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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CIP2A_chr3_108544864_108594438	108569168	C C	CTATATAT others(31): Show CTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01070.hp2 HG01071.hp2 others(13): Show HG00642.hp1 HG01070.hp2 HG01071.hp2 HG01106.hp1 HG01167.hp1 HG01975.hp2 HG02602.hp2 HG03017.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03704.hp1 NA18965.hp2 NA18986.hp1 NA18988.hp2 NA19030.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0010 a0001c0001 a0002c0002 a0007c0010	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0002c0002t0001 a0007c0010t0001	a0001c0001t0001g0021 a0001c0001t0001g0146 a0001c0001t0004g0314 others(12): Show a0001c0001t0001g0021 a0001c0001t0001g0146 a0001c0001t0004g0314 a0001c0001t0004g0316 a0001c0001t0004g0351 a0001c0001t0005g0321 a0002c0002t0001g0003 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0055 a0002c0002t0001g0061 a0002c0002t0001g0120 a0002c0002t0001g0135 a0007c0010t0001g0114 a0007c0010t0001g0115	16	372	0.0430	38	c.111 others(55): Show c.1113+220_1113+221insTATATATATATATATATATATATATATA TATATATATA		CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20						chr3	TogoVar
CIP2A_chr3_108544864_108594438	108569179	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA20129.hp2 HG03017.hp1 NA20129.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0011 a0001c0001 a0010c0011	a0001c0001t0001 a0010c0011t0008 a0001c0001t0001 a0010c0011t0008	a0001c0001t0001g0099 a0010c0011t0008g0144 a0001c0001t0001g0099 a0010c0011t0008g0144	2	372	0.0054	38	c.111 others(55): Show c.1113+209_1113+210insGTATATATATATATATATATATATATAT ATATATATAT		CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20						chr3	TogoVar
CIP2A_chr3_108544864_108594438	108569181	T T	TATATATA others(31): Show TATATATATATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA18612.hp2 NA19005.hp1 HG00733.hp2 NA18612.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0181 a0001c0001t0002g0248 a0001c0001t0002g0172 a0001c0001t0002g0181 a0001c0001t0002g0248	3	372	0.0081	38	c.111 others(55): Show c.1113+207_1113+208insGTGTGTGTGTGTATATATATATATATAT ATATATATAT		CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20						chr3	TogoVar
CIP2A_chr3_108544864_108594438	108569181	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01516.hp1 HG02647.hp2 others(4): Show HG01358.hp2 HG01516.hp1 HG02647.hp2 HG02976.hp1 HG03041.hp1 NA18522.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0005 others(1): Show a0001c0001 a0002c0002 a0003c0005 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0003c0005t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0005t0002 a0004c0004t0005	a0001c0001t0001g0208 a0001c0001t0001g0211 a0002c0002t0001g0065 others(4): Show a0001c0001t0001g0208 a0001c0001t0001g0211 a0002c0002t0001g0065 a0003c0005t0002g0158 a0003c0005t0002g0352 a0004c0004t0005g0012 a0004c0004t0005g0149	7	372	0.0188	38	c.111 others(55): Show c.1113+207_1113+208insGTATATATATATATATATATATATATAT ATATATATAT		CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20						chr3	TogoVar
CKAP4_chr12_106232881_106253020	106237526	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	418	0.0024	38	c.14 others(49): Show c.1497_*1498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT		CKAP4	ENSG00000136026.14	transcript	ENST00000378026.5	protein_coding					354		chr12	TogoVar
CLASP1_chr2_121332776_121654462	121633028	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02083.hp1 HG02615.hp1 HG02015.hp1 HG02083.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0019 a0001c0002t0009 a0001c0002t0019	a0001c0002t0009g0177 a0001c0002t0009g0178 a0001c0002t0019g0174 a0001c0002t0009g0177 a0001c0002t0009g0178 a0001c0002t0019g0174	3	214	0.0140	38	c.-28 others(59): Show c.-286+16343_-286+16344insCATATATATATATATATATATATA TATATATATATATA		CLASP1	ENSG00000074054.21	transcript	ENST00000696935.1	protein_coding	1/40						chr2	TogoVar
CLDN19_chr1_42728093_42745236	42729450	A A	ATATATAT others(31): Show ATATATATATATATATATGTATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0044 a0001c0001t0017g0044	1	428	0.0023	38	c.56 others(49): Show c.5635_*5636insCATATATATATATATATATACATATATATATATA TATA		CLDN19	ENSG00000164007.11	transcript	ENST00000296387.6	protein_coding					3642		chr1	TogoVar
CLEC10A_chr17_7069537_7085251	7070600	A A	AAAAGAAA others(31): Show AAAAGAAAGAAAAGAAAGAAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0037 a0001c0004t0001g0037	1	458	0.0022	38	c.44 others(49): Show c.4453_*4454insCTTTCTTTCTTTCTTTCTTTTCTTTCTTTTCTTT CTTT		CLEC10A	ENSG00000132514.14	transcript	ENST00000416562.7	protein_coding					3936		chr17	TogoVar
CLEC2B_chr12_9847369_9874354	9853071	A A	AAGAAAGA others(31): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0113 a0001c0001t0069g0113	1	454	0.0022	38	c.22 others(47): Show c.228_*229insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT		CLEC2B	ENSG00000110852.5	transcript	ENST00000228438.3	protein_coding	5/5				228		chr12	TogoVar
CLEC2B_chr12_9847369_9874354	9853075	A A	AAGAAAGA others(31): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0075 a0001c0001t0059g0075	1	454	0.0022	38	c.22 others(47): Show c.224_*225insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT		CLEC2B	ENSG00000110852.5	transcript	ENST00000228438.3	protein_coding	5/5				224		chr12	TogoVar
CLEC2B_chr12_9847369_9874354	9853083	A A	AAGAAAGA others(31): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01358.hp2 others(8): Show HG01257.hp1 HG01258.hp1 HG01358.hp2 HG02135.hp1 HG02559.hp1 HG02895.hp1 NA18954.hp2 NA18992.hp1 NA18992.hp2 NA18997.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0020 a0001c0001t0009g0045 a0001c0001t0009g0074 others(4): Show a0001c0001t0009g0020 a0001c0001t0009g0045 a0001c0001t0009g0074 a0001c0001t0009g0084 a0001c0001t0009g0085 a0001c0001t0009g0182 a0001c0001t0009g0194	11	454	0.0242	38	c.21 others(47): Show c.216_*217insCTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTT CT		CLEC2B	ENSG00000110852.5	transcript	ENST00000228438.3	protein_coding	5/5				216		chr12	TogoVar
CLEC4G_chr19_7723957_7737110	7732906	A A	AAAAAAAA others(31): Show AAAAAAAATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	432	0.0023	38	c.-80 others(47): Show c.-805_-804insATATATATATATATATATATATATATATATATTTTT TT		CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding					797		chr19	TogoVar
CLIC3_chr9_136989608_137001568	137000000	C C	CCCAGCCT others(31): Show CCCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	398	0.0025	38	c.-34 others(49): Show c.-3458_-3457insTGGTGGGCGCCTGTAATCCCAGCTACTCGGGAGG CTGG		CLIC3	ENSG00000169583.13	transcript	ENST00000494426.2	protein_coding					3433		chr9	TogoVar
CLIC5_chr6_45893456_46020860	45958435	T T	TATATATA others(31): Show TATATATATATATACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18964.hp1 NA18959.hp2 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0127 a0001c0001t0002g0128	2	340	0.0059	38	c.64- others(53): Show c.64-3192_64-3191insGTGTGTGTGTGTGTGTGTGTGTGTGTATAT ATATATAT		CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	1/5						chr6	TogoVar
CLIC5_chr6_45893456_46020860	45958439	T T	TATATATA others(31): Show TATATATATACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	340	0.0029	38	c.64- others(53): Show c.64-3196_64-3195insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT ATATATAT		CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	1/5						chr6	TogoVar
CLN6_chr15_68201992_68234728	68229767	A A	AGCGGAGC others(31): Show AGCGGAGCGGAGGAGGCGGGCGGAGCGGAGGGAGGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	324	0.0031	38	c.-18 others(47): Show c.-184_-183insCCCGCCTCCCTCCGCTCCGCCCGCCTCCTCCGCTCC GC		CLN6	ENSG00000128973.13	transcript	ENST00000249806.11	protein_coding					40		chr15	TogoVar
CLNK_chr4_10481395_10689768	10616790	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATACATA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0297 a0003c0003t0003g0297	1	320	0.0031	38	c.12- others(55): Show c.12-18742_12-18741insTATGTATATATATATATATATATATATA TATATATATA		CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	2/18						chr4	TogoVar
CLNK_chr4_10481395_10689768	10654384	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01891.hp1 HG02258.hp1 others(4): Show HG00140.hp2 HG01891.hp1 HG02258.hp1 HG02809.hp2 HG04115.hp2 NA18943.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0001t0013 a0001c0001t0038 others(2): Show a0001c0001t0005 a0001c0001t0013 a0001c0001t0038 a0001c0001t0045 a0001c0004t0076	a0001c0001t0005g0108 a0001c0001t0005g0241 a0001c0001t0005g0245 others(4): Show a0001c0001t0005g0108 a0001c0001t0005g0241 a0001c0001t0005g0245 a0001c0001t0013g0238 a0001c0001t0038g0214 a0001c0001t0045g0197 a0001c0004t0076g0174	7	320	0.0219	38	c.11+ others(55): Show c.11+13474_11+13475insATATATATATATATATATATATATATAT ATATATATAT		CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	2/18						chr4	TogoVar
CLPTM1L_chr5_1312752_1350099	1333604	T T	TAAGGGGG others(31): Show TAAGGGGGGACTACTGTAGACACACCGCAAGAGGATAAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0345 a0001c0001t0003g0345	1	370	0.0027	38	c.891 others(53): Show c.891+684_891+685insCTTATCCTCTTGCGGTGTGTCTACAGTAGT CCCCCCTT		CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16						chr5	TogoVar
CLRN1_chr3_150921567_150977727	150969313	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0191 a0001c0001t0003g0191	1	408	0.0025	38	c.253 others(55): Show c.253+3142_253+3143insAATATATATATATATATATATATATATA TATATATATA		CLRN1	ENSG00000163646.12	transcript	ENST00000327047.6	protein_coding	1/2						chr3	TogoVar
CLRN1_chr3_150921567_150977727	150969313	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0023 a0002c0004t0003g0023	1	408	0.0025	38	c.253 others(55): Show c.253+3142_253+3143insAAAATATATATATATATATATATATATA TATATATATA		CLRN1	ENSG00000163646.12	transcript	ENST00000327047.6	protein_coding	1/2						chr3	TogoVar
CLRN1_chr3_150921567_150977727	150969313	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0163 a0001c0001t0003g0163	1	408	0.0025	38	c.253 others(55): Show c.253+3142_253+3143insAAAAAATATATATATATATATATATATA TATATATATA		CLRN1	ENSG00000163646.12	transcript	ENST00000327047.6	protein_coding	1/2						chr3	TogoVar
CLTCL1_chr22_19174473_19296719	19215586	T T	TCACCTCT others(31): Show TCACCTCTATAGTGCCGGTCCATCGGAAGCACGCACTCG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0205 a0002c0001t0002g0205	1	346	0.0029	38	c.306 others(55): Show c.3065+487_3065+524dupCGAGTGCGTGCTTCCGATGGACCGGCAC TATAGAGGTG		CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	19/32						chr22	TogoVar
CLUL1_chr18_591988_655182	627027	G G	GAGAAAGA others(31): Show GAGAAAGAGAAAAGAAGAAAGAGAAAGAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	414	0.0024	38	c.424 others(51): Show c.424-69_424-68insGAAAGAGAAAAGAAGAAAGAGAAAGAAAGAAA AGAAAA		CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
CLUL1_chr18_591988_655182	627030	A A	AGAGAGAA others(31): Show AGAGAGAAAAGAAGAAAGAGAAAGAAAGAAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0301	1	414	0.0024	38	c.424 others(51): Show c.424-67_424-66insGAGAGAAAAGAAGAAAGAGAAAGAAAGAAAAG AAAAAG		CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9						chr18	TogoVar
CLYBL_chr13_99601690_99897570	99644099	T T	TTATATGT others(31): Show TTATATGTGGTGTATGTATGTATATGTGGTGTATGTATG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0209 a0001c0001t0001g0210	2	218	0.0092	38	c.62+ others(55): Show c.62+37383_62+37420dupTATGTGGTGTATGTATGTATATGTGGTG TATGTATGTA		CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99729945	G G	GGTCCCTC others(31): Show GGTCCCTCATCAGCATTGCCCATGCCCCCACCACCGTCA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02965.hp2 HG03540.hp2 others(1): Show HG02055.hp1 HG02965.hp2 HG03540.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 others(1): Show a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0067	4	218	0.0184	38	c.63- others(55): Show c.63-42859_63-42822dupCATGCCCCCACCACCGTCAGTCCCTCAT CAGCATTGCC		CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99833007	C C	CATACATA others(31): Show CATACATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	218	0.0046	38	c.250 others(57): Show c.250-25851_250-25850insCATATATATATATATATATATATATA TATATATATATA		CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
CMKLR2_chr2_206170316_206218371	206172742	A A	ACGGGAGA others(31): Show ACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	322	0.0031	38	c.34 others(49): Show c.3437_*3438insTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCT CCCG		CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding					2573		chr2	TogoVar
CMTM4_chr16_66609750_66701743	66683194	C C	CGTATATA others(31): Show CGTATATATATATATACATATATATATATATATATACAT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0239 a0001c0001t0006g0239	1	320	0.0031	38	c.186 others(57): Show c.186+13145_186+13146insATGTATATATATATATATATATGTAT ATATATATATAC		CMTM4	ENSG00000183723.13	transcript	ENST00000394106.7	protein_coding	1/3						chr16	TogoVar
CMTM8_chr3_32233680_32375321	32319057	C C	CATACATA others(31): Show CATACATACATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	344	0.0029	38	c.148 others(57): Show c.148-38313_148-38312insCATACATATATATATATATATATATA TATATATATATA		CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
CMYA5_chr5_79684836_79805222	79778811	C C	CTGTGTGT others(31): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA19240.hp1 HG02717.hp2 NA19240.hp1	a0003 a0007 a0003 a0007	a0003c0003 a0007c0008 a0003c0003 a0007c0008	a0003c0003t0001 a0007c0008t0001 a0003c0003t0001 a0007c0008t0001	a0003c0003t0001g0153 a0007c0008t0001g0340 a0003c0003t0001g0153 a0007c0008t0001g0340	2	358	0.0056	38	c.115 others(61): Show c.11556-10135_11556-10134insGTGTGTGTGTGTATGTGTGTGT GTGTGTGTGTGTGTGT		CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding	9/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
CNGA2_chrX_151729746_151750564	151742929	T T	TATATATA others(31): Show TATATATATATATATACATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0106 a0003c0003t0002g0106	1	336	0.0030	38	c.590 others(53): Show c.590-152_590-151insATACATATATATATATATATACATACATAT ATATATAT		CNGA2	ENSG00000183862.6	transcript	ENST00000329903.5	protein_coding	6/6					INFO_REALIGN_3_PRIME	chrX	TogoVar
CNGA2_chrX_151729746_151750564	151742929	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03927.hp2 HG03688.hp1 HG03927.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0110 a0003c0003t0002g0111 a0003c0003t0002g0110 a0003c0003t0002g0111	2	336	0.0060	38	c.590 others(53): Show c.590-152_590-151insATATATATATATATATATATACATACATAT ATATATAT		CNGA2	ENSG00000183862.6	transcript	ENST00000329903.5	protein_coding	6/6					INFO_REALIGN_3_PRIME	chrX	TogoVar
CNGA2_chrX_151729746_151750564	151743028	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTATATATATATATACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03225.hp1 HG03098.hp1 HG03225.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0002 a0007c0011t0002	a0007c0011t0002g0091 a0007c0011t0002g0096 a0007c0011t0002g0091 a0007c0011t0002g0096	2	336	0.0060	38	c.590 others(51): Show c.590-65_590-64insTGTGTGTGTGTATATATATATATACACACACA CACACA		CNGA2	ENSG00000183862.6	transcript	ENST00000329903.5	protein_coding	6/6						chrX	TogoVar
CNGA4_chr11_6234089_6249479	6244473	G G	GCTGCAAC others(31): Show GCTGCAACTCTGTCATCCTGTCTGCGAGATCACAGACAC	frameshift_variant frameshift_variant	HIGH	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	412	0.0024	38	c.168 others(47): Show c.1683_1684insCTCTGTCATCCTGTCTGCGAGATCACAGACACCTGC AA	p.Glu others(5): Show p.Glu562fs	CNGA4	ENSG00000132259.13	transcript	ENST00000379936.3	protein_coding	6/6	1802/1916	1684/1728	562/575		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNGB1_chr16_57877340_57976128	57879787	T T	TTCTTTTC others(31): Show TTCTTTTCTTTCTTTTTCTTTCTTTCTTTCCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0020 a0001c0015t0020	a0001c0015t0020g0336 a0001c0015t0020g0336	1	360	0.0028	38	c.43 others(49): Show c.4376_*4377insGAAAGAAAGGAAAGAAAGAAAGAAAAAGAAAGAA AAGA		CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding					2552		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57879799	C C	CTTTCTTT others(31): Show CTTTCTTTTTCTTTCTTTCCTTTCTTTCTTTCTTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 NA19068.hp1 HG04115.hp1 NA19068.hp1	a0003 a0046 a0003 a0046	a0003c0009 a0046c0107 a0003c0009 a0046c0107	a0003c0009t0006 a0046c0107t0006 a0003c0009t0006 a0046c0107t0006	a0003c0009t0006g0289 a0046c0107t0006g0099 a0003c0009t0006g0289 a0046c0107t0006g0099	2	360	0.0056	38	c.43 others(49): Show c.4364_*4365insAAGGAAAGAAAGAAAGAAAGGAAAGAAAGAAAAA GAAA		CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding					2540		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57879799	C C	CTTTTTCT others(31): Show CTTTTTCTTTCTTTCCTTTCTTTCTTTCTTTCCTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG02129.hp1 NA19005.hp1 HG01081.hp1 HG02129.hp1 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0019 a0002c0005 a0001c0001 a0001c0019 a0002c0005	a0001c0001t0001 a0001c0019t0008 a0002c0005t0001 a0001c0001t0001 a0001c0019t0008 a0002c0005t0001	a0001c0001t0001g0281 a0001c0019t0008g0247 a0002c0005t0001g0098 a0001c0001t0001g0281 a0001c0019t0008g0247 a0002c0005t0001g0098	3	360	0.0083	38	c.43 others(49): Show c.4364_*4365insAAAGAAGGAAAGAAAGAAAGAAAGGAAAGAAAGA AAAA		CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding					2540		chr16	TogoVar
CNN2_chr19_1021608_1044065	1033968	G G	GACACGGC others(31): Show GACACGGCGTCTGGTGTAGACGGGGAGCGTGGGTGGGAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0184 a0001c0003t0003g0184	1	390	0.0026	38	c.390 others(55): Show c.390+1274_390+1275insACGGCGTCTGGTGTAGACGGGGAGCGTG GGTGGGACAC		CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
CNN2_chr19_1021608_1044065	1034600	G G	GACACGGT others(31): Show GACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGAC	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA19011.hp1 NA18970.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0229 a0001c0001t0002g0208 a0001c0001t0002g0229	2	390	0.0051	38	c.391 others(55): Show c.391-1528_391-1527insACGGTGTCTGGTGTAGACGGGGAGCGTG GGTGGGACAC		CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
CNNM1_chr10_99324356_99399330	99356562	C C	CAGAAAGA others(31): Show CAGAAAGAAAGAAAGAAAAGAAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00738.hp2 others(5): Show HG00423.hp1 HG00597.hp1 HG00738.hp2 NA18950.hp2 NA18973.hp1 NA19010.hp2 NA19074.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0002c0003t0001	a0001c0001t0001g0041 a0001c0001t0001g0051 a0001c0001t0001g0071 others(5): Show a0001c0001t0001g0041 a0001c0001t0001g0051 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0105 a0001c0001t0003g0008 a0001c0001t0005g0080 a0002c0003t0001g0054	8	320	0.0250	38	c.157 others(55): Show c.1574-933_1574-932insAGAAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAA		CNNM1	ENSG00000119946.12	transcript	ENST00000356713.5	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
CNOT10_chr3_32680188_32778875	32735330	G G	GCGAGACT others(31): Show GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01515.hp1 HG01517.hp1 others(18): Show HG00639.hp1 HG01515.hp1 HG01517.hp1 HG02071.hp2 HG02080.hp2 HG02258.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02818.hp2 HG02896.hp2 HG03579.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18990.hp1 NA18995.hp1 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0081 a0001c0001t0001g0210 a0001c0001t0001g0213 others(18): Show a0001c0001t0001g0081 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0322 a0001c0001t0002g0325	21	354	0.0593	38	c.151 others(55): Show c.1514+354_1514+355insCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAA		CNOT10	ENSG00000182973.20	transcript	ENST00000328834.10	protein_coding	12/18						chr3	TogoVar
CNOT10_chr3_32680188_32778875	32754489	A A	AAAAAAAA others(31): Show AAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18972.hp1 NA19011.hp2 NA18945.hp1 NA18972.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0125 a0001c0001t0001g0174 a0001c0001t0001g0175	3	354	0.0085	38	c.159 others(57): Show c.1596-4968_1596-4967insAAAAAATATATATATATATATATATA TATATATATATA		CNOT10	ENSG00000182973.20	transcript	ENST00000328834.10	protein_coding	13/18					INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT3_chr19_54132762_54160681	54142433	T T	TACACACA others(31): Show TACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG03831.hp1 NA18906.hp1 HG02897.hp1 HG03831.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0057	3	223	0.0135	38	c.-50 others(53): Show c.-50-478_-50-477insACACACACACACACACACACACACACACAC ACACACAC		CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr19	TogoVar
CNOT6L_chr4_77708387_77824368	77819049	G G	GACACACA others(31): Show GACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG06807.hp1 NA18968.hp2 HG02074.hp1 HG06807.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295	3	328	0.0092	38	c.5+2 others(49): Show c.5+254_5+255insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT		CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	1/11						chr4	TogoVar
CNOT6_chr5_180489379_180583358	180533312	C C	CTATATAT others(31): Show CTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	334	0.0030	38	c.112 others(55): Show c.112+3955_112+3956insATATATATATATATATATATATATATAT ATATATATAT		CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
CNPY1_chr7_155496129_155551559	155527056	T T	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	426	0.0024	38	c.100 others(57): Show c.100-17960_100-17959insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGA		CNPY1	ENSG00000146910.14	transcript	ENST00000636446.2	protein_coding	2/4						chr7	TogoVar
CNTLN_chr9_17130040_17508923	17202646	G G	GTTTTTTT others(31): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18947.hp1 HG02109.hp2 NA18947.hp1	a0003 a0006 a0003 a0006	a0003c0002 a0006c0007 a0003c0002 a0006c0007	a0003c0002t0001 a0006c0007t0002 a0003c0002t0001 a0006c0007t0002	a0003c0002t0001g0054 a0006c0007t0002g0077 a0003c0002t0001g0054 a0006c0007t0002g0077	2	218	0.0092	38	c.450 others(57): Show c.450-23533_450-23532insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT		CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	2/25					INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTN1_chr12_40687439_41077415	40924881	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	230	0.0044	38	c.496 others(53): Show c.496+246_496+247insTATATATATATATATATATATATATATATA TATATATA		CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	6/23					INFO_REALIGN_3_PRIME	chr12	TogoVar

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