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
CLMP_chr11_123064872_123200248	123119028	TCTCTCTC others(17): Show TCTCTCTCTCTCTCTCTCCCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG03130.hp2 HG01993.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0224 a0001c0001t0004g0044 a0001c0001t0002g0224 a0001c0001t0004g0044	2	254	0.0079	-24	c.29- others(41): Show c.29-21100_29-21077delGGAGAGGGAGAGAGAGAGAGAGAG	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLMP_chr11_123064872_123200248	123188405	CCTTCCTC others(17): Show CCTTCCTCCTCCTCTTCCTCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0180 a0001c0001t0014g0180	1	254	0.0039	-24	c.28+ others(39): Show c.28+6484_28+6507delAGGAGGAGGAAGAGGAGGAGGAAG	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLN6_chr15_68201992_68234728	68217896	CCTACCTA others(17): Show CCTACCTACCTACCTACCTACCTAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(115): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00558.hp2 HG00621.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02083.hp2 HG02109.hp2 HG02148.hp1 HG02155.hp2 HG02273.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02818.hp2 HG02922.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03490.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18943.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18956.hp1 NA18963.hp1 NA18966.hp1 NA18974.hp1 NA18980.hp2 NA18983.hp2 NA18985.hp2 NA18989.hp2 NA18998.hp1 NA19001.hp2 NA19005.hp1 NA19011.hp2 NA19012.hp1 NA19070.hp1 NA19084.hp1 NA19088.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0002t0001 a0001c0002t0008 a0001c0008t0002 a0004c0009t0002	a0001c0001t0001g0022 a0001c0001t0001g0059 a0001c0001t0002g0002 others(72): Show a0001c0001t0001g0022 a0001c0001t0001g0059 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0009g0025 a0001c0001t0009g0103 a0001c0001t0012g0084 a0001c0001t0012g0085 a0001c0001t0013g0073 a0001c0001t0013g0135 a0001c0001t0014g0095 a0001c0001t0014g0096 a0001c0001t0015g0083 a0001c0001t0016g0072 a0001c0001t0021g0214 a0001c0002t0001g0019 a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0008g0043 a0001c0008t0002g0106 a0004c0009t0002g0058	118	324	0.3642	-24	c.198 others(39): Show c.198+616_198+639delATAGGTAGGTAGGTAGGTAGGTAG	CLN6	ENSG00000128973.13	transcript	ENST00000249806.11	protein_coding	2/6			chr15	TogoVar
CLN8_chr8_1758789_1791570	1763581	GCCGCGCC others(17): Show GCCGCGCCCCGCCCCCCGCCGCGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0057 a0001c0001t0086g0057	1	413	0.0024	-24	c.-42 others(33): Show c.-427_-404delCCGCGCCCCGCCCCCCGCCGCGCC	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		207		chr8	TogoVar
CLN8_chr8_1758789_1791570	1763593	CCCCCGCC others(17): Show CCCCCGCCGCGCCCCGCCCCCCGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 NA19005.hp2 HG00735.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0041 a0001c0001t0002 a0001c0001t0041	a0001c0001t0002g0001 a0001c0001t0041g0001 a0001c0001t0002g0001 a0001c0001t0041g0001	2	413	0.0048	-24	c.-41 others(33): Show c.-415_-392delCCCCGCCGCGCCCCGCCCCCCGCG	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		195		chr8	TogoVar
CLN8_chr8_1758789_1791570	1763733	AACGCGTG others(17): Show AACGCGTGCGCACGCGCGTGCGAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0073 a0001c0001t0005g0073	1	413	0.0024	-24	c.-27 others(33): Show c.-275_-252delACGCGTGCGCACGCGCGTGCGAAC	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		55		chr8	TogoVar
CLNK_chr4_10481395_10689768	10610771	AACACACA others(17): Show AACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03453.hp1 HG02145.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0032 a0001c0001t0001 a0001c0001t0032	a0001c0001t0001g0294 a0001c0001t0032g0295 a0001c0001t0001g0294 a0001c0001t0032g0295	2	320	0.0063	-24	c.12- others(41): Show c.12-12746_12-12723delGTGTGTGTGTGTGTGTGTGTGTGT	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	2/18			chr4	TogoVar
CLPB_chr11_72280495_72439531	72297636	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0168 a0001c0001t0015g0168	1	206	0.0049	-24	c.142 others(43): Show c.1420-2012_1420-1989delACACACACACACACACACACACAC	CLPB	ENSG00000162129.15	transcript	ENST00000294053.9	protein_coding	12/16			chr11	TogoVar
CLSPN_chr1_35727112_35774978	35770440	TATATATA others(17): Show TATATATATATATATATATATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG03098.hp2 HG03486.hp2 HG01255.hp1 HG03098.hp2 HG03486.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0023 a0003c0003t0004g0036 a0003c0003t0004g0023 a0003c0003t0004g0036	3	296	0.0101	-24	c.-59 others(33): Show c.-594_-571delGTATATATATATATATATATATAT	CLSPN	ENSG00000092853.14	transcript	ENST00000318121.8	protein_coding		463		chr1	TogoVar
CLSPN_chr1_35727112_35774978	35770444	TATATATA others(17): Show TATATATATATATATATATACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02615.hp2 HG03225.hp1 HG02145.hp2 HG02615.hp2 HG03225.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0009 a0006c0006t0009 a0001c0001t0009 a0006c0006t0009	a0001c0001t0009g0214 a0001c0001t0009g0218 a0006c0006t0009g0030 a0001c0001t0009g0214 a0001c0001t0009g0218 a0006c0006t0009g0030	3	296	0.0101	-24	c.-59 others(33): Show c.-598_-575delGTGTGTATATATATATATATATAT	CLSPN	ENSG00000092853.14	transcript	ENST00000318121.8	protein_coding		467		chr1	TogoVar
CLSTN2_chr3_139930185_140582397	139978648	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01109.hp2 HG01123.hp2 others(9): Show HG00738.hp1 HG01109.hp2 HG01123.hp2 HG01261.hp2 HG01433.hp1 HG02135.hp1 HG02615.hp2 HG03225.hp1 NA18977.hp1 NA18977.hp2 NA19066.hp2 NA19079.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0002c0010 a0004c0013	a0001c0001t0001 a0001c0001t0005 a0001c0001t0014 others(8): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0014 a0001c0001t0029 a0001c0003t0020 a0002c0002t0001 a0002c0002t0027 a0002c0004t0001 a0002c0004t0038 a0002c0010t0024 a0004c0013t0008	a0001c0001t0001g0063 a0001c0001t0001g0076 a0001c0001t0005g0035 others(9): Show a0001c0001t0001g0063 a0001c0001t0001g0076 a0001c0001t0005g0035 a0001c0001t0014g0032 a0001c0001t0029g0016 a0001c0003t0020g0009 a0002c0002t0001g0007 a0002c0002t0027g0058 a0002c0004t0001g0072 a0002c0004t0038g0108 a0002c0010t0024g0023 a0004c0013t0008g0099	12	110	0.1091	-24	c.109 others(43): Show c.109+43197_109+43220delGTGTGTGTGTGTGTGTGTGTGTGT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140135113	CACACATA others(17): Show CACACATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0086 a0002c0002t0002g0086	1	110	0.0091	-24	c.110 others(43): Show c.110-40836_110-40813delCACATATATATATATATATATATA	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN3_chr12_7125371_7163945	7148156	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02976.hp1 HG03225.hp2 others(2): Show HG01243.hp2 HG02976.hp1 HG03225.hp2 HG03453.hp1 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0009 a0001c0002t0002 a0001c0001t0001 a0001c0001t0009 a0001c0002t0002	a0001c0001t0001g0030 a0001c0001t0001g0225 a0001c0001t0009g0226 others(1): Show a0001c0001t0001g0030 a0001c0001t0001g0225 a0001c0001t0009g0226 a0001c0002t0002g0198	5	394	0.0127	-24	c.184 others(41): Show c.1848-780_1848-757delGAAAGAAAGAAAGAAAGAAAGAAA	CLSTN3	ENSG00000139182.15	transcript	ENST00000266546.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
CLTA_chr9_36185921_36217059	36205268	TCCACAGG others(17): Show TCCACAGGACTCCACAGTCCCAGTC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA19043.hp1 HG02280.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	2	400	0.0050	-24	c.485 others(41): Show c.485+1100_485+1123delCCACAGTCCCAGTCCCACAGGACT	CLTA	ENSG00000122705.18	transcript	ENST00000345519.10	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
CLTCL1_chr22_19174473_19296719	19275928	AAAGTTAA others(17): Show AAAGTTAACATTAGGTAAACACTTG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp2 HG01099.hp2 others(24): Show HG00733.hp2 HG00735.hp2 HG01099.hp2 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp2 HG02257.hp2 HG02559.hp1 HG02886.hp2 HG02970.hp2 HG03098.hp1 HG03195.hp1 HG03486.hp1 NA18951.hp2 NA18955.hp1 NA18970.hp1 NA18985.hp2 NA18989.hp1 NA18994.hp1 NA19056.hp1 NA19088.hp2 NA19240.hp2 NA20752.hp1	a0001 a0004 a0008 others(1): Show a0001 a0004 a0008 a0016	a0001c0002 a0001c0003 a0004c0006 others(3): Show a0001c0002 a0001c0003 a0004c0006 a0004c0017 a0008c0010 a0016c0018	a0001c0002t0001 a0001c0002t0008 a0001c0003t0001 others(5): Show a0001c0002t0001 a0001c0002t0008 a0001c0003t0001 a0001c0003t0009 a0004c0006t0005 a0004c0017t0005 a0008c0010t0005 a0016c0018t0001	a0001c0002t0001g0142 a0001c0002t0001g0277 a0001c0002t0008g0336 others(24): Show a0001c0002t0001g0142 a0001c0002t0001g0277 a0001c0002t0008g0336 a0001c0003t0001g0141 a0001c0003t0001g0321 a0001c0003t0009g0006 a0001c0003t0009g0007 a0001c0003t0009g0008 a0004c0006t0005g0010 a0004c0006t0005g0011 a0004c0006t0005g0012 a0004c0006t0005g0013 a0004c0006t0005g0014 a0004c0006t0005g0015 a0004c0006t0005g0016 a0004c0006t0005g0017 a0004c0006t0005g0018 a0004c0006t0005g0022 a0004c0006t0005g0023 a0004c0006t0005g0024 a0004c0006t0005g0026 a0004c0017t0005g0025 a0008c0010t0005g0009 a0008c0010t0005g0019 a0008c0010t0005g0020 a0008c0010t0005g0021 a0016c0018t0001g0117	27	346	0.0780	-24	c.43- others(36): Show c.43-122_43-99delCAAGTGTTTACCTAATGTTAACTT	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	1/32			chr22	TogoVar
CLUAP1_chr16_3496004_3544048	3529667	TTATTATA others(17): Show TTATTATATATTATATATTATTATA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	382	0.0026	-24	c.929 others(39): Show c.929-880_929-857delTATATATTATATATTATATATTAT	CLUAP1	ENSG00000103351.13	transcript	ENST00000576634.6	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLUL1_chr18_591988_655182	596846	CCTGCAGG others(17): Show CCTGCAGGCCCCGCCCACCCGGCGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG04204.hp1 HG02523.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0404 a0001c0001t0001g0171 a0001c0001t0001g0404	2	414	0.0048	-24	c.-41 others(33): Show c.-418_-395delCTGCAGGCCCCGCCCACCCGGCGT	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding		141		chr18	TogoVar
CLUL1_chr18_591988_655182	596968	GGCGTCTG others(17): Show GGCGTCTGCAGGCCCCGCCCACCCT	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG00609.hp1 others(7): Show HG00408.hp1 HG00558.hp2 HG00609.hp1 NA18612.hp2 NA18955.hp2 NA18964.hp2 NA18968.hp1 NA18995.hp1 NA18995.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0177 others(7): Show a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0208 a0001c0001t0002g0258 a0001c0001t0002g0291	10	414	0.0242	-24	c.-29 others(33): Show c.-296_-273delGCGTCTGCAGGCCCCGCCCACCCT	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	1/10	21009		chr18	TogoVar
CLUL1_chr18_591988_655182	645810	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA20129.hp1 NA19010.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0302 a0001c0001t0009g0218 a0001c0001t0001g0302 a0001c0001t0009g0218	2	414	0.0048	-24	c.139 others(41): Show c.1397+732_1397+755delATATATATATATATATATATATAT	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CLVS1_chr8_61282970_61506629	61347626	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02280.hp1 HG02970.hp1 others(2): Show HG01243.hp2 HG02280.hp1 HG02970.hp1 HG03041.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 a0001c0001t0001 a0001c0001t0002 a0001c0001t0022	a0001c0001t0001g0072 a0001c0001t0001g0087 a0001c0001t0001g0120 others(2): Show a0001c0001t0001g0072 a0001c0001t0001g0087 a0001c0001t0001g0120 a0001c0001t0002g0166 a0001c0001t0022g0170	5	184	0.0272	-24	c.456 others(43): Show c.456-28945_456-28922delATATATATATATATATATATATAT	CLVS1	ENSG00000177182.11	transcript	ENST00000325897.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CLVS2_chr6_122991235_123077925	123075281	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG02735.hp1 HG01175.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0049 a0001c0001t0004g0125 a0001c0001t0001g0049 a0001c0001t0004g0125	2	336	0.0060	-24	c.11 others(37): Show c.11521_*11544delTTTCTTTCTTTCTTTCTTTCTTTC	CLVS2	ENSG00000146352.13	transcript	ENST00000275162.10	protein_coding		2357		chr6	TogoVar
CLYBL_chr13_99601690_99897570	99676186	GTCCTTCC others(17): Show GTCCTTCCTTCCTTCCTTCCTTCCT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(48): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01074.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01257.hp1 HG01361.hp2 HG01928.hp1 HG01943.hp2 HG01975.hp2 HG02056.hp1 HG02056.hp2 HG02132.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG03239.hp1 HG03540.hp1 HG03669.hp1 HG04184.hp2 NA18946.hp2 NA18947.hp1 NA18960.hp1 NA18964.hp1 NA18967.hp2 NA18971.hp2 NA18979.hp2 NA18982.hp2 NA18998.hp1 NA19004.hp1 NA19012.hp1 NA19054.hp2 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19077.hp1 NA19085.hp1 NA20752.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0011	a0001c0001 a0001c0005 a0002c0002 others(2): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0011c0007	a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 a0003c0003t0001 a0011c0007t0001	a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0114 others(48): Show a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0114 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0212 a0001c0005t0001g0189 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0022 a0002c0002t0001g0044 a0002c0002t0001g0163 a0002c0002t0001g0191 a0002c0002t0001g0193 a0003c0003t0001g0021 a0003c0003t0001g0048 a0003c0003t0001g0176 a0003c0003t0001g0177 a0003c0003t0001g0184 a0003c0003t0001g0186 a0003c0003t0001g0203 a0011c0007t0001g0110	51	218	0.2339	-24	c.62+ others(41): Show c.62+69459_62+69482delCCTTCCTTCCTTCCTTCCTTCCTT	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99744963	CTGCAACA others(17): Show CTGCAACAACCTTTCAATCTCAAGT	C C	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0104 a0001c0001t0001g0106	2	218	0.0092	-24	c.63- others(41): Show c.63-27860_63-27837delTGCAACAACCTTTCAATCTCAAGT	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	1/8			chr13	TogoVar
CLYBL_chr13_99601690_99897570	99819416	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00738.hp1 HG00741.hp2 others(21): Show HG00733.hp1 HG00738.hp1 HG00741.hp2 HG01071.hp2 HG01168.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG02071.hp1 HG02735.hp1 HG02886.hp2 HG03669.hp1 HG04184.hp1 NA18960.hp1 NA18960.hp2 NA18964.hp2 NA18982.hp2 NA18998.hp2 NA19002.hp2 NA19054.hp1 NA19077.hp2 NA19085.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0004c0004t0001	a0001c0001t0001g0047 a0001c0001t0001g0058 a0001c0001t0001g0093 others(21): Show a0001c0001t0001g0047 a0001c0001t0001g0058 a0001c0001t0001g0093 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0202 a0001c0001t0002g0024 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0054 a0002c0002t0001g0022 a0002c0002t0001g0108 a0002c0002t0001g0113 a0002c0002t0001g0191 a0004c0004t0001g0094	24	218	0.1101	-24	c.250 others(43): Show c.250-39416_250-39393delTATATATATATATATATATATATA	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99847502	GTACCAGT others(17): Show GTACCAGTCGGTTGGGGAAGGCAGC	G G	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	218	0.0046	-24	c.250 others(43): Show c.250-11354_250-11331delAGTCGGTTGGGGAAGGCAGCTACC	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CMC1_chr3_28236619_28330142	28309821	CCACACAC others(17): Show CCACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA19240.hp1 HG01496.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	338	0.0059	-24	c.110 others(41): Show c.110-6495_110-6472delCACACACACACACACACACACACA	CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMC1_chr3_28236619_28330142	28309941	CCACACAC others(17): Show CCACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0306 a0001c0001t0004g0306	1	338	0.0030	-24	c.110 others(41): Show c.110-6366_110-6343delACACACACACACACACACACACAC	CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMC2_chr16_80961448_81011885	80965194	AAAAAAAA others(17): Show AAAAAAAACATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0063 a0002c0002t0006g0063	1	408	0.0025	-24	c.10 others(37): Show c.10875_*10898delATATATATATATATATGTTTTTTT	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		1253		chr16	TogoVar
CMC2_chr16_80961448_81011885	80965229	ATATATAT others(17): Show ATATATATATATATATGTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 NA18983.hp1 NA19010.hp2 others(1): Show HG02135.hp1 NA18983.hp1 NA19010.hp2 NA19062.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0153 a0002c0002t0013 a0002c0002t0089 others(1): Show a0001c0001t0153 a0002c0002t0013 a0002c0002t0089 a0002c0002t0117	a0001c0001t0153g0225 a0002c0002t0013g0101 a0002c0002t0089g0100 others(1): Show a0001c0001t0153g0225 a0002c0002t0013g0101 a0002c0002t0089g0100 a0002c0002t0117g0093	4	408	0.0098	-24	c.10 others(37): Show c.10840_*10863delAAAAAAAACATATATATATATATA	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		1218		chr16	TogoVar
CMC2_chr16_80961448_81011885	80965231	ATATATAT others(17): Show ATATATATATATATGTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 NA18940.hp1 NA18960.hp1 others(1): Show HG02129.hp1 NA18940.hp1 NA18960.hp1 NA18978.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0154 a0002c0002t0161 a0002c0002t0163 others(1): Show a0001c0001t0154 a0002c0002t0161 a0002c0002t0163 a0002c0002t0166	a0001c0001t0154g0279 a0002c0002t0161g0298 a0002c0002t0163g0297 others(1): Show a0001c0001t0154g0279 a0002c0002t0161g0298 a0002c0002t0163g0297 a0002c0002t0166g0296	4	408	0.0098	-24	c.10 others(37): Show c.10838_*10861delAAAAAAAAAACATATATATATATA	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		1216		chr16	TogoVar
CMIP_chr16_81439808_81716762	81613481	CTGTGGAA others(17): Show CTGTGGAACCCTAAACAGCAGGAAG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03098.hp1 HG03225.hp1 HG02109.hp2 HG03098.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0188 a0001c0001t0001g0199 a0001c0001t0006g0198 a0001c0001t0001g0188 a0001c0001t0001g0199 a0001c0001t0006g0198	3	268	0.0112	-24	c.426 others(41): Show c.426+5790_426+5813delTGTGGAACCCTAAACAGCAGGAAG	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	2/20			chr16	TogoVar
CMSS1_chr3_99812862_100186732	99983460	GTGTGTAT others(17): Show GTGTGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG03041.hp2 NA18972.hp2 others(1): Show HG02129.hp1 HG03041.hp2 NA18972.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0092 a0001c0001t0002g0097 a0001c0001t0002g0103 others(1): Show a0001c0001t0002g0092 a0001c0001t0002g0097 a0001c0001t0002g0103 a0001c0001t0009g0040	4	232	0.0172	-24	c.65- others(43): Show c.65-163511_65-163488delGTGTATATATATATATATATATAT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	99985909	TCTGTTGG others(17): Show TCTGTTGGATATATTCATAAAACAC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	232	0.0043	-24	c.65- others(43): Show c.65-161063_65-161040delCTGTTGGATATATTCATAAAACAC	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9			chr3	TogoVar
CMSS1_chr3_99812862_100186732	100115575	GTCTCTCT others(17): Show GTCTCTCTCTCTCTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0003 a0001c0001t0006g0003	1	232	0.0043	-24	c.65- others(41): Show c.65-31368_65-31345delCTCTCTCTCTCTCTCTCTCTCTCT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNBD1_chr8_86861415_87387859	87025161	CACCAATC others(17): Show CACCAATCAGCACTCCGTAAAATGG	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01261.hp2 HG02723.hp1 others(9): Show HG01167.hp2 HG01261.hp2 HG02723.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp2 NA18522.hp2 NA19043.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0002c0002 a0002c0005 others(2): Show a0001c0001 a0002c0002 a0002c0005 a0004c0003 a0007c0010	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0002c0005t0001 a0004c0003t0002 a0007c0010t0002	a0001c0001t0001g0004 a0001c0001t0001g0038 a0001c0001t0001g0039 others(9): Show a0001c0001t0001g0004 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0088 a0001c0001t0001g0118 a0001c0001t0003g0134 a0002c0002t0001g0090 a0002c0005t0001g0082 a0002c0005t0001g0084 a0002c0005t0001g0086 a0004c0003t0002g0007 a0007c0010t0002g0072	12	152	0.0790	-24	c.431 others(43): Show c.431+85422_431+85445delCGTAAAATGGACCAATCAGCACTC	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87055883	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	152	0.0066	-24	c.431 others(45): Show c.431+116170_431+116193delTTCCTTCCTTCCTTCCTTCCTTCC	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87281541	GATATATA others(17): Show GATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02280.hp1 HG02886.hp1 others(4): Show HG01243.hp1 HG02280.hp1 HG02886.hp1 HG02970.hp1 HG03195.hp2 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0041 others(4): Show a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0041 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0143 a0001c0001t0004g0116	7	152	0.0461	-24	c.772 others(41): Show c.772-3099_772-3076delTATATATATATATATATATATATA	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBP_chr3_129162827_129188896	129172608	ACAGGCAG others(17): Show ACAGGCAGACAGGCAGCCAGGCAGG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG00609.hp1 others(97): Show HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01346.hp1 HG01361.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02129.hp2 HG02135.hp2 HG02273.hp1 HG02293.hp1 HG02683.hp2 HG02698.hp2 HG02886.hp1 HG02922.hp2 HG03098.hp1 HG03704.hp1 HG03710.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA18747.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp2 NA18960.hp2 NA18961.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA18987.hp2 NA18990.hp1 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19043.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19082.hp2 NA19084.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0024 a0001c0001t0032	a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0034 others(81): Show a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0110 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0147 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0188 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0270 a0001c0001t0001g0276 a0001c0001t0001g0294 a0001c0001t0001g0299 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0316 a0001c0001t0001g0321 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0374 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0074 a0001c0001t0002g0114 a0001c0001t0002g0119 a0001c0001t0002g0124 a0001c0001t0002g0142 a0001c0001t0002g0152 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0003g0311 a0001c0001t0004g0084 a0001c0001t0004g0088 a0001c0001t0004g0122 a0001c0001t0004g0143 a0001c0001t0004g0159 a0001c0001t0004g0301 a0001c0001t0004g0313 a0001c0001t0004g0326 a0001c0001t0006g0012 a0001c0001t0006g0017 a0001c0001t0006g0040 a0001c0001t0006g0044 a0001c0001t0006g0111 a0001c0001t0006g0125 a0001c0001t0006g0130 a0001c0001t0007g0006 a0001c0001t0007g0030 a0001c0001t0007g0031 a0001c0001t0007g0077 a0001c0001t0007g0135 a0001c0001t0007g0178 a0001c0001t0024g0113 a0001c0001t0032g0045	100	430	0.2326	-24	c.-14 others(39): Show c.-14-861_-14-838delCCTGCCTGGCTGCCTGTCTGCCTG	CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding	1/4			chr3	TogoVar
CNBP_chr3_129162827_129188896	129172656	GCAGACAG others(17): Show GCAGACAGACAGACAGACAGACAGA	G G	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02970.hp1 NA18955.hp2 HG02027.hp1 HG02970.hp1 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0018 a0001c0002t0027 a0001c0002t0005 a0001c0002t0018 a0001c0002t0027	a0001c0002t0005g0349 a0001c0002t0018g0320 a0001c0002t0027g0334 a0001c0002t0005g0349 a0001c0002t0018g0320 a0001c0002t0027g0334	3	430	0.0070	-24	c.-14 others(39): Show c.-14-909_-14-886delTCTGTCTGTCTGTCTGTCTGTCTG	CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding	1/4			chr3	TogoVar
CNGA3_chr2_98341456_98403601	98360997	TTTTATTT others(17): Show TTTTATTTTATTTTATTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01069.hp1 HG01069.hp2 others(22): Show HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01168.hp2 HG01256.hp2 HG01257.hp1 HG01891.hp2 HG02300.hp2 HG02486.hp1 HG02622.hp2 HG02647.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03486.hp1 HG03486.hp2 HG03579.hp2 HG04199.hp2 HG06807.hp1 NA19007.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0006 a0001c0002 a0002c0006	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0002c0006t0003	a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0022 others(19): Show a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0029 a0001c0002t0001g0047 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0114 a0001c0002t0002g0028 a0001c0002t0002g0046 a0001c0002t0002g0048 a0001c0002t0005g0068 a0002c0006t0003g0030 a0002c0006t0003g0031	25	338	0.0740	-24	c.-37 others(41): Show c.-37-8923_-37-8900delATTTTATTTATTTTATTTTATTTT	CNGA3	ENSG00000144191.12	transcript	ENST00000272602.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNGB1_chr16_57877340_57976128	57896713	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03486.hp2 HG00741.hp1 HG03486.hp2	a0017 a0048 a0017 a0048	a0017c0062 a0048c0117 a0017c0062 a0048c0117	a0017c0062t0027 a0048c0117t0026 a0017c0062t0027 a0048c0117t0026	a0017c0062t0027g0324 a0048c0117t0026g0186 a0017c0062t0027g0324 a0048c0117t0026g0186	2	360	0.0056	-24	c.324 others(41): Show c.3242+660_3242+683delATTTATTTATTTATTTATTTATTT	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding	31/32			chr16	TogoVar
CNGB3_chr8_86569179_86748634	86635841	TATATATA others(17): Show TATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0212 a0001c0001t0005g0212	1	288	0.0035	-24	c.117 others(43): Show c.1179-2972_1179-2949delGTATATATATATATATATATATAT	CNGB3	ENSG00000170289.13	transcript	ENST00000320005.6	protein_coding	10/17			chr8	TogoVar
CNIH3_chr1_224611317_224745554	224674272	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01074.hp1 others(31): Show HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01175.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp2 HG01928.hp2 HG01952.hp2 HG01993.hp2 HG02004.hp2 HG02040.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02165.hp1 HG02602.hp2 HG03831.hp1 HG04228.hp1 NA18942.hp1 NA18951.hp1 NA18951.hp2 NA18959.hp1 NA18962.hp2 NA18968.hp1 NA18972.hp1 NA18972.hp2 NA18982.hp2 NA18993.hp1 NA19004.hp2 NA19070.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0016	a0001c0001t0001g0145 a0001c0001t0001g0286 a0001c0001t0001g0334 others(28): Show a0001c0001t0001g0145 a0001c0001t0001g0286 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0002g0001 a0001c0001t0002g0169 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0003g0295 a0001c0001t0016g0199	34	358	0.0950	-24	c.82- others(39): Show c.82-6674_82-6651delTTTTTTTTTTTTTTTTTTTTTTTT	CNIH3	ENSG00000143786.8	transcript	ENST00000272133.4	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNIH3_chr1_224611317_224745554	224741457	AGTAATTC others(17): Show AGTAATTCTCGTGATCTGTTGGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	358	0.0028	-24	c.21 others(35): Show c.2102_*2125delGTAATTCTCGTGATCTGTTGGGAG	CNIH3	ENSG00000143786.8	transcript	ENST00000272133.4	protein_coding		904		chr1	TogoVar
CNN1_chr19_11533851_11555323	11553582	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01943.hp1 HG02559.hp1 others(4): Show HG01928.hp2 HG01943.hp1 HG02559.hp1 NA18960.hp1 NA18962.hp1 NA19058.hp2 NA19091.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0009 a0001c0003t0003g0015 a0001c0003t0003g0029 others(1): Show a0001c0003t0003g0009 a0001c0003t0003g0015 a0001c0003t0003g0029 a0001c0003t0003g0090	7	392	0.0179	-24	c.37 others(35): Show c.3788_*3811delACACACACACACACACACACACAC	CNN1	ENSG00000130176.8	transcript	ENST00000252456.7	protein_coding		3260		chr19	TogoVar
CNOT4_chr7_135356795_135515102	135424040	AACACACA others(17): Show AACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0138	1	362	0.0028	-24	c.175 others(41): Show c.175-1711_175-1688delGTGTGTGTGTGTGTGTGTGTGTGT	CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	2/11			chr7	TogoVar
CNOT4_chr7_135356795_135515102	135472498	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0357 a0001c0001t0003g0357	1	362	0.0028	-24	c.-92 others(43): Show c.-92-34099_-92-34076delATATATATTTTTTTTTTTTTTTTT	CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11			chr7	TogoVar
CNOT4_chr7_135356795_135515102	135472502	AAAAAAAA others(17): Show AAAAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	362	0.0028	-24	c.-92 others(43): Show c.-92-34103_-92-34080delATATATATATATTTTTTTTTTTTT	CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11			chr7	TogoVar
CNOT4_chr7_135356795_135515102	135495686	AAAAAAAA others(17): Show AAAAAAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01515.hp1 HG01975.hp1 others(11): Show HG00609.hp2 HG01515.hp1 HG01975.hp1 HG02129.hp1 NA18946.hp1 NA18951.hp1 NA18962.hp1 NA18968.hp2 NA18971.hp1 NA18992.hp2 NA18994.hp1 NA19002.hp1 NA19003.hp2 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0245 a0002c0002t0001g0026 a0002c0002t0001g0042 others(11): Show a0001c0001t0001g0245 a0002c0002t0001g0026 a0002c0002t0001g0042 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0075 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084	14	362	0.0387	-24	c.-93 others(43): Show c.-93+14179_-93+14202delCTTTCTTTCTTTCTTTCTTTTTTT	CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11			chr7	TogoVar
CNOT4_chr7_135356795_135515102	135495690	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	362	0.0028	-24	c.-93 others(43): Show c.-93+14175_-93+14198delCTTTCTTTCTTTCTTTCTTTCTTT	CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11			chr7	TogoVar

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