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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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
CPT1C_chr19_49686116_49718731	49702143	A A	ATATTTAT others(22): Show ATATTTATTTATAAATTATAAATAAATATT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	350	0.0029	29	c.693 others(44): Show c.693+537_693+538insTTATTTATTTATAAATTATAAATAAATAT	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPT1C_chr19_49686116_49718731	49702163	A A	AATAAATA others(22): Show AATAAATATATATTTATTTATAAATTATAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00642.hp2 NA19060.hp1 others(2): Show HG00544.hp1 HG00642.hp2 NA19060.hp1 NA19074.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0314 a0001c0001t0002g0019 a0001c0001t0002g0023 others(2): Show a0001c0001t0001g0314 a0001c0001t0002g0019 a0001c0001t0002g0023 a0001c0001t0002g0032 a0001c0001t0002g0033	5	350	0.0143	29	c.693 others(44): Show c.693+550_693+551insAATTATAGATAAATATATATTTATTTATA	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CR1_chr1_207491157_207646765	207643919	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0026 a0026	a0026c0027 a0026c0027	a0026c0027t0002 a0026c0027t0002	a0026c0027t0002g0026 a0026c0027t0002g0026	1	360	0.0028	29	c.45 others(40): Show c.4510_*4511insATATATATATATATATATATATATATATA	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding		2155		chr1	TogoVar
CR2_chr1_207449328_207494892	207458077	C C	CACACACA others(22): Show CACACACACACACAATACACACACACACAT	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0068 a0001c0003t0001g0068	1	378	0.0027	29	c.58+ others(44): Show c.58+3614_58+3615insATACACACACACACATACACACACACACA	CR2	ENSG00000117322.19	transcript	ENST00000367057.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CRACD_chr4_56044098_56335609	56286525	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0246 a0003c0002t0002g0246	1	250	0.0040	29	c.-16 others(48): Show c.-16-11667_-16-11666insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACR2A_chr12_3610328_3758109	3745825	T T	TAAAATAA others(22): Show TAAAATAAAATAAAATAAAATAAAATAAAG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02055.hp1 HG02109.hp1 others(4): Show HG01952.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02809.hp2 HG02818.hp2 HG04115.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0004c0004t0002	a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0072 others(4): Show a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0072 a0001c0001t0001g0095 a0001c0001t0002g0069 a0002c0002t0001g0223 a0004c0004t0002g0105	7	320	0.0219	29	c.-38 others(48): Show c.-387+7189_-387+7190insCTTTATTTTATTTTATTTTATTTTAT TTT	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	1/19			chr12	TogoVar
CRB1_chr1_197263252_197483455	197319259	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG03209.hp2 HG01168.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0106 a0001c0001t0001g0107	2	186	0.0108	29	c.71- others(44): Show c.71-9144_71-9143insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CRB1	ENSG00000134376.17	transcript	ENST00000367400.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CRB2_chr9_123351197_123383753	123378798	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0240 a0001c0002t0002g0240	1	432	0.0023	29	c.17 others(40): Show c.1736_*1737insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CRB2	ENSG00000148204.12	transcript	ENST00000373631.8	protein_coding		46		chr9	TogoVar
CREG2_chr2_101340550_101392503	101372009	T T	TTTGAAGG others(22): Show TTTGAAGGCCGGGTCAGGTTGGGCAGGAGC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02559.hp2 HG02572.hp2 others(1): Show HG01358.hp1 HG02559.hp2 HG02572.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0018 a0001c0001t0023 a0003c0003t0018 others(1): Show a0001c0001t0018 a0001c0001t0023 a0003c0003t0018 a0003c0003t0023	a0001c0001t0018g0196 a0001c0001t0023g0195 a0003c0003t0018g0071 others(1): Show a0001c0001t0018g0196 a0001c0001t0023g0195 a0003c0003t0018g0071 a0003c0003t0023g0070	4	388	0.0103	29	c.611 others(48): Show c.611+11523_611+11524insGCTCCTGCCCAACCTGACCCGGCCTT CAA	CREG2	ENSG00000175874.10	transcript	ENST00000324768.6	protein_coding	2/3			chr2	TogoVar
CRISP2_chr6_49687359_49718543	49701716	A A	ATGTATAC others(22): Show ATGTATACATTATATATGTATACATTATGT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	410	0.0024	29	c.67- others(42): Show c.67-933_67-932insACATAATGTATACATATATAATGTATACA	CRISP2	ENSG00000124490.14	transcript	ENST00000339139.5	protein_coding	4/9			chr6	TogoVar
CRKL_chr22_20912407_20958747	20927192	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0143 a0001c0002t0013g0143	1	370	0.0027	29	c.312 others(46): Show c.312-6569_312-6568insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRLF2_chrX_1185490_1217649	1213086	C C	CCCCCCTC others(22): Show CCCCCCTCTCCCCTCCCTTCCCCCTCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0009	1	167	0.0060	29	c.-45 others(38): Show c.-453_-452insAGGGGAGGGGGAAGGGAGGGGAGAGGGGG	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding		438		chrX	TogoVar
CRMP1_chr4_5815764_5898086	5837650	T T	TAATAAAA others(22): Show TAATAAAATAAAATAAAATAAAATAAATAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01884.hp2 HG02300.hp1 others(6): Show HG01099.hp1 HG01884.hp2 HG02300.hp1 HG02630.hp1 HG02647.hp2 HG02922.hp2 NA18993.hp2 NA19084.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0002c0007 a0001c0002 a0002c0005 a0002c0007	a0001c0002t0001 a0001c0002t0002 a0002c0005t0002 others(1): Show a0001c0002t0001 a0001c0002t0002 a0002c0005t0002 a0002c0007t0003	a0001c0002t0001g0133 a0001c0002t0001g0160 a0001c0002t0001g0290 others(6): Show a0001c0002t0001g0133 a0001c0002t0001g0160 a0001c0002t0001g0290 a0001c0002t0002g0064 a0001c0002t0002g0260 a0001c0002t0002g0285 a0002c0005t0002g0051 a0002c0007t0003g0012 a0002c0007t0003g0027	9	314	0.0287	29	c.131 others(46): Show c.1311-745_1311-744insTTATTTATTTTATTTTATTTTATTTTAT T	CRMP1	ENSG00000072832.15	transcript	ENST00000324989.12	protein_coding	9/13			chr4	TogoVar
CRPPA_chr7_16082525_16426538	16389928	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0063 a0006c0008t0063	a0006c0008t0063g0036 a0006c0008t0063g0036	1	290	0.0035	29	c.535 others(48): Show c.535-13688_535-13687insATATATATTTTTTTTTTTTTTTTTTT TTT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	2/9			chr7	TogoVar
CRTC3_chr15_90524923_90650345	90647191	A A	ACAATCCT others(22): Show ACAATCCTCCTCCACACCCCTCCTCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 NA20129.hp1 HG02280.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0019 a0001c0001t0009 a0001c0001t0019	a0001c0001t0009g0195 a0001c0001t0019g0028 a0001c0001t0009g0195 a0001c0001t0019g0028	2	276	0.0073	29	c.50 others(40): Show c.5051_*5052insCAATCCTCCTCCACACCCCTCCTCCTCCT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1847		chr15	TogoVar
CRTC3_chr15_90524923_90650345	90647237	C C	CCCTCCTC others(22): Show CCCTCCTCCTCAATCCTCCTCCACACCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0149 a0001c0006t0003g0149	1	276	0.0036	29	c.50 others(40): Show c.5097_*5098insCCTCCTCCTCAATCCTCCTCCACACCCCT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1893		chr15	TogoVar
CRTC3_chr15_90524923_90650345	90647246	T T	TCAATCCT others(22): Show TCAATCCTCCTCCACACCCCTCCTCCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	276	0.0036	29	c.51 others(40): Show c.5106_*5107insCAATCCTCCTCCACACCCCTCCTCCTCCA	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1902		chr15	TogoVar
CRTC3_chr15_90524923_90650345	90647259	A A	ACACCCCT others(22): Show ACACCCCTCCTCCTCCACAATCCTCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG02615.hp2 HG02630.hp1 others(4): Show HG01070.hp1 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG03139.hp2 HG03486.hp2 HG03579.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 a0003c0003t0001	a0001c0001t0001g0059 a0001c0001t0001g0121 a0001c0001t0001g0190 others(4): Show a0001c0001t0001g0059 a0001c0001t0001g0121 a0001c0001t0001g0190 a0001c0001t0007g0219 a0001c0001t0010g0035 a0003c0003t0001g0217 a0003c0003t0001g0218	7	276	0.0254	29	c.51 others(40): Show c.5119_*5120insCACCCCTCCTCCTCCACAATCCTCCTCCT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1915		chr15	TogoVar
CRTC3_chr15_90524923_90650345	90647263	C C	CCCTCCTC others(22): Show CCCTCCTCCTCAATCCTCCTCCACACCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 NA19030.hp2 HG02976.hp2 NA19030.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0038 a0004c0005t0003 a0002c0002t0038 a0004c0005t0003	a0002c0002t0038g0085 a0004c0005t0003g0086 a0002c0002t0038g0085 a0004c0005t0003g0086	2	276	0.0073	29	c.51 others(40): Show c.5123_*5124insCCTCCTCCTCAATCCTCCTCCACACCCCT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1919		chr15	TogoVar
CRTC3_chr15_90524923_90650345	90647369	A A	ACACCCCT others(22): Show ACACCCCTCCTCCTCCACAATCCTCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0191 a0001c0001t0042g0191	1	276	0.0036	29	c.52 others(40): Show c.5229_*5230insCACCCCTCCTCCTCCACAATCCTCCTCCT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2025		chr15	TogoVar
CRYBB2_chr22_25214639_25236869	25216356	G G	GGCACAGA others(22): Show GGCACAGAAATTTAGACATAGAAATCAGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	464	0.0022	29	c.-33 others(40): Show c.-3337_-3336insGCACAGAAATTTAGACATAGAAATCAGCC	CRYBB2	ENSG00000244752.3	transcript	ENST00000398215.3	protein_coding		3282		chr22	TogoVar
CRYBB2_chr22_25214639_25236869	25218779	G G	GAGAAAGA others(22): Show GAGAAAGAAAGAAAGAAAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	464	0.0022	29	c.-91 others(38): Show c.-914_-913insAGAAAGAAAGAAAGAAAAAGAAAGAAAGA	CRYBB2	ENSG00000244752.3	transcript	ENST00000398215.3	protein_coding		859		chr22	TogoVar
CRYBB2_chr22_25214639_25236869	25218779	G G	GAGAGAGA others(22): Show GAGAGAGAGAGAGAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	464	0.0022	29	c.-91 others(38): Show c.-914_-913insAGAGAGAGAGAGAGAAAGAAAGAAAGAAA	CRYBB2	ENSG00000244752.3	transcript	ENST00000398215.3	protein_coding		859		chr22	TogoVar
CRYBG1_chr6_106355717_106577017	106361969	C C	CTTTCTTT others(22): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0228 a0004c0004t0002g0228	1	272	0.0037	29	c.173 others(44): Show c.173+891_173+892insCTTTCTTTCTTTCTTTCTTTCTTTCTTTT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYGN_chr7_151423832_151445141	151428290	C C	CTTCTTTT others(22): Show CTTCTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 NA19011.hp1 HG00438.hp2 NA19011.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0008 a0001c0002 a0003c0008	a0001c0002t0001 a0003c0008t0001 a0001c0002t0001 a0003c0008t0001	a0001c0002t0001g0098 a0003c0008t0001g0108 a0001c0002t0001g0098 a0003c0008t0001g0108	2	452	0.0044	29	c.17 others(40): Show c.1757_*1758insAAAAAAAAAAAAAAAAAAAAAAAAAAGAA	CRYGN	ENSG00000127377.10	transcript	ENST00000337323.3	protein_coding		541		chr7	TogoVar
CRYM_chr16_21253521_21283290	21278857	A A	ACAAACCT others(22): Show ACAAACCTTCGCCTTTAAAGGGGGAAGTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	394	0.0025	29	c.-60 others(38): Show c.-607_-606insAAACTTCCCCCTTTAAAGGCGAAGGTTTG	CRYM	ENSG00000103316.12	transcript	ENST00000572914.2	protein_coding		568		chr16	TogoVar
CRYZL1_chr21_33584341_33646741	33605530	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01074.hp1 HG01169.hp2 others(4): Show HG01069.hp2 HG01074.hp1 HG01169.hp2 HG02145.hp2 HG03490.hp2 NA18953.hp2 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0170 others(4): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0170 a0001c0001t0001g0320 a0001c0001t0001g0329 a0001c0001t0003g0017 a0001c0001t0003g0018	7	360	0.0194	29	c.332 others(46): Show c.332-1994_332-1993insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	CRYZL1	ENSG00000205758.12	transcript	ENST00000381554.8	protein_coding	6/12			chr21	TogoVar
CSE1L_chr20_49041312_49101949	49047564	C C	CTTTTTTT others(22): Show CTTTTTTTTCTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0321 a0001c0002t0001g0321	1	386	0.0026	29	c.-12 others(46): Show c.-12+1149_-12+1150insCTTTTTTTTTTTTTTTTTTTTTTTTTTT T	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
CSE1L_chr20_49041312_49101949	49065313	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	386	0.0026	29	c.229 others(44): Show c.229-852_229-851insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
CSF1R_chr5_150048295_150091554	150084343	A A	AAAGAAAG others(22): Show AAAGAAAGAAGAAAGAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0360 a0001c0001t0002g0360	1	406	0.0025	29	c.49+ others(44): Show c.49+2035_49+2036insCTTTCTTTCTTTCTTCTTTCTTCTTTCTT	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSGALNACT1_chr8_19399161_19762277	19408949	A A	ACACACAC others(22): Show ACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0236 a0001c0002t0002g0236	1	238	0.0042	29	c.122 others(46): Show c.1228-256_1228-255insGTGTGTGTGTGTGTGTGTGTGTGTGTGT G	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	7/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19541553	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0223 a0001c0001t0002g0223	1	238	0.0042	29	c.-29 others(50): Show c.-296-35424_-296-35423insAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSH1_chr17_63889918_63901574	63898115	T T	TTTCTTTC others(22): Show TTTCTTTCTTTCTTTCTTTCTTTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	29	c.-16 others(40): Show c.-1605_-1604insGAGAGAGAAAGAAAGAAAGAAAGAAAGAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1542		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898172	C C	CTTCTTTC others(22): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0009 a0001c0005t0002g0009	1	428	0.0023	29	c.-16 others(40): Show c.-1662_-1661insAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1599		chr17	TogoVar
CSK_chr15_74777080_74808197	74786013	T T	TTTTTTTT others(22): Show TTTTTTTTTTTTTTTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	394	0.0025	29	c.-66 others(46): Show c.-66+3294_-66+3295insTTTTTTTTTTTTTGTGTGTGTGTGTGTG T	CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CSK_chr15_74777080_74808197	74786013	T T	TTTTTTTT others(22): Show TTTTTTTTTTTTTTTTTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01256.hp1 HG01258.hp1 others(4): Show HG00741.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01496.hp2 HG02683.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0079 a0001c0001t0001g0013 a0001c0001t0001g0079	7	394	0.0178	29	c.-66 others(46): Show c.-66+3294_-66+3295insTTTTTTTTTTTTTTTGTGTGTGTGTGTG T	CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CSK_chr15_74777080_74808197	74786013	T T	TTTTTTTT others(22): Show TTTTTTTTTTTTTTTTTTTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01070.hp2 HG01074.hp2 others(11): Show HG00733.hp2 HG01070.hp2 HG01074.hp2 HG01123.hp2 HG01167.hp1 HG01884.hp2 HG01891.hp1 HG02040.hp1 HG02257.hp1 HG02622.hp2 HG02698.hp1 HG03688.hp2 NA18612.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0007 a0001c0001t0001g0036 a0001c0001t0001g0087 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0036 a0001c0001t0001g0087 a0001c0010t0001g0036	14	394	0.0355	29	c.-66 others(46): Show c.-66+3294_-66+3295insTTTTTTTTTTTTTTTTTGTGTGTGTGTG T	CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CSK_chr15_74777080_74808197	74786013	T T	TTTTTTTT others(22): Show TTTTTTTTTTTTTTTTTTTTTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA18969.hp1 NA19081.hp1 HG00140.hp1 NA18969.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	3	394	0.0076	29	c.-66 others(46): Show c.-66+3294_-66+3295insTTTTTTTTTTTTTTTTTTTGTGTGTGTG T	CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CSMD1_chr8_2930361_4999914	3155359	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0061 a0001c0061	a0001c0061t0001 a0001c0061t0001	a0001c0061t0001g0021 a0001c0061t0001g0021	1	126	0.0079	29	c.591 others(48): Show c.5914+2537_5914+2538insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	39/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3182841	G G	GGGTGTGT others(22): Show GGGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA19074.hp2 HG01243.hp1 NA19074.hp2	a0001 a0005 a0001 a0005	a0001c0090 a0005c0064 a0001c0090 a0005c0064	a0001c0090t0001 a0005c0064t0051 a0001c0090t0001 a0005c0064t0051	a0001c0090t0001g0027 a0005c0064t0051g0078 a0001c0090t0001g0027 a0005c0064t0051g0078	2	126	0.0159	29	c.562 others(48): Show c.5621-1628_5621-1627insACACACACACACACACACACACACAC ACC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3384720	A A	AATATATA others(22): Show AATATATATTTATATATATTATATAAATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0093 a0001c0093	a0001c0093t0009 a0001c0093t0009	a0001c0093t0009g0007 a0001c0093t0009g0007	1	126	0.0079	29	c.278 others(48): Show c.2782+2773_2782+2774insATATTTATATAATATATATAAATATA TAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	18/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3439309	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0012 a0001c0045t0012	a0001c0045t0012g0010 a0001c0045t0012g0010	1	126	0.0079	29	c.156 others(50): Show c.1561+29402_1561+29403insAAAAATATATATATATATATATAT ATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3439309	A A	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0073 a0001c0046t0073	a0001c0046t0073g0091 a0001c0046t0073g0091	1	126	0.0079	29	c.156 others(50): Show c.1561+29402_1561+29403insAAAAAAATATATATATATATATAT ATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3709680	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0055 a0003c0014t0055	a0003c0014t0055g0056 a0003c0014t0055g0056	1	126	0.0079	29	c.932 others(46): Show c.932-1218_932-1190dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	6/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3968004	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0032 a0032	a0032c0011 a0032c0011	a0032c0011t0065 a0032c0011t0065	a0032c0011t0065g0101 a0032c0011t0065g0101	1	126	0.0079	29	c.818 others(48): Show c.818+29898_818+29899insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4441095	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03834.hp1 HG00099.hp2 HG03834.hp1	a0001 a0004 a0001 a0004	a0001c0005 a0004c0087 a0001c0005 a0004c0087	a0001c0005t0007 a0004c0087t0001 a0001c0005t0007 a0004c0087t0001	a0001c0005t0007g0070 a0004c0087t0001g0022 a0001c0005t0007g0070 a0004c0087t0001g0022	2	126	0.0159	29	c.303 others(48): Show c.303-21031_303-21030insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4637644	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0020 a0020	a0020c0024 a0020c0024	a0020c0024t0077 a0020c0024t0077	a0020c0024t0077g0104 a0020c0024t0077g0104	1	126	0.0079	29	c.86- others(41): Show c.86-115_86-87dupAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD2_chr1_33508998_34170230	33584686	C C	CATATATG others(22): Show CATATATGTATATATATATATTATGAAATA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03471.hp2 HG02965.hp1 HG03471.hp2	a0014 a0015 a0014 a0015	a0014c0036 a0015c0053 a0014c0036 a0015c0053	a0014c0036t0002 a0015c0053t0002 a0014c0036t0002 a0015c0053t0002	a0014c0036t0002g0044 a0015c0053t0002g0024 a0014c0036t0002g0044 a0015c0053t0002g0024	2	66	0.0303	29	c.705 others(46): Show c.7052-885_7052-857dupTATTTCATAATATATATATATACATATA T	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	46/70			chr1	TogoVar
CSMD3_chr8_112217928_113441939	112270359	T T	TGTGTGTG others(22): Show TGTGTGTGTGTGTGTGTGTGTTAGGGGTGA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01255.hp2 HG01257.hp2 others(1): Show HG01175.hp1 HG01255.hp2 HG01257.hp2 NA19063.hp1	a0002 a0012 a0014 a0002 a0012 a0014	a0002c0005 a0012c0022 a0014c0030 a0002c0005 a0012c0022 a0014c0030	a0002c0005t0001 a0012c0022t0001 a0014c0030t0001 a0002c0005t0001 a0012c0022t0001 a0014c0030t0001	a0002c0005t0001g0027 a0002c0005t0001g0033 a0012c0022t0001g0013 others(1): Show a0002c0005t0001g0027 a0002c0005t0001g0033 a0012c0022t0001g0013 a0014c0030t0001g0030	4	80	0.0500	29	c.950 others(48): Show c.9509-4770_9509-4769insTCACCCCTAACACACACACACACACA CAC	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	59/70			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542692	A A	ATATATAT others(22): Show ATATATATGTATGTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0125 a0001c0001t0008g0125	1	390	0.0026	29	c.230 others(46): Show c.230+7382_230+7383insATATATATATATATATACATACATATAT A	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar

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