c0001t0001g0275 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0204 a0001c0001t0002g0208 a0001c0001t0002g0221 a0001c0001t0003g0009 a0001c0001t0003g0182 a0001c0001t0004g0184 a0001c0001t0005g0199 a0001c0001t0005g0239 a0001c0001t0005g0242 a0001c0001t0005g0244 a0001c0001t0005g0247 a0001c0001t0005g0250 a0001c0001t0005g0251 a0001c0001t0006g0254 a0001c0001t0006g0269 a0001c0001t0006g0273 a0001c0001t0006g0274 a0001c0001t0007g0014 a0001c0001t0008g0164 a0001c0001t0012g0189 a0001c0001t0022g0231 a0001c0001t0036g0153 a0001c0001t0042g0212	84	338	0.2485	6	c.20- others(21): Show c.20-7542_20-7537dupACACAC	CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMC1_chr3_28236619_28330142	28258060	T T	TTATATA TTATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02976.hp2 NA18977.hp2 others(2): Show HG02717.hp1 HG02976.hp2 NA18977.hp2 NA19030.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0015	a0001c0001t0001g0163 a0001c0001t0004g0286 a0001c0001t0008g0160 others(2): Show a0001c0001t0001g0163 a0001c0001t0004g0286 a0001c0001t0008g0160 a0001c0001t0008g0167 a0001c0001t0015g0056	5	338	0.0148	6	c.20- others(21): Show c.20-5210_20-5205dupTATATA	CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMC1_chr3_28236619_28330142	28274220	C C	CTTTTTT CTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp2 HG00735.hp1 others(76): Show HG00639.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01106.hp1 HG01109.hp2 HG01192.hp1 HG01243.hp2 HG01257.hp1 HG01261.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp2 HG01934.hp2 HG01975.hp2 HG01993.hp2 HG02004.hp1 HG02083.hp1 HG02109.hp2 HG02148.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02717.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18960.hp2 NA18967.hp1 NA18975.hp1 NA18978.hp1 NA18979.hp2 NA18984.hp2 NA18989.hp2 NA18994.hp2 NA18998.hp1 NA19000.hp1 NA19006.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19065.hp2 NA19066.hp2 NA19072.hp1 NA19081.hp1 NA19084.hp1 NA19088.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041	a0001c0001t0001g0032 a0001c0001t0001g0132 a0001c0001t0001g0152 others(69): Show a0001c0001t0001g0032 a0001c0001t0001g0132 a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0275 a0001c0001t0002g0156 a0001c0001t0003g0001 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0011 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0033 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0142 a0001c0001t0003g0144 a0001c0001t0003g0146 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0157 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0169 a0001c0001t0003g0276 a0001c0001t0003g0309 a0001c0001t0003g0319 a0001c0001t0004g0168 a0001c0001t0006g0262 a0001c0001t0006g0269 a0001c0001t0006g0271 a0001c0001t0006g0273 a0001c0001t0006g0274 a0001c0001t0007g0143 a0001c0001t0007g0147 a0001c0001t0008g0128 a0001c0001t0008g0160 a0001c0001t0008g0161 a0001c0001t0008g0162 a0001c0001t0008g0164 a0001c0001t0008g0167 a0001c0001t0009g0265 a0001c0001t0009g0266 a0001c0001t0009g0267 a0001c0001t0009g0268 a0001c0001t0011g0270 a0001c0001t0032g0272 a0001c0001t0034g0141 a0001c0001t0035g0019 a0001c0001t0036g0153 a0001c0001t0039g0159 a0001c0001t0040g0131 a0001c0001t0041g0151	79	338	0.2337	6	c.109 others(25): Show c.109+10850_109+10855dupTTTTTT	CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMC1_chr3_28236619_28330142	28284728	T T	TTGTGTG TTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00609.hp2 others(44): Show HG00280.hp1 HG00423.hp2 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG00741.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01433.hp2 HG01928.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02155.hp2 HG02293.hp2 HG02738.hp2 HG03654.hp1 HG03942.hp1 HG04184.hp2 HG04228.hp1 NA18612.hp2 NA18944.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18957.hp1 NA18960.hp1 NA18961.hp2 NA18969.hp1 NA18977.hp1 NA19003.hp2 NA19062.hp1 NA19072.hp1 NA19075.hp1 NA19087.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0001t0017 a0001c0001t0037	a0001c0001t0002g0314 a0001c0001t0004g0012 a0001c0001t0004g0109 others(43): Show a0001c0001t0002g0314 a0001c0001t0004g0012 a0001c0001t0004g0109 a0001c0001t0004g0110 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0004g0168 a0001c0001t0004g0184 a0001c0001t0004g0249 a0001c0001t0004g0253 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0286 a0001c0001t0004g0287 a0001c0001t0004g0288 a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0004g0299 a0001c0001t0004g0300 a0001c0001t0004g0301 a0001c0001t0004g0302 a0001c0001t0004g0303 a0001c0001t0004g0304 a0001c0001t0004g0306 a0001c0001t0004g0307 a0001c0001t0004g0308 a0001c0001t0004g0310 a0001c0001t0004g0311 a0001c0001t0004g0312 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0004g0318 a0001c0001t0013g0295 a0001c0001t0013g0305 a0001c0001t0017g0069 a0001c0001t0017g0283 a0001c0001t0037g0313	47	338	0.1391	6	c.109 others(25): Show c.109+21349_109+21350insGTGTGT	CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMC1_chr3_28236619_28330142	28285364	G G	GAAAATA GAAAATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00609.hp2 others(132): Show HG00280.hp1 HG00423.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01928.hp1 HG01934.hp2 HG01975.hp2 HG01993.hp2 HG02004.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02109.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02647.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04228.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18957.hp1 NA18960.hp1 NA18961.hp2 NA18967.hp1 NA18969.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18984.hp2 NA18989.hp2 NA18994.hp2 NA18998.hp1 NA19000.hp1 NA19003.hp2 NA19006.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19062.hp1 NA19065.hp2 NA19066.hp2 NA19072.hp1 NA19075.hp1 NA19081.hp1 NA19084.hp1 NA19087.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040	a0001c0001t0001g0132 a0001c0001t0001g0145 a0001c0001t0001g0152 others(122): Show a0001c0001t0001g0132 a0001c0001t0001g0145 a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0002g0314 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0011 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0033 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0142 a0001c0001t0003g0144 a0001c0001t0003g0146 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0157 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0169 a0001c0001t0003g0276 a0001c0001t0003g0309 a0001c0001t0003g0319 a0001c0001t0004g0012 a0001c0001t0004g0109 a0001c0001t0004g0110 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0004g0168 a0001c0001t0004g0184 a0001c0001t0004g0249 a0001c0001t0004g0253 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0286 a0001c0001t0004g0287 a0001c0001t0004g0288 a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0001t0004g0299 a0001c0001t0004g0300 a0001c0001t0004g0301 a0001c0001t0004g0302 a0001c0001t0004g0303 a0001c0001t0004g0304 a0001c0001t0004g0306 a0001c0001t0004g0307 a0001c0001t0004g0308 a0001c0001t0004g0310 a0001c0001t0004g0311 a0001c0001t0004g0312 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0004g0318 a0001c0001t0006g0262 a0001c0001t0006g0269 a0001c0001t0006g0271 a0001c0001t0006g0273 a0001c0001t0006g0274 a0001c0001t0007g0021 a0001c0001t0007g0022 a0001c0001t0007g0143 a0001c0001t0007g0147 a0001c0001t0008g0128 a0001c0001t0008g0160 a0001c0001t0008g0161 a0001c0001t0008g0162 a0001c0001t0008g0164 a0001c0001t0008g0167 a0001c0001t0009g0265 a0001c0001t0009g0266 a0001c0001t0009g0267 a0001c0001t0009g0268 a0001c0001t0010g0258 a0001c0001t0010g0259 a0001c0001t0010g0260 a0001c0001t0013g0295 a0001c0001t0013g0305 a0001c0001t0017g0069 a0001c0001t0017g0283 a0001c0001t0018g0257 a0001c0001t0020g0322 a0001c0001t0021g0256 a0001c0001t0024g0016 a0001c0001t0030g0020 a0001c0001t0032g0272 a0001c0001t0033g0015 a0001c0001t0034g0141 a0001c0001t0035g0019 a0001c0001t0036g0153 a0001c0001t0037g0313 a0001c0001t0039g0159 a0001c0001t0040g0131	135	338	0.3994	6	c.109 others(25): Show c.109+21984_109+21985insAAAATA	CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	2/3			chr3	TogoVar
CMC1_chr3_28236619_28330142	28309821	C C	CCACACA CCACACA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00673.hp1 HG00741.hp2 others(43): Show HG00642.hp1 HG00673.hp1 HG00741.hp2 HG01099.hp1 HG01099.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01934.hp1 HG02056.hp1 HG02071.hp1 HG02109.hp1 HG02155.hp2 HG02258.hp2 HG02293.hp2 HG02451.hp1 HG02572.hp2 HG02615.hp1 HG02738.hp2 HG02818.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp2 HG03579.hp1 HG04184.hp2 HG04228.hp2 NA18612.hp2 NA18946.hp1 NA18950.hp1 NA18952.hp1 NA18957.hp1 NA18960.hp1 NA18969.hp1 NA18998.hp1 NA19000.hp2 NA19003.hp2 NA19062.hp1 NA19075.hp1 NA20300.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0027 a0001c0001t0030 a0001c0001t0040	a0001c0001t0001g0013 a0001c0001t0001g0037 a0001c0001t0001g0039 others(41): Show a0001c0001t0001g0013 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0076 a0001c0001t0001g0089 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0277 a0001c0001t0001g0321 a0001c0001t0002g0314 a0001c0001t0003g0011 a0001c0001t0004g0109 a0001c0001t0004g0112 a0001c0001t0004g0249 a0001c0001t0004g0253 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0004g0287 a0001c0001t0004g0290 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0296 a0001c0001t0004g0298 a0001c0001t0004g0301 a0001c0001t0004g0303 a0001c0001t0004g0304 a0001c0001t0004g0307 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0318 a0001c0001t0005g0247 a0001c0001t0008g0161 a0001c0001t0011g0087 a0001c0001t0013g0295 a0001c0001t0017g0283 a0001c0001t0019g0255 a0001c0001t0021g0256 a0001c0001t0023g0291 a0001c0001t0027g0074 a0001c0001t0030g0020 a0001c0001t0040g0131	46	338	0.1361	6	c.110 others(23): Show c.110-6477_110-6472dupCACACA	CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMC2_chr16_80961448_81011885	80965247	T T	TTATATA TTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG02015.hp1 HG02155.hp1 others(20): Show HG00673.hp1 HG02015.hp1 HG02155.hp1 HG02165.hp1 HG02602.hp1 HG03831.hp2 NA18940.hp2 NA18941.hp2 NA18951.hp2 NA18954.hp1 NA18956.hp2 NA18962.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18975.hp2 NA18986.hp1 NA18994.hp2 NA18995.hp2 NA19068.hp1 NA19082.hp2 NA19084.hp1 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0007 others(8): Show a0002c0002t0002 a0002c0002t0004 a0002c0002t0007 a0002c0002t0011 a0002c0002t0012 a0002c0002t0034 a0002c0002t0035 a0002c0002t0039 a0002c0002t0071 a0002c0002t0076 a0002c0002t0079	a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0023 others(16): Show a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0023 a0002c0002t0002g0285 a0002c0002t0004g0010 a0002c0002t0004g0244 a0002c0002t0007g0031 a0002c0002t0007g0117 a0002c0002t0007g0139 a0002c0002t0011g0032 a0002c0002t0011g0151 a0002c0002t0012g0006 a0002c0002t0012g0157 a0002c0002t0034g0115 a0002c0002t0035g0132 a0002c0002t0039g0099 a0002c0002t0071g0143 a0002c0002t0076g0129 a0002c0002t0079g0141	23	408	0.0564	6	c.10 others(19): Show c.10845_*10846insTATATA	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		1200		chr16	TogoVar
CMC2_chr16_80961448_81011885	80971562	T T	TTATATA TTATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02258.hp2 HG02572.hp2 HG02615.hp2 others(4): Show HG02258.hp2 HG02572.hp2 HG02615.hp2 HG03471.hp1 HG03579.hp2 NA18994.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0023 a0002c0002t0081 a0002c0002t0093 others(2): Show a0002c0002t0023 a0002c0002t0081 a0002c0002t0093 a0002c0002t0100 a0002c0002t0103	a0002c0002t0023g0027 a0002c0002t0023g0109 a0002c0002t0081g0159 others(3): Show a0002c0002t0023g0027 a0002c0002t0023g0109 a0002c0002t0081g0159 a0002c0002t0093g0102 a0002c0002t0100g0303 a0002c0002t0103g0105	7	408	0.0172	6	c.45 others(17): Show c.4530_*4531insTATATA	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding	4/4	4530		chr16	TogoVar
CMC2_chr16_80961448_81011885	80971584	A A	ATATGTG ATATGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01981.hp1 HG02074.hp2 HG02165.hp2 others(2): Show HG01981.hp1 HG02074.hp2 HG02165.hp2 NA18991.hp1 NA19079.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0074 a0002c0002t0086 a0002c0002t0022 a0002c0002t0074 a0002c0002t0086	a0002c0002t0022g0114 a0002c0002t0022g0137 a0002c0002t0022g0148 others(2): Show a0002c0002t0022g0114 a0002c0002t0022g0137 a0002c0002t0022g0148 a0002c0002t0074g0140 a0002c0002t0086g0087	5	408	0.0123	6	c.45 others(17): Show c.4508_*4509insCACATA	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding	4/4	4508		chr16	TogoVar
CMC2_chr16_80961448_81011885	80985901	C C	CAAAAAA CAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00597.hp2 others(29): Show HG00544.hp1 HG00544.hp2 HG00597.hp2 HG01109.hp2 HG01433.hp1 HG01515.hp1 HG01975.hp1 HG01975.hp2 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02129.hp1 HG02132.hp2 HG02257.hp1 HG02273.hp2 HG02683.hp1 HG03831.hp1 NA18939.hp2 NA18963.hp2 NA18978.hp1 NA18981.hp1 NA18981.hp2 NA18985.hp1 NA19000.hp1 NA19004.hp2 NA19009.hp1 NA19030.hp2 NA19066.hp2 NA19076.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0017 a0001c0001t0019 others(9): Show a0001c0001t0001 a0001c0001t0017 a0001c0001t0019 a0001c0001t0025 a0001c0001t0029 a0001c0001t0048 a0001c0001t0051 a0001c0001t0120 a0001c0001t0151 a0001c0001t0154 a0002c0002t0164 a0002c0002t0166	a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0045 others(23): Show a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0001g0233 a0001c0001t0017g0193 a0001c0001t0017g0200 a0001c0001t0019g0215 a0001c0001t0025g0213 a0001c0001t0029g0231 a0001c0001t0048g0257 a0001c0001t0051g0216 a0001c0001t0051g0218 a0001c0001t0120g0168 a0001c0001t0151g0182 a0001c0001t0154g0279 a0002c0002t0164g0299 a0002c0002t0166g0296	32	408	0.0784	6	c.82- others(21): Show c.82-4030_82-4025dupTTTTTT	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding	2/3			chr16	TogoVar
CMC2_chr16_80961448_81011885	81005425	A A	AATATAT AATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02148.hp1 HG02280.hp1 others(2): Show HG01081.hp2 HG02148.hp1 HG02280.hp1 HG03225.hp1 NA19075.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0087 a0002c0002t0095 others(2): Show a0002c0002t0005 a0002c0002t0087 a0002c0002t0095 a0002c0002t0109 a0002c0002t0110	a0002c0002t0005g0104 a0002c0002t0087g0069 a0002c0002t0095g0068 others(2): Show a0002c0002t0005g0104 a0002c0002t0087g0069 a0002c0002t0095g0068 a0002c0002t0109g0070 a0002c0002t0110g0071	5	408	0.0123	6	c.-36 others(23): Show c.-36+1303_-36+1308dupATATAT	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding	1/3			chr16	TogoVar
CMC4_chrX_155056622_155076136	155061439	C C	CAAAAAA CAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG02738.hp1 HG01358.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	292	0.0069	6	c.40 others(15): Show c.403_*404insTTTTTT	CMC4	ENSG00000182712.16	transcript	ENST00000369484.8	protein_coding		182		chrX	TogoVar
CMC4_chrX_155056622_155076136	155071281	G G	GCCCCGC GCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00558.hp1 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	292	0.0069	6	c.-60 others(15): Show c.-604_-599dupGCGGGG	CMC4	ENSG00000182712.16	transcript	ENST00000369484.8	protein_coding		146		chrX	TogoVar
CMIP_chr16_81439808_81716762	81483599	T T	TCCTCTC TCCTCTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp1 HG01070.hp1 others(14): Show HG00099.hp1 HG00735.hp1 HG01070.hp1 HG01243.hp2 HG02056.hp2 HG02258.hp2 HG02896.hp2 HG03225.hp1 HG03490.hp2 HG03704.hp2 HG04115.hp2 HG06807.hp2 NA18945.hp2 NA19011.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0018	a0001c0001t0001g0019 a0001c0001t0001g0056 a0001c0001t0001g0086 others(14): Show a0001c0001t0001g0019 a0001c0001t0001g0056 a0001c0001t0001g0086 a0001c0001t0001g0109 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0003g0098 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0268 a0001c0001t0004g0007 a0001c0001t0005g0052 a0001c0001t0005g0054 a0001c0001t0008g0078 a0001c0001t0012g0055 a0001c0001t0018g0017	17	268	0.0634	6	c.300 others(25): Show c.300+38068_300+38073dupCTCCCT	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81500331	G G	GCCTCCC GCCTCCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02004.hp2 HG03490.hp2 others(2): Show HG01243.hp2 HG02004.hp2 HG03490.hp2 HG03704.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0086 others(2): Show a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0086 a0001c0001t0005g0052 a0001c0001t0005g0054	5	268	0.0187	6	c.300 others(25): Show c.300+54790_300+54791insCCTCCC	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20			chr16	TogoVar
CMIP_chr16_81439808_81716762	81540643	A A	AGTGTGT AGTGTGT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01891.hp2 HG02071.hp2 others(5): Show HG01346.hp2 HG01891.hp2 HG02071.hp2 HG02647.hp2 HG02895.hp1 HG02897.hp2 HG03486.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0029 a0001c0001t0001 a0001c0001t0013 a0001c0001t0029	a0001c0001t0001g0018 a0001c0001t0001g0059 a0001c0001t0001g0131 others(5): Show a0001c0001t0001g0018 a0001c0001t0001g0059 a0001c0001t0001g0131 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0013g0148 a0001c0001t0029g0179	8	268	0.0299	6	c.301 others(25): Show c.301-66887_301-66882dupGTGTGT	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar

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