JoGo: Joint Open Genome and Omics Platform

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
CRYBG1_chr6_106355717_106577017	106433741	ATATGTAT others(11): Show ATATGTATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02135.hp2 HG02257.hp1 others(23): Show HG01346.hp1 HG02135.hp2 HG02257.hp1 HG02273.hp1 HG02280.hp2 HG02451.hp1 HG02622.hp2 HG02717.hp1 HG02723.hp1 HG02886.hp2 HG02895.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp2 HG03704.hp2 HG03927.hp2 HG04115.hp2 NA18906.hp2 NA18969.hp2 NA18973.hp1 NA19001.hp1 NA19043.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0012 a0013 a0016 a0017 a0027 a0056 a0057 a0058	a0001c0001 a0002c0003 a0003c0002 others(13): Show a0001c0001 a0002c0003 a0003c0002 a0004c0004 a0005c0006 a0006c0005 a0007c0007 a0009c0012 a0012c0015 a0013c0016 a0016c0023 a0017c0019 a0027c0042 a0056c0033 a0057c0034 a0058c0036	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(16): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0002c0003t0003 a0003c0002t0001 a0003c0002t0005 a0004c0004t0002 a0005c0006t0008 a0006c0005t0004 a0007c0007t0003 a0009c0012t0002 a0012c0015t0007 a0013c0016t0001 a0016c0023t0001 a0017c0019t0001 a0027c0042t0001 a0056c0033t0002 a0057c0034t0007 a0058c0036t0001	a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0001t0001g0101 others(23): Show a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0001t0001g0101 a0001c0001t0001g0184 a0001c0001t0001g0261 a0001c0001t0004g0125 a0001c0001t0005g0129 a0002c0003t0003g0094 a0003c0002t0001g0014 a0003c0002t0005g0154 a0004c0004t0002g0163 a0005c0006t0008g0185 a0006c0005t0004g0179 a0006c0005t0004g0187 a0007c0007t0003g0072 a0007c0007t0003g0210 a0007c0007t0003g0270 a0009c0012t0002g0226 a0012c0015t0007g0239 a0013c0016t0001g0264 a0016c0023t0001g0182 a0017c0019t0001g0070 a0027c0042t0001g0088 a0056c0033t0002g0248 a0057c0034t0007g0240 a0058c0036t0001g0247	26	272	0.0956	-18	c.174 others(37): Show c.174-17949_174-17932delGTATATATATATGTGTAT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG3_chr3_97817011_97949984	97910400	ACTCTGTG others(11): Show ACTCTGTGGGCGTAGGACC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02630.hp2 HG02965.hp1 others(1): Show HG02257.hp2 HG02630.hp2 HG02965.hp1 HG02970.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0014 a0003c0002t0001g0057 a0003c0002t0001g0068 a0003c0002t0001g0014 a0003c0002t0001g0057 a0003c0002t0001g0068	4	316	0.0127	-18	c.800 others(37): Show c.8005-1763_8005-1746delTGTGGGCGTAGGACCCTC	CRYBG3	ENSG00000080200.10	transcript	ENST00000389622.7	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
CRYL1_chr13_20398669_20530857	20508858	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02486.hp2 HG02809.hp2 others(5): Show HG02056.hp2 HG02486.hp2 HG02809.hp2 HG03041.hp1 HG03195.hp2 HG03471.hp1 NA19000.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0006t0001	a0001c0001t0001g0089 a0001c0001t0001g0173 a0001c0001t0002g0108 others(5): Show a0001c0001t0001g0089 a0001c0001t0001g0173 a0001c0001t0002g0108 a0001c0001t0002g0223 a0001c0002t0001g0078 a0001c0002t0001g0092 a0001c0002t0001g0135 a0001c0006t0001g0080	8	250	0.0320	-18	c.149 others(35): Show c.149+3567_149+3584delGTTTTTTTTTTTTTTTTT	CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	2/7			chr13	TogoVar
CSE1L_chr20_49041312_49101949	49084801	TAGGTTCT others(11): Show TAGGTTCTTTCCTTCATCA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02145.hp1 others(9): Show HG01891.hp1 HG02055.hp2 HG02145.hp1 HG02486.hp1 HG02630.hp2 HG02723.hp2 HG02818.hp2 HG02965.hp1 HG03471.hp1 NA18522.hp2 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0001t0001g0287 others(9): Show a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0001t0001g0287 a0001c0001t0001g0291 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0318	12	386	0.0311	-18	c.162 others(35): Show c.1620-479_1620-462delGTTCTTTCCTTCATCAAG	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	15/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
CSF1_chr1_109905849_109935992	109919959	TAAATAAA others(11): Show TAAATAAATAAATAAATAA	T T	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	434	0.0023	-18	c.397 others(35): Show c.397-1885_397-1868delATAAATAAATAAATAAAA	CSF1	ENSG00000184371.14	transcript	ENST00000329608.11	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
CSF2RA_chrX_1263814_1314935	1314745	CCTGCCCA others(11): Show CCTGCCCAATCCCACTGCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0091 a0001c0005t0011g0091	1	159	0.0063	-18	c.52 others(29): Show c.5267_*5284delCTGCCCAATCCCACTGCA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4811		chrX	TogoVar
CSGALNACT1_chr8_19399161_19762277	19407905	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0012 a0004c0009t0012	a0004c0009t0012g0070 a0004c0009t0012g0070	1	238	0.0042	-18	c.130 others(35): Show c.1309+690_1309+707delCACACACACACACACACA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	8/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19488370	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02572.hp1 HG02615.hp2 others(3): Show HG02486.hp2 HG02572.hp1 HG02615.hp2 HG02647.hp1 HG03139.hp1 HG03516.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0003 a0003c0005 a0001c0002 a0002c0003 a0003c0005	a0001c0002t0025 a0002c0003t0003 a0002c0003t0004 others(2): Show a0001c0002t0025 a0002c0003t0003 a0002c0003t0004 a0002c0003t0034 a0003c0005t0027	a0001c0002t0025g0001 a0002c0003t0003g0099 a0002c0003t0004g0006 others(3): Show a0001c0002t0025g0001 a0002c0003t0003g0099 a0002c0003t0004g0006 a0002c0003t0004g0014 a0002c0003t0034g0054 a0003c0005t0027g0229	6	238	0.0252	-18	c.634 others(37): Show c.634+16813_634+16830delATATATATATATATATAT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666791	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02622.hp2 HG03195.hp2 HG01496.hp1 HG02622.hp2 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0005 a0002c0003t0026 a0001c0001t0001 a0001c0002t0005 a0002c0003t0026	a0001c0001t0001g0160 a0001c0002t0005g0075 a0002c0003t0026g0002 a0001c0001t0001g0160 a0001c0002t0005g0075 a0002c0003t0026g0002	3	238	0.0126	-18	c.-39 others(39): Show c.-391-64944_-391-64927delTTCTTTCTTTCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666793	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01070.hp1 HG01071.hp1 others(4): Show HG00733.hp2 HG01070.hp1 HG01071.hp1 HG01258.hp1 HG01361.hp2 NA18941.hp2 NA18984.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0008 a0001c0001 a0001c0002 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0002t0008 a0002c0008t0003	a0001c0001t0001g0061 a0001c0001t0001g0110 a0001c0001t0002g0208 others(4): Show a0001c0001t0001g0061 a0001c0001t0001g0110 a0001c0001t0002g0208 a0001c0002t0002g0010 a0001c0002t0008g0035 a0001c0002t0008g0216 a0002c0008t0003g0155	7	238	0.0294	-18	c.-39 others(39): Show c.-391-64946_-391-64929delCTTTCTTTCTTTCTTTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666797	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAGAG	A A	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0156 a0002c0008t0003g0156	1	238	0.0042	-18	c.-39 others(39): Show c.-391-64950_-391-64933delCTCTCTTTCTTTCTTTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666833	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0028 a0002c0003t0028	a0002c0003t0028g0111 a0002c0003t0028g0111	1	238	0.0042	-18	c.-39 others(39): Show c.-391-64986_-391-64969delTTCTTTCTTTCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT2_chr10_43133445_43190302	43143493	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0167 a0002c0002t0001g0167	1	398	0.0025	-18	c.-25 others(37): Show c.-254+4953_-254+4970delTGTGTGTGTGTGTGTGTG	CSGALNACT2	ENSG00000169826.8	transcript	ENST00000374466.4	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CSGALNACT2_chr10_43133445_43190302	43168673	GACACACA others(11): Show GACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02155.hp1 HG02258.hp2 others(42): Show HG00544.hp2 HG02155.hp1 HG02258.hp2 HG02523.hp1 HG02572.hp2 HG02602.hp2 HG02735.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03491.hp2 HG04199.hp1 NA18941.hp1 NA18944.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp2 NA18957.hp1 NA18961.hp2 NA18964.hp1 NA18965.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp2 NA18988.hp1 NA18991.hp1 NA18993.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19012.hp2 NA19054.hp2 NA19055.hp2 NA19057.hp1 NA19066.hp1 NA19074.hp2 NA19079.hp2 NA19080.hp2 NA19083.hp2 NA19088.hp1 NA19089.hp2 NA19091.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0004 a0001c0007t0004 a0001c0001t0001 a0001c0001t0004 a0001c0007t0004	a0001c0001t0001g0187 a0001c0001t0001g0272 a0001c0001t0001g0273 others(36): Show a0001c0001t0001g0187 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0319 a0001c0001t0004g0009 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0001t0004g0300 a0001c0001t0004g0301 a0001c0001t0004g0302 a0001c0001t0004g0303 a0001c0001t0004g0304 a0001c0001t0004g0305 a0001c0001t0004g0306 a0001c0001t0004g0307 a0001c0001t0004g0308 a0001c0001t0004g0309 a0001c0001t0004g0310 a0001c0001t0004g0311 a0001c0001t0004g0312 a0001c0001t0004g0313 a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0004g0318 a0001c0007t0004g0299	45	398	0.1131	-18	c.125 others(37): Show c.1254+1594_1254+1611delACACACACACACACACAC	CSGALNACT2	ENSG00000169826.8	transcript	ENST00000374466.4	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CSMD1_chr8_2930361_4999914	2987955	TACCATGG others(11): Show TACCATGGGGGTTGGCTGC	T T	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02056.hp2 HG02615.hp1 others(6): Show HG01934.hp1 HG02056.hp2 HG02615.hp1 HG02886.hp1 HG02965.hp2 HG03098.hp1 HG03130.hp1 HG03540.hp2 NA18979.hp2	a0001 a0009 a0026 others(1): Show a0001 a0009 a0026 a0038	a0001c0002 a0001c0003 a0001c0026 others(6): Show a0001c0002 a0001c0003 a0001c0026 a0001c0039 a0001c0071 a0001c0080 a0009c0113 a0026c0082 a0038c0066	a0001c0002t0028 a0001c0003t0019 a0001c0026t0006 others(6): Show a0001c0002t0028 a0001c0003t0019 a0001c0026t0006 a0001c0039t0066 a0001c0071t0069 a0001c0080t0040 a0009c0113t0011 a0026c0082t0052 a0038c0066t0010	a0001c0002t0028g0005 a0001c0003t0019g0107 a0001c0026t0006g0093 others(6): Show a0001c0002t0028g0005 a0001c0003t0019g0107 a0001c0026t0006g0093 a0001c0039t0066g0080 a0001c0071t0069g0115 a0001c0080t0040g0025 a0009c0113t0011g0043 a0026c0082t0052g0097 a0038c0066t0010g0032	9	126	0.0714	-18	c.837 others(37): Show c.8378-9173_8378-9156delGCAGCCAACCCCCATGGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	54/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3388896	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0037 a0037	a0037c0101 a0037c0101	a0037c0101t0008 a0037c0101t0008	a0037c0101t0008g0023 a0037c0101t0008g0023	1	126	0.0079	-18	c.259 others(37): Show c.2594-1232_2594-1215delGTGTGTGTGTGTGTGTGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	17/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3548659	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02056.hp2 NA18982.hp1 HG00423.hp2 HG02056.hp2 NA18982.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0071 a0002c0089 a0004c0086 a0001c0071 a0002c0089 a0004c0086	a0001c0071t0069 a0002c0089t0001 a0004c0086t0002 a0001c0071t0069 a0002c0089t0001 a0004c0086t0002	a0001c0071t0069g0115 a0002c0089t0001g0037 a0004c0086t0002g0118 a0001c0071t0069g0115 a0002c0089t0001g0037 a0004c0086t0002g0118	3	126	0.0238	-18	c.134 others(39): Show c.1344+26268_1344+26285delGTGTGTGTGTGTGTGTGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3592659	CGTGTGTG others(11): Show CGTGTGTGTGCACATCCGT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01123.hp1 HG01261.hp2 others(18): Show HG01071.hp1 HG01123.hp1 HG01261.hp2 HG01884.hp1 HG02451.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03516.hp2 HG03579.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp2 NA19043.hp2 NA19240.hp1 NA20129.hp2	a0001 a0002 a0006 others(8): Show a0001 a0002 a0006 a0007 a0008 a0010 a0011 a0012 a0016 a0017 a0026	a0001c0002 a0001c0046 a0001c0050 others(18): Show a0001c0002 a0001c0046 a0001c0050 a0001c0085 a0001c0111 a0002c0032 a0002c0041 a0002c0051 a0002c0054 a0002c0070 a0002c0074 a0006c0116 a0007c0029 a0008c0008 a0008c0067 a0010c0112 a0011c0110 a0012c0104 a0016c0063 a0017c0106 a0026c0082	a0001c0002t0028 a0001c0046t0073 a0001c0050t0053 others(18): Show a0001c0002t0028 a0001c0046t0073 a0001c0050t0053 a0001c0085t0020 a0001c0111t0045 a0002c0032t0050 a0002c0041t0027 a0002c0051t0006 a0002c0054t0079 a0002c0070t0046 a0002c0074t0041 a0006c0116t0004 a0007c0029t0011 a0008c0008t0082 a0008c0067t0059 a0010c0112t0081 a0011c0110t0074 a0012c0104t0071 a0016c0063t0010 a0017c0106t0012 a0026c0082t0052	a0001c0002t0028g0005 a0001c0046t0073g0091 a0001c0050t0053g0120 others(18): Show a0001c0002t0028g0005 a0001c0046t0073g0091 a0001c0050t0053g0120 a0001c0085t0020g0060 a0001c0111t0045g0063 a0002c0032t0050g0061 a0002c0041t0027g0018 a0002c0051t0006g0081 a0002c0054t0079g0096 a0002c0070t0046g0092 a0002c0074t0041g0031 a0006c0116t0004g0039 a0007c0029t0011g0054 a0008c0008t0082g0126 a0008c0067t0059g0079 a0010c0112t0081g0090 a0011c0110t0074g0082 a0012c0104t0071g0058 a0016c0063t0010g0045 a0017c0106t0012g0042 a0026c0082t0052g0097	21	126	0.1667	-18	c.109 others(37): Show c.1098-6417_1098-6400delACGGATGTGCACACACAC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	8/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3634692	GTGTGATT others(11): Show GTGTGATTAGAACTGTGCT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02572.hp2 others(7): Show HG02055.hp2 HG02257.hp1 HG02572.hp2 HG02723.hp1 HG03139.hp2 HG03195.hp1 HG03516.hp1 HG03540.hp1 NA19030.hp1 NA19240.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0024	a0001c0019 a0001c0033 a0001c0045 others(7): Show a0001c0019 a0001c0033 a0001c0045 a0002c0015 a0002c0054 a0003c0014 a0003c0057 a0007c0029 a0007c0088 a0024c0038	a0001c0019t0078 a0001c0033t0003 a0001c0045t0012 others(7): Show a0001c0019t0078 a0001c0033t0003 a0001c0045t0012 a0002c0015t0021 a0002c0054t0079 a0003c0014t0055 a0003c0057t0080 a0007c0029t0011 a0007c0088t0076 a0024c0038t0075	a0001c0019t0078g0105 a0001c0033t0003g0059 a0001c0045t0012g0010 others(7): Show a0001c0019t0078g0105 a0001c0033t0003g0059 a0001c0045t0012g0010 a0002c0015t0021g0008 a0002c0054t0079g0096 a0003c0014t0055g0056 a0003c0057t0080g0075 a0007c0029t0011g0054 a0007c0088t0076g0057 a0024c0038t0075g0067	10	126	0.0794	-18	c.101 others(39): Show c.1010-17913_1010-17896delAGCACAGTTCTAATCACA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3652060	ACTTACCC others(11): Show ACTTACCCCCATCAGAGCG	A A	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0019 a0001c0040t0019	a0001c0040t0019g0123 a0001c0040t0019g0123	1	126	0.0079	-18	c.101 others(39): Show c.1010-35281_1010-35264delCGCTCTGATGGGGGTAAG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3652117	TACCATCA others(11): Show TACCATCAGAGCGCTTACC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01261.hp1 HG02258.hp1 others(5): Show HG01071.hp2 HG01261.hp1 HG02258.hp1 HG02886.hp1 HG03225.hp2 HG03516.hp1 HG06807.hp1 HG06807.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0025 a0001c0039 a0001c0047 others(5): Show a0001c0025 a0001c0039 a0001c0047 a0001c0068 a0001c0108 a0001c0114 a0002c0035 a0003c0014	a0001c0025t0003 a0001c0039t0066 a0001c0047t0014 others(5): Show a0001c0025t0003 a0001c0039t0066 a0001c0047t0014 a0001c0068t0015 a0001c0108t0054 a0001c0114t0003 a0002c0035t0047 a0003c0014t0055	a0001c0025t0003g0077 a0001c0039t0066g0080 a0001c0047t0014g0024 others(5): Show a0001c0025t0003g0077 a0001c0039t0066g0080 a0001c0047t0014g0024 a0001c0068t0015g0049 a0001c0108t0054g0074 a0001c0114t0003g0119 a0002c0035t0047g0076 a0003c0014t0055g0056	8	126	0.0635	-18	c.101 others(39): Show c.1010-35338_1010-35321delGGTAAGCGCTCTGATGGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3772378	TTCATATA others(11): Show TTCATATATTTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0033 a0033	a0033c0042 a0033c0042	a0033c0042t0004 a0033c0042t0004	a0033c0042t0004g0004 a0033c0042t0004g0004	1	126	0.0079	-18	c.819 others(37): Show c.819-18354_819-18337delGTATATATAAATATATGA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3772472	TATATATA others(11): Show TATATATACATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp1 NA19240.hp2 HG01884.hp1 HG02258.hp1 NA19240.hp2	a0001 a0001	a0001c0045 a0001c0046 a0001c0114 a0001c0045 a0001c0046 a0001c0114	a0001c0045t0012 a0001c0046t0073 a0001c0114t0003 a0001c0045t0012 a0001c0046t0073 a0001c0114t0003	a0001c0045t0012g0010 a0001c0046t0073g0091 a0001c0114t0003g0119 a0001c0045t0012g0010 a0001c0046t0073g0091 a0001c0114t0003g0119	3	126	0.0238	-18	c.819 others(37): Show c.819-18448_819-18431delGTGTATATATGTATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3817252	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0050 a0001c0050	a0001c0050t0053 a0001c0050t0053	a0001c0050t0053g0120 a0001c0050t0053g0120	1	126	0.0079	-18	c.819 others(37): Show c.819-63228_819-63211delAAAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4078891	TAATAAAT others(11): Show TAATAAATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02723.hp1 NA19030.hp1 HG02615.hp2 HG02723.hp1 NA19030.hp1	a0001 a0024 a0001 a0024	a0001c0004 a0001c0019 a0024c0038 a0001c0004 a0001c0019 a0024c0038	a0001c0004t0063 a0001c0019t0078 a0024c0038t0075 a0001c0004t0063 a0001c0019t0078 a0024c0038t0075	a0001c0004t0063g0095 a0001c0019t0078g0105 a0024c0038t0075g0067 a0001c0004t0063g0095 a0001c0019t0078g0105 a0024c0038t0075g0067	3	126	0.0238	-18	c.416 others(37): Show c.416-46810_416-46793delTATATATATATATTTATT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4078896	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0057 a0003c0057	a0003c0057t0080 a0003c0057t0080	a0003c0057t0080g0075 a0003c0057t0080g0075	1	126	0.0079	-18	c.416 others(37): Show c.416-46815_416-46798delATATATATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4332552	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00438.hp1 others(22): Show HG00099.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00735.hp1 HG01071.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02486.hp2 HG02559.hp1 HG02683.hp2 HG02723.hp2 HG02965.hp1 HG03098.hp2 HG03225.hp2 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG04228.hp2 NA18522.hp2 NA18906.hp2 NA18982.hp2 NA19060.hp1	a0001 a0002 a0005 others(6): Show a0001 a0002 a0005 a0008 a0009 a0011 a0021 a0022 a0030	a0001c0001 a0001c0002 a0001c0004 others(21): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0025 a0001c0047 a0001c0071 a0001c0081 a0001c0094 a0002c0012 a0002c0037 a0002c0070 a0002c0072 a0002c0089 a0002c0091 a0005c0065 a0008c0067 a0009c0113 a0011c0110 a0021c0016 a0022c0013 a0030c0052	a0001c0001t0039 a0001c0002t0002 a0001c0004t0020 others(22): Show a0001c0001t0039 a0001c0002t0002 a0001c0004t0020 a0001c0005t0002 a0001c0005t0007 a0001c0006t0002 a0001c0007t0001 a0001c0025t0003 a0001c0047t0014 a0001c0071t0069 a0001c0081t0037 a0001c0094t0002 a0002c0012t0017 a0002c0037t0009 a0002c0070t0046 a0002c0072t0003 a0002c0089t0001 a0002c0091t0002 a0005c0065t0023 a0008c0067t0059 a0009c0113t0011 a0011c0110t0074 a0021c0016t0048 a0022c0013t0007 a0030c0052t0049	a0001c0001t0039g0017 a0001c0002t0002g0083 a0001c0004t0020g0086 others(22): Show a0001c0001t0039g0017 a0001c0002t0002g0083 a0001c0004t0020g0086 a0001c0005t0002g0111 a0001c0005t0007g0070 a0001c0006t0002g0109 a0001c0007t0001g0035 a0001c0025t0003g0077 a0001c0047t0014g0024 a0001c0071t0069g0115 a0001c0081t0037g0030 a0001c0094t0002g0110 a0002c0012t0017g0088 a0002c0037t0009g0046 a0002c0070t0046g0092 a0002c0072t0003g0066 a0002c0089t0001g0037 a0002c0091t0002g0114 a0005c0065t0023g0050 a0008c0067t0059g0079 a0009c0113t0011g0043 a0011c0110t0074g0082 a0021c0016t0048g0106 a0022c0013t0007g0112 a0030c0052t0049g0098	25	126	0.1984	-18	c.415 others(37): Show c.415+87383_415+87400delGTGTGTGTGTGTGTGTGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4346877	TCTGGCTG others(11): Show TCTGGCTGGATTGTAAAAC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02723.hp2 HG03225.hp2 others(3): Show HG02647.hp1 HG02723.hp2 HG03225.hp2 HG03540.hp2 HG06807.hp2 NA18906.hp2	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0008 a0009	a0001c0025 a0001c0068 a0003c0058 others(3): Show a0001c0025 a0001c0068 a0003c0058 a0005c0065 a0008c0067 a0009c0113	a0001c0025t0003 a0001c0068t0015 a0003c0058t0057 others(3): Show a0001c0025t0003 a0001c0068t0015 a0003c0058t0057 a0005c0065t0023 a0008c0067t0059 a0009c0113t0011	a0001c0025t0003g0077 a0001c0068t0015g0049 a0003c0058t0057g0117 others(3): Show a0001c0025t0003g0077 a0001c0068t0015g0049 a0003c0058t0057g0117 a0005c0065t0023g0050 a0008c0067t0059g0079 a0009c0113t0011g0043	6	126	0.0476	-18	c.415 others(37): Show c.415+73058_415+73075delGTTTTACAATCCAGCCAG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4484980	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03139.hp1 HG02055.hp1 HG03139.hp1	a0002 a0006 a0002 a0006	a0002c0074 a0006c0083 a0002c0074 a0006c0083	a0002c0074t0041 a0006c0083t0004 a0002c0074t0041 a0006c0083t0004	a0002c0074t0041g0031 a0006c0083t0004g0006 a0002c0074t0041g0031 a0006c0083t0004g0006	2	126	0.0159	-18	c.303 others(37): Show c.303-64933_303-64916delTTTTTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4486232	TATATATA others(11): Show TATATATATATATACATAC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02886.hp1 HG03579.hp1 others(1): Show HG02723.hp1 HG02886.hp1 HG03579.hp1 NA19043.hp2	a0001 a0006 a0024 a0001 a0006 a0024	a0001c0039 a0001c0050 a0006c0116 others(1): Show a0001c0039 a0001c0050 a0006c0116 a0024c0038	a0001c0039t0066 a0001c0050t0053 a0006c0116t0004 others(1): Show a0001c0039t0066 a0001c0050t0053 a0006c0116t0004 a0024c0038t0075	a0001c0039t0066g0080 a0001c0050t0053g0120 a0006c0116t0004g0039 others(1): Show a0001c0039t0066g0080 a0001c0050t0053g0120 a0006c0116t0004g0039 a0024c0038t0075g0067	4	126	0.0318	-18	c.303 others(37): Show c.303-66185_303-66168delGTATGTATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4559215	AGTTGGAT others(11): Show AGTTGGATAAACTTAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02258.hp1 HG02280.hp1 others(10): Show HG01081.hp2 HG02258.hp1 HG02280.hp1 HG02572.hp2 HG02965.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 NA18522.hp1 NA19043.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0007 a0011 a0013 a0020 a0027 a0030	a0001c0002 a0001c0093 a0001c0114 others(10): Show a0001c0002 a0001c0093 a0001c0114 a0002c0015 a0002c0053 a0003c0014 a0005c0107 a0007c0029 a0011c0110 a0013c0027 a0020c0024 a0027c0023 a0030c0052	a0001c0002t0028 a0001c0093t0009 a0001c0114t0003 others(10): Show a0001c0002t0028 a0001c0093t0009 a0001c0114t0003 a0002c0015t0021 a0002c0053t0022 a0003c0014t0055 a0005c0107t0068 a0007c0029t0011 a0011c0110t0074 a0013c0027t0003 a0020c0024t0077 a0027c0023t0001 a0030c0052t0049	a0001c0002t0028g0005 a0001c0093t0009g0007 a0001c0114t0003g0119 others(10): Show a0001c0002t0028g0005 a0001c0093t0009g0007 a0001c0114t0003g0119 a0002c0015t0021g0008 a0002c0053t0022g0041 a0003c0014t0055g0056 a0005c0107t0068g0073 a0007c0029t0011g0054 a0011c0110t0074g0082 a0013c0027t0003g0099 a0020c0024t0077g0104 a0027c0023t0001g0052 a0030c0052t0049g0098	13	126	0.1032	-18	c.302 others(37): Show c.302+78109_302+78126delATTTTAAGTTTATCCAAC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4565749	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02129.hp1 HG04228.hp1 others(2): Show HG02074.hp1 HG02129.hp1 HG04228.hp1 NA18983.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0079 others(2): Show a0001c0001 a0001c0007 a0001c0079 a0001c0103 a0001c0105	a0001c0001t0002 a0001c0007t0001 a0001c0079t0072 others(2): Show a0001c0001t0002 a0001c0007t0001 a0001c0079t0072 a0001c0103t0033 a0001c0105t0001	a0001c0001t0002g0125 a0001c0007t0001g0035 a0001c0079t0072g0113 others(2): Show a0001c0001t0002g0125 a0001c0007t0001g0035 a0001c0079t0072g0113 a0001c0103t0033g0028 a0001c0105t0001g0029	5	126	0.0397	-18	c.302 others(37): Show c.302+71575_302+71592delATATATATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4637644	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02486.hp2 HG01123.hp1 HG02486.hp2	a0002 a0008 a0002 a0008	a0002c0070 a0008c0008 a0002c0070 a0008c0008	a0002c0070t0046 a0008c0008t0082 a0002c0070t0046 a0008c0008t0082	a0002c0070t0046g0092 a0008c0008t0082g0126 a0002c0070t0046g0092 a0008c0008t0082g0126	2	126	0.0159	-18	c.86- others(30): Show c.86-104_86-87delAAAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4707886	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG03209.hp2 NA18906.hp1 others(1): Show HG02074.hp2 HG03209.hp2 NA18906.hp1 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0032 a0002c0060 others(1): Show a0001c0007 a0002c0032 a0002c0060 a0002c0091	a0001c0007t0001 a0002c0032t0050 a0002c0060t0006 others(1): Show a0001c0007t0001 a0002c0032t0050 a0002c0060t0006 a0002c0091t0002	a0001c0007t0001g0035 a0002c0032t0050g0061 a0002c0060t0006g0094 others(1): Show a0001c0007t0001g0035 a0002c0032t0050g0061 a0002c0060t0006g0094 a0002c0091t0002g0114	4	126	0.0318	-18	c.86- others(35): Show c.86-70346_86-70329delTTTTTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD2_chr1_33508998_34170230	33707691	GCGCGCAC others(11): Show GCGCGCACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03209.hp2 HG06807.hp1 HG01243.hp1 HG03209.hp2 HG06807.hp1	a0001 a0017 a0019 a0001 a0017 a0019	a0001c0001 a0017c0052 a0019c0030 a0001c0001 a0017c0052 a0019c0030	a0001c0001t0003 a0017c0052t0003 a0019c0030t0003 a0001c0001t0003 a0017c0052t0003 a0019c0030t0003	a0001c0001t0003g0063 a0017c0052t0003g0040 a0019c0030t0003g0020 a0001c0001t0003g0063 a0017c0052t0003g0040 a0019c0030t0003g0020	3	66	0.0455	-18	c.357 others(37): Show c.3576+1380_3576+1397delTGTGTGTGTGTGTGCGCG	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	22/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	33952686	ACACACAC others(11): Show ACACACACACACACACATG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0022 a0022	a0022c0019 a0022c0019	a0022c0019t0011 a0022c0019t0011	a0022c0019t0011g0017 a0022c0019t0011g0017	1	66	0.0152	-18	c.518 others(37): Show c.518-16750_518-16733delCATGTGTGTGTGTGTGTG	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	3/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	33989013	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0002 a0001c0044t0002	a0001c0044t0002g0026 a0001c0044t0002g0026	1	66	0.0152	-18	c.517 others(37): Show c.517+43563_517+43580delATATATATATATATATAT	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	3/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	34027840	CTGGGCAG others(11): Show CTGGGCAGACAGCCCTACA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00673.hp1 others(51): Show HG00438.hp1 HG00438.hp2 HG00673.hp1 HG00673.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01978.hp2 HG02080.hp1 HG02080.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18998.hp1 NA18998.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(25): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0017 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031	a0001c0001 a0001c0026 a0001c0040 others(43): Show a0001c0001 a0001c0026 a0001c0040 a0001c0042 a0001c0045 a0001c0047 a0002c0002 a0002c0005 a0002c0006 a0002c0027 a0002c0043 a0003c0003 a0003c0004 a0003c0035 a0003c0048 a0003c0050 a0004c0031 a0004c0034 a0004c0049 a0004c0051 a0005c0012 a0005c0020 a0006c0013 a0007c0024 a0007c0025 a0008c0022 a0009c0055 a0010c0056 a0011c0039 a0012c0028 a0013c0041 a0014c0036 a0017c0052 a0019c0030 a0020c0054 a0021c0038 a0022c0019 a0023c0017 a0024c0014 a0025c0011 a0026c0023 a0027c0018 a0028c0010 a0029c0009 a0030c0008 a0031c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(49): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0026t0003 a0001c0040t0001 a0001c0042t0005 a0001c0045t0013 a0001c0047t0001 a0002c0002t0001 a0002c0002t0005 a0002c0002t0010 a0002c0005t0003 a0002c0006t0001 a0002c0006t0004 a0002c0027t0003 a0002c0043t0003 a0003c0003t0002 a0003c0003t0005 a0003c0004t0003 a0003c0035t0006 a0003c0048t0006 a0003c0050t0004 a0004c0031t0004 a0004c0034t0015 a0004c0049t0009 a0004c0051t0001 a0005c0012t0001 a0005c0020t0006 a0006c0013t0003 a0007c0024t0002 a0007c0025t0001 a0008c0022t0001 a0009c0055t0001 a0010c0056t0001 a0011c0039t0014 a0012c0028t0007 a0013c0041t0005 a0014c0036t0002 a0017c0052t0003 a0019c0030t0003 a0020c0054t0008 a0021c0038t0002 a0022c0019t0011 a0023c0017t0016 a0024c0014t0002 a0025c0011t0001 a0026c0023t0003 a0027c0018t0001 a0028c0010t0017 a0029c0009t0018 a0030c0008t0004 a0031c0007t0002	a0001c0001t0001g0033 a0001c0001t0001g0062 a0001c0001t0002g0043 others(51): Show a0001c0001t0001g0033 a0001c0001t0001g0062 a0001c0001t0002g0043 a0001c0001t0003g0063 a0001c0026t0003g0035 a0001c0040t0001g0010 a0001c0042t0005g0051 a0001c0045t0013g0027 a0001c0047t0001g0031 a0002c0002t0001g0013 a0002c0002t0005g0036 a0002c0002t0010g0016 a0002c0005t0003g0056 a0002c0006t0001g0008 a0002c0006t0004g0052 a0002c0027t0003g0045 a0002c0043t0003g0061 a0003c0003t0002g0009 a0003c0003t0005g0029 a0003c0004t0003g0053 a0003c0004t0003g0054 a0003c0035t0006g0006 a0003c0048t0006g0032 a0003c0050t0004g0037 a0004c0031t0004g0005 a0004c0034t0015g0015 a0004c0049t0009g0012 a0004c0051t0001g0019 a0005c0012t0001g0003 a0005c0020t0006g0046 a0006c0013t0003g0058 a0007c0024t0002g0057 a0007c0025t0001g0042 a0008c0022t0001g0060 a0009c0055t0001g0049 a0010c0056t0001g0047 a0011c0039t0014g0014 a0012c0028t0007g0041 a0013c0041t0005g0011 a0014c0036t0002g0044 a0017c0052t0003g0040 a0019c0030t0003g0020 a0020c0054t0008g0030 a0021c0038t0002g0007 a0022c0019t0011g0017 a0023c0017t0016g0066 a0024c0014t0002g0059 a0025c0011t0001g0004 a0026c0023t0003g0039 a0027c0018t0001g0048 a0028c0010t0017g0064 a0029c0009t0018g0065 a0030c0008t0004g0001 a0031c0007t0002g0002	54	66	0.8182	-18	c.517 others(35): Show c.517+4736_517+4753delTGTAGGGCTGTCTGCCCA	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	3/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	34169618	AGAGAGAG others(11): Show AGAGAGAGAGAGAGAGAGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0004 a0004	a0004c0049 a0004c0049	a0004c0049t0009 a0004c0049t0009	a0004c0049t0009g0012 a0004c0049t0009g0012	1	66	0.0152	-18	c.-45 others(29): Show c.-4539_-4522delACTCTCTCTCTCTCTCTC	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding		4389		chr1	TogoVar
CSMD3_chr8_112217928_113441939	112270343	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp1 HG03041.hp1 HG02257.hp2 HG02280.hp1 HG03041.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0006c0008t0005 a0001c0001t0001 a0006c0008t0005	a0001c0001t0001g0016 a0006c0008t0005g0004 a0006c0008t0005g0005 a0001c0001t0001g0016 a0006c0008t0005g0004 a0006c0008t0005g0005	3	80	0.0375	-18	c.950 others(37): Show c.9509-4771_9509-4754delACACACACACACACACAC	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	59/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112279013	AAACAACA others(11): Show AAACAACAACAACAACAAC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp2 HG02559.hp2 others(7): Show HG01109.hp1 HG02055.hp2 HG02559.hp2 HG02717.hp1 HG03041.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03516.hp1 NA20300.hp2	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0007 a0008 a0011 a0013	a0001c0023 a0002c0003 a0002c0032 others(6): Show a0001c0023 a0002c0003 a0002c0032 a0005c0012 a0005c0013 a0007c0009 a0008c0014 a0011c0035 a0013c0026	a0001c0023t0001 a0002c0003t0002 a0002c0032t0001 others(6): Show a0001c0023t0001 a0002c0003t0002 a0002c0032t0001 a0005c0012t0001 a0005c0013t0001 a0007c0009t0001 a0008c0014t0005 a0011c0035t0001 a0013c0026t0001	a0001c0023t0001g0056 a0002c0003t0002g0051 a0002c0032t0001g0079 others(7): Show a0001c0023t0001g0056 a0002c0003t0002g0051 a0002c0032t0001g0079 a0005c0012t0001g0038 a0005c0013t0001g0039 a0007c0009t0001g0048 a0007c0009t0001g0069 a0008c0014t0005g0040 a0011c0035t0001g0003 a0013c0026t0001g0057	10	80	0.1250	-18	c.950 others(37): Show c.9508+2143_9508+2160delGTTGTTGTTGTTGTTGTT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	59/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112361572	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp1 HG02895.hp2 others(5): Show HG02055.hp1 HG02258.hp1 HG02895.hp2 HG03139.hp1 HG03471.hp2 HG04115.hp2 NA18944.hp2 NA19240.hp1	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0017	a0001c0001 a0001c0021 a0002c0003 others(2): Show a0001c0001 a0001c0021 a0002c0003 a0009c0018 a0017c0029	a0001c0001t0004 a0001c0021t0004 a0002c0003t0006 others(2): Show a0001c0001t0004 a0001c0021t0004 a0002c0003t0006 a0009c0018t0003 a0017c0029t0004	a0001c0001t0004g0007 a0001c0001t0004g0042 a0001c0001t0004g0058 others(5): Show a0001c0001t0004g0007 a0001c0001t0004g0042 a0001c0001t0004g0058 a0001c0001t0004g0067 a0001c0021t0004g0037 a0002c0003t0006g0061 a0009c0018t0003g0071 a0017c0029t0004g0063	8	80	0.1000	-18	c.613 others(37): Show c.6137-9056_6137-9039delATATATATATATATATAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	38/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112370023	GGAAGAAG others(11): Show GGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG04115.hp1 HG01169.hp1 HG04115.hp1	a0003 a0003	a0003c0002 a0003c0020 a0003c0002 a0003c0020	a0003c0002t0001 a0003c0020t0001 a0003c0002t0001 a0003c0020t0001	a0003c0002t0001g0021 a0003c0020t0001g0080 a0003c0002t0001g0021 a0003c0020t0001g0080	2	80	0.0250	-18	c.613 others(39): Show c.6136+10311_6136+10328delTTCTTCTTCTTCTTCTTC	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	38/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112609201	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0005 a0008c0014t0005	a0008c0014t0005g0040 a0008c0014t0005g0040	1	80	0.0125	-18	c.371 others(39): Show c.3716-21984_3716-21967delTTTTTTTTTTTTTTTTTT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	22/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112827160	CATAAATA others(11): Show CATAAATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG03225.hp2 HG01169.hp1 HG03225.hp2	a0003 a0007 a0003 a0007	a0003c0002 a0007c0009 a0003c0002 a0007c0009	a0003c0002t0001 a0007c0009t0001 a0003c0002t0001 a0007c0009t0001	a0003c0002t0001g0021 a0007c0009t0001g0069 a0003c0002t0001g0021 a0007c0009t0001g0069	2	80	0.0250	-18	c.185 others(37): Show c.1859+2508_1859+2525delATATATATATATATTTAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	12/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112827164	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG01109.hp1 others(7): Show HG00423.hp2 HG00438.hp2 HG01109.hp1 HG01255.hp1 HG02055.hp1 HG02809.hp2 HG02976.hp1 HG03490.hp2 NA18944.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0002 a0001c0001 a0002c0003 a0003c0002	a0001c0001t0002 a0001c0001t0004 a0002c0003t0002 others(1): Show a0001c0001t0002 a0001c0001t0004 a0002c0003t0002 a0003c0002t0001	a0001c0001t0002g0068 a0001c0001t0004g0007 a0001c0001t0004g0058 others(7): Show a0001c0001t0002g0068 a0001c0001t0004g0007 a0001c0001t0004g0058 a0002c0003t0002g0051 a0003c0002t0001g0019 a0003c0002t0001g0020 a0003c0002t0001g0050 a0003c0002t0001g0053 a0003c0002t0001g0066 a0003c0002t0001g0072	10	80	0.1250	-18	c.185 others(37): Show c.1859+2504_1859+2521delATATATATATATATATAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	12/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113112386	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA19030.hp1 HG01081.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0004 a0001c0024t0002 a0001c0001t0004 a0001c0024t0002	a0001c0001t0004g0015 a0001c0024t0002g0024 a0001c0001t0004g0015 a0001c0024t0002g0024	2	80	0.0250	-18	c.710 others(37): Show c.710-13441_710-13424delATATATATATATATATAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	4/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113440982	CACACACA others(11): Show CACACACACAGACACACAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0009 a0004c0004t0009	a0004c0004t0009g0032 a0004c0004t0009g0032	1	80	0.0125	-18	c.-41 others(29): Show c.-4146_-4129delCTGTGTGTCTGTGTGTGT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding		4044		chr8	TogoVar
CSN1S1_chr4_69926068_69951574	69943163	ATATTATT others(11): Show ATATTATTATTATTATTAT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02965.hp2 HG03225.hp2 others(1): Show HG02818.hp1 HG02965.hp2 HG03225.hp2 NA18522.hp2	a0002 a0002	a0002c0008 a0002c0023 a0002c0008 a0002c0023	a0002c0008t0001 a0002c0023t0001 a0002c0008t0001 a0002c0023t0001	a0002c0008t0001g0019 a0002c0023t0001g0059 a0002c0008t0001g0019 a0002c0023t0001g0059	4	448	0.0089	-18	c.402 others(33): Show c.402+610_402+627delTTATTATTATTATTATTA	CSN1S1	ENSG00000126545.14	transcript	ENST00000246891.9	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CSNK1A1_chr5_149487982_149556439	149499950	GTTTTTTT others(11): Show GTTTTTTTTCTTTTTTTCT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01496.hp2 HG01981.hp1 others(6): Show HG00738.hp1 HG01496.hp2 HG01981.hp1 HG02735.hp2 HG03942.hp1 HG04204.hp2 NA18978.hp2 NA19005.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0031 a0001c0001t0001 a0001c0001t0012 a0001c0001t0031	a0001c0001t0001g0013 a0001c0001t0001g0041 a0001c0001t0001g0051 others(6): Show a0001c0001t0001g0013 a0001c0001t0001g0041 a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0086 a0001c0001t0001g0096 a0001c0001t0012g0082 a0001c0001t0031g0008	9	390	0.0231	-18	c.100 others(37): Show c.1007-3108_1007-3091delAGAAAAAAAGAAAAAAAA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	9/9			chr5	TogoVar

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