Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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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
CLSTN2_chr3_139930185_140582397	140353220	A A	AATATATA others(23): Show AATATATATATGTATGTTTACACATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0085 a0002c0004t0007g0085	1	110	0.0091	30	c.233 others(49): Show c.233-50398_233-50369dupGTATGTTTACACATATATATATATAT ATAT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140419650	C C	CACGTATA others(23): Show CACGTATATATACATATATGAATATGTATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0082 a0001c0001t0035g0082	1	110	0.0091	30	c.638 others(47): Show c.638-1462_638-1433dupATATATGAATATGTATATACGTATATAT AC	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLTA_chr9_36185921_36217059	36216327	A A	ATGTGTGT others(23): Show ATGTGTGTGTGTGTGTGCGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp2 NA19091.hp2 NA18984.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	400	0.0050	30	c.45 others(41): Show c.4553_*4554insTGTGTGTGTGTGTGTGCGTGTGTGTGTGTG	CLTA	ENSG00000122705.18	transcript	ENST00000345519.10	protein_coding		4269		chr9	TogoVar
CLTA_chr9_36185921_36217059	36216327	A A	ATGTGTGT others(23): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG03540.hp1 HG02735.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0007 a0001c0002t0003g0003 a0001c0001t0001g0007 a0001c0002t0003g0003	2	400	0.0050	30	c.45 others(41): Show c.4553_*4554insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	CLTA	ENSG00000122705.18	transcript	ENST00000345519.10	protein_coding		4269		chr9	TogoVar
CLTCL1_chr22_19174473_19296719	19190596	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA19084.hp2 HG02622.hp1 NA19084.hp2	a0001 a0022 a0001 a0022	a0001c0004 a0022c0023 a0001c0004 a0022c0023	a0001c0004t0004 a0022c0023t0004 a0001c0004t0004 a0022c0023t0004	a0001c0004t0004g0258 a0022c0023t0004g0314 a0001c0004t0004g0258 a0022c0023t0004g0314	2	346	0.0058	30	c.432 others(47): Show c.4323+707_4323+708insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	27/32			chr22	TogoVar
CLUL1_chr18_591988_655182	627009	A A	AAGAGAGA others(23): Show AAGAGAGAGAAAGAAAGAGAAAAGAAGAAAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01081.hp1 HG01192.hp2 others(2): Show HG00323.hp2 HG01081.hp1 HG01192.hp2 NA18994.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0189 a0001c0001t0001g0193 others(2): Show a0001c0001t0001g0087 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0219 a0001c0001t0001g0390	5	414	0.0121	30	c.424 others(43): Show c.424-85_424-84insGAGAGAAAGAAAGAGAAAAGAAGAAAGAGA	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CLUL1_chr18_591988_655182	627009	A A	AAGAGAGA others(23): Show AAGAGAGAGAAGGAAAGAGAAAAGAAGAAAG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0317 a0003c0006t0004g0317	1	414	0.0024	30	c.424 others(43): Show c.424-85_424-84insGAGAGAAGGAAAGAGAAAAGAAGAAAGAGA	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CLUL1_chr18_591988_655182	627013	A A	AAGAGAGA others(23): Show AAGAGAGAGAAAGAAAGAGAAAAGAAGAAAG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00733.hp1 NA18946.hp2 HG00597.hp2 HG00733.hp1 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0226 a0001c0001t0001g0287 a0001c0001t0002g0323 a0001c0001t0001g0226 a0001c0001t0001g0287 a0001c0001t0002g0323	3	414	0.0073	30	c.424 others(43): Show c.424-81_424-80insGAGAGAAAGAAAGAGAAAAGAAGAAAGAGA	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CLUL1_chr18_591988_655182	627030	A A	AAGAAGAA others(23): Show AAGAAGAAAGAGAAAGAAAGAAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG03492.hp2 NA18957.hp1 others(2): Show HG02148.hp1 HG03492.hp2 NA18957.hp1 NA19005.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0199 others(2): Show a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0199 a0001c0001t0001g0397 a0001c0001t0002g0334	5	414	0.0121	30	c.424 others(43): Show c.424-63_424-62insGAAAGAGAAAGAAAGAAAAGAAAAAGAGAA	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CLU_chr8_27591917_27619700	27593372	A A	AGTTACGT others(23): Show AGTTACGTTACGTTACGTTACGTTACGTTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 NA19081.hp1 HG02071.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0026 a0001c0001t0002g0185 a0001c0001t0001g0026 a0001c0001t0002g0185	2	458	0.0044	30	c.48 others(41): Show c.4868_*4869insGTAACGTAACGTAACGTAACGTAACGTAAC	CLU	ENSG00000120885.22	transcript	ENST00000316403.15	protein_coding		3544		chr8	TogoVar
CLVS2_chr6_122991235_123077925	123040769	A A	AAAAAGAA others(23): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18972.hp2 NA18998.hp1 others(4): Show NA18906.hp2 NA18972.hp2 NA18998.hp1 NA18999.hp2 NA19030.hp1 NA19076.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0043	a0001c0001t0001g0082 a0001c0001t0002g0229 a0001c0001t0012g0051 others(4): Show a0001c0001t0001g0082 a0001c0001t0002g0229 a0001c0001t0012g0051 a0001c0001t0012g0058 a0001c0001t0012g0059 a0001c0001t0043g0202 a0001c0001t0043g0234	7	336	0.0208	30	c.565 others(47): Show c.565-7845_565-7816dupAAGAAAAGAAAAGAAAAGAAAAGAAAAG AA	CLVS2	ENSG00000146352.13	transcript	ENST00000275162.10	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
CMC1_chr3_28236619_28330142	28258060	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0260 a0001c0001t0010g0260	1	338	0.0030	30	c.20- others(45): Show c.20-5205_20-5204insTATATATATATATATATATATATATATATA	CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMC2_chr16_80961448_81011885	80971599	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02145.hp1 others(8): Show HG01167.hp2 HG01169.hp2 HG02145.hp1 HG02630.hp1 HG02818.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03225.hp2 HG03453.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0044 a0001c0001t0057 others(3): Show a0001c0001t0010 a0001c0001t0044 a0001c0001t0057 a0001c0001t0127 a0001c0001t0129 a0001c0001t0132	a0001c0001t0010g0004 a0001c0001t0010g0057 a0001c0001t0044g0252 others(5): Show a0001c0001t0010g0004 a0001c0001t0010g0057 a0001c0001t0044g0252 a0001c0001t0044g0254 a0001c0001t0057g0055 a0001c0001t0127g0176 a0001c0001t0129g0236 a0001c0001t0132g0272	11	408	0.0270	30	c.44 others(41): Show c.4493_*4494insATATATATATATATATATATATATATATAT	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding	4/4	4493		chr16	TogoVar
CMIP_chr16_81439808_81716762	81667799	A A	AGAGAGAG others(23): Show AGAGAGAGAGAGAGAGAGAGAGAGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0043 a0001c0005t0043	a0001c0005t0043g0252 a0001c0005t0043g0252	1	268	0.0037	30	c.826 others(47): Show c.826-2342_826-2341insAGAGAGAGAGAGAGAGAGAGAGTGTGTG TG	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81667799	A A	AGAGAGAG others(23): Show AGAGAGAGAGAGAGAGAGAGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0070 a0001c0001t0017g0070	1	268	0.0037	30	c.826 others(47): Show c.826-2342_826-2341insAGAGAGAGAGAGAGAGAGTGTGTGTGTG TG	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMSS1_chr3_99812862_100186732	100117878	T T	TATATATA others(23): Show TATATATATACACATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	232	0.0043	30	c.65- others(47): Show c.65-29094_65-29093insTATATATACACATATATATATATATATA CA	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM4_chr16_66609750_66701743	66683189	A A	ATACGTAT others(23): Show ATACGTATATATATATATATATATATATACG	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0014 a0001c0001t0007g0014	1	320	0.0031	30	c.186 others(49): Show c.186+13150_186+13151insCGTATATATATATATATATATATATA CGTA	CMTM4	ENSG00000183723.13	transcript	ENST00000394106.7	protein_coding	1/3			chr16	TogoVar
CMTM7_chr3_32386853_32460528	32430681	A A	ATGTGTGT others(23): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	368	0.0027	30	c.160 others(49): Show c.160-11154_160-11125dupTGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	CMTM7	ENSG00000153551.14	transcript	ENST00000334983.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32319074	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	344	0.0029	30	c.148 others(49): Show c.148-38298_148-38297insATATATATATATATATATATATATTT TTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32319074	A A	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0021 a0003c0002t0001g0021	1	344	0.0029	30	c.148 others(49): Show c.148-38298_148-38297insATATATATATATATATATATATTTTT TTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32319074	A A	ATATATAT others(23): Show ATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	344	0.0029	30	c.148 others(49): Show c.148-38298_148-38297insATATATATATATATATATTTTTTTTT TTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32319074	A A	ATATATAT others(23): Show ATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0195 a0003c0002t0001g0195	1	344	0.0029	30	c.148 others(49): Show c.148-38298_148-38297insATATATATATATATTTTTTTTTTTTT TTTT	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(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA19002.hp1 HG02809.hp2 NA19002.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0053 a0003c0004t0001g0148 a0001c0001t0001g0053 a0003c0004t0001g0148	2	152	0.0132	30	c.432 others(49): Show c.432-76902_432-76901insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87190877	A A	ATACATGT others(23): Show ATACATGTACCTATATCTATTTAGATATAGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00741.hp2 others(33): Show HG00099.hp2 HG00140.hp2 HG00741.hp2 HG01070.hp2 HG01099.hp2 HG01192.hp2 HG01243.hp1 HG01257.hp1 HG01981.hp2 HG02055.hp1 HG02451.hp1 HG02451.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03516.hp2 HG03688.hp1 HG04204.hp1 NA18906.hp2 NA19043.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0001c0008 others(2): Show a0001c0001 a0001c0006 a0001c0008 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0006t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0006t0001 a0001c0008t0001 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 others(33): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0003g0134 a0001c0006t0001g0040 a0001c0006t0001g0098 a0001c0008t0001g0147 a0002c0002t0001g0080 a0002c0002t0001g0090 a0003c0004t0001g0148	36	152	0.2368	30	c.432 others(49): Show c.432-15107_432-15106insCTATATCTATTTAGATATAGGTACAT GTAC	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNDP1_chr18_74529500_74592212	74590360	G G	GCCCCCCC others(23): Show GCCCCCCCCCTCCCCCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0016 a0001c0001t0031g0016	1	390	0.0026	30	c.57 others(41): Show c.5798_*5799insCCCCCCCCCTCCCCCCCCCCCCCCCCCCCC	CNDP1	ENSG00000150656.15	transcript	ENST00000358821.8	protein_coding		3149		chr18	TogoVar
CNGA2_chrX_151729746_151750564	151743041	T T	TGTGTGTG others(23): Show TGTGTGTGTATACACACACACATATATATAC	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	336	0.0030	30	c.590 others(43): Show c.590-52_590-51insGTGTGTGTATACACACACACATATATATAC	CNGA2	ENSG00000183862.6	transcript	ENST00000329903.5	protein_coding	6/6			chrX	TogoVar
CNGB1_chr16_57877340_57976128	57879799	C C	CTTTCTTT others(23): Show CTTTCTTTTTCTTTCTTTCCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0335 a0001c0015t0001g0335	1	360	0.0028	30	c.43 others(41): Show c.4364_*4365insAAAGAAAGAAAGGAAAGAAAGAAAAAGAAA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2540		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57879799	C C	CTTTTTCT others(23): Show CTTTTTCTTTCTTTCCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0306 a0001c0013t0001g0306	1	360	0.0028	30	c.43 others(41): Show c.4364_*4365insAAAGAAAGAAAGAAAGGAAAGAAAGAAAAA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2540		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57885557	C C	CCTCTCTC others(23): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0008 a0008	a0008c0032 a0008c0032	a0008c0032t0002 a0008c0032t0002	a0008c0032t0002g0269 a0008c0032t0002g0269	1	360	0.0028	30	c.346 others(49): Show c.3463-1101_3463-1100insAGAGAGAGAGAGAGAGAGAGAGAGAG AGAG	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding	32/32			chr16	TogoVar
CNKSR2_chrX_21369418_21659689	21635406	G G	GTATATAT others(23): Show GTATATATACACATATATATGTATATGTGTA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	163	0.0061	30	c.269 others(51): Show c.2693-13424_2693-13423insATATATACACATATATATGTATAT GTGTAT	CNKSR2	ENSG00000149970.16	transcript	ENST00000379510.5	protein_coding	20/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
CNKSR3_chr6_154382515_154515685	154382571	A A	AGGGAGGG others(23): Show AGGGAGGGCAGGGGAGGGGAGGGGAGGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02486.hp1 HG02559.hp2 others(2): Show HG01243.hp1 HG02486.hp1 HG02559.hp2 HG02630.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0059 a0001c0001t0199 a0001c0002t0162 others(2): Show a0001c0001t0059 a0001c0001t0199 a0001c0002t0162 a0001c0005t0119 a0001c0005t0197	a0001c0001t0059g0042 a0001c0001t0199g0338 a0001c0002t0162g0297 others(2): Show a0001c0001t0059g0042 a0001c0001t0199g0338 a0001c0002t0162g0297 a0001c0005t0119g0298 a0001c0005t0197g0336	5	342	0.0146	30	c.23 others(43): Show c.23782_*23783insCTCCCCTCCCCTCCCCTCCCCTGCCCTCCC	CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding		4943		chr6	TogoVar
CNKSR3_chr6_154382515_154515685	154382579	C C	CAGGGGAG others(23): Show CAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0061 a0001c0001t0030g0061	1	342	0.0029	30	c.23 others(43): Show c.23774_*23775insCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT	CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding		4935		chr6	TogoVar
CNKSR3_chr6_154382515_154515685	154382594	G G	GAGGGCAG others(23): Show GAGGGCAGGGGAGGGCAGGGGAGGGGAGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0021 a0001c0001t0049g0021	1	342	0.0029	30	c.23 others(43): Show c.23759_*23760insGCCCTCCCCTCCCCTGCCCTCCCCTGCCCT	CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding		4920		chr6	TogoVar
CNMD_chr13_52698264_52744820	52701802	G G	GACACACA others(23): Show GACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG00642.hp2 others(14): Show HG00408.hp1 HG00597.hp2 HG00642.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp1 HG01346.hp1 HG01884.hp1 HG02300.hp1 HG03139.hp1 HG03239.hp1 HG04199.hp2 NA18965.hp2 NA18968.hp1 NA18981.hp1 NA19009.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0044 others(11): Show a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0001g0153 a0001c0001t0001g0169 a0001c0001t0001g0176 a0001c0001t0001g0187 a0001c0001t0001g0216 a0001c0001t0001g0224 a0001c0001t0002g0200 a0001c0001t0006g0033	17	330	0.0515	30	c.17 others(41): Show c.1792_*1793insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	CNMD	ENSG00000136110.13	transcript	ENST00000377962.8	protein_coding		1461		chr13	TogoVar
CNNM1_chr10_99324356_99399330	99347576	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01517.hp2 NA19009.hp1 NA19075.hp2 HG01517.hp2 NA19009.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0005t0003 a0001c0001t0001 a0001c0005t0001 a0001c0005t0003	a0001c0001t0001g0128 a0001c0005t0001g0108 a0001c0005t0003g0107 a0001c0001t0001g0128 a0001c0005t0001g0108 a0001c0005t0003g0107	3	320	0.0094	30	c.157 others(49): Show c.1574-9913_1574-9912insCACACACACACACACACACACACACA CACA	CNNM1	ENSG00000119946.12	transcript	ENST00000356713.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM1_chr10_99324356_99399330	99356562	C C	CAGAAAGA others(23): Show CAGAAAGAAAGAAAGAAAAGAAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00609.hp2 others(18): Show HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG01074.hp2 HG01109.hp1 HG01981.hp2 HG02055.hp2 HG02083.hp2 HG02273.hp1 HG02698.hp1 HG02698.hp2 HG03688.hp1 NA18747.hp1 NA18945.hp2 NA18995.hp1 NA18995.hp2 NA19009.hp1 NA19066.hp1 NA19067.hp2 NA19075.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0005 a0002c0003 others(1): Show a0001c0001 a0001c0005 a0002c0003 a0004c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0005t0001 a0001c0005t0003 a0002c0003t0001 a0004c0012t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0043 others(18): Show a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0058 a0001c0001t0001g0068 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0129 a0001c0001t0003g0067 a0001c0001t0003g0073 a0001c0001t0003g0098 a0001c0001t0005g0066 a0001c0001t0009g0099 a0001c0005t0001g0103 a0001c0005t0001g0108 a0001c0005t0003g0107 a0002c0003t0001g0084 a0004c0012t0001g0012	21	320	0.0656	30	c.157 others(47): Show c.1574-933_1574-932insAGAAAAGAAAGAAAGAAAGAAAGAAAGA AA	CNNM1	ENSG00000119946.12	transcript	ENST00000356713.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM1_chr10_99324356_99399330	99356562	C C	CAGAAAGA others(23): Show CAGAAAGAAAGAAAGAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0024 a0005c0010t0024	a0005c0010t0024g0050 a0005c0010t0024g0050	1	320	0.0031	30	c.157 others(47): Show c.1574-929_1574-928insAGAAAAGAAAGAAAGAAAGAAAGAAAGA AA	CNNM1	ENSG00000119946.12	transcript	ENST00000356713.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	103072455	A A	ACCACCAG others(23): Show ACCACCAGGCAGGCGACCCCGCTTCTCCCCG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	270	0.0037	30	c.223 others(47): Show c.2233+675_2233+704dupCGCCACCAGGCAGGCGACCCCGCTTCTC CC	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNOT10_chr3_32680188_32778875	32754489	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	354	0.0028	30	c.159 others(49): Show c.1596-4968_1596-4967insAAAAAAAAAAAAAAAAAATATATATA TATA	CNOT10	ENSG00000182973.20	transcript	ENST00000328834.10	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT10_chr3_32680188_32778875	32754489	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18974.hp1 NA18983.hp1 NA18946.hp1 NA18974.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0198 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0198	3	354	0.0085	30	c.159 others(49): Show c.1596-4968_1596-4967insAAAAAAAATATATATATATATATATA TATA	CNOT10	ENSG00000182973.20	transcript	ENST00000328834.10	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT10_chr3_32680188_32778875	32754489	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02630.hp1 NA18969.hp2 HG00438.hp2 HG02630.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0182 a0001c0001t0001g0202 a0001c0001t0001g0166 a0001c0001t0001g0182 a0001c0001t0001g0202	3	354	0.0085	30	c.159 others(49): Show c.1596-4968_1596-4967insAAAATATATATATATATATATATATA TATA	CNOT10	ENSG00000182973.20	transcript	ENST00000328834.10	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT3_chr19_54132762_54160681	54133878	C C	CCCCTCTC others(23): Show CCCCTCTCTCCACCTCCCCTCACTCCACCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03486.hp2 HG03041.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0149 a0001c0001t0001g0150	2	223	0.0090	30	c.-41 others(41): Show c.-4166_-4165insCCCTCTCTCCACCTCCCCTCACTCCACCTT	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3883		chr19	TogoVar
CNOT3_chr19_54132762_54160681	54133893	C C	CCCTCACT others(23): Show CCCTCACTCCTCCCTCTCTCCTCCCTCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	223	0.0045	30	c.-41 others(41): Show c.-4151_-4150insCCTCACTCCTCCCTCTCTCCTCCCTCCCCT	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3868		chr19	TogoVar
CNOT3_chr19_54132762_54160681	54142433	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp1 HG01123.hp1 others(6): Show HG00280.hp1 HG00735.hp1 HG01123.hp1 HG01257.hp1 HG02040.hp2 HG02886.hp2 HG03834.hp2 NA18981.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0034 a0001c0001t0001g0061 others(4): Show a0001c0001t0001g0010 a0001c0001t0001g0034 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0073 a0001c0001t0001g0074	9	223	0.0404	30	c.-50 others(45): Show c.-50-478_-50-477insACACACACACACACACACACACACACACAC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNOT6L_chr4_77708387_77824368	77807276	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0203 a0001c0001t0005g0203	1	328	0.0031	30	c.5+1 others(45): Show c.5+12027_5+12028insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	1/11			chr4	TogoVar
CNOT6L_chr4_77708387_77824368	77819049	G G	GACACACA others(23): Show GACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18980.hp1 NA19064.hp2 HG00558.hp2 NA18980.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0018g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0018g0281	3	328	0.0092	30	c.5+2 others(41): Show c.5+254_5+255insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	1/11			chr4	TogoVar
CNOT6_chr5_180489379_180583358	180533312	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	334	0.0030	30	c.112 others(47): Show c.112+3926_112+3955dupATATATATATATATATATATATATATAT AT	CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNOT6_chr5_180489379_180583358	180538686	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0095 a0001c0001t0058g0095	1	334	0.0030	30	c.112 others(47): Show c.112+9299_112+9328dupTATATATATATATATATATATATATATA TA	CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNPY1_chr7_155496129_155551559	155527054	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	426	0.0024	30	c.100 others(49): Show c.100-17958_100-17957insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAA	CNPY1	ENSG00000146910.14	transcript	ENST00000636446.2	protein_coding	2/4			chr7	TogoVar
CNPY1_chr7_155496129_155551559	155527054	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0377 a0001c0001t0008g0377	1	426	0.0024	30	c.100 others(49): Show c.100-17958_100-17957insAAAAAAGAAAGAAAGAAAGAAAGAAA GAAA	CNPY1	ENSG00000146910.14	transcript	ENST00000636446.2	protein_coding	2/4			chr7	TogoVar

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