Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CMKLR2_chr2_206170316_206218371	206172917	CGGGAGAG others(11): Show CGGGAGAGGGAGAGGGAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	322	0.0031	-18	c.32 others(29): Show c.3245_*3262delTCTCCCTCTCCCTCTCCC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2398		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206172935	AGGGAGAC others(11): Show AGGGAGACGGGAGAGGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0115 a0002c0004t0001g0115	1	322	0.0031	-18	c.32 others(29): Show c.3227_*3244delCTCCCTCTCCCGTCTCCC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2380		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206207728	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0279 a0001c0001t0002g0279	1	322	0.0031	-18	c.-29 others(35): Show c.-29+5561_-29+5578delAAAAAAAAAAAAAAAAAA	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding	1/1			chr2	TogoVar
CMSS1_chr3_99812862_100186732	99872269	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	232	0.0043	-18	c.64+ others(35): Show c.64+54263_64+54280delTGTGTGTGTGTGTGTGTG	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	99958203	CATTATTA others(11): Show CATTATTATTATTATTATT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	232	0.0043	-18	c.64+ others(37): Show c.64+140191_64+140208delATTATTATTATTATTATT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	100021954	TGTGTGTG others(11): Show TGTGTGTGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp1 HG00741.hp2 others(27): Show HG00323.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01192.hp2 HG01433.hp2 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG02055.hp2 HG02148.hp1 HG02273.hp1 HG02293.hp2 HG02698.hp1 HG02738.hp1 HG03017.hp2 HG03490.hp1 HG03492.hp1 HG03688.hp1 HG03834.hp1 HG03927.hp1 HG04204.hp2 HG04228.hp1 NA18943.hp2 NA18959.hp1 NA18961.hp1 NA18964.hp1 NA18973.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 a0002c0002t0017 a0002c0002t0020	a0001c0001t0001g0132 a0001c0001t0002g0140 a0002c0002t0003g0001 others(26): Show a0001c0001t0001g0132 a0001c0001t0002g0140 a0002c0002t0003g0001 a0002c0002t0003g0109 a0002c0002t0003g0111 a0002c0002t0003g0113 a0002c0002t0003g0114 a0002c0002t0003g0115 a0002c0002t0003g0117 a0002c0002t0003g0118 a0002c0002t0003g0119 a0002c0002t0003g0120 a0002c0002t0003g0121 a0002c0002t0003g0122 a0002c0002t0003g0123 a0002c0002t0003g0124 a0002c0002t0003g0125 a0002c0002t0003g0126 a0002c0002t0003g0127 a0002c0002t0003g0128 a0002c0002t0003g0129 a0002c0002t0003g0130 a0002c0002t0003g0133 a0002c0002t0003g0134 a0002c0002t0003g0135 a0002c0002t0003g0138 a0002c0002t0003g0141 a0002c0002t0017g0131 a0002c0002t0020g0116	30	232	0.1293	-18	c.65- others(37): Show c.65-125017_65-125000delTGTGTGAGAGAGAGAGAG	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	100021956	TGTGTGAG others(11): Show TGTGTGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18963.hp1 NA21309.hp2 NA18612.hp2 NA18963.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0003 a0001c0001t0002 a0002c0002t0003	a0001c0001t0002g0095 a0001c0001t0002g0101 a0002c0002t0003g0139 a0001c0001t0002g0095 a0001c0001t0002g0101 a0002c0002t0003g0139	3	232	0.0129	-18	c.65- others(37): Show c.65-125015_65-124998delTGTGAGAGAGAGAGAGAG	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	100062093	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00741.hp2 HG01943.hp1 others(19): Show HG00140.hp2 HG00741.hp2 HG01943.hp1 HG02055.hp2 HG02148.hp1 HG02273.hp1 HG02698.hp1 HG02738.hp1 HG03490.hp1 HG03492.hp1 HG03654.hp2 HG03688.hp1 HG03834.hp1 HG03927.hp1 HG04228.hp1 NA18943.hp2 NA18959.hp1 NA18961.hp1 NA18964.hp1 NA18970.hp1 NA18973.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0003 a0002c0002t0017 a0001c0001t0002 a0002c0002t0003 a0002c0002t0017	a0001c0001t0002g0108 a0001c0001t0002g0140 a0002c0002t0003g0115 others(19): Show a0001c0001t0002g0108 a0001c0001t0002g0140 a0002c0002t0003g0115 a0002c0002t0003g0119 a0002c0002t0003g0120 a0002c0002t0003g0121 a0002c0002t0003g0122 a0002c0002t0003g0123 a0002c0002t0003g0124 a0002c0002t0003g0125 a0002c0002t0003g0126 a0002c0002t0003g0127 a0002c0002t0003g0128 a0002c0002t0003g0129 a0002c0002t0003g0130 a0002c0002t0003g0133 a0002c0002t0003g0134 a0002c0002t0003g0136 a0002c0002t0003g0137 a0002c0002t0003g0138 a0002c0002t0003g0141 a0002c0002t0017g0131	22	232	0.0948	-18	c.65- others(35): Show c.65-84861_65-84844delTTTTTTTTTTTTTTTTTT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	100115575	GTCTCTCT others(11): Show GTCTCTCTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp2 HG01071.hp1 others(1): Show HG00738.hp1 HG01069.hp2 HG01071.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0003 a0001c0001t0002 a0002c0002t0003	a0001c0001t0002g0072 a0002c0002t0003g0001 a0002c0002t0003g0135 a0001c0001t0002g0072 a0002c0002t0003g0001 a0002c0002t0003g0135	4	232	0.0172	-18	c.65- others(35): Show c.65-31362_65-31345delCTCTCTCTCTCTCTCTCT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	100135438	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02647.hp1 HG02717.hp1 others(1): Show HG00423.hp1 HG02647.hp1 HG02717.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0191 a0001c0001t0005g0142 a0001c0001t0005g0143 others(1): Show a0001c0001t0001g0191 a0001c0001t0005g0142 a0001c0001t0005g0143 a0001c0001t0005g0144	4	232	0.0172	-18	c.65- others(35): Show c.65-11499_65-11482delGTGTGTGTGTGTGTGTGT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM1_chr16_66561439_66584135	66566441	GACGCTGG others(11): Show GACGCTGGTTCCCAGGGGA	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02451.hp2 HG02809.hp1 HG02451.hp2 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0024 a0001c0002t0003g0048 a0001c0002t0003g0024 a0001c0002t0003g0048	2	398	0.0050	-18	c.-72 others(25): Show c.-72_-55delACGCTGGTTCCCAGGGGA	CMTM1	ENSG00000089505.18	transcript	ENST00000379500.7	protein_coding	1/4	55		chr16	TogoVar
CMTM4_chr16_66609750_66701743	66683158	TACGTATA others(11): Show TACGTATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02129.hp1 NA18951.hp1 others(2): Show HG02071.hp2 HG02129.hp1 NA18951.hp1 NA18969.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0029 a0001c0001t0004 a0001c0001t0029	a0001c0001t0004g0055 a0001c0001t0004g0057 a0001c0001t0004g0058 others(2): Show a0001c0001t0004g0055 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0067 a0001c0001t0029g0061	5	320	0.0156	-18	c.186 others(37): Show c.186+13164_186+13181delGTATATATATATATACGT	CMTM4	ENSG00000183723.13	transcript	ENST00000394106.7	protein_coding	1/3			chr16	TogoVar
CMTM4_chr16_66609750_66701743	66683163	ATATATAT others(11): Show ATATATATATATACATATG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18951.hp2 HG03540.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0125 a0001c0001t0001g0116 a0001c0001t0001g0125	2	320	0.0063	-18	c.186 others(37): Show c.186+13159_186+13176delCATATGTATATATATATA	CMTM4	ENSG00000183723.13	transcript	ENST00000394106.7	protein_coding	1/3			chr16	TogoVar
CMTM7_chr3_32386853_32460528	32412480	GACACACA others(11): Show GACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0240	1	368	0.0027	-18	c.159 others(37): Show c.159+20458_159+20475delACACACACACACACACAC	CMTM7	ENSG00000153551.14	transcript	ENST00000334983.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM7_chr3_32386853_32460528	32416361	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0041 a0001c0001t0008g0041	1	368	0.0027	-18	c.159 others(37): Show c.159+24315_159+24332delTTTTTTTTTTTTTTTTTT	CMTM7	ENSG00000153551.14	transcript	ENST00000334983.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM7_chr3_32386853_32460528	32440070	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	368	0.0027	-18	c.160 others(35): Show c.160-1751_160-1734delACACACACACACACACAC	CMTM7	ENSG00000153551.14	transcript	ENST00000334983.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMYA5_chr5_79684836_79805222	79742048	CTCTTCTT others(11): Show CTCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02523.hp1 HG02559.hp1 others(4): Show HG02109.hp2 HG02523.hp1 HG02559.hp1 HG02717.hp1 HG02922.hp1 HG03471.hp1 NA19070.hp2	a0001 a0012 a0064 a0001 a0012 a0064	a0001c0001 a0012c0015 a0012c0074 others(1): Show a0001c0001 a0012c0015 a0012c0074 a0064c0063	a0001c0001t0001 a0012c0015t0004 a0012c0015t0016 others(2): Show a0001c0001t0001 a0012c0015t0004 a0012c0015t0016 a0012c0074t0001 a0064c0063t0003	a0001c0001t0001g0240 a0012c0015t0004g0022 a0012c0015t0004g0023 others(4): Show a0001c0001t0001g0240 a0012c0015t0004g0022 a0012c0015t0004g0023 a0012c0015t0004g0033 a0012c0015t0016g0318 a0012c0074t0001g0345 a0064c0063t0003g0200	7	358	0.0196	-18	c.106 others(39): Show c.10639-1744_10639-1727delCTTCTTCTTCTTCTTCTT	CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNBD1_chr8_86861415_87387859	86874986	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03471.hp1 HG02723.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0004 a0001c0001t0001g0005	2	152	0.0132	-18	c.88+ others(33): Show c.88+8421_88+8438delATATATATATATATATAT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	86925482	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00639.hp1 HG01069.hp2 others(9): Show HG00558.hp1 HG00639.hp1 HG01069.hp2 HG01081.hp1 HG01106.hp1 HG01261.hp1 HG02040.hp2 NA18946.hp2 NA18951.hp2 NA18952.hp1 NA18980.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0101 others(9): Show a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0101 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133	12	152	0.0790	-18	c.273 others(37): Show c.273-14087_273-14070delGTGTGTGTGTGTGTGTGT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87255972	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0002 a0004c0003t0002	a0004c0003t0002g0007 a0004c0003t0002g0007	1	152	0.0066	-18	c.771 others(37): Show c.771+18887_771+18904delATATATATATATATATAT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87255999	ATATATAT others(11): Show ATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18906.hp1 HG03486.hp1 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0015 a0003c0004t0001g0068 a0001c0001t0001g0015 a0003c0004t0001g0068	2	152	0.0132	-18	c.771 others(37): Show c.771+18889_771+18906delATATATATATATATATTT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87256003	ATATATAT others(11): Show ATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG03209.hp2 HG02015.hp2 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0054 a0002c0002t0001g0080 a0001c0001t0001g0054 a0002c0002t0001g0080	2	152	0.0132	-18	c.771 others(37): Show c.771+18893_771+18910delATATATATATATTTTTTT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87256005	ATATATAT others(11): Show ATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	152	0.0066	-18	c.771 others(37): Show c.771+18895_771+18912delATATATATATTTTTTTTT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87281541	GATATATA others(11): Show GATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02630.hp2 HG02451.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0146 a0001c0001t0001g0137 a0001c0001t0001g0146	2	152	0.0132	-18	c.772 others(35): Show c.772-3093_772-3076delTATATATATATATATATA	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBP_chr3_129162827_129188896	129164210	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0187 a0001c0002t0004g0187	1	430	0.0023	-18	c.62 others(29): Show c.6225_*6242delTTTTTTTTTTTTTTTTTT	CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding		3616		chr3	TogoVar
CNBP_chr3_129162827_129188896	129172673	CAGACAGA others(11): Show CAGACAGACAGACAGACAG	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0081 a0001c0001t0010g0081	1	430	0.0023	-18	c.-14 others(33): Show c.-14-920_-14-903delCTGTCTGTCTGTCTGTCT	CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding	1/4			chr3	TogoVar
CNBP_chr3_129162827_129188896	129172677	CAGACAGA others(11): Show CAGACAGACAGACAGACAG	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0368 a0001c0002t0010g0368	1	430	0.0023	-18	c.-14 others(33): Show c.-14-924_-14-907delCTGTCTGTCTGTCTGTCT	CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding	1/4			chr3	TogoVar
CNBP_chr3_129162827_129188896	129172683	GACAGACA others(11): Show GACAGACAGACAGACACAC	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01255.hp1 HG01952.hp1 others(37): Show HG00609.hp2 HG01255.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG02293.hp2 HG02523.hp1 HG03490.hp2 HG03492.hp1 NA18612.hp2 NA18940.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18959.hp1 NA18962.hp2 NA18964.hp2 NA18983.hp1 NA18989.hp1 NA18990.hp2 NA18999.hp1 NA19003.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp2 NA19058.hp2 NA19060.hp1 NA19068.hp1 NA19076.hp1 NA19079.hp2 NA19080.hp2 NA19087.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0025 a0001c0001t0030 a0001c0001t0039	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0027 others(26): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0264 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0287 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0310 a0001c0001t0001g0314 a0001c0001t0001g0318 a0001c0001t0001g0332 a0001c0001t0001g0367 a0001c0001t0003g0266 a0001c0001t0004g0273 a0001c0001t0004g0285 a0001c0001t0004g0289 a0001c0001t0004g0319 a0001c0001t0010g0267 a0001c0001t0025g0297 a0001c0001t0030g0284 a0001c0001t0039g0296	40	430	0.0930	-18	c.-14 others(33): Show c.-14-930_-14-913delGTGTGTCTGTCTGTCTGT	CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding	1/4			chr3	TogoVar
CNDP2_chr18_74491363_74528454	74493839	ACACAGGC others(11): Show ACACAGGCTCCAATACCAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG04204.hp2 NA19001.hp1 HG03704.hp1 HG04204.hp2 NA19001.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0002 a0002c0006t0002 a0001c0001t0002 a0002c0006t0002	a0001c0001t0002g0080 a0002c0006t0002g0066 a0002c0006t0002g0081 a0001c0001t0002g0080 a0002c0006t0002g0066 a0002c0006t0002g0081	3	424	0.0071	-18	c.-26 others(29): Show c.-2684_-2667delCACAGGCTCCAATACCAG	CNDP2	ENSG00000133313.15	transcript	ENST00000324262.9	protein_coding		2523		chr18	TogoVar
CNGA1_chr4_47930977_48021681	47938977	AAAAGAAA others(11): Show AAAAGAAAGAAAGAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03209.hp1 HG03486.hp2 others(1): Show HG02559.hp2 HG03209.hp1 HG03486.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0014 a0001c0001t0001g0297 a0001c0001t0003g0086 a0001c0001t0001g0014 a0001c0001t0001g0297 a0001c0001t0003g0086	4	366	0.0109	-18	c.653 others(35): Show c.653-1166_653-1149delCTCTTTCTTTCTTTCTTT	CNGA1	ENSG00000198515.16	transcript	ENST00000514170.7	protein_coding	10/10			chr4	TogoVar
CNGA3_chr2_98341456_98403601	98400238	TACACACA others(11): Show TACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	338	0.0030	-18	c.29 others(29): Show c.2984_*3001delACACACACACACACACAC	CNGA3	ENSG00000144191.12	transcript	ENST00000272602.7	protein_coding		1638		chr2	TogoVar
CNGA4_chr11_6234089_6249479	6244585	TACACACA others(11): Show TACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02273.hp1 HG02280.hp1 others(2): Show HG02145.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0003 a0001c0002t0001g0001 a0001c0001t0001g0003 a0001c0002t0001g0001	5	412	0.0121	-18	c.17 others(27): Show c.177_*194delACACACACACACACACAC	CNGA4	ENSG00000132259.13	transcript	ENST00000379936.3	protein_coding		107		chr11	TogoVar
CNGB1_chr16_57877340_57976128	57879743	TTCTTTCT others(11): Show TTCTTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01891.hp1 HG02257.hp1 others(3): Show HG01358.hp2 HG01891.hp1 HG02257.hp1 HG02280.hp1 HG03098.hp2 HG03225.hp2	a0001 a0009 a0026 others(1): Show a0001 a0009 a0026 a0049	a0001c0013 a0009c0026 a0009c0061 others(2): Show a0001c0013 a0009c0026 a0009c0061 a0026c0080 a0049c0108	a0001c0013t0004 a0009c0026t0004 a0009c0061t0004 others(2): Show a0001c0013t0004 a0009c0026t0004 a0009c0061t0004 a0026c0080t0015 a0049c0108t0004	a0001c0013t0004g0308 a0009c0026t0004g0059 a0009c0026t0004g0310 others(3): Show a0001c0013t0004g0308 a0009c0026t0004g0059 a0009c0026t0004g0310 a0009c0061t0004g0049 a0026c0080t0015g0188 a0049c0108t0004g0061	6	360	0.0167	-18	c.44 others(29): Show c.4403_*4420delGAAAGAAAGAAAGAAAGA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2596		chr16	TogoVar
CNGB3_chr8_86569179_86748634	86569480	GCCCACAC others(11): Show GCCCACACACACACACATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01069.hp1 HG01071.hp2 others(19): Show HG00140.hp1 HG01069.hp1 HG01071.hp2 HG01257.hp1 HG01884.hp1 HG02004.hp2 HG02257.hp2 HG03209.hp2 HG03492.hp1 NA18522.hp2 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18954.hp2 NA18960.hp2 NA18966.hp1 NA19001.hp2 NA19011.hp2 NA19066.hp2 NA19068.hp2 NA19082.hp1 NA20905.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0001 a0002c0002 a0006c0006 others(1): Show a0001c0001 a0002c0002 a0006c0006 a0007c0007	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0004 a0006c0006t0001 a0007c0007t0004	a0001c0001t0001g0061 a0001c0001t0001g0084 a0001c0001t0001g0085 others(19): Show a0001c0001t0001g0061 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0245 a0001c0001t0001g0267 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0001g0285 a0001c0001t0004g0017 a0001c0001t0004g0049 a0001c0001t0004g0051 a0001c0001t0004g0113 a0001c0001t0004g0259 a0002c0002t0001g0178 a0002c0002t0004g0069 a0006c0006t0001g0098 a0006c0006t0001g0170 a0007c0007t0004g0012 a0007c0007t0004g0013	22	288	0.0764	-18	c.63 others(29): Show c.6306_*6323delTATGTGTGTGTGTGTGGG	CNGB3	ENSG00000170289.13	transcript	ENST00000320005.6	protein_coding		4698		chr8	TogoVar
CNGB3_chr8_86569179_86748634	86600776	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0168 a0002c0002t0001g0168	1	288	0.0035	-18	c.178 others(37): Show c.1781+3299_1781+3316delAAAAAAAAAAAAAAAAAA	CNGB3	ENSG00000170289.13	transcript	ENST00000320005.6	protein_coding	15/17			chr8	TogoVar
CNGB3_chr8_86569179_86748634	86720835	TGTATACA others(11): Show TGTATACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp2 HG00741.hp1 others(52): Show HG00558.hp2 HG00621.hp2 HG00741.hp1 HG01106.hp2 HG01192.hp2 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02602.hp2 HG02735.hp1 HG02809.hp1 HG02895.hp2 HG03492.hp1 HG03669.hp2 HG03688.hp2 HG04204.hp1 NA18939.hp2 NA18943.hp2 NA18944.hp2 NA18952.hp1 NA18953.hp2 NA18960.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18973.hp1 NA18979.hp1 NA18982.hp2 NA18988.hp1 NA18994.hp2 NA18999.hp2 NA19001.hp1 NA19003.hp2 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19054.hp1 NA19060.hp2 NA19066.hp2 NA19082.hp1 NA19084.hp1 NA19090.hp2 NA20129.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0017	a0001c0001 a0003c0004 a0004c0003 others(1): Show a0001c0001 a0003c0004 a0004c0003 a0017c0013	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0003c0004t0002 a0004c0003t0001 a0017c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0020 others(51): Show a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0165 a0001c0001t0004g0049 a0001c0001t0004g0051 a0001c0001t0005g0074 a0001c0001t0009g0094 a0003c0004t0002g0024 a0003c0004t0002g0054 a0003c0004t0002g0066 a0003c0004t0002g0073 a0003c0004t0002g0076 a0003c0004t0002g0079 a0004c0003t0001g0037 a0004c0003t0001g0055 a0004c0003t0001g0059 a0004c0003t0001g0062 a0017c0013t0001g0093	55	288	0.1910	-18	c.338 others(35): Show c.338+5678_338+5695delGTGTGTGTGTGTGTATAC	CNGB3	ENSG00000170289.13	transcript	ENST00000320005.6	protein_coding	3/17			chr8	TogoVar
CNIH3_chr1_224611317_224745554	224674272	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp2 HG00642.hp1 others(53): Show HG00544.hp2 HG00609.hp2 HG00642.hp1 HG01070.hp2 HG01243.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp2 HG01515.hp1 HG01884.hp2 HG01891.hp1 HG01981.hp2 HG02004.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02723.hp1 HG02809.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03209.hp1 HG03239.hp2 HG03831.hp2 HG03927.hp1 HG04115.hp2 HG06807.hp1 NA18747.hp2 NA18906.hp2 NA18944.hp2 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18974.hp1 NA18977.hp1 NA18978.hp1 NA18982.hp1 NA18983.hp2 NA18992.hp2 NA19064.hp1 NA19065.hp2 NA19082.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0026 a0001c0002t0001	a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0045 others(51): Show a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0094 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0234 a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0283 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0167 a0001c0001t0004g0131 a0001c0001t0006g0032 a0001c0001t0006g0033 a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0008g0018 a0001c0001t0011g0111 a0001c0001t0011g0112 a0001c0001t0011g0114 a0001c0001t0012g0012 a0001c0001t0012g0013 a0001c0001t0012g0014 a0001c0001t0014g0124 a0001c0001t0026g0164 a0001c0002t0001g0003 a0001c0002t0001g0053 a0001c0002t0001g0081 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258	56	358	0.1564	-18	c.82- others(33): Show c.82-6668_82-6651delTTTTTTTTTTTTTTTTTT	CNIH3	ENSG00000143786.8	transcript	ENST00000272133.4	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNIH3_chr1_224611317_224745554	224709148	GTAAGTGT others(11): Show GTAAGTGTGGGCTCTCCCC	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0226 a0001c0001t0005g0226	1	358	0.0028	-18	c.199 others(37): Show c.199-21302_199-21285delTCTCCCCTAAGTGTGGGC	CNIH3	ENSG00000143786.8	transcript	ENST00000272133.4	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNKSR2_chrX_21369418_21659689	21372464	TATATATA others(11): Show TATATATACACATATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0034 a0001c0001t0027g0034	1	163	0.0061	-18	c.-24 others(29): Show c.-2433_-2416delATATATACACATATATAC	CNKSR2	ENSG00000149970.16	transcript	ENST00000379510.5	protein_coding		1953		chrX	TogoVar
CNKSR2_chrX_21369418_21659689	21409228	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02809.hp1 HG02976.hp2 others(1): Show HG02572.hp1 HG02809.hp1 HG02976.hp2 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009	a0001c0001t0002g0126 a0001c0001t0003g0031 a0001c0001t0009g0011 others(1): Show a0001c0001t0002g0126 a0001c0001t0003g0031 a0001c0001t0009g0011 a0001c0001t0009g0012	4	163	0.0245	-18	c.65- others(35): Show c.65-17235_65-17218delATATATATATATATATAT	CNKSR2	ENSG00000149970.16	transcript	ENST00000379510.5	protein_coding	1/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
CNKSR2_chrX_21369418_21659689	21495783	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02074.hp1 NA19012.hp1 others(1): Show HG00621.hp1 HG02074.hp1 NA19012.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0003 a0001c0001t0002g0110 a0001c0001t0002g0118 others(1): Show a0001c0001t0002g0003 a0001c0001t0002g0110 a0001c0001t0002g0118 a0001c0001t0008g0124	4	163	0.0245	-18	c.682 others(35): Show c.682-1982_682-1965delAAAAAAAAAAAAAAAAAA	CNKSR2	ENSG00000149970.16	transcript	ENST00000379510.5	protein_coding	6/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
CNKSR3_chr6_154382515_154515685	154454104	CAGAGAGA others(11): Show CAGAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01496.hp1 HG01496.hp2 others(5): Show HG01256.hp1 HG01496.hp1 HG01496.hp2 HG02109.hp2 HG02897.hp2 HG02922.hp1 HG03041.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0042 a0001c0001t0182 others(3): Show a0001c0001t0003 a0001c0001t0042 a0001c0001t0182 a0001c0002t0022 a0001c0002t0039 a0001c0002t0068	a0001c0001t0003g0144 a0001c0001t0042g0146 a0001c0001t0182g0147 others(5): Show a0001c0001t0003g0144 a0001c0001t0042g0146 a0001c0001t0182g0147 a0001c0002t0022g0251 a0001c0002t0022g0288 a0001c0002t0022g0289 a0001c0002t0039g0152 a0001c0002t0068g0012	8	342	0.0234	-18	c.53- others(33): Show c.53-3864_53-3847delCTCTCTCTCTCTCTCTCT	CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding	1/12			chr6	TogoVar
CNMD_chr13_52698264_52744820	52706738	TATGTGTG others(11): Show TATGTGTGTGTGTCTGTGG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp2 HG02486.hp1 others(3): Show HG01891.hp2 HG02257.hp2 HG02486.hp1 HG02897.hp2 HG02970.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0189 others(3): Show a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192	6	330	0.0182	-18	c.789 others(35): Show c.789+1780_789+1797delCCACAGACACACACACAT	CNMD	ENSG00000136110.13	transcript	ENST00000377962.8	protein_coding	6/6			chr13	TogoVar
CNMD_chr13_52698264_52744820	52720740	ATCCCTGC others(11): Show ATCCCTGCTGGGAGGTGTC	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0059 a0001c0001t0005g0059	1	330	0.0030	-18	c.468 others(35): Show c.468+3239_468+3256delGACACCTCCCAGCAGGGA	CNMD	ENSG00000136110.13	transcript	ENST00000377962.8	protein_coding	4/6			chr13	TogoVar
CNN1_chr19_11533851_11555323	11553582	TACACACA others(11): Show TACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01168.hp1 HG01952.hp1 others(30): Show HG01109.hp2 HG01168.hp1 HG01952.hp1 HG02055.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02630.hp1 HG02717.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03579.hp2 NA18522.hp1 NA19030.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0007 a0001c0001 a0001c0002 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0003c0007t0002	a0001c0001t0001g0037 a0001c0001t0001g0146 a0001c0001t0002g0004 others(19): Show a0001c0001t0001g0037 a0001c0001t0001g0146 a0001c0001t0002g0004 a0001c0001t0002g0013 a0001c0001t0002g0025 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0203 a0001c0002t0001g0088 a0001c0002t0001g0136 a0001c0002t0001g0169 a0001c0002t0002g0024 a0001c0002t0002g0026 a0003c0007t0002g0067	33	392	0.0842	-18	c.37 others(29): Show c.3788_*3805delACACACACACACACACAC	CNN1	ENSG00000130176.8	transcript	ENST00000252456.7	protein_coding		3260		chr19	TogoVar
CNNM2_chr10_102913294_103095222	102988014	AAAGGCCG others(11): Show AAAGGCCGGGCATGGTGGC	A A	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0090 a0001c0001t0008g0090	1	270	0.0037	-18	c.162 others(39): Show c.1622-61692_1622-61675delAAGGCCGGGCATGGTGGC	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7			chr10	TogoVar
CNNM4_chr2_96755902_96816874	96765024	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0250 a0001c0003t0001g0250	1	270	0.0037	-18	c.140 others(37): Show c.1402+2648_1402+2665delTTTTTTTTTTTTTTTTTT	CNNM4	ENSG00000158158.12	transcript	ENST00000377075.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNNM4_chr2_96755902_96816874	96774960	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA20129.hp1 HG02622.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0092 a0001c0001t0006g0077 a0001c0001t0005g0092 a0001c0001t0006g0077	2	270	0.0074	-18	c.140 others(39): Show c.1402+12580_1402+12597delAAAAAAAAAAAAAAAAAA	CNNM4	ENSG00000158158.12	transcript	ENST00000377075.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNOT10_chr3_32680188_32778875	32695968	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00642.hp2 others(43): Show HG00140.hp2 HG00438.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00741.hp2 HG01074.hp1 HG01099.hp2 HG01255.hp2 HG02074.hp2 HG02083.hp2 HG02155.hp2 HG02165.hp2 HG02572.hp1 HG02615.hp2 HG02647.hp2 HG02698.hp1 HG02735.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG03041.hp1 HG03490.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG04184.hp1 HG04199.hp2 NA18947.hp1 NA18950.hp2 NA18972.hp2 NA18980.hp2 NA18981.hp2 NA18984.hp2 NA18985.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18993.hp2 NA18998.hp1 NA19004.hp1 NA19007.hp2 NA19056.hp1 NA19058.hp1 NA19068.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 others(43): Show a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0210 a0001c0001t0001g0282	46	354	0.1299	-18	c.23- others(33): Show c.23-7869_23-7852delGTGTGTGTGTGTGTGTGT	CNOT10	ENSG00000182973.20	transcript	ENST00000328834.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT1_chr16_58514951_58634826	58529840	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0285 a0001c0004t0001g0285	1	308	0.0033	-18	c.627 others(35): Show c.6279+388_6279+405delTTTTTTTTTTTTTTTTTT	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	43/48			chr16	TogoVar

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