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
CLPTM1L_chr5_1312752_1350099	1326708	C C	CCATCCAG others(22): Show CCATCCAGCTCCTCCTCTACGGGGACATTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01168.hp2 HG01346.hp2 others(1): Show HG00738.hp2 HG01168.hp2 HG01346.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0006 a0001c0001t0001g0169 a0001c0001t0001g0170	4	370	0.0108	29	c.108 others(46): Show c.1081-921_1081-893dupAAATGTCCCCGTAGAGGAGGAGCTGGAT G	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1327726	T T	TCCAGCTC others(22): Show TCCAGCTCCTCCTCTACAGGGACATTCCAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03453.hp2 HG02809.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0226 a0001c0001t0001g0167 a0001c0001t0001g0226	2	370	0.0054	29	c.108 others(48): Show c.1081-1939_1081-1911dupGTGGAATGTCCCTGTAGAGGAGGAGC TGG	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1327813	T T	TCCAGCTC others(22): Show TCCAGCTCCTCCTCTACAGGGACATTCCAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG03688.hp2 HG04204.hp1 HG01074.hp1 HG03688.hp2 HG04204.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0250 a0002c0003t0004g0252 a0002c0003t0004g0253 a0002c0003t0004g0250 a0002c0003t0004g0252 a0002c0003t0004g0253	3	370	0.0081	29	c.108 others(48): Show c.1081-1998_1081-1997insGTGGAATGTCCCTGTAGAGGAGGAGC TGG	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1328044	A A	ATCCAGCT others(22): Show ATCCAGCTCCTCCTCTACAGGGACATTTCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02965.hp2 HG03139.hp1 others(1): Show HG02257.hp1 HG02965.hp2 HG03139.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0304 a0001c0001t0002g0003 a0001c0001t0002g0304	4	370	0.0108	29	c.108 others(48): Show c.1081-2229_1081-2228insAGAAATGTCCCTGTAGAGGAGGAGCT GGA	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1328059	T T	TACAGACA others(22): Show TACAGACACATTCCATCCAGCTCCTCCTCG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02738.hp1 HG02818.hp1 others(1): Show HG01884.hp1 HG02738.hp1 HG02818.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0004 a0001c0001t0002 a0002c0003t0004	a0001c0001t0002g0011 a0001c0001t0002g0258 a0002c0003t0004g0251 a0001c0001t0002g0011 a0001c0001t0002g0258 a0002c0003t0004g0251	4	370	0.0108	29	c.108 others(48): Show c.1080+2220_1080+2221insCGAGGAGGAGCTGGATGGAATGTGTC TGT	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1328118	A A	ACAGACAC others(22): Show ACAGACACATTCCATCCAGCTCCTCCTCTG	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	370	0.0027	29	c.108 others(48): Show c.1080+2161_1080+2162insCAGAGGAGGAGCTGGATGGAATGTGT CTG	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1328947	C C	CCAGCTCC others(22): Show CCAGCTCCTCCTCTACAGACACATTTCATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03453.hp2 HG02809.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0226 a0001c0001t0001g0167 a0001c0001t0001g0226	2	370	0.0054	29	c.108 others(48): Show c.1080+1304_1080+1332dupTATGAAATGTGTCTGTAGAGGAGGAG CTG	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1328976	A A	ACAGCTCC others(22): Show ACAGCTCCTCCTCTACAGAGACATTCCACC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	370	0.0027	29	c.108 others(48): Show c.1080+1303_1080+1304insGGTGGAATGTCTCTGTAGAGGAGGAG CTG	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1329005	C C	CCAGCTCC others(22): Show CCAGCTCCTCCTCGACAGACACATTTCATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp2 HG02055.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0266 a0001c0001t0002g0267	2	370	0.0054	29	c.108 others(48): Show c.1080+1274_1080+1275insTATGAAATGTGTCTGTCGAGGAGGAG CTG	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1329019	A A	ACAGAGAC others(22): Show ACAGAGACATTGCATCCAGCTCCTCCTCTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp2 HG02055.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0266 a0001c0001t0002g0267	2	370	0.0054	29	c.108 others(48): Show c.1080+1260_1080+1261insCAGAGGAGGAGCTGGATGCAATGTCT CTG	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1329527	A A	AGCCTCAG others(22): Show AGCCTCAGGACTCTCTGCCTGGTGGACAGG	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18522.hp1 NA19081.hp1 others(1): Show HG02976.hp2 NA18522.hp1 NA19081.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0230 a0001c0001t0001g0231 others(1): Show a0001c0001t0001g0118 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233	4	370	0.0108	29	c.108 others(46): Show c.1080+752_1080+753insCCTGTCCACCAGGCAGAGAGTCCTGAGG C	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1329574	T T	TTGGTGGA others(22): Show TTGGTGGACAGGGCCTCAGGACTCTCTGCC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18970.hp1 NA18943.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0149 a0001c0001t0001g0150	2	370	0.0054	29	c.108 others(46): Show c.1080+677_1080+705dupGGCAGAGAGTCCTGAGGCCCTGTCCACC A	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1329626	C C	CTCTGCCT others(22): Show CTCTGCCTGGTGGACAGGGCCTCAGGACTA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00609.hp2 others(21): Show HG00438.hp1 HG00438.hp2 HG00609.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG01243.hp2 HG01358.hp1 HG01515.hp1 HG01978.hp2 HG02074.hp1 HG02559.hp2 HG02602.hp2 HG02630.hp1 HG02818.hp1 HG02896.hp2 HG03098.hp1 HG03471.hp2 HG04115.hp2 NA18906.hp2 NA18939.hp1 NA18981.hp1 NA19000.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0244 others(19): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0244 a0001c0001t0001g0256 a0001c0001t0001g0268 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0002g0011 a0001c0001t0002g0247 a0001c0001t0002g0274 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282	24	370	0.0649	29	c.108 others(46): Show c.1080+653_1080+654insTAGTCCTGAGGCCCTGTCCACCAGGCAG A	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1329626	C C	CTCTGCTT others(22): Show CTCTGCTTGGTGGACAGGGCCTCAGGACTA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0303 a0001c0001t0002g0303	1	370	0.0027	29	c.108 others(46): Show c.1080+653_1080+654insTAGTCCTGAGGCCCTGTCCACCAAGCAG A	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1329655	C C	CTCTGCCT others(22): Show CTCTGCCTGGTGGACAGGGCCTCAGGACTA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0307	1	370	0.0027	29	c.108 others(46): Show c.1080+624_1080+625insTAGTCCTGAGGCCCTGTCCACCAGGCAG A	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1329817	G G	GGCCTCAG others(22): Show GGCCTCAGGACTCTCTGCTTGGTGGACAGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp1 HG02258.hp2 others(2): Show HG01243.hp2 HG02055.hp1 HG02258.hp2 HG02559.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0247 a0001c0001t0002g0266 a0001c0001t0002g0267 others(2): Show a0001c0001t0002g0247 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0280 a0001c0001t0002g0282	5	370	0.0135	29	c.108 others(46): Show c.1080+462_1080+463insTCTGTCCACCAAGCAGAGAGTCCTGAGG C	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1329904	A A	AGCCTCAG others(22): Show AGCCTCAGGACTCTCTGCTTGGTGGACAGG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03209.hp1 HG06807.hp2 others(1): Show HG02622.hp2 HG03209.hp1 HG06807.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0116 a0001c0001t0003g0342 a0001c0001t0003g0344 others(1): Show a0001c0001t0001g0116 a0001c0001t0003g0342 a0001c0001t0003g0344 a0001c0001t0003g0345	4	370	0.0108	29	c.108 others(46): Show c.1080+347_1080+375dupCCTGTCCACCAAGCAGAGAGTCCTGAGG C	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLRN1_chr3_150921567_150977727	150969313	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	408	0.0025	29	c.253 others(46): Show c.253+3142_253+3143insATATATATATATATATATATATATATAT A	CLRN1	ENSG00000163646.12	transcript	ENST00000327047.6	protein_coding	1/2			chr3	TogoVar
CLSTN1_chr1_9723926_9828965	9776862	T T	TTATCTAT others(22): Show TTATCTATCATCTATCAGCATTTATCTATC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01891.hp2 HG02451.hp1 others(4): Show HG00733.hp2 HG01891.hp2 HG02451.hp1 HG02897.hp2 HG03041.hp2 HG03486.hp1 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0109 a0001c0003t0004g0110 a0001c0003t0004g0111 others(4): Show a0001c0003t0004g0109 a0001c0003t0004g0110 a0001c0003t0004g0111 a0001c0003t0004g0113 a0001c0003t0004g0114 a0001c0003t0004g0118 a0001c0003t0004g0123	7	270	0.0259	29	c.92- others(44): Show c.92-3469_92-3468insGATAGATAAATGCTGATAGATGATAGATA	CLSTN1	ENSG00000171603.18	transcript	ENST00000377298.9	protein_coding	1/18			chr1	TogoVar
CLTA_chr9_36185921_36217059	36216354	T T	TGTGTGTG others(22): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	400	0.0025	29	c.45 others(40): Show c.4580_*4581insGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	CLTA	ENSG00000122705.18	transcript	ENST00000345519.10	protein_coding		4296		chr9	TogoVar
CLTCL1_chr22_19174473_19296719	19190596	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02965.hp1 HG03225.hp2 HG02572.hp1 HG02965.hp1 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0118 a0001c0004t0004g0119 a0001c0004t0004g0315 a0001c0004t0004g0118 a0001c0004t0004g0119 a0001c0004t0004g0315	3	346	0.0087	29	c.432 others(46): Show c.4323+707_4323+708insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	27/32			chr22	TogoVar
CLTCL1_chr22_19174473_19296719	19212575	A A	AAGAAGAG others(22): Show AAGAAGAGAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02083.hp1 HG02735.hp2 others(12): Show HG02080.hp1 HG02083.hp1 HG02735.hp2 HG03654.hp1 NA18947.hp2 NA18957.hp2 NA18977.hp2 NA18984.hp2 NA18989.hp2 NA19000.hp1 NA19012.hp2 NA19054.hp2 NA19065.hp2 NA19072.hp2 NA19077.hp1	a0005 a0010 a0005 a0010	a0005c0007 a0010c0016 a0005c0007 a0010c0016	a0005c0007t0006 a0010c0016t0006 a0005c0007t0006 a0010c0016t0006	a0005c0007t0006g0298 a0005c0007t0006g0299 a0005c0007t0006g0300 others(12): Show a0005c0007t0006g0298 a0005c0007t0006g0299 a0005c0007t0006g0300 a0005c0007t0006g0301 a0005c0007t0006g0302 a0005c0007t0006g0303 a0005c0007t0006g0304 a0005c0007t0006g0305 a0005c0007t0006g0306 a0005c0007t0006g0307 a0005c0007t0006g0308 a0005c0007t0006g0309 a0005c0007t0006g0310 a0010c0016t0006g0311 a0010c0016t0006g0312	15	346	0.0434	29	c.306 others(48): Show c.3066-2067_3066-2066insCTTTCTTTCTTTCTTTCTTTCTCTCT TCT	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	19/32			chr22	TogoVar
CLUAP1_chr16_3496004_3544048	3529803	T T	TATATATT others(22): Show TATATATTATATAATATATATTATATTATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	382	0.0026	29	c.929 others(44): Show c.929-759_929-758insTATATAATATATATTATATTATAATATAT	CLUAP1	ENSG00000103351.13	transcript	ENST00000576634.6	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLUL1_chr18_591988_655182	627023	G G	GAGAGAGA others(22): Show GAGAGAGAAAAGAAGAAAGAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA19070.hp2 HG00639.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0300 a0001c0001t0001g0078 a0001c0001t0001g0300	2	414	0.0048	29	c.424 others(42): Show c.424-73_424-72insGAGAGAAAAGAAGAAAGAGAAAGAAAGAA	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CLUL1_chr18_591988_655182	627030	A A	AGAAGAAA others(22): Show AGAAGAAAGAGAAAGAAAGAAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0385 a0001c0001t0001g0385	1	414	0.0024	29	c.424 others(42): Show c.424-67_424-66insGAAGAAAGAGAAAGAAAGAAAAGAAAAAG	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9			chr18	TogoVar
CLVS2_chr6_122991235_123077925	123075325	C C	CTTTCTTT others(22): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0164 a0001c0001t0057g0164	1	336	0.0030	29	c.11 others(42): Show c.11564_*11565insTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CLVS2	ENSG00000146352.13	transcript	ENST00000275162.10	protein_coding		2401		chr6	TogoVar
CMC2_chr16_80961448_81011885	80965190	A A	ATATATAT others(22): Show ATATATATATATATGCATATATATATATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0252 a0001c0001t0044g0252	1	408	0.0025	29	c.10 others(42): Show c.10902_*10903insACATATATATATATGCATATATATATATA	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		1257		chr16	TogoVar
CMPK1_chr1_47328790_47383839	47380250	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0085 a0002c0002t0001g0085	1	364	0.0028	29	c.35 others(40): Show c.3505_*3506insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CMPK1	ENSG00000162368.15	transcript	ENST00000371873.10	protein_coding		1412		chr1	TogoVar
CMTM8_chr3_32233680_32375321	32319074	A A	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	344	0.0029	29	c.148 others(48): Show c.148-38298_148-38297insATATATATATATATATATATATTTTT TTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNBD1_chr8_86861415_87387859	87129069	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	152	0.0066	29	c.432 others(48): Show c.432-76902_432-76901insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87136512	T T	TTTTATAT others(22): Show TTTTATATTATATATAAATTATATATTATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01192.hp1 HG01981.hp1 others(10): Show HG00609.hp1 HG01192.hp1 HG01981.hp1 HG01981.hp2 HG02630.hp1 HG02683.hp2 HG02886.hp1 HG02970.hp1 HG03195.hp2 HG03453.hp1 NA18906.hp2 NA19043.hp1 NA20129.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0001 a0006c0009t0001 a0001c0001t0001 a0006c0009t0001	a0001c0001t0001g0014 a0001c0001t0001g0041 a0001c0001t0001g0043 others(10): Show a0001c0001t0001g0014 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0143 a0006c0009t0001g0089	13	152	0.0855	29	c.432 others(48): Show c.432-69329_432-69301dupTTATATATAAATTATATATTATATTT ATA	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNGB1_chr16_57877340_57976128	57879787	T T	TTCTTTCT others(22): Show TTCTTTCTTTCTTTTTCTTTCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02074.hp1 HG02258.hp2 others(7): Show HG02015.hp1 HG02074.hp1 HG02258.hp2 HG03492.hp1 NA18747.hp1 NA18955.hp2 NA18957.hp1 NA18966.hp2 NA19054.hp1 NA19077.hp2	a0001 a0002 a0030 others(1): Show a0001 a0002 a0030 a0044	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0002c0006 a0030c0092 a0044c0089	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0002c0006t0001 a0030c0092t0001 a0044c0089t0001	a0001c0001t0001g0003 a0001c0001t0001g0233 a0001c0002t0001g0035 others(7): Show a0001c0001t0001g0003 a0001c0001t0001g0233 a0001c0002t0001g0035 a0001c0002t0001g0181 a0001c0004t0001g0115 a0001c0004t0001g0138 a0002c0006t0001g0017 a0002c0006t0001g0019 a0030c0092t0001g0285 a0044c0089t0001g0257	10	360	0.0278	29	c.43 others(40): Show c.4376_*4377insGAAAGGAAAGAAAGAAAAAGAAAGAAAGA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2552		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57879787	T T	TTCTTTTT others(22): Show TTCTTTTTCTTTCTTTCCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	360	0.0028	29	c.43 others(40): Show c.4376_*4377insGAAAGAAAGAAAGGAAAGAAAGAAAAAGA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2552		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57879811	T T	TCCTTCCT others(22): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0082 a0002c0005t0002g0082	1	360	0.0028	29	c.43 others(40): Show c.4352_*4353insGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2528		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57879827	T T	TCCTTCCT others(22): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0007 a0007	a0007c0021 a0007c0021	a0007c0021t0014 a0007c0021t0014	a0007c0021t0014g0088 a0007c0021t0014g0088	1	360	0.0028	29	c.43 others(40): Show c.4336_*4337insGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2512		chr16	TogoVar
CNKSR3_chr6_154382515_154515685	154415228	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0120 a0001c0002t0120	a0001c0002t0120g0237 a0001c0002t0120g0237	1	342	0.0029	29	c.946 others(44): Show c.946-806_946-805insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding	9/12			chr6	TogoVar
CNOT10_chr3_32680188_32778875	32754489	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	354	0.0028	29	c.159 others(48): Show c.1596-4968_1596-4967insAAAAATATATATATATATATATATAT ATA	CNOT10	ENSG00000182973.20	transcript	ENST00000328834.10	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT10_chr3_32680188_32778875	32754489	A A	AAATATAT others(22): Show AAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	354	0.0028	29	c.159 others(48): Show c.1596-4968_1596-4967insATATATATATATATATATATATATAT ATA	CNOT10	ENSG00000182973.20	transcript	ENST00000328834.10	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT10_chr3_32680188_32778875	32754489	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	354	0.0028	29	c.159 others(48): Show c.1596-4969_1596-4968insTATATATATATATATATATATATATA TAT	CNOT10	ENSG00000182973.20	transcript	ENST00000328834.10	protein_coding	13/18			chr3	TogoVar
CNOT3_chr19_54132762_54160681	54133726	T T	TACCTCCT others(22): Show TACCTCCTCTCTCTCTCCCTCCCTCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01071.hp2 HG00099.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0001 a0001c0001t0001 a0001c0013t0001	a0001c0001t0001g0059 a0001c0013t0001g0136 a0001c0001t0001g0059 a0001c0013t0001g0136	2	223	0.0090	29	c.-43 others(40): Show c.-4318_-4317insACCTCCTCTCTCTCTCCCTCCCTCTCTCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		4035		chr19	TogoVar
CNOT3_chr19_54132762_54160681	54133749	T T	TCTCTCCA others(22): Show TCTCTCCACCTCCCCTCTCTCTCTTCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 NA18986.hp2 HG00735.hp2 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0140 a0001c0003t0001g0101 a0001c0002t0001g0140 a0001c0003t0001g0101	2	223	0.0090	29	c.-42 others(40): Show c.-4295_-4294insCTCTCCACCTCCCCTCTCTCTCTTCCTCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		4012		chr19	TogoVar
CNOT3_chr19_54132762_54160681	54150569	T T	TGCCCAGG others(22): Show TGCCCAGGCTGTCCAGGAGGCAGTGTGCGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(53): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG01074.hp2 HG01081.hp1 HG01123.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01978.hp2 HG02015.hp2 HG02040.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02293.hp2 HG02622.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03486.hp2 HG03492.hp1 HG03492.hp2 NA18612.hp2 NA18943.hp2 NA18945.hp2 NA18964.hp1 NA18964.hp2 NA18971.hp1 NA18979.hp1 NA18986.hp2 NA18997.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19057.hp2 NA19064.hp2 NA19074.hp2 NA19078.hp1 NA19084.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0009t0001	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0012 others(39): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0003g0103 a0001c0002t0001g0022 a0001c0003t0001g0020 a0001c0003t0001g0089 a0001c0003t0001g0092 a0001c0003t0001g0094 a0001c0003t0001g0101 a0001c0003t0001g0110 a0001c0004t0001g0004 a0001c0009t0001g0104	56	223	0.2511	29	c.160 others(46): Show c.1605+857_1605+885dupAGGCAGTGTGCGCGCCCAGGCTGTCCAG G	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNOT6L_chr4_77708387_77824368	77807276	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02896.hp2 HG01243.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0179 a0001c0001t0010g0087 a0001c0001t0001g0179 a0001c0001t0010g0087	2	328	0.0061	29	c.5+1 others(44): Show c.5+12027_5+12028insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	1/11			chr4	TogoVar
CNPY1_chr7_155496129_155551559	155527054	C C	CTTTCTTT others(22): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0087 a0001c0001t0010g0087	1	426	0.0024	29	c.100 others(48): Show c.100-17958_100-17957insAGAAAGAAAGAAAGAAAGAAAGAAAG AAA	CNPY1	ENSG00000146910.14	transcript	ENST00000636446.2	protein_coding	2/4			chr7	TogoVar
CNPY1_chr7_155496129_155551559	155527057	T T	TCTTTCTT others(22): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	426	0.0024	29	c.100 others(48): Show c.100-17961_100-17960insGAAAGAAAGAAAGAAAGAAAGAAAGA AAG	CNPY1	ENSG00000146910.14	transcript	ENST00000636446.2	protein_coding	2/4			chr7	TogoVar
CNR2_chr1_23865515_23918362	23896287	G G	GGCTCTGC others(22): Show GGCTCTGCCAAGTACTATTAGCTTTTTGTT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0201 a0002c0002t0002g0201	1	268	0.0037	29	c.-46 others(48): Show c.-46+16930_-46+16958dupAACAAAAAGCTAATAGTACTTGGCAG AGC	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNTN1_chr12_40687439_41077415	40844069	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA18974.hp1 NA19007.hp1 others(1): Show HG01074.hp2 NA18974.hp1 NA19007.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001	a0001c0001t0002g0146 a0001c0001t0006g0139 a0001c0002t0001g0032 others(1): Show a0001c0001t0002g0146 a0001c0001t0006g0139 a0001c0002t0001g0032 a0001c0002t0001g0092	4	230	0.0174	29	c.-76 others(48): Show c.-76-64272_-76-64271insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN4_chr3_2093866_3062959	2864740	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA18906.hp1 HG02622.hp1 NA18906.hp1	a0002 a0002	a0002c0014 a0002c0015 a0002c0014 a0002c0015	a0002c0014t0001 a0002c0015t0003 a0002c0014t0001 a0002c0015t0003	a0002c0014t0001g0016 a0002c0015t0003g0103 a0002c0014t0001g0016 a0002c0015t0003g0103	2	116	0.0172	29	c.455 others(46): Show c.455-1997_455-1996insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN5_chr11_99015949_100363885	99338923	T T	TATATATA others(22): Show TATATATATATATATATATATATATCTGTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0010 a0005c0005t0010	a0005c0005t0010g0006 a0005c0005t0010g0006	1	66	0.0152	29	c.-71 others(48): Show c.-71+13448_-71+13476dupATATATATATATATATCTGTGATATA TAT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99358255	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03041.hp1 HG03471.hp1 others(1): Show HG01496.hp1 HG03041.hp1 HG03471.hp1 NA19070.hp2	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0009	a0001c0001 a0002c0002 a0008c0008 others(1): Show a0001c0001 a0002c0002 a0008c0008 a0009c0012	a0001c0001t0014 a0002c0002t0021 a0008c0008t0007 others(1): Show a0001c0001t0014 a0002c0002t0021 a0008c0008t0007 a0009c0012t0008	a0001c0001t0014g0016 a0002c0002t0021g0055 a0008c0008t0007g0038 others(1): Show a0001c0001t0014g0016 a0002c0002t0021g0055 a0008c0008t0007g0038 a0009c0012t0008g0026	4	66	0.0606	29	c.-71 others(48): Show c.-71+32791_-71+32792insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr11	TogoVar

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