JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CMTM6_chr3_32476312_32507852	32477706	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00639.hp2 others(25): Show HG00280.hp2 HG00408.hp2 HG00639.hp2 HG00741.hp2 HG01106.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG02083.hp1 HG02698.hp1 HG03017.hp1 HG03239.hp1 HG03669.hp2 HG03834.hp1 HG04199.hp2 NA18747.hp2 NA18943.hp2 NA18961.hp1 NA18972.hp2 NA18975.hp1 NA18991.hp2 NA19011.hp2 NA19055.hp2 NA19074.hp2 NA19075.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0034 others(1): Show a0001c0001t0002 a0001c0001t0017 a0001c0001t0034 a0001c0001t0039	a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0023 others(13): Show a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0023 a0001c0001t0002g0052 a0001c0001t0002g0080 a0001c0001t0002g0093 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0124 a0001c0001t0002g0149 a0001c0001t0002g0171 a0001c0001t0017g0081 a0001c0001t0017g0091 a0001c0001t0034g0088 a0001c0001t0039g0102	28	384	0.0729	19	c.62 others(30): Show c.6253_*6254insTTTTTTTTTTTTTTTTTTT	CMTM6	ENSG00000091317.8	transcript	ENST00000205636.4	protein_coding		3605		chr3	TogoVar
CMTM7_chr3_32386853_32460528	32391086	C C	CAGGCAAG others(12): Show CAGGCAAGCAGGTAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	368	0.0027	19	c.-82 others(28): Show c.-821_-820insAGGCAAGCAGGTAGGAAGG	CMTM7	ENSG00000153551.14	transcript	ENST00000334983.10	protein_coding		766		chr3	TogoVar
CMTM7_chr3_32386853_32460528	32457633	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00741.hp1 HG01167.hp2 others(5): Show HG00642.hp1 HG00741.hp1 HG01167.hp2 HG02559.hp2 HG02970.hp2 NA18966.hp2 NA19043.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0129 others(5): Show a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0129 a0001c0001t0001g0251 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0302 a0001c0001t0001g0358	8	368	0.0217	19	c.33 others(30): Show c.3379_*3380insAAAAAAAAAAAAAAAAAAA	CMTM7	ENSG00000153551.14	transcript	ENST00000334983.10	protein_coding		2106		chr3	TogoVar
CMTM8_chr3_32233680_32375321	32295455	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	344	0.0029	19	c.147 others(38): Show c.147+56341_147+56359dupAAAAAAAAAAAAAAAAAAA	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(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	344	0.0029	19	c.148 others(38): Show c.148-38298_148-38297insATATATATATATATATTTT	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(12): Show ATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	344	0.0029	19	c.148 others(38): Show c.148-38298_148-38297insATATATATATATTTTTTTT	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(12): Show ATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG03942.hp1 NA18959.hp2 HG01993.hp2 HG03942.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0060 a0001c0001t0001g0340 a0001c0001t0002g0278 a0001c0001t0001g0060 a0001c0001t0001g0340 a0001c0001t0002g0278	3	344	0.0087	19	c.148 others(38): Show c.148-38298_148-38297insATATATATATTTTTTTTTT	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(12): Show ATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	344	0.0029	19	c.148 others(38): Show c.148-38298_148-38297insATATATATTTTTTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32348529	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01071.hp2 HG01993.hp1 others(5): Show HG00738.hp2 HG01071.hp2 HG01993.hp1 HG03831.hp2 HG04184.hp2 NA18950.hp1 NA18978.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0044 a0001c0001t0001g0079 a0001c0001t0001g0133 others(5): Show a0001c0001t0001g0044 a0001c0001t0001g0079 a0001c0001t0001g0133 a0001c0001t0001g0308 a0001c0001t0001g0320 a0001c0001t0001g0332 a0001c0001t0002g0214 a0001c0001t0002g0275	8	344	0.0233	19	c.148 others(36): Show c.148-8831_148-8830insTTTTTTTTTTTTTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32361286	G G	GTTTGTTT others(12): Show GTTTGTTTTTTTTTGTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01106.hp1 HG01106.hp2 others(7): Show HG00735.hp2 HG01106.hp1 HG01106.hp2 HG01978.hp1 HG01978.hp2 HG02109.hp2 HG04228.hp1 NA18973.hp2 NA19090.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0004c0005t0001 a0001c0001t0001 a0001c0001t0002 a0004c0005t0001	a0001c0001t0001g0014 a0001c0001t0001g0136 a0001c0001t0001g0140 others(7): Show a0001c0001t0001g0014 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0281 a0001c0001t0001g0289 a0001c0001t0001g0302 a0001c0001t0002g0205 a0001c0001t0002g0262 a0001c0001t0002g0264 a0004c0005t0001g0007	10	344	0.0291	19	c.321 others(36): Show c.321+3743_321+3744insGTTTTTTTTTGTTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32361286	G G	GTTTGTTT others(12): Show GTTTGTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp1 HG01123.hp2 others(22): Show HG00140.hp2 HG00735.hp1 HG01123.hp2 HG01257.hp2 HG01258.hp2 HG01433.hp1 HG01433.hp2 HG02559.hp2 HG02698.hp2 HG03492.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 NA18944.hp2 NA18956.hp2 NA18979.hp2 NA18989.hp1 NA18993.hp1 NA19060.hp2 NA19068.hp2 NA19075.hp2 NA19087.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0078 others(22): Show a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0078 a0001c0001t0001g0088 a0001c0001t0001g0115 a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0219 a0001c0001t0001g0235 a0001c0001t0001g0295 a0001c0001t0001g0301 a0001c0001t0001g0310 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0339 a0001c0001t0002g0204 a0001c0001t0002g0225 a0001c0001t0002g0272 a0001c0001t0002g0274	25	344	0.0727	19	c.321 others(36): Show c.321+3743_321+3744insGTTTTTTTTTTTTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32361286	G G	GTTTTTTT others(12): Show GTTTTTTTTTTGTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	344	0.0029	19	c.321 others(36): Show c.321+3749_321+3750insTGTTTTTTTTTTTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTR2_chr16_71276392_71294402	71289646	A A	AGGGGAGG others(12): Show AGGGGAGGGGGAGGGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0025 a0004c0005t0006g0025	1	437	0.0023	19	c.-60 others(28): Show c.-609_-591dupCCTCCCCCTCCCCCTCCCC	CMTR2	ENSG00000180917.18	transcript	ENST00000434935.7	protein_coding		245		chr16	TogoVar
CMTR2_chr16_71276392_71294402	71289646	A A	AGGGGAGG others(12): Show AGGGGAGGGGGAGGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0006 a0004c0005t0006g0006	1	437	0.0023	19	c.-59 others(28): Show c.-591_-590insCTCCCCCCTCCCCCTCCCC	CMTR2	ENSG00000180917.18	transcript	ENST00000434935.7	protein_coding		245		chr16	TogoVar
CMTR2_chr16_71276392_71294402	71289651	A A	AGGGGGAG others(12): Show AGGGGGAGGGGGAGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0006 a0004c0005t0006g0006	1	437	0.0023	19	c.-59 others(28): Show c.-596_-595insCTCCCCCTCCCCCTCCCCC	CMTR2	ENSG00000180917.18	transcript	ENST00000434935.7	protein_coding		250		chr16	TogoVar
CMYA5_chr5_79684836_79805222	79726909	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0334 a0002c0002t0002g0334	1	358	0.0028	19	c.150 others(36): Show c.150-2001_150-1983dupTTTTTTTTTTTTTTTTTTT	CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNBD1_chr8_86861415_87387859	86940132	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	152	0.0066	19	c.431 others(34): Show c.431+379_431+397dupTTTTTTTTTTTTTTTTTTT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87129069	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02258.hp1 HG02451.hp1 others(1): Show HG01069.hp1 HG02258.hp1 HG02451.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0047 a0001c0001t0001g0057 others(1): Show a0001c0001t0001g0020 a0001c0001t0001g0047 a0001c0001t0001g0057 a0001c0001t0001g0119	4	152	0.0263	19	c.432 others(38): Show c.432-76920_432-76902dupAAAAAAAAAAAAAAAAAAA	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87136856	T T	TTTATATT others(12): Show TTTATATTATATATAAATTA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	152	0.0066	19	c.432 others(38): Show c.432-69136_432-69135insTATATTATATATAAATTAT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87307747	A A	AAAATTAT others(12): Show AAAATTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	152	0.0066	19	c.104 others(40): Show c.1042+21076_1042+21077insAAATTATATATATATATAT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	8/10			chr8	TogoVar
CNBD1_chr8_86861415_87387859	87352478	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03516.hp1 HG02622.hp2 HG03516.hp1	a0005 a0007 a0005 a0007	a0005c0007 a0007c0010 a0005c0007 a0007c0010	a0005c0007t0002 a0007c0010t0002 a0005c0007t0002 a0007c0010t0002	a0005c0007t0002g0144 a0007c0010t0002g0072 a0005c0007t0002g0144 a0007c0010t0002g0072	2	152	0.0132	19	c.115 others(36): Show c.1152+702_1152+703insAAAAAAAAAAAAAAAAAAA	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBP_chr3_129162827_129188896	129181239	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02074.hp1 HG02080.hp1 others(3): Show HG00408.hp1 HG02074.hp1 HG02080.hp1 NA18961.hp1 NA19084.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0341 a0001c0002t0005g0342 a0001c0002t0005g0343 others(3): Show a0001c0002t0005g0341 a0001c0002t0005g0342 a0001c0002t0005g0343 a0001c0002t0005g0344 a0001c0002t0005g0352 a0001c0002t0005g0353	6	430	0.0140	19	c.-15 others(36): Show c.-15+2518_-15+2536dupTTTTTTTTTTTTTTTTTTT	CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding	1/4			chr3	TogoVar
CNBP_chr3_129162827_129188896	129181649	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02080.hp1 HG02738.hp2 others(5): Show HG02027.hp1 HG02080.hp1 HG02738.hp2 HG04199.hp2 NA18961.hp1 NA18966.hp2 NA18972.hp1 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0013 a0001c0002t0020 a0001c0002t0005 a0001c0002t0013 a0001c0002t0020	a0001c0002t0005g0348 a0001c0002t0005g0349 a0001c0002t0005g0350 others(5): Show a0001c0002t0005g0348 a0001c0002t0005g0349 a0001c0002t0005g0350 a0001c0002t0005g0352 a0001c0002t0005g0353 a0001c0002t0013g0351 a0001c0002t0013g0354 a0001c0002t0020g0347	8	430	0.0186	19	c.-15 others(36): Show c.-15+2126_-15+2127insTTTTTTTTTTTTTTTTTTT	CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding	1/4			chr3	TogoVar
CNGA4_chr11_6234089_6249479	6247043	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 NA19043.hp1 HG03471.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	2	412	0.0049	19	c.26 others(30): Show c.2634_*2635insAAAAAAAAAAAAAAAAAAA	CNGA4	ENSG00000132259.13	transcript	ENST00000379936.3	protein_coding		2565		chr11	TogoVar
CNGB3_chr8_86569179_86748634	86599624	G G	GGCGGCTG others(12): Show GGCGGCTGTCTTTTACGGTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02647.hp1 HG02922.hp2 others(1): Show HG01891.hp2 HG02647.hp1 HG02922.hp2 HG03130.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0015 a0002c0002 a0001c0001 a0001c0015 a0002c0002	a0001c0001t0005 a0001c0015t0010 a0002c0002t0010 a0001c0001t0005 a0001c0015t0010 a0002c0002t0010	a0001c0001t0005g0212 a0001c0001t0005g0213 a0001c0015t0010g0145 others(1): Show a0001c0001t0005g0212 a0001c0001t0005g0213 a0001c0015t0010g0145 a0002c0002t0010g0099	4	288	0.0139	19	c.178 others(38): Show c.1781+4450_1781+4468dupGACCGTAAAAGACAGCCGC	CNGB3	ENSG00000170289.13	transcript	ENST00000320005.6	protein_coding	15/17			chr8	TogoVar
CNKSR2_chrX_21369418_21659689	21473745	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01884.hp1 HG02895.hp1 others(1): Show HG01081.hp1 HG01884.hp1 HG02895.hp1 HG03491.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0003c0004 a0001c0001 a0001c0007 a0003c0004	a0001c0001t0003 a0001c0001t0043 a0001c0007t0036 others(1): Show a0001c0001t0003 a0001c0001t0043 a0001c0007t0036 a0003c0004t0006	a0001c0001t0003g0029 a0001c0001t0043g0007 a0001c0007t0036g0026 others(1): Show a0001c0001t0003g0029 a0001c0001t0043g0007 a0001c0007t0036g0026 a0003c0004t0006g0154	4	163	0.0245	19	c.561 others(36): Show c.561+2939_561+2957dupTTTTTTTTTTTTTTTTTTT	CNKSR2	ENSG00000149970.16	transcript	ENST00000379510.5	protein_coding	5/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
CNKSR3_chr6_154382515_154515685	154415227	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0139 a0001c0002t0139	a0001c0002t0139g0070 a0001c0002t0139g0070	1	342	0.0029	19	c.946 others(34): Show c.946-805_946-804insAAAAAAAAAAAAAAAAAAA	CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding	9/12			chr6	TogoVar
CNKSR3_chr6_154382515_154515685	154415228	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18747.hp1 HG02165.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0113 a0001c0001t0013 a0001c0002t0113	a0001c0001t0013g0321 a0001c0002t0113g0330 a0001c0001t0013g0321 a0001c0002t0113g0330	2	342	0.0059	19	c.946 others(34): Show c.946-824_946-806dupAAAAAAAAAAAAAAAAAAA	CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding	9/12			chr6	TogoVar
CNN2_chr19_1021608_1044065	1040208	T T	TCGGAGAG others(12): Show TCGGAGAGGGAAGAAGGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	390	0.0026	19	c.23 others(30): Show c.2308_*2309insCGGAGAGGGAAGAAGGCCC	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding		1144		chr19	TogoVar
CNNM2_chr10_102913294_103095222	102976611	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0254 a0001c0002t0009g0254	1	270	0.0037	19	c.162 others(40): Show c.1621+56520_1621+56538dupTTTTTTTTTTTTTTTTTTT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102992273	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0205 a0001c0002t0015g0205	1	270	0.0037	19	c.162 others(40): Show c.1622-57416_1622-57415insTTTTTTTTTTTTTTTTTTT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	103017963	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02717.hp1 HG02257.hp1 HG02717.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0055 a0002c0004t0056 a0002c0004t0055 a0002c0004t0056	a0002c0004t0055g0216 a0002c0004t0056g0200 a0002c0004t0055g0216 a0002c0004t0056g0200	2	270	0.0074	19	c.162 others(40): Show c.1622-31726_1622-31725insAAAAAAAAAAAAAAAAAAA	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	103034972	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01258.hp1 HG01496.hp2 others(7): Show HG01123.hp1 HG01258.hp1 HG01496.hp2 HG02109.hp1 HG02486.hp2 HG02970.hp2 HG02976.hp2 HG03139.hp2 HG03486.hp1 NA18963.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0003 a0001c0002t0004 a0001c0002t0009 others(3): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0009 a0001c0002t0064 a0001c0002t0065 a0001c0006t0004	a0001c0002t0003g0234 a0001c0002t0003g0239 a0001c0002t0003g0240 others(7): Show a0001c0002t0003g0234 a0001c0002t0003g0239 a0001c0002t0003g0240 a0001c0002t0003g0253 a0001c0002t0004g0258 a0001c0002t0004g0264 a0001c0002t0009g0241 a0001c0002t0064g0248 a0001c0002t0065g0116 a0001c0006t0004g0182	10	270	0.0370	19	c.162 others(40): Show c.1622-14717_1622-14716insAAAAAAAAAAAAAAAAAAA	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	103087140	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp1 NA19064.hp1 HG00642.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0095 a0001c0001t0076 a0001c0001t0095	a0001c0001t0076g0040 a0001c0001t0095g0043 a0001c0001t0076g0040 a0001c0001t0095g0043	2	270	0.0074	19	c.99 others(30): Show c.9974_*9992dupTTTTTTTTTTTTTTTTTTT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	8/8	9993	INFO_REALIGN_3_PRIME	chr10	TogoVar
CNOT10_chr3_32680188_32778875	32741768	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18963.hp2 NA19063.hp2 others(1): Show HG02132.hp2 NA18963.hp2 NA19063.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0011 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0018	4	354	0.0113	19	c.159 others(38): Show c.1595+4293_1595+4294insAAAAAAAAAAAAAAAAAAA	CNOT10	ENSG00000182973.20	transcript	ENST00000328834.10	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT1_chr16_58514951_58634826	58554935	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0008 a0001c0008t0008	a0001c0008t0008g0304 a0001c0008t0008g0304	1	308	0.0033	19	c.289 others(36): Show c.2891+315_2891+316insTTTTTTTTTTTTTTTTTTT	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	21/48			chr16	TogoVar
CNOT3_chr19_54132762_54160681	54133907	T T	TTCCCTCT others(12): Show TTCCCTCTCTCCACCTCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp2 NA18983.hp1 NA18982.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0067 a0001c0002t0001g0001 a0001c0001t0001g0067 a0001c0002t0001g0001	2	223	0.0090	19	c.-41 others(30): Show c.-4137_-4136insTCCCTCTCTCCACCTCCCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3854		chr19	TogoVar
CNOT3_chr19_54132762_54160681	54134124	C C	CCTCCCCT others(12): Show CCTCCCCTCCCTCTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03831.hp2 HG03654.hp1 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0122 a0001c0002t0001g0037 a0001c0002t0001g0122	2	223	0.0090	19	c.-39 others(30): Show c.-3920_-3919insCTCCCCTCCCTCTCTCCCT	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3637		chr19	TogoVar
CNOT6L_chr4_77708387_77824368	77807276	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	328	0.0031	19	c.5+1 others(34): Show c.5+12027_5+12028insTTTTTTTTTTTTTTTTTTT	CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	1/11			chr4	TogoVar
CNPY1_chr7_155496129_155551559	155507471	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG03195.hp1 HG03516.hp2 HG01934.hp1 HG03195.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0010 a0001c0001t0027 a0001c0001t0006 a0001c0001t0010 a0001c0001t0027	a0001c0001t0006g0026 a0001c0001t0010g0247 a0001c0001t0027g0395 a0001c0001t0006g0026 a0001c0001t0010g0247 a0001c0001t0027g0395	3	426	0.0070	19	c.304 others(34): Show c.304-374_304-356dupTTTTTTTTTTTTTTTTTTT	CNPY1	ENSG00000146910.14	transcript	ENST00000636446.2	protein_coding	3/4			chr7	TogoVar
CNPY1_chr7_155496129_155551559	155527051	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0213 a0001c0001t0004g0213	1	426	0.0024	19	c.100 others(38): Show c.100-17955_100-17954insGAAAGAAAGAAAGAAAGAA	CNPY1	ENSG00000146910.14	transcript	ENST00000636446.2	protein_coding	2/4			chr7	TogoVar
CNPY1_chr7_155496129_155551559	155527054	C C	CTTTCTTT others(12): Show CTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02080.hp2 HG03453.hp2 others(4): Show HG00558.hp1 HG02080.hp2 HG03453.hp2 HG03516.hp2 NA18951.hp2 NA19000.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0002t0003 a0001c0002t0017 a0001c0003t0006 a0001c0004t0003	a0001c0001t0001g0228 a0001c0001t0009g0208 a0001c0001t0010g0247 others(4): Show a0001c0001t0001g0228 a0001c0001t0009g0208 a0001c0001t0010g0247 a0001c0002t0003g0371 a0001c0002t0017g0375 a0001c0003t0006g0049 a0001c0004t0003g0333	7	426	0.0164	19	c.100 others(38): Show c.100-17958_100-17957insAAAGAAAGAAAGAAAGAAA	CNPY1	ENSG00000146910.14	transcript	ENST00000636446.2	protein_coding	2/4			chr7	TogoVar
CNPY1_chr7_155496129_155551559	155527055	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp2 NA19078.hp1 NA19078.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0005 a0001c0003t0006 a0001c0002t0005 a0001c0003t0006	a0001c0002t0005g0331 a0001c0003t0006g0041 a0001c0002t0005g0331 a0001c0003t0006g0041	2	426	0.0047	19	c.100 others(38): Show c.100-17959_100-17958insGAAAGAAAGAAAGAAAGAA	CNPY1	ENSG00000146910.14	transcript	ENST00000636446.2	protein_coding	2/4			chr7	TogoVar
CNPY4_chr7_100114634_100130508	100121116	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03225.hp2 HG02970.hp1 HG03225.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0045 a0003c0003t0001g0045	2	416	0.0048	19	c.119 others(36): Show c.119-1142_119-1141insATATATATATATATATATT	CNPY4	ENSG00000166997.8	transcript	ENST00000262932.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNR2_chr1_23865515_23918362	23869244	A A	AAGGAAGG others(12): Show AAGGAAGGAAGGAAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02559.hp1 HG03041.hp1 others(3): Show HG02109.hp1 HG02559.hp1 HG03041.hp1 HG03195.hp2 HG03471.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0010 a0001c0001t0027 a0001c0001t0068 others(2): Show a0001c0001t0010 a0001c0001t0027 a0001c0001t0068 a0001c0001t0071 a0002c0002t0002	a0001c0001t0010g0223 a0001c0001t0027g0221 a0001c0001t0027g0222 others(3): Show a0001c0001t0010g0223 a0001c0001t0027g0221 a0001c0001t0027g0222 a0001c0001t0068g0245 a0001c0001t0071g0227 a0002c0002t0002g0030	6	268	0.0224	19	c.52 others(30): Show c.5290_*5291insCCTTCCTTCCTTCCTTCCT	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding		1270		chr1	TogoVar
CNRIP1_chr2_68288010_68324949	68306124	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0346 a0001c0002t0001g0346	1	424	0.0024	19	c.330 others(38): Show c.330+11014_330+11032dupTTTTTTTTTTTTTTTTTTT	CNRIP1	ENSG00000119865.9	transcript	ENST00000263655.4	protein_coding	2/2			chr2	TogoVar
CNTLN_chr9_17130040_17508923	17202646	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA18955.hp2 NA19057.hp2 HG02280.hp2 NA18955.hp2 NA19057.hp2	a0003 a0006 a0003 a0006	a0003c0002 a0006c0007 a0003c0002 a0006c0007	a0003c0002t0001 a0006c0007t0002 a0003c0002t0001 a0006c0007t0002	a0003c0002t0001g0063 a0003c0002t0001g0071 a0006c0007t0002g0086 a0003c0002t0001g0063 a0003c0002t0001g0071 a0006c0007t0002g0086	3	218	0.0138	19	c.450 others(38): Show c.450-23551_450-23533dupTTTTTTTTTTTTTTTTTTT	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTLN_chr9_17130040_17508923	17294785	A A	AGGGAGGG others(12): Show AGGGAGGGGGGGAGGGTGGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01069.hp2 HG01071.hp1 others(7): Show HG00140.hp1 HG01069.hp2 HG01071.hp1 HG01109.hp2 HG02486.hp1 HG03579.hp2 NA18984.hp1 NA19065.hp2 NA19068.hp1 NA19087.hp2	a0002 a0005 a0002 a0005	a0002c0006 a0002c0013 a0005c0005 others(2): Show a0002c0006 a0002c0013 a0005c0005 a0005c0036 a0005c0037	a0002c0006t0002 a0002c0013t0002 a0005c0005t0001 others(3): Show a0002c0006t0002 a0002c0013t0002 a0005c0005t0001 a0005c0005t0010 a0005c0036t0001 a0005c0037t0001	a0002c0006t0002g0144 a0002c0013t0002g0210 a0005c0005t0001g0092 others(7): Show a0002c0006t0002g0144 a0002c0013t0002g0210 a0005c0005t0001g0092 a0005c0005t0001g0094 a0005c0005t0001g0095 a0005c0005t0001g0096 a0005c0005t0010g0098 a0005c0005t0010g0099 a0005c0036t0001g0100 a0005c0037t0001g0102	10	218	0.0459	19	c.984 others(36): Show c.984-3401_984-3383dupAGGGGGGGAGGGTGGGGGG	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTLN_chr9_17130040_17508923	17294802	G G	GGGGGGAG others(12): Show GGGGGGAGGGGGGGGAGGGT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0093 a0005c0005t0001g0093	1	218	0.0046	19	c.984 others(36): Show c.984-3383_984-3382insAGGGGGGGGAGGGTGGGGG	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTLN_chr9_17130040_17508923	17294817	A A	AAGGGGGG others(12): Show AAGGGGGGAGGGCGGGGAGG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	218	0.0046	19	c.984 others(36): Show c.984-3349_984-3331dupGGGAGGGCGGGGAGGAGGG	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr9	TogoVar

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