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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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
CRTAM_chr11_122833500_122877643	122863329	GAAAGAAA others(15): Show GAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	428	0.0023	-22	c.733 others(37): Show c.733+805_733+826delGAAAAAGAAAGAAAGAAAGAAA	CRTAM	ENSG00000109943.9	transcript	ENST00000227348.9	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
CRTC1_chr19_18678680_18787333	18684488	CTCTTGGA others(15): Show CTCTTGGACAGCTGAGGGAATGG	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	274	0.0037	-22	c.126 others(37): Show c.126+663_126+684delTTGGACAGCTGAGGGAATGGTC	CRTC1	ENSG00000105662.16	transcript	ENST00000321949.13	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
CRTC1_chr19_18678680_18787333	18706182	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0139 a0001c0001t0019g0139	1	274	0.0037	-22	c.126 others(41): Show c.126+22374_126+22395delTTTTTTTTTTTTTTTTTTTTTT	CRTC1	ENSG00000105662.16	transcript	ENST00000321949.13	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
CRY1_chr12_106986364_107098549	107009581	TATATATA others(15): Show TATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0155 a0001c0001t0004g0155	1	320	0.0031	-22	c.268 others(39): Show c.268-4355_268-4334delTTATATATATATATATATATAT	CRY1	ENSG00000008405.12	transcript	ENST00000008527.10	protein_coding	2/12			chr12	TogoVar
CRYBA4_chr22_26616963_26635669	26627404	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02109.hp2 others(10): Show HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02717.hp2 HG03710.hp2 HG04199.hp1 NA18969.hp1 NA18983.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0039 a0001c0001t0001g0132 others(6): Show a0001c0001t0001g0005 a0001c0001t0001g0039 a0001c0001t0001g0132 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0178	13	402	0.0323	-22	c.301 others(37): Show c.301-863_301-842delTTTTTCTTTCTTTCTTTCTTTC	CRYBA4	ENSG00000196431.4	transcript	ENST00000354760.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRYBB2_chr22_25214639_25236869	25218728	GAGAGAGG others(15): Show GAGAGAGGGGAGAGAGAGAGAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18998.hp2 NA19079.hp2 NA18947.hp2 NA18998.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0112 a0001c0001t0001g0001 a0001c0001t0001g0112	3	464	0.0065	-22	c.-96 others(31): Show c.-964_-943delAGAGAGGGGAGAGAGAGAGAGA	CRYBB2	ENSG00000244752.3	transcript	ENST00000398215.3	protein_coding		910		chr22	TogoVar
CRYBB2_chr22_25214639_25236869	25218732	GAGGGGAG others(15): Show GAGGGGAGAGAGAGAGAGAGAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	464	0.0022	-22	c.-96 others(31): Show c.-960_-939delAGGGGAGAGAGAGAGAGAGAGA	CRYBB2	ENSG00000244752.3	transcript	ENST00000398215.3	protein_coding		906		chr22	TogoVar
CRYBG1_chr6_106355717_106577017	106433735	ACATATAT others(15): Show ACATATATATGTATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01071.hp1 HG01169.hp2 others(25): Show HG00741.hp1 HG01071.hp1 HG01169.hp2 HG02055.hp2 HG02132.hp2 HG02145.hp1 HG02165.hp1 HG02486.hp1 HG02523.hp2 HG02622.hp1 HG02630.hp1 HG02976.hp2 HG03471.hp1 HG04184.hp1 HG04184.hp2 NA18612.hp1 NA18747.hp2 NA18946.hp2 NA18950.hp2 NA18963.hp1 NA18963.hp2 NA18990.hp2 NA19010.hp2 NA19030.hp1 NA19063.hp1 NA19080.hp1 NA20300.hp1 NA20752.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0013 a0016 a0017 a0022 a0028 a0037 a0045 a0059 a0065	a0001c0001 a0001c0024 a0002c0003 others(13): Show a0001c0001 a0001c0024 a0002c0003 a0002c0011 a0003c0002 a0004c0004 a0013c0016 a0016c0023 a0016c0039 a0017c0019 a0022c0061 a0028c0043 a0037c0059 a0045c0053 a0059c0028 a0065c0077	a0001c0001t0001 a0001c0024t0001 a0002c0003t0001 others(15): Show a0001c0001t0001 a0001c0024t0001 a0002c0003t0001 a0002c0003t0003 a0002c0011t0003 a0003c0002t0001 a0003c0002t0005 a0004c0004t0002 a0013c0016t0001 a0016c0023t0001 a0016c0039t0001 a0017c0019t0001 a0022c0061t0001 a0028c0043t0013 a0037c0059t0002 a0045c0053t0003 a0059c0028t0002 a0065c0077t0001	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0127 others(25): Show a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0127 a0001c0001t0001g0148 a0001c0001t0001g0255 a0001c0024t0001g0197 a0002c0003t0001g0123 a0002c0003t0003g0220 a0002c0011t0003g0057 a0003c0002t0001g0037 a0003c0002t0005g0005 a0003c0002t0005g0132 a0003c0002t0005g0152 a0004c0004t0002g0017 a0004c0004t0002g0114 a0004c0004t0002g0176 a0004c0004t0002g0195 a0004c0004t0002g0218 a0013c0016t0001g0174 a0016c0023t0001g0265 a0016c0039t0001g0074 a0017c0019t0001g0073 a0022c0061t0001g0096 a0028c0043t0013g0230 a0037c0059t0002g0115 a0045c0053t0003g0227 a0059c0028t0002g0091 a0065c0077t0001g0221	28	272	0.1029	-22	c.174 others(41): Show c.174-17958_174-17937delCATATATATGTATATATATATG	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21			chr6	TogoVar
CRYGC_chr2_208123137_208134828	208124495	TGCTGAGC others(15): Show TGCTGAGCTGGTGGGGCGGCGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02818.hp2 HG02976.hp2 others(3): Show HG02055.hp2 HG02818.hp2 HG02976.hp2 HG03225.hp1 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	6	444	0.0135	-22	c.36 others(33): Show c.3686_*3707delGCCGCCGCCCCACCAGCTCAGC	CRYGC	ENSG00000163254.5	transcript	ENST00000282141.4	protein_coding		3641		chr2	TogoVar
CRYGD_chr2_208116607_208129524	208124495	TGCTGAGC others(15): Show TGCTGAGCTGGTGGGGCGGCGGC	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02055.hp2 HG02818.hp2 HG02976.hp2 others(3): Show HG02055.hp2 HG02818.hp2 HG02976.hp2 HG03225.hp2 NA18522.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0017 a0001c0001t0003g0018	6	454	0.0132	-22	c.-44 others(29): Show c.-44_-23delGCCGCCGCCCCACCAGCTCAGC	CRYGD	ENSG00000118231.5	transcript	ENST00000264376.5	protein_coding	1/3	23		chr2	TogoVar
CSDC2_chr22_41556010_41581666	41572366	ACCCACCC others(15): Show ACCCACCCACCCACCCACCCACC	A A	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	288	0.0035	-22	c.176 others(37): Show c.176+227_176+248delCCACCCACCCACCCACCCACCC	CSDC2	ENSG00000172346.15	transcript	ENST00000306149.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
CSE1L_chr20_49041312_49101949	49074176	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 NA19030.hp2 HG01361.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0328 a0001c0002t0001g0329 a0001c0002t0001g0328 a0001c0002t0001g0329	2	386	0.0052	-22	c.106 others(39): Show c.1067-588_1067-567delGTGTGTGTGTGTGTGTGTGTGT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	10/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
CSF1R_chr5_150048295_150091554	150083349	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02965.hp2 HG03041.hp1 others(5): Show HG00735.hp1 HG02965.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03579.hp2 NA19240.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0003 a0002c0008 others(1): Show a0001c0001 a0002c0003 a0002c0008 a0006c0011	a0001c0001t0009 a0002c0003t0005 a0002c0008t0001 others(1): Show a0001c0001t0009 a0002c0003t0005 a0002c0008t0001 a0006c0011t0006	a0001c0001t0009g0229 a0001c0001t0009g0231 a0001c0001t0009g0232 others(5): Show a0001c0001t0009g0229 a0001c0001t0009g0231 a0001c0001t0009g0232 a0001c0001t0009g0233 a0001c0001t0009g0234 a0002c0003t0005g0230 a0002c0008t0001g0365 a0006c0011t0006g0228	8	406	0.0197	-22	c.50- others(37): Show c.50-2347_50-2326delGTGTGTGTGTGTGTGTGTGTGT	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF2RA_chrX_1263814_1314935	1301538	TCAAACCG others(15): Show TCAAACCGTCACCATTCCGGCTC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	159	0.0063	-22	c.946 others(37): Show c.946+914_946+935delAAACCGTCACCATTCCGGCTCC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSGALNACT1_chr8_19399161_19762277	19428825	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0096 a0001c0002t0023g0096	1	238	0.0042	-22	c.954 others(39): Show c.954-8329_954-8308delCACACACACACACACACACACA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	5/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19488370	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG06807.hp1 HG02976.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0005 a0001c0001t0005 a0001c0002t0005	a0001c0001t0005g0187 a0001c0002t0005g0073 a0001c0001t0005g0187 a0001c0002t0005g0073	2	238	0.0084	-22	c.634 others(41): Show c.634+16809_634+16830delATATATATATATATATATATAT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19514475	CTATATAT others(15): Show CTATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0096 a0001c0002t0023g0096	1	238	0.0042	-22	c.-29 others(41): Show c.-296-8367_-296-8346delTATATATATATATATATATATA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19599482	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0052 a0002c0003t0005g0052	1	238	0.0042	-22	c.-29 others(41): Show c.-297+2267_-297+2288delCTTTCTTTCTTTCTTTCTTTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19603047	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	238	0.0042	-22	c.-39 others(41): Show c.-391-1204_-391-1183delGTGTGTGTGTGTGTGTGTGTGT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19630194	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02965.hp1 HG03225.hp1 HG02572.hp1 HG02965.hp1 HG03225.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0006 a0003c0005t0027 a0001c0002t0006 a0003c0005t0027	a0001c0002t0006g0017 a0001c0002t0006g0047 a0003c0005t0027g0229 a0001c0002t0006g0017 a0001c0002t0006g0047 a0003c0005t0027g0229	3	238	0.0126	-22	c.-39 others(43): Show c.-391-28351_-391-28330delCACACACACACACACACACACA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19630222	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0046 a0002c0003t0046	a0002c0003t0046g0081 a0002c0003t0046g0081	1	238	0.0042	-22	c.-39 others(43): Show c.-391-28379_-391-28358delTACACACACACACACACACACA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666789	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02615.hp1 HG01261.hp2 HG02615.hp1	a0003 a0013 a0003 a0013	a0003c0005 a0013c0014 a0003c0005 a0013c0014	a0003c0005t0004 a0013c0014t0006 a0003c0005t0004 a0013c0014t0006	a0003c0005t0004g0157 a0013c0014t0006g0230 a0003c0005t0004g0157 a0013c0014t0006g0230	2	238	0.0084	-22	c.-39 others(43): Show c.-391-64946_-391-64925delCTTTCTTTCTTTCTTTCTTTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666793	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01074.hp2 HG01257.hp1 others(6): Show HG00140.hp1 HG01074.hp2 HG01257.hp1 HG02004.hp1 HG02015.hp1 HG02155.hp1 NA18942.hp1 NA18993.hp2 NA20905.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0002c0008 others(1): Show a0001c0001 a0001c0002 a0002c0008 a0007c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0002 a0002c0008t0003 a0007c0015t0002	a0001c0001t0001g0021 a0001c0001t0001g0062 a0001c0001t0001g0193 others(6): Show a0001c0001t0001g0021 a0001c0001t0001g0062 a0001c0001t0001g0193 a0001c0001t0002g0209 a0001c0001t0006g0028 a0001c0002t0002g0027 a0001c0002t0002g0234 a0002c0008t0003g0140 a0007c0015t0002g0060	9	238	0.0378	-22	c.-39 others(43): Show c.-391-64950_-391-64929delCTCTCTTTCTTTCTTTCTTTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666829	GAGAGAAA others(15): Show GAGAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	238	0.0042	-22	c.-39 others(43): Show c.-391-64986_-391-64965delTTCTTTCTTTCTTTCTTTCTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666971	GAAAGAAA others(15): Show GAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0009 a0011c0019t0009	a0011c0019t0009g0055 a0011c0019t0009g0055	1	238	0.0042	-22	c.-39 others(43): Show c.-391-65128_-391-65107delTTCTTTCTTTCTTTCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3182578	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0037 a0002c0037	a0002c0037t0009 a0002c0037t0009	a0002c0037t0009g0046 a0002c0037t0009g0046	1	126	0.0079	-22	c.562 others(41): Show c.5621-1386_5621-1365delCACACACACACACACACACACA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3182893	TGTGTATT others(15): Show TGTGTATTGTTAGTAGAGAAGGG	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0016 a0001c0020t0016	a0001c0020t0016g0065 a0001c0020t0016g0065	1	126	0.0079	-22	c.562 others(41): Show c.5621-1701_5621-1680delCCCTTCTCTACTAACAATACAC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3262184	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01123.hp2 HG01255.hp2 others(2): Show HG01074.hp1 HG01123.hp2 HG01255.hp2 HG02451.hp1 NA19074.hp1	a0001 a0002 a0032 a0001 a0002 a0032	a0001c0003 a0001c0049 a0002c0051 others(2): Show a0001c0003 a0001c0049 a0002c0051 a0002c0076 a0032c0011	a0001c0003t0008 a0001c0049t0002 a0002c0051t0006 others(2): Show a0001c0003t0008 a0001c0049t0002 a0002c0051t0006 a0002c0076t0035 a0032c0011t0065	a0001c0003t0008g0053 a0001c0049t0002g0071 a0002c0051t0006g0081 others(2): Show a0001c0003t0008g0053 a0001c0049t0002g0071 a0002c0051t0006g0081 a0002c0076t0035g0014 a0032c0011t0065g0101	5	126	0.0397	-22	c.415 others(43): Show c.4153+21938_4153+21959delATATATATATATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	26/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3385117	TATAATAT others(15): Show TATAATATATAAATATATAATAC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0010 a0010	a0010c0112 a0010c0112	a0010c0112t0081 a0010c0112t0081	a0010c0112t0081g0090 a0010c0112t0081g0090	1	126	0.0079	-22	c.278 others(41): Show c.2782+2355_2782+2376delGTATTATATATTTATATATTAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	18/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3695384	CCTGTATG others(15): Show CCTGTATGCTAAAACTCACTTTT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02886.hp2 HG03516.hp2 HG02615.hp1 HG02886.hp2 HG03516.hp2	a0002 a0017 a0026 a0002 a0017 a0026	a0002c0078 a0017c0106 a0026c0082 a0002c0078 a0017c0106 a0026c0082	a0002c0078t0044 a0017c0106t0012 a0026c0082t0052 a0002c0078t0044 a0017c0106t0012 a0026c0082t0052	a0002c0078t0044g0064 a0017c0106t0012g0042 a0026c0082t0052g0097 a0002c0078t0044g0064 a0017c0106t0012g0042 a0026c0082t0052g0097	3	126	0.0238	-22	c.100 others(43): Show c.1009+13008_1009+13029delAAAAGTGAGTTTTAGCATACAG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3729940	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00735.hp2 HG01081.hp1 others(26): Show HG00423.hp1 HG00735.hp2 HG01081.hp1 HG01123.hp1 HG01261.hp2 HG01934.hp1 HG02055.hp2 HG02056.hp2 HG02129.hp2 HG02451.hp1 HG02486.hp1 HG02622.hp1 HG02723.hp2 HG02886.hp2 HG03195.hp1 HG03209.hp2 HG03579.hp2 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18971.hp2 NA18995.hp1 NA19074.hp1 NA20129.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0008 a0016 a0019 a0020 a0022 a0023 a0025 a0027 a0037	a0001c0001 a0001c0003 a0001c0006 others(25): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0068 a0001c0071 a0001c0073 a0001c0109 a0001c0111 a0002c0012 a0002c0030 a0002c0051 a0002c0054 a0002c0060 a0002c0076 a0002c0078 a0003c0057 a0004c0087 a0005c0065 a0008c0008 a0016c0063 a0019c0018 a0020c0024 a0022c0013 a0023c0095 a0025c0096 a0027c0023 a0037c0101	a0001c0001t0002 a0001c0003t0019 a0001c0006t0002 others(26): Show a0001c0001t0002 a0001c0003t0019 a0001c0006t0002 a0001c0006t0060 a0001c0007t0032 a0001c0068t0015 a0001c0071t0069 a0001c0073t0007 a0001c0109t0038 a0001c0111t0045 a0002c0012t0017 a0002c0030t0016 a0002c0051t0006 a0002c0054t0079 a0002c0060t0006 a0002c0076t0035 a0002c0078t0044 a0003c0057t0080 a0004c0087t0001 a0005c0065t0023 a0008c0008t0082 a0016c0063t0010 a0019c0018t0058 a0020c0024t0077 a0022c0013t0007 a0023c0095t0002 a0025c0096t0067 a0027c0023t0001 a0037c0101t0008	a0001c0001t0002g0102 a0001c0003t0019g0107 a0001c0006t0002g0109 others(26): Show a0001c0001t0002g0102 a0001c0003t0019g0107 a0001c0006t0002g0109 a0001c0006t0060g0103 a0001c0007t0032g0033 a0001c0068t0015g0049 a0001c0071t0069g0115 a0001c0073t0007g0108 a0001c0109t0038g0013 a0001c0111t0045g0063 a0002c0012t0017g0088 a0002c0030t0016g0122 a0002c0051t0006g0081 a0002c0054t0079g0096 a0002c0060t0006g0094 a0002c0076t0035g0014 a0002c0078t0044g0064 a0003c0057t0080g0075 a0004c0087t0001g0022 a0005c0065t0023g0050 a0008c0008t0082g0126 a0016c0063t0010g0045 a0019c0018t0058g0068 a0020c0024t0077g0104 a0022c0013t0007g0112 a0023c0095t0002g0124 a0025c0096t0067g0116 a0027c0023t0001g0052 a0037c0101t0008g0023	29	126	0.2302	-22	c.932 others(41): Show c.932-21471_932-21450delGTTTTTTTTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	6/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3817252	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0004 a0004	a0004c0056 a0004c0056	a0004c0056t0062 a0004c0056t0062	a0004c0056t0062g0072 a0004c0056t0062g0072	1	126	0.0079	-22	c.819 others(41): Show c.819-63232_819-63211delAAAAAAAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3889472	TATATATA others(15): Show TATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02572.hp2 HG02723.hp1 others(1): Show HG02451.hp1 HG02572.hp2 HG02723.hp1 HG02886.hp2	a0002 a0007 a0024 a0002 a0007 a0024	a0002c0051 a0002c0078 a0007c0029 others(1): Show a0002c0051 a0002c0078 a0007c0029 a0024c0038	a0002c0051t0006 a0002c0078t0044 a0007c0029t0011 others(1): Show a0002c0051t0006 a0002c0078t0044 a0007c0029t0011 a0024c0038t0075	a0002c0051t0006g0081 a0002c0078t0044g0064 a0007c0029t0011g0054 others(1): Show a0002c0051t0006g0081 a0002c0078t0044g0064 a0007c0029t0011g0054 a0024c0038t0075g0067	4	126	0.0318	-22	c.818 others(43): Show c.818+108409_818+108430delTTATATATATATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3926082	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0078 a0002c0078	a0002c0078t0044 a0002c0078t0044	a0002c0078t0044g0064 a0002c0078t0044g0064	1	126	0.0079	-22	c.818 others(41): Show c.818+71799_818+71820delGTGTGTGTGTGTGTGTGTGTGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3984704	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp1 HG01074.hp1 others(25): Show HG00099.hp1 HG00735.hp1 HG01074.hp1 HG01243.hp1 HG01261.hp2 HG01934.hp1 HG02129.hp1 HG02129.hp2 HG02258.hp1 HG02486.hp1 HG02572.hp1 HG02965.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03669.hp2 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19240.hp1 NA20129.hp1	a0001 a0002 a0005 others(12): Show a0001 a0002 a0005 a0012 a0014 a0016 a0018 a0021 a0027 a0028 a0030 a0032 a0033 a0034 a0037	a0001c0001 a0001c0003 a0001c0007 others(24): Show a0001c0001 a0001c0003 a0001c0007 a0001c0025 a0001c0050 a0001c0085 a0001c0093 a0001c0103 a0001c0114 a0002c0032 a0002c0054 a0002c0060 a0002c0072 a0002c0074 a0005c0064 a0012c0104 a0014c0010 a0016c0063 a0018c0044 a0021c0016 a0027c0023 a0028c0097 a0030c0052 a0032c0011 a0033c0042 a0034c0055 a0037c0101	a0001c0001t0039 a0001c0003t0019 a0001c0007t0001 others(25): Show a0001c0001t0039 a0001c0003t0019 a0001c0007t0001 a0001c0007t0032 a0001c0025t0003 a0001c0050t0053 a0001c0085t0020 a0001c0093t0009 a0001c0103t0033 a0001c0114t0003 a0002c0032t0050 a0002c0054t0079 a0002c0060t0006 a0002c0072t0003 a0002c0074t0041 a0005c0064t0051 a0012c0104t0071 a0014c0010t0070 a0016c0063t0010 a0018c0044t0064 a0021c0016t0048 a0027c0023t0001 a0028c0097t0018 a0030c0052t0049 a0032c0011t0065 a0033c0042t0004 a0034c0055t0034 a0037c0101t0008	a0001c0001t0039g0017 a0001c0003t0019g0107 a0001c0007t0001g0035 others(25): Show a0001c0001t0039g0017 a0001c0003t0019g0107 a0001c0007t0001g0035 a0001c0007t0032g0033 a0001c0025t0003g0077 a0001c0050t0053g0120 a0001c0085t0020g0060 a0001c0093t0009g0007 a0001c0103t0033g0028 a0001c0114t0003g0119 a0002c0032t0050g0061 a0002c0054t0079g0096 a0002c0060t0006g0094 a0002c0072t0003g0066 a0002c0074t0041g0031 a0005c0064t0051g0078 a0012c0104t0071g0058 a0014c0010t0070g0084 a0016c0063t0010g0045 a0018c0044t0064g0085 a0021c0016t0048g0106 a0027c0023t0001g0052 a0028c0097t0018g0089 a0030c0052t0049g0098 a0032c0011t0065g0101 a0033c0042t0004g0004 a0034c0055t0034g0047 a0037c0101t0008g0023	28	126	0.2222	-22	c.818 others(41): Show c.818+13177_818+13198delATATATATATATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4138044	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02922.hp2 HG02056.hp2 HG02922.hp2	a0001 a0031 a0001 a0031	a0001c0071 a0031c0069 a0001c0071 a0031c0069	a0001c0071t0069 a0031c0069t0043 a0001c0071t0069 a0031c0069t0043	a0001c0071t0069g0115 a0031c0069t0043g0100 a0001c0071t0069g0115 a0031c0069t0043g0100	2	126	0.0159	-22	c.416 others(43): Show c.416-105967_416-105946delAAAAAAAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4295049	TACACATA others(15): Show TACACATATAATCTTAAGATTAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp2 HG01074.hp1 others(19): Show HG00099.hp2 HG00735.hp2 HG01074.hp1 HG01081.hp1 HG01123.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG02055.hp2 HG02074.hp1 HG02258.hp1 HG02280.hp1 HG02615.hp2 HG02965.hp2 HG03139.hp1 HG03209.hp1 HG03710.hp2 HG04228.hp2 NA18982.hp1 NA18984.hp1 NA19060.hp1 NA19074.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0019 a0022 a0032 a0035 a0038	a0001c0003 a0001c0004 a0001c0005 others(19): Show a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0020 a0001c0049 a0001c0059 a0001c0073 a0001c0079 a0001c0090 a0001c0114 a0002c0012 a0002c0031 a0002c0053 a0002c0074 a0003c0057 a0004c0086 a0019c0018 a0022c0013 a0032c0011 a0035c0098 a0038c0066	a0001c0003t0008 a0001c0004t0063 a0001c0005t0007 others(19): Show a0001c0003t0008 a0001c0004t0063 a0001c0005t0007 a0001c0007t0001 a0001c0020t0016 a0001c0049t0002 a0001c0059t0001 a0001c0073t0007 a0001c0079t0072 a0001c0090t0001 a0001c0114t0003 a0002c0012t0017 a0002c0031t0015 a0002c0053t0022 a0002c0074t0041 a0003c0057t0080 a0004c0086t0002 a0019c0018t0058 a0022c0013t0007 a0032c0011t0065 a0035c0098t0025 a0038c0066t0010	a0001c0003t0008g0053 a0001c0004t0063g0095 a0001c0005t0007g0070 others(19): Show a0001c0003t0008g0053 a0001c0004t0063g0095 a0001c0005t0007g0070 a0001c0007t0001g0035 a0001c0020t0016g0065 a0001c0049t0002g0071 a0001c0059t0001g0036 a0001c0073t0007g0108 a0001c0079t0072g0113 a0001c0090t0001g0027 a0001c0114t0003g0119 a0002c0012t0017g0088 a0002c0031t0015g0001 a0002c0053t0022g0041 a0002c0074t0041g0031 a0003c0057t0080g0075 a0004c0086t0002g0118 a0019c0018t0058g0068 a0022c0013t0007g0112 a0032c0011t0065g0101 a0035c0098t0025g0019 a0038c0066t0010g0032	22	126	0.1746	-22	c.415 others(43): Show c.415+124882_415+124903delGTAATCTTAAGATTATATGTGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4332552	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02257.hp1 HG02451.hp2 others(4): Show HG01934.hp1 HG02257.hp1 HG02451.hp2 HG02723.hp1 HG03139.hp1 HG03579.hp1 HG03834.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0006 a0007 a0024 a0029	a0001c0003 a0002c0074 a0004c0087 others(4): Show a0001c0003 a0002c0074 a0004c0087 a0006c0116 a0007c0088 a0024c0038 a0029c0028	a0001c0003t0019 a0002c0074t0041 a0004c0087t0001 others(4): Show a0001c0003t0019 a0002c0074t0041 a0004c0087t0001 a0006c0116t0004 a0007c0088t0076 a0024c0038t0075 a0029c0028t0024	a0001c0003t0019g0107 a0002c0074t0041g0031 a0004c0087t0001g0022 others(4): Show a0001c0003t0019g0107 a0002c0074t0041g0031 a0004c0087t0001g0022 a0006c0116t0004g0039 a0007c0088t0076g0057 a0024c0038t0075g0067 a0029c0028t0024g0040	7	126	0.0556	-22	c.415 others(41): Show c.415+87379_415+87400delGTGTGTGTGTGTGTGTGTGTGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4486122	CATATATA others(15): Show CATATATATATATATACATACAT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02647.hp2 HG02886.hp2 HG02559.hp2 HG02647.hp2 HG02886.hp2	a0001 a0002 a0001 a0002	a0001c0043 a0002c0078 a0002c0084 a0001c0043 a0002c0078 a0002c0084	a0001c0043t0031 a0002c0078t0044 a0002c0084t0018 a0001c0043t0031 a0002c0078t0044 a0002c0084t0018	a0001c0043t0031g0044 a0002c0078t0044g0064 a0002c0084t0018g0087 a0001c0043t0031g0044 a0002c0078t0044g0064 a0002c0084t0018g0087	3	126	0.0238	-22	c.303 others(41): Show c.303-66079_303-66058delATGTATGTATATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4486182	TATATATA others(15): Show TATATATATATATATATACATAC	T T	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02559.hp1 HG03139.hp1 others(1): Show HG02074.hp1 HG02559.hp1 HG03139.hp1 NA18984.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0059 a0001c0079 others(1): Show a0001c0004 a0001c0059 a0001c0079 a0002c0074	a0001c0004t0020 a0001c0059t0001 a0001c0079t0072 others(1): Show a0001c0004t0020 a0001c0059t0001 a0001c0079t0072 a0002c0074t0041	a0001c0004t0020g0086 a0001c0059t0001g0036 a0001c0079t0072g0113 others(1): Show a0001c0004t0020g0086 a0001c0059t0001g0036 a0001c0079t0072g0113 a0002c0074t0041g0031	4	126	0.0318	-22	c.303 others(41): Show c.303-66139_303-66118delGTATGTATATATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4486228	TACATATA others(15): Show TACATATATATATATATACATAC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0018 a0018	a0018c0044 a0018c0044	a0018c0044t0064 a0018c0044t0064	a0018c0044t0064g0085 a0018c0044t0064g0085	1	126	0.0079	-22	c.303 others(41): Show c.303-66185_303-66164delGTATGTATATATATATATATGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4486230	CATATATA others(15): Show CATATATATATATATACATACAT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0054 a0002c0054	a0002c0054t0079 a0002c0054t0079	a0002c0054t0079g0096 a0002c0054t0079g0096	1	126	0.0079	-22	c.303 others(41): Show c.303-66187_303-66166delATGTATGTATATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4565749	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0060 a0002c0060	a0002c0060t0006 a0002c0060t0006	a0002c0060t0006g0094 a0002c0060t0006g0094	1	126	0.0079	-22	c.302 others(41): Show c.302+71571_302+71592delATATATATATATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4630265	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG01071.hp1 others(40): Show HG00099.hp2 HG00423.hp1 HG01071.hp1 HG01071.hp2 HG01123.hp2 HG01243.hp2 HG01255.hp1 HG01261.hp1 HG01934.hp2 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02615.hp1 HG02647.hp2 HG02683.hp2 HG03017.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03834.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18971.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18995.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0009 a0014 a0017 a0018 a0023 a0025 a0026 a0035 a0037 a0039	a0001c0001 a0001c0002 a0001c0003 others(40): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0033 a0001c0045 a0001c0047 a0001c0050 a0001c0059 a0001c0061 a0001c0079 a0001c0085 a0001c0093 a0001c0102 a0001c0108 a0001c0114 a0001c0115 a0002c0031 a0002c0035 a0002c0037 a0002c0041 a0002c0048 a0002c0051 a0002c0054 a0002c0072 a0002c0075 a0002c0084 a0002c0091 a0003c0057 a0004c0086 a0004c0087 a0004c0099 a0009c0113 a0014c0010 a0017c0106 a0018c0044 a0023c0095 a0025c0096 a0026c0082 a0035c0098 a0037c0101 a0039c0009	a0001c0001t0002 a0001c0002t0061 a0001c0003t0008 others(40): Show a0001c0001t0002 a0001c0002t0061 a0001c0003t0008 a0001c0005t0007 a0001c0006t0002 a0001c0033t0003 a0001c0045t0012 a0001c0047t0014 a0001c0050t0053 a0001c0059t0001 a0001c0061t0001 a0001c0079t0072 a0001c0085t0020 a0001c0093t0009 a0001c0102t0005 a0001c0108t0054 a0001c0114t0003 a0001c0115t0042 a0002c0031t0015 a0002c0035t0047 a0002c0037t0009 a0002c0041t0027 a0002c0048t0013 a0002c0051t0006 a0002c0054t0079 a0002c0072t0003 a0002c0075t0026 a0002c0084t0018 a0002c0091t0002 a0003c0057t0080 a0004c0086t0002 a0004c0087t0001 a0004c0099t0014 a0009c0113t0011 a0014c0010t0070 a0017c0106t0012 a0018c0044t0064 a0023c0095t0002 a0025c0096t0067 a0026c0082t0052 a0035c0098t0025 a0037c0101t0008 a0039c0009t0001	a0001c0001t0002g0125 a0001c0002t0061g0069 a0001c0003t0008g0053 others(40): Show a0001c0001t0002g0125 a0001c0002t0061g0069 a0001c0003t0008g0053 a0001c0005t0007g0070 a0001c0006t0002g0109 a0001c0033t0003g0059 a0001c0045t0012g0010 a0001c0047t0014g0024 a0001c0050t0053g0120 a0001c0059t0001g0036 a0001c0061t0001g0021 a0001c0079t0072g0113 a0001c0085t0020g0060 a0001c0093t0009g0007 a0001c0102t0005g0034 a0001c0108t0054g0074 a0001c0114t0003g0119 a0001c0115t0042g0055 a0002c0031t0015g0001 a0002c0035t0047g0076 a0002c0037t0009g0046 a0002c0041t0027g0018 a0002c0048t0013g0015 a0002c0051t0006g0081 a0002c0054t0079g0096 a0002c0072t0003g0066 a0002c0075t0026g0051 a0002c0084t0018g0087 a0002c0091t0002g0114 a0003c0057t0080g0075 a0004c0086t0002g0118 a0004c0087t0001g0022 a0004c0099t0014g0020 a0009c0113t0011g0043 a0014c0010t0070g0084 a0017c0106t0012g0042 a0018c0044t0064g0085 a0023c0095t0002g0124 a0025c0096t0067g0116 a0026c0082t0052g0097 a0035c0098t0025g0019 a0037c0101t0008g0023 a0039c0009t0001g0002	43	126	0.3413	-22	c.302 others(39): Show c.302+7055_302+7076delGTGTGTGTGTGTGTGTGTGTGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4637644	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01071.hp2 HG01081.hp1 others(28): Show HG00099.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01261.hp1 HG02055.hp2 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02647.hp2 HG02683.hp2 HG03017.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03516.hp2 HG03540.hp2 HG06807.hp1 NA18979.hp1 NA18979.hp2 NA18995.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0005 a0007 a0009 a0017 a0019 a0026 a0029 a0037 a0039	a0001c0002 a0001c0004 a0001c0005 others(28): Show a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0020 a0001c0033 a0001c0043 a0001c0045 a0001c0047 a0001c0050 a0001c0080 a0001c0085 a0001c0093 a0001c0108 a0001c0115 a0002c0035 a0002c0036 a0002c0037 a0002c0051 a0002c0054 a0002c0084 a0003c0057 a0005c0107 a0007c0029 a0009c0113 a0017c0106 a0019c0018 a0026c0082 a0029c0028 a0037c0101 a0039c0009	a0001c0002t0061 a0001c0004t0020 a0001c0005t0007 others(28): Show a0001c0002t0061 a0001c0004t0020 a0001c0005t0007 a0001c0007t0001 a0001c0020t0016 a0001c0033t0003 a0001c0043t0031 a0001c0045t0012 a0001c0047t0014 a0001c0050t0053 a0001c0080t0040 a0001c0085t0020 a0001c0093t0009 a0001c0108t0054 a0001c0115t0042 a0002c0035t0047 a0002c0036t0029 a0002c0037t0009 a0002c0051t0006 a0002c0054t0079 a0002c0084t0018 a0003c0057t0080 a0005c0107t0068 a0007c0029t0011 a0009c0113t0011 a0017c0106t0012 a0019c0018t0058 a0026c0082t0052 a0029c0028t0024 a0037c0101t0008 a0039c0009t0001	a0001c0002t0061g0069 a0001c0004t0020g0086 a0001c0005t0007g0070 others(28): Show a0001c0002t0061g0069 a0001c0004t0020g0086 a0001c0005t0007g0070 a0001c0007t0001g0035 a0001c0020t0016g0065 a0001c0033t0003g0059 a0001c0043t0031g0044 a0001c0045t0012g0010 a0001c0047t0014g0024 a0001c0050t0053g0120 a0001c0080t0040g0025 a0001c0085t0020g0060 a0001c0093t0009g0007 a0001c0108t0054g0074 a0001c0115t0042g0055 a0002c0035t0047g0076 a0002c0036t0029g0009 a0002c0037t0009g0046 a0002c0051t0006g0081 a0002c0054t0079g0096 a0002c0084t0018g0087 a0003c0057t0080g0075 a0005c0107t0068g0073 a0007c0029t0011g0054 a0009c0113t0011g0043 a0017c0106t0012g0042 a0019c0018t0058g0068 a0026c0082t0052g0097 a0029c0028t0024g0040 a0037c0101t0008g0023 a0039c0009t0001g0002	31	126	0.2460	-22	c.86- others(34): Show c.86-108_86-87delAAAAAAAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4707886	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00735.hp2 others(48): Show HG00099.hp2 HG00423.hp1 HG00735.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01123.hp1 HG01123.hp2 HG01243.hp2 HG01255.hp1 HG01884.hp1 HG01884.hp2 HG02056.hp1 HG02129.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02647.hp2 HG02683.hp2 HG02723.hp2 HG02886.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03579.hp2 HG03669.hp2 HG03710.hp2 HG06807.hp1 NA18522.hp1 NA18971.hp2 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18995.hp1 NA19030.hp2 NA19043.hp2 NA19060.hp2 NA19074.hp1 NA19074.hp2 NA19090.hp1 NA19240.hp2 NA20129.hp2	a0001 a0002 a0005 others(11): Show a0001 a0002 a0005 a0007 a0008 a0012 a0020 a0022 a0023 a0025 a0027 a0029 a0032 a0035	a0001c0001 a0001c0002 a0001c0003 others(44): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0020 a0001c0026 a0001c0039 a0001c0045 a0001c0046 a0001c0047 a0001c0050 a0001c0059 a0001c0061 a0001c0073 a0001c0080 a0001c0090 a0001c0102 a0001c0103 a0001c0109 a0001c0111 a0001c0114 a0001c0115 a0002c0022 a0002c0031 a0002c0035 a0002c0037 a0002c0041 a0002c0048 a0002c0051 a0002c0070 a0002c0075 a0002c0076 a0002c0084 a0005c0065 a0007c0029 a0007c0088 a0008c0008 a0012c0104 a0020c0024 a0022c0013 a0023c0095 a0025c0096 a0027c0023 a0029c0028 a0032c0011 a0035c0098	a0001c0001t0039 a0001c0002t0002 a0001c0002t0028 others(48): Show a0001c0001t0039 a0001c0002t0002 a0001c0002t0028 a0001c0002t0061 a0001c0003t0008 a0001c0004t0020 a0001c0004t0063 a0001c0005t0002 a0001c0005t0007 a0001c0020t0016 a0001c0026t0006 a0001c0039t0066 a0001c0045t0012 a0001c0046t0073 a0001c0047t0014 a0001c0050t0053 a0001c0059t0001 a0001c0061t0001 a0001c0073t0007 a0001c0080t0040 a0001c0090t0001 a0001c0102t0005 a0001c0103t0033 a0001c0109t0038 a0001c0111t0045 a0001c0114t0003 a0001c0115t0042 a0002c0022t0036 a0002c0031t0015 a0002c0035t0047 a0002c0037t0009 a0002c0041t0027 a0002c0048t0013 a0002c0051t0006 a0002c0070t0046 a0002c0075t0026 a0002c0076t0035 a0002c0084t0018 a0005c0065t0023 a0007c0029t0011 a0007c0088t0076 a0008c0008t0082 a0012c0104t0071 a0020c0024t0077 a0022c0013t0007 a0023c0095t0002 a0025c0096t0067 a0027c0023t0001 a0029c0028t0024 a0032c0011t0065 a0035c0098t0025	a0001c0001t0039g0017 a0001c0002t0002g0083 a0001c0002t0028g0005 others(48): Show a0001c0001t0039g0017 a0001c0002t0002g0083 a0001c0002t0028g0005 a0001c0002t0061g0069 a0001c0003t0008g0053 a0001c0004t0020g0086 a0001c0004t0063g0095 a0001c0005t0002g0111 a0001c0005t0007g0070 a0001c0020t0016g0065 a0001c0026t0006g0093 a0001c0039t0066g0080 a0001c0045t0012g0010 a0001c0046t0073g0091 a0001c0047t0014g0024 a0001c0050t0053g0120 a0001c0059t0001g0036 a0001c0061t0001g0021 a0001c0073t0007g0108 a0001c0080t0040g0025 a0001c0090t0001g0027 a0001c0102t0005g0034 a0001c0103t0033g0028 a0001c0109t0038g0013 a0001c0111t0045g0063 a0001c0114t0003g0119 a0001c0115t0042g0055 a0002c0022t0036g0048 a0002c0031t0015g0001 a0002c0035t0047g0076 a0002c0037t0009g0046 a0002c0041t0027g0018 a0002c0048t0013g0015 a0002c0051t0006g0081 a0002c0070t0046g0092 a0002c0075t0026g0051 a0002c0076t0035g0014 a0002c0084t0018g0087 a0005c0065t0023g0050 a0007c0029t0011g0054 a0007c0088t0076g0057 a0008c0008t0082g0126 a0012c0104t0071g0058 a0020c0024t0077g0104 a0022c0013t0007g0112 a0023c0095t0002g0124 a0025c0096t0067g0116 a0027c0023t0001g0052 a0029c0028t0024g0040 a0032c0011t0065g0101 a0035c0098t0025g0019	51	126	0.4048	-22	c.86- others(39): Show c.86-70350_86-70329delTTTTTTTTTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4742000	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01081.hp2 HG02486.hp2 others(1): Show HG01074.hp2 HG01081.hp2 HG02486.hp2 HG02559.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0043 a0002c0070 a0004c0056 others(1): Show a0001c0043 a0002c0070 a0004c0056 a0005c0107	a0001c0043t0031 a0002c0070t0046 a0004c0056t0062 others(1): Show a0001c0043t0031 a0002c0070t0046 a0004c0056t0062 a0005c0107t0068	a0001c0043t0031g0044 a0002c0070t0046g0092 a0004c0056t0062g0072 others(1): Show a0001c0043t0031g0044 a0002c0070t0046g0092 a0004c0056t0062g0072 a0005c0107t0068g0073	4	126	0.0318	-22	c.86- others(41): Show c.86-104464_86-104443delAAAAAAAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD2_chr1_33508998_34170230	33707693	GCGCACAC others(15): Show GCGCACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01109.hp1 HG02055.hp1 others(3): Show HG01069.hp1 HG01109.hp1 HG02055.hp1 HG02922.hp2 HG03209.hp1 NA20300.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0022 a0030	a0001c0044 a0002c0006 a0002c0043 others(3): Show a0001c0044 a0002c0006 a0002c0043 a0004c0032 a0022c0019 a0030c0008	a0001c0044t0002 a0002c0006t0004 a0002c0043t0003 others(3): Show a0001c0044t0002 a0002c0006t0004 a0002c0043t0003 a0004c0032t0001 a0022c0019t0011 a0030c0008t0004	a0001c0044t0002g0026 a0002c0006t0004g0052 a0002c0043t0003g0061 others(3): Show a0001c0044t0002g0026 a0002c0006t0004g0052 a0002c0043t0003g0061 a0004c0032t0001g0022 a0022c0019t0011g0017 a0030c0008t0004g0001	6	66	0.0909	-22	c.357 others(41): Show c.3576+1374_3576+1395delTGTGTGTGTGTGTGTGTGTGCG	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	22/70			chr1	TogoVar
CSMD3_chr8_112217928_113441939	112361572	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03041.hp1 HG01261.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0016 a0001c0001t0007g0041 a0001c0001t0001g0016 a0001c0001t0007g0041	2	80	0.0250	-22	c.613 others(41): Show c.6137-9060_6137-9039delATATATATATATATATATATAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	38/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112405226	TATATATA others(15): Show TATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0003 a0009c0018t0003	a0009c0018t0003g0071 a0009c0018t0003g0071	1	80	0.0125	-22	c.580 others(41): Show c.5809+1276_5809+1297delGTATATATATATATATATATAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	35/70			chr8	TogoVar

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