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
CRYL1_chr13_20398669_20530857	20466682	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01123.hp1 HG02809.hp1 others(3): Show HG00642.hp1 HG01123.hp1 HG02809.hp1 HG03139.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0001t0001 a0001c0001t0004 a0001c0002t0002	a0001c0001t0001g0133 a0001c0001t0001g0229 a0001c0001t0001g0236 others(3): Show a0001c0001t0001g0133 a0001c0001t0001g0229 a0001c0001t0001g0236 a0001c0001t0004g0109 a0001c0002t0002g0176 a0001c0002t0002g0231	6	250	0.0240	14	c.276 others(33): Show c.276+22674_276+22687dupCACACACACACACA	CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	3/7			chr13	TogoVar
CRYL1_chr13_20398669_20530857	20466705	T T	TGTGTGTG others(7): Show TGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	250	0.0040	14	c.276 others(33): Show c.276+22664_276+22665insTCACACACACACAC	CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	3/7			chr13	TogoVar
CRYL1_chr13_20398669_20530857	20505359	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	250	0.0040	14	c.149 others(31): Show c.149+7070_149+7083dupTTTTTTTTTTTTTT	CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	2/7			chr13	TogoVar
CRYZL1_chr21_33584341_33646741	33637788	T T	TATATATA others(7): Show TATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02809.hp2 HG02055.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0193 a0001c0001t0001g0177 a0001c0001t0001g0193	2	360	0.0056	14	c.-7+ others(29): Show c.-7+3892_-7+3893insGTATATATATATAT	CRYZL1	ENSG00000205758.12	transcript	ENST00000381554.8	protein_coding	1/12			chr21	TogoVar
CRYZ_chr1_74700486_74738050	74702929	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01358.hp2 HG02015.hp2 others(2): Show HG00099.hp1 HG01358.hp2 HG02015.hp2 NA19060.hp2 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0002c0004	a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 a0002c0004t0003	a0001c0001t0001g0032 a0001c0001t0001g0146 a0002c0002t0001g0083 others(2): Show a0001c0001t0001g0032 a0001c0001t0001g0146 a0002c0002t0001g0083 a0002c0003t0001g0120 a0002c0004t0003g0256	5	372	0.0134	14	c.33 others(25): Show c.3366_*3367insACACACACACACAC	CRYZ	ENSG00000116791.14	transcript	ENST00000340866.10	protein_coding		2556		chr1	TogoVar
CRYZ_chr1_74700486_74738050	74702963	T T	TGTGTGTG others(7): Show TGTGTGTGTGTGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01069.hp2 HG01255.hp1 others(9): Show HG00280.hp1 HG01069.hp2 HG01255.hp1 HG02015.hp1 HG02056.hp1 HG02080.hp1 HG03239.hp1 HG03491.hp1 HG03927.hp2 NA18944.hp2 NA18946.hp2 NA18966.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0004 others(1): Show a0001c0001 a0001c0005 a0002c0004 a0002c0007	a0001c0001t0001 a0001c0005t0003 a0002c0004t0003 others(1): Show a0001c0001t0001 a0001c0005t0003 a0002c0004t0003 a0002c0007t0003	a0001c0001t0001g0033 a0001c0001t0001g0207 a0001c0005t0003g0010 others(9): Show a0001c0001t0001g0033 a0001c0001t0001g0207 a0001c0005t0003g0010 a0001c0005t0003g0154 a0001c0005t0003g0221 a0002c0004t0003g0005 a0002c0004t0003g0238 a0002c0004t0003g0241 a0002c0004t0003g0242 a0002c0007t0003g0065 a0002c0007t0003g0070 a0002c0007t0003g0085	12	372	0.0323	14	c.33 others(25): Show c.3332_*3333insGCACACACACACAC	CRYZ	ENSG00000116791.14	transcript	ENST00000340866.10	protein_coding		2522		chr1	TogoVar
CSAD_chr12_53152663_53185925	53184114	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA19005.hp2 NA18979.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	334	0.0060	14	c.-34 others(25): Show c.-3487_-3474dupACACACACACACAC	CSAD	ENSG00000139631.20	transcript	ENST00000444623.6	protein_coding		3190		chr12	TogoVar
CSAD_chr12_53152663_53185925	53184148	T T	TGCGCGCG others(7): Show TGCGCGCGCGCGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	334	0.0030	14	c.-35 others(25): Show c.-3508_-3507insGCGCGCGCGCGCGC	CSAD	ENSG00000139631.20	transcript	ENST00000444623.6	protein_coding		3224		chr12	TogoVar
CSAD_chr12_53152663_53185925	53184150	T T	TGTGTGCG others(7): Show TGTGTGCGCGCGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	334	0.0030	14	c.-35 others(25): Show c.-3510_-3509insGCGCGCGCGCACAC	CSAD	ENSG00000139631.20	transcript	ENST00000444623.6	protein_coding		3226		chr12	TogoVar
CSAG1_chrX_152722484_152738721	152729992	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03130.hp1 HG02976.hp1 HG03130.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0001 a0001c0001t0001 a0005c0005t0001	a0001c0001t0001g0104 a0005c0005t0001g0075 a0001c0001t0001g0104 a0005c0005t0001g0075	2	318	0.0063	14	c.17- others(29): Show c.17-1782_17-1769dupTATATATATATATA	CSAG1	ENSG00000198930.13	transcript	ENST00000452779.3	protein_coding	2/3			chrX	TogoVar
CSAG1_chrX_152722484_152738721	152730009	T T	TATATATA others(7): Show TATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02055.hp1 HG01070.hp2 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0029 a0002c0002t0002g0029	2	318	0.0063	14	c.17- others(29): Show c.17-1786_17-1785insGTATATATATATAT	CSAG1	ENSG00000198930.13	transcript	ENST00000452779.3	protein_coding	2/3			chrX	TogoVar
CSAG2_chrX_152703261_152714273	152709605	A A	AAGAGAGA others(7): Show AAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG02004.hp1 NA18942.hp2 others(4): Show HG01256.hp1 HG02004.hp1 NA18942.hp2 NA18944.hp1 NA18950.hp2 NA18986.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	7	211	0.0332	14	c.-50 others(23): Show c.-507_-494dupCTCTCTCTCTCTCT	CSAG2	ENSG00000268902.4	transcript	ENST00000638741.2	protein_coding		333		chrX	TogoVar
CSAG2_chrX_152703261_152714273	152709627	G G	GAGAGAGA others(7): Show GAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	211	0.0047	14	c.-51 others(23): Show c.-516_-515insTTCTCTCTCTCTCT	CSAG2	ENSG00000268902.4	transcript	ENST00000638741.2	protein_coding		355		chrX	TogoVar
CSAG2_chrX_152703261_152714273	152709629	G G	GAGAGAGA others(7): Show GAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp1 HG03540.hp2 HG03492.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	211	0.0095	14	c.-51 others(23): Show c.-518_-517insTTCTCTCTCTCTCT	CSAG2	ENSG00000268902.4	transcript	ENST00000638741.2	protein_coding		357		chrX	TogoVar
CSAG2_chrX_152703261_152714273	152710821	G G	GATATATA others(7): Show GATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0008	1	211	0.0047	14	c.-17 others(25): Show c.-1723_-1710dupATATATATATATAT	CSAG2	ENSG00000268902.4	transcript	ENST00000638741.2	protein_coding		1549		chrX	TogoVar
CSDC2_chr22_41556010_41581666	41561045	G G	GACACACA others(7): Show GACACACACACACAC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00423.hp1 HG00738.hp1 HG01106.hp1 HG00423.hp1 HG00738.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0035 a0001c0001t0027 a0001c0001t0035	a0001c0001t0027g0194 a0001c0001t0027g0197 a0001c0001t0035g0199 a0001c0001t0027g0194 a0001c0001t0027g0197 a0001c0001t0035g0199	3	288	0.0104	14	c.-23 others(23): Show c.-238_-225dupCACACACACACACA	CSDC2	ENSG00000172346.15	transcript	ENST00000306149.12	protein_coding	1/4	10883	INFO_REALIGN_3_PRIME	chr22	TogoVar
CSDC2_chr22_41556010_41581666	41561045	G G	GACACACA others(7): Show GACACACAGACACAC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02486.hp2 HG03098.hp1 HG02486.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0127 a0001c0001t0028g0128 a0001c0001t0028g0127 a0001c0001t0028g0128	2	288	0.0069	14	c.-25 others(23): Show c.-255_-254insGACACACACACACA	CSDC2	ENSG00000172346.15	transcript	ENST00000306149.12	protein_coding	1/4	10913	INFO_REALIGN_3_PRIME	chr22	TogoVar
CSDC2_chr22_41556010_41581666	41563167	T T	TGCACAGA others(7): Show TGCACAGACGCAGGC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0082 a0001c0001t0026g0082	1	288	0.0035	14	c.-12 others(33): Show c.-124+1985_-124+1998dupGCACAGACGCAGGC	CSDC2	ENSG00000172346.15	transcript	ENST00000306149.12	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
CSDC2_chr22_41556010_41581666	41568134	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00621.hp1 HG00642.hp1 others(72): Show HG00280.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00738.hp2 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01167.hp1 HG01243.hp2 HG01258.hp2 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01981.hp2 HG02071.hp2 HG02109.hp1 HG02145.hp2 HG02148.hp2 HG02280.hp2 HG02300.hp1 HG02615.hp1 HG02630.hp1 HG02698.hp2 HG02717.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG03130.hp2 HG03486.hp1 HG03490.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04199.hp1 HG04199.hp2 NA18612.hp1 NA18747.hp1 NA18950.hp1 NA18950.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18969.hp1 NA18973.hp1 NA18973.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp2 NA19007.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19088.hp1 NA19088.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0037 a0001c0003t0004	a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0107 others(49): Show a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0172 a0001c0001t0001g0186 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0066 a0001c0001t0002g0091 a0001c0001t0002g0094 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0173 a0001c0001t0002g0178 a0001c0001t0004g0001 a0001c0001t0004g0029 a0001c0001t0005g0034 a0001c0001t0007g0015 a0001c0001t0008g0007 a0001c0001t0008g0079 a0001c0001t0008g0149 a0001c0001t0008g0151 a0001c0001t0012g0003 a0001c0001t0012g0080 a0001c0001t0012g0081 a0001c0001t0012g0093 a0001c0001t0012g0109 a0001c0001t0016g0052 a0001c0001t0018g0007 a0001c0001t0020g0003 a0001c0001t0020g0029 a0001c0001t0020g0108 a0001c0001t0023g0058 a0001c0001t0024g0130 a0001c0001t0025g0003 a0001c0001t0025g0065 a0001c0001t0029g0092 a0001c0001t0030g0102 a0001c0001t0032g0152 a0001c0001t0037g0076 a0001c0003t0004g0150	75	288	0.2604	14	c.-12 others(33): Show c.-123-3701_-123-3700insTTTTTTTTTTTTTT	CSDC2	ENSG00000172346.15	transcript	ENST00000306149.12	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
CSDE1_chr1_114711916_114762984	114732026	G G	GCTGGTCT others(7): Show GCTGGTCTTGAACTC	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA18955.hp1 NA18986.hp1 HG04115.hp2 NA18955.hp1 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0036 a0001c0002t0009g0205 a0001c0002t0009g0036 a0001c0002t0009g0205	3	328	0.0092	14	c.105 others(31): Show c.1050+564_1050+577dupGAGTTCAAGACCAG	CSDE1	ENSG00000009307.17	transcript	ENST00000358528.9	protein_coding	10/19			chr1	TogoVar
CSE1L_chr20_49041312_49101949	49047564	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01255.hp1 HG02486.hp1 others(9): Show HG00738.hp1 HG01255.hp1 HG02486.hp1 HG02965.hp1 NA18941.hp2 NA18966.hp2 NA18968.hp1 NA18988.hp2 NA19060.hp1 NA19074.hp1 NA19088.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 others(7): Show a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0002t0001g0001 a0001c0002t0001g0336 a0001c0002t0001g0337 a0001c0002t0001g0338 a0001c0002t0001g0339	12	386	0.0311	14	c.-12 others(31): Show c.-12+1156_-12+1169dupTTTTTTTTTTTTTT	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(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	386	0.0026	14	c.229 others(29): Show c.229-865_229-852dupTTTTTTTTTTTTTT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
CSE1L_chr20_49041312_49101949	49065586	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	386	0.0026	14	c.229 others(29): Show c.229-593_229-580dupTTTTTTTTTTTTTT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
CSE1L_chr20_49041312_49101949	49086706	C C	CTTCATTA others(7): Show CTTCATTACTGTGTT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA19060.hp1 NA18968.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0310 a0001c0001t0001g0312	2	386	0.0052	14	c.172 others(33): Show c.1724-1300_1724-1287dupCATTACTGTGTTTT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	16/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
CSE1L_chr20_49041312_49101949	49097938	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 NA18978.hp1 HG06807.hp2 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0222 a0001c0001t0002g0069 a0001c0001t0002g0222	2	386	0.0052	14	c.15 others(25): Show c.1500_*1501insTTTTTTTTTTTTTT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding		990		chr20	TogoVar
CSF1R_chr5_150048295_150091554	150083349	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0348 a0002c0003t0001g0348	1	406	0.0025	14	c.50- others(29): Show c.50-2339_50-2326dupGTGTGTGTGTGTGT	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF1R_chr5_150048295_150091554	150084388	A A	AAAGAAAG others(7): Show AAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0361 a0002c0003t0001g0361	1	406	0.0025	14	c.49+ others(29): Show c.49+1990_49+1991insCTTCTTTCTTTCTT	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF2RA_chrX_1263814_1314935	1282031	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG03831.hp2 NA18973.hp2 others(1): Show HG02148.hp1 HG03831.hp2 NA18973.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0004	a0001c0001t0001g0070 a0001c0001t0002g0051 a0001c0002t0001g0103 others(1): Show a0001c0001t0001g0070 a0001c0001t0002g0051 a0001c0002t0001g0103 a0001c0002t0004g0083	4	159	0.0252	14	c.-26 others(29): Show c.-26-636_-26-623dupAAAAAAAAAAAAAA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RB_chr22_36908628_36945439	36943743	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0128 a0001c0005t0008g0128	1	360	0.0028	14	c.52 others(25): Show c.5241_*5242insGTGTGTGTGTGTGT	CSF2RB	ENSG00000100368.15	transcript	ENST00000403662.8	protein_coding		3305		chr22	TogoVar
CSGALNACT1_chr8_19399161_19762277	19408949	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 homoSapiens_chm13v2.hp1 HG03486.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0005 a0002c0003 a0003c0005	a0002c0003t0004 a0003c0005t0004 a0002c0003t0004 a0003c0005t0004	a0002c0003t0004g0235 a0003c0005t0004g0007 a0002c0003t0004g0235 a0003c0005t0004g0007	2	238	0.0084	14	c.122 others(31): Show c.1228-269_1228-256dupGTGTGTGTGTGTGT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	7/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19507528	G G	GAAAAAAA others(7): Show GAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0012 a0012	a0012c0021 a0012c0021	a0012c0021t0040 a0012c0021t0040	a0012c0021t0040g0178 a0012c0021t0040g0178	1	238	0.0042	14	c.-29 others(33): Show c.-296-1412_-296-1399dupTTTTTTTTTTTTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513404	T T	TTCTCTCT others(7): Show TTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	238	0.0042	14	c.-29 others(33): Show c.-296-7275_-296-7274insGAGAGAGAGAGAGA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513430	C C	CTATATAT others(7): Show CTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	238	0.0042	14	c.-29 others(33): Show c.-296-7301_-296-7300insTATATATATATATA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513432	C C	CTATATAT others(7): Show CTATATATATATATA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	238	0.0042	14	c.-29 others(33): Show c.-296-7303_-296-7302insTATATATATATATA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513434	C C	CTATATAT others(7): Show CTATATATATATATA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0223 a0001c0001t0002g0223	1	238	0.0042	14	c.-29 others(33): Show c.-296-7305_-296-7304insTATATATATATATA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTATATAT others(7): Show CTATATATATATATA	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18992.hp1 NA18968.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0002 a0001c0001t0001 a0001c0006t0002	a0001c0001t0001g0222 a0001c0006t0002g0135 a0001c0001t0001g0222 a0001c0006t0002g0135	2	238	0.0084	14	c.-29 others(33): Show c.-296-7320_-296-7307dupTATATATATATATA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTCTATAT others(7): Show CTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02293.hp2 NA18966.hp1 others(1): Show HG02056.hp2 HG02293.hp2 NA18966.hp1 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0053 a0001c0001t0001g0069 a0001c0001t0001g0071 others(1): Show a0001c0001t0001g0053 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0010g0150	4	238	0.0168	14	c.-29 others(33): Show c.-296-7307_-296-7306insTATATATATATAGA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTCTCTAT others(7): Show CTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01496.hp2 HG01993.hp2 others(3): Show HG00597.hp1 HG01496.hp2 HG01993.hp2 HG03195.hp1 NA18953.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0036	a0001c0001t0001g0004 a0001c0001t0001g0125 a0001c0001t0002g0218 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0125 a0001c0001t0002g0218 a0001c0001t0006g0005 a0001c0001t0010g0122 a0001c0001t0036g0225	6	238	0.0252	14	c.-29 others(33): Show c.-296-7307_-296-7306insTATATATATAGAGA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTCTCTCT others(7): Show CTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA19011.hp2 NA19057.hp2 others(1): Show HG03942.hp1 NA19011.hp2 NA19057.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0151 a0001c0001t0001g0192 others(1): Show a0001c0001t0001g0106 a0001c0001t0001g0151 a0001c0001t0001g0192 a0001c0001t0001g0224	4	238	0.0168	14	c.-29 others(33): Show c.-296-7307_-296-7306insTATATATAGAGAGA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTCTCTCT others(7): Show CTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02132.hp1 HG03834.hp1 others(1): Show HG02055.hp1 HG02132.hp1 HG03834.hp1 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0006 a0001c0001t0001 a0001c0001t0002 a0001c0002t0006	a0001c0001t0001g0149 a0001c0001t0001g0206 a0001c0001t0002g0163 others(1): Show a0001c0001t0001g0149 a0001c0001t0001g0206 a0001c0001t0002g0163 a0001c0002t0006g0045	4	238	0.0168	14	c.-29 others(33): Show c.-296-7307_-296-7306insTATATAGAGAGAGA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTCTCTCT others(7): Show CTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	238	0.0042	14	c.-29 others(33): Show c.-296-7307_-296-7306insTATAGAGAGAGAGA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTCTCTCT others(7): Show CTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0114 a0001c0001t0006g0114	1	238	0.0042	14	c.-29 others(33): Show c.-296-7307_-296-7306insTAGAGAGAGAGAGA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19514475	C C	CTATATAT others(7): Show CTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp1 HG01192.hp2 others(14): Show HG00323.hp2 HG00733.hp1 HG01192.hp2 HG01257.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG02056.hp1 HG02451.hp2 HG02922.hp2 HG03017.hp1 HG03471.hp1 HG03831.hp1 HG03834.hp2 NA19240.hp1 NA20752.hp1 NA20905.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0010c0018	a0001c0001t0002 a0001c0002t0002 a0001c0002t0014 others(8): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0014 a0002c0003t0003 a0002c0003t0007 a0002c0003t0009 a0002c0003t0011 a0002c0003t0015 a0002c0003t0038 a0002c0004t0005 a0010c0018t0003	a0001c0001t0002g0217 a0001c0002t0002g0008 a0001c0002t0002g0027 others(14): Show a0001c0001t0002g0217 a0001c0002t0002g0008 a0001c0002t0002g0027 a0001c0002t0002g0164 a0001c0002t0014g0120 a0002c0003t0003g0105 a0002c0003t0003g0127 a0002c0003t0003g0194 a0002c0003t0003g0195 a0002c0003t0007g0051 a0002c0003t0007g0128 a0002c0003t0009g0072 a0002c0003t0011g0034 a0002c0003t0015g0133 a0002c0003t0038g0221 a0002c0004t0005g0015 a0010c0018t0003g0039	17	238	0.0714	14	c.-29 others(33): Show c.-296-8359_-296-8346dupTATATATATATATA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19514510	T T	TATATATA others(7): Show TATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0052 a0002c0003t0005g0052	1	238	0.0042	14	c.-29 others(33): Show c.-296-8381_-296-8380insGTATATATATATAT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19541553	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01243.hp2 HG01106.hp1 HG01243.hp2	a0001 a0012 a0001 a0012	a0001c0002 a0012c0021 a0001c0002 a0012c0021	a0001c0002t0048 a0012c0021t0040 a0001c0002t0048 a0012c0021t0040	a0001c0002t0048g0238 a0012c0021t0040g0178 a0001c0002t0048g0238 a0012c0021t0040g0178	2	238	0.0084	14	c.-29 others(35): Show c.-296-35437_-296-35424dupAAAAAAAAAAAAAA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19542200	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0015 a0002c0004t0005g0015	1	238	0.0042	14	c.-29 others(35): Show c.-296-36084_-296-36071dupGTGTGTGTGTGTGT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19553620	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02886.hp2 HG02735.hp2 HG02886.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0005 a0002c0003 a0003c0005	a0002c0003t0003 a0003c0005t0004 a0002c0003t0003 a0003c0005t0004	a0002c0003t0003g0048 a0003c0005t0004g0094 a0002c0003t0003g0048 a0003c0005t0004g0094	2	238	0.0084	14	c.-29 others(35): Show c.-296-47504_-296-47491dupATATATATATATAT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19553902	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03516.hp1 HG02486.hp2 HG03516.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0006 a0002c0003t0004g0014 a0002c0003t0004g0006 a0002c0003t0004g0014	2	238	0.0084	14	c.-29 others(35): Show c.-296-47786_-296-47773dupGTGTGTGTGTGTGT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19597285	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0049 a0001c0002t0016g0049	1	238	0.0042	14	c.-29 others(33): Show c.-297+4472_-297+4485dupAAAAAAAAAAAAAA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19599453	G G	GAAAAGAA others(7): Show GAAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0014 a0014	a0014c0013 a0014c0013	a0014c0013t0004 a0014c0013t0004	a0014c0013t0004g0220 a0014c0013t0004g0220	1	238	0.0042	14	c.-29 others(33): Show c.-297+2304_-297+2317dupTCTTTCTTTCTTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar

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